2-27858012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858012
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858012
    reference: chr 2
allele count: 2
allele frequency: 1.651554938975045e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.150C>T
  hgvsp: ENST00000458167.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.198C>T
  hgvsp: ENST00000515877.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.399C>T
  hgvsp: ENST00000407583.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.477C>T
  hgvsp: ENST00000264718.3:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*278C>T
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1712C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.198C>T
  hgvsp: ENST00000424214.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.150C>T
  hgvsp: ENST00000503738.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.435C>T
  hgvsp: ENST00000610189.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.414C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser159Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-27858015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858015
    reference: chr 2
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.153A>G
  hgvsp: ENST00000503738.1:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.480A>G
  hgvsp: ENST00000264718.3:c.480A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.402A>G
  hgvsp: ENST00000407583.3:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.438A>G
  hgvsp: ENST00000610189.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.201A>G
  hgvsp: ENST00000424214.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*281A>G
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.417A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.153A>G
  hgvsp: ENST00000458167.2:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1715A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*109A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.201A>G
  hgvsp: ENST00000515877.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser160Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

2-27858022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858022
    reference: chr 2
allele count: 5
allele frequency: 4.126161514466322e-5
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.409A>G
  hgvsp: ENSP00000384255.3:p.Thr137Ala
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.424A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*116A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.445A>G
  hgvsp: ENSP00000476446.1:p.Thr149Ala
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.160A>G
  hgvsp: ENSP00000412170.2:p.Thr54Ala
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.208A>G
  hgvsp: ENSP00000398115.1:p.Thr70Ala
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.208A>G
  hgvsp: ENSP00000424678.1:p.Thr70Ala
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1722A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*288A>G
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.160A>G
  hgvsp: ENSP00000427269.1:p.Thr54Ala
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.487A>G
  hgvsp: ENSP00000264718.3:p.Thr163Ala
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr163Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-27858023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858023
    reference: chr 2
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.161C>T
  hgvsp: ENSP00000412170.2:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1723C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.410C>T
  hgvsp: ENSP00000384255.3:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.209C>T
  hgvsp: ENSP00000424678.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.209C>T
  hgvsp: ENSP00000398115.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.488C>T
  hgvsp: ENSP00000264718.3:p.Thr163Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.161C>T
  hgvsp: ENSP00000427269.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.446C>T
  hgvsp: ENSP00000476446.1:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.425C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*289C>T
  variant of: http://identifiers.org/hgnc/29380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr163Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-27858024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858024
    reference: chr 2
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.210A>G
  hgvsp: ENST00000424214.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*118A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.162A>G
  hgvsp: ENST00000458167.2:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.210A>G
  hgvsp: ENST00000515877.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.489A>G
  hgvsp: ENST00000264718.3:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.411A>G
  hgvsp: ENST00000407583.3:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*290A>G
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1724A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.447A>G
  hgvsp: ENST00000610189.1:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.162A>G
  hgvsp: ENST00000503738.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.426A>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr163Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

2-27858030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858030
    reference: chr 2
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1730C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.216C>T
  hgvsp: ENST00000424214.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.495C>T
  hgvsp: ENST00000264718.3:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.417C>T
  hgvsp: ENST00000407583.3:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*296C>T
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*124C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.168C>T
  hgvsp: ENST00000458167.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.216C>T
  hgvsp: ENST00000515877.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.168C>T
  hgvsp: ENST00000503738.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.432C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.453C>T
  hgvsp: ENST00000610189.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val165Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-27858033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858033
    reference: chr 2
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.219C>T
  hgvsp: ENST00000424214.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.456C>T
  hgvsp: ENST00000610189.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.435C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.498C>T
  hgvsp: ENST00000264718.3:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.420C>T
  hgvsp: ENST00000407583.3:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1733C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.171C>T
  hgvsp: ENST00000503738.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*299C>T
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.171C>T
  hgvsp: ENST00000458167.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.219C>T
  hgvsp: ENST00000515877.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile166Ile
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27858035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858035
    reference: chr 2
allele count: 3
allele frequency: 2.474839135456195e-5
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.458A>G
  hgvsp: ENSP00000476446.1:p.Tyr153Cys
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.173A>G
  hgvsp: ENSP00000427269.1:p.Tyr58Cys
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.437A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.173A>G
  hgvsp: ENSP00000412170.2:p.Tyr58Cys
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.500A>G
  hgvsp: ENSP00000264718.3:p.Tyr167Cys
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259080
  ensembl transcript: ENST00000505973
  gene symbol: RP11-158I13.2
  hgvsc: ENST00000505973.1:n.1735A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.422A>G
  hgvsp: ENSP00000384255.3:p.Tyr141Cys
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000243943
  ensembl protein: ENSP00000451572
  ensembl transcript: ENST00000556601
  gene symbol: ZNF512
  hgvsc: ENST00000556601.1:c.*301A>G
  variant of: http://identifiers.org/hgnc/29380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.221A>G
  hgvsp: ENSP00000398115.1:p.Tyr74Cys
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.221A>G
  hgvsp: ENSP00000424678.1:p.Tyr74Cys
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr167Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-27858062-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858062
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.248A>G
  hgvsp: ENSP00000424678.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.200A>G
  hgvsp: ENSP00000427269.1:p.Asn67Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.464A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.200A>G
  hgvsp: ENSP00000412170.2:p.Asn67Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.485A>G
  hgvsp: ENSP00000476446.1:p.Asn162Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.527A>G
  hgvsp: ENSP00000264718.3:p.Asn176Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.248A>G
  hgvsp: ENSP00000398115.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*156A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.449A>G
  hgvsp: ENSP00000384255.3:p.Asn150Ser
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn176Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-27858071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858071
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858071
    reference: chr 2
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.473C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.458C>T
  hgvsp: ENSP00000384255.3:p.Thr153Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.257C>T
  hgvsp: ENSP00000424678.1:p.Thr86Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.494C>T
  hgvsp: ENSP00000476446.1:p.Thr165Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.257C>T
  hgvsp: ENSP00000398115.1:p.Thr86Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.536C>T
  hgvsp: ENSP00000264718.3:p.Thr179Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.209C>T
  hgvsp: ENSP00000412170.2:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.209C>T
  hgvsp: ENSP00000427269.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*165C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr179Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-27858072-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858072
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.210C>G
  hgvsp: ENST00000503738.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.495C>G
  hgvsp: ENST00000610189.1:c.495C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.210C>G
  hgvsp: ENST00000458167.2:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.258C>G
  hgvsp: ENST00000515877.1:c.258C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*166C>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.459C>G
  hgvsp: ENST00000407583.3:c.459C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.537C>G
  hgvsp: ENST00000264718.3:c.537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.258C>G
  hgvsp: ENST00000424214.1:c.258C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.474C>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr179Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

2-27858090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858090
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858090
    reference: chr 2
allele count: 3
allele frequency: 2.48015873015873e-5
allele num: 120960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.276C>T
  hgvsp: ENST00000424214.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.228C>T
  hgvsp: ENST00000503738.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.477C>T
  hgvsp: ENST00000407583.3:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.492C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.513C>T
  hgvsp: ENST00000610189.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*184C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.228C>T
  hgvsp: ENST00000458167.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.276C>T
  hgvsp: ENST00000515877.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.555C>T
  hgvsp: ENST00000264718.3:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu185Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-27858111-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858111
    reference: chr 2
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+10T>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+10T>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-27858111-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858111
    reference: chr 2
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+10T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+10T>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-27858112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858112
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858112
    reference: chr 2
allele count: 2665
allele frequency: 2.2180607573866e-2
allele num: 120150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+11G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+11G>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 4.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.75e1
  variant carriers: 665
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 102
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-27858137-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858137
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858137
    reference: chr 2
allele count: 1
allele frequency: 8.430850166930833e-6
allele num: 118612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+36G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+36G>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-27858142-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858142
    reference: chr 2
allele count: 1
allele frequency: 8.472996559963397e-6
allele num: 118022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+41A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+41A>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27858145-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858145
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858145
    reference: chr 2
allele count: 1
allele frequency: 8.518322912584971e-6
allele num: 117394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+44G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+44G>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 3.75e1
  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: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-27858147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858147
    reference: chr 2
allele count: 37
allele frequency: 3.184548912949925e-4
allele num: 116186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+46C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7348
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-27858153-C-CTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858156
    reference: chr 2
allele count: 1
allele frequency: 9.015669233127175e-6
allele num: 110918
alternate allele: CTCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+61_503+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+61_239+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+61_524+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+61_287+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+61_*195+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+61_488+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+61_287+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+61_239+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+61_566+63dupTTC
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-27858153-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27858153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27858150
    reference: chr 2
allele count: 4
allele frequency: 3.60626769325087e-5
allele num: 110918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.488+61_488+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.287+61_287+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.287+61_287+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*195+61_*195+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.239+61_239+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.524+61_524+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.503+61_503+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.239+61_239+63delTTC
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.566+61_566+63delTTC
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: CTCT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-27861038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861038
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861038
    reference: chr 2
allele count: 1
allele frequency: 8.483491126268282e-6
allele num: 117876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.240-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*196-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.288-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.525-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.504-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.288-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.240-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.567-39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.489-39T>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-27861046-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861046
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861046
    reference: chr 2
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.525-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.240-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.288-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.504-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.567-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.489-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*196-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.240-31T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.288-31T>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-27861052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861052
    reference: chr 2
allele count: 36
allele frequency: 3.033111466846407e-4
allele num: 118690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.504-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.288-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*196-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.567-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.240-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.489-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.240-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.525-25T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.288-25T>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26892
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-27861058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861058
    reference: chr 2
allele count: 1
allele frequency: 8.391937026904549e-6
allele num: 119162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.240-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.288-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.240-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.567-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.504-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.525-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.489-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*196-19C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.288-19C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8662
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-27861078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861078
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861078
    reference: chr 2
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.526A>G
  hgvsp: ENSP00000476446.1:p.Ile176Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.241A>G
  hgvsp: ENSP00000412170.2:p.Ile81Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.289A>G
  hgvsp: ENSP00000398115.1:p.Ile97Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.490A>G
  hgvsp: ENSP00000384255.3:p.Ile164Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*197A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.289A>G
  hgvsp: ENSP00000424678.1:p.Ile97Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.241A>G
  hgvsp: ENSP00000427269.1:p.Ile81Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.505A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.568A>G
  hgvsp: ENSP00000264718.3:p.Ile190Val
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29496
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile190Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-27861083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861083
    reference: chr 2
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.495A>G
  hgvsp: ENST00000407583.3:c.495A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.246A>G
  hgvsp: ENST00000458167.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*202A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.246A>G
  hgvsp: ENST00000503738.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.510A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.294A>G
  hgvsp: ENST00000424214.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.294A>G
  hgvsp: ENST00000515877.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.573A>G
  hgvsp: ENST00000264718.3:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.531A>G
  hgvsp: ENST00000610189.1:c.531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13703
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu191Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-27861084-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861084
    reference: chr 2
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.496T>C
  hgvsp: ENSP00000384255.3:p.Tyr166His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.247T>C
  hgvsp: ENSP00000427269.1:p.Tyr83His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.295T>C
  hgvsp: ENSP00000424678.1:p.Tyr99His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.532T>C
  hgvsp: ENSP00000476446.1:p.Tyr178His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.295T>C
  hgvsp: ENSP00000398115.1:p.Tyr99His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.511T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*203T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.247T>C
  hgvsp: ENSP00000412170.2:p.Tyr83His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.574T>C
  hgvsp: ENSP00000264718.3:p.Tyr192His
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr192His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

2-27861086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861086
    reference: chr 2
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.498C>T
  hgvsp: ENST00000407583.3:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.249C>T
  hgvsp: ENST00000458167.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.249C>T
  hgvsp: ENST00000503738.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.513C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.576C>T
  hgvsp: ENST00000264718.3:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*205C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.297C>T
  hgvsp: ENST00000515877.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.297C>T
  hgvsp: ENST00000424214.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.534C>T
  hgvsp: ENST00000610189.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8661
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr192Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-27861089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861089
    reference: chr 2
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.516A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.300A>G
  hgvsp: ENST00000424214.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.300A>G
  hgvsp: ENST00000515877.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*208A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.537A>G
  hgvsp: ENST00000610189.1:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.252A>G
  hgvsp: ENST00000458167.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.252A>G
  hgvsp: ENST00000503738.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.501A>G
  hgvsp: ENST00000407583.3:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.579A>G
  hgvsp: ENST00000264718.3:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys193Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-27861094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861094
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.305A>G
  hgvsp: ENSP00000424678.1:p.Lys102Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.506A>G
  hgvsp: ENSP00000384255.3:p.Lys169Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.584A>G
  hgvsp: ENSP00000264718.3:p.Lys195Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.521A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.257A>G
  hgvsp: ENSP00000427269.1:p.Lys86Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.305A>G
  hgvsp: ENSP00000398115.1:p.Lys102Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.542A>G
  hgvsp: ENSP00000476446.1:p.Lys181Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.257A>G
  hgvsp: ENSP00000412170.2:p.Lys86Arg
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys195Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-27861114-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861114
    reference: chr 2
allele count: 3
allele frequency: 2.485913158766987e-5
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.526A>C
  hgvsp: ENSP00000384255.3:p.Met176Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.325A>C
  hgvsp: ENSP00000398115.1:p.Met109Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.604A>C
  hgvsp: ENSP00000264718.3:p.Met202Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.562A>C
  hgvsp: ENSP00000476446.1:p.Met188Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.277A>C
  hgvsp: ENSP00000427269.1:p.Met93Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.325A>C
  hgvsp: ENSP00000424678.1:p.Met109Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.541A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.277A>C
  hgvsp: ENSP00000412170.2:p.Met93Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*233A>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met202Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/2-27861117-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861117
    reference: chr 2
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.529A>C
  hgvsp: ENSP00000384255.3:p.Asn177His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.328A>C
  hgvsp: ENSP00000398115.1:p.Asn110His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*236A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.544A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.328A>C
  hgvsp: ENSP00000424678.1:p.Asn110His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.280A>C
  hgvsp: ENSP00000427269.1:p.Asn94His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.607A>C
  hgvsp: ENSP00000264718.3:p.Asn203His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.565A>C
  hgvsp: ENSP00000476446.1:p.Asn189His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.280A>C
  hgvsp: ENSP00000412170.2:p.Asn94His
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn203His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

2-27861123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861123
    reference: chr 2
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+1G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+1G>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
hgvs: c.612+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27861125-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861125
    reference: chr 2
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+3A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+3A>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
hgvs: c.612+3A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-27861130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861130
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861130
    reference: chr 2
allele count: 5
allele frequency: 4.151375765928829e-5
allele num: 120442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+8T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+8T>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
hgvs: c.612+8T>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-27861138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861138
    reference: chr 2
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+16C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+16C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-27861140-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861140
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861140
    reference: chr 2
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+18G>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+18G>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-27861161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861161
    reference: chr 2
allele count: 1
allele frequency: 8.342370901810295e-6
allele num: 119870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+39T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+39T>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-27861162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861162
    reference: chr 2
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+40C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+40C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-27861167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861167
    reference: chr 2
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+45C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+45C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-27861173-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861173
    reference: chr 2
allele count: 1
allele frequency: 8.419351036422112e-6
allele num: 118774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.333+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.570+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.612+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.333+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.534+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.549+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*241+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.285+51G>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.285+51G>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27861706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861706
    reference: chr 2
allele count: 3
allele frequency: 2.556847236900419e-5
allele num: 117332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-46C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-46C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

2-27861707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861707
    reference: chr 2
allele count: 54118
allele frequency: 4.573249053542455e-1
allele num: 118336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-45G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-45G>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 6.25e1
  variant carriers: 2121
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.25e1
  variant carriers: 1755
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 1224
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 3164
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.75e1
  variant carriers: 1889
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 6.75e1
  variant carriers: 1489
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 964
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 5.25e1
  variant carriers: 4244
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 5120
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.75e1
  variant carriers: 736
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 9.75e1
  variant carriers: 2111
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.75e1
  variant carriers: 4565
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 5.75e1
  variant carriers: 3308
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 1549
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 4.75e1
  variant carriers: 5041
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 9.25e1
  variant carriers: 445
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 290
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 48255
  bin: 9.75e1
  variant carriers: 37160
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 258
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 17
num of homozygotes: 13660
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-27861713-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861713
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861712
    reference: chr 2
allele count: 2
allele frequency: 1.682566924099406e-5
allele num: 118866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-37delG
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-37delG
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: TG
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

2-27861716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861716
    reference: chr 2
allele count: 1
allele frequency: 8.421052631578947e-6
allele num: 118750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-36C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-36C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-27861717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861717
    reference: chr 2
allele count: 1
allele frequency: 8.407600470825626e-6
allele num: 118940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-35T>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-35T>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-27861724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861724
    reference: chr 2
allele count: 3
allele frequency: 2.519230123274327e-5
allele num: 119084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-28G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-28G>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-27861728-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861728
    reference: chr 2
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-24A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-24A>C
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-27861728-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861728
    reference: chr 2
allele count: 4
allele frequency: 3.355029188753942e-5
allele num: 119224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-24A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-24A>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

2-27861732-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861732
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-20T>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-20T>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

2-27861741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861741
    reference: chr 2
allele count: 7
allele frequency: 5.853821709315939e-5
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.550-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*242-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.334-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.613-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.286-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.535-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.571-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.334-11C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.286-11C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-27861753-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861753
    reference: chr 2
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.335C>G
  hgvsp: ENSP00000398115.1:p.Thr112Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.614C>G
  hgvsp: ENSP00000264718.3:p.Thr205Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.287C>G
  hgvsp: ENSP00000412170.2:p.Thr96Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.287C>G
  hgvsp: ENSP00000427269.1:p.Thr96Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.335C>G
  hgvsp: ENSP00000424678.1:p.Thr112Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.572C>G
  hgvsp: ENSP00000476446.1:p.Thr191Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.536C>G
  hgvsp: ENSP00000384255.3:p.Thr179Ser
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.551C>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr205Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-27861761-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861761
    reference: chr 2
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*251A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.622A>G
  hgvsp: ENSP00000264718.3:p.Ile208Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.295A>G
  hgvsp: ENSP00000427269.1:p.Ile99Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.343A>G
  hgvsp: ENSP00000424678.1:p.Ile115Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.580A>G
  hgvsp: ENSP00000476446.1:p.Ile194Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.559A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.295A>G
  hgvsp: ENSP00000412170.2:p.Ile99Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.544A>G
  hgvsp: ENSP00000384255.3:p.Ile182Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.343A>G
  hgvsp: ENSP00000398115.1:p.Ile115Val
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile208Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-27861765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861765
    reference: chr 2
allele count: 3
allele frequency: 2.486077963404932e-5
allele num: 120672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.563A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.299A>G
  hgvsp: ENSP00000412170.2:p.Asp100Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.584A>G
  hgvsp: ENSP00000476446.1:p.Asp195Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.548A>G
  hgvsp: ENSP00000384255.3:p.Asp183Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.299A>G
  hgvsp: ENSP00000427269.1:p.Asp100Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.626A>G
  hgvsp: ENSP00000264718.3:p.Asp209Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.347A>G
  hgvsp: ENSP00000398115.1:p.Asp116Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*255A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.347A>G
  hgvsp: ENSP00000424678.1:p.Asp116Gly
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp209Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-27861777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861777
    reference: chr 2
allele count: 14
allele frequency: 1.156776229901013e-4
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.311C>T
  hgvsp: ENSP00000412170.2:p.Ala104Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.596C>T
  hgvsp: ENSP00000476446.1:p.Ala199Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.359C>T
  hgvsp: ENSP00000424678.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.560C>T
  hgvsp: ENSP00000384255.3:p.Ala187Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.359C>T
  hgvsp: ENSP00000398115.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.311C>T
  hgvsp: ENSP00000427269.1:p.Ala104Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.638C>T
  hgvsp: ENSP00000264718.3:p.Ala213Val
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.575C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala213Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-27861784-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861784
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861784
    reference: chr 2
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.366A>T
  hgvsp: ENSP00000424678.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.582A>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*274A>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.603A>T
  hgvsp: ENSP00000476446.1:p.Glu201Asp
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.366A>T
  hgvsp: ENSP00000398115.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.318A>T
  hgvsp: ENSP00000427269.1:p.Glu106Asp
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.645A>T
  hgvsp: ENSP00000264718.3:p.Glu215Asp
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.567A>T
  hgvsp: ENSP00000384255.3:p.Glu189Asp
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.318A>T
  hgvsp: ENSP00000412170.2:p.Glu106Asp
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu215Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-27861792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861792
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.326A>G
  hgvsp: ENSP00000427269.1:p.Gln109Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*282A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.326A>G
  hgvsp: ENSP00000412170.2:p.Gln109Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.575A>G
  hgvsp: ENSP00000384255.3:p.Gln192Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.653A>G
  hgvsp: ENSP00000264718.3:p.Gln218Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.374A>G
  hgvsp: ENSP00000398115.1:p.Gln125Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.590A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.374A>G
  hgvsp: ENSP00000424678.1:p.Gln125Arg
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.611A>G
  hgvsp: ENSP00000476446.1:p.Gln204Arg
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln218Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-27861808-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861808
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*298C>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.627C>G
  hgvsp: ENSP00000476446.1:p.Phe209Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.591C>G
  hgvsp: ENSP00000384255.3:p.Phe197Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.342C>G
  hgvsp: ENSP00000427269.1:p.Phe114Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.669C>G
  hgvsp: ENSP00000264718.3:p.Phe223Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.342C>G
  hgvsp: ENSP00000412170.2:p.Phe114Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.390C>G
  hgvsp: ENSP00000424678.1:p.Phe130Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.390C>G
  hgvsp: ENSP00000398115.1:p.Phe130Leu
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.606C>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe223Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

2-27861809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861809
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861809
    reference: chr 2
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.628C>T
  hgvsp: ENSP00000476446.1:p.Gln210Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.391C>T
  hgvsp: ENSP00000398115.1:p.Gln131Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.343C>T
  hgvsp: ENSP00000427269.1:p.Gln115Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.670C>T
  hgvsp: ENSP00000264718.3:p.Gln224Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.592C>T
  hgvsp: ENSP00000384255.3:p.Gln198Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*299C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.391C>T
  hgvsp: ENSP00000424678.1:p.Gln131Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.343C>T
  hgvsp: ENSP00000412170.2:p.Gln115Ter
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.607C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln224Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-27861811-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861811
    reference: chr 2
allele count: 192
allele frequency: 1.583087350142643e-3
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.393A>C
  hgvsp: ENSP00000398115.1:p.Gln131His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.594A>C
  hgvsp: ENSP00000384255.3:p.Gln198His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.393A>C
  hgvsp: ENSP00000424678.1:p.Gln131His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*301A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.345A>C
  hgvsp: ENSP00000427269.1:p.Gln115His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.609A>C
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.345A>C
  hgvsp: ENSP00000412170.2:p.Gln115His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.672A>C
  hgvsp: ENSP00000264718.3:p.Gln224His
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.630A>C
  hgvsp: ENSP00000476446.1:p.Gln210His
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln224His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-27861829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861829
    reference: chr 2
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.411G>A
  hgvsp: ENST00000515877.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000395981
  ensembl transcript: ENST00000436280
  gene symbol: GPN1
  hgvsc: ENST00000436280.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.363G>A
  hgvsp: ENST00000503738.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.363G>A
  hgvsp: ENST00000458167.2:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.648G>A
  hgvsp: ENST00000610189.1:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.411G>A
  hgvsp: ENST00000424214.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.612G>A
  hgvsp: ENST00000407583.3:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.690G>A
  hgvsp: ENST00000264718.3:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.627G>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu230Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-27861835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861835
    reference: chr 2
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.696A>G
  hgvsp: ENST00000264718.3:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.417A>G
  hgvsp: ENST00000424214.1:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.633A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.417A>G
  hgvsp: ENST00000515877.1:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.369A>G
  hgvsp: ENST00000503738.1:c.369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.369A>G
  hgvsp: ENST00000458167.2:c.369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.618A>G
  hgvsp: ENST00000407583.3:c.618A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.654A>G
  hgvsp: ENST00000610189.1:c.654A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr232Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-27861838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861838
    reference: chr 2
allele count: 29
allele frequency: 2.392620827351781e-4
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.699C>T
  hgvsp: ENST00000264718.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.372C>T
  hgvsp: ENST00000458167.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.420C>T
  hgvsp: ENST00000515877.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.657C>T
  hgvsp: ENST00000610189.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.420C>T
  hgvsp: ENST00000424214.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.621C>T
  hgvsp: ENST00000407583.3:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.372C>T
  hgvsp: ENST00000503738.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.636C>T
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr233Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-27861839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861839
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.373G>A
  hgvsp: ENSP00000427269.1:p.Val125Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.421G>A
  hgvsp: ENSP00000398115.1:p.Val141Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.700G>A
  hgvsp: ENSP00000264718.3:p.Val234Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.373G>A
  hgvsp: ENSP00000412170.2:p.Val125Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.421G>A
  hgvsp: ENSP00000424678.1:p.Val141Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.622G>A
  hgvsp: ENSP00000384255.3:p.Val208Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.658G>A
  hgvsp: ENSP00000476446.1:p.Val220Ile
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.637G>A
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val234Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-27861839-GTCAGTAACCTGAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861826
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsp: ENSP00000384255.3:p.Ser209ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsp: ENSP00000412170.2:p.Ser126ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsp: ENSP00000398115.1:p.Ser142ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsp: ENSP00000427269.1:p.Ser126ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsp: ENSP00000264718.3:p.Ser235ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsp: ENSP00000476446.1:p.Ser221ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsp: ENSP00000424678.1:p.Ser142ValfsTer3
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser235ValfsTer3
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: GTCAGTAACCTGAC
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

2-27861841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861841
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.660C>T
  hgvsp: ENST00000610189.1:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.375C>T
  hgvsp: ENST00000458167.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.423C>T
  hgvsp: ENST00000424214.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.423C>T
  hgvsp: ENST00000515877.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.702C>T
  hgvsp: ENST00000264718.3:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.624C>T
  hgvsp: ENST00000407583.3:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.639C>T
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.375C>T
  hgvsp: ENST00000503738.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val234Val
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: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-27861842-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861842
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.703A>G
  hgvsp: ENSP00000264718.3:p.Ser235Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.640A>G
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.424A>G
  hgvsp: ENSP00000424678.1:p.Ser142Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.376A>G
  hgvsp: ENSP00000427269.1:p.Ser126Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.376A>G
  hgvsp: ENSP00000412170.2:p.Ser126Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.424A>G
  hgvsp: ENSP00000398115.1:p.Ser142Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.625A>G
  hgvsp: ENSP00000384255.3:p.Ser209Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.661A>G
  hgvsp: ENSP00000476446.1:p.Ser221Gly
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser235Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-27861843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861843
    reference: chr 2
allele count: 4
allele frequency: 3.30114714863415e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.626G>A
  hgvsp: ENSP00000384255.3:p.Ser209Asn
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.425G>A
  hgvsp: ENSP00000398115.1:p.Ser142Asn
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.641G>A
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.377G>A
  hgvsp: ENSP00000427269.1:p.Ser126Asn
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.425G>A
  hgvsp: ENSP00000424678.1:p.Ser142Asn
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.662G>A
  hgvsp: ENSP00000476446.1:p.Ser221Asn
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.704G>A
  hgvsp: ENSP00000264718.3:p.Ser235Asn
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.377G>A
  hgvsp: ENSP00000412170.2:p.Ser126Asn
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser235Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-27861854-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27861854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27861854
    reference: chr 2
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000427269
  ensembl transcript: ENST00000503738
  gene symbol: GPN1
  hgvsc: ENST00000503738.1:c.388C>G
  hgvsp: ENSP00000427269.1:p.Arg130Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000476446
  ensembl transcript: ENST00000610189
  gene symbol: GPN1
  hgvsc: ENST00000610189.1:c.673C>G
  hgvsp: ENSP00000476446.1:p.Arg225Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000398115
  ensembl transcript: ENST00000424214
  gene symbol: GPN1
  hgvsc: ENST00000424214.1:c.436C>G
  hgvsp: ENSP00000398115.1:p.Arg146Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000424678
  ensembl transcript: ENST00000515877
  gene symbol: GPN1
  hgvsc: ENST00000515877.1:c.436C>G
  hgvsp: ENSP00000424678.1:p.Arg146Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000412170
  ensembl transcript: ENST00000458167
  gene symbol: GPN1
  hgvsc: ENST00000458167.2:c.388C>G
  hgvsp: ENSP00000412170.2:p.Arg130Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000384255
  ensembl transcript: ENST00000407583
  gene symbol: GPN1
  hgvsc: ENST00000407583.3:c.637C>G
  hgvsp: ENSP00000384255.3:p.Arg213Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198522
  ensembl protein: ENSP00000264718
  ensembl transcript: ENST00000264718
  gene symbol: GPN1
  hgvsc: ENST00000264718.3:c.715C>G
  hgvsp: ENSP00000264718.3:p.Arg239Gly
  variant of: http://identifiers.org/hgnc/17030
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198522
  ensembl transcript: ENST00000461249
  gene symbol: GPN1
  hgvsc: ENST00000461249.1:n.652C>G
  variant of: http://identifiers.org/hgnc/17030
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Arg239Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9407
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 940
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 16334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 2.422493e6

FS
type: SiteQuality
SIO_000300: 1.828e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9402
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 940
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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: 16362
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

DP
type: SiteQuality
SIO_000300: 2.423446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.796e1

QD
type: SiteQuality
SIO_000300: 7.8e0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9401
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31498
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.04989630352568e-4
allele num: 16394
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: 10404
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: 11572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 1.524e0

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 2.42599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.791e1

VQSLOD
type: SiteQuality
SIO_000300: -1.576e0

GenotypeQuality
all individuals: 2638
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9396
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 31509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

DP
type: SiteQuality
SIO_000300: 2.426241e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

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

GenotypeQuality
all individuals: 9395
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.616e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.728e0

DP
type: SiteQuality
SIO_000300: 2.426404e6

FS
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 2.813e1

GenotypeQuality
all individuals: 941
bin: 9.25e1
variant carriers: 0

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66640
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South Asian
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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QD
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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European (Non-Finnish)
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allele num: 66640
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Latino
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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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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South Asian
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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num of homozygotes: 0

Other
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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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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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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DP
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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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African
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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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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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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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Other
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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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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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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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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MQRankSum
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VQSLOD
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MQ
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 2.405653e6

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2609
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
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: 15728
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.778e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 2.405653e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

GenotypeQuality
all individuals: 2597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10333
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9540
bin: 9.75e1
variant carriers: 2561

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 1325
allele frequency: 1.274038461538461e-1
allele num: 10400
num of homozygotes: 92

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.333333333333333e-2
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 118
allele frequency: 1.020937878525697e-2
allele num: 11558
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 139
allele frequency: 2.101602661022074e-2
allele num: 6614
num of homozygotes: 2

South Asian
type: Population
allele count: 40
allele frequency: 2.550044625780951e-3
allele num: 15686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1028
allele frequency: 1.549499577957313e-2
allele num: 66344
num of homozygotes: 7

QD
type: SiteQuality
SIO_000300: 1.433e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e0

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

DP
type: SiteQuality
SIO_000300: 2.403773e6

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7350
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14772
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

DP
type: SiteQuality
SIO_000300: 2.195965e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.909e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6027
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2711
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522116350573838e-5
allele num: 65698
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.137956e6

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 702
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3938
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14138
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.035e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.029e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

DP
type: SiteQuality
SIO_000300: 2.098976e6

GenotypeQuality
all individuals: 2542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5596
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 33
allele frequency: 3.912734171211762e-3
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65068
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.20978196817914e-4
allele num: 13576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

DP
type: SiteQuality
SIO_000300: 2.060938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.038e0

GenotypeQuality
all individuals: 2333
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6271
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7307
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.487e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 1.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
type: SiteQuality
SIO_000300: 1.997391e6

GenotypeQuality
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7307
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4440
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.935834155972359e-4
allele num: 8104
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.487e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

FS
type: SiteQuality
SIO_000300: 1.797e0

DP
type: SiteQuality
SIO_000300: 1.997391e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8659
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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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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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.542590935735662e-5
allele num: 64826
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QD
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 4.104127579737336e-3
allele num: 8528
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African
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European (Non-Finnish)
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South Asian
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Other
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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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MQ
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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South Asian
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allele num: 16212
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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SIO_000300: 6.0e-1

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
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African
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Other
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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African
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MQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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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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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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European (Finnish)
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Other
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QD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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European (Finnish)
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MQ
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Latino
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Other
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South Asian
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FS
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.055503e6

FS
type: SiteQuality
SIO_000300: 1.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523249502442555e-5
allele num: 66324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.173e1

FS
type: SiteQuality
SIO_000300: 9.61e-1

BaseQRankSum
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SIO_000300: 2.79e0

DP
type: SiteQuality
SIO_000300: 2.055443e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-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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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.898e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
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SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 2.054547e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 2.673e0

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.051231e6

MQ
type: SiteQuality
SIO_000300: 5.783e1

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

FS
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

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: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.049373e6

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: 5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.554924299658518e-5
allele num: 66182
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

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

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

DP
type: SiteQuality
SIO_000300: 2.043781e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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allele num: 11436
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22773
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519110408944522e-5
allele num: 65828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 1.963647e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.458e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 4.233e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 808
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.834e0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.960528e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

DP
type: SiteQuality
SIO_000300: 1.946351e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.437e1

VQSLOD
type: SiteQuality
SIO_000300: -1.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.261e1

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
all individuals: 4761
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GenotypeQuality
all individuals: 1962
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536192700012289e-5
allele num: 65096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.947526e6

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

FS
type: SiteQuality
SIO_000300: 3.882e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 8.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 3285
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.476245654692932e-4
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

DP
type: SiteQuality
SIO_000300: 2.50101e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.606e0

GenotypeQuality
all individuals: 1817
bin: 6.25e1
variant carriers: 239

GenotypeQuality
all individuals: 333
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variant carriers: 127

GenotypeQuality
all individuals: 84
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variant carriers: 34

GenotypeQuality
all individuals: 622
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variant carriers: 280

GenotypeQuality
all individuals: 109
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variant carriers: 67

GenotypeQuality
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variant carriers: 317

GenotypeQuality
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variant carriers: 145

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 185

GenotypeQuality
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variant carriers: 270

GenotypeQuality
all individuals: 1260
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variant carriers: 391

GenotypeQuality
all individuals: 1083
bin: 7.75e1
variant carriers: 323

GenotypeQuality
all individuals: 851
bin: 8.75e1
variant carriers: 260

Latino
type: Population
allele count: 3844
allele frequency: 3.346682918335365e-1
allele num: 11486
num of homozygotes: 651

African
type: Population
allele count: 2104
allele frequency: 2.041133100504463e-1
allele num: 10308
num of homozygotes: 210

East Asian
type: Population
allele count: 801
allele frequency: 9.294499883963797e-2
allele num: 8618
num of homozygotes: 36

Other
type: Population
allele count: 408
allele frequency: 4.668192219679634e-1
allele num: 874
num of homozygotes: 95

South Asian
type: Population
allele count: 7643
allele frequency: 5.175379198266522e-1
allele num: 14768
num of homozygotes: 1985

European (Non-Finnish)
type: Population
allele count: 35742
allele frequency: 5.441839220462851e-1
allele num: 65680
num of homozygotes: 9732

European (Finnish)
type: Population
allele count: 3576
allele frequency: 5.416540442290215e-1
allele num: 6602
num of homozygotes: 951

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.01e-2

DP
type: SiteQuality
SIO_000300: 2.788035e6

QD
type: SiteQuality
SIO_000300: 2.099e1

GenotypeQuality
all individuals: 1972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735207357279195e-4
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.091e1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 2.706435e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-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
all individuals: 1985
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51758885482745e-5
allele num: 65894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14854
num of homozygotes: 0

Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.225e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

QD
type: SiteQuality
SIO_000300: 2.298e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 2.709398e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-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
all individuals: 2612
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GenotypeQuality
all individuals: 2168
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.832e0

VQSLOD
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 2.710342e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65976
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 2.716175e6

BaseQRankSum
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SIO_000300: -3.096e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.071e0

FS
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 2.720325e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544215214032537e-5
allele num: 66018
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 2.720325e6

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.071e0

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.939e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

FS
type: SiteQuality
SIO_000300: 7.263e0

DP
type: SiteQuality
SIO_000300: 2.723358e6

QD
type: SiteQuality
SIO_000300: 1.641e1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-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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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 7
allele frequency: 6.751543209876543e-4
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.13e1

DP
type: SiteQuality
SIO_000300: 2.731143e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
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
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num of homozygotes: 0

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

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

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.91e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
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allele num: 11554
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
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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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South Asian
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allele frequency: 1.861966236345581e-4
allele num: 16112
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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MQ
type: SiteQuality
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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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
all individuals: 48
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 13
allele frequency: 1.953183689413744e-4
allele num: 66558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
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BaseQRankSum
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SIO_000300: -2.829e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.429e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
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SIO_000300: 2.763249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 7.433e0

QD
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SIO_000300: 1.501e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.381e0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.764392e6

ClippingRankSum
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SIO_000300: -2.268e0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.158e0

DP
type: SiteQuality
SIO_000300: 2.765807e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -8.335e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.767e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

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

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

African
type: Population
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.164e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.112e0

DP
type: SiteQuality
SIO_000300: 2.765915e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.038e0

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
all individuals: 25
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 170
allele frequency: 2.550484592072494e-3
allele num: 66654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819505094614265e-4
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.512279488066413e-4
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.1e-2

DP
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQRankSum
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SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
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BaseQRankSum
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SIO_000300: -1.065e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.844e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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FS
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SIO_000300: 3.189e0

DP
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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bin: 9.75e1
variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2625
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 22
allele frequency: 3.301716892784248e-4
allele num: 66632
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East Asian
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Latino
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allele frequency: 3.459010722933241e-4
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.083465141744738e-5
allele num: 16438
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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SIO_000300: -9.1e-2

DP
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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allele frequency: 8.647526807333103e-5
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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African
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Other
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South Asian
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allele frequency: 6.090133982947625e-5
allele num: 16420
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.767875e6

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.608e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66636
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Other
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FS
type: SiteQuality
SIO_000300: 2.825e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 66636
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Latino
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European (Finnish)
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African
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East Asian
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QD
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FS
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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