1-230824135-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824135
    reference: chr 1
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.542-31G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1475-31G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1652-34G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.400G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1652-31G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1510-31G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.719-31G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1304-31G>C
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42031
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-230824139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824139
    reference: chr 1
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.404A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1475-27A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1510-27A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1652-30A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1652-27A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1304-27A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.719-27A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.542-27A>G
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-230824140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824140
    reference: chr 1
allele count: 2
allele frequency: 1.649675014022238e-5
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.719-26T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.405T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1652-29T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1652-26T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1510-26T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1304-26T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1475-26T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.542-26T>C
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-230824141-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824142
    reference: chr 1
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1510-22dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1475-22dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1652-25dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.409dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.719-22dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.542-22dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1304-22dupA
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1652-22dupA
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-230824146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824146
    reference: chr 1
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.542-20C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1652-20C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1304-20C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.411C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1510-20C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.719-20C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1652-23C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1475-20C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-230824168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824168
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.721G>A
  hgvsp: ENSP00000442147.1:p.Ala241Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1654G>A
  hgvsp: ENSP00000355629.4:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1652-1G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1512G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1477G>A
  hgvsp: ENSP00000440349.1:p.Ala493Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1306G>A
  hgvsp: ENSP00000445724.1:p.Ala436Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.544G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.433G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1652-1G>A
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-230824170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824170
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1656C>T
  hgvsp: ENST00000366669.4:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1308C>T
  hgvsp: ENST00000535166.1:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1479C>T
  hgvsp: ENST00000534989.1:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1653C>T
  hgvsp: ENST00000366668.3:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.723C>T
  hgvsp: ENST00000546013.1:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1514C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.435C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.546C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1653C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-230824171-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824171
    reference: chr 1
allele count: 11
allele frequency: 9.063941990771259e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1654C>G
  hgvsp: ENSP00000355628.3:p.Leu552Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1657C>G
  hgvsp: ENSP00000355629.4:p.Leu553Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.436C>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.724C>G
  hgvsp: ENSP00000442147.1:p.Leu242Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1480C>G
  hgvsp: ENSP00000440349.1:p.Leu494Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1309C>G
  hgvsp: ENSP00000445724.1:p.Leu437Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1515C>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.547C>G
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu553Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-230824176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824176
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824176
    reference: chr 1
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.552G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1662G>A
  hgvsp: ENST00000366669.4:c.1662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.729G>A
  hgvsp: ENST00000546013.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1659G>A
  hgvsp: ENST00000366668.3:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1485G>A
  hgvsp: ENST00000534989.1:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1314G>A
  hgvsp: ENST00000535166.1:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1520G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.441G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu554Glu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-230824180-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824180
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1318T>C
  hgvsp: ENSP00000445724.1:p.Ser440Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.445T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.733T>C
  hgvsp: ENSP00000442147.1:p.Ser245Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1663T>C
  hgvsp: ENSP00000355628.3:p.Ser555Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1524T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.556T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1666T>C
  hgvsp: ENSP00000355629.4:p.Ser556Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1489T>C
  hgvsp: ENSP00000440349.1:p.Ser497Pro
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser556Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-230824185-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824185
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1668G>T
  hgvsp: ENSP00000355628.3:p.Gln556His
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1323G>T
  hgvsp: ENSP00000445724.1:p.Gln441His
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.450G>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.738G>T
  hgvsp: ENSP00000442147.1:p.Gln246His
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1671G>T
  hgvsp: ENSP00000355629.4:p.Gln557His
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1529G>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1494G>T
  hgvsp: ENSP00000440349.1:p.Gln498His
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.561G>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln557His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-230824187-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824187
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1531G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1325G>C
  hgvsp: ENSP00000445724.1:p.Ser442Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.740G>C
  hgvsp: ENSP00000442147.1:p.Ser247Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1496G>C
  hgvsp: ENSP00000440349.1:p.Ser499Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1670G>C
  hgvsp: ENSP00000355628.3:p.Ser557Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.563G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1673G>C
  hgvsp: ENSP00000355629.4:p.Ser558Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.452G>C
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser558Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-230824190-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824190
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1676C>G
  hgvsp: ENSP00000355629.4:p.Ser559Cys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.566C>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.455C>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1534C>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1673C>G
  hgvsp: ENSP00000355628.3:p.Ser558Cys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1499C>G
  hgvsp: ENSP00000440349.1:p.Ser500Cys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1328C>G
  hgvsp: ENSP00000445724.1:p.Ser443Cys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.743C>G
  hgvsp: ENSP00000442147.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser559Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-230824195-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824195
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1333T>G
  hgvsp: ENSP00000445724.1:p.Ser445Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1504T>G
  hgvsp: ENSP00000440349.1:p.Ser502Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1681T>G
  hgvsp: ENSP00000355629.4:p.Ser561Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1539T>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.748T>G
  hgvsp: ENSP00000442147.1:p.Ser250Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1678T>G
  hgvsp: ENSP00000355628.3:p.Ser560Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.571T>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.460T>G
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser561Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-230824214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824214
    reference: chr 1
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1558T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1352T>C
  hgvsp: ENSP00000445724.1:p.Leu451Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.590T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.479T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1523T>C
  hgvsp: ENSP00000440349.1:p.Leu508Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.767T>C
  hgvsp: ENSP00000442147.1:p.Leu256Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1697T>C
  hgvsp: ENSP00000355628.3:p.Leu566Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1700T>C
  hgvsp: ENSP00000355629.4:p.Leu567Ser
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu567Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-230824215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824215
    reference: chr 1
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1698G>A
  hgvsp: ENST00000366668.3:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1559G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.480G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.768G>A
  hgvsp: ENST00000546013.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1701G>A
  hgvsp: ENST00000366669.4:c.1701G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1353G>A
  hgvsp: ENST00000535166.1:c.1353G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.591G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1524G>A
  hgvsp: ENST00000534989.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6852
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu567Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-230824215-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824215
    reference: chr 1
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.768G>T
  hgvsp: ENSP00000442147.1:p.Leu256Phe
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1353G>T
  hgvsp: ENSP00000445724.1:p.Leu451Phe
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.480G>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1701G>T
  hgvsp: ENSP00000355629.4:p.Leu567Phe
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.591G>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1559G>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1524G>T
  hgvsp: ENSP00000440349.1:p.Leu508Phe
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1698G>T
  hgvsp: ENSP00000355628.3:p.Leu566Phe
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu567Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-230824219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824219
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1705A>G
  hgvsp: ENSP00000355629.4:p.Ser569Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1357A>G
  hgvsp: ENSP00000445724.1:p.Ser453Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1702A>G
  hgvsp: ENSP00000355628.3:p.Ser568Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1563A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.595A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1528A>G
  hgvsp: ENSP00000440349.1:p.Ser510Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.484A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.772A>G
  hgvsp: ENSP00000442147.1:p.Ser258Gly
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6862
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser569Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-230824223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824223
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824223
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1709A>G
  hgvsp: ENSP00000355629.4:p.Lys570Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1532A>G
  hgvsp: ENSP00000440349.1:p.Lys511Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.599A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.488A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1567A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.776A>G
  hgvsp: ENSP00000442147.1:p.Lys259Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1706A>G
  hgvsp: ENSP00000355628.3:p.Lys569Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1361A>G
  hgvsp: ENSP00000445724.1:p.Lys454Arg
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys570Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-230824254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824254
    reference: chr 1
allele count: 22
allele frequency: 1.812220959159129e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.519C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1392C>T
  hgvsp: ENST00000535166.1:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1740C>T
  hgvsp: ENST00000366669.4:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1598C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.807C>T
  hgvsp: ENST00000546013.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1737C>T
  hgvsp: ENST00000366668.3:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.630C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1563C>T
  hgvsp: ENST00000534989.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42004
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6842
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe580Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-230824255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824255
    reference: chr 1
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1393G>A
  hgvsp: ENSP00000445724.1:p.Gly465Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1741G>A
  hgvsp: ENSP00000355629.4:p.Gly581Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.808G>A
  hgvsp: ENSP00000442147.1:p.Gly270Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.631G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1599G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1564G>A
  hgvsp: ENSP00000440349.1:p.Gly522Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1738G>A
  hgvsp: ENSP00000355628.3:p.Gly580Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.520G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly581Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-230824269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824269
    reference: chr 1
allele count: 14
allele frequency: 1.153364529097739e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1578C>T
  hgvsp: ENST00000534989.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.534C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1752C>T
  hgvsp: ENST00000366668.3:c.1752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1755C>T
  hgvsp: ENST00000366669.4:c.1755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1407C>T
  hgvsp: ENST00000535166.1:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1613C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.822C>T
  hgvsp: ENST00000546013.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.645C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser585Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-230824274-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824274
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.539T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1618T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.827T>C
  hgvsp: ENSP00000442147.1:p.Leu276Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000482012
  gene symbol: COG2
  hgvsc: ENST00000482012.1:n.650T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1757T>C
  hgvsp: ENSP00000355628.3:p.Leu586Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1760T>C
  hgvsp: ENSP00000355629.4:p.Leu587Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1412T>C
  hgvsp: ENSP00000445724.1:p.Leu471Pro
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1583T>C
  hgvsp: ENSP00000440349.1:p.Leu528Pro
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu587Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ

1-230824277-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824277
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.830A>T
  hgvsp: ENSP00000442147.1:p.Glu277Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1763A>T
  hgvsp: ENSP00000355629.4:p.Glu588Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1760A>T
  hgvsp: ENSP00000355628.3:p.Glu587Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1621A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1586A>T
  hgvsp: ENSP00000440349.1:p.Glu529Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1415A>T
  hgvsp: ENSP00000445724.1:p.Glu472Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.542A>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42000
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu588Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-230824279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824279
    reference: chr 1
allele count: 857
allele frequency: 7.061402063214792e-3
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1765G>A
  hgvsp: ENSP00000355629.4:p.Val589Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1762G>A
  hgvsp: ENSP00000355628.3:p.Val588Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1588G>A
  hgvsp: ENSP00000440349.1:p.Val530Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1417G>A
  hgvsp: ENSP00000445724.1:p.Val473Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.832G>A
  hgvsp: ENSP00000442147.1:p.Val278Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.544G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1623G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 6.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 8.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42156
  bin: 9.75e1
  variant carriers: 837
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val589Ile
num of homozygotes: 19
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-230824295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824295
    reference: chr 1
allele count: 4
allele frequency: 3.298588204248581e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1604G>A
  hgvsp: ENSP00000440349.1:p.Arg535Gln
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1433G>A
  hgvsp: ENSP00000445724.1:p.Arg478Gln
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.560G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1781G>A
  hgvsp: ENSP00000355629.4:p.Arg594Gln
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1778G>A
  hgvsp: ENSP00000355628.3:p.Arg593Gln
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1639G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.848G>A
  hgvsp: ENSP00000442147.1:p.Arg283Gln
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg594Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-230824304-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824304
    reference: chr 1
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.569A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1790A>G
  hgvsp: ENSP00000355629.4:p.Asn597Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.857A>G
  hgvsp: ENSP00000442147.1:p.Asn286Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1613A>G
  hgvsp: ENSP00000440349.1:p.Asn538Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1787A>G
  hgvsp: ENSP00000355628.3:p.Asn596Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1648A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1442A>G
  hgvsp: ENSP00000445724.1:p.Asn481Ser
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn597Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-230824305-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824305
    reference: chr 1
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.858T>A
  hgvsp: ENSP00000442147.1:p.Asn286Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1649T>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.570T>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1788T>A
  hgvsp: ENSP00000355628.3:p.Asn596Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1791T>A
  hgvsp: ENSP00000355629.4:p.Asn597Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1443T>A
  hgvsp: ENSP00000445724.1:p.Asn481Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1614T>A
  hgvsp: ENSP00000440349.1:p.Asn538Lys
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41801
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn597Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-230824305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824305
    reference: chr 1
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1649T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1443T>C
  hgvsp: ENST00000535166.1:c.1443T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.858T>C
  hgvsp: ENST00000546013.1:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1788T>C
  hgvsp: ENST00000366668.3:c.1788T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.570T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1791T>C
  hgvsp: ENST00000366669.4:c.1791T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1614T>C
  hgvsp: ENST00000534989.1:c.1614T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41801
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn597Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-230824314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824314
    reference: chr 1
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+6C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+6C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+6C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+6C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+6C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+6C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+6C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1794+6C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-230824315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824315
    reference: chr 1
allele count: 8
allele frequency: 6.615397337302572e-5
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+7G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+7G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+7G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+7G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+7G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+7G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+7G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41800
  bin: 9.75e1
  variant carriers: 8
hgvs: c.1794+7G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-230824316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824316
    reference: chr 1
allele count: 3
allele frequency: 2.480774001488464e-5
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+8C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+8C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+8C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+8C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+8C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+8C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+8C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41796
  bin: 9.75e1
  variant carriers: 3
hgvs: c.1794+8C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-230824325-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824325
    reference: chr 1
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+17G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+17G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+17G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+17G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+17G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+17G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+17G>C
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-230824328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824328
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+20G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+20G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+20G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+20G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+20G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+20G>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+20G>C
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-230824348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824348
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824348
    reference: chr 1
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+40G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+40G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+40G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+40G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+40G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+40G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+40G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-230824353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824353
    reference: chr 1
allele count: 3
allele frequency: 2.491487417988539e-5
allele num: 120410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+45T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+45T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+45T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+45T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+45T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+45T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+45T>C
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

1-230824360-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230824360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230824360
    reference: chr 1
allele count: 4
allele frequency: 3.326735308305194e-5
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1794+52A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1791+52A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.573+52A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1652+52A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1446+52A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.861+52A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1617+52A>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
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genotype depth: GenotypeDepth
  all individuals: 6539
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genotype depth: GenotypeDepth
  all individuals: 4127
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-230825713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825713
    reference: chr 1
allele count: 1
allele frequency: 8.719155985700584e-6
allele num: 114690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.7T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-47T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-47T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-47T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-47T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-47T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-47T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-47T>C
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-230825716-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825715
    reference: chr 1
allele count: 6
allele frequency: 5.238070294903357e-5
allele num: 114546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-37delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-37delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-37delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.17delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-37delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-37delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-37delT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-37delT
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37988
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: GT
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-230825718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825718
    reference: chr 1
allele count: 6
allele frequency: 5.228940442368362e-5
allele num: 114746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-42T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-42T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.12T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-42T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-42T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-42T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-42T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-42T>C
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-230825723-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825723
    reference: chr 1
allele count: 1
allele frequency: 8.704886923518864e-6
allele num: 114878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-37T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.17T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-37T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-37T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-37T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-37T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-37T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-37T>C
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-230825725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825725
    reference: chr 1
allele count: 1
allele frequency: 8.703674691454733e-6
allele num: 114894
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-35C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-35C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-35C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-35C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.19C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-35C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-35C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-35C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-230825727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825727
    reference: chr 1
allele count: 1
allele frequency: 8.686889745995344e-6
allele num: 115116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-33G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-33G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.21G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-33G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-33G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-33G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-33G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-33G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-230825737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825737
    reference: chr 1
allele count: 23
allele frequency: 1.986251683995993e-4
allele num: 115796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-23A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-23A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-23A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.31A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-23A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-23A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-23A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-23A>G
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-230825742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825742
    reference: chr 1
allele count: 1
allele frequency: 8.608815426997244e-6
allele num: 116160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.36C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-18C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-18C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-18C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-18C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-18C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-18C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-18C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-230825753-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825753
    reference: chr 1
allele count: 1
allele frequency: 8.505137102810097e-6
allele num: 117576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1653-7A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.862-7A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1618-7A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.47A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1795-7A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.574-7A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1447-7A>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1792-7A>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1795-7A>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-230825770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825770
    reference: chr 1
allele count: 14
allele frequency: 1.174614894116857e-4
allele num: 119188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.872C>T
  hgvsp: ENSP00000442147.1:p.Thr291Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1628C>T
  hgvsp: ENSP00000440349.1:p.Thr543Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1802C>T
  hgvsp: ENSP00000355628.3:p.Thr601Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1663C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.64C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1457C>T
  hgvsp: ENSP00000445724.1:p.Thr486Ile
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.584C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1805C>T
  hgvsp: ENSP00000355629.4:p.Thr602Ile
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr602Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-230825772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825772
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825772
    reference: chr 1
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.874A>G
  hgvsp: ENSP00000442147.1:p.Thr292Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.586A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1459A>G
  hgvsp: ENSP00000445724.1:p.Thr487Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1630A>G
  hgvsp: ENSP00000440349.1:p.Thr544Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1807A>G
  hgvsp: ENSP00000355629.4:p.Thr603Ala
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.66A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1665A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1804A>G
  hgvsp: ENSP00000355628.3:p.Thr602Ala
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr603Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-230825776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825776
    reference: chr 1
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1463C>T
  hgvsp: ENSP00000445724.1:p.Ala488Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.70C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1669C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1811C>T
  hgvsp: ENSP00000355629.4:p.Ala604Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1634C>T
  hgvsp: ENSP00000440349.1:p.Ala545Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.878C>T
  hgvsp: ENSP00000442147.1:p.Ala293Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1808C>T
  hgvsp: ENSP00000355628.3:p.Ala603Val
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.590C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala604Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-230825779-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825779
    reference: chr 1
allele count: 2
allele frequency: 1.667472611762352e-5
allele num: 119942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.593C>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.881C>A
  hgvsp: ENSP00000442147.1:p.Ser294Tyr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1637C>A
  hgvsp: ENSP00000440349.1:p.Ser546Tyr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1814C>A
  hgvsp: ENSP00000355629.4:p.Ser605Tyr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.73C>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1811C>A
  hgvsp: ENSP00000355628.3:p.Ser604Tyr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1466C>A
  hgvsp: ENSP00000445724.1:p.Ser489Tyr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1672C>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser605Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

1-230825786-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825786
    reference: chr 1
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1473T>A
  hgvsp: ENSP00000445724.1:p.Tyr491Ter
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.888T>A
  hgvsp: ENSP00000442147.1:p.Tyr296Ter
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1644T>A
  hgvsp: ENSP00000440349.1:p.Tyr548Ter
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1679T>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1821T>A
  hgvsp: ENSP00000355629.4:p.Tyr607Ter
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.600T>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1818T>A
  hgvsp: ENSP00000355628.3:p.Tyr606Ter
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.80T>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr607Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-230825790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825790
    reference: chr 1
allele count: 24
allele frequency: 1.991899608259744e-4
allele num: 120488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1683G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1648G>A
  hgvsp: ENSP00000440349.1:p.Asp550Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.604G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1825G>A
  hgvsp: ENSP00000355629.4:p.Asp609Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1822G>A
  hgvsp: ENSP00000355628.3:p.Asp608Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.84G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.892G>A
  hgvsp: ENSP00000442147.1:p.Asp298Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1477G>A
  hgvsp: ENSP00000445724.1:p.Asp493Asn
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp609Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-230825791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825791
    reference: chr 1
allele count: 3
allele frequency: 2.488717812582957e-5
allele num: 120544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1684A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1478A>G
  hgvsp: ENSP00000445724.1:p.Asp493Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.893A>G
  hgvsp: ENSP00000442147.1:p.Asp298Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.85A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1823A>G
  hgvsp: ENSP00000355628.3:p.Asp608Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.605A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1649A>G
  hgvsp: ENSP00000440349.1:p.Asp550Gly
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1826A>G
  hgvsp: ENSP00000355629.4:p.Asp609Gly
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp609Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-230825798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825798
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825798
    reference: chr 1
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.92T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.900T>C
  hgvsp: ENST00000546013.1:c.900T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1833T>C
  hgvsp: ENST00000366669.4:c.1833T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1485T>C
  hgvsp: ENST00000535166.1:c.1485T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.612T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1656T>C
  hgvsp: ENST00000534989.1:c.1656T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1691T>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1830T>C
  hgvsp: ENST00000366668.3:c.1830T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala611Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-230825807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825807
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825807
    reference: chr 1
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1842C>T
  hgvsp: ENST00000366669.4:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1665C>T
  hgvsp: ENST00000534989.1:c.1665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1494C>T
  hgvsp: ENST00000535166.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1839C>T
  hgvsp: ENST00000366668.3:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1700C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.101C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.621C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.909C>T
  hgvsp: ENST00000546013.1:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro614Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

1-230825825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825825
    reference: chr 1
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.639C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1857C>T
  hgvsp: ENST00000366668.3:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.927C>T
  hgvsp: ENST00000546013.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1860C>T
  hgvsp: ENST00000366669.4:c.1860C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1512C>T
  hgvsp: ENST00000535166.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1683C>T
  hgvsp: ENST00000534989.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.119C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1718C>T
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser620Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

1-230825826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825826
    reference: chr 1
allele count: 6
allele frequency: 4.950985246063966e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1861G>A
  hgvsp: ENSP00000355629.4:p.Gly621Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.640G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1513G>A
  hgvsp: ENSP00000445724.1:p.Gly505Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.928G>A
  hgvsp: ENSP00000442147.1:p.Gly310Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1858G>A
  hgvsp: ENSP00000355628.3:p.Gly620Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1684G>A
  hgvsp: ENSP00000440349.1:p.Gly562Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1719G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.120G>A
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37959
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly621Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-230825838-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825838
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1696A>G
  hgvsp: ENSP00000440349.1:p.Lys566Glu
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1731A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.940A>G
  hgvsp: ENSP00000442147.1:p.Lys314Glu
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1525A>G
  hgvsp: ENSP00000445724.1:p.Lys509Glu
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1873A>G
  hgvsp: ENSP00000355629.4:p.Lys625Glu
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.132A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1870A>G
  hgvsp: ENSP00000355628.3:p.Lys624Glu
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.652A>G
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys625Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

1-230825842-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825842
    reference: chr 1
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.136T>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1700T>G
  hgvsp: ENSP00000440349.1:p.Leu567Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1735T>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.944T>G
  hgvsp: ENSP00000442147.1:p.Leu315Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1877T>G
  hgvsp: ENSP00000355629.4:p.Leu626Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1874T>G
  hgvsp: ENSP00000355628.3:p.Leu625Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.656T>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1529T>G
  hgvsp: ENSP00000445724.1:p.Leu510Arg
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu626Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-230825845-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825845
    reference: chr 1
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1532A>C
  hgvsp: ENSP00000445724.1:p.Lys511Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1880A>C
  hgvsp: ENSP00000355629.4:p.Lys627Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1877A>C
  hgvsp: ENSP00000355628.3:p.Lys626Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.139A>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.947A>C
  hgvsp: ENSP00000442147.1:p.Lys316Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1738A>C
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1703A>C
  hgvsp: ENSP00000440349.1:p.Lys568Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.659A>C
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9861
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys627Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-230825848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825848
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1535A>G
  hgvsp: ENSP00000445724.1:p.Gln512Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1741A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1880A>G
  hgvsp: ENSP00000355628.3:p.Gln627Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.662A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1706A>G
  hgvsp: ENSP00000440349.1:p.Gln569Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.950A>G
  hgvsp: ENSP00000442147.1:p.Gln317Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1883A>G
  hgvsp: ENSP00000355629.4:p.Gln628Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.142A>G
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln628Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-230825850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825850
    reference: chr 1
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.952G>A
  hgvsp: ENSP00000442147.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.664G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1882G>A
  hgvsp: ENSP00000355628.3:p.Ala628Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1885G>A
  hgvsp: ENSP00000355629.4:p.Ala629Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.144G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1743G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1708G>A
  hgvsp: ENSP00000440349.1:p.Ala570Thr
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1537G>A
  hgvsp: ENSP00000445724.1:p.Ala513Thr
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala629Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-230825871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825871
    reference: chr 1
allele count: 3
allele frequency: 2.484842460987973e-5
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1729G>A
  hgvsp: ENSP00000440349.1:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.973G>A
  hgvsp: ENSP00000442147.1:p.Glu325Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.685G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.165G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1903G>A
  hgvsp: ENSP00000355628.3:p.Glu635Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1906G>A
  hgvsp: ENSP00000355629.4:p.Glu636Lys
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1764G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1558G>A
  hgvsp: ENSP00000445724.1:p.Glu520Lys
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu636Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-230825874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825874
    reference: chr 1
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1906G>A
  hgvsp: ENSP00000355628.3:p.Gly636Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1561G>A
  hgvsp: ENSP00000445724.1:p.Gly521Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.168G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1909G>A
  hgvsp: ENSP00000355629.4:p.Gly637Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.976G>A
  hgvsp: ENSP00000442147.1:p.Gly326Ser
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1767G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.688G>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1732G>A
  hgvsp: ENSP00000440349.1:p.Gly578Ser
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly637Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-230825876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825876
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825876
    reference: chr 1
allele count: 22
allele frequency: 1.820920723733218e-4
allele num: 120818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.690C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1563C>T
  hgvsp: ENST00000535166.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.978C>T
  hgvsp: ENST00000546013.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1911C>T
  hgvsp: ENST00000366669.4:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1734C>T
  hgvsp: ENST00000534989.1:c.1734C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1769C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.170C>T
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1908C>T
  hgvsp: ENST00000366668.3:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly637Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-230825878-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825878
    reference: chr 1
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1910C>A
  hgvsp: ENSP00000355628.3:p.Thr637Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1736C>A
  hgvsp: ENSP00000440349.1:p.Thr579Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.692C>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.172C>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1913C>A
  hgvsp: ENSP00000355629.4:p.Thr638Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1565C>A
  hgvsp: ENSP00000445724.1:p.Thr522Asn
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1771C>A
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.980C>A
  hgvsp: ENSP00000442147.1:p.Thr327Asn
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr638Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-230825896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825896
    reference: chr 1
allele count: 2
allele frequency: 1.670732114812711e-5
allele num: 119708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.998A>G
  hgvsp: ENSP00000442147.1:p.His333Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1583A>G
  hgvsp: ENSP00000445724.1:p.His528Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1754A>G
  hgvsp: ENSP00000440349.1:p.His585Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1789A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.710A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1931A>G
  hgvsp: ENSP00000355629.4:p.His644Arg
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.190A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1928A>G
  hgvsp: ENSP00000355628.3:p.His643Arg
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His644Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-230825902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825902
    reference: chr 1
allele count: 4
allele frequency: 3.350757271143279e-5
allele num: 119376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.716A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.193+3A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1792+3A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1934+3A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1586+3A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1931+3A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1757+3A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.1001+3A>G
  variant of: http://identifiers.org/hgnc/6546
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1934+3A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-230825908-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825909
    reference: chr 1
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1792+11dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1934+11dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.1001+11dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.193+11dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1586+11dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1931+11dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.724dupT
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1757+11dupT
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-230825917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825917
    reference: chr 1
allele count: 1
allele frequency: 8.424741781664392e-6
allele num: 118698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.193+18A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1931+18A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.1001+18A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1586+18A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1757+18A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.731A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1792+18A>G
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1934+18A>G
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-230825925-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 230825925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 230825926
    reference: chr 1
allele count: 1
allele frequency: 8.470556346140815e-6
allele num: 118056
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000478710
  gene symbol: COG2
  hgvsc: ENST00000478710.1:n.193+29dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135775
  ensembl transcript: ENST00000490900
  gene symbol: COG2
  hgvsc: ENST00000490900.1:n.742dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000476305
  ensembl transcript: ENST00000468893
  gene symbol: COG2
  hgvsc: ENST00000468893.2:c.*1792+29dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000445724
  ensembl transcript: ENST00000535166
  gene symbol: COG2
  hgvsc: ENST00000535166.1:c.1586+29dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000440349
  ensembl transcript: ENST00000534989
  gene symbol: COG2
  hgvsc: ENST00000534989.1:c.1757+29dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000442147
  ensembl transcript: ENST00000546013
  gene symbol: COG2
  hgvsc: ENST00000546013.1:c.1001+29dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355628
  ensembl transcript: ENST00000366668
  gene symbol: COG2
  hgvsc: ENST00000366668.3:c.1931+29dupG
  variant of: http://identifiers.org/hgnc/6546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135775
  ensembl protein: ENSP00000355629
  ensembl transcript: ENST00000366669
  gene symbol: COG2
  hgvsc: ENST00000366669.4:c.1934+29dupG
  variant of: http://identifiers.org/hgnc/6546
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2083
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
SIO_000300: 3.230911e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.832e0

QD
type: SiteQuality
SIO_000300: 1.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.695e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2062
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 42030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 5.783e0

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 3.231712e6

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 2062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42029
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 3.231819e6

FS
type: SiteQuality
SIO_000300: 1.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 1341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2632
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6495
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 8.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 3.231959e6

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.457e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.899e1

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

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 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: 16492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.017e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 8.903e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 3.233015e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.398e0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2085
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1333
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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
allele num: 16508
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: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.235241e6

VQSLOD
type: SiteQuality
SIO_000300: -8.106e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

QD
type: SiteQuality
SIO_000300: 8.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2085
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 9.25e1
variant carriers: 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: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 7.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: -4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 3.235321e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42035
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.056935190793458e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.211e1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

DP
type: SiteQuality
SIO_000300: 3.235668e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 8648
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.235463e6

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.858e0

QD
type: SiteQuality
SIO_000300: 1.223e1

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: 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: 11574
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

DP
type: SiteQuality
SIO_000300: 3.23563e6

FS
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

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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variant carriers: 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: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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: 8646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 3.235686e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.242e0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 2.966e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
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bin: 1.25e1
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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bin: 9.75e1
variant carriers: 1

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: 16510
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

DP
type: SiteQuality
SIO_000300: 3.235674e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

Other
type: Population
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allele frequency: 0.0e0
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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: 11574
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
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Other
type: Population
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East Asian
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allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

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

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

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16510
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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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Other
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East Asian
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allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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SIO_000300: 2.1e0

ReadPosRankSum
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FS
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SIO_000300: 1.254e0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 19
allele frequency: 1.826571813112863e-3
allele num: 10402
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
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SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.234886e6

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

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 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: 66734
num of homozygotes: 0

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

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

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

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: 0

South Asian
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allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

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

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

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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QD
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InbreedingCoeff
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66728
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Other
type: Population
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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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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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MQRankSum
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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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African
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South Asian
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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DP
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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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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 18
allele frequency: 1.555209953343701e-3
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.84497332294227e-4
allele num: 66724
num of homozygotes: 0

Other
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allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 125
allele frequency: 7.571168988491823e-3
allele num: 16510
num of homozygotes: 0

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

African
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allele count: 658
allele frequency: 6.335451569420374e-2
allele num: 10386
num of homozygotes: 18

East Asian
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allele count: 12
allele frequency: 1.387604070305273e-3
allele num: 8648
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DP
type: SiteQuality
SIO_000300: 3.252295e6

ReadPosRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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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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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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South Asian
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allele frequency: 2.423361201987156e-4
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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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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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QD
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MQ
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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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European (Non-Finnish)
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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South Asian
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.5008254539997e-5
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South Asian
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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DP
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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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European (Non-Finnish)
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allele num: 66630
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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VQSLOD
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BaseQRankSum
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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South Asian
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African
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
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FS
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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African
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South Asian
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allele frequency: 4.849660523763337e-4
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European (Non-Finnish)
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East Asian
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Latino
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ClippingRankSum
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SIO_000300: 5.2e-2

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

European (Finnish)
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European (Non-Finnish)
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allele num: 66556
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Latino
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East Asian
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African
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Other
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South Asian
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MQ
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66512
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East Asian
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Latino
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African
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South Asian
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Other
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European (Finnish)
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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QD
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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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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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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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ClippingRankSum
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QD
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.179907e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.569e0

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
all individuals: 41782
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.023e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 3.176483e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.756e0

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 5.845e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.649000464900046e-4
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 2.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.895e0

DP
type: SiteQuality
SIO_000300: 3.173682e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1170
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variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65018
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.332e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 3.092229e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 749
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variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.925340707090658e-4
allele num: 10126
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: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11860
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.093617e6

QD
type: SiteQuality
SIO_000300: 1.766e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37990
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2214
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.911330049261083e-4
allele num: 10150
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.701000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.003e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

DP
type: SiteQuality
SIO_000300: 3.094215e6

FS
type: SiteQuality
SIO_000300: 6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

QD
type: SiteQuality
SIO_000300: 1.82e1

GenotypeQuality
all individuals: 200
bin: 1.25e1
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
all individuals: 50
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
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: 12042
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 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: 1.537042729787888e-5
allele num: 65060
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 8.602e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.258e-1

DP
type: SiteQuality
SIO_000300: 3.095516e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-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
all individuals: 20
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.305647840531562e-5
allele num: 12040
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.461e1

DP
type: SiteQuality
SIO_000300: 3.0975e6

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535532215465881e-5
allele num: 65124
num of homozygotes: 0

Other
type: Population
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.113e0

GenotypeQuality
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variant carriers: 23

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 117
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 120
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12644
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 1.960015680125441e-3
allele num: 10204
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531299767242435e-5
allele num: 65304
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.111383e6

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37984
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.751937984496124e-5
allele num: 12900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
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: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 3.115311e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.04e1

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
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GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13846
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

FS
type: SiteQuality
SIO_000300: 5.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.533e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.294e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.129841e6

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 14

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.682043717312592e-4
allele num: 14914
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35955769056467e-4
allele num: 66198
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.534e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 3.149506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2370
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2241
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
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variant carriers: 0

GenotypeQuality
all individuals: 37979
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variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.150298e6

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 5.178e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8288
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37978
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 15278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 1.899e0

DP
type: SiteQuality
SIO_000300: 3.154286e6

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

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

GenotypeQuality
all individuals: 2243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37978
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
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variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
all individuals: 1464
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 775
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GenotypeQuality
all individuals: 8597
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GenotypeQuality
all individuals: 1204
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01295570955107e-5
allele num: 66380
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.935e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 8.721e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e0

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 3.156674e6

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
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GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 2243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37977
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.355662895640016e-5
allele num: 15734
num of homozygotes: 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: 898
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: 11574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.414e1

FS
type: SiteQuality
SIO_000300: 3.22e0

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 3.161806e6

GenotypeQuality
all individuals: 9169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 105
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2425
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GenotypeQuality
all individuals: 2813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37977
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 2245
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 22
allele frequency: 1.900812165197857e-3
allele num: 11574
num of homozygotes: 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: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008061605101673e-5
allele num: 66488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

DP
type: SiteQuality
SIO_000300: 3.164954e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.554e0

QD
type: SiteQuality
SIO_000300: 1.307e1

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

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 8.25e1
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GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 37963
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9238
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GenotypeQuality
all individuals: 2816
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511549566891241e-5
allele num: 66496
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
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SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 3.163067e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.554e1

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: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 16118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.343e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 3.165774e6

MQRankSum
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SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.448e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 3.16808e6

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
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: 8652
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.170658e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.810467577448528e-4
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 1.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

DP
type: SiteQuality
SIO_000300: 3.170575e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.702e0

DP
type: SiteQuality
SIO_000300: 3.16985e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
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

FS
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

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

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

East Asian
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South Asian
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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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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African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.949e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.097e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

DP
type: SiteQuality
SIO_000300: 3.169245e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009510051763573e-5
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
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: 6578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.918e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.662e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.55061e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 3.171921e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e0

VQSLOD
type: SiteQuality
SIO_000300: -3.046e2

QD
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
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bin: 3.25e1
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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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 6.809699999999999e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 3.161337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

VQSLOD
type: SiteQuality
SIO_000300: -2.318e1

QD
type: SiteQuality
SIO_000300: 6.3e-1

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 3
bin: 1.25e1
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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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1183
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variant carriers: 0

GenotypeQuality
all individuals: 20
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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

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

African
type: Population
allele count: 22
allele frequency: 2.120277563608327e-3
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.160957e6

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.659e0

FS
type: SiteQuality
SIO_000300: 2.983e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.195e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

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

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 9219
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GenotypeQuality
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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: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2435
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 3.158173e6

VQSLOD
type: SiteQuality
SIO_000300: -3.158e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 2427
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variant carriers: 0

GenotypeQuality
all individuals: 421
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 25
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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
all individuals: 37936
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.279e0

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.357e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

DP
type: SiteQuality
SIO_000300: 3.132666e6

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: 37938
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534461910519952e-5
allele num: 66160
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.242e0

QD
type: SiteQuality
SIO_000300: 1.505e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 3.122671e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.610259122157589e-5
allele num: 15128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
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: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 6.098e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 3.115379e6

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

South Asian
type: Population
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: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.122e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 3.7471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 3.101383e6

MQRankSum
type: SiteQuality
SIO_000300: 3.26e0

VQSLOD
type: SiteQuality
SIO_000300: -8.708e0

ClippingRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
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variant carriers: 0