12-50529607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529607
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.210C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1409C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.606C>G
  hgvsp: ENST00000422340.2:c.606C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.780C>G
  hgvsp: ENST00000551697.1:c.780C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.185C>G
  hgvsp: ENST00000550547.1:c.185C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.88C>G
  hgvsp: ENST00000550919.1:c.88C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*134C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23523G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.491C>G
  hgvsp: ENST00000547800.1:c.491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*759C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.780C>G
  hgvsp: ENST00000317551.6:c.780C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.233C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*134C>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala260Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

12-50529610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529610
    reference: chr 12
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*756G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*131G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1406G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.207G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.603G>C
  hgvsp: ENST00000422340.2:c.603G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.488G>C
  hgvsp: ENST00000547800.1:c.488G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.182G>C
  hgvsp: ENST00000550547.1:c.182G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*131G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.230G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.777G>C
  hgvsp: ENST00000551697.1:c.777G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*131G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.85G>C
  hgvsp: ENST00000550919.1:c.85G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.777G>C
  hgvsp: ENST00000317551.6:c.777G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23526C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu259Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-50529624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529624
    reference: chr 12
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.74-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*120-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*745-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*120-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.219-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.477-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1395-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.592-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.196-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.766-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*120-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.766-3C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23540G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.171-3C>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.766-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-50529644-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529644
    reference: chr 12
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.171-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23560G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*120-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1395-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.766-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*120-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*120-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.766-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.196-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.592-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*745-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.477-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.74-23C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.219-23C>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-50529648-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529647
    reference: chr 12
allele count: 3
allele frequency: 2.499583402766205e-5
allele num: 120020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.171-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.766-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.74-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*120-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.477-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.766-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*120-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.592-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.196-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23568delG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*120-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1395-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*745-28delC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.219-28delC
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43386
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: TG
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-50529662-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529662
    reference: chr 12
allele count: 3
allele frequency: 2.524360074721058e-5
allele num: 118842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*120-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.766-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23578T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*120-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1395-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.196-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.219-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*120-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.74-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*745-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.477-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.171-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.592-41A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.766-41A>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-50529666-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529664
    reference: chr 12
allele count: 3
allele frequency: 2.535797000997414e-5
allele num: 118306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.74-47_74-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.171-47_171-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23585_105+23586delCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.592-47_592-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.219-47_219-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.196-47_196-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1395-47_1395-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.766-47_766-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*120-47_*120-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*745-47_*745-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.766-47_766-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.477-47_477-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*120-47_*120-46delTG
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*120-47_*120-46delTG
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: TCA
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-50529671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529671
    reference: chr 12
allele count: 1
allele frequency: 8.498198381943028e-6
allele num: 117672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*745-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.592-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23587T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.196-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*120-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.766-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1395-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.219-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.766-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.74-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.171-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*120-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*120-50A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.477-50A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-50529674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529674
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529674
    reference: chr 12
allele count: 3
allele frequency: 2.562306759365231e-5
allele num: 117082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23590G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+50C>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-50529681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529681
    reference: chr 12
allele count: 1
allele frequency: 8.617272460920669e-6
allele num: 116046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23597A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+43T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+43T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-50529684-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529681
    reference: chr 12
allele count: 1
allele frequency: 8.61341280642216e-6
allele num: 116098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+37_218+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+37_73+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+37_*119+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+37_*744+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23601_105+23603delGAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+37_195+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+37_591+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+37_765+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+37_170+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+37_1394+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+37_765+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+37_*119+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+37_*119+39delCTC
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+37_476+39delCTC
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: AGAG
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-50529685-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529682
    reference: chr 12
allele count: 12
allele frequency: 1.034411419902076e-4
allele num: 116008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+36_195+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+36_476+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+36_1394+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+36_*744+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+36_218+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+36_591+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23611_105+23613delAGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+36_170+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+36_*119+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+36_765+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+36_*119+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+36_73+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+36_765+38delTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+36_*119+38delTCT
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GAGA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

12-50529687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529687
    reference: chr 12
allele count: 1
allele frequency: 8.645582971659779e-6
allele num: 115666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+37C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23603G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

12-50529700-GAGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529696
    reference: chr 12
allele count: 7
allele frequency: 6.184619734238055e-5
allele num: 113184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+20_*119+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+20_170+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+20_1394+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+20_*744+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+20_765+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+20_195+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+20_218+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+20_*119+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+20_591+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+20_*119+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+20_765+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+20_476+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23620_105+23623delAAGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+20_73+23delTTCT
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: GAGAA
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-50529710-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529710
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529710
    reference: chr 12
allele count: 1
allele frequency: 8.900915014063446e-6
allele num: 112348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23626G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+14C>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+14C>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-50529721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529721
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529721
    reference: chr 12
allele count: 2
allele frequency: 1.793882859449278e-5
allele num: 111490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.73+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*744+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.591+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.476+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*119+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.765+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.195+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*119+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.765+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.218+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23637T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1394+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*119+3A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.170+3A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.765+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

12-50529727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529727
    reference: chr 12
allele count: 8
allele frequency: 7.197092374680629e-5
allele num: 111156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.167G>A
  hgvsp: ENST00000550547.1:c.167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.588G>A
  hgvsp: ENST00000422340.2:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.192G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.762G>A
  hgvsp: ENST00000317551.6:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.70G>A
  hgvsp: ENST00000550919.1:c.70G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1391G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.762G>A
  hgvsp: ENST00000551697.1:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.473G>A
  hgvsp: ENST00000547800.1:c.473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*116G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*116G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.215G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*116G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*741G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23643C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu254Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

12-50529736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529736
    reference: chr 12
allele count: 36444
allele frequency: 3.286085262930102e-1
allele num: 110904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.464C>T
  hgvsp: ENST00000547800.1:c.464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*732C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*107C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.158C>T
  hgvsp: ENST00000550547.1:c.158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.753C>T
  hgvsp: ENST00000551697.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.183C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*107C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.61C>T
  hgvsp: ENST00000550919.1:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.753C>T
  hgvsp: ENST00000317551.6:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.206C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1382C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23652G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.579C>T
  hgvsp: ENST00000422340.2:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 684
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.5e0
  variant carriers: 419
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 7.5e0
  variant carriers: 1094
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 1268
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 1210
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 134
genotype quality: GenotypeQuality
hgvs: p.Asp251Asp
num of homozygotes: 6348
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-50529749-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529749
    reference: chr 12
allele count: 1
allele frequency: 9.038322487346349e-6
allele num: 110640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.170A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*94A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.566A>G
  hgvsp: ENSP00000389050.2:p.His189Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.48A>G
  hgvsp: ENSP00000449311.1:p.His17Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.145A>G
  hgvsp: ENSP00000447029.1:p.His49Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*94A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1369A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*719A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.451A>G
  hgvsp: ENSP00000448295.1:p.His151Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.740A>G
  hgvsp: ENSP00000325485.6:p.His247Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23665T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.547A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.193A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.740A>G
  hgvsp: ENSP00000448794.1:p.His247Arg
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His247Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-50529757-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529757
    reference: chr 12
allele count: 2
allele frequency: 1.808056700658132e-5
allele num: 110616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.185G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*86G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.732G>C
  hgvsp: ENSP00000448794.1:p.Met244Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.162G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.40G>C
  hgvsp: ENSP00000449311.1:p.Met14Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23673C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.539G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.443G>C
  hgvsp: ENSP00000448295.1:p.Met148Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*86G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.558G>C
  hgvsp: ENSP00000389050.2:p.Met186Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.137G>C
  hgvsp: ENSP00000447029.1:p.Met46Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1361G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*86G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.732G>C
  hgvsp: ENSP00000325485.6:p.Met244Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*711G>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met244Ile
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: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-50529758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529758
    reference: chr 12
allele count: 1
allele frequency: 9.040120052794301e-6
allele num: 110618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.442T>C
  hgvsp: ENSP00000448295.1:p.Met148Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.136T>C
  hgvsp: ENSP00000447029.1:p.Met46Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.39T>C
  hgvsp: ENSP00000449311.1:p.Met14Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*85T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.538T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23674A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.557T>C
  hgvsp: ENSP00000389050.2:p.Met186Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.731T>C
  hgvsp: ENSP00000325485.6:p.Met244Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.184T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*85T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.731T>C
  hgvsp: ENSP00000448794.1:p.Met244Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1360T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*710T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.161T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met244Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-50529776-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529776
    reference: chr 12
allele count: 3
allele frequency: 2.712918919896547e-5
allele num: 110582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23692C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*692G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.21G>T
  hgvsp: ENSP00000449311.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.118G>T
  hgvsp: ENSP00000447029.1:p.Arg40Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.520G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1342G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.424G>T
  hgvsp: ENSP00000448295.1:p.Arg142Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.539G>T
  hgvsp: ENSP00000389050.2:p.Arg180Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*67G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.166G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.713G>T
  hgvsp: ENSP00000325485.6:p.Arg238Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.713G>T
  hgvsp: ENSP00000448794.1:p.Arg238Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*67G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*67G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.143G>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg238Leu
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-50529776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529776
    reference: chr 12
allele count: 2
allele frequency: 1.808612613264365e-5
allele num: 110582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23692C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.424G>A
  hgvsp: ENSP00000448295.1:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.118G>A
  hgvsp: ENSP00000447029.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.21G>A
  hgvsp: ENSP00000449311.1:p.Arg8Gln
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*692G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*67G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.539G>A
  hgvsp: ENSP00000389050.2:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.713G>A
  hgvsp: ENSP00000448794.1:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.713G>A
  hgvsp: ENSP00000325485.6:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.166G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.520G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*67G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.143G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1342G>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg238Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-50529781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529781
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529781
    reference: chr 12
allele count: 1
allele frequency: 9.043717329571148e-6
allele num: 110574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*62G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.113G>A
  hgvsp: ENSP00000447029.1:p.Met38Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.419G>A
  hgvsp: ENSP00000448295.1:p.Met140Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.708G>A
  hgvsp: ENSP00000325485.6:p.Met236Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*62G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.16G>A
  hgvsp: ENSP00000449311.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*687G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1337G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.534G>A
  hgvsp: ENSP00000389050.2:p.Met178Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.138G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.515G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23697C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.708G>A
  hgvsp: ENSP00000448794.1:p.Met236Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.161G>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met236Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-50529790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529790
    reference: chr 12
allele count: 1
allele frequency: 9.045353401957415e-6
allele num: 110554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*53C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*678C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.699C>G
  hgvsp: ENSP00000448794.1:p.Ile233Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.129C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.410C>G
  hgvsp: ENSP00000448295.1:p.Ile137Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.104C>G
  hgvsp: ENSP00000447029.1:p.Ile35Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.525C>G
  hgvsp: ENSP00000389050.2:p.Ile175Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.699C>G
  hgvsp: ENSP00000325485.6:p.Ile233Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*53C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1328C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.7C>G
  hgvsp: ENSP00000449311.1:p.Ile3Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.506C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.152C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*53C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23706G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile233Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

12-50529793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529793
    reference: chr 12
allele count: 1
allele frequency: 9.045517041754106e-6
allele num: 110552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1325C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.696C>T
  hgvsp: ENST00000317551.6:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.126C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.149C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000449311
  ensembl transcript: ENST00000550919
  gene symbol: CERS5
  hgvsc: ENST00000550919.1:c.4C>T
  hgvsp: ENST00000550919.1:c.4C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.101C>T
  hgvsp: ENST00000550547.1:c.101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.407C>T
  hgvsp: ENST00000547800.1:c.407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.503C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23709G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*675C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*50C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.522C>T
  hgvsp: ENST00000422340.2:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.696C>T
  hgvsp: ENST00000551697.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr232Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-50529804-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529804
    reference: chr 12
allele count: 1
allele frequency: 9.046171660153422e-6
allele num: 110544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.396T>G
  hgvsp: ENSP00000448295.1:p.Ser133Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.90T>G
  hgvsp: ENSP00000447029.1:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23720A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.511T>G
  hgvsp: ENSP00000389050.2:p.Ser171Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.115T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.685T>G
  hgvsp: ENSP00000325485.6:p.Ser229Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*664T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1314T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.492T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.685T>G
  hgvsp: ENSP00000448794.1:p.Ser229Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*39T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.138T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*39T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*39T>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser229Ala
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-50529805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529805
    reference: chr 12
allele count: 13
allele frequency: 1.176002315819945e-4
allele num: 110544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.114C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*38C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*663C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.684C>G
  hgvsp: ENSP00000448794.1:p.Ile228Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.684C>G
  hgvsp: ENSP00000325485.6:p.Ile228Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1313C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*38C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23721G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.510C>G
  hgvsp: ENSP00000389050.2:p.Ile170Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*38C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.395C>G
  hgvsp: ENSP00000448295.1:p.Ile132Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.89C>G
  hgvsp: ENSP00000447029.1:p.Ile30Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.137C>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.491C>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile228Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-50529806-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529806
    reference: chr 12
allele count: 1
allele frequency: 9.04649900488511e-6
allele num: 110540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.88T>A
  hgvsp: ENSP00000447029.1:p.Ile30Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23722A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*37T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*37T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.509T>A
  hgvsp: ENSP00000389050.2:p.Ile170Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.683T>A
  hgvsp: ENSP00000325485.6:p.Ile228Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.490T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1312T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*662T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.683T>A
  hgvsp: ENSP00000448794.1:p.Ile228Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.136T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.394T>A
  hgvsp: ENSP00000448295.1:p.Ile132Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.113T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*37T>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile228Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-50529813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529813
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529813
    reference: chr 12
allele count: 1
allele frequency: 9.047317470370035e-6
allele num: 110530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.502G>A
  hgvsp: ENSP00000389050.2:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.106G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.81G>A
  hgvsp: ENSP00000447029.1:p.Gly28Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*30G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.483G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*30G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.387G>A
  hgvsp: ENSP00000448295.1:p.Gly130Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.676G>A
  hgvsp: ENSP00000325485.6:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.676G>A
  hgvsp: ENSP00000448794.1:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1305G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23729C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.129G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*655G>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly226Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-50529815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529815
    reference: chr 12
allele count: 4
allele frequency: 3.618796026561963e-5
allele num: 110534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1303T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23731A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.79T>C
  hgvsp: ENSP00000447029.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*28T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.500T>C
  hgvsp: ENSP00000389050.2:p.Ile167Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.127T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.385T>C
  hgvsp: ENSP00000448295.1:p.Ile129Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*653T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.104T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*28T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.674T>C
  hgvsp: ENSP00000448794.1:p.Ile225Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.674T>C
  hgvsp: ENSP00000325485.6:p.Ile225Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.481T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile225Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-50529815-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529815
    reference: chr 12
allele count: 1
allele frequency: 9.046990066404907e-6
allele num: 110534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23731A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.385T>A
  hgvsp: ENSP00000448295.1:p.Ile129Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.104T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.79T>A
  hgvsp: ENSP00000447029.1:p.Ile27Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*653T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.674T>A
  hgvsp: ENSP00000325485.6:p.Ile225Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.500T>A
  hgvsp: ENSP00000389050.2:p.Ile167Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.127T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.674T>A
  hgvsp: ENSP00000448794.1:p.Ile225Asn
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1303T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.481T>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile225Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-50529819-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529819
    reference: chr 12
allele count: 1
allele frequency: 9.047153765425397e-6
allele num: 110532
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23735T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*649A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.381A>G
  hgvsp: ENSP00000448295.1:p.Thr128Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.477A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.670A>G
  hgvsp: ENSP00000448794.1:p.Thr224Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.123A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.670A>G
  hgvsp: ENSP00000325485.6:p.Thr224Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.496A>G
  hgvsp: ENSP00000389050.2:p.Thr166Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*24A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.100A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.75A>G
  hgvsp: ENSP00000447029.1:p.Thr26Ala
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1299A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr224Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-50529830-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529830
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529830
    reference: chr 12
allele count: 1
allele frequency: 9.049446173894157e-6
allele num: 110504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.89A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.64A>C
  hgvsp: ENSP00000447029.1:p.His22Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1288A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.659A>C
  hgvsp: ENSP00000325485.6:p.His220Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.*13A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.659A>C
  hgvsp: ENSP00000448794.1:p.His220Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.370A>C
  hgvsp: ENSP00000448295.1:p.His124Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.466A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.*13A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.112A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.485A>C
  hgvsp: ENSP00000389050.2:p.His162Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*638A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.*13A>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23746T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His220Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-50529863-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529863
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529863
    reference: chr 12
allele count: 1
allele frequency: 9.056002318336594e-6
allele num: 110424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23779A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-11T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-11T>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-50529864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529864
    reference: chr 12
allele count: 1
allele frequency: 9.056494412142948e-6
allele num: 110418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23780T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-12A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-12A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-50529877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529877
    reference: chr 12
allele count: 2
allele frequency: 1.812152293278727e-5
allele num: 110366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23793G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-25C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-25C>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-50529880-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529880
    reference: chr 12
allele count: 1
allele frequency: 9.061418293191251e-6
allele num: 110358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23796A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-28T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-28T>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-50529881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529881
    reference: chr 12
allele count: 1
allele frequency: 9.061254077564335e-6
allele num: 110360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23797G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-29C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-29C>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-50529886-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529886
    reference: chr 12
allele count: 1
allele frequency: 9.065689989665113e-6
allele num: 110306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23802A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-34T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-34T>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-50529901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50529901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50529901
    reference: chr 12
allele count: 1
allele frequency: 9.075398409990198e-6
allele num: 110188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.637-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.90-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.67-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.463-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.637-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.444-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1266-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.348-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.579-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.579-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.531-49T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+23817A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*616-49T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-50531476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531476
    reference: chr 12
allele count: 3
allele frequency: 2.523977788995457e-5
allele num: 118860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25392A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+874T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1624T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+35T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+35T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23134
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-50531476-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531476
    reference: chr 12
allele count: 2
allele frequency: 1.682651859330305e-5
allele num: 118860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+874T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25392A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1624T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+35T>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+35T>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-50531482-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531482
    reference: chr 12
allele count: 1
allele frequency: 8.39560070523046e-6
allele num: 119110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25398T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1630A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+29A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+868A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+29A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-50531487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531487
    reference: chr 12
allele count: 1
allele frequency: 8.373946976167747e-6
allele num: 119418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1635T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25403A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+863T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+24T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-50531498-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531498
    reference: chr 12
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1646G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+852G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+13G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25414C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+13G>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-50531502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531502
    reference: chr 12
allele count: 3
allele frequency: 2.48616037391852e-5
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1650G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25418C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+848G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+9G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+9G>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

12-50531503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531503
    reference: chr 12
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1651C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+8C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25419G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+847C>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.636+8C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

12-50531504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531504
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531504
    reference: chr 12
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+846A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25420T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+7A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1652A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.636+7A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-50531507-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531507
    reference: chr 12
allele count: 3
allele frequency: 2.480404802063697e-5
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+843A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25423T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+4A>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1655A>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.636+4A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-50531510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531510
    reference: chr 12
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.89+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.578+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+840G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1265+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.443+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.578+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.636+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*615+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.66+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.462+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.636+1G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25426C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1658G>A
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.530+1G>A
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.636+1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-50531511-CTTTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531506
    reference: chr 12
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.573_577delAGAAA
  hgvsp: ENSP00000442918.1:p.Glu192AspfsTer?
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.61_65delAGAAA
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1260_1264delAGAAA
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.525_529delAGAAA
  hgvsp: ENSP00000407896.2:p.Glu176AspfsTer?
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.631_635delAGAAA
  hgvsp: ENSP00000448794.1:p.Arg211GlyfsTer36
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.631_635delAGAAA
  hgvsp: ENSP00000325485.6:p.Arg211GlyfsTer36
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.457_461delAGAAA
  hgvsp: ENSP00000389050.2:p.Arg153GlyfsTer36
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+834_347+838delAGAAA
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.573_577delAGAAA
  hgvsp: ENSP00000369536.4:p.Glu192AspfsTer218
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.84_88delAGAAA
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*610_*614delAGAAA
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.438_442delAGAAA
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1664_42-1660delAGAAA
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg211GlyfsTer36
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: CTTTCT
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-50531512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531512
    reference: chr 12
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.635A>G
  hgvsp: ENSP00000448794.1:p.Lys212Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1264A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.461A>G
  hgvsp: ENSP00000389050.2:p.Lys154Arg
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*614A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.88A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.577A>G
  hgvsp: ENSP00000442918.1:p.Arg193Gly
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.65A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.442A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.529A>G
  hgvsp: ENSP00000407896.2:p.Arg177Gly
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25428T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1660A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+838A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.577A>G
  hgvsp: ENSP00000369536.4:p.Arg193Gly
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.635A>G
  hgvsp: ENSP00000325485.6:p.Lys212Arg
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys212Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/12-50531520-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531520
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.627T>G
  hgvsp: ENSP00000325485.6:p.Ile209Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.434T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1256T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.569T>G
  hgvsp: ENSP00000369536.4:p.Leu190Ter
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.627T>G
  hgvsp: ENSP00000448794.1:p.Ile209Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25436A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*606T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.453T>G
  hgvsp: ENSP00000389050.2:p.Ile151Met
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.569T>G
  hgvsp: ENSP00000442918.1:p.Leu190Ter
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.80T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.521T>G
  hgvsp: ENSP00000407896.2:p.Leu174Ter
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.57T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1668T>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+830T>G
  variant of: http://identifiers.org/hgnc/23749
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu190Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

12-50531523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531523
    reference: chr 12
allele count: 42
allele frequency: 3.463346252164591e-4
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.431C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.54C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.518C>T
  hgvsp: ENSP00000407896.2:p.Thr173Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1671C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*603C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.624C>T
  hgvsp: ENST00000551697.1:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.566C>T
  hgvsp: ENSP00000442918.1:p.Thr189Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.450C>T
  hgvsp: ENST00000422340.2:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.566C>T
  hgvsp: ENSP00000369536.4:p.Thr189Ile
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.77C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25439G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+827C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1253C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.624C>T
  hgvsp: ENST00000317551.6:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26929
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr189Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-50531531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531531
    reference: chr 12
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1245T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.510T>C
  hgvsp: ENST00000438450.2:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.558T>C
  hgvsp: ENST00000380189.4:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25447A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.616T>C
  hgvsp: ENSP00000325485.6:p.Phe206Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.69T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.46T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.558T>C
  hgvsp: ENST00000542320.1:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+819T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*595T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.616T>C
  hgvsp: ENSP00000448794.1:p.Phe206Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.442T>C
  hgvsp: ENSP00000389050.2:p.Phe148Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.423T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1679T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe206Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-50531532-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531532
    reference: chr 12
allele count: 8
allele frequency: 6.594348643212767e-5
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1244G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.557G>C
  hgvsp: ENSP00000442918.1:p.Ser186Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.615G>C
  hgvsp: ENSP00000325485.6:p.Gln205His
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.615G>C
  hgvsp: ENSP00000448794.1:p.Gln205His
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*594G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.68G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.441G>C
  hgvsp: ENSP00000389050.2:p.Gln147His
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.509G>C
  hgvsp: ENSP00000407896.2:p.Ser170Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.422G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+818G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25448C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.45G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1680G>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.557G>C
  hgvsp: ENSP00000369536.4:p.Ser186Thr
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln205His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-50531551-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531551
    reference: chr 12
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.403G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.538G>T
  hgvsp: ENSP00000369536.4:p.Gly180Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.490G>T
  hgvsp: ENSP00000407896.2:p.Gly164Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.422G>T
  hgvsp: ENSP00000389050.2:p.Trp141Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.49G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1699G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.596G>T
  hgvsp: ENSP00000325485.6:p.Trp199Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+799G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.538G>T
  hgvsp: ENSP00000442918.1:p.Gly180Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.596G>T
  hgvsp: ENSP00000448794.1:p.Trp199Leu
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*575G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.26G>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25467C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1225G>T
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp199Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-50531554-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531554
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.593A>G
  hgvsp: ENSP00000448794.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25470T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.419A>G
  hgvsp: ENSP00000389050.2:p.Tyr140Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1702A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.46A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+796A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.23A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.400A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.535A>G
  hgvsp: ENSP00000369536.4:p.Ile179Val
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.593A>G
  hgvsp: ENSP00000325485.6:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.535A>G
  hgvsp: ENSP00000442918.1:p.Ile179Val
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*572A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1222A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.487A>G
  hgvsp: ENSP00000407896.2:p.Ile163Val
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr198Cys
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: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-50531556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531556
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*570C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.44C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.21C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.533C>T
  hgvsp: ENSP00000369536.4:p.Ser178Phe
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.417C>T
  hgvsp: ENST00000422340.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25472G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.591C>T
  hgvsp: ENST00000551697.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.485C>T
  hgvsp: ENSP00000407896.2:p.Ser162Phe
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.591C>T
  hgvsp: ENST00000317551.6:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.398C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1704C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.533C>T
  hgvsp: ENSP00000442918.1:p.Ser178Phe
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1220C>T
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+794C>T
  variant of: http://identifiers.org/hgnc/23749
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser178Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

12-50531564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531564
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.13T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.525T>C
  hgvsp: ENST00000542320.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.409T>C
  hgvsp: ENST00000422340.2:c.409T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.525T>C
  hgvsp: ENST00000380189.4:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.583T>C
  hgvsp: ENST00000317551.6:c.583T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25480A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1212T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*562T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.583T>C
  hgvsp: ENST00000551697.1:c.583T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.477T>C
  hgvsp: ENST00000438450.2:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.390T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+786T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1712T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.36T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu195Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-50531572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531572
    reference: chr 12
allele count: 3
allele frequency: 2.47320692497939e-5
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.575T>C
  hgvsp: ENSP00000448794.1:p.Ile192Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.469T>C
  hgvsp: ENSP00000407896.2:p.Ser157Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.517T>C
  hgvsp: ENSP00000369536.4:p.Ser173Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+778T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.5T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25488A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*554T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.575T>C
  hgvsp: ENSP00000325485.6:p.Ile192Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.517T>C
  hgvsp: ENSP00000442918.1:p.Ser173Pro
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1204T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.382T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.401T>C
  hgvsp: ENSP00000389050.2:p.Ile134Thr
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.28T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1720T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile192Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-50531575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531575
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531575
    reference: chr 12
allele count: 3
allele frequency: 2.473737157181259e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1201A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.514A>G
  hgvsp: ENSP00000442918.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1723A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*551A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.2A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.572A>G
  hgvsp: ENSP00000325485.6:p.Tyr191Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25491T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.514A>G
  hgvsp: ENSP00000369536.4:p.Ile172Val
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.572A>G
  hgvsp: ENSP00000448794.1:p.Tyr191Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.398A>G
  hgvsp: ENSP00000389050.2:p.Tyr133Cys
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.25A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.466A>G
  hgvsp: ENSP00000407896.2:p.Ile156Val
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.379A>G
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+775A>G
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr191Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-50531576-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531576
    reference: chr 12
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000546676
  gene symbol: CERS5
  hgvsc: ENST00000546676.1:n.1T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000547138
  gene symbol: CERS5
  hgvsc: ENST00000547138.1:n.24T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.571T>C
  hgvsp: ENSP00000325485.6:p.Tyr191His
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1724T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.465T>C
  hgvsp: ENST00000438450.2:c.465T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1200T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25492A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+774T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.397T>C
  hgvsp: ENSP00000389050.2:p.Tyr133His
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*550T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.513T>C
  hgvsp: ENST00000542320.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.571T>C
  hgvsp: ENSP00000448794.1:p.Tyr191His
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.513T>C
  hgvsp: ENST00000380189.4:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.378T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr191His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

12-50531609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50531609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 50531609
    reference: chr 12
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000407896
  ensembl transcript: ENST00000438450
  gene symbol: CERS5
  hgvsc: ENST00000438450.2:c.438-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000369536
  ensembl transcript: ENST00000380189
  gene symbol: CERS5
  hgvsc: ENST00000380189.4:c.486-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000549089
  gene symbol: CERS5
  hgvsc: ENST00000549089.1:n.351-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000442918
  ensembl transcript: ENST00000542320
  gene symbol: CERS5
  hgvsc: ENST00000542320.1:c.486-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272368
  ensembl transcript: ENST00000548468
  gene symbol: RP4-605O3.4
  hgvsc: ENST00000548468.1:n.105+25525A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000389050
  ensembl transcript: ENST00000422340
  gene symbol: CERS5
  hgvsc: ENST00000422340.2:c.370-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000325485
  ensembl transcript: ENST00000317551
  gene symbol: CERS5
  hgvsc: ENST00000317551.6:c.544-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448794
  ensembl transcript: ENST00000551697
  gene symbol: CERS5
  hgvsc: ENST00000551697.1:c.544-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447410
  ensembl transcript: ENST00000547787
  gene symbol: CERS5
  hgvsc: ENST00000547787.1:c.*523-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000447029
  ensembl transcript: ENST00000550547
  gene symbol: CERS5
  hgvsc: ENST00000550547.1:c.42-1757T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl transcript: ENST00000551005
  gene symbol: CERS5
  hgvsc: ENST00000551005.1:n.1173-6T>C
  variant of: http://identifiers.org/hgnc/23749
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139624
  ensembl protein: ENSP00000448295
  ensembl transcript: ENST00000547800
  gene symbol: CERS5
  hgvsc: ENST00000547800.1:c.347+741T>C
  variant of: http://identifiers.org/hgnc/23749
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.544-6T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A

GenotypeDepth
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4211
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6511
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 66686
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.441942e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.053e0

FS
type: SiteQuality
SIO_000300: 3.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6511
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2454
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.25e1
variant carriers: 0

Latino
type: Population
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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
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: 16470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.441863e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeDepth
all individuals: 43996
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10647
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Other
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Latino
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.506341698550899e-5
allele num: 66386
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.53031555106663e-5
allele num: 65346
num of homozygotes: 0

FS
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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African
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allele num: 10310
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European (Non-Finnish)
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.2e-3

MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

Latino
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allele num: 11522
num of homozygotes: 0

Other
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allele count: 1
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allele num: 852
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.071450437764036e-4
allele num: 65332
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South Asian
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allele num: 12780
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European (Finnish)
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num of homozygotes: 0

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

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

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

GenotypeQuality
all individuals: 2021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556371786092262e-5
allele num: 64252
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: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.301e1

FS
type: SiteQuality
SIO_000300: 1.407e0

DP
type: SiteQuality
SIO_000300: 1.342908e6

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeDepth
all individuals: 3868
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2023
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variant carriers: 4

GenotypeDepth
all individuals: 59
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 75
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 14
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variant carriers: 1

GenotypeQuality
all individuals: 2856
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2019
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GenotypeQuality
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GenotypeQuality
all individuals: 845
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 7.51556796220743e-4
allele num: 9314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
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: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.341052e6

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 4.275e0

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeDepth
all individuals: 19219
bin: 2.25e1
variant carriers: 125

GenotypeDepth
all individuals: 356
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variant carriers: 325

GenotypeDepth
all individuals: 328
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variant carriers: 189

GenotypeDepth
all individuals: 845
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variant carriers: 835

GenotypeDepth
all individuals: 1399
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variant carriers: 1397

GenotypeDepth
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variant carriers: 20146

GenotypeDepth
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variant carriers: 1547

GenotypeDepth
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variant carriers: 1007

GenotypeQuality
all individuals: 504
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variant carriers: 192

GenotypeQuality
all individuals: 896
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GenotypeQuality
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bin: 1.25e1
variant carriers: 157

GenotypeQuality
all individuals: 894
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variant carriers: 25

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2753
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variant carriers: 19

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 241

GenotypeQuality
all individuals: 1119
bin: 7.75e1
variant carriers: 58

GenotypeQuality
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bin: 3.25e1
variant carriers: 37

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 114

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 103

GenotypeQuality
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variant carriers: 66

GenotypeQuality
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variant carriers: 61

GenotypeQuality
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variant carriers: 178

GenotypeQuality
all individuals: 812
bin: 8.25e1
variant carriers: 125

GenotypeQuality
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variant carriers: 126

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 51
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variant carriers: 35

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 58

GenotypeQuality
all individuals: 30267
bin: 9.75e1
variant carriers: 29998

European (Non-Finnish)
type: Population
allele count: 22763
allele frequency: 3.553387449266313e-1
allele num: 64060
num of homozygotes: 4131

Latino
type: Population
allele count: 3163
allele frequency: 2.755226480836237e-1
allele num: 11480
num of homozygotes: 437

European (Finnish)
type: Population
allele count: 1872
allele frequency: 2.830359842757786e-1
allele num: 6614
num of homozygotes: 267

East Asian
type: Population
allele count: 1380
allele frequency: 1.618198874296435e-1
allele num: 8528
num of homozygotes: 130

African
type: Population
allele count: 3300
allele frequency: 3.230227094753328e-1
allele num: 10216
num of homozygotes: 568

South Asian
type: Population
allele count: 3715
allele frequency: 4.032783326096396e-1
allele num: 9212
num of homozygotes: 781

Other
type: Population
allele count: 251
allele frequency: 3.161209068010076e-1
allele num: 794
num of homozygotes: 34

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.784e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.132407e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.947e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 841
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variant carriers: 1

GenotypeDepth
all individuals: 3848
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variant carriers: 0

GenotypeDepth
all individuals: 283
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variant carriers: 0

GenotypeDepth
all individuals: 1711
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variant carriers: 0

GenotypeDepth
all individuals: 1189
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variant carriers: 0

GenotypeDepth
all individuals: 3544
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variant carriers: 0

GenotypeDepth
all individuals: 4173
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variant carriers: 0

GenotypeDepth
all individuals: 850
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GenotypeQuality
all individuals: 1335
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GenotypeQuality
all individuals: 4768
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 313
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 2601
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 2146
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 2849
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variant carriers: 0

GenotypeQuality
all individuals: 3665
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GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 17306
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variant carriers: 1

GenotypeQuality
all individuals: 1935
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
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: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562402349853134e-5
allele num: 64004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.904e0

DP
type: SiteQuality
SIO_000300: 2.056079e6

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e0

GenotypeDepth
all individuals: 4428
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
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variant carriers: 0

GenotypeDepth
all individuals: 6538
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1189
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variant carriers: 1

GenotypeDepth
all individuals: 396
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variant carriers: 0

GenotypeDepth
all individuals: 4172
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GenotypeDepth
all individuals: 840
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variant carriers: 0

GenotypeDepth
all individuals: 2871
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GenotypeDepth
all individuals: 210
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GenotypeDepth
all individuals: 379
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GenotypeQuality
all individuals: 22146
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1931
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17305
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.220248667850799e-4
allele num: 9008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
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: 63994
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

FS
type: SiteQuality
SIO_000300: 3.471e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 2.054463e6

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeDepth
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19707
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
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GenotypeDepth
all individuals: 2871
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GenotypeDepth
all individuals: 850
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GenotypeDepth
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GenotypeDepth
all individuals: 87
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GenotypeDepth
all individuals: 3545
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GenotypeDepth
all individuals: 841
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variant carriers: 1

GenotypeDepth
all individuals: 283
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GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
all individuals: 231
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562597662353897e-5
allele num: 63996
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: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.844e0

VQSLOD
type: SiteQuality
SIO_000300: -2.187e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 2.054336e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.182e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1188
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 102
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 841
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variant carriers: 2

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 1931
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10204
num of homozygotes: 1

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

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

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.111111111111111e-4
allele num: 9000
num of homozygotes: 0

African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 63982
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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FS
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BaseQRankSum
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MQRankSum
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DP
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.111358079573238e-4
allele num: 8998
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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: 0
allele frequency: 0.0e0
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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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DP
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SIO_000300: 2.049509e6

MQ
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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Latino
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DP
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QD
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MQRankSum
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FS
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 63896
num of homozygotes: 0

European (Finnish)
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Latino
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Other
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East Asian
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African
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South Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 8990
num of homozygotes: 0

Latino
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East Asian
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allele num: 8508
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Other
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Latino
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South Asian
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European (Finnish)
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VQSLOD
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ClippingRankSum
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MQ
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QD
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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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East Asian
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Other
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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DP
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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Other
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African
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East Asian
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South Asian
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European (Non-Finnish)
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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allele num: 10248
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Latino
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South Asian
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DP
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 1.24e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
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MQRankSum
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ClippingRankSum
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SIO_000300: -1.618e0

DP
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VQSLOD
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FS
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SIO_000300: 2.892e0

QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
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Other
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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SIO_000300: 4.869e0

BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.394e0

QD
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DP
type: SiteQuality
SIO_000300: 1.75647e6

InbreedingCoeff
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SIO_000300: 1.3e-3

ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.784e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.510193036261952e-5
allele num: 66516
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

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10390
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Latino
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Other
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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Latino
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South Asian
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VQSLOD
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FS
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QD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

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

Other
type: Population
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: 6604
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 2.11e0

VQSLOD
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SIO_000300: -8.94e-1

ReadPosRankSum
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SIO_000300: 9.28e-1

ClippingRankSum
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SIO_000300: -1.26e-1

BaseQRankSum
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SIO_000300: -4.64e-1

FS
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DP
type: SiteQuality
SIO_000300: 1.761071e6

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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SIO_000300: 9.880000000000001e0

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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: 6608
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.38e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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DP
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SIO_000300: 1.762711e6

FS
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
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SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
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SIO_000300: -1.343e0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 42

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.449413599688053e-4
allele num: 66678
num of homozygotes: 0

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

Latino
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allele count: 16
allele frequency: 1.384322547153487e-3
allele num: 11558
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.53857791225416e-4
allele num: 6610
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: 1.174e1

InbreedingCoeff
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SIO_000300: -4.0e-4

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.301e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.765034e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 777
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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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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: 1.171e1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.157e0

BaseQRankSum
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SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 1.764384e6

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
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SIO_000300: -1.429e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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

East Asian
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allele count: 7
allele frequency: 8.105604446503011e-4
allele num: 8636
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

QD
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DP
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FS
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 8.44e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
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SIO_000300: 3.17e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
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SIO_000300: 1.764907e6

InbreedingCoeff
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FS
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SIO_000300: 2.434e0

MQRankSum
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SIO_000300: 1.1e-1

ClippingRankSum
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SIO_000300: -2.3e-1

QD
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SIO_000300: 1.334e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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: 10382
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

VQSLOD
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SIO_000300: -2.414e0

FS
type: SiteQuality
SIO_000300: 4.965e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

ReadPosRankSum
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SIO_000300: -2.12e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.764731e6

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 10376
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.764442e6

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.3869e1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
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allele num: 66688
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

Latino
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num of homozygotes: 0

South Asian
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allele num: 16500
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East Asian
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allele num: 8638
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African
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allele frequency: 0.0e0
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Other
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: -6.98e-1

QD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
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Other
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European (Finnish)
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African
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South Asian
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Latino
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DP
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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