18-23615042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615042
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615042
    reference: chr 18
allele count: 7
allele frequency: 5.769008884273682e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*919A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.1023A>G
  hgvsp: ENST00000415083.2:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*794A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.774A>G
  hgvsp: ENST00000545952.1:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.954A>G
  hgvsp: ENST00000542420.2:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.777A>G
  hgvsp: ENST00000539849.1:c.777A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.774A>G
  hgvsp: ENST00000542743.1:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.930A>G
  hgvsp: ENST00000269137.7:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*752A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.537A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro341Pro
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

18-23615043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615043
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615043
    reference: chr 18
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: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*793C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.773C>T
  hgvsp: ENSP00000443097.1:p.Pro258Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.1022C>T
  hgvsp: ENSP00000414516.2:p.Pro341Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.953C>T
  hgvsp: ENSP00000438066.2:p.Pro318Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*918C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.929C>T
  hgvsp: ENSP00000269137.7:p.Pro310Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*751C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.536C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.773C>T
  hgvsp: ENSP00000444551.1:p.Pro258Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.776C>T
  hgvsp: ENSP00000444647.1:p.Pro259Leu
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro341Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

18-23615044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615044
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615044
    reference: chr 18
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*792C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*917C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*750C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.928C>T
  hgvsp: ENSP00000269137.7:p.Pro310Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.772C>T
  hgvsp: ENSP00000443097.1:p.Pro258Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.1021C>T
  hgvsp: ENSP00000414516.2:p.Pro341Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.952C>T
  hgvsp: ENSP00000438066.2:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.535C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.775C>T
  hgvsp: ENSP00000444647.1:p.Pro259Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.772C>T
  hgvsp: ENSP00000444551.1:p.Pro258Ser
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro341Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-23615046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615046
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615046
    reference: chr 18
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.533C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.926C>T
  hgvsp: ENSP00000269137.7:p.Pro309Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*915C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.950C>T
  hgvsp: ENSP00000438066.2:p.Pro317Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.770C>T
  hgvsp: ENSP00000444551.1:p.Pro257Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.1019C>T
  hgvsp: ENSP00000414516.2:p.Pro340Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*790C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.773C>T
  hgvsp: ENSP00000444647.1:p.Pro258Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.770C>T
  hgvsp: ENSP00000443097.1:p.Pro257Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*748C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6451
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro340Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

18-23615048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615048
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615048
    reference: chr 18
allele count: 4
allele frequency: 3.296685183048445e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.771A>G
  hgvsp: ENST00000539849.1:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.768A>G
  hgvsp: ENST00000542743.1:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.924A>G
  hgvsp: ENST00000269137.7:c.924A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*746A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.531A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.948A>G
  hgvsp: ENST00000542420.2:c.948A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.1017A>G
  hgvsp: ENST00000415083.2:c.1017A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*913A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.768A>G
  hgvsp: ENST00000545952.1:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*788A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro339Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

18-23615057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615057
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615057
    reference: chr 18
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.915C>T
  hgvsp: ENST00000269137.7:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*779C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*904C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*737C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.522C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.759C>T
  hgvsp: ENST00000542743.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*805C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.939C>T
  hgvsp: ENST00000542420.2:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.759C>T
  hgvsp: ENST00000545952.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.762C>T
  hgvsp: ENST00000539849.1:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.1008C>T
  hgvsp: ENST00000415083.2:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr336Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

18-23615070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615070
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615070
    reference: chr 18
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.746A>G
  hgvsp: ENSP00000444551.1:p.Gln249Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.926A>G
  hgvsp: ENSP00000438066.2:p.Gln309Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.902A>G
  hgvsp: ENSP00000269137.7:p.Gln301Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.509A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.749A>G
  hgvsp: ENSP00000444647.1:p.Gln250Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*891A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*766A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*724A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.746A>G
  hgvsp: ENSP00000443097.1:p.Gln249Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*792A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.995A>G
  hgvsp: ENSP00000414516.2:p.Gln332Arg
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln332Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

18-23615075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615075
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615075
    reference: chr 18
allele count: 5
allele frequency: 4.122283415229364e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.921C>T
  hgvsp: ENST00000542420.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*886C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*787C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.504C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.744C>T
  hgvsp: ENST00000539849.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.990C>T
  hgvsp: ENST00000415083.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.741C>T
  hgvsp: ENST00000542743.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*719C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.897C>T
  hgvsp: ENST00000269137.7:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.741C>T
  hgvsp: ENST00000545952.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*761C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly330Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

18-23615079-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615079
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615079
    reference: chr 18
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.893A>G
  hgvsp: ENSP00000269137.7:p.Tyr298Cys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.500A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*715A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.740A>G
  hgvsp: ENSP00000444647.1:p.Tyr247Cys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*882A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.917A>G
  hgvsp: ENSP00000438066.2:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.737A>G
  hgvsp: ENSP00000443097.1:p.Tyr246Cys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*757A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.737A>G
  hgvsp: ENSP00000444551.1:p.Tyr246Cys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*783A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.986A>G
  hgvsp: ENSP00000414516.2:p.Tyr329Cys
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr329Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/18-23615081-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615081
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615081
    reference: chr 18
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.915G>T
  hgvsp: ENSP00000438066.2:p.Gln305His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.498G>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.735G>T
  hgvsp: ENSP00000443097.1:p.Gln245His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.735G>T
  hgvsp: ENSP00000444551.1:p.Gln245His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.984G>T
  hgvsp: ENSP00000414516.2:p.Gln328His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.891G>T
  hgvsp: ENSP00000269137.7:p.Gln297His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*755G>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.738G>T
  hgvsp: ENSP00000444647.1:p.Gln246His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*713G>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*880G>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*781G>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln328His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

18-23615097-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615097
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615097
    reference: chr 18
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.482C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-6C>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-6C>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.974-6C>A
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

18-23615099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615099
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615099
    reference: chr 18
allele count: 4
allele frequency: 3.301038176506511e-5
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.480T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-8T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-8T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.974-8T>C
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-23615099-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615099
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615099
    reference: chr 18
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.480T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-8T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-8T>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.974-8T>A
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

18-23615100-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615100
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615100
    reference: chr 18
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.479A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-9A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-9A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

18-23615101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615101
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615101
    reference: chr 18
allele count: 5
allele frequency: 4.126433935792688e-5
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.478T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-10T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-10T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

18-23615103-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615103
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615103
    reference: chr 18
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.476A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-12A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-12A>T
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

18-23615114-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615114
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615115
    reference: chr 18
allele count: 4
allele frequency: 3.310326563715511e-5
allele num: 120834
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-24dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.464dupT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-24dupT
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

18-23615114-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615114
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615113
    reference: chr 18
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.464delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-24delT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-24delT
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: GA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

18-23615115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615115
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615115
    reference: chr 18
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.464T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-24T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-24T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

18-23615120-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615120
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615120
    reference: chr 18
allele count: 19
allele frequency: 1.570923041307008e-4
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.459T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-29T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-29T>A
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

18-23615121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615121
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615121
    reference: chr 18
allele count: 28
allele frequency: 2.314967921158807e-4
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.458T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-30T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

18-23615125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615125
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615125
    reference: chr 18
allele count: 4
allele frequency: 3.309395373465268e-5
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.905-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.728-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*703-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141380
  ensembl transcript: ENST00000580958
  gene symbol: SS18
  hgvsc: ENST00000580958.1:n.454C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.974-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*771-34C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-34C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

18-23615744-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615744
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615744
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 34066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.904+51A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.727+51A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-653A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-653A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-653A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-653A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*770+51A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*702+51A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-653A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.973+51A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20380
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

18-23615757-G-GGATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615757
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615761
    reference: chr 18
allele count: 1
allele frequency: 2.825976374837506e-5
allele num: 35386
alternate allele: GGATA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.973+34_973+37dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.904+34_904+37dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-670_725-667dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-670_725-667dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*702+34_*702+37dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-670_881-667dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.727+34_727+37dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-670_*870-667dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*770+34_*770+37dupTATC
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-670_*745-667dupTATC
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

18-23615765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615765
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615765
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 36628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-674T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*770+30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.727+30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-674T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-674T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.904+30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-674T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-674T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*702+30T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.973+30T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25448
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

18-23615786-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615786
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615783
    reference: chr 18
allele count: 3
allele frequency: 6.32617772341951e-5
allele num: 47422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.727+6_727+8delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.904+6_904+8delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-698_*870-696delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-698_881-696delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.973+6_973+8delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-698_725-696delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*770+6_*770+8delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*702+6_*702+8delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-698_725-696delTAT
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-698_*745-696delTAT
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 0
hgvs: c.973+6_973+8delTAT
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: TATA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/18-23615789-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615789
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615789
    reference: chr 18
allele count: 2
allele frequency: 4.039587962027873e-5
allele num: 49510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-698T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.973+6T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.727+6T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-698T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*702+6T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*770+6T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.904+6T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-698T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-698T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-698T>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
hgvs: c.973+6T>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-23615801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615801
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615801
    reference: chr 18
allele count: 1
allele frequency: 1.731721677691961e-5
allele num: 57746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-710G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-710G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.967G>A
  hgvsp: ENSP00000414516.2:p.Glu323Lys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-710G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-710G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.721G>A
  hgvsp: ENSP00000444647.1:p.Glu241Lys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.898G>A
  hgvsp: ENSP00000438066.2:p.Glu300Lys
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-710G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*764G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*696G>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25815
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu323Lys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

18-23615828-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615828
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615828
    reference: chr 18
allele count: 1
allele frequency: 1.428122590043129e-5
allele num: 70022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-737T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.871T>C
  hgvsp: ENSP00000438066.2:p.Tyr291His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*669T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.694T>C
  hgvsp: ENSP00000444647.1:p.Tyr232His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-737T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-737T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-737T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-737T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.940T>C
  hgvsp: ENSP00000414516.2:p.Tyr314His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*737T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr314His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

18-23615838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615838
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615838
    reference: chr 18
allele count: 1
allele frequency: 1.400011200089601e-5
allele num: 71428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.684C>T
  hgvsp: ENST00000539849.1:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-747C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.861C>T
  hgvsp: ENST00000542420.2:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*727C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-747C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-747C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-747C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.930C>T
  hgvsp: ENST00000415083.2:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*659C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-747C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr310Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

18-23615847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615847
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615847
    reference: chr 18
allele count: 1
allele frequency: 1.404612748265303e-5
allele num: 71194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*650A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-756A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-756A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-756A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.675A>T
  hgvsp: ENSP00000444647.1:p.Glu225Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.852A>T
  hgvsp: ENSP00000438066.2:p.Glu284Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-756A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*718A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.921A>T
  hgvsp: ENSP00000414516.2:p.Glu307Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-756A>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18478
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu307Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

18-23615857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615857
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615857
    reference: chr 18
allele count: 1
allele frequency: 1.439180242933625e-5
allele num: 69484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-766C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-766C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-766C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.665C>T
  hgvsp: ENSP00000444647.1:p.Ser222Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.842C>T
  hgvsp: ENSP00000438066.2:p.Ser281Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*640C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.911C>T
  hgvsp: ENSP00000414516.2:p.Ser304Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*708C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-766C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-766C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser304Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

18-23615859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615859
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615859
    reference: chr 18
allele count: 2
allele frequency: 2.873893550982872e-5
allele num: 69592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-768G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-768G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.663G>A
  hgvsp: ENST00000539849.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.840G>A
  hgvsp: ENST00000542420.2:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-768G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*706G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*638G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-768G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.909G>A
  hgvsp: ENST00000415083.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-768G>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro303Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

18-23615860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615860
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615860
    reference: chr 18
allele count: 1
allele frequency: 1.440175125295236e-5
allele num: 69436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.662C>T
  hgvsp: ENSP00000444647.1:p.Pro221Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-769C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.908C>T
  hgvsp: ENSP00000414516.2:p.Pro303Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-769C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.839C>T
  hgvsp: ENSP00000438066.2:p.Pro280Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*637C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-769C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*705C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-769C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-769C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17689
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro303Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

18-23615874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615874
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615874
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 65884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-783C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-783C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.894C>T
  hgvsp: ENST00000415083.2:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.825C>T
  hgvsp: ENST00000542420.2:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-783C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.648C>T
  hgvsp: ENST00000539849.1:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*623C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*691C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-783C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-783C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14173
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr298Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-23615876-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615876
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615876
    reference: chr 18
allele count: 3
allele frequency: 4.574425909548352e-5
allele num: 65582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*689T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-785T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-785T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-785T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.823T>G
  hgvsp: ENSP00000438066.2:p.Tyr275Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-785T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*621T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.892T>G
  hgvsp: ENSP00000414516.2:p.Tyr298Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.646T>G
  hgvsp: ENSP00000444647.1:p.Tyr216Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-785T>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr298Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

18-23615882-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615882
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615882
    reference: chr 18
allele count: 1
allele frequency: 1.549474728067185e-5
allele num: 64538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-791A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-791A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-791A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.817A>T
  hgvsp: ENSP00000438066.2:p.Asn273Tyr
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-791A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*615A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.640A>T
  hgvsp: ENSP00000444647.1:p.Asn214Tyr
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*683A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.886A>T
  hgvsp: ENSP00000414516.2:p.Asn296Tyr
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-791A>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6331
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn296Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

18-23615887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615887
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615887
    reference: chr 18
allele count: 1
allele frequency: 1.578930748097388e-5
allele num: 63334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-796G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881G>A
  hgvsp: ENSP00000414516.2:p.Gly294Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-796G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-796G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-796G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635G>A
  hgvsp: ENSP00000444647.1:p.Gly212Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812G>A
  hgvsp: ENSP00000438066.2:p.Gly271Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-796G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610G>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly294Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-23615891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615891
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615891
    reference: chr 18
allele count: 1
allele frequency: 1.618175345480436e-5
allele num: 61798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-4G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-4G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-4G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-800G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-4G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-800G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-800G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-800G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-4G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-800G>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7923
  bin: 7.5e0
  variant carriers: 0
hgvs: c.881-4G>A
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: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

18-23615899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615899
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615899
    reference: chr 18
allele count: 1
allele frequency: 1.696467953720354e-5
allele num: 58946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-12G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-12G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-12G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-12G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-808G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-808G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-808G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-12G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-808G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-808G>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

18-23615907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615907
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615907
    reference: chr 18
allele count: 1
allele frequency: 1.76678445229682e-5
allele num: 56600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-20C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-20C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-816C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-816C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-816C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-816C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-20C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-20C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-20C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-816C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

18-23615908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615908
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615908
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 55362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-817T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-817T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-817T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-817T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-817T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

18-23615919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615919
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615919
    reference: chr 18
allele count: 1
allele frequency: 1.955340033631849e-5
allele num: 51142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-32G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-828G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-32G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-828G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-32G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-32G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-828G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-828G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-32G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-828G>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

18-23615920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615920
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615920
    reference: chr 18
allele count: 1
allele frequency: 1.961784439125829e-5
allele num: 50974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-33C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-829C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-829C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-829C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-33C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-829C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-33C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-33C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-33C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-829C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

18-23615928-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23615928
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23615928
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 46068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.725-837G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.812-41G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*610-41G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.881-837G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*745-837G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*870-837G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.725-837G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.635-41G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.881-41G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*678-41G>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

18-23618470-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618470
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618470
    reference: chr 18
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+49T>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+49T>A
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

18-23618471-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618471
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618471
    reference: chr 18
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+48A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+48A>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

18-23618473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618473
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618473
    reference: chr 18
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+46A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+46A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

18-23618479-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618479
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618479
    reference: chr 18
allele count: 266
allele frequency: 2.195951523957336e-3
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+40T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+40T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 7
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-23618484-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618484
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618484
    reference: chr 18
allele count: 2
allele frequency: 1.650546330835507e-5
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+35A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+35A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13444
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

18-23618491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618491
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618491
    reference: chr 18
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+28A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+28A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

18-23618505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618505
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618505
    reference: chr 18
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+14A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+14A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

18-23618509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618509
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618509
    reference: chr 18
allele count: 11
allele frequency: 9.069621714323406e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+10C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+10C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12380
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-23618514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618514
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618514
    reference: chr 18
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.634+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.811+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*677+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*609+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.724+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.724+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.880+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*744+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*869+5T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.880+5T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.880+5T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-23618532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618532
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618532
    reference: chr 18
allele count: 18
allele frequency: 1.483459427384661e-4
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.711A>G
  hgvsp: ENST00000545952.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*596A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.867A>G
  hgvsp: ENST00000269137.7:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.621A>G
  hgvsp: ENST00000539849.1:c.621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.867A>G
  hgvsp: ENST00000415083.2:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*664A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*856A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.798A>G
  hgvsp: ENST00000542420.2:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.711A>G
  hgvsp: ENST00000542743.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*731A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln289Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

18-23618535-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618535
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618535
    reference: chr 18
allele count: 194
allele frequency: 1.598734198078223e-3
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.618G>C
  hgvsp: ENSP00000444647.1:p.Gln206His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.708G>C
  hgvsp: ENSP00000443097.1:p.Gln236His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*728G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*593G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*853G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.864G>C
  hgvsp: ENSP00000414516.2:p.Gln288His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.864G>C
  hgvsp: ENSP00000269137.7:p.Gln288His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*661G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.795G>C
  hgvsp: ENSP00000438066.2:p.Gln265His
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.708G>C
  hgvsp: ENSP00000444551.1:p.Gln236His
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln288His
num of homozygotes: 3
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

18-23618560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618560
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618560
    reference: chr 18
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*568A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.683A>G
  hgvsp: ENSP00000443097.1:p.Gln228Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.683A>G
  hgvsp: ENSP00000444551.1:p.Gln228Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.839A>G
  hgvsp: ENSP00000414516.2:p.Gln280Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.770A>G
  hgvsp: ENSP00000438066.2:p.Gln257Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*828A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.593A>G
  hgvsp: ENSP00000444647.1:p.Gln198Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*703A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.839A>G
  hgvsp: ENSP00000269137.7:p.Gln280Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*636A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln280Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

18-23618566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618566
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618566
    reference: chr 18
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.833G>A
  hgvsp: ENSP00000269137.7:p.Gly278Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*562G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.833G>A
  hgvsp: ENSP00000414516.2:p.Gly278Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*697G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.764G>A
  hgvsp: ENSP00000438066.2:p.Gly255Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.587G>A
  hgvsp: ENSP00000444647.1:p.Gly196Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.677G>A
  hgvsp: ENSP00000443097.1:p.Gly226Asp
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*822G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*630G>A
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.677G>A
  hgvsp: ENSP00000444551.1:p.Gly226Asp
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly278Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

18-23618569-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618569
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618569
    reference: chr 18
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*694A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*819A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.674A>T
  hgvsp: ENSP00000443097.1:p.His225Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.830A>T
  hgvsp: ENSP00000414516.2:p.His277Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.761A>T
  hgvsp: ENSP00000438066.2:p.His254Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.674A>T
  hgvsp: ENSP00000444551.1:p.His225Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*627A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.830A>T
  hgvsp: ENSP00000269137.7:p.His277Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*559A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.584A>T
  hgvsp: ENSP00000444647.1:p.His195Leu
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His277Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

18-23618585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618585
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618585
    reference: chr 18
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.568G>C
  hgvsp: ENSP00000444647.1:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.814G>C
  hgvsp: ENSP00000414516.2:p.Gly272Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.745G>C
  hgvsp: ENSP00000438066.2:p.Gly249Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.658G>C
  hgvsp: ENSP00000443097.1:p.Gly220Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*678G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.814G>C
  hgvsp: ENSP00000269137.7:p.Gly272Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*543G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*803G>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.658G>C
  hgvsp: ENSP00000444551.1:p.Gly220Arg
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*611G>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly272Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

18-23618586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618586
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618586
    reference: chr 18
allele count: 21
allele frequency: 1.730645613225429e-4
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.744C>T
  hgvsp: ENST00000542420.2:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.813C>T
  hgvsp: ENST00000415083.2:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.813C>T
  hgvsp: ENST00000269137.7:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.567C>T
  hgvsp: ENST00000539849.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*802C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.657C>T
  hgvsp: ENST00000545952.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.657C>T
  hgvsp: ENST00000542743.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*677C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*542C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*610C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr271Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

18-23618587-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618587
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618587
    reference: chr 18
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.812A>C
  hgvsp: ENSP00000269137.7:p.Tyr271Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.566A>C
  hgvsp: ENSP00000444647.1:p.Tyr189Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.656A>C
  hgvsp: ENSP00000443097.1:p.Tyr219Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.743A>C
  hgvsp: ENSP00000438066.2:p.Tyr248Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.812A>C
  hgvsp: ENSP00000414516.2:p.Tyr271Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*609A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*676A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*541A>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.656A>C
  hgvsp: ENSP00000444551.1:p.Tyr219Ser
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*801A>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr271Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-23618620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618620
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618620
    reference: chr 18
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.623C>T
  hgvsp: ENSP00000443097.1:p.Pro208Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*576C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*643C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.779C>T
  hgvsp: ENSP00000414516.2:p.Pro260Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*508C>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.623C>T
  hgvsp: ENSP00000444551.1:p.Pro208Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.533C>T
  hgvsp: ENSP00000444647.1:p.Pro178Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.779C>T
  hgvsp: ENSP00000269137.7:p.Pro260Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.710C>T
  hgvsp: ENSP00000438066.2:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*768C>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro260Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

18-23618634-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618634
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618634
    reference: chr 18
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.620-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*640-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.776-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*765-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*573-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.776-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.620-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.707-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*505-11T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.530-11T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

18-23618642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618642
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618642
    reference: chr 18
allele count: 2
allele frequency: 1.652428243303535e-5
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.620-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*505-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.707-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.776-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.620-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.530-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*573-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*640-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.776-19A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*765-19A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

18-23618644-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618644
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618644
    reference: chr 18
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.620-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.776-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*640-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.707-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*505-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*573-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.620-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.776-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*765-21T>C
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.530-21T>C
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21273
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

18-23618648-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618648
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618648
    reference: chr 18
allele count: 15
allele frequency: 1.239853862558066e-4
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*765-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.620-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*640-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.776-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.707-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.530-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*573-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.776-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*505-25A>T
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.620-25A>T
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12217
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21280
  bin: 9.75e1
  variant carriers: 15
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-23618651-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618651
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618651
    reference: chr 18
allele count: 100
allele frequency: 8.268426187759422e-4
allele num: 120942
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.776-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.707-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.620-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.776-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*573-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*765-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.530-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.620-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*640-28T>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*505-28T>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

18-23618654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23618654
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 23618654
    reference: chr 18
allele count: 10
allele frequency: 8.268426187759422e-5
allele num: 120942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462838
  ensembl transcript: ENST00000585121
  gene symbol: SS18
  hgvsc: ENST00000585121.1:c.*640-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269138
  ensembl transcript: ENST00000269138
  gene symbol: SS18
  hgvsc: ENST00000269138.5:c.*505-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444647
  ensembl transcript: ENST00000539849
  gene symbol: SS18
  hgvsc: ENST00000539849.1:c.530-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000269137
  ensembl transcript: ENST00000269137
  gene symbol: SS18
  hgvsc: ENST00000269137.7:c.776-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000438066
  ensembl transcript: ENST00000542420
  gene symbol: SS18
  hgvsc: ENST00000542420.2:c.707-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000441760
  ensembl transcript: ENST00000539244
  gene symbol: SS18
  hgvsc: ENST00000539244.2:c.*573-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000414516
  ensembl transcript: ENST00000415083
  gene symbol: SS18
  hgvsc: ENST00000415083.2:c.776-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000462363
  ensembl transcript: ENST00000579640
  gene symbol: SS18
  hgvsc: ENST00000579640.1:c.*765-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000444551
  ensembl transcript: ENST00000542743
  gene symbol: SS18
  hgvsc: ENST00000542743.1:c.620-31A>G
  variant of: http://identifiers.org/hgnc/11340
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141380
  ensembl protein: ENSP00000443097
  ensembl transcript: ENST00000545952
  gene symbol: SS18
  hgvsc: ENST00000545952.1:c.620-31A>G
  variant of: http://identifiers.org/hgnc/11340
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14906
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20131
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049034887903129e-4
allele num: 66728
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

DP
type: SiteQuality
SIO_000300: 2.450671e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14908
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.927e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.450279e6

MQ
type: SiteQuality
SIO_000300: 5.815e1

FS
type: SiteQuality
SIO_000300: 3.697e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.903e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20129
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6454
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.122e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.435e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

DP
type: SiteQuality
SIO_000300: 2.450269e6

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20129
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.805e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

FS
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 2.450195e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20130
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.450322e6

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

GenotypeDepth
all individuals: 12860
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.891e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 2.450118e6

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

African
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allele num: 10406
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 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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Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16470
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European (Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

South Asian
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Other
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Latino
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allele num: 11504
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African
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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South Asian
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Latino
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Other
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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FS
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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Other
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Latino
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African
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QD
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Other
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European (Non-Finnish)
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allele num: 66572
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East Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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Latino
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African
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allele frequency: 2.594656928694984e-3
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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East Asian
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allele frequency: 3.482702577199907e-4
allele num: 8614
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European (Non-Finnish)
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allele frequency: 1.503352476021528e-5
allele num: 66518
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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QD
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FS
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 2322
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: -1.33e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3202
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.907145764288621e-5
allele num: 34398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

QD
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MQRankSum
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SIO_000300: 1.22e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -8.200000000000001e-3

DP
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SIO_000300: 1.122537e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.377e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 35294
num of homozygotes: 0

South Asian
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allele num: 11596
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

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

East Asian
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ClippingRankSum
type: SiteQuality
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FS
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.007e1

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

Latino
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allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South 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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3328
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.839940929228672e-5
allele num: 35212
num of homozygotes: 0

MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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SIO_000300: 1.674e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.915451895043732e-5
allele num: 34300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.831e0

VQSLOD
type: SiteQuality
SIO_000300: -3.885e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

QD
type: SiteQuality
SIO_000300: 2.86e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.095964e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 5.814629608093964e-5
allele num: 34396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 530
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.101e0

QD
type: SiteQuality
SIO_000300: 5.8e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7506
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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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.915451895043732e-5
allele num: 34300
num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
type: Population
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African
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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BaseQRankSum
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MQ
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VQSLOD
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DP
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.181998021760633e-5
allele num: 32352
num of homozygotes: 0

Latino
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South Asian
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Other
type: Population
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allele num: 498
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 9.007386056566384e-5
allele num: 11102
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.915708812260536e-4
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num of homozygotes: 0

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

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

FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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QD
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DP
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BaseQRankSum
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SIO_000300: -1.34e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 5020
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10878
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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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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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SIO_000300: -4.28e-1

MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.469571854833114e-5
allele num: 28822
num of homozygotes: 0

African
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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: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2758
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.18982e5

MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.176e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.496676163342829e-5
allele num: 10530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -2.13e-2

BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
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QD
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DP
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MQ
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SIO_000300: 5.981e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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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 count: 0
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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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

South Asian
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African
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allele num: 6246
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InbreedingCoeff
type: SiteQuality
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FS
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DP
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ReadPosRankSum
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MQRankSum
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SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 3.967e1

QD
type: SiteQuality
SIO_000300: 3.097e1

VQSLOD
type: SiteQuality
SIO_000300: -3.321e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.91011e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.831e1

FS
type: SiteQuality
SIO_000300: 1.071e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.172e0

VQSLOD
type: SiteQuality
SIO_000300: -3.483e-1

DP
type: SiteQuality
SIO_000300: 2.567421e6

GenotypeQuality
all individuals: 4485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.819e1

FS
type: SiteQuality
SIO_000300: 7.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.775e-1

DP
type: SiteQuality
SIO_000300: 2.567751e6

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 4803
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 156
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21529
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variant carriers: 1

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 4.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -2.666e0

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

FS
type: SiteQuality
SIO_000300: 2.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

DP
type: SiteQuality
SIO_000300: 2.568302e6

GenotypeQuality
all individuals: 2953
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 258

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
all individuals: 4482
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GenotypeQuality
all individuals: 78
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 263
allele frequency: 1.598201263976665e-2
allele num: 16456
num of homozygotes: 7

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.574395e6

QD
type: SiteQuality
SIO_000300: 1.381e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.32e-2

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.085e0

DP
type: SiteQuality
SIO_000300: 2.570052e6

QD
type: SiteQuality
SIO_000300: 1.556e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
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: 6610
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e0

FS
type: SiteQuality
SIO_000300: 4.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.572115e6

GenotypeQuality
all individuals: 2369
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 78
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13845
bin: 6.25e1
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GenotypeQuality
all individuals: 3947
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

DP
type: SiteQuality
SIO_000300: 2.57429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
all individuals: 4827
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variant carriers: 0

GenotypeQuality
all individuals: 4508
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000240009600384e-5
allele num: 66664
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.636363636363636e-4
allele num: 16500
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

MQ
type: SiteQuality
SIO_000300: 5.99e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

QD
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SIO_000300: 1.337e1

DP
type: SiteQuality
SIO_000300: 2.575091e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.254e0

GenotypeQuality
all individuals: 3
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3950
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.667e1

FS
type: SiteQuality
SIO_000300: 3.714e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 2.575074e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.659e0

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
all individuals: 2370
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GenotypeQuality
all individuals: 21407
bin: 9.75e1
variant carriers: 18

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 17
allele frequency: 1.633986928104575e-3
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.577399e6

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 191

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 193
allele frequency: 1.168988491823138e-2
allele num: 16510
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.695e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.88e-2

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.58637e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21309
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.7877e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.436e1

BaseQRankSum
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SIO_000300: -2.978e0

DP
type: SiteQuality
SIO_000300: 2.57235e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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: 4

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

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

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

Latino
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allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.572766e6

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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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

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

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

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

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
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SIO_000300: 1.16e0

MQ
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SIO_000300: 5.978e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 2.572133e6

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 4.855e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 21

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

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

African
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allele count: 19
allele frequency: 1.825869690563137e-3
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.188e0

QD
type: SiteQuality
SIO_000300: 1.178e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e0

DP
type: SiteQuality
SIO_000300: 2.573742e6

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.16e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

DP
type: SiteQuality
SIO_000300: 2.571236e6

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
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SIO_000300: 4.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 2.569655e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.378e1

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.289e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 3.799e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

DP
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SIO_000300: 2.561722e6

InbreedingCoeff
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SIO_000300: 8.6e-3

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.063e0

MQRankSum
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SIO_000300: 1.08e-1

ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14
allele frequency: 8.486905916585839e-4
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 100

GenotypeQuality
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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: 13033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6428
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4799
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 1.323109306871147e-3
allele num: 66510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.056935190793458e-4
allele num: 6604
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.891287586738628e-4
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.617801047120419e-4
allele num: 11460
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

DP
type: SiteQuality
SIO_000300: 2.55206e6

QD
type: SiteQuality
SIO_000300: 1.67e1