http://identifiers.org/exac.variant/14-75387946-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387946
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387946
    reference: chr 14
allele count: 6
allele frequency: 6.185311945899138e-5
allele num: 97004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869+34T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265+34T>G
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15824
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-75387948-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387948
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387948
    reference: chr 14
allele count: 2
allele frequency: 1.998361343698167e-5
allele num: 100082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349+32G>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869+32G>C
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14784
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-75387949-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387949
    reference: chr 14
allele count: 2
allele frequency: 1.989455883815776e-5
allele num: 100530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497+31G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349+31G>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/14-75387950-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387950
    reference: chr 14
allele count: 4
allele frequency: 4.021232105517131e-5
allele num: 99472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151+30T>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265+30T>G
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19207
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

14-75387968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387968
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387968
    reference: chr 14
allele count: 3
allele frequency: 2.67393978287609e-5
allele num: 112194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869+12G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151+12G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-75387971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387971
    reference: chr 14
allele count: 3
allele frequency: 2.635694329742932e-5
allele num: 113822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265+9C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265+9C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/14-75387980-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387980
    reference: chr 14
allele count: 2
allele frequency: 1.700130910080076e-5
allele num: 117638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265G>T
  hgvsp: ENSP00000346644.2:p.Val89Phe
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265G>T
  hgvsp: ENSP00000351086.4:p.Val89Phe
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265G>T
  hgvsp: ENSP00000450567.1:p.Val89Phe
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265G>T
  hgvsp: ENSP00000452027.1:p.Val89Phe
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265G>T
  hgvsp: ENSP00000450660.1:p.Val89Phe
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349G>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val89Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

14-75387980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387980
    reference: chr 14
allele count: 2
allele frequency: 1.700130910080076e-5
allele num: 117638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.265G>A
  hgvsp: ENSP00000346644.2:p.Val89Ile
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.869G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.349G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.265G>A
  hgvsp: ENSP00000452027.1:p.Val89Ile
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.265G>A
  hgvsp: ENSP00000450567.1:p.Val89Ile
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.265G>A
  hgvsp: ENSP00000450660.1:p.Val89Ile
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.265G>A
  hgvsp: ENSP00000351086.4:p.Val89Ile
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.497G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.151G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val89Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

14-75387981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387981
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387981
    reference: chr 14
allele count: 7
allele frequency: 5.931298615465437e-5
allele num: 118018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.264C>T
  hgvsp: ENST00000354625.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.348C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.264C>T
  hgvsp: ENST00000557413.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.496C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.150C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.264C>T
  hgvsp: ENST00000358328.4:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.264C>T
  hgvsp: ENST00000555647.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.868C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.264C>T
  hgvsp: ENST00000555009.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15961
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.75e1
  variant carriers: 0
hgvs: c.264C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-75387989-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387989
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387989
    reference: chr 14
allele count: 1
allele frequency: 8.382932349735938e-6
allele num: 119290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.488G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.860G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.256G>T
  hgvsp: ENSP00000452027.1:p.Gly86Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.256G>T
  hgvsp: ENSP00000351086.4:p.Gly86Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.256G>T
  hgvsp: ENSP00000450660.1:p.Gly86Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.256G>T
  hgvsp: ENSP00000346644.2:p.Gly86Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.142G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.340G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.256G>T
  hgvsp: ENSP00000450567.1:p.Gly86Cys
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly86Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-75387991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387991
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387991
    reference: chr 14
allele count: 4
allele frequency: 3.347840642785403e-5
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.254G>A
  hgvsp: ENSP00000450567.1:p.Arg85His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.254G>A
  hgvsp: ENSP00000351086.4:p.Arg85His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.254G>A
  hgvsp: ENSP00000452027.1:p.Arg85His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.254G>A
  hgvsp: ENSP00000450660.1:p.Arg85His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.486G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.254G>A
  hgvsp: ENSP00000346644.2:p.Arg85His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.858G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.140G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.338G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg85His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-75387992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75387992
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75387992
    reference: chr 14
allele count: 5
allele frequency: 4.176481397951854e-5
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.337C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.253C>T
  hgvsp: ENSP00000351086.4:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.253C>T
  hgvsp: ENSP00000346644.2:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.253C>T
  hgvsp: ENSP00000452027.1:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.253C>T
  hgvsp: ENSP00000450567.1:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.485C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.253C>T
  hgvsp: ENSP00000450660.1:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.857C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.139C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg85Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-75388001-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388001
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388001
    reference: chr 14
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.848G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.244G>T
  hgvsp: ENSP00000450567.1:p.Val82Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.476G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.244G>T
  hgvsp: ENSP00000346644.2:p.Val82Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.244G>T
  hgvsp: ENSP00000452027.1:p.Val82Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.244G>T
  hgvsp: ENSP00000450660.1:p.Val82Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.130G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.328G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.244G>T
  hgvsp: ENSP00000351086.4:p.Val82Leu
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val82Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-75388001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388001
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388001
    reference: chr 14
allele count: 11
allele frequency: 9.133785040520792e-5
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.130G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.244G>A
  hgvsp: ENSP00000351086.4:p.Val82Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.244G>A
  hgvsp: ENSP00000450567.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.328G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.244G>A
  hgvsp: ENSP00000452027.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.476G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.244G>A
  hgvsp: ENSP00000450660.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.848G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.244G>A
  hgvsp: ENSP00000346644.2:p.Val82Met
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val82Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-75388002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388002
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388002
    reference: chr 14
allele count: 3
allele frequency: 2.489337338400518e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.243C>T
  hgvsp: ENST00000555009.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.847C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.243C>T
  hgvsp: ENST00000354625.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.243C>T
  hgvsp: ENST00000358328.4:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.129C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.243C>T
  hgvsp: ENST00000557413.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.243C>T
  hgvsp: ENST00000555647.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.327C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.475C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp81Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

14-75388007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388007
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388007
    reference: chr 14
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.238G>A
  hgvsp: ENSP00000450567.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.842G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.124G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.238G>A
  hgvsp: ENSP00000450660.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.238G>A
  hgvsp: ENSP00000351086.4:p.Val80Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.238G>A
  hgvsp: ENSP00000346644.2:p.Val80Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.238G>A
  hgvsp: ENSP00000452027.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.470G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.322G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val80Met
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

14-75388008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388008
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388008
    reference: chr 14
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.237C>T
  hgvsp: ENST00000555647.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.841C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.123C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.237C>T
  hgvsp: ENST00000557413.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.237C>T
  hgvsp: ENST00000358328.4:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.237C>T
  hgvsp: ENST00000354625.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.321C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.469C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.237C>T
  hgvsp: ENST00000555009.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly79Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

14-75388013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388013
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388013
    reference: chr 14
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.232A>G
  hgvsp: ENSP00000351086.4:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.232A>G
  hgvsp: ENSP00000450567.1:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.232A>G
  hgvsp: ENSP00000450660.1:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.464A>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.232A>G
  hgvsp: ENSP00000346644.2:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.232A>G
  hgvsp: ENSP00000452027.1:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.836A>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.316A>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.118A>G
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn78Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

14-75388026-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388026
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388026
    reference: chr 14
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.451C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.219C>A
  hgvsp: ENSP00000351086.4:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.219C>A
  hgvsp: ENSP00000450567.1:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.303C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.105C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.219C>A
  hgvsp: ENSP00000450660.1:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.219C>A
  hgvsp: ENSP00000452027.1:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.219C>A
  hgvsp: ENSP00000346644.2:p.Phe73Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.823C>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe73Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-75388032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388032
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388032
    reference: chr 14
allele count: 5
allele frequency: 4.125548697976831e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.213G>A
  hgvsp: ENST00000555647.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.99G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.213G>A
  hgvsp: ENST00000358328.4:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.213G>A
  hgvsp: ENST00000354625.2:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.445G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.213G>A
  hgvsp: ENST00000557413.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.213G>A
  hgvsp: ENST00000555009.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.817G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.297G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala71Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

14-75388033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388033
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388033
    reference: chr 14
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.212C>T
  hgvsp: ENSP00000351086.4:p.Ala71Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.212C>T
  hgvsp: ENSP00000452027.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.816C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.296C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.212C>T
  hgvsp: ENSP00000346644.2:p.Ala71Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.212C>T
  hgvsp: ENSP00000450567.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.444C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.98C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.212C>T
  hgvsp: ENSP00000450660.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala71Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-75388033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388033
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388033
    reference: chr 14
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.212C>A
  hgvsp: ENSP00000452027.1:p.Ala71Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.212C>A
  hgvsp: ENSP00000346644.2:p.Ala71Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.212C>A
  hgvsp: ENSP00000351086.4:p.Ala71Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.212C>A
  hgvsp: ENSP00000450567.1:p.Ala71Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.816C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.212C>A
  hgvsp: ENSP00000450660.1:p.Ala71Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.444C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.296C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.98C>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala71Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-75388034-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388034
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388034
    reference: chr 14
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.211G>T
  hgvsp: ENSP00000450567.1:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.295G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.211G>T
  hgvsp: ENSP00000346644.2:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.211G>T
  hgvsp: ENSP00000351086.4:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.443G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.97G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.211G>T
  hgvsp: ENSP00000452027.1:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.211G>T
  hgvsp: ENSP00000450660.1:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.815G>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala71Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

14-75388035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388035
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388035
    reference: chr 14
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.210G>A
  hgvsp: ENST00000354625.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.294G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.96G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.210G>A
  hgvsp: ENST00000358328.4:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.442G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.210G>A
  hgvsp: ENST00000557413.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.210G>A
  hgvsp: ENST00000555647.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.814G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.210G>A
  hgvsp: ENST00000555009.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu70Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

14-75388038-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388038
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388038
    reference: chr 14
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.207T>C
  hgvsp: ENST00000354625.2:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.207T>C
  hgvsp: ENST00000557413.1:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.207T>C
  hgvsp: ENST00000358328.4:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.207T>C
  hgvsp: ENST00000555009.1:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.207T>C
  hgvsp: ENST00000555647.1:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.811T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.93T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.439T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.291T>C
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr69Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

14-75388043-CCTCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388043
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388039
    reference: chr 14
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.198_201delTGAG
  hgvsp: ENSP00000450567.1:p.Ser66ArgfsTer33
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.802_805delTGAG
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.198_201delTGAG
  hgvsp: ENSP00000346644.2:p.Ser66ArgfsTer33
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.198_201delTGAG
  hgvsp: ENSP00000452027.1:p.Ser66ArgfsTer33
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.198_201delTGAG
  hgvsp: ENSP00000450660.1:p.Ser66ArgfsTer33
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.282_285delTGAG
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.430_433delTGAG
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.198_201delTGAG
  hgvsp: ENSP00000351086.4:p.Ser66ArgfsTer33
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.84_87delTGAG
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser66ArgfsTer33
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CCTCA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

14-75388051-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388051
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388051
    reference: chr 14
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.194T>C
  hgvsp: ENSP00000450567.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.80T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.194T>C
  hgvsp: ENSP00000452027.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.194T>C
  hgvsp: ENSP00000346644.2:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.798T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.194T>C
  hgvsp: ENSP00000450660.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.426T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.194T>C
  hgvsp: ENSP00000351086.4:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.278T>C
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val65Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-75388053-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388053
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388053
    reference: chr 14
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.192T>C
  hgvsp: ENST00000358328.4:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.424T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.192T>C
  hgvsp: ENST00000557413.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.796T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.192T>C
  hgvsp: ENST00000555647.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.78T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.276T>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.192T>C
  hgvsp: ENST00000354625.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.192T>C
  hgvsp: ENST00000555009.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp64Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-75388053-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388053
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388053
    reference: chr 14
allele count: 7
allele frequency: 5.77072101037081e-5
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.192T>A
  hgvsp: ENSP00000351086.4:p.Asp64Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.192T>A
  hgvsp: ENSP00000450567.1:p.Asp64Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.192T>A
  hgvsp: ENSP00000450660.1:p.Asp64Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.192T>A
  hgvsp: ENSP00000346644.2:p.Asp64Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.78T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.424T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.192T>A
  hgvsp: ENSP00000452027.1:p.Asp64Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.276T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.796T>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp64Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

14-75388055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388055
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388055
    reference: chr 14
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.190G>A
  hgvsp: ENSP00000346644.2:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.190G>A
  hgvsp: ENSP00000351086.4:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.274G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.190G>A
  hgvsp: ENSP00000450567.1:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.422G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.190G>A
  hgvsp: ENSP00000452027.1:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.190G>A
  hgvsp: ENSP00000450660.1:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.76G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.794G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp64Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

14-75388056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388056
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388056
    reference: chr 14
allele count: 6
allele frequency: 4.945924558164073e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.189C>T
  hgvsp: ENST00000557413.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.273C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.421C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.75C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.189C>T
  hgvsp: ENST00000555647.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.189C>T
  hgvsp: ENST00000354625.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.189C>T
  hgvsp: ENST00000555009.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.793C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.189C>T
  hgvsp: ENST00000358328.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg63Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

14-75388057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388057
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388057
    reference: chr 14
allele count: 7
allele frequency: 5.770055062811171e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.74G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.188G>A
  hgvsp: ENSP00000346644.2:p.Arg63His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.272G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.420G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.188G>A
  hgvsp: ENSP00000450567.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.188G>A
  hgvsp: ENSP00000452027.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.188G>A
  hgvsp: ENSP00000450660.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.188G>A
  hgvsp: ENSP00000351086.4:p.Arg63His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.792G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg63His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-75388058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388058
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388058
    reference: chr 14
allele count: 25
allele frequency: 2.060666007253544e-4
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.187C>T
  hgvsp: ENSP00000450660.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.187C>T
  hgvsp: ENSP00000452027.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.791C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.187C>T
  hgvsp: ENSP00000351086.4:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.187C>T
  hgvsp: ENSP00000450567.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.419C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.187C>T
  hgvsp: ENSP00000346644.2:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.271C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.73C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg63Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-75388066-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388066
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388066
    reference: chr 14
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.179C>G
  hgvsp: ENSP00000450567.1:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.411C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.179C>G
  hgvsp: ENSP00000351086.4:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.263C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.783C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.179C>G
  hgvsp: ENSP00000346644.2:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.65C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.179C>G
  hgvsp: ENSP00000452027.1:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.179C>G
  hgvsp: ENSP00000450660.1:p.Ala60Gly
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala60Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-75388072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388072
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388072
    reference: chr 14
allele count: 23
allele frequency: 1.895312809018393e-4
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.405G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.173G>A
  hgvsp: ENSP00000452027.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.173G>A
  hgvsp: ENSP00000351086.4:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.777G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.59G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.173G>A
  hgvsp: ENSP00000450567.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.173G>A
  hgvsp: ENSP00000450660.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.173G>A
  hgvsp: ENSP00000346644.2:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.257G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35545
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg58Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-75388080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388080
    reference: chr 14
allele count: 11
allele frequency: 9.06409136604097e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.165G>A
  hgvsp: ENST00000555647.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.397G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.165G>A
  hgvsp: ENST00000557413.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-4G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.165G>A
  hgvsp: ENST00000354625.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.769G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.165G>A
  hgvsp: ENST00000555009.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.165G>A
  hgvsp: ENST00000358328.4:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.249G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: n.55-4G>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-75388081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388081
    reference: chr 14
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.248C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.164C>T
  hgvsp: ENSP00000450660.1:p.Thr55Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.164C>T
  hgvsp: ENSP00000452027.1:p.Thr55Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.396C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-5C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.164C>T
  hgvsp: ENSP00000346644.2:p.Thr55Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.164C>T
  hgvsp: ENSP00000450567.1:p.Thr55Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.164C>T
  hgvsp: ENSP00000351086.4:p.Thr55Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.768C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr55Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

14-75388086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388086
    reference: chr 14
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.159G>A
  hgvsp: ENST00000555009.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.159G>A
  hgvsp: ENST00000557413.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.159G>A
  hgvsp: ENST00000354625.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.159G>A
  hgvsp: ENST00000555647.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.391G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.763G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.243G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.159G>A
  hgvsp: ENST00000358328.4:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-10G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala53Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-75388087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388087
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388087
    reference: chr 14
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-11C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.242C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.158C>T
  hgvsp: ENSP00000351086.4:p.Ala53Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.158C>T
  hgvsp: ENSP00000346644.2:p.Ala53Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.390C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.158C>T
  hgvsp: ENSP00000450567.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.158C>T
  hgvsp: ENSP00000452027.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.762C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.158C>T
  hgvsp: ENSP00000450660.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala53Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

14-75388106-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388106
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388107
    reference: chr 14
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-31dupA
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.370dupA
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.138dupA
  hgvsp: ENSP00000450567.1:p.Arg47ThrfsTer2
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.222dupA
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.138dupA
  hgvsp: ENSP00000351086.4:p.Arg47ThrfsTer2
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.742dupA
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.138dupA
  hgvsp: ENSP00000450660.1:p.Arg47ThrfsTer2
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.138dupA
  hgvsp: ENSP00000346644.2:p.Arg47ThrfsTer2
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.138dupA
  hgvsp: ENSP00000452027.1:p.Arg47ThrfsTer2
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg47ThrfsTer2
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

14-75388111-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388111
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388111
    reference: chr 14
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.134C>A
  hgvsp: ENSP00000450660.1:p.Thr45Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.366C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.134C>A
  hgvsp: ENSP00000346644.2:p.Thr45Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-35C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.218C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.134C>A
  hgvsp: ENSP00000351086.4:p.Thr45Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.134C>A
  hgvsp: ENSP00000450567.1:p.Thr45Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.738C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.134C>A
  hgvsp: ENSP00000452027.1:p.Thr45Lys
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr45Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

14-75388124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388124
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388124
    reference: chr 14
allele count: 17
allele frequency: 1.400652539300662e-4
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.121G>A
  hgvsp: ENSP00000450567.1:p.Val41Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.121G>A
  hgvsp: ENSP00000351086.4:p.Val41Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-48G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.353G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.121G>A
  hgvsp: ENSP00000452027.1:p.Val41Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.121G>A
  hgvsp: ENSP00000346644.2:p.Val41Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.205G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.725G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.121G>A
  hgvsp: ENSP00000450660.1:p.Val41Met
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 35533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val41Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

14-75388132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388132
    reference: chr 14
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.113C>T
  hgvsp: ENSP00000452027.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.113C>T
  hgvsp: ENSP00000346644.2:p.Ala38Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.113C>T
  hgvsp: ENSP00000450567.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.197C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.717C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.113C>T
  hgvsp: ENSP00000351086.4:p.Ala38Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.113C>T
  hgvsp: ENSP00000450660.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.345C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-56C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7423
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala38Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

14-75388134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388134
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388134
    reference: chr 14
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.111G>A
  hgvsp: ENST00000354625.2:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-58G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.715G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.343G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.111G>A
  hgvsp: ENST00000557413.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.195G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.111G>A
  hgvsp: ENST00000555009.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.111G>A
  hgvsp: ENST00000555647.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.111G>A
  hgvsp: ENST00000358328.4:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val37Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-75388139-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388139
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388139
    reference: chr 14
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.106A>T
  hgvsp: ENSP00000346644.2:p.Arg36Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.106A>T
  hgvsp: ENSP00000450567.1:p.Arg36Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.710A>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.106A>T
  hgvsp: ENSP00000450660.1:p.Arg36Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.106A>T
  hgvsp: ENSP00000351086.4:p.Arg36Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.106A>T
  hgvsp: ENSP00000452027.1:p.Arg36Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.338A>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.190A>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-63A>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg36Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/14-75388144-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388144
    reference: chr 14
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-68G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.705G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.101G>T
  hgvsp: ENSP00000351086.4:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.185G>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.101G>T
  hgvsp: ENSP00000452027.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.101G>T
  hgvsp: ENSP00000346644.2:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.101G>T
  hgvsp: ENSP00000450567.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.101G>T
  hgvsp: ENSP00000450660.1:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.333G>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg34Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-75388144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388144
    reference: chr 14
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.101G>A
  hgvsp: ENSP00000351086.4:p.Arg34His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.705G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.101G>A
  hgvsp: ENSP00000452027.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.101G>A
  hgvsp: ENSP00000450660.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-68G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.185G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.101G>A
  hgvsp: ENSP00000346644.2:p.Arg34His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.101G>A
  hgvsp: ENSP00000450567.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.333G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg34His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-75388145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388145
    reference: chr 14
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.332C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.100C>T
  hgvsp: ENSP00000450660.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-69C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.100C>T
  hgvsp: ENSP00000452027.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.100C>T
  hgvsp: ENSP00000450567.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.100C>T
  hgvsp: ENSP00000346644.2:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.704C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.184C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.100C>T
  hgvsp: ENSP00000351086.4:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg34Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

14-75388145-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388145
    reference: chr 14
allele count: 5
allele frequency: 4.119769952045878e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.100C>A
  hgvsp: ENSP00000452027.1:p.Arg34Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.704C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.100C>A
  hgvsp: ENSP00000346644.2:p.Arg34Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.100C>A
  hgvsp: ENSP00000450660.1:p.Arg34Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.100C>A
  hgvsp: ENSP00000450567.1:p.Arg34Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.332C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.184C>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.100C>A
  hgvsp: ENSP00000351086.4:p.Arg34Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-69C>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg34Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-75388149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388149
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388149
    reference: chr 14
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.180G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.96G>A
  hgvsp: ENST00000557413.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.96G>A
  hgvsp: ENST00000358328.4:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.96G>A
  hgvsp: ENST00000354625.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.96G>A
  hgvsp: ENST00000555647.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.328G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-73G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.96G>A
  hgvsp: ENST00000555009.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.700G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43003
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln32Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

14-75388153-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388153
    reference: chr 14
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-77A>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.92A>C
  hgvsp: ENSP00000346644.2:p.Glu31Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.324A>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.92A>C
  hgvsp: ENSP00000452027.1:p.Glu31Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.92A>C
  hgvsp: ENSP00000351086.4:p.Glu31Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.92A>C
  hgvsp: ENSP00000450567.1:p.Glu31Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.696A>C
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.92A>C
  hgvsp: ENSP00000450660.1:p.Glu31Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.176A>C
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu31Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

14-75388157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388157
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388157
    reference: chr 14
allele count: 66
allele frequency: 5.438365194462755e-4
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.320C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.88C>T
  hgvsp: ENST00000555647.1:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.88C>T
  hgvsp: ENST00000358328.4:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.692C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.172C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-81C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.88C>T
  hgvsp: ENST00000354625.2:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.88C>T
  hgvsp: ENST00000555009.1:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.88C>T
  hgvsp: ENST00000557413.1:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu30Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

14-75388163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388163
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388163
    reference: chr 14
allele count: 7
allele frequency: 5.768153202149049e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.82G>A
  hgvsp: ENSP00000452027.1:p.Val28Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.314G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.82G>A
  hgvsp: ENSP00000450660.1:p.Val28Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.166G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.686G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.82G>A
  hgvsp: ENSP00000450567.1:p.Val28Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-87G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.82G>A
  hgvsp: ENSP00000346644.2:p.Val28Met
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.82G>A
  hgvsp: ENSP00000351086.4:p.Val28Met
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42920
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val28Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

14-75388164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388164
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388164
    reference: chr 14
allele count: 6
allele frequency: 4.944375772558714e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.165C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.81C>T
  hgvsp: ENST00000354625.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.81C>T
  hgvsp: ENST00000557413.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.81C>T
  hgvsp: ENST00000555647.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.81C>T
  hgvsp: ENST00000358328.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.685C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.81C>T
  hgvsp: ENST00000555009.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-88C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.313C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7405
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His27His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

14-75388172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388172
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388172
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.73C>G
  hgvsp: ENSP00000351086.4:p.Gln25Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.677C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.73C>G
  hgvsp: ENSP00000450567.1:p.Gln25Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.73C>G
  hgvsp: ENSP00000346644.2:p.Gln25Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.305C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-96C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.157C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.73C>G
  hgvsp: ENSP00000450660.1:p.Gln25Glu
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.73C>G
  hgvsp: ENSP00000452027.1:p.Gln25Glu
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln25Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum

14-75388175-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388175
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388175
    reference: chr 14
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-99T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.70T>A
  hgvsp: ENSP00000450660.1:p.Ser24Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.674T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.302T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.70T>A
  hgvsp: ENSP00000450567.1:p.Ser24Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.154T>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.70T>A
  hgvsp: ENSP00000452027.1:p.Ser24Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.70T>A
  hgvsp: ENSP00000351086.4:p.Ser24Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.70T>A
  hgvsp: ENSP00000346644.2:p.Ser24Thr
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser24Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-75388177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388177
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388177
    reference: chr 14
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.300G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.152G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.68G>A
  hgvsp: ENSP00000346644.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.68G>A
  hgvsp: ENSP00000450567.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.68G>A
  hgvsp: ENSP00000452027.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.68G>A
  hgvsp: ENSP00000351086.4:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-101G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.68G>A
  hgvsp: ENSP00000450660.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.672G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg23Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

14-75388178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388178
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388178
    reference: chr 14
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.67C>T
  hgvsp: ENSP00000450660.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.67C>T
  hgvsp: ENSP00000346644.2:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-102C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.151C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.67C>T
  hgvsp: ENSP00000450567.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.671C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.67C>T
  hgvsp: ENSP00000452027.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.299C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.67C>T
  hgvsp: ENSP00000351086.4:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg23Trp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

14-75388181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388181
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388181
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.296G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.668G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.64G>A
  hgvsp: ENSP00000452027.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.148G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.64G>A
  hgvsp: ENSP00000450660.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-105G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.64G>A
  hgvsp: ENSP00000351086.4:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.64G>A
  hgvsp: ENSP00000346644.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.64G>A
  hgvsp: ENSP00000450567.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala22Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-75388183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388183
    reference: chr 14
allele count: 44078
allele frequency: 3.636798679867987e-1
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.62G>A
  hgvsp: ENSP00000450567.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.62G>A
  hgvsp: ENSP00000452027.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.294G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.62G>A
  hgvsp: ENSP00000351086.4:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.666G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.146G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.62G>A
  hgvsp: ENSP00000346644.2:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.62G>A
  hgvsp: ENSP00000450660.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-107G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 2190
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 594
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 3068
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 2.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 6.75e1
  variant carriers: 3106
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 1006
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 2.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 9.25e1
  variant carriers: 1810
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.75e1
  variant carriers: 2490
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 2048
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 9.75e1
  variant carriers: 8329
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 2698
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 1455
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.25e1
  variant carriers: 3023
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.75e1
  variant carriers: 2902
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 4
hgvs: p.Arg21Gln
num of homozygotes: 8618
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

14-75388184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388184
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388184
    reference: chr 14
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.145C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.61C>T
  hgvsp: ENSP00000346644.2:p.Arg21Ter
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.61C>T
  hgvsp: ENSP00000452027.1:p.Arg21Ter
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.293C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.61C>T
  hgvsp: ENSP00000351086.4:p.Arg21Ter
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-108C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.61C>T
  hgvsp: ENSP00000450660.1:p.Arg21Ter
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.665C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.61C>T
  hgvsp: ENSP00000450567.1:p.Arg21Ter
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg21Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

14-75388189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388189
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388189
    reference: chr 14
allele count: 6
allele frequency: 4.949759936643073e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.56G>A
  hgvsp: ENSP00000346644.2:p.Cys19Tyr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.56G>A
  hgvsp: ENSP00000452027.1:p.Cys19Tyr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.288G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.56G>A
  hgvsp: ENSP00000450660.1:p.Cys19Tyr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.140G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-113G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.56G>A
  hgvsp: ENSP00000351086.4:p.Cys19Tyr
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.660G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.56G>A
  hgvsp: ENSP00000450567.1:p.Cys19Tyr
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys19Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

14-75388196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388196
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388196
    reference: chr 14
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.49G>A
  hgvsp: ENSP00000452027.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.281G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.653G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-120G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.49G>A
  hgvsp: ENSP00000346644.2:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.49G>A
  hgvsp: ENSP00000450660.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.49G>A
  hgvsp: ENSP00000351086.4:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.49G>A
  hgvsp: ENSP00000450567.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.133G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu17Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

14-75388199-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388199
    reference: chr 14
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.46C>G
  hgvsp: ENSP00000452027.1:p.Pro16Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.46C>G
  hgvsp: ENSP00000450660.1:p.Pro16Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.46C>G
  hgvsp: ENSP00000450567.1:p.Pro16Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-123C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.130C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.650C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.46C>G
  hgvsp: ENSP00000346644.2:p.Pro16Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.46C>G
  hgvsp: ENSP00000351086.4:p.Pro16Ala
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.278C>G
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro16Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-75388200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388200
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388200
    reference: chr 14
allele count: 294
allele frequency: 2.431158521458695e-3
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.45G>A
  hgvsp: ENST00000354625.2:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.45G>A
  hgvsp: ENST00000557413.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.649G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.129G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.45G>A
  hgvsp: ENST00000358328.4:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.45G>A
  hgvsp: ENST00000555647.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-124G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.277G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.45G>A
  hgvsp: ENST00000555009.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 27279
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu15Glu
num of homozygotes: 5
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-75388205-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388205
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388205
    reference: chr 14
allele count: 3
allele frequency: 2.488924286923192e-5
allele num: 120534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.124C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.644C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.40C>G
  hgvsp: ENSP00000351086.4:p.Leu14Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.40C>G
  hgvsp: ENSP00000450567.1:p.Leu14Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.272C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.40C>G
  hgvsp: ENSP00000346644.2:p.Leu14Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.40C>G
  hgvsp: ENSP00000450660.1:p.Leu14Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.40C>G
  hgvsp: ENSP00000452027.1:p.Leu14Val
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-129C>G
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu14Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

14-75388208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388208
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388208
    reference: chr 14
allele count: 9
allele frequency: 7.479804527775008e-5
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.37G>A
  hgvsp: ENSP00000452027.1:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.37G>A
  hgvsp: ENSP00000450660.1:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.37G>A
  hgvsp: ENSP00000346644.2:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.37G>A
  hgvsp: ENSP00000351086.4:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.37G>A
  hgvsp: ENSP00000450567.1:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.269G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.641G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.121G>A
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-132G>A
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly13Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

14-75388209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388209
    reference: chr 14
allele count: 4
allele frequency: 3.32474441027346e-5
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.640C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.268C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.36C>T
  hgvsp: ENST00000358328.4:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-133C>T
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.36C>T
  hgvsp: ENST00000354625.2:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.36C>T
  hgvsp: ENST00000555009.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.36C>T
  hgvsp: ENST00000557413.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.36C>T
  hgvsp: ENST00000555647.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.120C>T
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro12Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-75388212-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388212
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388212
    reference: chr 14
allele count: 2
allele frequency: 1.667973245709139e-5
allele num: 119906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.33C>G
  hgvsp: ENSP00000351086.4:p.Ser11Arg
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.265C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.33C>G
  hgvsp: ENSP00000450567.1:p.Ser11Arg
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.33C>G
  hgvsp: ENSP00000450660.1:p.Ser11Arg
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.33C>G
  hgvsp: ENSP00000452027.1:p.Ser11Arg
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-136C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.33C>G
  hgvsp: ENSP00000346644.2:p.Ser11Arg
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.637C>G
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.117C>G
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser11Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-75388218-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75388218
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 75388219
    reference: chr 14
allele count: 1
allele frequency: 8.425025696328374e-6
allele num: 118694
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000452027
  ensembl transcript: ENST00000555647
  gene symbol: RPS6KL1
  hgvsc: ENST00000555647.1:c.26dupT
  hgvsp: ENSP00000452027.1:p.Pro10AlafsTer8
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000553894
  gene symbol: RPS6KL1
  hgvsc: ENST00000553894.2:n.630dupT
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000554900
  gene symbol: RPS6KL1
  hgvsc: ENST00000554900.1:n.55-143dupT
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450567
  ensembl transcript: ENST00000557413
  gene symbol: RPS6KL1
  hgvsc: ENST00000557413.1:c.26dupT
  hgvsp: ENSP00000450567.1:p.Pro10AlafsTer8
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000351086
  ensembl transcript: ENST00000358328
  gene symbol: RPS6KL1
  hgvsc: ENST00000358328.4:c.26dupT
  hgvsp: ENSP00000351086.4:p.Pro10AlafsTer8
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000555834
  gene symbol: RPS6KL1
  hgvsc: ENST00000555834.1:n.110dupT
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198208
  ensembl transcript: ENST00000557383
  gene symbol: RPS6KL1
  hgvsc: ENST00000557383.1:n.258dupT
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000346644
  ensembl transcript: ENST00000354625
  gene symbol: RPS6KL1
  hgvsc: ENST00000354625.2:c.26dupT
  hgvsp: ENSP00000346644.2:p.Pro10AlafsTer8
  variant of: http://identifiers.org/hgnc/20222
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198208
  ensembl protein: ENSP00000450660
  ensembl transcript: ENST00000555009
  gene symbol: RPS6KL1
  hgvsc: ENST00000555009.1:c.26dupT
  hgvsp: ENSP00000450660.1:p.Pro10AlafsTer8
  variant of: http://identifiers.org/hgnc/20222
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro10AlafsTer8
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 11465
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 847
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 6855
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 988
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2716
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.123174840883564e-4
allele num: 53420
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.4e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.075e0

FS
type: SiteQuality
SIO_000300: 6.751e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.884e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

DP
type: SiteQuality
SIO_000300: 1.059231e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

GenotypeQuality
all individuals: 4797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4507
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.799985600115199e-5
allele num: 55556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.373626373626374e-3
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.087207e6

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: -1.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.667e0

GenotypeQuality
all individuals: 19975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6252
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.20627261761158e-4
allele num: 8290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.794365691727974e-5
allele num: 55730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 1.101334e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 5.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

FS
type: SiteQuality
SIO_000300: 3.462e0

GenotypeQuality
all individuals: 3446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 838
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3942
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 4.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.296340885046149e-5
allele num: 54822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8319e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

QD
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 1.115089e6

MQRankSum
type: SiteQuality
SIO_000300: -1.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.757e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.78e1

VQSLOD
type: SiteQuality
SIO_000300: -4.408e0

GenotypeQuality
all individuals: 1320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.160293799956794e-4
allele num: 9258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.610461558282604e-5
allele num: 62094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.363872e6

FS
type: SiteQuality
SIO_000300: 3.602e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.709048221058335e-4
allele num: 11074
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.393449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542020046260601e-5
allele num: 64850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 1.449509e6

QD
type: SiteQuality
SIO_000300: 1.126e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

FS
type: SiteQuality
SIO_000300: 1.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

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

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.007455168245013e-4
allele num: 9926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 1.449509e6

FS
type: SiteQuality
SIO_000300: 1.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
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SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.672240802675585e-4
allele num: 5980
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.22055569215638e-5
allele num: 65072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 4.25e0

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.455386e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522348069662648e-5
allele num: 65688
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.062e0

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

FS
type: SiteQuality
SIO_000300: 5.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 1.477393e6

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

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.040900106431504e-5
allele num: 65770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
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Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

DP
type: SiteQuality
SIO_000300: 1.481351e6

FS
type: SiteQuality
SIO_000300: 1.3716e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553181155900923e-5
allele num: 65888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

African
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: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 1.4852e6

FS
type: SiteQuality
SIO_000300: 3.728e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-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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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5625e-4
allele num: 6400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
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SIO_000300: -2.443e0

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 1.495522e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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Latino
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East Asian
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allele frequency: 9.289363678588017e-4
allele num: 8612
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European (Non-Finnish)
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allele frequency: 3.019597185735423e-5
allele num: 66234
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
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SIO_000300: -2.443e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 1.939864209505335e-4
allele num: 10310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.03e-1

ReadPosRankSum
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QD
type: SiteQuality
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DP
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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ClippingRankSum
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SIO_000300: -8.22e-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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African
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Latino
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6490
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East Asian
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allele frequency: 1.159017153453871e-4
allele num: 8628
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

Other
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
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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
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.28e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 66476
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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.536e1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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ReadPosRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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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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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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Other
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MQ
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

African
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allele count: 2
allele frequency: 1.929384526336099e-4
allele num: 10366
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 3.0e-4

ClippingRankSum
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SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 9.542999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 1.50832e6

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

South Asian
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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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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African
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allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.5008254539997e-5
allele num: 66630
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Other
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num of homozygotes: 0

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

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

African
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allele num: 10378
num of homozygotes: 0

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

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

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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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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African
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allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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QD
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.619e1

BaseQRankSum
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DP
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SIO_000300: 1.509774e6

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
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allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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QD
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DP
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 66672
num of homozygotes: 0

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

East Asian
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.510905e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

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

GenotypeQuality
all individuals: 1224
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
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: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.511259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.778120184899846e-4
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.511478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 1247
bin: 9.75e1
variant carriers: 25

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

GenotypeQuality
all individuals: 2568
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1929
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42954
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 25
allele frequency: 1.514233797698365e-3
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
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

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.354e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

DP
type: SiteQuality
SIO_000300: 1.514589e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42954
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 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: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.514065e6

FS
type: SiteQuality
SIO_000300: 3.931e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 2844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7415
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 1.924187030979411e-3
allele num: 10394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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: 66698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

DP
type: SiteQuality
SIO_000300: 1.516506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 758
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variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
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variant carriers: 0

GenotypeQuality
all individuals: 42979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 1.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.516302e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
all individuals: 792
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2849
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1929
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 758
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7424
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.516152e6

FS
type: SiteQuality
SIO_000300: 1.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 43001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 7424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1929
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variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.512e0

BaseQRankSum
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SIO_000300: -1.373e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 1.51615e6

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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SIO_000300: 1.516276e6

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.02e0

VQSLOD
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SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
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SIO_000300: 5.948e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 1.51661e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
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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: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.51724e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.189e0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 17
allele frequency: 1.029554263565892e-3
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

DP
type: SiteQuality
SIO_000300: 1.519454e6

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-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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variant carriers: 0

European (Finnish)
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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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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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

South Asian
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Other
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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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num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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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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Other
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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InbreedingCoeff
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MQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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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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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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Other
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 8.39e-1

QD
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SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
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SIO_000300: 3.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

VQSLOD
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SIO_000300: 8.33e-1

DP
type: SiteQuality
SIO_000300: 1.51751e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
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MQRankSum
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SIO_000300: -1.47e-1

ClippingRankSum
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SIO_000300: -2.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
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GenotypeQuality
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variant carriers: 5

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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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

African
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allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
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

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

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.87e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.434e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.401e1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.517563e6

FS
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.953e1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 66

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 6.058857472590883e-3
allele num: 10398
num of homozygotes: 0

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

Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.08e-1

MQ
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SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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 frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.049380865289479e-4
allele num: 66706
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 frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

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

Latino
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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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South Asian
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European (Finnish)
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East Asian
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allele frequency: 6.938020351526364e-4
allele num: 8648
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Other
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

Other
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num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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DP
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SIO_000300: 1.521197e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Other
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allele count: 0
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.953e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

European (Finnish)
type: Population
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
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQ
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.521532e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

European (Non-Finnish)
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allele count: 24576
allele frequency: 3.687543138372896e-1
allele num: 66646
num of homozygotes: 4626

East Asian
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allele frequency: 5.415602507545856e-1
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South Asian
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allele frequency: 2.902580879680116e-1
allele num: 16506
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Latino
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allele frequency: 4.998267198059262e-1
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African
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allele frequency: 2.168303485461198e-1
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Other
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allele frequency: 3.211920529801324e-1
allele num: 906
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European (Finnish)
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allele count: 1734
allele frequency: 2.627272727272728e-1
allele num: 6600
num of homozygotes: 249

ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele num: 16512
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European (Finnish)
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Latino
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allele num: 11564
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
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Other
type: Population
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DP
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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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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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 9.005493350944076e-5
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

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

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
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
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SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

FS
type: SiteQuality
SIO_000300: 5.045e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.431e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.584825e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.096e-1

DP
type: SiteQuality
SIO_000300: 1.581528e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.739e1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 289

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 282
allele frequency: 2.725164282953228e-2
allele num: 10348
num of homozygotes: 5

Latino
type: Population
allele count: 7
allele frequency: 6.072172102706454e-4
allele num: 11528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.588276e6

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
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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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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 866
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GenotypeQuality
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GenotypeQuality
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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: 127
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GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.215e0

DP
type: SiteQuality
SIO_000300: 1.569653e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 171
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 168
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GenotypeQuality
all individuals: 47094
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.488574917146346e-4
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.55629439322956e-5
allele num: 66170
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.361e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

DP
type: SiteQuality
SIO_000300: 1.564791e6

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.507131166705635e-4
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

DP
type: SiteQuality
SIO_000300: 1.563983e6

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 9.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-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
all individuals: 574
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.219066195294405e-4
allele num: 16406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.552832e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.713e1