12-30906393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906393
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906393
    reference: chr 12
allele count: 53
allele frequency: 4.365301617632524e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.62G>A
  hgvsp: ENSP00000438010.1:p.Ser21Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.305G>A
  hgvsp: ENSP00000391479.1:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.201G>A
  hgvsp: ENSP00000443145.1:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1124G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.62G>A
  hgvsp: ENSP00000441005.1:p.Ser21Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.305G>A
  hgvsp: ENSP00000379150.2:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.62G>A
  hgvsp: ENSP00000442295.1:p.Ser21Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-612G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.305G>A
  hgvsp: ENSP00000403876.2:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.305G>A
  hgvsp: ENSP00000251071.5:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1267G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1292G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.305G>A
  hgvsp: ENSP00000298892.5:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.62G>A
  hgvsp: ENSP00000443353.1:p.Ser21Asn
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser102Asn
num of homozygotes: 2
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-30906396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906396
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906396
    reference: chr 12
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.302T>C
  hgvsp: ENSP00000379150.2:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.59T>C
  hgvsp: ENSP00000441005.1:p.Leu20Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.302T>C
  hgvsp: ENSP00000251071.5:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.302T>C
  hgvsp: ENSP00000403876.2:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.198T>C
  hgvsp: ENSP00000443145.1:p.Leu67Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.59T>C
  hgvsp: ENSP00000443353.1:p.Leu20Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1264T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.59T>C
  hgvsp: ENSP00000442295.1:p.Leu20Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.302T>C
  hgvsp: ENSP00000391479.1:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.302T>C
  hgvsp: ENSP00000298892.5:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.59T>C
  hgvsp: ENSP00000438010.1:p.Leu20Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1289T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1121T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-615T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu101Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-30906404-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906404
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906404
    reference: chr 12
allele count: 23
allele frequency: 1.894376173689586e-4
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.190G>C
  hgvsp: ENSP00000443145.1:p.Gln64His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.294G>C
  hgvsp: ENSP00000403876.2:p.Gln98His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1281G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.294G>C
  hgvsp: ENSP00000379150.2:p.Gln98His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.294G>C
  hgvsp: ENSP00000251071.5:p.Gln98His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.51G>C
  hgvsp: ENSP00000443353.1:p.Gln17His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.51G>C
  hgvsp: ENSP00000441005.1:p.Gln17His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.294G>C
  hgvsp: ENSP00000391479.1:p.Gln98His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.51G>C
  hgvsp: ENSP00000442295.1:p.Gln17His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1256G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1113G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.294G>C
  hgvsp: ENSP00000298892.5:p.Gln98His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-623G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.51G>C
  hgvsp: ENSP00000438010.1:p.Gln17His
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Gln98His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-30906433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906433
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.22G>A
  hgvsp: ENSP00000438010.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.22G>A
  hgvsp: ENSP00000442295.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.265G>A
  hgvsp: ENSP00000403876.2:p.Val89Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.265G>A
  hgvsp: ENSP00000298892.5:p.Val89Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.22G>A
  hgvsp: ENSP00000441005.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.265G>A
  hgvsp: ENSP00000379150.2:p.Val89Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.265G>A
  hgvsp: ENSP00000391479.1:p.Val89Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.22G>A
  hgvsp: ENSP00000443353.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1084G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.265G>A
  hgvsp: ENSP00000251071.5:p.Val89Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1227G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-652G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1252G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.161G>A
  hgvsp: ENSP00000443145.1:p.Val55Met
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val89Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

12-30906434-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906434
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906434
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1226A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.264A>G
  hgvsp: ENST00000298892.5:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.264A>G
  hgvsp: ENST00000454014.2:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.160A>G
  hgvsp: ENST00000537553.1:c.160A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-653A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.264A>G
  hgvsp: ENST00000251071.5:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.21A>G
  hgvsp: ENST00000540436.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1083A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1251A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.21A>G
  hgvsp: ENST00000537108.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.21A>G
  hgvsp: ENST00000542550.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.264A>G
  hgvsp: ENST00000417045.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.21A>G
  hgvsp: ENST00000540584.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.264A>G
  hgvsp: ENST00000395805.2:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln88Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

12-30906438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906438
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.156C>T
  hgvsp: ENSP00000443145.1:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-657C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.260C>T
  hgvsp: ENSP00000379150.2:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1079C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.260C>T
  hgvsp: ENSP00000403876.2:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.260C>T
  hgvsp: ENSP00000251071.5:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.17C>T
  hgvsp: ENSP00000438010.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.17C>T
  hgvsp: ENSP00000442295.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1222C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.260C>T
  hgvsp: ENSP00000391479.1:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.17C>T
  hgvsp: ENSP00000443353.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.17C>T
  hgvsp: ENSP00000441005.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.260C>T
  hgvsp: ENSP00000298892.5:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1247C>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro87Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-30906440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906440
    reference: chr 12
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.258G>A
  hgvsp: ENST00000417045.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.15G>A
  hgvsp: ENST00000540436.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.258G>A
  hgvsp: ENST00000395805.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1077G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.258G>A
  hgvsp: ENST00000454014.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.15G>A
  hgvsp: ENST00000542550.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.258G>A
  hgvsp: ENST00000251071.5:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.154G>A
  hgvsp: ENST00000537553.1:c.154G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.15G>A
  hgvsp: ENST00000537108.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1220G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.258G>A
  hgvsp: ENST00000298892.5:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1245G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-659G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.15G>A
  hgvsp: ENST00000540584.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys86Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-30906454-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906454
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.1A>G
  hgvsp: ENSP00000441005.1:p.Met1?
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1063A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.1A>G
  hgvsp: ENSP00000438010.1:p.Met1?
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1206A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.244A>G
  hgvsp: ENSP00000251071.5:p.Met82Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.1A>G
  hgvsp: ENSP00000443353.1:p.Met1?
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-673A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.1A>G
  hgvsp: ENSP00000442295.1:p.Met1?
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.244A>G
  hgvsp: ENSP00000379150.2:p.Met82Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.244A>G
  hgvsp: ENSP00000391479.1:p.Met82Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.244A>G
  hgvsp: ENSP00000403876.2:p.Met82Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1231A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.244A>G
  hgvsp: ENSP00000298892.5:p.Met82Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.140A>G
  hgvsp: ENSP00000443145.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/21259
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-30906457-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906458
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-4dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-4dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.240dupG
  hgvsp: ENSP00000391479.1:p.Asn81GlufsTer39
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-4dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.240dupG
  hgvsp: ENSP00000403876.2:p.Asn81GlufsTer39
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-677dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.240dupG
  hgvsp: ENSP00000298892.5:p.Asn81GlufsTer39
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1227dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.240dupG
  hgvsp: ENSP00000251071.5:p.Asn81GlufsTer39
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-4dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.240dupG
  hgvsp: ENSP00000379150.2:p.Asn81GlufsTer39
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1059dupG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.136dupG
  hgvsp: ENSP00000443145.1:p.Asn47GlufsTer39
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1202dupG
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn81GlufsTer39
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

12-30906460-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906458
    reference: chr 12
allele count: 15
allele frequency: 1.235462721971469e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.236_237delAG
  hgvsp: ENSP00000391479.1:p.Glu79GlyfsTer40
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1055_48+1056delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.236_237delAG
  hgvsp: ENSP00000298892.5:p.Glu79GlyfsTer40
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.236_237delAG
  hgvsp: ENSP00000403876.2:p.Glu79GlyfsTer40
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1198_99+1199delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-8_-7delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.236_237delAG
  hgvsp: ENSP00000251071.5:p.Glu79GlyfsTer40
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-8_-7delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-8_-7delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-8_-7delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.132_133delAG
  hgvsp: ENSP00000443145.1:p.Glu45GlyfsTer40
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.236_237delAG
  hgvsp: ENSP00000379150.2:p.Glu79GlyfsTer40
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1223_-190+1224delAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-681_-680delAG
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu79GlyfsTer40
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: CCT
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-30906460-CCTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906456
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-10_-7delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.130_133delAGAG
  hgvsp: ENSP00000443145.1:p.Glu45GlyfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-10_-7delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.234_237delAGAG
  hgvsp: ENSP00000298892.5:p.Glu79GlyfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1053_48+1056delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-683_-680delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-10_-7delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-10_-7delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1196_99+1199delAGAG
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.234_237delAGAG
  hgvsp: ENSP00000251071.5:p.Glu79GlyfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.234_237delAGAG
  hgvsp: ENSP00000379150.2:p.Glu79GlyfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.234_237delAGAG
  hgvsp: ENSP00000391479.1:p.Glu79GlyfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.234_237delAGAG
  hgvsp: ENSP00000403876.2:p.Glu79GlyfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1221_-190+1224delAGAG
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu79GlyfsTer3
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: CCTCT
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-30906466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906466
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.232A>G
  hgvsp: ENSP00000391479.1:p.Arg78Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.128A>G
  hgvsp: ENSP00000443145.1:p.Arg44Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.232A>G
  hgvsp: ENSP00000298892.5:p.Arg78Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1219A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.232A>G
  hgvsp: ENSP00000403876.2:p.Arg78Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.232A>G
  hgvsp: ENSP00000379150.2:p.Arg78Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-685A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1194A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.232A>G
  hgvsp: ENSP00000251071.5:p.Arg78Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1051A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg78Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-30906471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906471
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-690A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.227A>G
  hgvsp: ENSP00000251071.5:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.227A>G
  hgvsp: ENSP00000298892.5:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.123A>G
  hgvsp: ENSP00000443145.1:p.Glu42Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1189A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1214A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.227A>G
  hgvsp: ENSP00000391479.1:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.227A>G
  hgvsp: ENSP00000403876.2:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.227A>G
  hgvsp: ENSP00000379150.2:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1046A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu76Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-30906473-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906473
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906473
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1212G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.225G>T
  hgvsp: ENSP00000403876.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-1G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1187G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.225G>T
  hgvsp: ENSP00000251071.5:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.121G>T
  hgvsp: ENSP00000443145.1:p.Glu41Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-19G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-19G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.225G>T
  hgvsp: ENSP00000391479.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-19G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-692G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.225G>T
  hgvsp: ENSP00000298892.5:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.225G>T
  hgvsp: ENSP00000379150.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1044G>T
  variant of: http://identifiers.org/hgnc/21259
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-18-1G>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

12-30906486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906486
    reference: chr 12
allele count: 62
allele frequency: 5.106579250815405e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1199C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.212C>T
  hgvsp: ENSP00000403876.2:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-705C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-14C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.212C>T
  hgvsp: ENSP00000379150.2:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1174C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.212C>T
  hgvsp: ENSP00000391479.1:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.212C>T
  hgvsp: ENSP00000298892.5:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.212C>T
  hgvsp: ENSP00000251071.5:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1031C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.108C>T
  hgvsp: ENSP00000443145.1:p.Ser37Leu
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser71Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

12-30906491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906491
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-37A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-710A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-37A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.207A>G
  hgvsp: ENST00000395805.2:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.207A>G
  hgvsp: ENST00000251071.5:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.103A>G
  hgvsp: ENST00000537553.1:c.103A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.207A>G
  hgvsp: ENST00000454014.2:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-37A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1169A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1026A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.207A>G
  hgvsp: ENST00000298892.5:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1194A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.207A>G
  hgvsp: ENST00000417045.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-19A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-37A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

12-30906492-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906490
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-1_-39delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-1_-39delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.204_205delGT
  hgvsp: ENSP00000379150.2:p.Gln68HisfsTer51
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.204_205delGT
  hgvsp: ENSP00000298892.5:p.Gln68HisfsTer51
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.204_205delGT
  hgvsp: ENSP00000391479.1:p.Gln68HisfsTer51
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-1_-39delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.204_205delGT
  hgvsp: ENSP00000403876.2:p.Gln68HisfsTer51
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.204_205delGT
  hgvsp: ENSP00000251071.5:p.Gln68HisfsTer51
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1166_99+1167delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.100_101delGT
  hgvsp: ENSP00000443145.1:p.Gln34HisfsTer51
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-713_-712delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-22_-18-21delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1023_48+1024delGT
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1191_-190+1192delGT
  variant of: http://identifiers.org/hgnc/21259
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-39-1_-39delGT
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: GAC
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-30906494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906494
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1191G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.204G>C
  hgvsp: ENSP00000391479.1:p.Gln68His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.204G>C
  hgvsp: ENSP00000251071.5:p.Gln68His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1166G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.204G>C
  hgvsp: ENSP00000298892.5:p.Gln68His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.100G>C
  hgvsp: ENSP00000443145.1:p.Gln34His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-1G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-713G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.204G>C
  hgvsp: ENSP00000403876.2:p.Gln68His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-1G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-1G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1023G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-22G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.204G>C
  hgvsp: ENSP00000379150.2:p.Gln68His
  variant of: http://identifiers.org/hgnc/21259
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-39-1G>C
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-30906509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906509
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-16C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1151C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-16C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.85C>T
  hgvsp: ENST00000537553.1:c.85C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1176C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-728C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.189C>T
  hgvsp: ENST00000454014.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.189C>T
  hgvsp: ENST00000251071.5:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.189C>T
  hgvsp: ENST00000417045.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+1008C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.189C>T
  hgvsp: ENST00000298892.5:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-16C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-37C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.189C>T
  hgvsp: ENST00000395805.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser63Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

12-30906520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906520
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.178C>T
  hgvsp: ENSP00000379150.2:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+997C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-27C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-48C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.178C>T
  hgvsp: ENSP00000391479.1:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.178C>T
  hgvsp: ENSP00000298892.5:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-27C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.178C>T
  hgvsp: ENSP00000403876.2:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-739C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1165C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.74C>T
  hgvsp: ENSP00000443145.1:p.Leu26Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1140C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-27C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.178C>T
  hgvsp: ENSP00000251071.5:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu60Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-30906527-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906527
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-34G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.67G>T
  hgvsp: ENSP00000443145.1:p.Met23Ile
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-55G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-34G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-34G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-746G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.171G>T
  hgvsp: ENSP00000391479.1:p.Met57Ile
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.171G>T
  hgvsp: ENSP00000251071.5:p.Met57Ile
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.171G>T
  hgvsp: ENSP00000298892.5:p.Met57Ile
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1158G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+990G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1133G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.171G>T
  hgvsp: ENSP00000403876.2:p.Met57Ile
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.171G>T
  hgvsp: ENSP00000379150.2:p.Met57Ile
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met57Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-30906529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906529
    reference: chr 12
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1131A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.65A>G
  hgvsp: ENSP00000443145.1:p.Met23Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.169A>G
  hgvsp: ENSP00000298892.5:p.Met57Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-748A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+988A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.169A>G
  hgvsp: ENSP00000403876.2:p.Met57Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.169A>G
  hgvsp: ENSP00000251071.5:p.Met57Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-57A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.169A>G
  hgvsp: ENSP00000391479.1:p.Met57Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.169A>G
  hgvsp: ENSP00000379150.2:p.Met57Val
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-36A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-36A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1156A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-36A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met57Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

12-30906536-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906536
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1149T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-755T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.162T>A
  hgvsp: ENST00000454014.2:c.162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.58T>A
  hgvsp: ENST00000537553.1:c.58T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.162T>A
  hgvsp: ENST00000251071.5:c.162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.162T>A
  hgvsp: ENST00000395805.2:c.162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+981T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-64T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-43T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-43T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.162T>A
  hgvsp: ENST00000417045.1:c.162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1124T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.162T>A
  hgvsp: ENST00000298892.5:c.162T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-43T>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser54Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-30906542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906542
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.156C>T
  hgvsp: ENST00000251071.5:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+975C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-761C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.52C>T
  hgvsp: ENST00000537553.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-49C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-49C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.156C>T
  hgvsp: ENST00000417045.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.156C>T
  hgvsp: ENST00000395805.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-49C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.156C>T
  hgvsp: ENST00000298892.5:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1143C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.156C>T
  hgvsp: ENST00000454014.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-70C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1118C>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala52Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

12-30906552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906552
    reference: chr 12
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.146C>T
  hgvsp: ENSP00000251071.5:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.146C>T
  hgvsp: ENSP00000391479.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-80C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-771C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1108C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.146C>T
  hgvsp: ENSP00000403876.2:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-59C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.146C>T
  hgvsp: ENSP00000379150.2:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-59C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.146C>T
  hgvsp: ENSP00000298892.5:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.42C>T
  hgvsp: ENSP00000443145.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-59C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1133C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+965C>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro49Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-30906558-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906558
    reference: chr 12
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+959C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1102C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-65C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.140C>A
  hgvsp: ENSP00000391479.1:p.Pro47His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-86C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.140C>A
  hgvsp: ENSP00000379150.2:p.Pro47His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.36C>A
  hgvsp: ENSP00000443145.1:p.Pro13His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-777C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.140C>A
  hgvsp: ENSP00000251071.5:p.Pro47His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-65C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1127C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.140C>A
  hgvsp: ENSP00000298892.5:p.Pro47His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.140C>A
  hgvsp: ENSP00000403876.2:p.Pro47His
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-65C>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro47His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-30906560-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906560
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-67T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-67T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.34T>G
  hgvsp: ENSP00000443145.1:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-779T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.138T>G
  hgvsp: ENSP00000391479.1:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.138T>G
  hgvsp: ENSP00000379150.2:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.138T>G
  hgvsp: ENSP00000403876.2:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+957T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.138T>G
  hgvsp: ENSP00000251071.5:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1100T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.138T>G
  hgvsp: ENSP00000298892.5:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1125T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-88T>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-67T>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe46Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-30906564-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906564
    reference: chr 12
allele count: 9
allele frequency: 7.419131467009595e-5
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+953A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-783A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-71A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.134A>C
  hgvsp: ENSP00000403876.2:p.Asn45Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.134A>C
  hgvsp: ENSP00000298892.5:p.Asn45Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-92A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-71A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.134A>C
  hgvsp: ENSP00000251071.5:p.Asn45Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-71A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.134A>C
  hgvsp: ENSP00000391479.1:p.Asn45Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.30A>C
  hgvsp: ENSP00000443145.1:p.Asn11Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1096A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1121A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.134A>C
  hgvsp: ENSP00000379150.2:p.Asn45Thr
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn45Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

12-30906565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906565
    reference: chr 12
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+952A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1120A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-93A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.29A>G
  hgvsp: ENSP00000443145.1:p.Asn11Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1095A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.133A>G
  hgvsp: ENSP00000403876.2:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-784A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.133A>G
  hgvsp: ENSP00000298892.5:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.133A>G
  hgvsp: ENSP00000391479.1:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-72A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.133A>G
  hgvsp: ENSP00000251071.5:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-72A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.133A>G
  hgvsp: ENSP00000379150.2:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-72A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn45Asp
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: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-30906569-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906569
    reference: chr 12
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.129A>T
  hgvsp: ENST00000298892.5:c.129A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-97A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1116A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.25A>T
  hgvsp: ENST00000537553.1:c.25A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.129A>T
  hgvsp: ENST00000454014.2:c.129A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1091A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+948A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.129A>T
  hgvsp: ENST00000417045.1:c.129A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-788A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-76A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.129A>T
  hgvsp: ENST00000251071.5:c.129A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-76A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-76A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.129A>T
  hgvsp: ENST00000395805.2:c.129A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile43Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-30906571-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906571
    reference: chr 12
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-790A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.127A>C
  hgvsp: ENSP00000298892.5:p.Ile43Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.127A>C
  hgvsp: ENSP00000391479.1:p.Ile43Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-78A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.23A>C
  hgvsp: ENSP00000443145.1:p.Ile9Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.127A>C
  hgvsp: ENSP00000251071.5:p.Ile43Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-78A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.127A>C
  hgvsp: ENSP00000379150.2:p.Ile43Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+946A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.127A>C
  hgvsp: ENSP00000403876.2:p.Ile43Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-99A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1089A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1114A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-78A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile43Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

12-30906579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906579
    reference: chr 12
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.119C>T
  hgvsp: ENSP00000391479.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.119C>T
  hgvsp: ENSP00000298892.5:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.119C>T
  hgvsp: ENSP00000403876.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.119C>T
  hgvsp: ENSP00000379150.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+938C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1106C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1081C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.119C>T
  hgvsp: ENSP00000251071.5:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.15C>T
  hgvsp: ENSP00000443145.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-86C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-798C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-86C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-86C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-107C>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro40Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-30906579-G-GAAACATCGAGAAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906594
    reference: chr 12
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: GAAACATCGAGAAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro40delinsLeuPheLeuAspValSer
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-30906581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906581
    reference: chr 12
allele count: 8
allele frequency: 6.60796590289594e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-88T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.117T>C
  hgvsp: ENST00000395805.2:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.13T>C
  hgvsp: ENST00000537553.1:c.13T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.117T>C
  hgvsp: ENST00000454014.2:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-88T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1104T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.117T>C
  hgvsp: ENST00000417045.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.117T>C
  hgvsp: ENST00000251071.5:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-800T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.117T>C
  hgvsp: ENST00000298892.5:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-109T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1079T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+936T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-88T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser39Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-30906583-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906583
    reference: chr 12
allele count: 6
allele frequency: 4.956793285197363e-5
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+934A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.115A>C
  hgvsp: ENSP00000391479.1:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-802A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1077A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-90A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-111A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.11A>C
  hgvsp: ENSP00000443145.1:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.115A>C
  hgvsp: ENSP00000379150.2:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.115A>C
  hgvsp: ENSP00000251071.5:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1102A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.115A>C
  hgvsp: ENSP00000403876.2:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.115A>C
  hgvsp: ENSP00000298892.5:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-90A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-90A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser39Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-30906585-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906585
    reference: chr 12
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-92C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.113C>G
  hgvsp: ENSP00000403876.2:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.113C>G
  hgvsp: ENSP00000391479.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.113C>G
  hgvsp: ENSP00000251071.5:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1100C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.9C>G
  hgvsp: ENSP00000443145.1:p.Ser4Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-804C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+932C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-113C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-92C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.113C>G
  hgvsp: ENSP00000298892.5:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-92C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1075C>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.113C>G
  hgvsp: ENSP00000379150.2:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser38Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-30906586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906586
    reference: chr 12
allele count: 16
allele frequency: 1.322182924007536e-4
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.112T>C
  hgvsp: ENSP00000298892.5:p.Ser38Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-114T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1099T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-93T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.112T>C
  hgvsp: ENSP00000403876.2:p.Ser38Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.8T>C
  hgvsp: ENSP00000443145.1:p.Ser4Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1074T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.112T>C
  hgvsp: ENSP00000379150.2:p.Ser38Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.112T>C
  hgvsp: ENSP00000391479.1:p.Ser38Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-805T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+931T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.112T>C
  hgvsp: ENSP00000251071.5:p.Ser38Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-93T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-93T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser38Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

12-30906589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906589
    reference: chr 12
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1096C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.109C>T
  hgvsp: ENSP00000298892.5:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.109C>T
  hgvsp: ENSP00000251071.5:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-117C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.109C>T
  hgvsp: ENSP00000379150.2:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1071C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443145
  ensembl transcript: ENST00000537553
  gene symbol: CAPRIN2
  hgvsc: ENST00000537553.1:c.5C>T
  hgvsp: ENSP00000443145.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-96C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.109C>T
  hgvsp: ENSP00000391479.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.109C>T
  hgvsp: ENSP00000403876.2:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-808C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-96C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+928C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-96C>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro37Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

12-30906603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906603
    reference: chr 12
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.95T>C
  hgvsp: ENSP00000298892.5:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-822T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-110T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+914T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.95T>C
  hgvsp: ENSP00000251071.5:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.95T>C
  hgvsp: ENSP00000391479.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.95T>C
  hgvsp: ENSP00000379150.2:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1057T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-110T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.95T>C
  hgvsp: ENSP00000403876.2:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-131T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1082T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-110T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile32Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-30906604-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906604
    reference: chr 12
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.94A>C
  hgvsp: ENSP00000379150.2:p.Ile32Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.94A>C
  hgvsp: ENSP00000298892.5:p.Ile32Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+913A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.94A>C
  hgvsp: ENSP00000391479.1:p.Ile32Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.94A>C
  hgvsp: ENSP00000251071.5:p.Ile32Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-111A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-111A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1081A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.94A>C
  hgvsp: ENSP00000403876.2:p.Ile32Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1056A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-823A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-132A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-111A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile32Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-30906607-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906607
    reference: chr 12
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1053G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-114G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.91G>T
  hgvsp: ENSP00000298892.5:p.Val31Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.91G>T
  hgvsp: ENSP00000391479.1:p.Val31Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.91G>T
  hgvsp: ENSP00000403876.2:p.Val31Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+910G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-135G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.91G>T
  hgvsp: ENSP00000251071.5:p.Val31Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-114G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-826G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1078G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.91G>T
  hgvsp: ENSP00000379150.2:p.Val31Phe
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-114G>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val31Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-30906616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906616
    reference: chr 12
allele count: 3
allele frequency: 2.499333511063716e-5
allele num: 120032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-144T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.82T>C
  hgvsp: ENSP00000379150.2:p.Ser28Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1044T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.82T>C
  hgvsp: ENSP00000298892.5:p.Ser28Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-123T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-123T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.82T>C
  hgvsp: ENSP00000391479.1:p.Ser28Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.82T>C
  hgvsp: ENSP00000251071.5:p.Ser28Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.82T>C
  hgvsp: ENSP00000403876.2:p.Ser28Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-835T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1069T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-123T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+901T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser28Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-30906620-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906620
    reference: chr 12
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.78A>T
  hgvsp: ENSP00000379150.2:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.78A>T
  hgvsp: ENSP00000403876.2:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.78A>T
  hgvsp: ENSP00000391479.1:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-127A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-148A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-127A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.78A>T
  hgvsp: ENSP00000251071.5:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.78A>T
  hgvsp: ENSP00000298892.5:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1040A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-839A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-127A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+897A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1065A>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg26Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-30906621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906621
    reference: chr 12
allele count: 2
allele frequency: 1.671458180116333e-5
allele num: 119656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-128G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1039G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.77G>A
  hgvsp: ENSP00000251071.5:p.Arg26Lys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.77G>A
  hgvsp: ENSP00000379150.2:p.Arg26Lys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-128G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.77G>A
  hgvsp: ENSP00000403876.2:p.Arg26Lys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+896G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-149G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.77G>A
  hgvsp: ENSP00000298892.5:p.Arg26Lys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.77G>A
  hgvsp: ENSP00000391479.1:p.Arg26Lys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-128G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1064G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-840G>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg26Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-30906629-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906629
    reference: chr 12
allele count: 3
allele frequency: 2.523680535693255e-5
allele num: 118874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-848G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+888G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-136G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.69G>T
  hgvsp: ENSP00000403876.2:p.Glu23Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.69G>T
  hgvsp: ENSP00000298892.5:p.Glu23Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.69G>T
  hgvsp: ENSP00000391479.1:p.Glu23Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-136G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.69G>T
  hgvsp: ENSP00000251071.5:p.Glu23Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1031G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1056G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-157G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.69G>T
  hgvsp: ENSP00000379150.2:p.Glu23Asp
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-136G>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu23Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

12-30906634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906634
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906634
    reference: chr 12
allele count: 1
allele frequency: 8.434547908232118e-6
allele num: 118560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1026A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-162A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.64A>G
  hgvsp: ENSP00000379150.2:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+883A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.64A>G
  hgvsp: ENSP00000403876.2:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.64A>G
  hgvsp: ENSP00000391479.1:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.64A>G
  hgvsp: ENSP00000298892.5:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.64A>G
  hgvsp: ENSP00000251071.5:p.Arg22Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-141A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-141A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-141A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-853A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1051A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg22Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-30906639-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906639
    reference: chr 12
allele count: 1
allele frequency: 8.457804015765346e-6
allele num: 118234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-167G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.59G>C
  hgvsp: ENSP00000403876.2:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.59G>C
  hgvsp: ENSP00000379150.2:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.59G>C
  hgvsp: ENSP00000298892.5:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+878G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.59G>C
  hgvsp: ENSP00000251071.5:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-146G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.59G>C
  hgvsp: ENSP00000391479.1:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-146G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-146G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1021G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-858G>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1046G>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser20Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-30906641-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906640
    reference: chr 12
allele count: 3
allele frequency: 2.539188136913024e-5
allele num: 118148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.56delA
  hgvsp: ENSP00000403876.2:p.Lys19ArgfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.56delA
  hgvsp: ENSP00000379150.2:p.Lys19ArgfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.56delA
  hgvsp: ENSP00000298892.5:p.Lys19ArgfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1043delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.56delA
  hgvsp: ENSP00000391479.1:p.Lys19ArgfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-170delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-149delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-149delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.56delA
  hgvsp: ENSP00000251071.5:p.Lys19ArgfsTer3
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1018delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-149delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-861delA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+875delA
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys19ArgfsTer3
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: CT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-30906649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906649
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906649
    reference: chr 12
allele count: 1
allele frequency: 8.526166805927391e-6
allele num: 117286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1036G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.49G>A
  hgvsp: ENSP00000251071.5:p.Val17Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-177G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.49G>A
  hgvsp: ENSP00000391479.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.49G>A
  hgvsp: ENSP00000379150.2:p.Val17Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1011G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-156G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+868G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-156G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.49G>A
  hgvsp: ENSP00000298892.5:p.Val17Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.49G>A
  hgvsp: ENSP00000403876.2:p.Val17Met
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-868G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-156G>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val17Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

12-30906651-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906651
    reference: chr 12
allele count: 2
allele frequency: 1.707387867301815e-5
allele num: 117138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.47C>A
  hgvsp: ENSP00000403876.2:p.Ser16Tyr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-870C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-179C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+1009C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.47C>A
  hgvsp: ENSP00000391479.1:p.Ser16Tyr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.47C>A
  hgvsp: ENSP00000379150.2:p.Ser16Tyr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-158C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1034C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.47C>A
  hgvsp: ENSP00000298892.5:p.Ser16Tyr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-158C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+866C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.47C>A
  hgvsp: ENSP00000251071.5:p.Ser16Tyr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-158C>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser16Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-30906662-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906662
    reference: chr 12
allele count: 1
allele frequency: 8.670169415110372e-6
allele num: 115338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+855C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.36C>A
  hgvsp: ENSP00000379150.2:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1023C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.36C>A
  hgvsp: ENSP00000391479.1:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-169C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.36C>A
  hgvsp: ENSP00000403876.2:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.36C>A
  hgvsp: ENSP00000251071.5:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-169C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-881C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.36C>A
  hgvsp: ENSP00000298892.5:p.Phe12Leu
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-190C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+998C>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-169C>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe12Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-30906667-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906667
    reference: chr 12
allele count: 1
allele frequency: 8.70412923891094e-6
allele num: 114888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.31G>T
  hgvsp: ENSP00000379150.2:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-174G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+850G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.31G>T
  hgvsp: ENSP00000391479.1:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.31G>T
  hgvsp: ENSP00000403876.2:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-886G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-195G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.31G>T
  hgvsp: ENSP00000298892.5:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1018G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-174G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.31G>T
  hgvsp: ENSP00000251071.5:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-174G>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+993G>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly11Cys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-30906671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906671
    reference: chr 12
allele count: 1
allele frequency: 8.753041681984489e-6
allele num: 114246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.27A>G
  hgvsp: ENST00000454014.2:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-178A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.27A>G
  hgvsp: ENST00000395805.2:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.27A>G
  hgvsp: ENST00000251071.5:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1014A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+846A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-178A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-178A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-199A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+989A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.27A>G
  hgvsp: ENST00000417045.1:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.27A>G
  hgvsp: ENST00000298892.5:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-890A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser9Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-30906676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906676
    reference: chr 12
allele count: 1
allele frequency: 8.84564352056612e-6
allele num: 113050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.22G>A
  hgvsp: ENSP00000379150.2:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.22G>A
  hgvsp: ENSP00000403876.2:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.22G>A
  hgvsp: ENSP00000251071.5:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.22G>A
  hgvsp: ENSP00000298892.5:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+841G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.22G>A
  hgvsp: ENSP00000391479.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-204G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1009G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-183G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-895G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-183G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-183G>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+984G>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala8Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

12-30906678-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906678
    reference: chr 12
allele count: 1
allele frequency: 8.847678369195924e-6
allele num: 113024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-185A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-897A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.20A>C
  hgvsp: ENSP00000251071.5:p.Gln7Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+839A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-206A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.20A>C
  hgvsp: ENSP00000379150.2:p.Gln7Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.20A>C
  hgvsp: ENSP00000403876.2:p.Gln7Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.20A>C
  hgvsp: ENSP00000391479.1:p.Gln7Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-185A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-185A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+982A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.20A>C
  hgvsp: ENSP00000298892.5:p.Gln7Pro
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+1007A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln7Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-30906693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906693
    reference: chr 12
allele count: 3
allele frequency: 2.709243940324387e-5
allele num: 110732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-221A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.5A>G
  hgvsp: ENSP00000403876.2:p.Glu2Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-200A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.5A>G
  hgvsp: ENSP00000391479.1:p.Glu2Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-200A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-912A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+992A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.5A>G
  hgvsp: ENSP00000298892.5:p.Glu2Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+967A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.5A>G
  hgvsp: ENSP00000379150.2:p.Glu2Gly
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+824A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-200A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.5A>G
  hgvsp: ENSP00000251071.5:p.Glu2Gly
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

12-30906700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906700
    reference: chr 12
allele count: 1
allele frequency: 9.113776384382633e-6
allele num: 109724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+817A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-207A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+960A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-3A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-3A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-3A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+985A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-919A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-207A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-3A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-207A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-228A>G
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-3A>G
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-30906701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906701
    reference: chr 12
allele count: 1
allele frequency: 9.135590433209699e-6
allele num: 109462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+959T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+984T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-4T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-229T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-920T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-4T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+816T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-208T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-4T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-4T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-208T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-208T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-30906702-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906699
    reference: chr 12
allele count: 1
allele frequency: 9.148796018443973e-6
allele num: 109304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-233_-18-231delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+980_-190+982delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-212_-39-210delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-8_-6delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-212_-39-210delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-8_-6delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-8_-6delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-212_-39-210delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+955_99+957delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+812_48+814delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-924_-922delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-8_-6delAAA
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-8_-6delAAA
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CTTT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-30906706-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906706
    reference: chr 12
allele count: 1
allele frequency: 9.211835366078337e-6
allele num: 108556
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-9A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-234A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-9A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-213A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+954A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-925A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+811A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-213A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-9A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-9A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-9A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+979A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-213A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-30906707-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906707
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906707
    reference: chr 12
allele count: 1
allele frequency: 9.216759755940201e-6
allele num: 108498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-10T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-10T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+953T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-214T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-10T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-926T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-214T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-10T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-10T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+810T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-235T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+978T>A
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-214T>A
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-30906711-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906711
    reference: chr 12
allele count: 1
allele frequency: 9.280053453107891e-6
allele num: 107758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-218A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-14A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-239A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+806A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-14A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+974A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-14A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-930A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-14A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+949A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-218A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-14A>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-218A>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-30906715-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906715
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906715
    reference: chr 12
allele count: 1
allele frequency: 9.372598271692879e-6
allele num: 106694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-934A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+970A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-18A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-18A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-222A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-18A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-222A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-222A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-18A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+802A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+945A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-243A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

12-30906716-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906716
    reference: chr 12
allele count: 1
allele frequency: 9.371544243060372e-6
allele num: 106706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-223T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-935T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+944T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-223T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-244T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-19T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-19T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-19T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-223T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+801T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-19T>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+969T>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-30906718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906718
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906718
    reference: chr 12
allele count: 2
allele frequency: 1.878569281635107e-5
allele num: 106464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-21A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-225A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-225A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-21A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-21A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-225A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-246A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+799A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-937A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-21A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+967A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+942A>C
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-21A>C
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-30906719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30906719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 30906719
    reference: chr 12
allele count: 2
allele frequency: 1.883629377083765e-5
allele num: 106178
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000298892
  ensembl transcript: ENST00000298892
  gene symbol: CAPRIN2
  hgvsc: ENST00000298892.5:c.-22C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000379150
  ensembl transcript: ENST00000395805
  gene symbol: CAPRIN2
  hgvsc: ENST00000395805.2:c.-22C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000403876
  ensembl transcript: ENST00000454014
  gene symbol: CAPRIN2
  hgvsc: ENST00000454014.2:c.-22C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000442295
  ensembl transcript: ENST00000540436
  gene symbol: CAPRIN2
  hgvsc: ENST00000540436.1:c.-39-226C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000309785
  ensembl transcript: ENST00000308433
  gene symbol: CAPRIN2
  hgvsc: ENST00000308433.5:c.-938C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000251071
  ensembl transcript: ENST00000251071
  gene symbol: CAPRIN2
  hgvsc: ENST00000251071.5:c.-22C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000534897
  gene symbol: CAPRIN2
  hgvsc: ENST00000534897.1:n.48+798C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000438010
  ensembl transcript: ENST00000537108
  gene symbol: CAPRIN2
  hgvsc: ENST00000537108.1:c.-18-247C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl transcript: ENST00000546129
  gene symbol: CAPRIN2
  hgvsc: ENST00000546129.1:n.99+941C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000441005
  ensembl transcript: ENST00000540584
  gene symbol: CAPRIN2
  hgvsc: ENST00000540584.1:c.-39-226C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000443353
  ensembl transcript: ENST00000542550
  gene symbol: CAPRIN2
  hgvsc: ENST00000542550.1:c.-39-226C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000444137
  ensembl transcript: ENST00000541765
  gene symbol: CAPRIN2
  hgvsc: ENST00000541765.1:c.-190+966C>T
  variant of: http://identifiers.org/hgnc/21259
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110888
  ensembl protein: ENSP00000391479
  ensembl transcript: ENST00000417045
  gene symbol: CAPRIN2
  hgvsc: ENST00000417045.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/21259
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 846
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4060
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3935
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6122
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1996
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2140
bin: 9.75e1
variant carriers: 37

GenotypeDepth
all individuals: 5826
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5642
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1139
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 8.75e1
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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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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East Asian
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African
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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South Asian
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allele num: 16512
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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 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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele num: 10406
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East Asian
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num of homozygotes: 0

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

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

Latino
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allele 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
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num of homozygotes: 0

African
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allele num: 10406
num of homozygotes: 0

South Asian
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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

Other
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 9.7e-1

DP
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SIO_000300: 3.288987e6

InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

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

African
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allele count: 14
allele frequency: 1.345377666730732e-3
allele num: 10406
num of homozygotes: 0

South Asian
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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

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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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European (Finnish)
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African
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Other
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FS
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MQ
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DP
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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Latino
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num of homozygotes: 0

South Asian
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Other
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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: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.288405e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.27e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 2.983e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.288348e6

FS
type: SiteQuality
SIO_000300: 1.0513e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.277e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 56

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42037
bin: 9.75e1
variant carriers: 62

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.641594246329039e-4
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.360749924402782e-3
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.447e0

VQSLOD
type: SiteQuality
SIO_000300: 6.35e0

QD
type: SiteQuality
SIO_000300: 1.371e1

DP
type: SiteQuality
SIO_000300: 3.292496e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1231
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 3.287005e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 8.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

FS
type: SiteQuality
SIO_000300: 7.636e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

GenotypeDepth
all individuals: 5072
bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 3.287084e6

MQ
type: SiteQuality
SIO_000300: 6.005e1

InbreedingCoeff
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SIO_000300: 1.476e-1

QD
type: SiteQuality
SIO_000300: 2.261e1

MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -4.87e-1

FS
type: SiteQuality
SIO_000300: 1.969e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2952
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 1.266e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.287071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

ReadPosRankSum
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SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 3.286875e6

QD
type: SiteQuality
SIO_000300: 1.578e1

GenotypeDepth
all individuals: 4072
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Latino
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allele num: 11578
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Other
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African
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South Asian
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European (Finnish)
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VQSLOD
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BaseQRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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Other
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QD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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QD
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variant carriers: 0

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

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

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

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

East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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African
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65660
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South Asian
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European (Finnish)
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Latino
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African
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Other
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East Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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FS
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DP
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MQ
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GenotypeDepth
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variant carriers: 0

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

African
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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 frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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South Asian
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MQ
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SIO_000300: 5.931e1

BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.1e-3

MQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16158
num of homozygotes: 0

African
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allele count: 0
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.959e1

DP
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InbreedingCoeff
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FS
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SIO_000300: 4.182e0

QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.629058140970251e-5
allele num: 64808
num of homozygotes: 0

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

European (Finnish)
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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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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.2e-3

MQ
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DP
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BaseQRankSum
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SIO_000300: -3.4e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Other
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Latino
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African
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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Other
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East Asian
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South Asian
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European (Finnish)
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African
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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African
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allele num: 9312
num of homozygotes: 0

Other
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62684
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Other
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South Asian
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European (Finnish)
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.595405232929164e-5
allele num: 62680
num of homozygotes: 0

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

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

Latino
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Other
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East Asian
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South Asian
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African
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European (Non-Finnish)
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MQ
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.791981712678038e-5
allele num: 11374
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
allele num: 8872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61240
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.541e0

DP
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QD
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ClippingRankSum
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SIO_000300: -6.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.64e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.134044000907235e-4
allele num: 8818
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.0e0

InbreedingCoeff
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SIO_000300: -1.9e-3

MQRankSum
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SIO_000300: -3.41e-1

VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.584e0

MQ
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SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 3.135603e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 1184
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639881928501148e-5
allele num: 60980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
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SIO_000300: -2.67e-1

InbreedingCoeff
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SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

DP
type: SiteQuality
SIO_000300: 3.134501e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.125911e6

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
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QD
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SIO_000300: 1.489e1

MQ
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SIO_000300: 5.948e1

VQSLOD
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SIO_000300: -3.328e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 41958
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.41e0

FS
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MQ
type: SiteQuality
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DP
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SIO_000300: 3.101184e6

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656397005234214e-5
allele num: 60372
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 780
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

VQSLOD
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

QD
type: SiteQuality
SIO_000300: 7.38e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3918
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189909566872918e-4
allele num: 8404
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658704883227176e-5
allele num: 60288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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SIO_000300: 8.69e0

MQ
type: SiteQuality
SIO_000300: 5.951e1