variants_part_braf_v600_multiple.json•5.58 kB
[
{
"_id": "chr7:g.140453136A>G",
"_score": 19.419012,
"cadd": {
"_license": "http://bit.ly/2TIuab9",
"phred": 21.2
},
"chrom": "7",
"clinvar": {
"_license": "http://bit.ly/2SQdcI0",
"rcv": {
"clinical_significance": "Likely pathogenic"
},
"variant_id": 376288
},
"cosmic": {
"_license": "http://bit.ly/2VMkY7R",
"cosmic_id": "COSM18443"
},
"dbnsfp": {
"_license": "http://bit.ly/2VLnQBz",
"genename": ["BRAF", "BRAF", "BRAF", "BRAF"],
"hgvsc": ["c.620T>C", "c.1919T>C", "c.1799T>C"],
"hgvsp": ["p.V600A", "p.Val600Ala", "p.Val640Ala", "p.Val207Ala"],
"polyphen2": {
"hdiv": {
"pred": "B",
"score": 0.207
}
}
},
"dbsnp": {
"_license": "http://bit.ly/2AqoLOc",
"rsid": "rs113488022"
},
"vcf": {
"alt": "G",
"position": "140453136",
"ref": "A"
}
},
{
"_id": "chr7:g.140453136A>T",
"_score": 18.693962,
"cadd": {
"_license": "http://bit.ly/2TIuab9",
"phred": 32
},
"chrom": "7",
"civic": {
"_license": "http://bit.ly/2FqS871",
"id": 12,
"openCravatUrl": "https://run.opencravat.org/webapps/variantreport/index.html?alt_base=T&chrom=chr7&pos=140753336&ref_base=A"
},
"clinvar": {
"_license": "http://bit.ly/2SQdcI0",
"rcv": [
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "not provided"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Likely pathogenic"
}
],
"variant_id": 13961
},
"cosmic": {
"_license": "http://bit.ly/2VMkY7R",
"cosmic_id": "COSM476"
},
"dbnsfp": {
"_license": "http://bit.ly/2VLnQBz",
"genename": ["BRAF", "BRAF", "BRAF", "BRAF"],
"hgvsc": ["c.620T>A", "c.1919T>A", "c.1799T>A"],
"hgvsp": ["p.Val640Glu", "p.Val207Glu", "p.Val600Glu", "p.V600E"],
"polyphen2": {
"hdiv": {
"pred": "D",
"score": 0.971
}
}
},
"dbsnp": {
"_license": "http://bit.ly/2AqoLOc",
"rsid": "rs113488022"
},
"exac": {
"_license": "http://bit.ly/2H9c4hg",
"af": 1.647e-5
},
"gnomad_exome": {
"_license": "http://bit.ly/2I1cl1I",
"af": {
"af": 3.97994e-6
}
},
"vcf": {
"alt": "T",
"position": "140453136",
"ref": "A"
}
},
{
"_id": "chr7:g.140453136A>C",
"_score": 18.476965,
"cadd": {
"_license": "http://bit.ly/2TIuab9",
"phred": 26.0
},
"chrom": "7",
"clinvar": {
"_license": "http://bit.ly/2SQdcI0",
"rcv": [
{
"clinical_significance": "not provided"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Pathogenic"
},
{
"clinical_significance": "Uncertain significance"
}
],
"variant_id": 40389
},
"cosmic": {
"_license": "http://bit.ly/2VMkY7R",
"cosmic_id": "COSM6137"
},
"dbnsfp": {
"_license": "http://bit.ly/2VLnQBz",
"genename": ["BRAF", "BRAF", "BRAF", "BRAF"],
"hgvsc": ["c.1919T>G", "c.1799T>G", "c.620T>G"],
"hgvsp": ["p.Val640Gly", "p.Val207Gly", "p.Val600Gly", "p.V600G"],
"polyphen2": {
"hdiv": {
"pred": "P",
"score": 0.822
}
}
},
"dbsnp": {
"_license": "http://bit.ly/2AqoLOc",
"rsid": "rs113488022"
},
"vcf": {
"alt": "C",
"position": "140453136",
"ref": "A"
}
}
]