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Table 2 Two novel variants that have not been reported in the dbSNP and COSMIC database

From: A clear cancer cell line (150057) derived from human endometrial carcinoma harbors two novel mutations

 

Chr

POS

Ref Allele

Variant

Genotype

Variant type

Allele source

Gene.refgene

ExonicFunc.refgene

AA ref

AA variant

1

chr4

1,803,663

G

A

het

SNP

Novel

FGFR3

nonsynonymous SNV

A

T

2

chr1

27,100,192

C

T

het

SNP

Novel

ARID1A

stop gain

Q

X

  1. chr chromosome, POS position, Ref Reference, het heterogenous, SNP Single Nucleotide Polymorphism, dbSNP Single Nucleotide Polymorphism Database, COSMIC the Catalogue Of Somatic Mutations In Cancer, SNV single nucleotide variant, AA amino acid