Table 3.
The NGS results of our cohort.
ID | Sex | chr:posi | ref > alt | type | Gene name | Amino acid change | Codon change | Effect | Impact | Transcript Id | Cosmic id | Cosmic allele |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 11:92087139 | C > T | SNP | FAT3 | L621F | CTT/TTT | missense_variant | MODERATE | ENST00000298047 | COSMIC1206618 | p.L621F |
7:116339746 | C > T | SNP | MET | S203F | TCT/TTT | missense_variant | MODERATE | ENST00000318493 | COSMIC282765 | p.S203Y | ||
17:16049843 | C > T | SNP | NCOR1 | R310H | CGT/CAT | missense_variant | MODERATE | ENST00000268712 | COSMIC1216870 | p.R310H | ||
14:81534648 | A > T | SNP | TSHR | Y98F | TAC/TTC | missense_variant | MODERATE | ENST00000541158 | COSMIC553821 | p.Y98C | ||
5:112174682 | CAAG > C | INDEL | APC | QE1131Q | CAAGAA/CAA | inframe_deletion | MODERATE | ENST00000508376 | COSMIC13868 | p.Q1131* | ||
2 | F | 7:81336664 | C > G | SNP | HGF | G520R | GGA/CGA | missense_variant | MODERATE | ENST00000222390 | COSMIC79203 | p.G520* |
17:7577551 | C > A | SNP | TP53 | G244C | GGC/TGC | missense_variant | MODERATE | ENST00000269305 | COSMIC10941 | p.G244S | ||
3 | M | 3:178952088 | A > G | SNP | PIK3CA | H1048R | CAT/CGT | missense_variant | MODERATE | ENST00000263967 | COSMIC36289 | p.H1048R |
3:178952085 | A > G | SNP | PIK3CA | H1047R | CAT/CGT | missense_variant | MODERATE | ENST00000263967 | COSMIC94987 | p.H1047L | ||
17:7578416 | C > A | SNP | TP53 | V172F | GTT/TTT | missense_variant | MODERATE | ENST00000269305 | COSMIC43955 | p.V172I | ||
4 | F | 17:7577085 | C > T | SNP | TP53 | E285K | GAG/AAG | missense_variant | MODERATE | ENST00000269305 | COSMIC44388 | p.E285* |
5 | M | 7:55242464 | AGGAATTAA-GAGAAGC > A | INDEL | EGFR | KELREA745K | AAGGAATTAA-GAGAAGCA/AAA | disruptive_inframe_deletion | MODERATE | ENST00000275493 | COSMIC51504 | p.K745_E746insIPVAIK |
17:7579419 | A > AG | INDEL | TP53 | P89P | CCC/CCCC | frameshift_variant | HIGH | ENST00000269305 | COSMIC1735386 | p.S90T | ||
6 | M | 7:140481402 | C > G | SNP | BRAF | G469A | GGA/GCA | missense_variant | MODERATE | ENST00000288602 | COSMIC460 | p.G469A |
7 | M | 17:59876521 | T > C | SNP | BRIP1 | N427S | AAC/AGC | missense_variant | MODERATE | ENST00000259008 | COSMIC3742356 | p.N427S |
12:49426753 | AGTTGCT > A | INDEL | KMT2D | QQL3910L | CAGCAACTT/CTT | disruptive_inframe_deletion | MODERATE | ENST00000301067 | COSMIC1190862 | p.Q3910_L3912 > H |
chr: chromosome, posi: position, ref: reference genome, alt: gene alteration.