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. 2017 Jun 21;7:3947. doi: 10.1038/s41598-017-04296-2

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.