TABLE 2.
Position | Gene | Consequence | Function | AA change | Frequency (%)* | Tumor type |
G207A | D-Loop | Regulatory | LPS | – | 1.1 | Prostate, thyroid |
T3394C | ND1 | Coding | Missense | Y/H | 1.1 | Leukemia, colorectal, lung |
T4823C | ND2 | Coding | Synonym | V | 1.1 | Bladder, lung, head, and neck |
T5567C | TW | Transcript change | tRNA | – | 1.1 | Endometrial, ovary |
A5581G | Intergenic | Non-coding | Non-coding | – | 2.2 | Thyroid |
C6371T | CO1 | Coding | Synonym | S | 2.2 | Colorectal |
T7389C | CO1 | Coding | Missense | Y/H | 1.1 | Thyroid |
G10290A | ND3 | Coding | Missense | A/T | 1.1 | Endometrial |
T10463C | TR | Transcript change | tRNA | – | 2.2 | Endometrial, thyroid, colorectal |
G12630A | ND5 | Coding | Synonym | W | 1.1 | Colorectal |
G13333A | ND5 | Coding | Missense | A/T | 1.1 | Breast |
A13966G | ND5 | Coding | Missense | T/A | 1.1 | Prostate |
T14470C | ND6 | Coding | Synonym | G | 1.1 | Colorectal |
T15831C | CYB | Coding | Missense | I/T | 1.1 | Endometrial |
A15836C | CYB | Coding | Missense | I/L | 1.1 | Breast |
G15928A | TT | Transcript change | tRNA | – | 2.2 | Colorectal |
G15995A | TP | Transcript change | tRNA | – | 1.1 | Endometrial |
C16134T | D-Loop | Non-coding | Non-coding | – | 1.1 | Glioblastoma |
A16162G | D-Loop | Regulatory | TAS | – | 1.1 | Ovary |
A16163G | D-Loop | Regulatory | TAS | – | 1.1 | Ovary |
C16248T | D-Loop | Non-coding | Non-coding | – | 1.1 | Ovary |
C16261T | D-Loop | Non-coding | Non-coding | – | 1.1 | Nasopharyngeal, ovary |
C16294T | D-Loop | Non-coding | Non-coding | – | 2.2 | Ovary |
C16296T | D-Loop | Non-coding | Non-coding | – | 1.1 | Ovary |
C16527T | D-Loop | Non-coding | Non-coding | – | 1.1 | Ovary, pancreatic |
AA, amino acid; LPS, L-strand promoter sequence; TAS, termination associated sequence. *Frequency corresponding to population analyzed in this study.