Table 4.
Coding mutations in the HPV-negative tumor.
Chr | Position | Reference allele | Tumor allele | Zygosity | dbSNP ID | Region | Type | Gene | Transcript name | Exon | CDS position | Protein change | Stansky* | Agrawal** |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 73679256 | C | G | Homo | Exonic | Nonsynonymous | ALMS1 | NM_015120 | 8 | c.C5599G | p.L1867V | Yes | ||
10 | 37451586 | G | A | Hetero | rs12766884 | Exonic | Nonsynonymous | ANKRD30A | NM_052997 | 16 | c.G1742A | p.G581E | Yes | |
9 | 33385733 | C | T | Hetero | Exonic | Nonsynonymous | AQP7 | NM_001170 | 7 | c.G657A | p.M219I | |||
17 | 42271663 | G | C | Homo | Exonic | Nonsynonymous | ATXN7L3 | NM_001098833 | 12 | c.C1012G | p.P338A | |||
6 | 136599913 | A | T | Hetero | Exonic | Nonsynonymous | BCLAF1 | NM_001077441 | 4 | c.T106A | p.S36T | |||
1 | 26646726 | A | G | Hetero | rs1071849 | Exonic | Nonsynonymous | CD52 | NM_001803 | 2 | c.A119G | p.N40S | ||
1 | 26646730 | A | G | Homo | rs17645 | Exonic | Nonsynonymous | CD52 | NM_001803 | 2 | c.A123G | p.I41M | ||
19 | 42213948 | C | G | Hetero | Exonic | Nonsynonymous | CEACAM5 | NM_004363 | 2 | c.C414G | p.F138L | |||
12 | 31242362 | A | G | Hetero | rs3950588 | Exonic | Nonsynonymous | DDX11 | NM_030653 | 8 | c.A818G | p.K273R | Yes | |
15 | 83657820 | G | C | Hetero | Exonic | Stoploss | FAM103A1 | NM_031452 | 3 | c.G50C | p.X17S | |||
6 | 76023130 | T | G | Homo | Exonic | Nonsynonymous | FILIP1 | NM_015687 | 5 | c.A2418C | p.Q806H, | Yes | ||
1 | 152191709 | C | G | Hetero | rs6662450 | Exonic | Nonsynonymous | HRNR | NM_001009931 | 3 | c.G2396C | p.S799T | Yes | |
9 | 21202136 | A | G | Hetero | rs145794215 | Exonic | Nonsynonymous | IFNA7 | NM_021057 | 1 | c.T29C | p.V10A | ||
7 | 100635103 | A | C | Hetero | Exonic | Nonsynonymous | MUC12 | NM_001164462 | 2 | c.A1259C | p.E420A | |||
17 | 10404435 | T | G | Hetero | Exonic | Nonsynonymous | MYH1 | NM_005963 | 27 | c.A3730C | p.K1244Q | Yes | Yes | |
18 | 47364086 | C | T | Hetero | Exonic | Nonsynonymous | MYO5B | NM_001080467 | 37 | c.G4939A | p.D1647N | Yes | ||
12 | 57106659 | C | G | Hetero | Exonic | Nonsynonymous | NACA | NM_001113203 | 10 | c.G2674C | p.E892Q | Yes | ||
1 | 21795333 | C | G | Hetero | Exonic | Nonsynonymous | NBPF3 | NM_032264 | 3 | c.C286G | p.Q96E | Yes | Yes | |
10 | 115370274 | T | C | Homo | rs10749138 | Exonic | Nonsynonymous | NRAP | NM_006175 | 30 | c.A3442G | p.I1148V | Yes | Yes |
11 | 48346916 | G | C | Homo | rs77069283 | Exonic | Nonsynonymous | OR4C3 | NM_001004702 | 1 | c.G424C | p.V142L | Yes | |
11 | 4608046 | T | A | Hetero | Exonic | Nonsynonymous | OR52I2 | NM_001005170 | 1 | c.T4A | p.C2S | |||
11 | 56128081 | A | G | Hetero | rs10896290 | Exonic | Nonsynonymous | OR8J1 | NM_001005205 | 1 | c.A359G | p.Y120C | Yes | |
11 | 56143823 | G | A | Homo | rs77614949 | Exonic | Nonsynonymous | OR8U1, OR8U8 | NM_001005204 | 1 | c.G724A | p.G242S | ||
X | 82764042 | G | C | Hetero | rs5921979 | Exonic | Nonsynonymous | POU3F4 | NM_000307 | 1 | c.G710C | p.G237A | Yes | |
19 | 43709656 | C | G | Homo | rs11883278 | Exonic | Nonsynonymous | PSG4 | NM_213633 | 1 | c.G33C | p.Q11H | Yes | |
14 | 21511497 | C | T | Homo | rs1243469 | Exonic | Nonsynonymous | RNASE7 | NM_032572 | 2 | c.C346T | p.H116Y | ||
1 | 153004853 | C | T | Homo | rs3795382 | Exonic | Nonsynonymous | SPRR1B | NM_003125 | 2 | c.C32T | p.T11I | ||
6 | 33410273 | T | A | Homo | Splicing | NA | SYNGAP1 | NM_006772 | 14 | c.2336+2T>A | ||||
12 | 11174327 | C | T | Hetero | rs72475481 | Exonic | Nonsynonymous | TAS2R19 | NM_176888 | 1 | c.G844A | p.G282R | ||
12 | 11183676 | C | T | Hetero | rs73049072 | Exonic | Nonsynonymous | TAS2R31 | NM_176885 | 1 | c.G259A | p.V87I | ||
7 | 35244086 | A | T | Hetero | Exonic | Nonsynonymous | TBX20 | NM_001077653 | 7 | c.T999A | p.N333K | |||
21 | 10910347 | A | G | Hetero | rs150482 | Exonic | Nonsynonymous | TPTE | NM_199261 | 22 | c.T1409C | p.L470P | ||
7 | 99669149 | C | T | Hetero | Exonic | Nonsynonymous | ZNF3 | NM_032924 | 6 | c.G958A | p.A320T | |||
19 | 57839150 | A | G | Homo | rs8100491 | Exonic | Nonsynonymous | ZNF543 | NM_213598 | 4 | c.A320G | p.Q107R | Yes | |
12 | 124497119 | T | A | Hetero | Exonic | Nonsynonymous | ZNF664 | NM_001204298 | 5 | c.T428A | p.F143Y | |||
19 | 12501852 | C | T | Hetero | Exonic | Nonsynonymous | ZNF799 | NM_001080821 | 4 | c.G1360A | p.G454R | Yes |