From: Polarity gene alterations in pure invasive micropapillary carcinomas of the breast
Gene | Cases,n | (%) | Chr | Mutation | WH seq | MiSeq | Sanger seq | Effect of the mutation | Type of mutation | PolyPhen-2 score | GERP score | RNA-seq expression |
---|---|---|---|---|---|---|---|---|---|---|---|---|
TP53 | 5 | (10) | 17 | GAA>CAA/p.E286Q | X | NA | X | Missense | Transversion | 1.00 | Â | Yes |
 |  |  |  | ATG>ACG/p.M246T | X | NA | X | Missense | Transition | 1.00 |  | Yes |
 |  |  |  | GAG>AAG/p.E68K | NA | NA | X | Missense | Transition | 0.09 |  | ND |
 |  |  |  | TAC>TGC/p.Y234C | NA | NA | X | Missense | Transition | 0.97 |  | ND |
 |  |  |  | c.742_743insA | NA | NA | X | Frame shift | Ins/del |  | 5.91 | ND |
DNAH9 | 4 | (8) | 17 | A>G | X | X | X | Splice intron | Transition | Â | 4.05 | No coverage |
 |  |  |  | CGG>CAG/p.R2605Q | X | X | X | Missense | Transition | 1.00 |  | No coverage |
 |  |  |  | ATG>ATA/p.M3430I | NA | X | X | Missense | Transition | 0.00 |  | ND |
 |  |  |  | CAG>TAG/p.Q3082* | NA | X | X | Nonsense | Transition |  | 4.05 | ND |
FBXO38 | 2 | (4) | 5 | TAT>TGT/p.Y1058C | X | X | X | Missense | Transition | 1.00 | Â | Yes |
 |  |  |  | GAA>CAA/p.E20Q | NA | X | X | Missense | Transversion | 0.96 |  | ND |
THSD4 | 2 | (4) | 15 | GAG>AAG/p.E476K | X | X | X | Missense | Transition | 1.00 | Â | Yes |
 |  |  |  | GAG>AAG/p.E652K | NA | X | X | Missense | Transition | 0.96 |  | ND |
TRMT5 | 2 | (4) | 14 | TTT>CTT/p.F303L | X | X | X | Missense | Transition | 0.04 | Â | Yes |
 |  |  |  | GAG>CAG/p.E152Q | NA | X | X | Missense | Transversion | 0.03 |  | ND |
PIK3CA | 2 | (4) | 3 | CTC>GTC/p.L540V | NA | NA | X | Missense | Transversion | 0.99 | Â | ND |
 |  |  |  | CAG>CCG/p.Q546P | NA | NA | X | Missense | Transversion | 1.00 |  | ND |
FOXO3 | 1 | (2) | 6 | GCA>ACA/p.A267T | NA | NA | X | Missense | Transition | 0.97 | Â | ND |
 |  |  |  | CCT>TCT/p.P292S | NA | NA | X | Missense | Transition | 0.34 |  | ND |
 |  |  |  | TTG>GTG/p.L528V | NA | NA | X | Missense | Transversion | 0.03 |  | ND |
BBS12 | 1 | (2) | 4 | CGC>TGC/p.R674C | X | X | X | Missense | Transition | 1.00 | Â | Yes |
BBS9 | 1 | (2) | 7 | CCA>TCA/p.P77S | X | X | X | Missense | Transition | 1.00 | Â | No coverage |
CASP8AP2 | 1 | (2) | 6 | GAT>AAT/p.D1420N | X | X | X | Missense | Transition | 1.00 | Â | No coverage |
EIF2B5 | 1 | (2) | 3 | GCA>ACA/p.A406T | X | * | X | Missense | Transition | 0.05 | Â | Yes |
FMN2 | 1 | (2) | 1 | GCT>CCT/p.A659P | X | * | * | Missense | Transversion | 0.74 | Â | No coverage |
HSP90B1 | 1 | (2) | 12 | ACG>ATG/p.T468M | X | Â | X | Missense | Transition | 0.98 | Â | Yes |
IKBKE | 1 | (2) | 1 | GAC>TAC/p.D571Y | X | * | X | Missense | Transversion | 0.68 | Â | Yes |
PCF11 | 1 | (2) | 11 | AAT>AGT/p.N167S | X | X | X | Missense | Transition | 0.02 | Â | Yes |
PLCL1 | 1 | (2) | 2 | AAG>AAT/p.K279N | X | X | X | Missense | Transversion | 0.98 | Â | No coverage |
PTPN21 | 1 | (2) | 14 | CGA>CTA/p.R864L | X | X | X | Missense | Transversion | 1.00 | Â | Yes |
SEC63 | 1 | (2) | 6 | CGC>TGC/p.R217C | NA | X | X | Missense | Transition | 1.00 | Â | ND |
SPTLC3 | 1 | (2) | 20 | G>A | X | X | X | Splice intron | Transition | Â | 5.91 | No coverage |
ST7L | 1 | (2) | 1 | GAT>GCT/p.D339A | X | X | X | Missense | Transversion | 1.00 | Â | Yes |
SYNRG | 1 | (2) | 17 | ATG>ATA/pM970I | X | * | X | Missense | Transition | 0.45 | Â | Yes |
UBR4 | 1 | (2) | 1 | AAC>AAA/p.N3400K | X | X | X | Missense | Transversion | 0.98 | Â | Yes |
ZFYVE26 | 1 | (2) | 14 | CAA>CCA/p.Q1582P | X | X | X | Missense | Transversion | 0.00 | Â | Yes |