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Table 1 Somatic mutations detected in tumor

From: Translocational renal cell carcinoma (t(6;11)(p21;q12) with transcription factor EB (TFEB) amplification and an integrated precision approach: a case report

Variant ID Vartype Gene Consequence Coding change Depth tumor AF tumor Depth normal
chr1_200567369_G_A snv KIF14 missense_variant p.H849Y 225 0.227 99
chr1_235909689_G_GCC INdel LYST frameshift_variant&feature_elongation p.A2640fs 575 0.177 255
chr1_43239249_C_T snv C1orf50 stop_gained p.R71X 330 0.352 296
chr10_124897147_G_T snv HMX3 missense_variant p.G325V 252 0.286 189
chr10_48388199_C_T snv RBP3 missense_variant p.M893I 253 0.229 149
chr12_31238059_A_G snv DDX11 missense_variant p.R213G 32 0.188 16
chr14_57858330_G_A snv NAA30 missense_variant p.E219K 165 0.212 94
chr14_57858331_A_T snv NAA30 missense_variant p.E219V 165 0.218 94
chr17_28887148_T_A snv TBC1D29 missense_variant p.L9Q 140 0.05 89
chr17_7256853_G_A snv KCTD11 missense_variant p.E198K 167 0.192 132
chr18_14542791_C_T snv POTEC missense_variant p.A119T 84 0.083 47
chr19_35842950_G_A snv FFAR1 missense_variant p.G166S 564 0.278 358
chr2_202492837_T_A snv TMEM237 missense_variant p.N302I 191 0.215 90
chr20_23065590_C_G snv CD93 missense_variant p.G414R 410 0.21 230
chr21_45535623_C_A snv PWP2 missense_variant p.P220T 130 0.208 96
chr3_108348015_A_G snv DZIP3 missense_variant p.T230A 114 0.272 45
chr4_110885598_C_T snv EGF stop_gained p.R494X 402 0.274 260
chr4_155298451_T_A snv DCHS2 missense_variant p.E127V 225 0.164 113
chr5_178771091_C_A snv ADAMTS2 missense_variant p.V71L 333 0.258 194
chr5_65105904_TC_T inDEL NLN frameshift_variant&feature_truncation p.Q586fs 333 0.168 200
chr6_136589425_G_T snv BCLAF1 missense_variant p.P758T 123 0.089 35
chr6_33406615_C_G snv SYNGAP1 missense_variant p.T532R 345 0.22 241
chr6_91271355_C_A snv MAP3K7 missense_variant p.G110V 558 0.246 305
chr7_143096972_G_T snv EPHA1 missense_variant p.R203S 222 0.212 153
chr9_139571036_C_T snv AGPAT2 splice_donor_variant exon5:c.588 + 1G > A 83 0.337 103
  1. snv single nucleotide variant; INdel insertion of the deletion of the bases