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. 2018 Nov 23;9(92):36413–36429. doi: 10.18632/oncotarget.26326

Table 1. Mutations identified in SP-2509 drug resistant A673 cells.

Rank Position Gene Loc in gene Effect HGVS Population (%)
1 17q12 MRPL45 mitochondrial ribosomal protein L45 CS Stopgain p.Glu53* 88.4%
2 15q13.1 OCA2 OCA2 melanosomal transmembrane protein splice_site c.1843-1G>T 45.2%
3 9q34.11 HMCN2 hemicentin 2 CS NS-SNV p.Ala352Glu 45.1%
4 1q25.1 SERPINC1 serpin family C member 1 CS NS-SNV p.Ser169Ala 44.3%
5 15q11.2 MAGEL2 MAGE family member CS NS-SNV p.Thr1158Pro 42.9%
6 1p34.3 GJB4 gap junction protein beta 4 CS NS-SNV p.Asp118Glu 42.2%
7 1p36.12 ALPL alkaline phosphatase, liver/bone/kidney CS NS-SNV p.Ala503Thr 39.9%
8 1p36.12 E2F2 E2F transcription factor 2 EISR c.738-9C>A 39.4%
9 5p15.31 SEMA5A semaphorin 5A CS NS-SNV p.Asp720Glu 39.1%
10 6p12.3 PKHD1 PKHD1, fibrocystin/polyductin CS NS-SNV p.Gly3809Cys 39.0%
11 19q13.12 ZNF781 zinc finger protein 781 CS Startloss 38.7%
12 16p11.2 APOBR apolipoprotein B receptor CS NS-SNV p.Leu409Arg 38.7%
13 8p21.3 SH2D4A SH2 domain containing 4A CS NS-SNV p.Pro89Thr 38.4%
14 17q25.3 CSNK1D casein kinase 1 delta CS NS-SNV p.Arg279Cys 38.3%
15 1p13.3 LAMTOR5 late endosomal/lysosomal adaptor, CS NS-SNV p.Ala135Asp 36.5%
16 11q23.3 CBL Cbl proto-oncogene EISR c.444-9C>A 36.0%
17 6p21.1 MRPS10 mitochondrial ribosomal protein S10 CS Stopgain p.Glu146* 35.6%
18 12q24.13 TPCN1 two pore segment channel 1 CS NS-SNV p.Gly779Val 31.4%
19 Xq11.2 MTMR8 myotubularin related protein 8 CS NS-SNV Arg541Leu 29.9%
20 6p21.32 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 CS NS-SNV p.Ser119Tyr 28.3%
21 11p15.5 IRF7 interferon regulatory factor 7 CS NS-SNV p.Arg109Leu 27.7%
22 Xq12 HEPH hephaestin CS NS-SNV p.Tyr789Cys 11.1%
23 14q32.33 AHNAK2 AHNAK nucleoprotein 2 CS NS-SNV p.Lys89Asn 11.0%

Abbreviations: CS: Coding sequence, EISR: Extended intronic splice region, NS-SNV: Non-synonymous single nucleotide variant.