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Somatic Mutations

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Somatic Mutations SOMATIC MUTATIONS Transcript Amino Acid Mutation Sample ID Gene Symbol Gene Description Nucleotide (genomic) Consequence Mut % Accession (protein) Type Nonsynonymous PGDX11T ACSBG2 acyl-CoA synthetase bubblegum family member 2 CCDS12159.1 chr19_6141628_6141628_C_A 654A>D Substitution 46% coding Nonsynonymous PGDX11T ATR ataxia telangiectasia and Rad3 related CCDS3124.1 chr3_143721232_143721232_G_A 1451R>W Substitution 32% coding Nonsynonymous PGDX11T C1orf183 chromosome 1 open reading frame 183 CCDS841.1 chr1_112071336_112071336_C_T 224R>Q Substitution 22% coding PGDX11T CMYA5 cardiomyopathy associated 5 NM_153610 chr5_79063455_79063455_C_A 1037C>X Substitution Nonsense 34% Nonsynonymous PGDX11T CNR1 cannabinoid receptor 1 (brain) CCDS5015.1 chr6_88911646_88911646_C_T 23V>M Substitution 35% coding Nonsynonymous PGDX11T COL4A4 collagen; type IV; alpha 4 CCDS42828.1 chr2_227681807_227681807_G_A 227R>C Substitution 20% coding Nonsynonymous PGDX11T CYBASC3 cytochrome b; ascorbate dependent 3 CCDS8004.1 chr11_60877136_60877136_G_A 149R>C Substitution 34% coding Nonsynonymous PGDX11T DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 CCDS30999.1 chr1_204888091_204888091_G_A 309V>I Substitution 44% coding Nonsynonymous PGDX11T ELMO1 engulfment and cell motility 1 CCDS5449.1 chr7_37239295_37239295_G_A 160T>M Substitution 24% coding Nonsynonymous PGDX11T FAM83H family with sequence similarity 83; member H CCDS6410.2 chr8_144884473_144884473_C_A 90G>C Substitution 53% coding Nonsynonymous PGDX11T KPTN kaptin (actin binding protein) CCDS42583.1 chr19_52675861_52675861_G_C 189N>K Substitution 28% coding Nonsynonymous PGDX11T KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25289551_25289551_C_A 12G>V Substitution 50% coding leucine rich transmembrane and O-methyltransferase domain Nonsynonymous PGDX11T LRTOMT NM_001145309 chr11_71496787_71496787_C_T 177R>C Substitution 30% containing coding Nonsynonymous PGDX11T NBEAL1 neurobeachin-like 1 NM_001114132 chr2_203699652_203699652_T_A 1009I>N Substitution 38% coding Nonsynonymous PGDX11T NCOA1 nuclear receptor coactivator 1 CCDS1712.1 chr2_24783137_24783137_A_T 432S>C Substitution 37% coding PGDX11T NDST4 N-deacetylase/N-sulfotransferase 4 CCDS3706.1 chr4_115993333_115993333__T NA Insertion Frameshift 27% Nonsynonymous PGDX11T OR5A1 olfactory receptor; family 5; subfamily A; member 1 CCDS31561.1 chr11_58967734_58967734_G_A 173G>R Substitution 29% coding Nonsynonymous PGDX11T OR5D13 olfactory receptor; family 5; subfamily D; member 13 CCDS31507.1 chr11_55298018_55298018_A_T 177N>Y Substitution 14% coding Nonsynonymous PGDX11T PCDHGA9 protocadherin gamma superfamily A, 9 NM_018921 chr5_140764301_140764301_C_T 533T>M Substitution 36% coding Nonsynonymous PGDX11T PIWIL3 piwi-like 3 CCDS33623.1 chr22_23454146_23454146_C_T 644D>N Substitution 46% coding Nonsynonymous PGDX11T PPP1R9B protein phosphatase 1; regulatory subunit 9B ENST00000316878 chr17_45577567_45577567_C_T 469E>K Substitution 18% coding Nonsynonymous PGDX11T PTCHD3 patched domain containing 3 NM_001034842 chr10_27742956_27742956_C_T 77R>Q Substitution 32% coding Nonsynonymous PGDX11T ROBO2 roundabout; axon guidance receptor; homolog 2 CCDS43109.1 chr3_77749499_77749499_C_A 1147Q>K Substitution 44% coding PGDX11T SLC15A2 solute carrier family 15; member 2 CCDS3007.1 chr3_123133274_123133274_T_G NA Substitution Splice site 29% Nonsynonymous PGDX11T SLC17A2 solute carrier family 17; member 2 CCDS4567.1 chr6_26029409_26029409_G_A 151R>W Substitution 52% coding Nonsynonymous PGDX11T SLC22A17 solute carrier family 22; member 17 CCDS9593.1 chr14_22888387_22888387_C_T 154V>I Substitution 45% coding solute carrier family 3 (activators of dibasic and neutral amino Nonsynonymous PGDX11T SLC3A2 CCDS31587.1 chr11_62405382_62405382_T_C 236V>A Substitution 89% acid transport); member 2 coding PGDX11T SMAD4 SMAD family member 4 CCDS11950.1 chr18_46857146_46857146_T_G NA Substitution Splice site 71% PGDX11T SNURF SNRPN upstream reading frame CCDS10016.1 chr15_22751286_22751286_G_A NA Substitution UTR 29% TAF2 RNA polymerase II; TATA box binding protein (TBP)- Nonsynonymous PGDX11T TAF2 CCDS34937.1 chr8_120913139_120913139_C_T 33V>I Substitution 50% associated factor coding Nonsynonymous PGDX11T TOMM70A translocase of outer mitochondrial membrane 70 homolog A CCDS33807.1 chr3_101602176_101602176_C_A 103G>V Substitution 28% coding Nonsynonymous PGDX11T TP53 tumor protein p53 CCDS11118.1 chr17_7519182_7519182_C_A 158R>L Substitution 42% coding Nonsynonymous PGDX11T TSR1 TSR1; 20S rRNA accumulation; homolog CCDS32525.1 chr17_2174753_2174753_C_T 714R>H Substitution 61% coding Nonsynonymous PGDX11T UBA1 ubiquitin-like modifier activating enzyme 1 CCDS14275.1 chrX_46957165_46957165_C_T 869R>W Substitution 12% coding Nonsynonymous PGDX11T UMPS uridine monophosphate synthetase CCDS3029.1 chr3_125941683_125941683_G_A 369A>T Substitution 35% coding Nonsynonymous PGDX11T XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2; membrane-bound CCDS14613.1 chrX_128718172_128718172_T_C 443S>P Substitution 60% coding Nonsynonymous PGDX11T ZCCHC16 zinc finger; CCHC domain containing 16 CCDS35369.1 chrX_111585520_111585520_C_T 303T>M Substitution 39% coding Nonsynonymous PGDX11T ZNF684 zinc finger protein 684 CCDS454.1 chr1_40785045_40785045_G_T 155V>L Substitution 21% coding Nonsynonymous PGDX135T ABCC1 ATP-binding cassette; sub-family C (CFTR/MRP); member 1 CCDS42122.1 chr16_16047253_16047253_C_G 367T>S Substitution 50% coding Nonsynonymous PGDX135T AK1 adenylate kinase 1 CCDS6881.1 chr9_129670554_129670554_C_T 128R>Q Substitution 25% coding Nonsynonymous PGDX135T AKD1 adenylate kinase domain containing 1 CCDS5077.1 chr6_110102099_110102099_A_G 59V>A Substitution 23% coding Nonsynonymous PGDX135T APITD1 apoptosis-inducing; TAF9-like domain 1 CCDS114.1 chr1_10416570_10416570_A_G 46T>A Substitution 28% coding Nonsynonymous PGDX135T BAI3 brain-specific angiogenesis inhibitor 3 CCDS4968.1 chr6_70155472_70155472_G_A 1513V>M Substitution 27% coding Nonsynonymous PGDX135T CHRNB3 cholinergic receptor; nicotinic; beta 3 CCDS6134.1 chr8_42706289_42706289_G_A 228V>I Substitution 22% coding Nonsynonymous PGDX135T COG7 component of oligomeric golgi complex 7 CCDS10610.1 chr16_23316930_23316930_C_G 609G>R Substitution 30% coding Nonsynonymous PGDX135T DNAH5 dynein; axonemal; heavy chain 5 CCDS3882.1 chr5_13815932_13815932_C_T 3394E>K Substitution 25% coding Nonsynonymous PGDX135T EFR3A EFR3 homolog A (S. cerevisiae) NM_015137 chr8_133027986_133027986_T_C 97V>A Substitution 22% coding Nonsynonymous PGDX135T FBN1 fibrillin 1 CCDS32232.1 chr15_46593070_46593070_T_A 519Y>F Substitution 45% coding Nonsynonymous PGDX135T HK3 hexokinase 3 (white cell) CCDS4407.1 chr5_176250507_176250507_A_C 152D>E Substitution 26% coding Nonsynonymous PGDX135T LMTK2 lemur tyrosine kinase 2 CCDS5654.1 chr7_97638916_97638916_T_G 262L>R Substitution 44% coding PGDX135T MDN1 MDN1; midasin homolog (yeast) CCDS5024.1 chr6_90524772_90524772__AGG NA Insertion In-frame insertion 24% Nonsynonymous PGDX135T MUC16 mucin 16, cell surface associated NM_024690 chr19_8921495_8921495_G_A 8984P>L Substitution 31% coding Nonsynonymous PGDX135T MYO16 myosin XVI CCDS32008.1 chr13_108575470_108575470_G_A 1160G>E Substitution 23% coding Nonsynonymous PGDX135T MYOM1 myomesin 1 NM_003803 chr18_3092484_3092484_C_T 1188S>N Substitution 26% coding Nonsynonymous PGDX135T NADSYN1 NAD synthetase 1 CCDS8201.1 chr11_70852154_70852154_A_T 98N>Y Substitution 21% coding Nonsynonymous PGDX135T NRAS neuroblastoma RAS viral (v-ras) oncogene homolog CCDS877.1 chr1_115060268_115060268_C_G 13G>R Substitution 38% coding Nonsynonymous PGDX135T OTOF otoferlin CCDS1725.1 chr2_26551024_26551024_C_T 1050R>Q Substitution 26% coding Nonsynonymous PGDX135T RHAG Rh-associated glycoprotein CCDS4927.1 chr6_49688148_49688148_A_G 289M>T Substitution 44% coding Nonsynonymous PGDX135T SLC43A3 solute carrier family 43; member 3 CCDS7956.1 chr11_56945049_56945049_G_A 168S>F Substitution 19% coding Nonsynonymous PGDX135T SPTA1 spectrin; alpha; erythrocytic 1 (elliptocytosis 2) CCDS41423.1 chr1_156871014_156871014_A_C 1836N>K Substitution 43% coding Nonsynonymous PGDX135T STEAP4 STEAP family member 4 CCDS43611.1 chr7_87750032_87750032_A_C 282W>G Substitution 28% coding Nonsynonymous PGDX135T TCF20 transcription factor 20 (AR1) CCDS14033.1 chr22_40935876_40935876_C_G 1794D>H Substitution 11% coding PGDX135T TRAPPC6B trafficking protein particle complex 6B CCDS41947.1 chr14_38689339_38689339_A_ NA Deletion Splice site 11% Nonsynonymous PGDX135T TRO trophinin CCDS43959.1 chrX_54968828_54968828_G_A 522G>S Substitution 19% coding X-ray repair complementing defective repair in Chinese hamster Nonsynonymous PGDX135T XRCC5 CCDS2402.1 chr2_216721236_216721236_C_G 554F>L Substitution 28% cells 5 (double-strand-break rejoining) coding PGDX135T ZNF292 zinc finger protein 292 NM_015021 chr6_88012085_88012085_A_G NA Substitution Splice site 23% Nonsynonymous PGDX135T ZSCAN4 zinc finger and SCAN domain containing 4 CCDS12958.1 chr19_62879522_62879522_A_G 66Y>C Substitution 27% coding PGDX140 A2BP1 Fox-1 homolog CCDS10531.1 chr16_7699135_7699135_G_T NA Substitution Splice site 59% Nonsynonymous PGDX140 ABCB1 ATP-binding cassette; sub-family B (MDR/TAP); member 1 CCDS5608.1 chr7_87033489_87033489_C_T 179V>I Substitution 30% coding Nonsynonymous PGDX140 ABHD10 abhydrolase domain containing 10 CCDS2963.1 chr3_113193085_113193085_G_A 250D>N Substitution 86% coding PGDX140 ABI3BP target of Nesh-SH3 precursor NM_015429 chr3_102053478_102053478_A_
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