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_ NA Deletion Splice site 24% Nonsynonymous PGDX140 AC006273.1 Lipid phosphate phosphatase-related protein type 3 CCDS12043.1 chr19_766238_766238_G_C 117N>K Substitution 100% coding Nonsynonymous PGDX140 AC008060.7 uncharacterized protein ENST00000401499 chr7_154880596_154880596_C_A 96P>Q Substitution 47% coding PGDX140 AC016251.9 uncharacterized protein ENST00000378936 chr15_94632364_94632364_C_ NA Insertion Frameshift 84% Nonsynonymous PGDX140 ACACA acetyl-CoA carboxylase alpha CCDS42302.1 chr17_32688892_32688892_G_A 558P>S Substitution 16% coding PGDX140 ACACB acetyl-CoA carboxylase beta CCDS31898.1 chr12_108114139_108114139_G_T NA Substitution Splice site 89% Nonsynonymous PGDX140 ADAM17 ADAM metallopeptidase domain 17 CCDS1665.1 chr2_9585507_9585507_T_C 160K>E Substitution 71% coding PGDX140 ADAMTSL4 ADAMTS-like 4 CCDS955.1 chr1_148793048_148793048_G_ NA Deletion Frameshift 52% Nonsynonymous PGDX140 ADCY2 adenylate cyclase 2 (brain) CCDS3872.2 chr5_7762409_7762409_G_T 496R>L Substitution 31% coding Nonsynonymous PGDX140 AL589787.16 uncharacterized protein ENST00000368673 chr10_128138069_128138069_C_T 76H>Y Substitution 47% coding Nonsynonymous PGDX140 AL645933.8 MHC class I polypeptide-related sequence A ENST00000376219 chr6_31487727_31487727_G_T 213R>L Substitution 21% coding Nonsynonymous PGDX140 ANK1 ankyrin 1; erythrocytic CCDS6119.1 chr8_41662939_41662939_C_G 1426Q>H Substitution 88% coding PGDX140 ANKMY2 ankyrin repeat and MYND domain containing 2 CCDS5361.1 chr7_16642608_16642608_A_ NA Deletion Splice site 14% Nonsynonymous PGDX140 ANKRD55 ankyrin repeat domain 55 CCDS34161.1 chr5_55507858_55507858_G_A 64P>S Substitution 49% coding Nonsynonymous PGDX140 ANTXR1 anthrax toxin receptor 1 CCDS1892.1 chr2_69158104_69158104_C_G 208L>V Substitution 60% coding Nonsynonymous PGDX140 ANXA7 annexin A7 CCDS7326.1 chr10_74805909_74805909_C_T 473D>N Substitution 16% coding Nonsynonymous PGDX140 APEX2 APEX nuclease 2 CCDS14365.1 chrX_55044720_55044720_G_T 58E>D Substitution 100% coding Nonsynonymous PGDX140 API5 apoptosis inhibitor 5 CCDS31465.1 chr11_43301562_43301562_G_A 184E>K Substitution 38% coding Nonsynonymous PGDX140 APOB apolipoprotein B (including Ag(x) antigen) CCDS1703.1 chr2_21082710_21082710_G_T 3512T>N Substitution 21% coding Nonsynonymous PGDX140 APOB apolipoprotein B (including Ag(x) antigen) CCDS1703.1 chr2_21082044_21082044_C_A 3734G>V Substitution 63% coding PGDX140 APOL3 apolipoprotein L; 3 CCDS13922.1 chr22_34867262_34867262_C_A 381E>X Substitution Nonsense 66% Nonsynonymous PGDX140 AQP12B aquaporin 12B ENST00000373310 chr2_241267770_241267770_G_A 202H>Y Substitution 38% coding Nonsynonymous PGDX140 ARAP2 ArfGAP with RhoGAP domain; ankyrin repeat and PH domain 2 CCDS3441.1 chr4_35769954_35769954_G_C 1457Q>E Substitution 43% coding Nonsynonymous PGDX140 ARHGAP30 Rho GTPase activating protein 30 CCDS30918.1 chr1_159292847_159292847_T_A 100E>D Substitution 45% coding Nonsynonymous PGDX140 ARHGAP36 Rho GTPase activating protein 36 CCDS14628.1 chrX_130050388_130050388_G_T 531R>L Substitution 97% coding Nonsynonymous PGDX140 ASB10 ankyrin repeat and SOCS box-containing 10 CCDS5921.1 chr7_150514844_150514844_G_A 103R>C Substitution 46% coding Nonsynonymous PGDX140 ASTN1 astrotactin 1 CCDS1319.1 chr1_175200959_175200959_G_T 521L>M Substitution 38% coding Nonsynonymous PGDX140 ASTN2 astrotactin 2 CCDS6815.1 chr9_118778272_118778272_T_A 514T>S Substitution 61% coding Nonsynonymous PGDX140 ASZ1 ankyrin repeat; SAM and basic leucine zipper domain containing 1 CCDS5772.1 chr7_116791025_116791025_C_A 430R>L Substitution 22% coding Nonsynonymous PGDX140 BATF2 basic leucine zipper transcription factor; ATF-like 2 CCDS8087.1 chr11_64513727_64513727_G_A 92S>L Substitution 53% coding Nonsynonymous PGDX140 BAZ1A bromodomain adjacent to zinc finger domain; 1A CCDS9651.1 chr14_34401269_34401269_C_G 42E>Q Substitution 62% coding Nonsynonymous PGDX140 BIRC6 baculoviral IAP repeat-containing protein 6 NM_016252 chr2_32566221_32566221_C_T 2606S>L Substitution 16% coding Nonsynonymous PGDX140 BRD2 Bromodomain-containing protein 2 CCDS4762.1 chr6_33052360_33052360_C_T 290P>L Substitution 58% coding Nonsynonymous PGDX140 BTN3A3 butyrophilin; subfamily 3; member A3 CCDS4611.1 chr6_26556491_26556491_C_T 251A>V Substitution 59% coding PGDX140 BUB1B budding uninhibited by benzimidazoles 1 homolog beta (yeast) CCDS10053.1 chr15_38281897_38281897_G_T NA Substitution Splice site 88% Nonsynonymous PGDX140 C10orf76 chromosome 10 open reading frame 76 CCDS41563.1 chr10_103761511_103761511_C_T 264E>K Substitution 27% coding Nonsynonymous PGDX140 C10orf76 chromosome 10 open reading frame 76 CCDS41563.1 chr10_103759189_103759189_C_G 296E>Q Substitution 29% coding Nonsynonymous PGDX140 C10orf76 chromosome 10 open reading frame 76 CCDS41563.1 chr10_103756290_103756290_C_A 349D>Y Substitution 34% coding Nonsynonymous PGDX140 C10orf92 uncharacterized protein CCDS7671.1 chr10_134472322_134472322_C_A 742G>C Substitution 19% coding PGDX140 C13orf18 chromosome 13 open reading frame 18 NM_025113 chr13_45816947_45816947_A_ NA Insertion Frameshift 73% Nonsynonymous PGDX140 C14orf177 chromosome 14 open reading frame 177 CCDS9948.1 chr14_98253233_98253233_A_G 83R>G Substitution 83% coding Nonsynonymous PGDX140 C1orf175 chromosome 1 open reading frame 175 CCDS41342.1 chr1_54940975_54940975_A_C 1175Q>P Substitution 44% coding Nonsynonymous PGDX140 C20orf123 transmembrane protein C20orf123 NM_080721 chr20_44607872_44607872_C_A 183R>L Substitution 31% coding Nonsynonymous PGDX140 C20orf152 chromosome 20 open reading frame 152 CCDS13270.1 chr20_34024023_34024023_G_T 37R>L Substitution 88% coding Nonsynonymous PGDX140 C3orf21 chromosome 3 open reading frame 21 CCDS43188.1 chr3_196472654_196472654_G_T 141F>L Substitution 22% coding PGDX140 C6 complement component 6 CCDS3936.1 chr5_41197683_41197683_G_ NA Deletion Frameshift 50% Nonsynonymous PGDX140 C9orf50 chromosome 9 open reading frame 50 CCDS35159.1 chr9_131415253_131415253_C_T 381R>Q Substitution 21% coding Nonsynonymous PGDX140 CABC1 chaperone; ABC1 activity of bc1 complex homolog (S. pombe) CCDS1557.1 chr1_225219605_225219605_C_G 153F>L Substitution 28% coding Nonsynonymous PGDX140 CACNA2D1 calcium channel; voltage-dependent; alpha 2/delta subunit 1 CCDS5598.1 chr7_81437972_81437972_C_T 720R>Q Substitution 11% coding Nonsynonymous PGDX140 CAND2 cullin-associated and neddylation-dissociated 2 CCDS43053.1 chr3_12843997_12843997_C_A 973A>D Substitution 24% coding Nonsynonymous PGDX140 CAP2 CAP; adenylate cyclase-associated protein; 2 (yeast) CCDS4539.1 chr6_17651353_17651353_G_T 403Q>H Substitution 19% coding Nonsynonymous PGDX140 CARD10 caspase recruitment domain family; member 10 CCDS13948.1 chr22_36242055_36242055_C_A 190E>D Substitution 65% coding Nonsynonymous PGDX140 CCDC148 coiled-coil domain containing 148 CCDS33304.1 chr2_158815641_158815641_C_A 380E>D Substitution 19% coding Nonsynonymous PGDX140 CCDC150 coiled-coil domain-containing protein 150 NM_001080539 chr2_197249194_197249194_T_A 407L>Q Substitution 26% coding PGDX140 CCDC150 coiled-coil domain-containing protein 150 NM_001080539 chr2_197285110_197285110_C_T NA Substitution Splice site 39% Nonsynonymous PGDX140 CCDC18 coiled-coil domain containing 18 CCDS41356.1 chr1_93477561_93477561_C_G 1022Q>E Substitution 42% coding Nonsynonymous PGDX140 CCDC64 coiled-coil domain containing 64 CCDS41845.1 chr12_119003121_119003121_C_A 452D>E Substitution 94% coding Nonsynonymous PGDX140 CD6 CD6 molecule CCDS7999.1 chr11_60543325_60543325_T_G 656S>A Substitution 35% coding Nonsynonymous PGDX140 CD82 CD82 molecule CCDS7909.1 chr11_44583549_44583549_G_A 110M>I Substitution 43% coding Nonsynonymous PGDX140 CD93 CD93 molecule CCDS13149.1 chr20_23014340_23014340_G_A 164P>S Substitution 32% coding PGDX140 CDH2 cadherin 2; type 1; N-cadherin (neuronal) CCDS11891.1 chr18_23822495_23822495_A_ NA Deletion Frameshift 78% Nonsynonymous PGDX140 CDH2 cadherin 2; type 1; N-cadherin (neuronal) CCDS11891.1 chr18_23822497_23822497_G_T 577A>D Substitution 78% coding Nonsynonymous PGDX140 CDH8 cadherin 8; type 2 CCDS10802.1 chr16_60416553_60416553_G_T 233D>E Substitution 63% coding Nonsynonymous PGDX140 CFLAR CASP8 and FADD-like apoptosis regulator CCDS2337.1 chr2_201713373_201713373_A_T 191Q>L Substitution 51% coding Nonsynonymous PGDX140 CHRM4 muscarinic acetylcholine receptor M4 NM_000741 chr11_46363620_46363620_G_T 355T>K Substitution 50% coding Nonsynonymous PGDX140 CHRNB2 cholinergic receptor; nicotinic; beta 2 (neuronal) CCDS1070.1 chr1_152810483_152810483_T_A 187L>Q Substitution 26% coding PGDX140 CLCA4 chloride channel accessory 4 CCDS41355.1 chr1_86816345_86816345_T_A NA Substitution Splice site 46% Nonsynonymous PGDX140 CLCN1 chloride channel 1; skeletal muscle CCDS5881.1 chr7_142749275_142749275_A_T 572S>C Substitution 33% coding Nonsynonymous PGDX140 CLMN calmin (calponin-like; transmembrane) CCDS9933.1 chr14_94746873_94746873_C_G 235M>I Substitution 29% coding Nonsynonymous PGDX140 CNTD1 cyclin N-terminal domain containing 1 CCDS11440.1 chr17_38211411_38211411_C_A 188T>K Substitution 66% coding Nonsynonymous PGDX140 COL11A1 collagen; type XI; alpha 1 CCDS779.1 chr1_103240083_103240083_G_T 722P>T Substitution 33% coding Nonsynonymous PGDX140 COL27A1 collagen; type XXVII; alpha 1 CCDS6802.1 chr9_115970743_115970743_A_G 363K>E Substitution 28% coding PGDX140 CRB1 crumbs homolog 1 (Drosophila) CCDS1390.1 chr1_195656977_195656977_G_T 466G>X Substitution Nonsense 69% Nonsynonymous PGDX140 CSMD1 CUB and sushi domain-containing protein 1 precursor NM_033225 chr8_2897524_2897524_G_C 2510R>G Substitution 82% coding Nonsynonymous PGDX140 CSMD3 CUB and Sushi multiple domains 3 CCDS6315.1 chr8_113585210_113585210_G_A 1690H>Y Substitution 16% coding PGDX140 CTNNA2 catenin (cadherin-associated protein); alpha 2 CCDS42703.1 chr2_80670006_80670006_C_T 693Q>X Substitution Nonsense 23% PGDX140 CTNNA3 catenin (cadherin-associated protein); alpha 3 CCDS7269.1 chr10_67533014_67533014_C_A NA Substitution Splice site 27% Nonsynonymous PGDX140 CUX2 cut-like homeobox 2 CCDS41837.1 chr12_110244732_110244732_G_A 964G>D Substitution 23% coding Nonsynonymous PGDX140 CXorf30 putative uncharacterized protein CXorf30 NM_001098843 chrX_36307425_36307425_C_G 521S>R Substitution 39% coding Nonsynonymous PGDX140 CYLD cylindromatosis (turban tumor syndrome) CCDS42164.1 chr16_49384034_49384034_T_C 753M>T Substitution 12% coding PGDX140 CYP11B2 cytochrome P450; family 11; subfamily B; polypeptide 2 CCDS6393.1 chr8_143996132_143996132_G_ NA Deletion Frameshift 54% Nonsynonymous PGDX140 DAB1 disabled homolog 1 (Drosophila) CCDS607.1 chr1_57529244_57529244_T_A 16K>M Substitution 36% coding PGDX140 DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) CCDS8003.1 chr11_60867509_60867509_G_C NA Substitution Splice site 36% Nonsynonymous PGDX140 DBF4 DBF4 homolog (S. cerevisiae) CCDS5611.1 chr7_87375178_87375178_G_A 597D>N Substitution 53% coding Nonsynonymous PGDX140 DCHS1 dachsous 1 (Drosophila) CCDS7771.1 chr11_6618382_6618382_A_G 347F>L Substitution 40% coding Nonsynonymous PGDX140 DCHS2 dachsous 2 (Drosophila) CCDS3785.1 chr4_155375260_155375260_G_A 2877L>F Substitution 30% coding PGDX140 DCHS2 dachsous 2 (Drosophila) CCDS3785.1 chr4_155375988_155375988_G_C 2634S>X Substitution Nonsense 33% Nonsynonymous PGDX140 DIDO1 death inducer-obliterator 1 CCDS33506.1 chr20_60998405_60998405_C_T 659M>I Substitution 18% coding Nonsynonymous PGDX140 DKK1 dickkopf homolog 1 (Xenopus laevis) CCDS7246.1 chr10_53746519_53746519_A_T 249K>N Substitution 35% coding Nonsynonymous PGDX140 DLX4 distal-less homeobox 4 CCDS11555.1 chr17_45405460_45405460_C_T 103P>L Substitution 46% coding Nonsynonymous PGDX140 DNAH9 dynein; axonemal; heavy chain 9 CCDS11160.1 chr17_11713179_11713179_C_A 3313L>I Substitution 88% coding PGDX140 DNAJC25 DnaJ (Hsp40) homolog; subfamily C ; member 25 CCDS43862.1 chr9_113452026_113452026_T_C NA Substitution Splice site 38% Nonsynonymous PGDX140 DOCK10 dedicator of cytokinesis 10 NM_014689 chr2_225368015_225368015_C_T 1660R>H Substitution 20% coding Nonsynonymous PGDX140 DOCK4 dedicator of cytokinesis protein 4 NM_014705 chr7_111236167_111236167_C_A 1038G>C Substitution 27% coding Nonsynonymous PGDX140 DYNC1I2 dynein; cytoplasmic 1; intermediate chain 2 NM_001378 chr2_172272060_172272060_C_G 88P>A Substitution 16% coding Nonsynonymous PGDX140 E2F6 E2F transcription factor 6 CCDS1680.2 chr2_11507627_11507627_G_C 205P>A Substitution 18% coding PGDX140 EED embryonic ectoderm development CCDS8273.1 chr11_85645206_85645206_G_T NA Substitution Splice site 21% Nonsynonymous PGDX140 EGFR epidermal growth factor receptor CCDS5514.1 chr7_55240644_55240644_C_T 1158A>V Substitution 21% coding extracellular leucine-rich repeat and fibronectin type-III domain- Nonsynonymous PGDX140 ELFN1 NM_001128636 chr7_1751248_1751248_T_A 164S>T Substitution 64% containing protein 1 coding PGDX140 EMX1 empty spiracles homeobox 1 CCDS1921.2 chr2_73005056_73005056_T_ NA Insertion Frameshift 72% Nonsynonymous PGDX140 ENPEP glutamyl aminopeptidase (aminopeptidase A) CCDS3691.1 chr4_111683412_111683412_G_T 622D>Y Substitution 47% coding PGDX140 EPB41L4B erythrocyte membrane protein band 4.1 like 4B ENST00000311609 chr9_111109329_111109330_TT_ NA Deletion Frameshift 14% Nonsynonymous PGDX140 EPHB1 ephrin type-B receptor 1 precursor NM_004441 chr3_136153214_136153214_C_G 145S>R Substitution 67% coding PGDX140 EPHB6 EPH receptor B6 CCDS5873.1 chr7_142275482_142275482_C_A NA Substitution Splice site 45% Nonsynonymous PGDX140 ERG v-ets erythroblastosis virus E26 oncogene homolog (avian) CCDS13658.1 chr21_38677416_38677416_A_T 407S>T Substitution 45% coding PGDX140 EXD2 exonuclease 3'-5' domain containing 2 CCDS9793.1 chr14_68777451_68777451_C_ NA Deletion Frameshift 68% Nonsynonymous PGDX140 EXD2 exonuclease 3'-5' domain containing 2 CCDS9793.1 chr14_68777452_68777452_G_T 458R>L Substitution 48% coding Nonsynonymous PGDX140 EYA4 eyes absent homolog 4 (Drosophila) CCDS5166.1 chr6_133825257_133825257_G_C 177V>L Substitution 60% coding Nonsynonymous PGDX140 F5 coagulation factor V (proaccelerin; labile factor) CCDS1281.1 chr1_167777217_167777217_G_T 1245S>R Substitution 40% coding PGDX140 FAM116A family with sequence similarity 116; member A CCDS33773.1 chr3_57653746_57653746_G_A 14R>X Substitution Nonsense 50% Nonsynonymous PGDX140 FAM120C family with sequence similarity 120C CCDS14356.1 chrX_54116334_54116334_G_A 1050L>F Substitution 92% coding Nonsynonymous PGDX140 FAM135B family with sequence similarity 135; member B CCDS6375.2 chr8_139218638_139218638_G_A 1317R>C Substitution 11% coding Nonsynonymous PGDX140 FAM13C family with sequence similarity 13; member C CCDS7255.1 chr10_60782168_60782168_C_A 64E>D Substitution 27% coding Nonsynonymous PGDX140 FAM179A family with sequence similarity 179; member A NM_199280 chr2_29113001_29113001_C_T 837L>F Substitution 18% coding Nonsynonymous PGDX140 FAM179B family with sequence similarity 179; member B CCDS9681.1 chr14_44502689_44502689_G_T 439A>S Substitution 63% coding Nonsynonymous PGDX140 FAM193A family with sequence similarity 193; member A CCDS33943.1 chr4_2671520_2671520_C_T 984H>Y Substitution 47% coding Nonsynonymous PGDX140 FAM50B family with sequence similarity 50; member B CCDS4487.1 chr6_3795727_3795727_G_A 228R>H Substitution 63% coding Nonsynonymous PGDX140 FAM82A1 family with sequence similarity 82; member A1 CCDS1792.1 chr2_38032160_38032160_G_C 100D>H Substitution 21% coding Nonsynonymous PGDX140 FAM83H family with sequence similarity 83; member H CCDS6410.2 chr8_144882142_144882142_C_T 493A>T Substitution 67% coding Nonsynonymous PGDX140 FAT3 protocadherin Fat 3 NM_001008781 chr11_92171828_92171828_G_T 2001V>F Substitution 59% coding Nonsynonymous PGDX140 FBN1 fibrillin 1 CCDS32232.1 chr15_46516507_46516507_C_A 2147G>C Substitution 90% coding Nonsynonymous PGDX140 FBN1 fibrillin 1 CCDS32232.1 chr15_46516506_46516506_C_A 2147G>V Substitution 90% coding Nonsynonymous PGDX140 FBN2 fibrillin 2 CCDS34222.1 chr5_127741395_127741395_A_C 600C>G Substitution 38% coding Nonsynonymous PGDX140 FBXO4 F-box protein 4 CCDS3938.1 chr5_41963106_41963106_G_T 142V>F Substitution 64% coding Nonsynonymous PGDX140 FCHSD2 FCH and double SH3 domains 2 CCDS8218.1 chr11_72389695_72389695_C_G 69Q>H Substitution 14% coding Nonsynonymous PGDX140 FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ENST00000392997 chr9_136915059_136915059_C_T 102A>V Substitution 26% coding Nonsynonymous PGDX140 FMO1 flavin containing monooxygenase 1 CCDS1294.1 chr1_169516738_169516738_C_A 273P>T Substitution 70% coding Nonsynonymous PGDX140 FOS FBJ murine osteosarcoma viral oncogene homolog CCDS9841.1 chr14_74817034_74817034_G_C 138E>Q Substitution 29% coding Nonsynonymous PGDX140 FOXI1 forkhead box I1 CCDS4372.1 chr5_169467703_169467703_G_T 216R>M Substitution 54% coding Nonsynonymous PGDX140 FRAS1 Fraser syndrome 1 NM_025074 chr4_79618178_79618178_C_A 2679D>E Substitution 39% coding Nonsynonymous PGDX140 FRRS1 ferric-chelate reductase 1 CCDS30780.1 chr1_99979051_99979051_C_G 154W>C Substitution 48% coding Nonsynonymous PGDX140 FTSJ3 FtsJ homolog 3 (E. coli) CCDS11644.1 chr17_59251199_59251199_C_G 775E>Q Substitution 15% coding Nonsynonymous PGDX140 FTSJ3 FtsJ homolog 3 (E. coli) CCDS11644.1 chr17_59256508_59256508_G_C 141L>V Substitution 63% coding PGDX140 FTSJD1 FtsJ methyltransferase domain containing 1 CCDS10898.1 chr16_69877199_69877201_AAT_ NA Deletion In-frame deletion 66% Nonsynonymous PGDX140 GABRB3 gamma-aminobutyric acid (GABA) A receptor; beta 3 CCDS10018.1 chr15_24379594_24379594_G_T 174N>K Substitution 81% coding PGDX140 GABRG3 gamma-aminobutyric acid (GABA) A receptor; gamma 3 NM_033223 chr15_25451625_25451625_G_ NA Deletion UTR 41% Nonsynonymous PGDX140 GALM galactose mutarotase (aldose 1-epimerase) CCDS1797.1 chr2_38746848_38746848_C_T 14S>L Substitution 74% coding UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- Nonsynonymous PGDX140 GALNT13 CCDS2199.1 chr2_154866232_154866232_A_T 347K>M Substitution 57% acetylgalactosaminyltransferase 13 (GalNAc-T13) coding UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- Nonsynonymous PGDX140 GALNT13 CCDS2199.1 chr2_154866234_154866234_G_C 348A>P Substitution 58% acetylgalactosaminyltransferase 13 (GalNAc-T13) coding Nonsynonymous PGDX140 GBA3 Cytosolic beta-glucosidase ENST00000317327 chr4_22359640_22359640_G_A 389R>H Substitution 44% coding Nonsynonymous PGDX140 GCK glucokinase (hexokinase 4) CCDS5480.1 chr7_44159502_44159502_C_T 45G>D Substitution 22% coding Nonsynonymous PGDX140 GLB1L3 beta-galactosidase-1-like protein 3 NM_001080407 chr11_133687945_133687945_G_A 485G>E Substitution 63% coding Nonsynonymous PGDX140 GLI3 GLI family zinc finger 3 CCDS5465.1 chr7_41971782_41971782_G_T 1138H>Q Substitution 31% coding Nonsynonymous PGDX140 GPR142 G protein-coupled receptor 142 NM_153209 chr17_69854139_69854139_G_A 269E>K Substitution 14% coding Nonsynonymous PGDX140 GPR172A G protein-coupled receptor 172A CCDS6423.1 chr8_145554837_145554837_G_C 293V>L Substitution 60% coding Nonsynonymous PGDX140 GRIK1 glutamate receptor; ionotropic; kainate 1 CCDS42913.1 chr21_29893026_29893026_C_T 401E>K Substitution 41% coding Nonsynonymous PGDX140 GRM8 glutamate receptor; metabotropic 8 CCDS5794.1 chr7_125873529_125873529_C_A 855S>I Substitution 55% coding Nonsynonymous PGDX140 GRM8 glutamate receptor; metabotropic 8 CCDS5794.1 chr7_125961152_125961152_C_T 507R>K Substitution 29% coding Nonsynonymous PGDX140 H2BFM H2B histone family; member M ENST00000243297 chrX_103155003_103155003_C_T 27R>C Substitution 55% coding Nonsynonymous PGDX140 HEPH hephaestin CCDS14384.1 chrX_65307225_65307225_C_A 30L>M Substitution 87% coding PGDX140 HEXA hexosaminidase A (alpha polypeptide) CCDS10243.1 chr15_70423483_70423483_C_A 527E>X Substitution Nonsense 19% Nonsynonymous PGDX140 HIC2 hypermethylated in cancer 2 CCDS13789.1 chr22_20129590_20129590_C_T 136R>C Substitution 77% coding Nonsynonymous PGDX140 HSF5 heat shock transcription factor family member 5 CCDS32690.1 chr17_53895168_53895168_C_T 506E>K Substitution 65% coding Nonsynonymous PGDX140 HUNK hormonally up-regulated Neu-associated kinase CCDS13610.1 chr21_32293229_32293229_G_A 669G>E Substitution 51% coding Nonsynonymous PGDX140 HYDIN hydrocephalus inducing homolog (mouse) CCDS42189.1 chr16_69660831_69660831_C_A 605G>V Substitution 40% coding Nonsynonymous PGDX140 IGHA1 immunoglobulin heavy constant alpha 1 ENST00000390547 chr14_105245815_105245815_A_G 78X>Q Substitution 10% coding Nonsynonymous PGDX140 IGHV3-43 Immunoglobulin heavy chain V gene segment ENST00000390620 chr14_105997367_105997367_C_A 74G>C Substitution 87% coding Nonsynonymous PGDX140 IGKV6-21 immunoglobulin kappa variable 6-21 (non-functional) ENST00000390256 chr2_89240370_89240370_G_A 108H>Y Substitution 22% coding PGDX140 IGLV1-50 immunoglobulin lambda variable 1-50 (non-functional) ENST00000390291 chr22_21011864_21011864_G_T NA Substitution Splice site 17% Nonsynonymous PGDX140 IL12RB2 interleukin 12 receptor; beta 2 CCDS638.1 chr1_67567977_67567977_A_G 262S>G Substitution 32% coding Nonsynonymous PGDX140 IL1RL1 interleukin 1 receptor-like 1 CCDS2057.1 chr2_102321797_102321797_T_C 44Y>H Substitution 12% coding Nonsynonymous PGDX140 INSC inscuteable homolog (Drosophila) CCDS41621.1 chr11_15156520_15156520_G_T 224G>V Substitution 48% coding Nonsynonymous PGDX140 INTU inturned planar cell polarity effector homolog (Drosophila) CCDS34061.1 chr4_128828311_128828311_C_G 430R>G Substitution 40% coding Nonsynonymous PGDX140 INTU inturned planar cell polarity effector homolog (Drosophila) CCDS34061.1 chr4_128847230_128847230_G_C 643D>H Substitution 34% coding Nonsynonymous PGDX140 ITIH5 inter-alpha (globulin) inhibitor H5 CCDS31139.1 chr10_7661832_7661832_C_A 437G>V Substitution 87% coding Nonsynonymous PGDX140 ITK IL2-inducible T-cell kinase CCDS4336.1 chr5_156605546_156605546_C_G 531S>C Substitution 56% coding Nonsynonymous PGDX140 IVNS1ABP influenza virus NS1A binding protein CCDS1368.1 chr1_183545143_183545143_G_A 36L>F Substitution 41% coding Nonsynonymous PGDX140 JRK jerky protein homolog isoform a NM_003724 chr8_143744167_143744167_C_A 105V>F Substitution 45% coding potassium voltage-gated channel; subfamily H (eag-related); Nonsynonymous PGDX140 KCNH5 CCDS9756.1 chr14_62386241_62386241_C_G 484M>I Substitution 15% member 5 coding Nonsynonymous PGDX140 KCNT1 potassium channel; subfamily T; member 1 CCDS35175.1 chr9_137818151_137818151_C_A 1155N>K Substitution 45% coding Nonsynonymous PGDX140 KCNU1 potassium channel subfamily U member 1 NM_001031836 chr8_36912596_36912596_G_T 1150X>Y Substitution 34% coding Nonsynonymous PGDX140 KDM5A lysine (K)-specific demethylase 5A CCDS41736.1 chr12_363559_363559_C_G 89D>H Substitution 19% coding Nonsynonymous PGDX140 KEAP1 kelch-like ECH-associated protein 1 CCDS12239.1 chr19_10463646_10463646_T_C 311H>R Substitution 96% coding Nonsynonymous PGDX140 KIAA1632 KIAA1632 CCDS11926.2 chr18_41788803_41788803_G_A 188S>F Substitution 91% coding Nonsynonymous PGDX140 KIF21B kinesin family member 21B CCDS30965.1 chr1_199213020_199213020_G_A 1410S>L Substitution 52% coding Nonsynonymous PGDX140 KIF26B kinesin family member 26B NM_018012 chr1_243832527_243832527_C_A 459S>Y Substitution 58% coding Nonsynonymous PGDX140 KIF2A kinesin heavy chain member 2A NM_001098511 chr5_61705386_61705386_C_A 626Q>K Substitution 43% coding Nonsynonymous PGDX140 KLF2 Kruppel-like factor 2 (lung) CCDS12343.1 chr19_16298802_16298802_G_C 343R>P Substitution 96% coding Nonsynonymous PGDX140 KLHL15 kelch-like 15 (Drosophila) CCDS35217.1 chrX_23934636_23934636_A_T 32D>E Substitution 47% coding Nonsynonymous PGDX140 KLHL23 kelch-like 23 (Drosophila) CCDS2236.1 chr2_170306192_170306192_G_T 422G>V Substitution 64% coding PGDX140 KLHL33 kelch-like protein 33 NM_001109997 chr14_19967334_19967334_G_T 372Y>X Substitution Nonsense 20% Nonsynonymous PGDX140 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25289552_25289552_C_T 12G>S Substitution 83% coding Nonsynonymous PGDX140 KRTAP21-3 keratin-associated protein 21-3 NM_001164435 chr21_31012850_31012850_G_C 33N>K Substitution 48% coding Nonsynonymous PGDX140 KRTAP27-1 keratin associated protein 27-1 CCDS33532.1 chr21_30631808_30631808_G_A 17P>L Substitution 43% coding Nonsynonymous PGDX140 LAMB3 laminin; beta 3 CCDS1487.1 chr1_207865886_207865886_C_T 569R>Q Substitution 33% coding PGDX140 LANCL2 LanC lantibiotic synthetase component C-like 2 (bacterial) CCDS5517.1 chr7_55447096_55447096_G_ NA Insertion Frameshift 50% Nonsynonymous PGDX140 LATS1 Serine/threonine-protein kinase LATS1 CCDS34551.1 chr6_150043033_150043033_T_C 755D>G Substitution 92% coding Nonsynonymous PGDX140 LDB2 LIM domain binding 2 CCDS3420.1 chr4_16369934_16369934_T_A 60E>D Substitution 34% coding Nonsynonymous PGDX140 LDHC lactate dehydrogenase C CCDS7840.1 chr11_18424456_18424456_G_T 278K>N Substitution 51% coding Nonsynonymous PGDX140 LPHN3 latrophilin-3 precursor NM_015236 chr4_62281445_62281445_G_C 258G>A Substitution 47% coding Nonsynonymous PGDX140 LPHN3 latrophilin-3 precursor NM_015236 chr4_62461047_62461047_C_A 629R>S Substitution 25% coding Nonsynonymous PGDX140 LRP1B low density lipoprotein receptor-related protein 1B CCDS2182.1 chr2_141174553_141174553_C_G 2179G>R Substitution 26% coding Nonsynonymous PGDX140 LRP1B low density lipoprotein receptor-related protein 1B CCDS2182.1 chr2_141174552_141174552_C_A 2179G>V Substitution 26% coding Nonsynonymous PGDX140 LY6H lymphocyte antigen 6 complex; locus H CCDS6396.1 chr8_144311235_144311235_C_A 77C>F Substitution 18% coding Nonsynonymous PGDX140 MAGEA11 melanoma antigen family A; 11 NM_005366 chrX_148576316_148576316_G_C 315L>V Substitution 95% coding Nonsynonymous PGDX140 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) CCDS11869.1 chr18_13874694_13874694_A_G 275I>T Substitution 89% coding Nonsynonymous PGDX140 MEF2C myocyte-specific enhancer factor 2C isoform 1 NM_002397 chr5_88092856_88092856_C_A 102D>Y Substitution 26% coding PGDX140 MGA MAX gene-associated protein isoform 1 NM_001164273 chr15_39819621_39819623_TCC_ NA Deletion In-frame deletion 13% Nonsynonymous PGDX140 MGA MAX gene-associated protein isoform 1 NM_001164273 chr15_39829358_39829358_G_T 2087R>S Substitution 93% coding Nonsynonymous PGDX140 MPPED2 metallophosphoesterase MPPED2 isoform 2 NM_001145399 chr11_30367073_30367073_G_T 258P>H Substitution 42% coding Nonsynonymous PGDX140 MSH5 mutS homolog 5 (E. coli) CCDS34409.1 chr6_31835895_31835895_G_A 596E>K Substitution 58% coding Nonsynonymous PGDX140 MSH6 mutS homolog 6 (E. coli) CCDS1836.1 chr2_47880347_47880347_C_T 574S>L Substitution 64% coding Nonsynonymous PGDX140 MUC16 mucin-16 NM_024690 chr19_8928546_8928546_C_G 6634V>L Substitution 89% coding Nonsynonymous PGDX140 MUTYH mutY homolog (E. coli) CCDS520.1 chr1_45568809_45568809_C_T 492R>H Substitution 53% coding Nonsynonymous PGDX140 MYCBP2 MYC binding protein 2 CCDS31994.1 chr13_76733313_76733313_C_G 578E>Q Substitution 87% coding Nonsynonymous PGDX140 MYF5 myogenic factor 5 CCDS9020.1 chr12_79635004_79635004_C_A 11P>T Substitution 88% coding Nonsynonymous PGDX140 MYH2 myosin; heavy chain 2; skeletal muscle; adult CCDS11156.1 chr17_10383580_10383580_T_C 391Q>R Substitution 91% coding Nonsynonymous PGDX140 MYH7 myosin; heavy chain 7; cardiac muscle; beta CCDS9601.1 chr14_22968825_22968825_T_A 379E>D Substitution 14% coding Nonsynonymous PGDX140 MYL7 myosin; light chain 7; regulatory CCDS5478.1 chr7_44147194_44147194_C_A 3S>I Substitution 34% coding PGDX140 MYOT myotilin CCDS4194.1 chr5_137244456_137244456_A_ NA Deletion Splice site 35% Nonsynonymous PGDX140 NAA25 N(alpha)-acetyltransferase 25; NatB auxiliary subunit CCDS9159.1 chr12_110976714_110976714_C_G 497E>Q Substitution 38% coding Nonsynonymous PGDX140 NCAM1 neural cell adhesion molecule 1 ENST00000404693 chr11_112610968_112610968_G_T 438S>I Substitution 70% coding Nonsynonymous PGDX140 NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 CCDS3706.1 chr4_115980133_115980133_A_T 712D>E Substitution 45% coding Nonsynonymous PGDX140 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1; 75kDa CCDS2366.1 chr2_206720567_206720567_C_A 162D>Y Substitution 60% coding PGDX140 NEB nebulin isoform 2 NM_001164508 chr2_152220744_152220744_G_ NA Deletion Frameshift 24% Nonsynonymous PGDX140 NECAB2 N-terminal EF-hand calcium binding protein 2 CCDS10940.1 chr16_82569586_82569586_T_A 88F>Y Substitution 21% coding Nonsynonymous PGDX140 NELL1 NEL-like 1 (chicken) CCDS7855.1 chr11_20897385_20897385_T_A 230C>S Substitution 27% coding Nonsynonymous PGDX140 NEUROD1 neurogenic differentiation 1 CCDS2283.1 chr2_182250860_182250860_G_C 325R>G Substitution 57% coding Nonsynonymous PGDX140 NKPD1 NTPase; KAP family P-loop domain containing 1 CCDS42577.1 chr19_50348001_50348001_C_T 290A>T Substitution 91% coding PGDX140 NKX2-3 NK2 transcription factor related; locus 3 (Drosophila) CCDS41558.1 chr10_101282948_101282950_CAC_ NA Deletion In-frame deletion 16% Nonsynonymous PGDX140 NLRP12 NLR family; pyrin domain containing 12 CCDS12864.1 chr19_58991086_58991086_G_C 979S>R Substitution 25% coding Nonsynonymous PGDX140 NOBOX homeobox protein NOBOX NM_001080413 chr7_143726982_143726982_C_A 371G>V Substitution 41% coding Nonsynonymous PGDX140 NOL8 nucleolar protein 8 NM_017948 chr9_94116545_94116545_G_A 728S>F Substitution 33% coding Nonsynonymous PGDX140 NPM3 nucleophosmin/nucleoplasmin 3 CCDS7519.1 chr10_103531572_103531572_C_T 150E>K Substitution 56% coding Nonsynonymous PGDX140 NPY5R neuropeptide Y receptor Y5 CCDS3804.1 chr4_164491576_164491576_T_C 234V>A Substitution 59% coding Nonsynonymous PGDX140 NTRK1 neurotrophic tyrosine kinase; receptor; type 1 CCDS1161.1 chr1_155115776_155115776_C_T 682R>C Substitution 22% coding Nonsynonymous PGDX140 NTRK3 neurotrophic tyrosine kinase; receptor; type 3 CCDS32322.1 chr15_86470587_86470587_C_T 439A>T Substitution 88% coding PGDX140 NUP107 nucleoporin 107kDa CCDS8985.1 chr12_67415394_67415394_A_G NA Substitution Splice site 12% Nonsynonymous PGDX140 NXF4 nuclear RNA export factor 4 pseudogene ENST00000360035 chrX_101708161_101708161_G_T 246K>N Substitution 92% coding Nonsynonymous PGDX140 OGDHL oxoglutarate dehydrogenase-like CCDS7234.1 chr10_50622081_50622081_C_G 609S>T Substitution 59% coding Nonsynonymous PGDX140 OR10A3 olfactory receptor; family 10; subfamily A; member 3 CCDS31421.1 chr11_7917197_7917197_C_A 149W>C Substitution 51% coding Nonsynonymous PGDX140 OR13G1 olfactory receptor; family 13; subfamily G; member 1 CCDS31094.1 chr1_245902242_245902242_A_T 242L>H Substitution 26% coding Nonsynonymous PGDX140 OR2T1 olfactory receptor; family 2; subfamily T; member 1 CCDS31115.1 chr1_246636916_246636916_C_A 333P>H Substitution 32% coding Nonsynonymous PGDX140 OR2T8 olfactory receptor; family 2; subfamily T; member 8 CCDS31100.1 chr1_246151844_246151844_G_A 301R>K Substitution 37% coding Nonsynonymous PGDX140 OR4A16 olfactory receptor; family 4; subfamily A; member 16 CCDS31499.1 chr11_54867976_54867976_A_G 242I>V Substitution 41% coding Nonsynonymous PGDX140 OR4C6 olfactory receptor; family 4; subfamily C; member 6 CCDS31506.1 chr11_55190077_55190077_C_A 287L>M Substitution 36% coding Nonsynonymous PGDX140 OR4K13 olfactory receptor; family 4; subfamily K; member 13 CCDS32028.1 chr14_19572372_19572372_G_A 129P>L Substitution 65% coding Nonsynonymous PGDX140 OR4K17 olfactory receptor; family 4; subfamily K; member 17 CCDS32030.1 chr14_19655805_19655805_C_A 134L>I Substitution 15% coding Nonsynonymous PGDX140 OR4M1 olfactory receptor; family 4; subfamily M; member 1 CCDS32021.1 chr14_19318554_19318554_C_A 78A>D Substitution 11% coding Nonsynonymous PGDX140 OR4M2 olfactory receptor; family 4; subfamily M; member 2 CCDS32172.1 chr15_19870796_19870796_C_A 286P>H Substitution 20% coding Nonsynonymous PGDX140 OR51E2 olfactory receptor; family 51; subfamily E; member 2 CCDS7751.1 chr11_4659704_4659704_G_T 272R>S Substitution 50% coding Nonsynonymous PGDX140 OR51G1 olfactory receptor; family 51; subfamily G; member 1 CCDS31366.1 chr11_4901239_4901239_G_T 303Q>K Substitution 56% coding Nonsynonymous PGDX140 OR5J2 olfactory receptor; family 5; subfamily J; member 2 CCDS31522.1 chr11_55701129_55701129_G_C 154V>L Substitution 48% coding Nonsynonymous PGDX140 OR5L1 olfactory receptor; family 5; subfamily L; member 1 CCDS31509.1 chr11_55336089_55336089_G_C 191D>H Substitution 38% coding Nonsynonymous PGDX140 OR8D2 olfactory receptor; family 8; subfamily D; member 2 CCDS31707.1 chr11_123695069_123695069_G_T 79P>T Substitution 68% coding Nonsynonymous PGDX140 OR8J1 olfactory receptor; family 8; subfamily J; member 1 CCDS31529.1 chr11_55885016_55885016_A_G 240T>A Substitution 46% coding PGDX140 OSBPL8 oxysterol binding protein-like 8 ENST00000393250 chr12_75379350_75379350_C_A 2E>X Substitution Nonsense 91% Nonsynonymous PGDX140 OVCH1 ovochymase 1 NM_183378 chr12_29516059_29516059_C_A 600C>F Substitution 90% coding Nonsynonymous PGDX140 OVCH1 ovochymase 1 NM_183378 chr12_29499500_29499500_C_T 796V>I Substitution 91% coding PGDX140 PANK1 pantothenate kinase 1 CCDS31244.1 chr10_91343644_91343644_T_A 465K>X Substitution Nonsense 15% Nonsynonymous PGDX140 PAPD5 PAP-associated domain-containing protein 5 isoform a NM_001040284 chr16_48819350_48819350_C_G 619Q>E Substitution 21% coding Nonsynonymous PGDX140 PAPPA pregnancy-associated plasma protein A; pappalysin 1 CCDS6813.1 chr9_117989266_117989266_A_T 143K>I Substitution 57% coding Nonsynonymous PGDX140 PCBP3OT. Uncharacterized protein ENST00000400302 chr21_46162755_46162755_T_C 62S>P Substitution 22% coding Nonsynonymous PGDX140 PCDH11Y protocadherin 11 Y-linked CCDS14777.1 chrY_5027312_5027312_G_A 565E>K Substitution 95% coding Nonsynonymous PGDX140 PCDH17 protocadherin 17 CCDS31986.1 chr13_57105987_57105987_G_T 436D>Y Substitution 86% coding Nonsynonymous PGDX140 PCDHB16 protocadherin beta 16 CCDS4251.1 chr5_140542472_140542472_C_A 52L>M Substitution 28% coding Nonsynonymous PGDX140 PCDHB4 protocadherin beta 4 CCDS4246.1 chr5_140481830_140481830_G_T 22L>F Substitution 36% coding Nonsynonymous PGDX140 PCDHB6 protocadherin beta 6 CCDS4248.1 chr5_140511124_140511124_G_A 368V>I Substitution 27% coding Nonsynonymous PGDX140 PCDHB8 protocadherin beta 8 CCDS4250.1 chr5_140538011_140538011_G_A 71G>E Substitution 27% coding Nonsynonymous PGDX140 PCDHGB6 protocadherin gamma-B6 isoform 1 precursor NM_018926 chr5_140768986_140768986_C_T 345P>S Substitution 23% coding Nonsynonymous PGDX140 PCSK1 proprotein convertase subtilisin/kexin type 1 CCDS4081.1 chr5_95754478_95754478_G_C 749L>V Substitution 46% coding Nonsynonymous PGDX140 PDE1B phosphodiesterase 1B; calmodulin-dependent CCDS8882.1 chr12_53253686_53253686_G_T 330M>I Substitution 84% coding Nonsynonymous PGDX140 PEAR1 platelet endothelial aggregation receptor 1 CCDS30892.1 chr1_155140370_155140370_C_T 10L>F Substitution 19% coding Nonsynonymous PGDX140 PGM5 phosphoglucomutase 5 CCDS6622.2 chr9_70334309_70334309_C_A 541L>M Substitution 23% coding Nonsynonymous PGDX140 PHF3 PHD finger protein 3 CCDS4966.1 chr6_64452333_64452333_C_T 251H>Y Substitution 60% coding Nonsynonymous PGDX140 PIGW phosphatidylinositol glycan anchor biosynthesis; class W CCDS11313.1 chr17_31967857_31967857_C_T 265A>V Substitution 24% coding PGDX140 PLA2G15 phospholipase A2; group XV CCDS10864.1 chr16_66846682_66846682_A_G NA Substitution Splice site 18% Nonsynonymous PGDX140 PLD5 phospholipase D family; member 5 CCDS1621.1 chr1_240518300_240518300_G_T 69P>Q Substitution 42% coding Nonsynonymous PGDX140 PLOD1 procollagen-lysine 1; 2-oxoglutarate 5-dioxygenase 1 CCDS142.1 chr1_11946899_11946899_A_T 428Y>F Substitution 47% coding Nonsynonymous PGDX140 PLOD3 procollagen-lysine; 2-oxoglutarate 5-dioxygenase 3 CCDS5715.1 chr7_100646431_100646431_C_G 106M>I Substitution 23% coding Nonsynonymous PGDX140 PNLIPRP3 pancreatic lipase-related protein 3 CCDS31292.1 chr10_118186348_118186348_A_T 62H>L Substitution 40% coding Nonsynonymous PGDX140 PNPLA1 patatin-like phospholipase domain containing 1 CCDS34438.1 chr6_36370117_36370117_C_A 131A>D Substitution 54% coding Nonsynonymous PGDX140 PRDM9 PR domain containing 9 CCDS43307.1 chr5_23545881_23545881_C_G 97P>A Substitution 30% coding Nonsynonymous PGDX140 PRDM9 PR domain containing 9 CCDS43307.1 chr5_23545882_23545882_C_A 97P>H Substitution 31% coding Nonsynonymous PGDX140 PRKD1 protein kinase D1 CCDS9637.1 chr14_29202733_29202733_C_A 207V>F Substitution 15% coding Nonsynonymous PGDX140 PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) CCDS13550.1 chr20_62096855_62096855_G_T 194G>V Substitution 85% coding Nonsynonymous PGDX140 PSAPL1 proactivator polypeptide-like 1 preproprotein NM_001085382 chr4_7487322_7487322_C_T 62C>Y Substitution 56% coding Nonsynonymous PGDX140 PTCHD3 patched domain containing 3 NM_001034842 chr10_27742830_27742830_A_T 119L>Q Substitution 92% coding Nonsynonymous PGDX140 PTPRC protein tyrosine phosphatase; receptor type; C CCDS1397.1 chr1_196938275_196938275_C_A 190N>K Substitution 45% coding PGDX140 RARB retinoic acid receptor; beta CCDS2642.1 chr3_25610175_25610175_C_T 322L>F Substitution Nonsynonymous 14% coding Nonsynonymous PGDX140 RASGEF1A RasGEF domain family; member 1A CCDS7202.2 chr10_43013476_43013476_G_T 402N>K Substitution 54% coding Nonsynonymous PGDX140 RASGEF1B RasGEF domain family; member 1B CCDS34022.1 chr4_82596891_82596891_G_A 126R>W Substitution 20% coding Nonsynonymous PGDX140 RBBP6 retinoblastoma binding protein 6 CCDS10621.1 chr16_24487725_24487725_G_C 738R>T Substitution 19% coding Nonsynonymous PGDX140 RBM46 RNA binding motif protein 46 CCDS3790.1 chr4_155939461_155939461_C_A 233Q>K Substitution 56% coding Nonsynonymous PGDX140 RBP3 retinol binding protein 3; interstitial CCDS7218.1 chr10_48008984_48008984_G_C 634Q>E Substitution 23% coding Nonsynonymous PGDX140 RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) CCDS32104.1 chr14_67227634_67227634_T_C 144M>V Substitution 18% coding PGDX140 RELN reelin CCDS34722.1 chr7_103068273_103068273_A_T 674C>X Substitution Nonsense 13% PGDX140 REV1 REV1 homolog (S. cerevisiae) CCDS2045.1 chr2_99421803_99421805_GGT_ NA Deletion In-frame deletion 13% Nonsynonymous PGDX140 RGS18 regulator of G-protein signaling 18 CCDS1374.1 chr1_190420243_190420243_G_C 215R>P Substitution 19% coding Nonsynonymous PGDX140 RNASE11 ribonuclease; RNase A family; 11 (non-active) CCDS9553.1 chr14_20121981_20121981_G_T 165Q>K Substitution 19% coding Nonsynonymous PGDX140 RNF17 ring finger protein 17 CCDS9308.2 chr13_24316109_24316109_G_C 944S>T Substitution 82% coding Nonsynonymous PGDX140 ROCK1 Rho-associated; coiled-coil containing protein kinase 1 CCDS11870.2 chr18_16854164_16854164_T_C 436E>G Substitution 79% coding RP5- Nonsynonymous PGDX140 Uncharacterized protein CCDS13049.1 chr20_3094981_3094981_G_A 162S>L Substitution 32% 1187M17.10 coding Nonsynonymous PGDX140 RSPH9 radial spoke head 9 homolog (Chlamydomonas) CCDS4905.1 chr6_43726174_43726174_G_T 104M>I Substitution 32% coding runt-related transcription factor 1; translocated to; 1 (cyclin D- PGDX140 RUNX1T1 CCDS6256.1 chr8_93073230_93073230_G_T 268C>X Substitution Nonsense 12% related) Nonsynonymous PGDX140 RXFP3 relaxin/insulin-like family peptide receptor 3 CCDS3900.1 chr5_33973950_33973950_C_A 450P>T Substitution 53% coding Nonsynonymous PGDX140 RYR2 ryanodine receptor 2 NM_001035 chr1_235780509_235780509_C_A 1037L>I Substitution 30% coding Nonsynonymous PGDX140 RYR2 ryanodine receptor 2 NM_001035 chr1_235861359_235861359_G_A 2150M>I Substitution 35% coding Nonsynonymous PGDX140 RYR2 ryanodine receptor 2 NM_001035 chr1_235868352_235868352_G_T 2289G>W Substitution 35% coding PGDX140 RYR2 ryanodine receptor 2 NM_001035 chr1_235989698_235989698_G_T NA Substitution Splice site 47% Nonsynonymous PGDX140 SAE1 SUMO1 activating enzyme subunit 1 CCDS12696.1 chr19_52350288_52350288_C_G 202S>C Substitution 84% coding Nonsynonymous PGDX140 SAP130 Sin3A-associated protein; 130kDa CCDS2153.1 chr2_128429244_128429244_C_T 727M>I Substitution 34% coding PGDX140 SARDH sarcosine dehydrogenase CCDS6978.1 chr9_135521690_135521690_G_ NA Deletion Frameshift 50% Nonsynonymous PGDX140 SCGB1D4 secretoglobin; family 1D; member 4 CCDS31583.1 chr11_61821686_61821686_C_A 26A>S Substitution 45% coding PGDX140 SCP2 sterol carrier protein 2 CCDS572.1 chr1_53286117_53286117_G_C NA Substitution Splice site 51% PGDX140 SEC31A SEC31 homolog A (S. cerevisiae) CCDS3596.1 chr4_83982444_83982446_AGG_ NA Deletion In-frame deletion 16% Nonsynonymous PGDX140 SETD5 SET domain containing 5 NM_001080517 chr3_9457215_9457215_G_C 215D>H Substitution 24% coding Nonsynonymous PGDX140 SGOL2 shugoshin-like 2 (S. pombe) CCDS42796.1 chr2_201148356_201148356_G_A 1237D>N Substitution 15% coding Nonsynonymous PGDX140 SHANK1 SH3 and multiple ankyrin repeat domains 1 CCDS12799.1 chr19_55897559_55897559_A_T 575L>Q Substitution 79% coding Nonsynonymous PGDX140 SHANK3 SH3 and multiple ankyrin repeat domains protein 3 NM_001080420 chr22_49506681_49506681_G_T 1201R>L Substitution 64% coding Nonsynonymous PGDX140 SHPRH SNF2 histone linker PHD RING helicase CCDS43513.1 chr6_146290054_146290054_C_G 1064E>D Substitution 72% coding PGDX140 SI sucrase-isomaltase (alpha-glucosidase) CCDS3196.1 chr3_166192883_166192883_G_T NA Substitution Splice site 99% Nonsynonymous PGDX140 SIM1 single-minded homolog 1 (Drosophila) CCDS5045.1 chr6_100948389_100948389_G_T 422P>H Substitution 96% coding Nonsynonymous PGDX140 SIPA1L3 signal-induced proliferation-associated 1 like 3 CCDS33007.1 chr19_43323780_43323780_C_T 1087P>L Substitution 89% coding solute carrier family 13 (sodium-dependent dicarboxylate Nonsynonymous PGDX140 SLC13A3 CCDS13400.1 chr20_44675716_44675716_G_T 56A>D Substitution 95% transporter); member 3 coding PGDX140 SLC27A2 solute carrier family 27 (fatty acid transporter); member 2 CCDS10133.1 chr15_48284724_48284724_G_C NA Substitution Splice site 20% Nonsynonymous PGDX140 SLC30A7 solute carrier family 30 (zinc transporter); member 7 ENST00000370111 chr1_101210421_101210421_G_C 99R>S Substitution 36% coding Nonsynonymous PGDX140 SLC30A8 solute carrier family 30 (zinc transporter); member 8 CCDS6322.1 chr8_118228436_118228436_T_A 45L>Q Substitution 14% coding PGDX140 SLC36A1 solute carrier family 36 (proton/amino acid symporter); member 1 CCDS4316.1 chr5_150839186_150839186_G_T 368E>X Substitution Nonsense 32% Nonsynonymous PGDX140 SLC4A2 solute carrier family 4; anion exchanger; member 2 CCDS5917.1 chr7_150403441_150403441_A_C 1072S>R Substitution 37% coding Nonsynonymous PGDX140 SLC6A17 solute carrier family 6; member 17 CCDS30799.1 chr1_110542339_110542339_C_A 645S>Y Substitution 51% coding Nonsynonymous PGDX140 SLC8A1 solute carrier family 8; member 1 CCDS1806.1 chr2_40510423_40510423_G_C 168P>A Substitution 66% coding Nonsynonymous PGDX140 SLC9A10 solute carrier family 9; member 10 CCDS33817.1 chr3_113405892_113405892_C_T 679E>K Substitution 82% coding Nonsynonymous PGDX140 SLITRK3 SLIT and NTRK-like family; member 3 CCDS3197.1 chr3_166391258_166391258_G_A 19L>F Substitution 66% coding Nonsynonymous PGDX140 SLITRK3 SLIT and NTRK-like family; member 3 CCDS3197.1 chr3_166388798_166388798_G_A 839H>Y Substitution 17% coding Nonsynonymous PGDX140 SNED1 sushi; nidogen and EGF-like domains 1 NM_001080437 chr2_241636491_241636491_G_A 454E>K Substitution 75% coding Nonsynonymous PGDX140 SNPH syntaphilin CCDS13012.1 chr20_1234203_1234203_G_C 330E>D Substitution 89% coding Nonsynonymous PGDX140 SNPH syntaphilin CCDS13012.1 chr20_1234070_1234070_G_C 286R>P Substitution 85% coding PGDX140 SNX19 sorting nexin 19 CCDS31721.1 chr11_130289367_130289367_T_A NA Substitution Splice site 72% Nonsynonymous PGDX140 SPOCK1 sparc/osteonectin; cwcv and kazal-like domains proteoglycan 1 CCDS4191.1 chr5_136352130_136352130_T_A 270N>Y Substitution 44% coding Nonsynonymous PGDX140 SPOPL speckle-type POZ protein-like CCDS33298.1 chr2_139033207_139033207_A_T 209Q>L Substitution 22% coding Nonsynonymous PGDX140 ST3GAL4 ST3 beta-galactoside alpha-2;3-sialyltransferase 4 CCDS8474.1 chr11_125782091_125782091_G_T 45G>C Substitution 20% coding Nonsynonymous PGDX140 STK19 Serine/threonine-protein kinase 19 CCDS4733.1 chr6_32054738_32054738_A_T 216E>V Substitution 52% coding Nonsynonymous PGDX140 STOX1 storkhead box 1 CCDS41535.1 chr10_70316093_70316093_G_T 845Q>H Substitution 30% coding Nonsynonymous PGDX140 STOX1 storkhead box 1 CCDS41535.1 chr10_70316094_70316094_G_T 846A>S Substitution 29% coding PGDX140 STRN striatin; calmodulin binding protein CCDS1784.1 chr2_36958591_36958591_C_A 424G>X Substitution Nonsense 18% Nonsynonymous PGDX140 SYCP2L synaptonemal complex protein 2-like CCDS43423.1 chr6_11002364_11002364_C_G 93L>V Substitution 29% coding Nonsynonymous PGDX140 TACC3 transforming; acidic coiled-coil containing protein 3 CCDS3352.1 chr4_1716504_1716504_G_T 828C>F Substitution 44% coding TAF6 RNA polymerase II; TATA box binding protein-associated Nonsynonymous PGDX140 TAF6 CCDS5686.1 chr7_99549235_99549235_C_G 113D>H Substitution 33% factor coding PGDX140 TAS2R16 taste receptor; type 2; member 16 CCDS5785.1 chr7_122422566_122422566_C_T 120W>X Substitution Nonsense 60% Nonsynonymous PGDX140 TDP2 tyrosyl-DNA phosphodiesterase 2 CCDS4557.1 chr6_24759124_24759124_G_T 320F>L Substitution 19% coding Nonsynonymous PGDX140 TDRD5 tudor domain containing 5 CCDS1332.1 chr1_177887936_177887936_A_G 714E>G Substitution 23% coding Nonsynonymous PGDX140 TEP1 telomerase-associated protein 1 CCDS9548.1 chr14_19942629_19942629_T_C 338Q>R Substitution 71% coding Nonsynonymous PGDX140 THADA thyroid adenoma associated NM_001083953 chr2_43372816_43372816_G_A 1623T>M Substitution 63% coding Nonsynonymous PGDX140 TLR4 toll-like receptor 4 CCDS6818.1 chr9_119506648_119506648_G_T 26W>L Substitution 52% coding Nonsynonymous PGDX140 TMED7 transmembrane emp24 protein transport domain containing 7 CCDS4119.1 chr5_114944562_114944562_C_A 97Q>H Substitution 40% coding PGDX140 TMPRSS4 transmembrane protease; serine 4 CCDS31684.1 chr11_117493825_117493825_A_T NA Substitution Splice site 61% Nonsynonymous PGDX140 TNNI3K TNNI3 interacting kinase CCDS664.1 chr1_74730523_74730523_C_A 779A>D Substitution 34% coding Nonsynonymous PGDX140 TP53 tumor protein p53 CCDS11118.1 chr17_7518929_7518929_A_C 215S>R Substitution 87% coding PGDX140 TRAF3IP2 TRAF3 interacting protein 2 CCDS5092.1 chr6_111994345_111994345_G_A 500R>X Substitution Nonsense 87% transient receptor potential cation channel; subfamily C; member Nonsynonymous PGDX140 TRPC1 CCDS3126.1 chr3_143926126_143926126_C_T 12S>L Substitution 94% 1 coding Nonsynonymous PGDX140 TRPC7 short transient receptor potential channel 7 NM_020389 chr5_135720329_135720329_G_A 216R>C Substitution 46% coding transient receptor potential cation channel; subfamily M; member Nonsynonymous PGDX140 TRPM8 CCDS33407.1 chr2_234527334_234527334_C_A 392T>K Substitution 53% 8 coding Nonsynonymous PGDX140 TRPS1 trichorhinophalangeal syndrome I CCDS6318.2 chr8_116668405_116668405_G_C 900R>G Substitution 43% coding PGDX140 TTC26 tetratricopeptide repeat domain 26 CCDS5852.1 chr7_138483490_138483490_A_T NA Substitution Splice site 40% PGDX140 TTC39B tetratricopeptide repeat domain 39B CCDS6477.1 chr9_15182650_15182650_G_A 224Q>X Substitution Nonsense 36% Nonsynonymous PGDX140 UBR5 ubiquitin protein ligase E3 component n-recognin 5 CCDS34933.1 chr8_103358488_103358488_C_T 2133E>K Substitution 14% coding Nonsynonymous PGDX140 UBR5 ubiquitin protein ligase E3 component n-recognin 5 CCDS34933.1 chr8_103366534_103366534_C_T 1898R>K Substitution 11% coding Nonsynonymous PGDX140 UBR5 ubiquitin protein ligase E3 component n-recognin 5 CCDS34933.1 chr8_103367962_103367962_C_T 1673D>N Substitution 15% coding Nonsynonymous PGDX140 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 CCDS2154.1 chr2_128633663_128633663_C_G 821Q>E Substitution 20% coding Nonsynonymous PGDX140 UGT1A6 UDP glucuronosyltransferase 1 family; polypeptide A6 CCDS33405.1 chr2_234292378_234292378_C_A 58A>E Substitution 20% coding Nonsynonymous PGDX140 VCAN versican CCDS4060.1 chr5_82871521_82871521_G_T 2315V>L Substitution 45% coding Nonsynonymous PGDX140 WDFY3 WD repeat and FYVE domain containing 3 CCDS3609.1 chr4_85895526_85895526_C_G 1826G>R Substitution 42% coding Nonsynonymous PGDX140 WDR17 WD repeat domain 17 CCDS3825.1 chr4_177283308_177283308_G_C 224D>H Substitution 60% coding Nonsynonymous PGDX140 WDR85 WD repeat domain 85 CCDS7047.1 chr9_139588583_139588583_C_T 180E>K Substitution 34% coding Nonsynonymous PGDX140 WDR85 WD repeat domain 85 CCDS7047.1 chr9_139591786_139591786_C_T 82E>K Substitution 30% coding Nonsynonymous PGDX140 WIPF1 WAS/WASL interacting protein family; member 1 CCDS2260.1 chr2_175135534_175135534_G_A 500P>L Substitution 49% coding PGDX140 WNK2 WNK lysine deficient protein kinase 2 NM_006648 chr9_95058492_95058492_G_ NA Deletion Frameshift 38% Nonsynonymous PGDX140 WNT9B wingless-type MMTV integration site family; member 9B CCDS11506.1 chr17_42308668_42308668_C_A 220A>D Substitution 20% coding Nonsynonymous PGDX140 XIRP2 xin actin-binding repeat containing 2 CCDS42769.1 chr2_167814363_167814363_G_C 2739D>H Substitution 27% coding Nonsynonymous PGDX140 XPO1 exportin 1 (CRM1 homolog; yeast) CCDS33205.1 chr2_61580514_61580514_G_T 143P>H Substitution 63% coding Nonsynonymous PGDX140 ZC3H6 zinc finger CCCH-type containing 6 NM_198581 chr2_112805332_112805332_G_C 789R>T Substitution 27% coding Nonsynonymous PGDX140 ZCCHC24 zinc finger; CCHC domain containing 24 CCDS7359.1 chr10_80824113_80824113_C_A 179W>C Substitution 51% coding PGDX140 ZDHHC19 zinc finger; DHHC-type containing 19 CCDS43190.1 chr3_197421989_197421989_G_A 55Q>X Substitution Nonsense 31% Nonsynonymous PGDX140 ZFHX4 zinc finger homeobox protein 4 NM_024721 chr8_77928589_77928589_G_C 2248D>H Substitution 57% coding PGDX140 ZFHX4 zinc finger homeobox protein 4 NM_024721 chr8_77926795_77926795_C_T 1650Q>X Substitution Nonsense 16% PGDX140 ZFPM2 zinc finger protein; multitype 2 NM_012082 chr8_106642842_106642842_G_ NA Deletion Frameshift 11% Nonsynonymous PGDX140 ZIM2 zinc finger; imprinted 2 CCDS12948.1 chr19_62017685_62017685_A_C 1313S>A Substitution 88% coding Nonsynonymous PGDX140 ZNF324 zinc finger protein 324 CCDS12981.1 chr19_63675289_63675289_C_T 540P>S Substitution 27% coding Nonsynonymous PGDX140 ZNF335 zinc finger protein 335 CCDS13389.1 chr20_44011387_44011387_C_T 1271E>K Substitution 55% coding Nonsynonymous PGDX140 ZNF33A zinc finger protein 33A CCDS31182.1 chr10_38383861_38383861_C_T 267S>F Substitution 27% coding Nonsynonymous PGDX140 ZNF423 zinc finger protein 423 CCDS32445.1 chr16_48229345_48229345_C_A 407V>L Substitution 22% coding Nonsynonymous PGDX140 ZNF423 zinc finger protein 423 CCDS32445.1 chr16_48229346_48229346_C_A 406K>N Substitution 25% coding PGDX140 ZNF622 zinc finger protein 622 CCDS3886.1 chr5_16518492_16518492_C_A 95E>X Substitution Nonsense 37% Nonsynonymous PGDX140 ZNF638 zinc finger protein 638 CCDS1917.1 chr2_71507655_71507655_G_T 1716R>S Substitution 20% coding Nonsynonymous PGDX140 ZNF704 zinc finger protein 704 CCDS34913.1 chr8_81739769_81739769_G_A 255P>S Substitution 41% coding Nonsynonymous PGDX140 ZNF831 zinc finger protein 831 CCDS42894.1 chr20_57202962_57202962_C_T 1165R>C Substitution 46% coding PGDX140 ZW10 ZW10; kinetochore associated; homolog (Drosophila) CCDS8363.1 chr11_113115316_113115316_T_C NA Substitution Splice site 75% Nonsynonymous PGDX17X ABCD4 ATP-binding cassette; sub-family D (ALD); member 4 CCDS9828.1 chr14_73824274_73824274_T_A 543K>M Substitution 26% coding Nonsynonymous PGDX17X ADCY3 adenylate cyclase 3 CCDS1715.1 chr2_24914868_24914868_A_T 495S>T Substitution 45% coding Nonsynonymous PGDX17X AKAP8 A kinase (PRKA) anchor protein 8 CCDS12329.1 chr19_15345705_15345705_T_C 88N>S Substitution 43% coding Nonsynonymous PGDX17X ALPL alkaline phosphatase; liver/bone/kidney CCDS217.1 chr1_21776636_21776636_G_A 495G>S Substitution 53% coding Nonsynonymous PGDX17X ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 CCDS32686.1 chr17_51786368_51786368_G_A 191R>K Substitution 61% coding PGDX17X ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 CCDS13411.1 chr20_47067210_47067210_C_T 1445R>X Substitution Nonsense 64% Nonsynonymous PGDX17X ARID4B AT rich interactive domain 4B (RBP1-like) CCDS31061.1 chr1_233398500_233398500_C_G 1301S>T Substitution 44% coding Nonsynonymous PGDX17X ATP2B3 ATPase; Ca++ transporting; plasma membrane 3 CCDS35440.1 chrX_152476858_152476858_G_A 843R>H Substitution 24% coding PGDX17X C3orf26 chromosome 3 open reading frame 26 CCDS2935.1 chr3_101369375_101369375_G_T NA Substitution Splice Site 22% Nonsynonymous PGDX17X CD6 CD6 molecule CCDS7999.1 chr11_60533670_60533670_G_T 278V>L Substitution 36% coding Nonsynonymous PGDX17X CRHR2 corticotropin releasing hormone receptor 2 CCDS5429.1 chr7_30688391_30688391_C_T 11E>K Substitution 16% coding Nonsynonymous PGDX17X CTNNA2 catenin (cadherin-associated protein); alpha 2 CCDS42703.1 chr2_79938721_79938721_C_T 125R>W Substitution 43% coding Nonsynonymous PGDX17X CTSO cathepsin O CCDS3794.1 chr4_157082921_157082921_T_A 128M>L Substitution 54% coding PGDX17X CUX1 cut-like homeobox 1 CCDS5721.1 chr7_101678443_101678443_G_T 1307E>X Substitution Nonsense 22% Nonsynonymous PGDX17X DLG3 discs; large homolog 3 CCDS14403.1 chrX_69586879_69586879_C_T 280A>V Substitution 37% coding Nonsynonymous PGDX17X DLGAP3 discs; large homolog-associated protein 3 CCDS30670.1 chr1_35143261_35143261_T_A 104D>V Substitution 35% coding Nonsynonymous PGDX17X DNAJA1 DnaJ (Hsp40) homolog; subfamily A; member 1 CCDS6533.1 chr9_33019955_33019955_T_G 128L>R Substitution 13% coding PGDX17X DTNBP1 dystrobrevin binding protein 1 CCDS4534.1 chr6_15641608_15641608_G_A NA Substitution Splice Site 33% Nonsynonymous PGDX17X EIF1 eukaryotic translation initiation factor 1 CCDS11403.1 chr17_37100591_37100591_T_C 110V>A Substitution 18% coding Nonsynonymous PGDX17X GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 CCDS4663.1 chr6_29689207_29689207_C_A 453R>L Substitution 14% coding PGDX17X GLIS1 GLIS family zinc finger 1 CCDS582.1 chr1_53832725_53832725_G_A 147Q>X Substitution Nonsense 48% Nonsynonymous PGDX17X GRM7 glutamate receptor; metabotropic 7 CCDS43042.1 chr3_6878272_6878272_C_T 66P>L Substitution 56% coding Nonsynonymous PGDX17X HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 CCDS11165.1 chr17_13340592_13340592_T_G 290I>L Substitution 20% coding Nonsynonymous PGDX17X HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 CCDS11165.1 chr17_13340666_13340666_G_C 265T>S Substitution 11% coding Nonsynonymous PGDX17X IGBP1 immunoglobulin (CD79A) binding protein 1 CCDS14396.1 chrX_69283381_69283381_G_A 219R>K Substitution 10% coding Nonsynonymous PGDX17X IGBP1 immunoglobulin (CD79A) binding protein 1 CCDS14396.1 chrX_69283387_69283387_G_A 221R>K Substitution 12% coding Nonsynonymous PGDX17X KIAA1211 KIAA1211 CCDS43230.1 chr4_56876403_56876403_A_T 660S>C Substitution 49% coding Nonsynonymous PGDX17X KIDINS220 kinase D-interacting substrate; 220kDa CCDS42650.1 chr2_8837317_8837317_C_A 770V>L Substitution 39% coding Nonsynonymous PGDX17X LRBA LPS-responsive vesicle trafficking; beach and anchor containing CCDS3773.1 chr4_152061882_152061882_C_T 188G>E Substitution 36% coding PGDX17X MCM2 minichromosome maintenance complex component 2 CCDS3043.1 chr3_128806149_128806149_G_A 82R>H Substitution Nonsynonymous 59% coding Nonsynonymous PGDX17X MMS19 MMS19 nucleotide excision repair homolog NM_022362 chr10_99209231_99209231_C_T 928V>M Substitution 62% coding PGDX17X OR51T1 olfactory receptor; family 51; subfamily T; member 1 CCDS31363.1 chr11_4860163_4860163_G_ NA Deletion Frameshift 38% Nonsynonymous PGDX17X PCDHA9 protocadherin alpha 9 CCDS34254.1 chr5_140208433_140208433_G_A 57A>T Substitution 15% coding Nonsynonymous PGDX17X PCDHB12 protocadherin beta 12 CCDS4254.1 chr5_140569459_140569459_G_C 266A>P Substitution 35% coding Nonsynonymous PGDX17X PHACTR1 phopshatase and actin regulator 1 NM_030948 chr6_13336249_13336249_A_T 403E>D Substitution 33% coding PGDX17X PIK3R6 phosphoinositide-3-kinase; regulatory subunit 6 ENST00000311434 chr17_8673781_8673781__T NA Insertion Frameshift 60% Nonsynonymous PGDX17X PLCE1 phospholipase C; epsilon 1 CCDS41552.1 chr10_95995916_95995916_C_T 882L>F Substitution 35% coding Nonsynonymous PGDX17X PLXNA2 plexin A2 CCDS31013.1 chr1_206285869_206285869_G_C 1158P>A Substitution 24% coding Nonsynonymous PGDX17X PPP1CC protein phosphatase 1; catalytic subunit; gamma isozyme CCDS9150.1 chr12_109644692_109644692_G_T 239H>N Substitution 11% coding PGDX17X PRKD1 protein kinase D1 CCDS9637.1 chr14_29177518_29177518_T_ NA Deletion Frameshift 33% Nonsynonymous PGDX17X PRSS58 protease serine 58 CCDS5871.1 chr7_141598849_141598849_C_T 166R>H Substitution 69% coding PGDX17X PTGS1 prostaglandin-endoperoxide synthase 1 CCDS6842.1 chr9_124194297_124194297_G_T 485E>X Substitution Nonsense 23% PGDX17X PTPRC protein tyrosine phosphatase; receptor type; C CCDS1397.1 chr1_196932463_196932463_G_A NA Substitution Splice Site 46% PGDX17X PTPRC protein tyrosine phosphatase; receptor type; C CCDS1397.1 chr1_196977779_196977779_G_T NA Substitution Splice Site 43% Nonsynonymous PGDX17X PXDN peroxidasin homolog NM_012293 chr2_1666861_1666861_C_A 162R>S Substitution 42% coding PGDX17X PYGM phosphorylase; glycogen; muscle CCDS8079.1 chr11_64274542_64274542_C_ NA Deletion Frameshift 16% Nonsynonymous PGDX17X RABL3 RAB; member of RAS oncogene family-like 3 CCDS3001.1 chr3_121943999_121943999_C_T 16G>S Substitution 60% coding PGDX17X RBMX RNA binding motif protein; X-linked CCDS14661.1 chrX_135789253_135789253_G_C NA Substitution UTR 19% Nonsynonymous PGDX17X SHPRH SNF2 histone linker PHD RING helicase CCDS43513.1 chr6_146306076_146306076_G_A 712P>S Substitution 28% coding PGDX17X SLC22A7 solute carrier family 22 (organic anion transporter); member 7 CCDS4893.2 chr6_43380403_43380403_C_T 537Q>X Substitution Nonsense 99% Nonsynonymous PGDX17X SLC34A2 solute carrier family 34 (sodium phosphate); member 2 CCDS3435.1 chr4_25282424_25282424_A_C 344K>T Substitution 46% coding Nonsynonymous PGDX17X SLC9A9 solute carrier family 9 ; member 9 CCDS33872.1 chr3_144468353_144468353_G_T 607L>M Substitution 65% coding Nonsynonymous PGDX17X SLU7 SLU7 splicing factor homolog CCDS4352.1 chr5_159768020_159768020_T_C 238E>G Substitution 40% coding Nonsynonymous PGDX17X SNX11 sorting nexin 11 CCDS11526.1 chr17_43551137_43551137_A_T 101Q>H Substitution 80% coding Nonsynonymous PGDX17X ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2;8-sialyltransferase 3 CCDS32834.1 chr18_53175521_53175521_C_A 228R>S Substitution 41% coding Nonsynonymous PGDX17X SULT1C3 sulfotransferase family; cytosolic; 1C; member 3 CCDS33267.1 chr2_108230108_108230108_C_T 9P>L Substitution 46% coding PGDX17X TCHHL1 trichohyalin-like 1 CCDS30857.1 chr1_150325779_150325779_C_A 335E>X Substitution Nonsense 73% Nonsynonymous PGDX17X TECPR2 tectonin beta-propeller repeat containing 2 CCDS32162.1 chr14_101985834_101985834_A_T 1064K>M Substitution 27% coding Nonsynonymous PGDX17X TMCO5A transmembrane and coiled-coil domains 5A CCDS10046.1 chr15_36020660_36020660_G_A 136E>K Substitution 32% coding TNNI3 interacting kinase/fucose-1-phosphate guanylyltransferase Nonsynonymous PGDX17X TNNI3K-FPGT CCDS664.1 chr1_74701755_74701755_C_T 685P>L Substitution 39% fusion coding Nonsynonymous PGDX17X TOP2A topoisomerase II alpha NM_001067 chr17_35801317_35801317_T_G 1412K>Q Substitution 28% coding Nonsynonymous PGDX17X TOR1AIP2 torsin A interacting protein 2 CCDS1334.1 chr1_178082376_178082376_T_C 289N>S Substitution 49% coding Nonsynonymous PGDX17X TP53 tumor protein p53 CCDS11118.1 chr17_7518263_7518263_C_A 248R>L Substitution 95% coding Nonsynonymous PGDX17X TPT1 tumor protein; translationally-controlled 1 ENST00000309246 chr13_44810783_44810783_C_A 176R>S Substitution 100% coding Nonsynonymous PGDX17X VANGL1 vang-like 1 CCDS883.1 chr1_116008049_116008049_A_T 150E>V Substitution 56% coding Nonsynonymous PGDX17X WDFY4 WDFY family member 4 NM_020945 chr10_49695460_49695460_G_C 1835K>N Substitution 32% coding PGDX17X ZNF142 zinc finger protein 142 CCDS42817.1 chr2_219216105_219216106__TA NA Insertion Frameshift 53% Nonsynonymous PGDX17X ZNF536 zinc finger protein 536 CCDS32984.1 chr19_35717690_35717690_G_A 756C>Y Substitution 55% coding PGDX17X ZNF778 zinc finger protein 778 NM_182531 chr16_87821365_87821365_G_T 362E>X Substitution Nonsense 99% Nonsynonymous PGDX24T ACTN2 actinin; alpha 2 CCDS1613.1 chr1_234991052_234991052_G_T 828A>S Substitution 12% coding Nonsynonymous PGDX24T AVPR2 arginine vasopressin receptor 2 CCDS14735.1 chrX_152824377_152824377_C_T 75H>Y Substitution 53% coding Nonsynonymous PGDX24T BBS2 Bardet-Biedl syndrome 2 CCDS32451.1 chr16_55093848_55093848_G_A 321T>M Substitution 52% coding Nonsynonymous PGDX24T BSN bassoon (presynaptic cytomatrix protein) CCDS2800.1 chr3_49655090_49655090_A_G 340E>G Substitution 45% coding Nonsynonymous PGDX24T C9orf84 chromosome 9 open reading frame 84 CCDS6781.3 chr9_113548441_113548441_C_T 261E>K Substitution 42% coding Nonsynonymous PGDX24T COL8A2 collagen; type VIII; alpha 2 CCDS403.1 chr1_36336751_36336751_C_T 373G>E Substitution 46% coding Nonsynonymous PGDX24T CXorf26 chromosome X open reading frame 26 CCDS14432.1 chrX_75309873_75309873_T_A 28S>T Substitution 42% coding PGDX24T DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 CCDS43991.1 chrX_125127402_125127402__A NA Insertion Frameshift 23% PGDX24T ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 CCDS5150.1 chr6_132245174_132245174_T_C NA Substitution Splice site 54% Nonsynonymous PGDX24T FAM169B family with sequence similarity 169; member B ENST00000332908 chr15_96799062_96799062_T_C 4K>E Substitution 50% coding Nonsynonymous PGDX24T FAT4 FAT tumor suppressor homolog 4 CCDS3732.2 chr4_126591444_126591444_G_C 3275D>H Substitution 48% coding Nonsynonymous PGDX24T FAT4 FAT tumor suppressor homolog 4 CCDS3732.2 chr4_126631379_126631379_T_G 4594I>S Substitution 50% coding Nonsynonymous PGDX24T FNBP1 formin binding protein 1 NM_015033 chr9_131692641_131692641_A_T 618X>K Substitution 32% coding PGDX24T HIST1H2BI histone cluster 1; H2bi CCDS4603.1 chr6_26381181_26381181_A_G NA Substitution UTR 49% Nonsynonymous PGDX24T HIST1H3F histone cluster 1; H3f CCDS4600.1 chr6_26358632_26358632_G_C 61L>V Substitution 43% coding Nonsynonymous PGDX24T IGHV2-70 immunoglobulin heavy variable 2-70 ENST00000390634 chr14_106250265_106250265_A_G 15S>P Substitution 22% coding PGDX24T IGLV3-1 immunoglobulin lambda variable 3-1 ENST00000390319 chr22_21553400_21553400_A_G 59K>R Substitution Nonsynonymous 100% coding Nonsynonymous PGDX24T IGLV3-1 immunoglobulin lambda variable 3-1 ENST00000390319 chr22_21553565_21553565_G_A 114S>N Substitution 100% coding PGDX24T IGLV3-16 immunoglobulin lambda variable 3-16 ENST00000390311 chr22_21420227_21420227_C_T 56Q>X Substitution Nonsense 43% Nonsynonymous PGDX24T KLHL6 kelch-like 6 CCDS3245.2 chr3_184755864_184755864_G_C 91A>G Substitution 47% coding Nonsynonymous PGDX24T KLHL6 kelch-like 6 CCDS3245.2 chr3_184755924_184755924_A_G 71L>P Substitution 44% coding PGDX24T LTB lymphotoxin beta CCDS4703.1 chr6_31656921_31656921_T_C NA Substitution Splice site 57% Nonsynonymous PGDX24T MRPL40 mitochondrial ribosomal protein L40 CCDS13760.1 chr22_17803328_17803328_C_A 155P>Q Substitution 54% coding Nonsynonymous PGDX24T MSL2 male-specific lethal 2 homolog CCDS33861.1 chr3_137354017_137354017_C_G 132L>F Substitution 11% coding Nonsynonymous PGDX24T MUC5B mucin 5B, oligomeric mucus/gel forming NM_002458 chr11_1234504_1234504_G_A 5391M>I Substitution 50% coding Nonsynonymous PGDX24T PAPPA2 pappalysin 2 CCDS41438.1 chr1_174975433_174975433_A_G 1283T>A Substitution 59% coding Nonsynonymous PGDX24T RGS8 regulator of G-protein signaling 8 CCDS41443.1 chr1_180905385_180905385_C_T 8R>H Substitution 48% coding PGDX24T SFRS13A splicing factor; arginine/serine-rich 13A CCDS30630.1 chr1_24170672_24170672_T_A 157R>X Substitution Nonsense 10% Nonsynonymous PGDX24T SUPT6H suppressor of Ty 6 homolog CCDS32596.1 chr17_24034416_24034416_G_A 628V>M Substitution 47% coding Nonsynonymous PGDX24T SUPT6H suppressor of Ty 6 homolog CCDS32596.1 chr17_24048812_24048812_G_A 1419M>I Substitution 12% coding Nonsynonymous PGDX24T THOC2 THO complex 2 CCDS43988.1 chrX_122582985_122582985_C_T 1307R>Q Substitution 43% coding Nonsynonymous PGDX24T TRIM56 tripartite motif-containing 56 CCDS43625.1 chr7_100518100_100518100_C_T 263L>F Substitution 47% coding Nonsynonymous PGDX27T C11orf2 chromosome 11 open reading frame 2 CCDS8093.1 chr11_64631666_64631666_G_A 132M>I Substitution 12% coding Nonsynonymous PGDX27T C15orf2 chromosome 15 open reading frame 2 CCDS10015.1 chr15_22473145_22473145_G_T 346W>C Substitution 22% coding Nonsynonymous PGDX27T C6orf25 chromosome 6 open reading frame 25 CCDS4715.1 chr6_31799515_31799515_G_A 61R>Q Substitution 21% coding PGDX27T CASP8 caspase 8; apoptosis-related cysteine peptidase CCDS42799.1 chr2_201842518_201842518_C_T 116Q>X Substitution Nonsense 15% Nonsynonymous PGDX27T CIRBP cold inducible RNA binding protein CCDS12059.1 chr19_1222425_1222425_T_G 103F>C Substitution 32% coding Nonsynonymous PGDX27T COL7A1 collagen; type VII; alpha 1 CCDS2773.1 chr3_48579101_48579101_T_A 2767E>V Substitution 22% coding Nonsynonymous PGDX27T CYLC2 cylicin; basic protein of sperm head cytoskeleton 2 CCDS35085.1 chr9_104807556_104807556_G_C 274K>N Substitution 13% coding Nonsynonymous PGDX27T DIAPH2 diaphanous homolog 2 CCDS14467.1 chrX_96106776_96106776_G_T 655C>F Substitution 53% coding chr7_55209959_55209973_GGAATTAAGAGAA PGDX27T EGFR epidermal growth factor receptor CCDS5514.1 E746_750del Deletion In-frame deletion GC_ Nonsynonymous PGDX27T EIF3D eukaryotic translation initiation factor 3; subunit D CCDS13930.1 chr22_35238558_35238558_G_A 415S>F Substitution 33% coding Nonsynonymous PGDX27T EZH2 enhancer of zeste homolog 2 CCDS5891.1 chr7_148137361_148137361_G_A 695S>L Substitution 12% coding PGDX27T FAF1 Fas (TNFRSF6) associated factor 1 CCDS554.1 chr1_50821949_50821949_C_G 332D>H Substitution Nonsynonymous 15% coding Nonsynonymous PGDX27T GEN1 Gen homolog 1; endonuclease CCDS1691.1 chr2_17813541_17813541_G_A 231G>E Substitution 16% coding PGDX27T HNRNPD heterogeneous nuclear ribonucleoprotein D CCDS3592.1 chr4_83497036_83497036_G_A 264Q>X Substitution Nonsense 27% Nonsynonymous PGDX27T HTT huntingtin CCDS43206.1 chr4_3201524_3201524_A_T 2741Y>F Substitution 16% coding Nonsynonymous PGDX27T IQCF1 IQ motif containing F1 CCDS2836.1 chr3_51912045_51912045_G_T 35A>E Substitution 12% coding Nonsynonymous PGDX27T KCNJ15 potassium inwardly-rectifying channel; subfamily J; member 15 CCDS13656.1 chr21_38593247_38593247_A_T 65Y>F Substitution 24% coding Nonsynonymous PGDX27T LRRTM3 leucine rich repeat transmembrane neuronal 3 CCDS7270.1 chr10_68357865_68357865_G_T 395L>F Substitution 22% coding membrane protein; palmitoylated 4 (MAGUK p55 subfamily Nonsynonymous PGDX27T MPP4 NM_033066 chr2_202265965_202265965_C_G 38E>Q Substitution 14% member 4) coding Nonsynonymous PGDX27T NGEF neuronal guanine nucleotide exchange factor CCDS2500.1 chr2_233493518_233493518_C_T 183R>Q Substitution 22% coding Nonsynonymous PGDX27T NUF2 NUF2; NDC80 kinetochore complex component; homolog CCDS1245.1 chr1_161585420_161585420_C_G 396Q>E Substitution 12% coding Nonsynonymous PGDX27T OPA1 optic atrophy 1 CCDS33917.1 chr3_194859451_194859451_G_A 787E>K Substitution 15% coding Nonsynonymous PGDX27T OR10H3 olfactory receptor; family 10; subfamily H; member 3 CCDS12334.1 chr19_15713398_15713398_G_T 66A>S Substitution 18% coding Nonsynonymous PGDX27T OR12D3 olfactory receptor; family 12; subfamily D; member 3 CCDS4658.1 chr6_29450686_29450686_G_A 120R>C Substitution 24% coding Nonsynonymous PGDX27T OR5L1 olfactory receptor; family 5; subfamily L; member 1 CCDS31509.1 chr11_55336042_55336042_A_C 175N>T Substitution 11% coding Nonsynonymous PGDX27T OR6N1 olfactory receptor; family 6; subfamily N; member 1 CCDS30905.1 chr1_157002221_157002221_C_A 292L>F Substitution 13% coding Nonsynonymous PGDX27T OTOA otoancorin CCDS10600.2 chr16_21637984_21637984_G_C 553K>N Substitution 19% coding PGDX27T P2RX1 purinergic receptor P2X; ligand-gated ion channel; 1 CCDS11040.1 chr17_3754446_3754446_G_A NA Substitution Splice site 35% Nonsynonymous PGDX27T PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 CCDS32479.1 chr16_70241139_70241139_C_T 1043E>K Substitution 11% coding Nonsynonymous PGDX27T PTCD1 pentatricopeptide repeat domain 1 CCDS34691.1 chr7_98860995_98860995_T_C 366T>A Substitution 39% coding Nonsynonymous PGDX27T PTH1R parathyroid hormone 1 receptor ENST00000313063 chr3_46905297_46905297_G_A 7V>I Substitution 12% coding Nonsynonymous PGDX27T RAB18 RAB18; member RAS oncogene family ENST00000375800 chr10_27833956_27833956_C_T 50R>C Substitution 23% coding Nonsynonymous PGDX27T RHOH ras homolog gene family; member H CCDS3458.1 chr4_39921525_39921525_G_C 42G>R Substitution 11% coding Nonsynonymous PGDX27T RIMKLA ribosomal modification protein rimK-like family member A CCDS466.1 chr1_42648415_42648415_G_A 178D>N Substitution 19% coding RP11- Nonsynonymous PGDX27T RP11-863K10.7 ENST00000330539 chr8_37713124_37713124_G_T 17S>Y Substitution 20% 863K10.7 coding Nonsynonymous PGDX27T SGCG sarcoglycan; gamma (35kDa dystrophin-associated glycoprotein) CCDS9299.1 chr13_22675934_22675934_G_A 34R>H Substitution 30% coding PGDX27T SLC35F1 solute carrier family 35; member F1 CCDS34524.1 chr6_118742047_118742047_C_G 389S>X Substitution Nonsense 27% solute carrier family 4; sodium bicarbonate cotransporter; Nonsynonymous PGDX27T SLC4A7 CCDS33721.1 chr3_27428209_27428209_G_C 556S>C Substitution 34% member 7 coding Nonsynonymous PGDX27T SRCAP Snf2-related CREBBP activator protein CCDS10689.2 chr16_30657234_30657234_C_T 2791P>L Substitution 15% coding Nonsynonymous PGDX27T STON2 stonin 2 CCDS9875.1 chr14_80814324_80814324_T_A 362I>F Substitution 24% coding PGDX27T THYN1 thymocyte nuclear protein 1 CCDS8496.1 chr11_133623997_133623997_G_A 183Q>X Substitution Nonsense 26% Nonsynonymous PGDX27T TP53 tumor protein p53 CCDS11118.1 chr17_7518264_7518264_G_A 248R>W Substitution 28% coding Nonsynonymous PGDX27T TPR translocated promoter region (to activated MET oncogene) CCDS41446.1 chr1_184561894_184561894_C_T 1996D>N Substitution 27% coding Nonsynonymous PGDX27T ZFHX2 zinc finger homeobox 2 ENST00000258869 chr14_23064355_23064355_G_A 491P>S Substitution 22% coding Nonsynonymous PGDX27T ZSWIM6 zinc finger, SWIM-type containing 6 NM_020928 chr5_60875490_60875490_C_G 1079S>R Substitution 13% coding PGDX30T ABCA5 ATP-binding cassette; sub-family A (ABC1); member 5 CCDS11685.1 chr17_64820874_64820874_A_ NA Deletion Frameshift 14% Nonsynonymous PGDX30T ABCB1 ATP-binding cassette; sub-family B (MDR/TAP); member 1 CCDS5608.1 chr7_87017985_87017985_T_G 369I>L Substitution 16% coding PGDX30T ACOXL acyl-Co-A oxidase-like NM_001142807 chr2_111591742_111591745_CACG_ NA Deletion Frameshift 13% Nonsynonymous PGDX30T ALPK2 alpha-kinase 2 CCDS11966.2 chr18_54354936_54354936_G_T 1155Q>K Substitution 36% coding Nonsynonymous PGDX30T ANKRD1 ankyrin repeat domain 1 (cardiac muscle) CCDS7412.1 chr10_92667540_92667540_A_G 161C>R Substitution 19% coding Nonsynonymous PGDX30T AP3M2 adaptor-related protein complex 3; mu 2 subunit CCDS6125.1 chr8_42131567_42131567_G_A 69V>M Substitution 27% coding PGDX30T APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 CCDS9550.1 chr14_19993957_19993957__A NA Insertion Frameshift 27% Nonsynonymous PGDX30T APOB apolipoprotein B (including Ag(x) antigen) CCDS1703.1 chr2_21093011_21093011_T_C 1046E>G Substitution 17% coding ATP synthase; H+ transporting; mitochondrial F0 complex; subunit PGDX30T ATP5S CCDS32075.1 chr14_49858988_49858988_T_G 54Y>X Substitution Nonsense 18% s Nonsynonymous PGDX30T ATP6V0C ATPase; H+ transporting; lysosomal 16kDa; V0 subunit c CCDS10470.1 chr16_2509598_2509598_G_A 107G>S Substitution 31% coding Nonsynonymous PGDX30T BAI3 brain-specific angiogenesis inhibitor 3 CCDS4968.1 chr6_69741945_69741945_C_G 576Q>E Substitution 46% coding Nonsynonymous PGDX30T BBS2 Bardet-Biedl syndrome 2 CCDS32451.1 chr16_55094149_55094149_C_T 293V>I Substitution 25% coding Nonsynonymous PGDX30T BCOR BCL6 co-repressor CCDS14250.1 chrX_39817337_39817337_C_T 736E>K Substitution 13% coding Nonsynonymous PGDX30T BICD1 bicaudal D homolog 1 (Drosophila) CCDS8726.1 chr12_32338259_32338259_G_A 164R>Q Substitution 11% coding Nonsynonymous PGDX30T BTAF1 BTAF1 RNA polymerase II; B-TFIID transcription factor-associated CCDS7419.1 chr10_93746167_93746167_A_G 1124H>R Substitution 18% coding Nonsynonymous PGDX30T C10orf128 chromosome 10 open reading frame 128 ENST00000399393 chr10_50046035_50046035_A_G 7S>P Substitution 12% coding Nonsynonymous PGDX30T C20orf26 chromosome 20 open reading frame 26 CCDS33447.1 chr20_20205878_20205878_G_A 858V>M Substitution 13% coding PGDX30T C2orf69 chromosome 2 open reading frame 69 NM_153689 chr2_200498335_200498336_CT_ NA Deletion Frameshift 10% PGDX30T CABP1 calcium binding protein 1 CCDS9205.1 chr12_119572844_119572848_TCCAC_ NA Deletion Frameshift 13% PGDX30T CAP1 CAP; adenylate cyclase-associated protein 1 (yeast) CCDS41309.1 chr1_40300027_40300027_C_T 84R>X Substitution Nonsense 14% Nonsynonymous PGDX30T CASP5 caspase 5; apoptosis-related cysteine peptidase CCDS8328.1 chr11_104383260_104383260_T_C 49K>E Substitution 15% coding Nonsynonymous PGDX30T CMKLR1 chemokine-like receptor 1 CCDS41829.1 chr12_107210378_107210378_C_A 162W>C Substitution 21% coding PGDX30T DIAPH2 diaphanous homolog 2 (Drosophila) ENST00000355827 chrX_95935282_95935282_A_ NA Deletion Frameshift 24% Nonsynonymous PGDX30T DRD2 dopamine receptor D2 CCDS8361.1 chr11_112786691_112786691_G_A 434R>C Substitution 25% coding Nonsynonymous PGDX30T EPHA3 EPH receptor A3 CCDS2922.1 chr3_89563058_89563058_G_T 735K>N Substitution 18% coding PGDX30T FAT2 FAT tumor suppressor homolog 2 (Drosophila) CCDS4317.1 chr5_150881459_150881459_C_ NA Deletion Frameshift 20% Nonsynonymous PGDX30T GDAP1L1 ganglioside-induced differentiation-associated protein 1-like 1 CCDS13328.1 chr20_42341133_42341133_C_T 295R>W Substitution 13% coding Nonsynonymous PGDX30T GNLY granulysin CCDS1984.1 chr2_85776647_85776647_C_T 71T>M Substitution 15% coding Nonsynonymous PGDX30T HEATR7B2 HEAT repeat family 7B2 NM_173489 chr5_41092998_41092998_T_A 297M>L Substitution 11% coding Nonsynonymous PGDX30T HS6ST2 heparan sulfate 6-O-sulfotransferase 2 ENST00000319809 chrX_131918942_131918942_C_A 173G>C Substitution 30% coding Nonsynonymous PGDX30T IL7 interleukin 7 CCDS6224.1 chr8_79872873_79872873_C_T 46D>N Substitution 41% coding potassium voltage-gated channel; shaker-related subfamily; Nonsynonymous PGDX30T KCNA3 CCDS828.2 chr1_111017814_111017814_A_G 381S>P Substitution 11% member 3 coding Nonsynonymous PGDX30T LAMA2 laminin; alpha 2 CCDS5138.1 chr6_129642933_129642933_G_A 829G>R Substitution 15% coding Nonsynonymous PGDX30T MAGEE1 melanoma antigen family E; 1 CCDS14433.1 chrX_75565948_75565948_C_A 407N>K Substitution 29% coding Nonsynonymous PGDX30T MED1 mediator complex subunit 1 CCDS11336.1 chr17_34818560_34818560_G_C 1147S>C Substitution 49% coding Nonsynonymous PGDX30T MED1 mediator complex subunit 1 CCDS11336.1 chr17_34818191_34818191_G_T 1270S>Y Substitution 45% coding Nonsynonymous PGDX30T MEIS3 Meis homeobox 3 CCDS33064.1 chr19_52601560_52601560_A_C 418W>G Substitution 16% coding Nonsynonymous PGDX30T MXRA5 matrix-remodelling associated 5 CCDS14124.1 chrX_3237993_3237993_C_T 2751V>M Substitution 30% coding Nonsynonymous PGDX30T MYO15A myosin XVA CCDS42271.1 chr17_17999453_17999453_G_A 2814R>Q Substitution 37% coding PGDX30T NF1 neurofibromin 1 CCDS42292.1 chr17_26586864_26586865_CT_ NA Deletion Frameshift 22% PGDX30T NF1 neurofibromin 1 CCDS42292.1 chr17_26521129_26521129_C_T 192R>X Substitution Nonsense 21% PGDX30T NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 CCDS9393.1 chr13_44421975_44421975_T_A NA Substitution Splice site 10% Nonsynonymous PGDX30T OR6Q1 olfactory receptor; family 6; subfamily Q; member 1 CCDS31541.1 chr11_57555759_57555759_C_A 253S>R Substitution 14% coding Nonsynonymous PGDX30T OTUD6B OTU domain containing 6B NM_016023 chr8_92152550_92152550_C_A 61Q>K Substitution 12% coding PGDX30T PAQR6 progestin and adipoQ receptor family member VI CCDS1135.1 chr1_154481656_154481656_G_A NA Substitution Splice site 17% Nonsynonymous PGDX30T PARP15 poly(ADP-ribose) polymerase family, member 15 NM_001113523 chr3_123814645_123814645_T_C 204F>S Substitution 28% coding Nonsynonymous PGDX30T PELI3 pellino homolog 3 (Drosophila) CCDS31615.1 chr11_65996485_65996485_T_C 142Y>H Substitution 17% coding PGDX30T POLM polymerase (DNA directed); mu CCDS34625.1 chr7_44086984_44086984_C_T 82W>X Substitution Nonsense 19% Nonsynonymous PGDX30T PTPN11 protein tyrosine phosphatase; non-receptor type 11 CCDS9163.1 chr12_111372546_111372546_G_T 60G>V Substitution 14% coding PGDX30T PTPRT protein tyrosine phosphatase; receptor type; T CCDS42874.1 chr20_40223585_40223585_G_ NA Deletion Frameshift 13% Nonsynonymous PGDX30T PTPRT protein tyrosine phosphatase; receptor type; T CCDS42874.1 chr20_40818632_40818632_A_G 248F>S Substitution 17% coding Nonsynonymous PGDX30T SPOP speckle-type POZ protein CCDS11551.1 chr17_45055159_45055159_G_T 5P>T Substitution 43% coding PGDX30T STAG2 stromal antigen 2 CCDS43990.1 chrX_123008992_123008992_C_T 259R>X Substitution Nonsense 46% PGDX30T STXBP5L syntaxin binding protein 5-like CCDS43137.1 chr3_122481347_122481347_C_ NA Deletion Frameshift 14% Nonsynonymous PGDX30T TCP1 t-complex 1 CCDS5269.1 chr6_160121983_160121983_A_G 316L>P Substitution 24% coding PGDX30T THAP2 THAP domain containing; apoptosis associated protein 2 CCDS9001.1 chr12_70354282_70354282_G_A 35W>X Substitution Nonsense 17% Nonsynonymous PGDX30T UTP14A UTP14; U3 small nucleolar ribonucleoprotein; homolog A (yeast) CCDS14615.1 chrX_128872718_128872718_T_C 98S>P Substitution 15% coding Nonsynonymous PGDX30T ZBTB49 zinc finger and BTB domain containing 49 CCDS3375.1 chr4_4373289_4373289_G_C 548G>A Substitution 15% coding Nonsynonymous PGDX30T ZMAT1 zinc finger; matrin type 1 CCDS35348.1 chrX_101028309_101028309_A_G 186S>P Substitution 20% coding Nonsynonymous PGDX30T ZNF169 zinc finger protein 169 CCDS6709.2 chr9_96102968_96102968_G_A 436G>E Substitution 20% coding Nonsynonymous PGDX30T ZNF804B zinc finger protein 804B CCDS5613.1 chr7_88794646_88794646_C_T 101S>L Substitution 17% coding Nonsynonymous PGDX30T ZNF814 zinc finger protein 814 NM_001144989 chr19_63077961_63077961_A_C 203C>W Substitution 11% coding PGDX30T ZNFX1 zinc finger; NFX1-type containing 1 CCDS13417.1 chr20_47298879_47298879_A_T 1363C>X Substitution Nonsense 10% Nonsynonymous PGDX310T AC004832.3 uncharacterized protein ENST00000402592 chr22_29149072-29149072_C_T 12S>L Substitution 16% coding Nonsynonymous PGDX310T ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif; 9 CCDS2903.1 chr3_64610394-64610394_C_G 522E>Q Substitution 11% coding PGDX310T AL672167.6 seven transmembrane helix receptor ENST00000377164 chr6_29338455-29338455_T_A NA Substitution 3' UTR 17% PGDX310T ALG13 asparagine-linked glycosylation 13 homolog NM_001099922 chrX_110838000-110838000_C_G 158S>X Substitution Nonsense 45% Nonsynonymous PGDX310T ANK1 ankyrin 1; erythrocytic CCDS6119.1 chr8_41704653-41704653_G_A 86A>V Substitution 11% coding PGDX310T ANTXRL anthrax toxin receptor-like ENST00000354871 chr10_47128755-47128755_G_C NA Substitution Splice site donor 20% Nonsynonymous PGDX310T ASTN2 astrotactin 2 CCDS6815.1 chr9_119016734-119016734_C_T 247E>K Substitution 11% coding Nonsynonymous PGDX310T ATXN1 ataxin 1 CCDS34342.1 chr6_16435427-16435427_G_C 365P>R Substitution 13% coding PGDX310T BAT2L2 HLA-B associated transcript 2-like 2 ENST00000392080 chr1_169775957-169775957_C_T 908Q>X Substitution Nonsense 13% Nonsynonymous PGDX310T BNC2 basonuclin 2 CCDS6482.2 chr9_16426454-16426454_C_G 580G>R Substitution 12% coding Nonsynonymous PGDX310T BRWD3 bromodomain and WD repeat domain containing 3 CCDS14447.1 chrX_79950713-79950713_C_T 54R>Q Substitution 12% coding PGDX310T C14orf93 chromosome 14 open reading frame 93 CCDS9583.1 chr14_22526652-22526652__T NA Insertion Frameshift 28% Nonsynonymous PGDX310T CACNG6 calcium channel; voltage-dependent; gamma subunit 6 CCDS12870.1 chr19_59193367-59193367_A_T 132T>S Substitution 13% coding Nonsynonymous PGDX310T CADPS Ca++-dependent secretion activator CCDS2899.1 chr3_62497183-62497183_G_C 694L>V Substitution 46% coding Nonsynonymous PGDX310T CAMTA2 calmodulin binding transcription activator 2 CCDS11063.1 chr17_4816364-4816364_C_T 899E>K Substitution 11% coding Nonsynonymous PGDX310T CAPN11 calpain 11 NM_007058 chr6_44245169-44245169_G_A 88E>K Substitution 15% coding Nonsynonymous PGDX310T CASC5 cancer susceptibility candidate 5 CCDS42023.1 chr15_38704972-38704972_G_C 1766E>Q Substitution 12% coding Nonsynonymous PGDX310T CASP14 caspase 14; apoptosis-related cysteine peptidase CCDS12323.1 chr19_15025598-15025598_C_T 78P>S Substitution 28% coding PGDX310T CCDC168 coiled-coil domain-containing protein 168 NM_001146197 chr13_102180491-102180491__T NA Insertion Frameshift 26% Nonsynonymous PGDX310T CTNND2 catenin (cadherin-associated protein); delta 2 CCDS3881.1 chr5_11399683-11399683_C_A 477G>C Substitution 18% coding Nonsynonymous PGDX310T DIXDC1 DIX domain containing 1 ENST00000389821 chr11_111393773-111393773_A_G 641Y>C Substitution 46% coding Nonsynonymous PGDX310T DLL4 delta-like protein 4 precursor NM_019074 chr15_39011170-39011170_G_A 191R>H Substitution 15% coding Nonsynonymous PGDX310T DMXL2 Dmx-like 2 CCDS10141.1 chr15_49616267-49616267_T_A 568I>L Substitution 30% coding Nonsynonymous PGDX310T DNAH9 dynein; axonemal; heavy chain 9 CCDS11160.1 chr17_11533999-11533999_C_G 1379P>A Substitution 27% coding Nonsynonymous PGDX310T DSCAML1 Down syndrome cell adhesion molecule like 1 CCDS8384.1 chr11_117152795-117152795_G_C 204F>L Substitution 15% coding Nonsynonymous PGDX310T DUSP21 dual specificity phosphatase 21 CCDS14264.1 chrX_44588462-44588462_G_A 47R>H Substitution 48% coding Nonsynonymous PGDX310T EDEM1 ER degradation enhancer; mannosidase alpha-like 1 CCDS33686.1 chr3_5230149-5230149_G_T 609G>V Substitution 51% coding Nonsynonymous PGDX310T EGLN1 egl nine homolog 1 (C. elegans) CCDS1595.1 chr1_229623480-229623480_C_G 260E>Q Substitution 11% coding eukaryotic translation initiation factor 2B; subunit 3 gamma; PGDX310T EIF2B3 CCDS517.1 chr1_45119907-45119907_C_A 250E>X Substitution Nonsense 11% 58kDa Nonsynonymous PGDX310T EMX2 empty spiracles homeobox 2 CCDS7601.1 chr10_119293100-119293100_C_T 111S>L Substitution 24% coding Nonsynonymous PGDX310T FBN3 fibrillin 3 CCDS12196.1 chr19_8061009-8061009_C_T 2053C>Y Substitution 11% coding PGDX310T FBXO48 F-box protein 48 CCDS33213.1 chr2_68545719-68545720_CA_ NA Deletion Frameshift 25% Nonsynonymous PGDX310T FOXL1 forkhead box L1 CCDS10959.1 chr16_85169963-85169963_G_A 45E>K Substitution 18% coding Nonsynonymous PGDX310T GDAP1L1 ganglioside-induced differentiation-associated protein 1-like 1 CCDS13328.1 chr20_42326547-42326547_G_A 232G>R Substitution 21% coding Nonsynonymous PGDX310T GNL1 Guanine nucleotide-binding protein-like 1 CCDS4680.1 chr6_30622470-30622470_C_G 522G>R Substitution 14% coding Nonsynonymous PGDX310T GNL1 Guanine nucleotide-binding protein-like 1 CCDS4680.1 chr6_30622469-30622469_C_A 522G>V Substitution 13% coding Nonsynonymous PGDX310T GP2 glycoprotein 2 CCDS42128.1 chr16_20241770-20241770_C_T 193A>T Substitution 11% coding Nonsynonymous PGDX310T GPAM glycerol-3-phosphate acyltransferase; mitochondrial CCDS7570.1 chr10_113913470-113913470_G_C 468L>V Substitution 29% coding Nonsynonymous PGDX310T GPR128 G protein-coupled receptor 128 CCDS2938.1 chr3_101847502-101847502_G_T 324V>L Substitution 15% coding Nonsynonymous PGDX310T HEATR7B2 HEAT repeat-containing protein 7B2 NM_173489 chr5_41053747-41053747_G_A 949A>V Substitution 26% coding PGDX310T HTR1A 5-hydroxytryptamine (serotonin) receptor 1A CCDS34168.1 chr5_63292732-63292732_T_A 191K>X Substitution Nonsense 10% Nonsynonymous PGDX310T HYDIN hydrocephalus inducing homolog (mouse) CCDS42189.1 chr16_69431541-69431541_A_G 4323F>L Substitution 10% coding Nonsynonymous PGDX310T IL23R interleukin 23 receptor CCDS637.1 chr1_67475064-67475064_C_A 346L>I Substitution 16% coding Nonsynonymous PGDX310T IL8 interleukin 8 ENST00000395775 chr4_74825184-74825184_C_G 13S>C Substitution 14% coding Nonsynonymous PGDX310T KCNU1 potassium channel subfamily U member 1 NM_001031836 chr8_36784075-36784075_G_A 202R>H Substitution 45% coding Nonsynonymous PGDX310T KIF26B kinesin family member 26B NM_018012 chr1_243649531-243649531_C_T 343R>W Substitution 16% coding Nonsynonymous PGDX310T LINGO2 leucine rich repeat and Ig domain containing 2 CCDS6524.1 chr9_27940180-27940180_C_T 164D>N Substitution 12% coding leucine-rich repeats and calponin homology (CH) domain Nonsynonymous PGDX310T LRCH3 CCDS3330.1 chr3_199077412-199077412_G_A 600A>T Substitution 12% containing 3 coding Nonsynonymous PGDX310T LRRC17 leucine rich repeat containing 17 CCDS34721.1 chr7_102371928-102371928_G_A 322D>N Substitution 21% coding PGDX310T LRRC17 leucine rich repeat containing 17 CCDS34721.1 chr7_102371919-102371919_G_T 319E>X Substitution Nonsense 21% Nonsynonymous PGDX310T MACF1 microtubule-actin crosslinking factor 1 CCDS436.1 chr1_39626623-39626623_A_C 3614L>F Substitution 10% coding Nonsynonymous PGDX310T MAP3K4 mitogen-activated protein kinase kinase kinase 4 CCDS34565.1 chr6_161390885-161390885_G_T 531D>Y Substitution 12% coding Nonsynonymous PGDX310T MCM9 minichromosome maintenance complex component 9 ENST00000316316 chr6_119254006-119254006_C_T 211E>K Substitution 13% coding Nonsynonymous PGDX310T MED23 mediator complex subunit 23 CCDS5147.1 chr6_131954168-131954168_C_T 1222G>R Substitution 20% coding myeloid/lymphoid or mixed-lineage leukemia trithorax homolog; Nonsynonymous PGDX310T MLLT1 CCDS12160.1 chr19_6173232-6173232_C_T 337R>K Substitution 24% 1 coding Nonsynonymous PGDX310T MORC4 MORC family CW-type zinc finger 4 CCDS14525.2 chrX_106084902-106084902_C_T 528E>K Substitution 24% coding PGDX310T MRO maestro CCDS11947.1 chr18_46579761-46579761_G_A NA Substitution Splice site acceptor 11% Nonsynonymous PGDX310T MUC16 mucin-16 NM_024690 chr19_8938734-8938734_T_C 3238M>V Substitution 29% coding Nonsynonymous PGDX310T MYO5C myosin VC CCDS42036.1 chr15_50308762-50308762_C_T 1023E>K Substitution 13% coding Nonsynonymous PGDX310T NF1 neurofibromin 1 CCDS42292.1 chr17_26611587-26611587_G_A 1502G>D Substitution 21% coding Nonsynonymous PGDX310T NLRC5 NLR family; CARD domain containing 5 CCDS10773.1 chr16_55633468-55633468_C_A 1035Q>K Substitution 21% coding Nonsynonymous PGDX310T OR52E6 olfactory receptor 52E6 NM_001005167 chr11_5819580-5819580_G_T 42L>M Substitution 13% coding Nonsynonymous PGDX310T OR5M9 olfactory receptor; family 5; subfamily M; member 9 CCDS31531.1 chr11_55987241-55987241_G_C 71F>L Substitution 13% coding Nonsynonymous PGDX310T OTOF otoferlin CCDS1725.1 chr2_26543865-26543865_C_A 1367G>W Substitution 31% coding Nonsynonymous PGDX310T PASK PAS domain containing serine/threonine kinase CCDS2545.1 chr2_241714332-241714332_C_T 891E>K Substitution 10% coding Nonsynonymous PGDX310T PCSK6 proprotein convertase subtilisin/kexin type 6 ENST00000348070 chr15_99664987-99664987_G_C 921F>L Substitution 35% coding Nonsynonymous PGDX310T PDILT protein disulfide isomerase-like; testis expressed CCDS10584.1 chr16_20278330-20278330_C_T 523V>M Substitution 31% coding PGDX310T PIK3R1 phosphoinositide-3-kinase; regulatory subunit 1 (alpha) CCDS3993.1 chr5_67625046-67625046__T NA Insertion Frameshift 25% Nonsynonymous PGDX310T PIPSL PIP5K1A and PSMD4-like ENST00000340582 chr10_95709027-95709027_C_T 706R>H Substitution 31% coding Nonsynonymous PGDX310T POLQ polymerase (DNA directed); theta CCDS33833.1 chr3_122689301-122689301_G_C 1723R>G Substitution 14% coding PGDX310T PRMT1 protein arginine methyltransferase 1 CCDS42592.1 chr19_54877013-54877013_A_ NA Deletion Frameshift 29% Nonsynonymous PGDX310T PSMD7 proteasome 26S subunit; non-ATPase; 7 CCDS10910.1 chr16_72893663-72893663_C_A 137A>E Substitution 23% coding PGDX310T SFMBT2 Scm-like with four mbt domains 2 CCDS31138.1 chr10_7309906-7309906_C_A NA Substitution Splice site acceptor 12% Nonsynonymous PGDX310T SFXN5 sideroflexin 5 CCDS1922.1 chr2_73041863-73041863_G_A 284P>S Substitution 38% coding PGDX310T SLC23A2 solute carrier family 23; member 2 CCDS13085.1 chr20_4831208-4831208_C_T NA Substitution Splice site acceptor 30% Nonsynonymous PGDX310T SNPH syntaphilin CCDS13012.1 chr20_1233931-1233931_G_T 240G>W Substitution 18% coding Nonsynonymous PGDX310T SYNCRIP synaptotagmin binding; cytoplasmic RNA interacting protein CCDS5005.1 chr6_86381269-86381269_T_C 599D>G Substitution 10% coding TATA box binding protein (TBP)-associated factor; RNA Nonsynonymous PGDX310T TAF1C CCDS32496.1 chr16_82772226-82772226_C_T 437R>H Substitution 20% polymerase I; C; 110kDa coding Nonsynonymous PGDX310T TCERG1L transcription elongation regulator 1-like NM_174937 chr10_132786619-132786619_T_G 515K>T Substitution 17% coding Nonsynonymous PGDX310T TCL6 T-cell leukemia/lymphoma 6 CCDS9939.1 chr14_95204396-95204396_G_C 79E>Q Substitution 33% coding Nonsynonymous PGDX310T TGOLN2 trans-golgi network protein 2 NM_006464 chr2_85408589-85408589_A_C 3F>C Substitution 33% coding Nonsynonymous PGDX310T TJP3 tight junction protein 3 CCDS32873.1 chr19_3684907-3684907_G_C 311E>Q Substitution 13% coding Nonsynonymous PGDX310T TMEM179B transmembrane protein 179B CCDS8036.1 chr11_62313695-62313695_C_G 156L>V Substitution 30% coding Nonsynonymous PGDX310T TMTC1 transmembrane and tetratricopeptide repeat containing 1 CCDS8718.1 chr12_29561698-29561698_C_T 592E>K Substitution 18% coding PGDX310T TP53 tumor protein p53 CCDS11118.1 chr17_7514735-7514735_C_ NA Deletion Frameshift 43% Nonsynonymous PGDX310T TTL tubulin tyrosine ligase CCDS2096.1 chr2_113002838-113002838_C_G 377L>V Substitution 27% coding Nonsynonymous PGDX310T TTN titin ENST00000375038 chr2_179156727-179156727_C_A 17791A>S Substitution 59% coding PGDX310T TUBGCP4 tubulin; gamma complex associated protein 4 CCDS42030.1 chr15_41483914-41483914_C_ NA Deletion Frameshift 38% Nonsynonymous PGDX310T UNC5D unc-5 homolog D (C. elegans) CCDS6093.1 chr8_35727719-35727719_C_A 666D>E Substitution 45% coding Nonsynonymous PGDX310T USP15 ubiquitin specific peptidase 15 CCDS8963.1 chr12_61061658-61061658_A_G 317I>V Substitution 11% coding Nonsynonymous PGDX310T WDR5B WD repeat domain 5B CCDS3012.1 chr3_123616473-123616473_G_A 198S>L Substitution 11% coding Nonsynonymous PGDX310T WDTC1 WD and tetratricopeptide repeats 1 CCDS296.1 chr1_27486939-27486939_G_A 160R>H Substitution 26% coding Nonsynonymous PGDX310T XDH xanthine dehydrogenase CCDS1775.1 chr2_31444394-31444394_C_T 712E>K Substitution 12% coding Nonsynonymous PGDX310T XIRP2 xin actin-binding repeat containing 2 CCDS42769.1 chr2_167809920-167809920_G_A 1258D>N Substitution 10% coding Nonsynonymous PGDX310T ZNF521 zinc finger protein 521 CCDS32806.1 chr18_21060858-21060858_C_T 341S>N Substitution 10% coding Nonsynonymous PGDX310T ZNF596 zinc finger protein 596 CCDS5951.2 chr8_185655-185655_G_A 270E>K Substitution 14% coding PGDX327X ABCB8 ATP-binding cassette; sub-family B (MDR/TAP); member 8 CCDS5913.1 chr7_150373332-150373332_A_C 707K>T Substitution Nonsynonymous 24% coding Nonsynonymous PGDX327X ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 CCDS7890.1 chr11_34139054-34139054_A_G 604L>P Substitution 21% coding Nonsynonymous PGDX327X AC004893.1 uncharacterized protein ENST00000360902 chr7_98449126-98449126_G_A 5R>Q Substitution 59% coding Nonsynonymous PGDX327X AC006271.2 Seven transmembrane helix receptor ENST00000344049 chr19_9207759-9207759_C_T 209R>W Substitution 28% coding Nonsynonymous PGDX327X ACOT11 acyl-CoA thioesterase 11 CCDS592.1 chr1_54839672-54839672_G_A 343G>S Substitution 72% coding Nonsynonymous PGDX327X ACTN2 actinin; alpha 2 CCDS1613.1 chr1_234947885-234947885_A_C 77E>D Substitution 17% coding Nonsynonymous PGDX327X AFF2 AF4/FMR2 family; member 2 CCDS14684.1 chrX_147845566-147845566_G_T 764G>V Substitution 13% coding Nonsynonymous PGDX327X ANKRD11 ankyrin repeat domain 11 CCDS32513.1 chr16_87874219-87874219_C_G 2078D>H Substitution 21% coding PGDX327X APC adenomatous polyposis coli CCDS4107.1 chr5_112203533-112203533_C_ NA Deletion Frameshift 38% PGDX327X APC adenomatous polyposis coli CCDS4107.1 chr5_112201816-112201816_C_T 876R>X Substitution Nonsense 47% PGDX327X AXIN2 axin 2 CCDS11662.1 chr17_60964804-60964804__C NA Insertion Frameshift 31% Nonsynonymous PGDX327X BMPER BMP binding endothelial regulator CCDS5442.1 chr7_34091941-34091941_C_T 486A>V Substitution 30% coding PGDX327X BRD4 bromodomain-containing protein 4 isoform short NM_014299 chr19_15221105-15221105_C_ NA Deletion Splice site acceptor 14% Nonsynonymous PGDX327X BSX brain-specific homeobox CCDS41728.1 chr11_122355310-122355310_G_A 110R>C Substitution 67% coding Nonsynonymous PGDX327X C19orf67 chromosome 19 open reading frame 67 ENST00000343945 chr19_14054390-14054390_A_C 179W>G Substitution 40% coding voltage-dependent R-type calcium channel subunit alpha-1E Nonsynonymous PGDX327X CACNA1E NM_000721 chr1_180034507-180034507_C_T 2243R>W Substitution 27% isoform 3 coding Nonsynonymous PGDX327X CASP2 caspase 2; apoptosis-related cysteine peptidase CCDS5879.1 chr7_142701475-142701475_A_G 169D>G Substitution 22% coding Nonsynonymous PGDX327X CDH8 cadherin 8; type 2 CCDS10802.1 chr16_60416465-60416465_T_C 263T>A Substitution 41% coding Nonsynonymous PGDX327X CIDEC cell death-inducing DFFA-like effector c CCDS2587.1 chr3_9886695-9886695_C_T 142R>H Substitution 49% coding Nonsynonymous PGDX327X CLDN6 claudin 6 CCDS10488.1 chr16_3005702-3005702_C_T 108V>M Substitution 34% coding Nonsynonymous PGDX327X CNTNAP1 contactin associated protein 1 CCDS11436.1 chr17_38093363-38093363_C_T 382R>C Substitution 33% coding Nonsynonymous PGDX327X DDR2 discoidin domain receptor tyrosine kinase 2 CCDS1241.1 chr1_161009923-161009923_A_G 590D>G Substitution 11% coding Nonsynonymous PGDX327X DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 CCDS6526.1 chr9_32470315-32470315_C_T 559R>Q Substitution 78% coding Nonsynonymous PGDX327X DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 CCDS11617.1 chr17_55037628-55037628_C_T 671H>Y Substitution 34% coding Nonsynonymous PGDX327X DNAH17 dynein heavy chain 17, axonemal NM_173628 chr17_74079025-74079025_C_T 255E>K Substitution 32% coding Nonsynonymous PGDX327X EGFR epidermal growth factor receptor CCDS5514.1 chr7_55195501-55195501_A_C 492S>R Substitution 14% coding Nonsynonymous PGDX327X ETAA1 Ewing tumor-associated antigen 1 CCDS1882.1 chr2_67483944-67483944_A_T 209Q>L Substitution 26% coding PGDX327X ETFDH electron-transferring-flavoprotein dehydrogenase CCDS3800.1 chr4_159821081-159821081_T_G 16F>C Substitution Nonsynonymous 47% coding

PGDX327X EVX1 even-skipped homeobox 1 CCDS5413.1 chr7_27251347-27251349_ATT_ 195I> Deletion In-frame deletion 35% Nonsynonymous PGDX327X EVX1 even-skipped homeobox 1 CCDS5413.1 chr7_27251350-27251350_G_T 196A>S Substitution 32% coding PGDX327X F5 coagulation factor V CCDS1281.1 chr1_167808086-167808086_C_A 124E>X Substitution Nonsense 31% Nonsynonymous PGDX327X FAM129A family with sequence similarity 129; member A CCDS1364.1 chr1_183031131-183031131_G_A 797P>L Substitution 81% coding Nonsynonymous PGDX327X FAM155B family with sequence similarity 155; member B CCDS35317.1 chrX_68666175-68666175_A_C 357K>T Substitution 10% coding Nonsynonymous PGDX327X FAM179A family with sequence similarity 179; member A NM_199280 chr2_29100614-29100614_C_T 575R>C Substitution 49% coding Nonsynonymous PGDX327X FILIP1L filamin A interacting protein 1-like CCDS43117.1 chr3_101052368-101052368_A_C 281V>G Substitution 20% coding Nonsynonymous PGDX327X FRMD3 FERM domain containing 3 CCDS43840.1 chr9_85053029-85053029_A_G 473L>P Substitution 28% coding Nonsynonymous PGDX327X FRMD4B FERM domain-containing protein 4B NM_015123 chr3_69328153-69328153_T_C 393T>A Substitution 44% coding Nonsynonymous PGDX327X GDF5 growth differentiation factor 5 CCDS13254.1 chr20_33485630-33485630_C_T 333A>T Substitution 62% coding Nonsynonymous PGDX327X GLT6D1 glycosyltransferase 6 domain containing 1 CCDS43900.1 chr9_137656029-137656029_G_A 189P>L Substitution 59% coding Nonsynonymous PGDX327X GPR143 G protein-coupled receptor 143 CCDS14134.1 chrX_9667593-9667593_G_A 371P>L Substitution 28% coding Nonsynonymous PGDX327X HYDIN hydrocephalus inducing homolog (mouse) CCDS42189.1 chr16_69564856-69564856_C_T 1756R>H Substitution 35% coding Nonsynonymous PGDX327X ICA1L islet cell autoantigen 1;69kDa-like CCDS2354.1 chr2_203361822-203361822_A_G 407F>L Substitution 49% coding Nonsynonymous PGDX327X IGFN1 immunoglobulin-like and fibronectin type III domain containing 1 CCDS1409.1 chr1_199461784-199461784_G_A 726E>K Substitution 68% coding Nonsynonymous PGDX327X IL1RAP interleukin-1 receptor accessory protein isoform 3 NM_001167931 chr3_191856813-191856813_C_T 596P>L Substitution 27% coding Nonsynonymous PGDX327X IQGAP2 IQ motif containing GTPase activating protein 2 CCDS34188.1 chr5_76014710-76014710_C_G 1225H>Q Substitution 51% coding Nonsynonymous PGDX327X ITGA3 integrin; alpha 3 CCDS11557.1 chr17_45496547-45496547_G_A 105R>Q Substitution 50% coding JMJD7- PGDX327X JMJD7-PLA2G4B readthrough CCDS32202.1 chr15_39921065-39921065_A_C NA Substitution Splice site donor 50% PLA2G4B potassium large conductance calcium-activated channel; PGDX327X KCNMA1 CCDS7352.1 chr10_78538339-78538339__GAG NA Insertion Splice site acceptor 15% subfamily M; alpha member 1 Nonsynonymous PGDX327X KDM6A lysine (K)-specific demethylase 6A CCDS14265.1 chrX_44803456-44803456_A_G 332N>S Substitution 37% coding Nonsynonymous PGDX327X LECT1 leukocyte cell derived chemotaxin 1 CCDS9437.1 chr13_52205471-52205471_T_G 80S>R Substitution 25% coding PGDX327X LMBR1L limb region 1 homolog (mouse)-like CCDS8780.2 chr12_47785973-47785973_C_T NA Substitution Splice site donor 100% Nonsynonymous PGDX327X MAGEC3 melanoma antigen family C; 3 CCDS14676.1 chrX_140797160-140797160_G_A 274R>H Substitution 31% coding membrane associated guanylate kinase; WW and PDZ domain Nonsynonymous PGDX327X MAGI1 CCDS33781.1 chr3_65319843-65319843_G_T 1248A>E Substitution 25% containing 1 coding PGDX327X MAOB monoamine oxidase B CCDS14261.1 chrX_43511675-43511675_C_ NA Deletion Frameshift 54% PGDX327X MGA MAX gene-associated protein isoform 1 NM_001164273 chr15_39819621-39819623_TCC_ 1505S> Deletion In-frame deletion 26% Nonsynonymous PGDX327X MPP5 membrane protein; palmitoylated 5 CCDS9779.1 chr14_66815689-66815689_G_A 17E>K Substitution 39% coding Nonsynonymous PGDX327X MRGPRD MAS-related GPR; member D CCDS31625.1 chr11_68504380-68504380_G_A 218R>W Substitution 30% coding Nonsynonymous PGDX327X MYOM1 myomesin-1 isoform a NM_003803 chr18_3069265-3069265_C_A 1520E>D Substitution 56% coding Nonsynonymous PGDX327X NALCN sodium leak channel; non-selective CCDS9498.1 chr13_100795707-100795707_T_C 237Y>C Substitution 63% coding Nonsynonymous PGDX327X NAT10 N-acetyltransferase 10 (GCN5-related) CCDS7889.1 chr11_34115101-34115101_G_T 721K>N Substitution 24% coding Nonsynonymous PGDX327X NCAN neurocan CCDS12397.1 chr19_19198567-19198567_A_G 449S>G Substitution 15% coding Nonsynonymous PGDX327X NLRC4 NLR family; CARD domain containing 4 CCDS33174.1 chr2_32328732-32328732_A_T 569S>T Substitution 28% coding PGDX327X NLRC4 NLR family; CARD domain containing 4 CCDS33174.1 chr2_32328731-32328731_G_C 569S>X Substitution Nonsense 28% Nonsynonymous PGDX327X NLRP8 NLR family; pyrin domain containing 8 CCDS12937.1 chr19_61158879-61158879_G_T 548S>I Substitution 54% coding Nonsynonymous PGDX327X NTN5 netrin 5 CCDS33068.1 chr19_53859292-53859292_T_A 297K>M Substitution 35% coding Nonsynonymous PGDX327X NXPH3 neurexophilin 3 CCDS11550.1 chr17_45011392-45011392_T_C 164F>L Substitution 26% coding Nonsynonymous PGDX327X OSGIN1 oxidative stress induced growth inhibitor 1 CCDS10938.1 chr16_82551709-82551709_G_A 163R>Q Substitution 51% coding Nonsynonymous PGDX327X PCLO protein piccolo isoform 1 NM_033026 chr7_82622602-82622602_C_G 431A>P Substitution 46% coding Nonsynonymous PGDX327X PCNX pecanex homolog (Drosophila) CCDS9806.1 chr14_70514837-70514837_G_A 677R>Q Substitution 37% coding Nonsynonymous PGDX327X PDZRN4 PDZ domain containing ring finger 4 CCDS8739.1 chr12_40186628-40186628_T_G 58L>R Substitution 35% coding Nonsynonymous PGDX327X PELO pelota homolog (Drosophila) CCDS3956.1 chr5_52132527-52132527_C_T 181A>V Substitution 21% coding Nonsynonymous PGDX327X PIK3CA phosphoinositide-3-kinase; catalytic; alpha polypeptide CCDS43171.1 chr3_180434779-180434779_A_G 1047H>R Substitution 73% coding PGDX327X PRL prolactin CCDS4548.1 chr6_22398565-22398565_C_T NA Substitution Splice site acceptor 29% Nonsynonymous PGDX327X PRODH2 proline dehydrogenase (oxidase) 2 CCDS32996.1 chr19_41034291-41034291_G_A 61A>V Substitution 57% coding Nonsynonymous PGDX327X PTEN phosphatase and tensin homolog CCDS31238.1 chr10_89701879-89701879_C_T 173R>C Substitution 98% coding Nonsynonymous PGDX327X PTGES2 prostaglandin E synthase 2 CCDS6891.1 chr9_129925218-129925218_G_A 235R>W Substitution 24% coding PGDX327X RAD9B RAD9 homolog B (S. pombe) NM_152442 chr12_109453776-109453776_G_T 417E>X Substitution Nonsense 100% Nonsynonymous PGDX327X RAG1 recombination activating gene 1 CCDS7902.1 chr11_36553640-36553640_G_A 737R>H Substitution 61% coding Nonsynonymous PGDX327X RASAL3 RAS protein activator like-3 NM_022904 chr19_15430398-15430398_C_T 244R>Q Substitution 53% coding Nonsynonymous PGDX327X RBM10 RNA binding motif protein 10 CCDS14274.1 chrX_46915407-46915407_C_T 80R>C Substitution 11% coding Nonsynonymous PGDX327X RPN1 ribophorin I CCDS3051.1 chr3_129839435-129839435_A_T 177L>H Substitution 19% coding Nonsynonymous PGDX327X SALL1 sal-like 1 (Drosophila) CCDS10747.1 chr16_49731520-49731520_G_A 705P>L Substitution 21% coding PGDX327X SETDB1 SET domain; bifurcated 1 CCDS972.1 chr1_149188374-149188377_AGTG_ NA Deletion Frameshift 18% Nonsynonymous PGDX327X SIGLEC1 sialic acid binding Ig-like lectin 1; sialoadhesin CCDS13060.1 chr20_3635150-3635150_C_T 85G>S Substitution 35% coding Nonsynonymous PGDX327X SLC44A5 solute carrier family 44; member 5 CCDS667.1 chr1_75577879-75577879_T_C 26D>G Substitution 37% coding Nonsynonymous PGDX327X SLTM SAFB-like; transcription modulator CCDS10168.2 chr15_56996480-56996480_A_T 87H>Q Substitution 14% coding Nonsynonymous PGDX327X SORCS1 sortilin-related VPS10 domain containing receptor 1 CCDS31283.1 chr10_108913816-108913816_G_T 153F>L Substitution 100% coding PGDX327X SOX6 SRY (sex determining region Y)-box 6 CCDS7821.1 chr11_15951237-15951237_A_G NA Substitution Splice site acceptor 11% Nonsynonymous PGDX327X STK32C serine/threonine kinase 32C CCDS7666.1 chr10_133890445-133890445_T_A 163E>V Substitution 14% coding TAF1 RNA polymerase II; TATA box binding protein (TBP)- Nonsynonymous PGDX327X TAF1L NM_153809 chr9_32621512-32621512_G_A 1356R>C Substitution 66% associated factor; 210kDa-like coding TAF1 RNA polymerase II; TATA box binding protein (TBP)- PGDX327X TAF1L NM_153809 chr9_32622763-32622763_G_A 939Q>X Substitution Nonsense 25% associated factor; 210kDa-like Nonsynonymous PGDX327X TBX5 T-box 5 CCDS9173.1 chr12_113288537-113288537_T_G 266K>N Substitution 36% coding Nonsynonymous PGDX327X TDRD1 tudor domain containing 1 CCDS7588.1 chr10_115971159-115971159_A_G 942I>V Substitution 96% coding Nonsynonymous PGDX327X THAP9 THAP domain containing 9 CCDS3598.1 chr4_84057453-84057453_G_A 355R>H Substitution 59% coding Nonsynonymous PGDX327X TMEM149 transmembrane protein 149 CCDS12472.1 chr19_40922178-40922178_G_T 304P>Q Substitution 52% coding Nonsynonymous PGDX327X TP53 tumor protein p53 CCDS11118.1 chr17_7518263-7518263_C_T 248R>Q Substitution 100% coding Nonsynonymous PGDX327X TTN titin isoform novex-1 NM_133432 chr2_179330723-179330723_C_G 3444G>A Substitution 42% coding Nonsynonymous PGDX327X TUBA1A tubulin; alpha 1a CCDS8781.1 chr12_47866504-47866504_T_G 77E>D Substitution 42% coding Nonsynonymous PGDX327X TXLNB taxilin beta CCDS34545.1 chr6_139605634-139605634_G_T 593L>I Substitution 50% coding Nonsynonymous PGDX327X USP38 ubiquitin specific peptidase 38 CCDS3758.1 chr4_144338436-144338436_G_A 320R>Q Substitution 58% coding Nonsynonymous PGDX327X VPS37C vacuolar protein sorting 37 homolog C CCDS31573.1 chr11_60658146-60658146_G_A 68S>L Substitution 74% coding PGDX327X WLS wntless homolog (Drosophila) CCDS30750.1 chr1_68386406-68386406_C_T NA Substitution Splice site donor 55% Nonsynonymous PGDX327X YSK4 YSK4 Sps1/Ste20-related kinase homolog CCDS2176.2 chr2_135457777-135457777_T_A 1054K>M Substitution 29% coding Nonsynonymous PGDX327X ZGLP1 zinc finger; GATA-like protein 1 NM_001103167 chr19_10280024-10280024_G_A 112R>C Substitution 69% coding Nonsynonymous PGDX327X ZKSCAN1 zinc finger with KRAB and SCAN domains 1 CCDS34698.1 chr7_99459724-99459724_A_T 146Q>H Substitution 16% coding Nonsynonymous PGDX327X ZNF256 zinc finger protein 256 CCDS12966.1 chr19_63144621-63144621_A_C 456V>G Substitution 20% coding Nonsynonymous PGDX327X ZNF667 zinc finger protein 667 CCDS12944.1 chr19_61644359-61644359_G_C 606S>C Substitution 44% coding Nonsynonymous PGDX327X ZNF683 zinc finger protein 683 NM_001114759 chr1_26563938-26563938_G_C 229P>R Substitution 31% coding Nonsynonymous PGDX330 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif; 15 CCDS8488.1 chr11_129848862-129848862_G_A 930R>Q Substitution 38% coding PGDX330 AL356863.12 Uncharacterized protein ENST00000400433 chr13_37829651-37829651__TTT 14G>GF Insertion In-frame insertion 14% Nonsynonymous PGDX330 ANKRD36 ankyrin repeat domain 36 ENST00000357042 chr2_95868255-95868255_G_C 136Q>E Substitution 28% coding Nonsynonymous PGDX330 ARHGAP44 rho GTPase-activating protein 44 NM_014859 chr17_12793278-12793278_C_T 320P>S Substitution 34% coding Nonsynonymous PGDX330 ATP4A ATPase; H+/K+ exchanging; alpha polypeptide CCDS12467.1 chr19_40736498-40736498_C_T 852R>H Substitution 47% coding Nonsynonymous PGDX330 C2orf89 chromosome 2 open reading frame 89 NM_001080824 chr2_84904690-84904690_G_A 362T>M Substitution 41% coding Nonsynonymous PGDX330 CCDC60 coiled-coil domain containing 60 CCDS9190.1 chr12_118427383-118427383_C_A 259P>T Substitution 35% coding Nonsynonymous PGDX330 CCNJL cyclin J-like CCDS4350.2 chr5_159615197-159615197_T_C 275D>G Substitution 37% coding Nonsynonymous PGDX330 CPAMD8 C3 and PZP-like; alpha-2-macroglobulin domain containing 8 CCDS42519.1 chr19_16947871-16947871_C_T 664A>T Substitution 53% coding Nonsynonymous PGDX330 CUX2 cut-like homeobox 2 CCDS41837.1 chr12_110260539-110260539_G_A 1088R>Q Substitution 36% coding Nonsynonymous PGDX330 CXCR2 chemokine (C-X-C motif) receptor 2 CCDS2408.1 chr2_218708734-218708734_G_A 322R>H Substitution 36% coding Nonsynonymous PGDX330 DCUN1D5 DCN1; defective in cullin neddylation 1; domain containing 5 CCDS8325.1 chr11_102442441-102442441_G_A 136S>L Substitution 34% coding Nonsynonymous PGDX330 DNAH11 dynein; axonemal; heavy chain 11 ENST00000328843 chr7_21872662-21872662_G_T 3856G>V Substitution 21% coding Nonsynonymous PGDX330 DNAH12 dynein heavy chain 12, axonemal isoform 1 NM_178504 chr3_57429645-57429645_G_A 736T>M Substitution 39% coding Nonsynonymous PGDX330 DSC1 desmocollin 1 CCDS11894.1 chr18_26968686-26968686_G_A 575P>S Substitution 39% coding Nonsynonymous PGDX330 DVL1 dishevelled; dsh homolog 1 (Drosophila) CCDS22.1 chr1_1263864-1263864_C_G 389D>H Substitution 38% coding Nonsynonymous PGDX330 EVL Enah/Vasp-like CCDS9955.1 chr14_99673701-99673701_C_T 333S>L Substitution 34% coding Nonsynonymous PGDX330 FAM48B1 Uncharacterized protein NM_001136234 chrX_24292197-24292197_C_G 467L>V Substitution 35% coding Nonsynonymous PGDX330 FRMD7 FERM domain containing 7 CCDS35397.1 chrX_131040426-131040426_T_C 434R>G Substitution 34% coding Nonsynonymous PGDX330 FSCB fibrous sheath CABYR binding protein CCDS9679.1 chr14_44043902-44043902_G_C 680A>G Substitution 20% coding Nonsynonymous PGDX330 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 CCDS14485.1 chrX_100554279-100554279_G_T 216G>V Substitution 35% coding Nonsynonymous PGDX330 HSP90AB1 heat shock protein 90kDa alpha (cytosolic); class B member 1 CCDS4909.1 chr6_44327566-44327566_A_G 477K>E Substitution 38% coding Nonsynonymous PGDX330 HSPA5 heat shock 70kDa protein 5 CCDS6863.1 chr9_127041355-127041355_C_T 228G>R Substitution 32% coding Nonsynonymous PGDX330 IGHM immunoglobulin heavy constant mu ENST00000390559 chr14_105392252-105392252_C_T 261A>T Substitution 44% coding Nonsynonymous PGDX330 ITPR2 inositol 1;4;5-triphosphate receptor; type 2 CCDS41764.1 chr12_26760022-26760022_T_C 213N>S Substitution 36% coding PGDX330 LCT lactase CCDS2178.1 chr2_136283288-136283288_C_T 1033W>X Substitution Nonsense 43% Nonsynonymous PGDX330 MLLT10 myeloid/lymphoid or mixed-lineage leukemia; translocated to; 10 CCDS7135.1 chr10_22002321-22002321_C_T 363S>F Substitution 74% coding Nonsynonymous PGDX330 MS4A1 membrane-spanning 4-domains; subfamily A; member 1 CCDS31570.1 chr11_59988349-59988349_G_A 98G>R Substitution 28% coding Nonsynonymous PGDX330 MUC17 mucin 17; cell surface associated CCDS34711.1 chr7_100468826-100468826_G_A 2470S>N Substitution 33% coding Nonsynonymous PGDX330 MYH8 myosin; heavy chain 8; skeletal muscle; perinatal CCDS11153.1 chr17_10262943-10262943_C_T 114A>T Substitution 68% coding Nonsynonymous PGDX330 NHEDC2 Na+/H+ exchanger domain containing 2 CCDS3662.1 chr4_104189557-104189557_A_T 219S>T Substitution 41% coding PGDX330 NLRP11 NLR family; pyrin domain containing 11 CCDS12935.1 chr19_61012494-61012494_C_ NA Deletion Frameshift 26% Nonsynonymous PGDX330 NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog CCDS5118.1 chr6_118122025-118122025_C_G 227A>G Substitution 14% coding Nonsynonymous PGDX330 OR10J1 olfactory receptor; family 10; subfamily J; member 1 CCDS1185.1 chr1_157676237-157676237_A_T 22D>V Substitution 35% coding Nonsynonymous PGDX330 OR1C1 olfactory receptor; family 1; subfamily C; member 1 CCDS41481.1 chr1_245988019-245988019_C_T 105V>I Substitution 42% coding Nonsynonymous PGDX330 OR6C6 olfactory receptor; family 6; subfamily C; member 6 CCDS31817.1 chr12_53975099-53975099_C_T 62R>H Substitution 31% coding PALM2- Nonsynonymous PGDX330 PALM2-AKAP2 readthrough CCDS35100.1 chr9_111940088-111940088_G_A 815E>K Substitution 30% AKAP2 coding Nonsynonymous PGDX330 PAPPA2 pappalysin 2 CCDS41438.1 chr1_174792674-174792674_G_A 198R>H Substitution 34% coding Nonsynonymous PGDX330 PBRM1 polybromo 1 CCDS2859.1 chr3_52563917-52563917_G_A 1404P>L Substitution 40% coding Nonsynonymous PGDX330 PKHD1 polycystic kidney and hepatic disease 1 CCDS4935.1 chr6_52037754-52037754_G_A 312R>W Substitution 39% coding Nonsynonymous PGDX330 PLEKHM1 Pleckstrin homology domain-containing family M member 1 CCDS32671.1 chr17_40908745-40908745_C_T 143A>T Substitution 13% coding Nonsynonymous PGDX330 PRRT2 proline-rich transmembrane protein 2 CCDS10654.1 chr16_29732526-29732526_G_A 217R>Q Substitution 56% coding Nonsynonymous PGDX330 RAB20 RAB20; member RAS oncogene family CCDS9512.1 chr13_109974285-109974285_C_T 145A>T Substitution 31% coding Nonsynonymous PGDX330 REN renin CCDS30981.1 chr1_202396369-202396369_A_C 145L>R Substitution 36% coding Nonsynonymous PGDX330 RP1L1 retinitis pigmentosa 1-like 1 CCDS43708.1 chr8_10507085-10507085_C_T 645A>T Substitution 48% coding Nonsynonymous PGDX330 RYR1 ryanodine receptor 1 (skeletal) CCDS33011.1 chr19_43650134-43650134_C_T 1075R>W Substitution 30% coding Nonsynonymous PGDX330 RYR1 ryanodine receptor 1 (skeletal) CCDS33011.1 chr19_43707933-43707933_C_T 3526A>V Substitution 37% coding PGDX330 SLC38A1 solute carrier family 38; member 1 ENST00000354341 chr12_44868907-44868907_C_ NA Deletion Frameshift 35% Nonsynonymous PGDX330 SLC7A14 solute carrier family 7; member 14 CCDS33892.1 chr3_171683839-171683839_G_A 358P>L Substitution 37% coding Nonsynonymous PGDX330 SLC8A2 solute carrier family 8 (sodium/calcium exchanger); member 2 CCDS33065.1 chr19_52627436-52627436_G_A 730T>M Substitution 39% coding PGDX330 SNPH syntaphilin NM_001136566 chr20_1182973-1182973_C_T 515R>X Substitution Nonsense 27% Nonsynonymous PGDX330 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa ENST00000300413 chr18_17446338-17446338_G_T 14V>F Substitution 28% coding Nonsynonymous PGDX330 SPOCK3 sparc/osteonectin; cwcv and kazal-like domains proteoglycan 3 CCDS34095.1 chr4_167912413-167912413_C_T 251G>D Substitution 40% coding Nonsynonymous PGDX330 STIM1 stromal interaction molecule 1 CCDS7749.1 chr11_4064312-4064312_C_T 502R>C Substitution 30% coding Nonsynonymous PGDX330 STOML3 stomatin (EPB72)-like 3 CCDS9367.1 chr13_38448706-38448706_C_T 67R>H Substitution 38% coding PGDX330 SYCP1 synaptonemal complex protein 1 CCDS879.1 chr1_115229702-115229705_CAAT_ NA Deletion Frameshift 29% Nonsynonymous PGDX330 TBX15 T-box 15 ENST00000369429 chr1_119275898-119275898_C_T 96A>T Substitution 36% coding Nonsynonymous PGDX330 TLR6 toll-like receptor 6 CCDS3446.1 chr4_38505613-38505613_C_T 626R>H Substitution 29% coding Nonsynonymous PGDX330 TOX3 TOX high mobility group box family member 3 NM_001080430 chr16_51037587-51037587_C_A 242K>N Substitution 41% coding Nonsynonymous PGDX330 TRAF3IP3 TRAF3 interacting protein 3 CCDS1490.1 chr1_208002612-208002612_C_A 139P>T Substitution 22% coding Nonsynonymous PGDX330 TTN titin ENST00000375038 chr2_179171771-179171771_C_T 14953V>M Substitution 34% coding Nonsynonymous PGDX330 ULK4 unc-51-like kinase 4 (C. elegans) CCDS43071.1 chr3_41721770-41721770_G_A 889T>M Substitution 40% coding Nonsynonymous PGDX330 VENTX VENT homeobox homolog (Xenopus laevis) CCDS7675.1 chr10_134903238-134903238_C_T 104R>C Substitution 57% coding Nonsynonymous PGDX330 ZNF608 zinc finger protein 608 CCDS34219.1 chr5_124011124-124011124_G_A 951S>F Substitution 42% coding Nonsynonymous PGDX331 AC060834.8 Uncharacterized protein ENST00000361014 chr7_9734294-9734294_G_A 420V>I Substitution 16% coding Nonsynonymous PGDX331 ARRDC5 arrestin domain-containing protein 5 NM_001080523 chr19_4847708-4847708_G_A 159T>I Substitution 13% coding Nonsynonymous PGDX331 C1QTNF6 C1q and tumor necrosis factor related protein 6 CCDS13943.1 chr22_35911258-35911258_G_A 79R>C Substitution 15% coding PGDX331 C2orf76 chromosome 2 open reading frame 76 CCDS42739.1 chr2_119785752-119785752_A_ NA Deletion Splice site acceptor 13% Nonsynonymous PGDX331 CECR2 cat eye syndrome chromosome region; candidate 2 ENST00000400585 chr22_16402492-16402492_C_T 865A>V Substitution 28% coding Nonsynonymous PGDX331 CYSLTR1 cysteinyl leukotriene receptor 1 CCDS14439.1 chrX_77414985-77414985_C_A 305R>S Substitution 19% coding Nonsynonymous PGDX331 DOCK4 dedicator of cytokinesis protein 4 NM_014705 chr7_111343093-111343093_C_G 390G>A Substitution 17% coding Nonsynonymous PGDX331 GALC galactosylceramidase CCDS9878.2 chr14_87483909-87483909_G_A 469L>F Substitution 11% coding Nonsynonymous PGDX331 IQCD IQ motif containing D CCDS9167.1 chr12_112129920-112129920_C_T 145M>I Substitution 18% coding Nonsynonymous PGDX331 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25289551-25289551_C_A 12G>V Substitution 15% coding Nonsynonymous PGDX331 LPAR3 lysophosphatidic acid receptor 3 CCDS700.1 chr1_85104234-85104234_G_A 53A>V Substitution 15% coding Nonsynonymous PGDX331 MYH10 myosin; heavy chain 10; non-muscle CCDS11144.1 chr17_8467130-8467130_G_A 54R>W Substitution 12% coding Nonsynonymous PGDX331 MYH3 myosin; heavy chain 3; skeletal muscle; embryonic CCDS11157.1 chr17_10490038-10490038_G_A 312P>L Substitution 15% coding Nonsynonymous PGDX331 SMYD5 SMYD family member 5 CCDS33221.2 chr2_73302468-73302468_G_A 182D>N Substitution 13% coding Nonsynonymous PGDX331 TMEM2 transmembrane protein 2 CCDS6638.1 chr9_73490125-73490125_A_T 1320S>R Substitution 13% coding Nonsynonymous PGDX331 TMEM2 transmembrane protein 2 CCDS6638.1 chr9_73490126-73490126_C_G 1320S>T Substitution 11% coding Nonsynonymous PGDX331 TOP2B DNA topoisomerase 2-beta NM_001068 chr3_25641280-25641280_C_T 743R>Q Substitution 12% coding Nonsynonymous PGDX331 TP53 tumor protein p53 CCDS11118.1 chr17_7518273-7518273_C_T 245G>S Substitution 22% coding Nonsynonymous PGDX331 USP31 ubiquitin specific peptidase 31 CCDS10607.1 chr16_22998872-22998872_G_A 691P>L Substitution 16% coding PGDX331 XPC xeroderma pigmentosum; complementation group C ENST00000285021 chr3_14194970-14194972_CCT_ 34ED>D Deletion In-frame deletion 12% Nonsynonymous PGDX331 ZNF609 zinc finger protein 609 CCDS32270.1 chr15_62753215-62753215_G_A 370G>D Substitution 18% coding Nonsynonymous PGDX368T ABCC2 ATP-binding cassette; sub-family C (CFTR/MRP); member 2 CCDS7484.1 chr10_101568568-101568568_G_A 768R>Q Substitution 12% coding Nonsynonymous PGDX368T C17orf66 chromosome 17 open reading frame 66 CCDS11299.1 chr17_31206295-31206295_G_A 533T>M Substitution 11% coding Nonsynonymous PGDX368T C1QTNF1 C1q and tumor necrosis factor related protein 1 CCDS11761.1 chr17_74555595-74555595_G_A 226G>S Substitution 14% coding Nonsynonymous PGDX368T C7orf28A chromosome 7 open reading frame 28A CCDS34597.1 chr7_5911318-5911318_C_T 197P>L Substitution 10% coding Nonsynonymous PGDX368T CACNA1I calcium channel; voltage-dependent; T type; alpha 1I subunit NM_021096 chr22_38384232-38384232_G_A 708D>N Substitution 11% coding Nonsynonymous PGDX368T ERBB2IP erbb2 interacting protein CCDS3990.1 chr5_65386105-65386105_C_T 1068A>V Substitution 11% coding Nonsynonymous PGDX368T FIBIN fin bud initiation factor homolog (zebrafish) CCDS7861.1 chr11_26972923-26972923_G_A 92E>K Substitution 11% coding Nonsynonymous PGDX368T GRIN2C glutamate receptor; ionotropic; N-methyl D-aspartate 2C CCDS32724.1 chr17_70359967-70359967_C_A 260G>C Substitution 10% coding PGDX368T GTPBP4 GTP binding protein 4 CCDS31132.1 chr10_1032186-1032186_C_G NA Substitution Splice site donor 14% Nonsynonymous PGDX368T IAPP islet amyloid polypeptide CCDS8688.1 chr12_21422499-21422499_T_A 48F>I Substitution 12% coding Nonsynonymous PGDX368T KIAA1486 uncharacterized protein NM_020864 chr2_226154984-226154984_C_G 203L>V Substitution 14% coding Nonsynonymous PGDX368T KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25271542-25271542_T_G 61Q>H Substitution 21% coding Nonsynonymous PGDX368T KRT86 keratin 86 CCDS41785.1 chr12_50985300-50985300_G_A 249V>I Substitution 12% coding PGDX368T SLC41A2 solute carrier family 41; member 2 CCDS9100.1 chr12_103784403-103784403_G_ NA Deletion Frameshift 10% PGDX368T SMAD4 SMAD family member 4 CCDS11950.1 chr18_46840284-46840284__G NA Insertion Frameshift 11% Nonsynonymous PGDX368T SULF2 sulfatase 2 CCDS13408.1 chr20_45819501-45819501_C_T 5S>N Substitution 11% coding Nonsynonymous PGDX368T ZDBF2 DBF4-type zinc finger-containing protein 2 NM_020923 chr2_206882313-206882313_C_T 1606R>W Substitution 14% coding Nonsynonymous PGDX368T ZNF592 zinc finger protein 592 CCDS32317.1 chr15_83128514-83128514_A_G 535Q>R Substitution 14% coding ariadne homolog; ubiquitin-conjugating enzyme E2 binding Nonsynonymous PGDX369T ARIH1 CCDS10244.1 chr15_70624288-70624288_C_T 173R>C Substitution 10% protein; 1 coding PGDX369T COL15A1 collagen; type XV; alpha 1 CCDS35081.1 chr9_100864408-100864408_G_A NA Substitution Splice site donor 27% Nonsynonymous PGDX369T CSMD1 CUB and sushi domain-containing protein 1 precursor NM_033225 chr8_2996426-2996426_C_T 1978A>T Substitution 19% coding Nonsynonymous PGDX369T DDX6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 NM_004397 chr11_118130791-118130791_A_G 431L>P Substitution 11% coding Nonsynonymous PGDX369T DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 CCDS9261.1 chr12_124014971-124014971_C_T 656R>H Substitution 14% coding Nonsynonymous PGDX369T DOCK3 dedicator of cytokinesis 3 ENST00000402669 chr3_51171726-51171726_C_A 280S>R Substitution 13% coding PGDX369T HERC3 hect domain and RLD 3 CCDS34028.1 chr4_89804347-89804347_C_T 431S>F Substitution Nonsynonymous 32% coding Nonsynonymous PGDX369T HMCN1 hemicentin 1 CCDS30956.1 chr1_184233252-184233252_C_T 1283R>C Substitution 17% coding PGDX369T HNRNPU heterogeneous nuclear ribonucleoprotein U CCDS41479.1 chr1_243086379-243086379_T_C NA Substitution Splice site donor 15% Nonsynonymous PGDX369T IQSEC1 IQ motif and Sec7 domain 1 CCDS33703.1 chr3_12937020-12937020_C_T 658A>T Substitution 14% coding Nonsynonymous PGDX369T KLHL22 Kelch-like protein 22 CCDS13780.1 chr22_19126527-19126527_C_G 580D>H Substitution 22% coding PGDX369T KLHL22 Kelch-like protein 22 CCDS13780.1 chr22_19126545-19126545_C_A 574E>X Substitution Nonsense 25% Nonsynonymous PGDX369T KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25289552-25289552_C_G 12G>R Substitution 12% coding Nonsynonymous PGDX369T MPO myeloperoxidase CCDS11604.1 chr17_53710298-53710298_C_T 365V>I Substitution 21% coding Nonsynonymous PGDX369T OR1A1 olfactory receptor; family 1; subfamily A; member 1 CCDS11022.1 chr17_3066101-3066101_C_T 146A>V Substitution 22% coding Nonsynonymous PGDX369T PHLDA2 pleckstrin homology-like domain; family A; member 2 CCDS7741.1 chr11_2906821-2906821_G_C 117T>S Substitution 14% coding Nonsynonymous PGDX369T PKD1L1 polycystic kidney disease 1 like 1 CCDS34633.1 chr7_47817980-47817980_C_T 2514R>H Substitution 18% coding Nonsynonymous PGDX369T PLXNB2 plexin B2 CCDS43035.1 chr22_49058541-49058541_A_T 1639F>Y Substitution 21% coding Nonsynonymous PGDX369T PLXNB2 plexin B2 CCDS43035.1 chr22_49058542-49058542_A_T 1639F>I Substitution 20% coding Nonsynonymous PGDX369T RIMS2 regulating synaptic membrane exocytosis 2 CCDS43761.1 chr8_105332503-105332503_C_T 1070T>M Substitution 12% coding Nonsynonymous PGDX369T RNF112 ring finger protein 112 ENST00000299604 chr17_19259970-19259970_G_T 597V>F Substitution 42% coding Nonsynonymous PGDX369T SETBP1 SET binding protein 1 CCDS11923.1 chr18_40897540-40897540_C_T 1503P>L Substitution 26% coding Nonsynonymous PGDX369T SLC28A3 solute carrier family 28; member 3 CCDS6670.1 chr9_86082969-86082969_A_T 687I>N Substitution 12% coding PGDX369T SMAD4 SMAD family member 4 CCDS11950.1 chr18_46857030-46857030_C_ NA Deletion Frameshift 19% Nonsynonymous PGDX369T STXBP5L syntaxin binding protein 5-like CCDS43137.1 chr3_122582875-122582875_C_A 822S>Y Substitution 17% coding Nonsynonymous PGDX369T TBC1D12 TBC1 domain family; member 12 CCDS41553.1 chr10_96281115-96281115_C_A 723L>I Substitution 12% coding Nonsynonymous PGDX369T TP53 tumor protein p53 CCDS11118.1 chr17_7518264-7518264_G_A 248R>W Substitution 11% coding Nonsynonymous PGDX369T UNC13A protein unc-13 homolog A NM_001080421 chr19_17617912-17617912_C_T 773A>T Substitution 12% coding PGDX369T WAC WW domain containing adaptor with coiled-coil CCDS7159.1 chr10_28918788-28918788_T_A NA Substitution Splice site donor 13% PGDX379T2 BAP1 BRCA1 associated protein-1 CCDS2853.1 chr3_52414223-52414223__A NA Insertion Frameshift 6% Nonsynonymous PGDX379T2 C1QL2 complement component 1; q subcomponent-like 2 CCDS42737.1 chr2_119632236-119632236_C_T 27G>D Substitution 14% coding Nonsynonymous PGDX379T2 CASZ1 castor zinc finger 1 CCDS41246.1 chr1_10622206-10622206_T_G 1554S>R Substitution 10% coding Nonsynonymous PGDX379T2 CEP290 centrosomal protein of 290 kDa NM_025114 chr12_87010632-87010632_C_T 1140E>K Substitution 17% coding Nonsynonymous PGDX379T2 COL4A6 collagen; type IV; alpha 6 CCDS14541.1 chrX_107287047-107287047_C_T 1639A>T Substitution 13% coding Nonsynonymous PGDX379T2 DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 CCDS4977.1 chr6_74181024-74181024_G_A 547A>T Substitution 15% coding Nonsynonymous PGDX379T2 FAM18B2 family with sequence similarity 18; member B2 CCDS32572.1 chr17_15282107-15282107_C_T 55R>H Substitution 11% coding Nonsynonymous PGDX379T2 GPAT2 glycerol-3-phosphate acyltransferase 2; mitochondrial CCDS42714.1 chr2_96052656-96052656_G_A 692R>C Substitution 18% coding PGDX379T2 ILF3 interleukin enhancer binding factor 3; 90kDa CCDS12247.1 chr19_10656145-10656145_G_A NA Substitution 3' UTR 11% Nonsynonymous PGDX379T2 KAT2A K(lysine) acetyltransferase 2A CCDS11417.1 chr17_37523245-37523245_G_A 469P>S Substitution 12% coding PGDX379T2 MIER1 mesoderm induction early response 1 homolog CCDS41348.1 chr1_67178296-67178298_CAG_ NA Deletion Splice site acceptor 57% PGDX379T2 MYLK myosin light chain kinase CCDS3023.1 chr3_124850734-124850734__G NA Insertion Splice site acceptor 10% Nonsynonymous PGDX379T2 MYOM1 myomesin-1 isoform a NM_003803 chr18_3177481-3177481_G_A 309T>M Substitution 10% coding Nonsynonymous PGDX379T2 NOM1 nucleolar protein with MIF4G domain 1 CCDS34787.1 chr7_156435227-156435227_C_T 12P>L Substitution 13% coding PGDX379T2 OPA1 optic atrophy 1 (autosomal dominant) CCDS33917.1 chr3_194859460-194859460_C_T 790Q>X Substitution Nonsense 11% Nonsynonymous PGDX379T2 PFKFB3 6-phosphofructo-2-kinase/fructose-2;6-biphosphatase 3 CCDS7078.1 chr10_6303709-6303709_G_A 360G>R Substitution 14% coding Nonsynonymous PGDX379T2 PRM1 protamine 1 CCDS10547.1 chr16_11282565-11282565_C_A 11S>I Substitution 11% coding PGDX379T2 RABEPK Rab9 effector protein with kelch motifs CCDS6862.1 chr9_127030006-127030006_C_T NA Substitution Splice site acceptor 10% Nonsynonymous PGDX379T2 SACS spastic ataxia of Charlevoix-Saguenay (sacsin) CCDS9300.1 chr13_22804317-22804317_C_T 3753E>K Substitution 11% coding Nonsynonymous PGDX379T2 SLC12A7 solute carrier family 12; member 7 CCDS34129.1 chr5_1138552-1138552_C_T 238E>K Substitution 11% coding Nonsynonymous PGDX379T2 SLC35B2 solute carrier family 35; member B2 CCDS34462.1 chr6_44330573-44330573_A_T 383C>S Substitution 10% coding PGDX379T2 SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) CCDS33219.1 chr2_69983882-69983882_G_A NA Substitution Splice site donor 19% Nonsynonymous PGDX379T2 SP140L nuclear body protein SP140-like protein NM_138402 chr2_230932091-230932091_G_A 147A>T Substitution 17% coding PGDX379T2 TARS threonyl-tRNA synthetase CCDS3899.1 chr5_33496755-33496757_TCT_ 418L> Deletion In-frame deletion 12% Nonsynonymous PGDX379T2 TBX3 T-box 3 CCDS9176.1 chr12_113594271-113594271_C_T 664A>T Substitution 21% coding Nonsynonymous PGDX39T ABCA13 ATP-binding cassette; sub-family A (ABC1); member 13 ENST00000319379 chr7_48282120-48282120A_C 716S>R Substitution 11% coding Nonsynonymous PGDX39T ABCA13 ATP-binding cassette; sub-family A (ABC1); member 13 ENST00000319379 chr7_48288282-48288282A_C 2260Q>H Substitution 11% coding Nonsynonymous PGDX39T ABCC1 ATP-binding cassette; sub-family C (CFTR/MRP); member 1 CCDS42122.1 chr16_16084794-16084794G_A 729G>E Substitution 24% coding Nonsynonymous PGDX39T ABI3BP ABI family; member 3 (NESH) binding protein ENST00000273339 chr3_102041121-102041121G_C 651P>A Substitution 33% coding Nonsynonymous PGDX39T ACSM2A acyl-CoA synthetase medium-chain family member 2A CCDS10586.1 chr16_20474133-20474133C_A 185E>D Substitution 11% coding Nonsynonymous PGDX39T ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif; 14 CCDS7307.1 chr10_72190172-72190172G_A 1080D>N Substitution 24% coding PGDX39T ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif; 5 CCDS13579.1 chr21_27226190-27226190T_G NA Substitution Splice site 15% Nonsynonymous PGDX39T AFF2 AF4/FMR2 family; member 2 CCDS14684.1 chrX_147852152-147852152A_G 968I>V Substitution 12% coding Nonsynonymous PGDX39T AHCYL1 adenosylhomocysteinase-like 1 CCDS818.1 chr1_110356552-110356552A_C 141K>T Substitution 11% coding Nonsynonymous PGDX39T AKAP12 A kinase (PRKA) anchor protein 12 CCDS5229.1 chr6_151711599-151711599A_C 127K>T Substitution 13% coding Nonsynonymous PGDX39T AKAP3 A kinase (PRKA) anchor protein 3 CCDS8531.1 chr12_4607667-4607667T_G 221K>T Substitution 12% coding Nonsynonymous PGDX39T ALDH8A1 aldehyde dehydrogenase 8 family; member A1 CCDS5171.1 chr6_135281631-135281631T_G 360K>T Substitution 11% coding Nonsynonymous PGDX39T AMPD3 adenosine monophosphate deaminase 3 CCDS7802.1 chr11_10439842-10439842A_C 76K>T Substitution 10% coding Nonsynonymous PGDX39T ANKRD30A ankyrin repeat domain 30A CCDS7193.1 chr10_37473962-37473962A_G 420E>G Substitution 19% coding Nonsynonymous PGDX39T ANKRD50 ankyrin repeat domain 50 CCDS34060.1 chr4_125811196-125811196C_A 896V>F Substitution 16% coding Nonsynonymous PGDX39T APBA2 amyloid beta (A4) precursor protein-binding; family A; member 2 CCDS10022.1 chr15_27187850-27187850A_T 668K>M Substitution 15% coding PGDX39T APC adenomatous polyposis coli CCDS4107.1 chr5_112203134-112203134C_G 1315S>X Substitution Nonsense 43% Nonsynonymous PGDX39T APC adenomatous polyposis coli CCDS4107.1 chr5_112203760-112203760A_T 1524I>L Substitution 13% coding Nonsynonymous PGDX39T ARF1 ADP-ribosylation factor 1 CCDS1565.1 chr1_226351735-226351735A_C 73K>T Substitution 12% coding 5-aminoimidazole-4-carboxamide ribonucleotide PGDX39T ATIC CCDS2398.1 chr2_215906383-215906383A_ NA Deletion Frameshift 12% formyltransferase Nonsynonymous PGDX39T ATXN2L ataxin 2-like CCDS10640.1 chr16_28754990-28754990A_C 1044D>A Substitution 15% coding Nonsynonymous PGDX39T BAZ2B bromodomain adjacent to zinc finger domain; 2B CCDS2209.2 chr2_160013116-160013116A_C 129F>V Substitution 10% coding Nonsynonymous PGDX39T BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) CCDS1862.1 chr2_60542090-60542090T_A 487E>D Substitution 16% coding Nonsynonymous PGDX39T BEND5 BEN domain containing 5 CCDS552.1 chr1_48966205-48966205C_A 233M>I Substitution 30% coding Nonsynonymous PGDX39T BTBD12 BTB (POZ) domain containing 12 CCDS10506.2 chr16_3573511-3573511A_C 1581F>V Substitution 15% coding Nonsynonymous PGDX39T C1orf129 chromosome 1 open reading frame 129 CCDS41436.1 chr1_169181331-169181331A_T 4R>W Substitution 13% coding Nonsynonymous PGDX39T C1orf156 chromosome 1 open reading frame 156 CCDS1284.1 chr1_168029129-168029129T_G 111K>T Substitution 11% coding Nonsynonymous PGDX39T CABP1 calcium binding protein 1 CCDS31913.1 chr12_119583300-119583300G_A 328R>Q Substitution 13% coding Nonsynonymous PGDX39T CCDC60 coiled-coil domain containing 60 CCDS9190.1 chr12_118446006-118446006A_C 410K>T Substitution 11% coding Nonsynonymous PGDX39T CD96 CD96 molecule CCDS2959.1 chr3_112802367-112802367T_G 351L>V Substitution 14% coding Nonsynonymous PGDX39T CDK11B Homo sapiens cyclin-dependent kinase 11B NM_033486 chr1_1565511-1565511G_A 412P>L Substitution 11% coding Nonsynonymous PGDX39T CDK8 cyclin-dependent kinase 8 CCDS9317.1 chr13_25854999-25854999G_A 169V>I Substitution 36% coding Nonsynonymous PGDX39T CDYL2 chromodomain protein; Y-like 2 CCDS32493.1 chr16_79276325-79276325T_C 76K>R Substitution 12% coding Nonsynonymous PGDX39T CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 CCDS5828.1 chr7_132120948-132120948T_G 225K>T Substitution 17% coding PGDX39T CHD5 chromodomain helicase DNA binding protein 5 CCDS57.1 chr1_6124830-6124830T_C 794E>G Substitution Nonsynonymous 11% coding Nonsynonymous PGDX39T CHRM4 Homo sapiens cholinergic receptor NM_000741 chr11_46363920-46363920T_C 255K>R Substitution 15% coding Nonsynonymous PGDX39T CLASP2 Homo sapiens cytoplasmic linker associated protein 2 NM_015097 chr3_33623950-33623950C_T 486A>T Substitution 30% coding PGDX39T COL1A2 collagen; type I; alpha 2 CCDS34682.1 chr7_93879370-93879370G_A NA Substitution Splice site 43% Nonsynonymous PGDX39T COL6A3 collagen; type VI; alpha 3 CCDS33412.1 chr2_237968239-237968239C_T 147V>I Substitution 25% coding Nonsynonymous PGDX39T CRB1 crumbs homolog 1 (Drosophila) CCDS1390.1 chr1_195657311-195657311C_T 577A>V Substitution 13% coding Nonsynonymous PGDX39T CSMD1 CUB and Sushi multiple domains 1 NM_033225 chr8_2953644-2953644T_C 2215S>G Substitution 18% coding Nonsynonymous PGDX39T CSMD3 CUB and Sushi multiple domains 3 CCDS6315.1 chr8_113598485-113598485C_A 1570Q>H Substitution 13% coding cleavage stimulation factor; 3' pre-RNA; subunit 2; 64kDa; tau Nonsynonymous PGDX39T CSTF2T CCDS7245.1 chr10_53128447-53128447A_G 290L>P Substitution 17% variant coding Nonsynonymous PGDX39T CUL7 cullin 7 CCDS4881.1 chr6_43125251-43125251T_C 566K>R Substitution 16% coding Nonsynonymous PGDX39T DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 CCDS842.1 chr1_112110324-112110324G_C 585Q>H Substitution 14% coding Nonsynonymous PGDX39T DMXL2 Dmx-like 2 CCDS10141.1 chr15_49655621-49655621C_T 46C>Y Substitution 20% coding PGDX39T DNAH7 dynein; axonemal; heavy chain 7 CCDS42794.1 chr2_196620317-196620317T_G NA Substitution Splice site 13% Nonsynonymous PGDX39T DNAH7 dynein; axonemal; heavy chain 7 CCDS42794.1 chr2_196464727-196464727T_C 1648K>R Substitution 14% coding Nonsynonymous PGDX39T DNAH9 dynein; axonemal; heavy chain 9 CCDS11160.1 chr17_11513577-11513577G_A 1032G>R Substitution 32% coding Nonsynonymous PGDX39T DNMT1 DNA (cytosine-5-)-methyltransferase 1 CCDS12228.1 chr19_10123447-10123447T_C 683K>R Substitution 11% coding Nonsynonymous PGDX39T EGF epidermal growth factor CCDS3689.1 chr4_111103819-111103819G_A 452V>I Substitution 21% coding PGDX39T EGFR epidermal growth factor receptor CCDS5514.1 chr7_55192944-55192944A_T NA Substitution Splice site 10% Nonsynonymous PGDX39T ENOSF1 enolase superfamily member 1 CCDS11822.1 chr18_696481-696481C_T 61G>D Substitution 43% coding Nonsynonymous PGDX39T EPHA5 EPH receptor A5 CCDS3513.1 chr4_65925313-65925313T_C 618I>M Substitution 17% coding Nonsynonymous PGDX39T EPHB2 EPH receptor B2 CCDS230.1 chr1_23092033-23092033G_A 500A>T Substitution 12% coding excision repair cross-complementing rodent repair deficiency; Nonsynonymous PGDX39T ERCC8 CCDS3978.1 chr5_60222532-60222532T_G 328T>P Substitution 13% complementation group 8 coding PGDX39T ERMAP erythroblast membrane-associated protein (Scianna blood group) CCDS475.1 chr1_43077183-43077183A_G NA Substitution Splice site 10% Nonsynonymous PGDX39T FAM129A family with sequence similarity 129; member A CCDS1364.1 chr1_183031606-183031606T_G 639S>R Substitution 11% coding Nonsynonymous PGDX39T FCRL4 Fc receptor-like 4 CCDS1166.1 chr1_155823771-155823771A_C 256S>A Substitution 10% coding PGDX39T FMR1 fragile X mental retardation 1 CCDS14682.1 chrX_146826741-146826741_A NA Insertion Frameshift 45% Nonsynonymous PGDX39T FN1 fibronectin 1 CCDS42814.1 chr2_215945323-215945323T_A 2090T>S Substitution 16% coding Nonsynonymous PGDX39T FUT8 fucosyltransferase 8 (alpha (1;6) fucosyltransferase) CCDS9775.1 chr14_65098162-65098162T_C 43L>P Substitution 13% coding Nonsynonymous PGDX39T GABRA6 gamma-aminobutyric acid (GABA) A receptor; alpha 6 CCDS4356.1 chr5_161045843-161045843T_A 23V>D Substitution 11% coding Nonsynonymous PGDX39T GALNT3 UDP-N-acetyl-alpha-D-galactosamine (GalNAc-T3) CCDS2226.1 chr2_166335275-166335275T_G 61K>T Substitution 14% coding Nonsynonymous PGDX39T GALNT5 UDP-N-acetyl-alpha-D-galactosamine (GalNAc-T5) CCDS2203.1 chr2_157823155-157823155G_C 105L>F Substitution 12% coding Nonsynonymous PGDX39T GCK glucokinase (hexokinase 4) CCDS5480.1 chr7_44165208-44165208C_A 13A>S Substitution 11% coding Nonsynonymous PGDX39T GFM1 G elongation factor; mitochondrial 1 CCDS33885.1 chr3_159846131-159846131G_A 34R>Q Substitution 12% coding Nonsynonymous PGDX39T GPR112 G protein-coupled receptor 112 CCDS35409.1 chrX_135260186-135260186A_C 2219T>P Substitution 18% coding Nonsynonymous PGDX39T GPR115 G protein-coupled receptor 115 CCDS4922.2 chr6_47788247-47788247T_G 166L>V Substitution 16% coding Nonsynonymous PGDX39T GPR139 G protein-coupled receptor 139 CCDS32398.1 chr16_19951049-19951049C_T 191V>I Substitution 29% coding Nonsynonymous PGDX39T GPR174 G protein-coupled receptor 174 CCDS14443.1 chrX_78313413-78313413C_T 85P>S Substitution 22% coding Nonsynonymous PGDX39T GRM1 glutamate receptor; metabotropic 1 CCDS5209.1 chr6_146762330-146762330T_C 821L>P Substitution 16% coding Nonsynonymous PGDX39T HPS5 Hermansky-Pudlak syndrome 5 CCDS7836.1 chr11_18275104-18275104T_C 443S>G Substitution 12% coding Nonsynonymous PGDX39T HUWE1 HECT; UBA and WWE domain containing 1 CCDS35301.1 chrX_53579164-53579164T_G 4185E>D Substitution 18% coding Nonsynonymous PGDX39T IL1F7 interleukin 1 family; member 7 (zeta) CCDS2103.1 chr2_113387902-113387902A_G 49S>G Substitution 18% coding Nonsynonymous PGDX39T ILDR1 immunoglobulin-like domain containing receptor 1 CCDS3008.1 chr3_123208534-123208534A_T 75S>T Substitution 12% coding Nonsynonymous PGDX39T ILF3 interleukin enhancer binding factor 3; 90kDa CCDS12246.1 chr19_10654886-10654886A_C 541Y>S Substitution 14% coding Nonsynonymous PGDX39T JPH1 junctophilin 1 CCDS6217.1 chr8_75319631-75319631T_C 531K>R Substitution 11% coding potassium voltage-gated channel; subfamily H (eag-related); Nonsynonymous PGDX39T KCNH8 CCDS2632.1 chr3_19411768-19411768A_C 380M>L Substitution 14% member 8 coding Nonsynonymous PGDX39T KCNJ10 potassium inwardly-rectifying channel; subfamily J; member 10 CCDS1193.1 chr1_158278230-158278230T_G 239Q>H Substitution 13% coding Nonsynonymous PGDX39T KCNJ11 potassium inwardly-rectifying channel; subfamily J; member 11 CCDS31436.1 chr11_17365599-17365599G_A 206R>C Substitution 13% coding Nonsynonymous PGDX39T KDM5A lysine (K)-specific demethylase 5A CCDS41736.1 chr12_292503-292503C_T 1006A>T Substitution 18% coding Nonsynonymous PGDX39T KHDC1 KH homology domain containing 1 CCDS43480.1 chr6_74008130-74008130T_A 113N>I Substitution 14% coding Nonsynonymous PGDX39T LARP4 La ribonucleoprotein domain family; member 4 CCDS41782.1 chr12_49154161-49154161A_C 594S>R Substitution 13% coding Nonsynonymous PGDX39T LRRC32 leucine rich repeat containing 32 CCDS8245.1 chr11_76048847-76048847C_A 480E>X Substitution 41% coding Nonsynonymous PGDX39T LSR lipolysis stimulated lipoprotein receptor CCDS12450.1 chr19_40450217-40450217G_T 552D>Y Substitution 12% coding Nonsynonymous PGDX39T LTA4H leukotriene A4 hydrolase CCDS9059.1 chr12_94924248-94924248T_C 502E>G Substitution 12% coding Nonsynonymous PGDX39T LTBP4 latent transforming growth factor beta binding protein 4 ENST00000308370 chr19_45806289-45806289G_A 523G>S Substitution 17% coding Nonsynonymous PGDX39T MAP4 microtubule-associated protein 4 CCDS33750.1 chr3_47932894-47932894T_A 476K>M Substitution 12% coding Nonsynonymous PGDX39T MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 CCDS41948.1 chr14_46574164-46574164G_T 242P>H Substitution 10% coding Nonsynonymous PGDX39T MKL2 MKL/myocardin-like 2 CCDS32391.1 chr16_14214912-14214912T_C 96F>L Substitution 14% coding Nonsynonymous PGDX39T MKX mohawk homeobox CCDS7156.1 chr10_28063542-28063542G_T 229D>E Substitution 12% coding Nonsynonymous PGDX39T MORC1 MORC family CW-type zinc finger 1 CCDS2955.1 chr3_110206671-110206671T_A 650N>I Substitution 17% coding Nonsynonymous PGDX39T MRPL44 mitochondrial ribosomal protein L44 CCDS2459.1 chr2_224532830-224532830A_C 172N>T Substitution 14% coding Nonsynonymous PGDX39T MTF1 metal-regulatory transcription factor 1 CCDS30676.1 chr1_38095757-38095757T_A 54D>V Substitution 10% coding Nonsynonymous PGDX39T MTMR4 myotubularin related protein 4 CCDS11608.1 chr17_53936447-53936447T_C 540N>S Substitution 13% coding Nonsynonymous PGDX39T MTRF1L mitochondrial translational release factor 1-like CCDS5243.1 chr6_153352729-153352729T_G 379K>N Substitution 12% coding PGDX39T MUC5B Homo sapiens mucin 5B NM_002458 chr11_1204685-1204685G_A NA Substitution Splice site 15% Nonsynonymous PGDX39T MXRA5 matrix-remodelling associated 5 CCDS14124.1 chrX_3252542-3252542A_G 395L>P Substitution 13% coding Nonsynonymous PGDX39T MYH1 myosin; heavy chain 1; skeletal muscle; adult CCDS11155.1 chr17_10344736-10344736T_C 1266K>R Substitution 15% coding Nonsynonymous PGDX39T NBAS neuroblastoma amplified sequence CCDS1685.1 chr2_15568849-15568849T_C 275R>G Substitution 12% coding Nonsynonymous PGDX39T NCAPG non-SMC condensin I complex; subunit G CCDS3424.1 chr4_17433833-17433833A_C 416E>D Substitution 12% coding Nonsynonymous PGDX39T NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex; 6; 14kDa CCDS33656.1 chr22_40816690-40816690G_A 28A>V Substitution 17% coding PGDX39T NFASC neurofascin homolog (chicken) CCDS30982.1 chr1_203248546-203248546A_T NA Substitution Splice site 14% Nonsynonymous PGDX39T NLRP3 NLR family; pyrin domain containing 3 CCDS1632.1 chr1_245653969-245653969A_G 201S>G Substitution 14% coding Nonsynonymous PGDX39T NMNAT2 nicotinamide nucleotide adenylyltransferase 2 CCDS1353.1 chr1_181520482-181520482C_T 172R>H Substitution 13% coding PGDX39T NOTCH2NL Notch homolog 2 (Drosophila) N-terminal like ENST00000362074 chr1_143920735-143920736CC_ NA Deletion Frameshift 13% Nonsynonymous PGDX39T OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF NM_001098623 chr1_226546458-226546458A_T 3526R>W Substitution 11% coding Nonsynonymous PGDX39T ODF4 outer dense fiber of sperm tails 4 CCDS11140.1 chr17_8189722-8189722T_C 201Y>H Substitution 15% coding Nonsynonymous PGDX39T OR1B1 olfactory receptor; family 1; subfamily B; member 1 CCDS35126.1 chr9_124431265-124431265C_T 124R>H Substitution 24% coding Nonsynonymous PGDX39T OR2B2 olfactory receptor; family 2; subfamily B; member 2 CCDS4641.1 chr6_27988005-27988005C_A 24E>D Substitution 15% coding Nonsynonymous PGDX39T OR5D13 olfactory receptor; family 5; subfamily D; member 13 CCDS31507.1 chr11_55297683-55297683T_G 65L>R Substitution 13% coding Nonsynonymous PGDX39T P2RY10 purinergic receptor P2Y; G-protein coupled; 10 CCDS14442.1 chrX_78103520-78103520G_A 283A>T Substitution 44% coding PGDX39T PADI4 peptidyl arginine deiminase; type IV CCDS180.1 chr1_17547133-17547133A_G NA Substitution Splice site 22% PGDX39T PAX3 paired box 3 CCDS2448.1 chr2_222774371-222774371T_A NA Substitution Splice site 11% PGDX39T PCDHB2 protocadherin beta 2 CCDS4244.1 chr5_140456884-140456884T_C 776F>L Substitution Nonsynonymous 11% coding Nonsynonymous PGDX39T PCDHGA4 protocadherin gamma subfamily A,4 NM_018917 chr5_140717010-140717010T_A 687S>T Substitution 13% coding Nonsynonymous PGDX39T PCDHGB5 protocadherin gamma subfamily B,5 NM_018925 chr5_140759491-140759491T_C 538L>P Substitution 13% coding Nonsynonymous PGDX39T PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) CCDS7567.1 chr10_112631080-112631080C_G 48S>C Substitution 17% coding Nonsynonymous PGDX39T PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) CCDS7567.1 chr10_112632825-112632825C_T 141P>S Substitution 15% coding Nonsynonymous PGDX39T PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) CCDS7567.1 chr10_112632826-112632826C_T 141P>L Substitution 14% coding PGDX39T PDE1A phosphodiesterase 1A; calmodulin-dependent CCDS2285.1 chr2_182837269-182837269T_G NA Substitution Splice site 26% Nonsynonymous PGDX39T PDE4C phosphodiesterase 4C CCDS12373.1 chr19_18182779-18182779G_A 700P>L Substitution 14% coding Nonsynonymous PGDX39T PHEX phosphate regulating endopeptidase homolog; X-linked CCDS14204.1 chrX_22106397-22106397A_C 523K>N Substitution 19% coding Nonsynonymous PGDX39T PHF2 PHD finger protein 2 CCDS35069.1 chr9_95467920-95467920A_G 690E>G Substitution 11% coding Nonsynonymous PGDX39T PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 CCDS31259.1 chr10_98401281-98401281G_A 277A>V Substitution 18% coding Nonsynonymous PGDX39T PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) CCDS4935.1 chr6_51720948-51720948G_A 3142T>I Substitution 11% coding PGDX39T PLCB4 phospholipase C; beta 4 CCDS13104.1 chr20_9386140-9386140A_G NA Substitution Splice site 11% PGDX39T PLCE1 phospholipase C; epsilon 1 CCDS41552.1 chr10_95780792-95780792A_C NA Substitution UTR 10% Nonsynonymous PGDX39T POLN polymerase (DNA directed) nu CCDS3360.1 chr4_2057194-2057194T_G 714K>T Substitution 10% coding Nonsynonymous PGDX39T PRUNE2 prune homolog 2 (Drosophila) NM_015225 chr9_78513504-78513504A_C 1169V>G Substitution 14% coding Nonsynonymous PGDX39T PTCHD3 patched domain containing 3 NM_001034842 chr10_27743136-27743136T_C 17K>R Substitution 11% coding Nonsynonymous PGDX39T PTDSS1 phosphatidylserine synthase 1 CCDS6271.1 chr8_97354765-97354765T_G 81L>R Substitution 11% coding Nonsynonymous PGDX39T PTPRT protein tyrosine phosphatase; receptor type; T CCDS42874.1 chr20_40414189-40414189C_T 571A>T Substitution 10% coding PGDX39T RB1CC1 RB1-inducible coiled-coil 1 CCDS34892.1 chr8_53705644-53705644A_ NA Substitution Splice site 19% Nonsynonymous PGDX39T RCN3 reticulocalbin 3; EF-hand calcium binding domain CCDS12771.1 chr19_54723662-54723662A_G 41S>G Substitution 11% coding Nonsynonymous PGDX39T RP11-414K1.3 RP11-414K1.3 ENST00000377597 chr10_17491360-17491360A_G 76R>G Substitution 11% coding RP11- Nonsynonymous PGDX39T RP11-642P15.1 ENST00000388789 chr12_102833396-102833396G_T 127S>Y Substitution 13% 642P15.1 coding Nonsynonymous PGDX39T RPAP2 RNA polymerase II associated protein 2 CCDS740.1 chr1_92562169-92562169A_C 368K>N Substitution 13% coding PGDX39T SCML2 sex comb on midleg-like 2 (Drosophila) CCDS14185.1 chrX_18184929-18184929A_ NA Substitution Frameshift 23% PGDX39T SH3BP4 SH3-domain binding protein 4 CCDS2513.1 chr2_235608382-235608382C_T NA Substitution UTR 25% Nonsynonymous PGDX39T SH3PXD2A SH3 and PX domains 2A CCDS31278.1 chr10_105352504-105352504C_T 793D>N Substitution 24% coding Nonsynonymous PGDX39T SHANK2 Homo sapiens SH3 and multiple ankyrin repeat domains 2 NM_133266 chr11_70010432-70010432A_G 617L>P Substitution 22% coding Nonsynonymous PGDX39T SLC11A2 solute carrier family 11; member 2 CCDS8805.1 chr12_49685434-49685434A_T 79L>H Substitution 12% coding PGDX39T SLC37A2 solute carrier family 37; member 2 CCDS31714.1 chr11_124460249-124460249A_T NA Substitution Splice site 12% solute carrier family 6 (neurotransmitter transporter; GABA); Nonsynonymous PGDX39T SLC6A13 CCDS8502.1 chr12_217362-217362T_C 185E>G Substitution 10% member 13 coding Nonsynonymous PGDX39T SPANXN5 SPANX family; member N5 CCDS35295.1 chrX_52842372-52842372A_C 34L>V Substitution 21% coding Nonsynonymous PGDX39T STARD8 StAR-related lipid transfer (START) domain containing 8 NM_001142503 chrX_67802088-67802088A_C 23K>T Substitution 11% coding Nonsynonymous PGDX39T STIM2 stromal interaction molecule 2 CCDS3440.1 chr4_26633551-26633551A_C 779K>N Substitution 13% coding Nonsynonymous PGDX39T SVIP small VCP/p97-interacting protein CCDS41627.1 chr11_22805333-22805333A_C 72L>R Substitution 10% coding Nonsynonymous PGDX39T SYNGAP1 synaptic Ras GTPase activating protein 1 homolog (rat) CCDS34434.1 chr6_33519009-33519009C_T 886A>V Substitution 19% coding Nonsynonymous PGDX39T TDRD6 tudor domain containing 6 CCDS34470.1 chr6_46764908-46764908T_G 362L>V Substitution 10% coding Nonsynonymous PGDX39T TDRD6 tudor domain containing 6 CCDS34470.1 chr6_46765121-46765121C_T 433R>C Substitution 12% coding Nonsynonymous PGDX39T THSD7B thrombospondin; type I; domain containing 7B ENST00000272643 chr2_137356292-137356292C_T 25S>F Substitution 15% coding Nonsynonymous PGDX39T TMEM132D transmembrane protein 132D CCDS9266.1 chr12_128750852-128750852G_A 142R>W Substitution 14% coding Nonsynonymous PGDX39T TMEM217 transmembrane protein 217 CCDS4831.1 chr6_37294523-37294523C_A 88A>S Substitution 23% coding Nonsynonymous PGDX39T TMEM8B transmembrane protein 8B CCDS43800.1 chr9_35843637-35843637T_G 407F>V Substitution 12% coding Nonsynonymous PGDX39T TNC tenascin C CCDS6811.1 chr9_116848769-116848769T_G 1622E>D Substitution 11% coding Nonsynonymous PGDX39T TNC tenascin C CCDS6811.1 chr9_116875735-116875735T_C 1061K>R Substitution 12% coding Nonsynonymous PGDX39T TNFAIP6 tumor necrosis factor; alpha-induced protein 6 CCDS2193.1 chr2_151934858-151934858A_C 158N>T Substitution 10% coding Nonsynonymous PGDX39T TP53 tumor protein p53 CCDS11118.1 chr17_7517845-7517845C_T 273R>H Substitution 31% coding Nonsynonymous PGDX39T TRMT61B tRNA methyltransferase 61 homolog B (S. cerevisiae) CCDS1768.1 chr2_28927621-28927621A_G 378L>P Substitution 11% coding Nonsynonymous PGDX39T TSC2 tuberous sclerosis 2 CCDS10458.1 chr16_2078595-2078595T_C 1803F>L Substitution 10% coding Nonsynonymous PGDX39T TTN titin ENST00000375038 chr2_179120180-179120180T_G 27421I>L Substitution 13% coding Nonsynonymous PGDX39T UNC13C Homo sapiens unc-13 homolog C NM_001080534 chr15_52093152-52093152A_G 254S>G Substitution 14% coding Nonsynonymous PGDX39T VPS13B vacuolar protein sorting 13 homolog B (yeast) CCDS6280.1 chr8_100251546-100251546T_G 771L>R Substitution 10% coding Nonsynonymous PGDX39T WDFY4 Homo sapiens WDFY family member 4 NM_020945 chr10_49607496-49607496A_C 329T>P Substitution 11% coding Nonsynonymous PGDX39T XIRP2 xin actin-binding repeat containing 2 CCDS42769.1 chr2_167808520-167808520T_C 791V>A Substitution 13% coding Nonsynonymous PGDX39T ZFHX2 zinc finger homeobox 2 ENST00000258869 chr14_23065769-23065769G_C 19N>K Substitution 16% coding PGDX39T ZNF462 zinc finger protein 462 CCDS35096.1 chr9_108741033-108741033A_T 2084K>M Substitution Nonsynonymous 11% coding Nonsynonymous PGDX39T ZNF567 zinc finger protein 567 CCDS12495.1 chr19_41903131-41903131T_A 524H>Q Substitution 10% coding Nonsynonymous PGDX39T ZNF571 zinc finger protein 571 CCDS12505.1 chr19_42748661-42748661T_C 170K>R Substitution 17% coding Nonsynonymous PGDX39T ZNF580 zinc finger protein 580 CCDS12931.1 chr19_60846073-60846073C_G 129F>L Substitution 17% coding Nonsynonymous PGDX3T ANPEP alanyl (membrane) aminopeptidase CCDS10356.1 chr15_88148488_88148488_C_G 393Q>H Substitution 20% coding Nonsynonymous PGDX3T ARHGAP39 Rho GTPase activating protein 39 CCDS34971.1 chr8_145741560_145741560_A_T 801L>Q Substitution 39% coding Nonsynonymous PGDX3T AVPR1A arginine vasopressin receptor 1A CCDS8965.1 chr12_61829995_61829995_C_A 297V>L Substitution 18% coding Nonsynonymous PGDX3T BCAM basal cell adhesion molecule (Lutheran blood group) CCDS12644.1 chr19_50007627_50007627_G_T 162M>I Substitution 20% coding Nonsynonymous PGDX3T BPNT1 3'(2'); 5'-bisphosphate nucleotidase 1 CCDS41469.1 chr1_218298914_218298914_C_A 274K>N Substitution 28% coding Nonsynonymous PGDX3T C14orf101 chromosome 14 open reading frame 101 CCDS9727.2 chr14_56140309_56140309_G_T 123G>V Substitution 22% coding Nonsynonymous PGDX3T CD1B CD1b molecule CCDS1176.1 chr1_156565786_156565786_C_A 295W>L Substitution 29% coding Nonsynonymous PGDX3T CLCN6 chloride channel 6 CCDS138.1 chr1_11816991_11816991_G_T 546E>D Substitution 23% coding Nonsynonymous PGDX3T DLK1 delta-like 1 homolog (Drosophila) CCDS9963.1 chr14_100270938_100270938_G_T 368K>N Substitution 22% coding Nonsynonymous PGDX3T DNTT deoxynucleotidyltransferase; terminal CCDS7447.1 chr10_98082294_98082294_G_T 437C>F Substitution 23% coding Nonsynonymous PGDX3T F8 coagulation factor VIII; procoagulant component CCDS35457.1 chrX_153810905_153810905_G_A 1452H>Y Substitution 56% coding Nonsynonymous PGDX3T FMO2 flavin containing monooxygenase 2 (non-functional) CCDS1293.1 chr1_169441289_169441289_G_T 359A>S Substitution 16% coding Nonsynonymous PGDX3T GUCY1A3 guanylate cyclase 1; soluble; alpha 3 CCDS34085.1 chr4_156837539_156837539_C_A 24Q>K Substitution 29% coding Nonsynonymous PGDX3T HERC2 hect domain and RLD 2 CCDS10021.1 chr15_26095824_26095824_C_G 3100R>P Substitution 32% coding Nonsynonymous PGDX3T IGSF8 immunoglobulin superfamily; member 8 CCDS1195.1 chr1_158330265_158330265_T_C 255M>V Substitution 35% coding Nonsynonymous PGDX3T JAK3 Janus kinase 3 CCDS12366.1 chr19_17811432_17811432_C_A 432R>L Substitution 18% coding Nonsynonymous PGDX3T KCNG1 potassium voltage-gated channel; subfamily G; member 1 CCDS13436.1 chr20_49054047_49054047_C_T 493S>N Substitution 30% coding Nonsynonymous PGDX3T KCNQ2 potassium voltage-gated channel; KQT-like subfamily; member 2 CCDS13520.1 chr20_61509010_61509010_C_A 684G>C Substitution 30% coding PGDX3T LRP12 low density lipoprotein receptor-related protein 12 CCDS6303.1 chr8_105670223_105670223_C_A 27G>X Substitution Nonsense 42% Nonsynonymous PGDX3T LZTS2 leucine zipper; putative tumor suppressor 2 CCDS7507.1 chr10_102753378_102753378_G_T 178S>I Substitution 39% coding Nonsynonymous PGDX3T MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 CCDS41948.1 chr14_46574182_46574182_C_A 236C>F Substitution 23% coding PGDX3T MED14 mediator complex subunit 14 CCDS14254.1 chrX_40436901_40436901_T_C NA Substitution Splice Site 56% Nonsynonymous PGDX3T NULL NULL CCDS12675.1 chr19_51000111_51000111_C_T 298E>K Substitution 19% coding Nonsynonymous PGDX3T OR2T4 olfactory receptor; family 2; subfamily T; member 4 CCDS31113.1 chr1_246592142_246592142_G_T 213V>F Substitution 12% coding Nonsynonymous PGDX3T OR6C74 olfactory receptor; family 6; subfamily C; member 74 CCDS31816.1 chr12_53928031_53928031_G_T 231Q>H Substitution 29% coding Nonsynonymous PGDX3T OSR1 odd-skipped related 1 (Drosophila) CCDS1694.1 chr2_19415592_19415592_C_A 242Q>H Substitution 14% coding Nonsynonymous PGDX3T PEAR1 platelet endothelial aggregation receptor 1 CCDS30892.1 chr1_155142757_155142757_G_T 125G>C Substitution 19% coding Nonsynonymous PGDX3T PSG6 pregnancy specific beta-1-glycoprotein 6 CCDS12613.1 chr19_48112162_48112162_C_G 128D>H Substitution 21% coding Nonsynonymous PGDX3T RNF130 ring finger protein 130 CCDS4451.1 chr5_179326445_179326445_G_A 373P>S Substitution 20% coding Nonsynonymous PGDX3T SVIL supervillin CCDS7164.1 chr10_29880195_29880195_C_A 55R>L Substitution 29% coding Nonsynonymous PGDX3T TAS2R4 taste receptor; type 2; member 4 CCDS5868.1 chr7_141125604_141125604_A_T 283T>S Substitution 22% coding PGDX3T TNPO1 transportin 1 CCDS43329.1 chr5_72225107_72225107_C_T 682Q>X Substitution Nonsense 39% transient receptor potential cation channel; subfamily M; member PGDX3T TRPM2 CCDS13710.1 chr21_44658348_44658348__A NA Insertion Frameshift 14% 2 transient receptor potential cation channel; subfamily M; member Nonsynonymous PGDX3T TRPM3 CCDS43835.1 chr9_72429989_72429989_G_T 571R>S Substitution 29% 3 coding Nonsynonymous PGDX3T UBR4 ubiquitin protein ligase E3 component n-recognin 4 CCDS189.1 chr1_19314629_19314629_G_C 3638S>C Substitution 31% coding Nonsynonymous PGDX3T UNC5C unc-5 homolog C (C. elegans) CCDS3643.1 chr4_96688974_96688974_G_T 20L>M Substitution 19% coding Nonsynonymous PGDX3T USP31 ubiquitin specific peptidase 31 CCDS10607.1 chr16_22998776_22998776_T_A 723H>L Substitution 21% coding X-ray repair complementing defective repair in Chinese hamster Nonsynonymous PGDX3T XRCC5 CCDS2402.1 chr2_216777338_216777338_G_A 720E>K Substitution 25% cells 5 (double-strand-break rejoining) coding Nonsynonymous PGDX48T ABCC11 ATP-binding cassette; sub-family C (CFTR/MRP); member 11 CCDS10732.1 chr16_46789564_46789564_C_T 736E>K Substitution 39% coding Nonsynonymous PGDX48T ABCC8 ATP-binding cassette; sub-family C (CFTR/MRP); member 8 CCDS31437.1 chr11_17406516_17406516_C_G 646V>L Substitution 16% coding Nonsynonymous PGDX48T AC104389.28 uncharacterized protein CCDS31378.1 chr11_5320742_5320742_G_A 197P>S Substitution 15% coding Nonsynonymous PGDX48T ACRV1 acrosomal vesicle protein 1 CCDS8460.1 chr11_125047790_125047790_C_G 236E>Q Substitution 28% coding Nonsynonymous PGDX48T ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif; 10 CCDS12206.1 chr19_8576559_8576559_C_T 13A>T Substitution 58% coding Nonsynonymous PGDX48T ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif; 15 CCDS8488.1 chr11_129848307_129848307_C_T 745A>V Substitution 26% coding Nonsynonymous PGDX48T ADRA2A adrenergic; alpha-2A-; receptor CCDS7569.1 chr10_112828987_112828987_G_A 400G>R Substitution 41% coding Nonsynonymous PGDX48T ANKRD30A ankyrin repeat domain 30A CCDS7193.1 chr10_37471005_37471005_C_T 336P>S Substitution 29% coding Nonsynonymous PGDX48T ANKRD33 ankyrin repeat domain 33 CCDS8815.1 chr12_50571137_50571137_G_T 380L>F Substitution 33% coding Nonsynonymous PGDX48T ASB13 ankyrin repeat and SOCS box-containing 13 CCDS7070.1 chr10_5733206_5733206_G_A 120P>S Substitution 55% coding Nonsynonymous PGDX48T ASCL4 achaete-scute complex homolog 4 (Drosophila) CCDS31894.1 chr12_106693537_106693537_G_A 138A>T Substitution 90% coding PGDX48T BACH2 BTB and CNC homology 1; basic leucine zipper transcription factor CCDS5026.1 chr6_90699053_90699053_G_A 774A>V Substitution Nonsynonymous 100% 2 coding

PGDX48T BMP5 bone morphogenetic protein 5 CCDS4958.1 chr6_55746872_55746872_G_A 321R>X Substitution Nonsense 35% Nonsynonymous PGDX48T BRD3 bromodomain containing 3 CCDS6980.1 chr9_135900297_135900297_G_A 385S>L Substitution 77% coding Nonsynonymous PGDX48T BSN bassoon (presynaptic cytomatrix protein) CCDS2800.1 chr3_49666128_49666128_G_T 1379G>W Substitution 33% coding Nonsynonymous PGDX48T C10orf12 chromosome 10 open reading frame 12 CCDS7452.1 chr10_98734739_98734739_C_T 1201T>M Substitution 44% coding Nonsynonymous PGDX48T C11orf2 chromosome 11 open reading frame 2 CCDS8093.1 chr11_64632459_64632459_G_A 314G>S Substitution 23% coding Nonsynonymous PGDX48T C11orf87 chromosome 11 open reading frame 87 CCDS31672.1 chr11_108799678_108799678_G_A 37G>S Substitution 29% coding PGDX48T C14orf104 chromosome 14 open reading frame 104 NM_018139 chr14_4917048_4917048__A NA Insertion Frameshift 109% Nonsynonymous PGDX48T CADM1 cell adhesion molecule 1 CCDS8373.1 chr11_114616239_114616239_G_C 79P>R Substitution 63% coding Nonsynonymous PGDX48T CARD11 caspase recruitment domain family; member 11 CCDS5336.2 chr7_2946085_2946085_C_T 230D>N Substitution 44% coding Nonsynonymous PGDX48T CCDC108 coiled-coil domain containing 108 CCDS2430.2 chr2_219611472_219611472_C_A 76V>L Substitution 33% coding Nonsynonymous PGDX48T CCDC87 coiled-coil domain containing 87 CCDS8145.1 chr11_66114815_66114815_G_A 750R>C Substitution 37% coding Nonsynonymous PGDX48T CDH18 cadherin 18; type 2 CCDS3889.1 chr5_19782943_19782943_C_G 130A>P Substitution 35% coding Nonsynonymous PGDX48T CHL1 cell adhesion molecule with homology to L1CAM CCDS2556.1 chr3_361338_361338_C_T 265S>L Substitution 61% coding Nonsynonymous PGDX48T CLEC14A C-type lectin domain family 14; member A CCDS9667.1 chr14_37794618_37794618_C_T 121G>S Substitution 100% coding Nonsynonymous PGDX48T CNTN6 contactin 6 CCDS2557.1 chr3_1344247_1344247_C_A 397A>E Substitution 32% coding Nonsynonymous PGDX48T COL6A6 collagen, type VI, alpha 6 NM_001102608 chr3_131783148_131783148_C_A 1201Q>K Substitution 63% coding Nonsynonymous PGDX48T COMMD3 COMM domain containing 3 CCDS7137.1 chr10_22646923_22646923_A_G 82T>A Substitution 45% coding Nonsynonymous PGDX48T CPA6 carboxypeptidase A6 CCDS6200.1 chr8_68497387_68497387_A_G 407F>S Substitution 25% coding PGDX48T CTR9 Ctr9; Paf1/RNA polymerase II complex component; homolog CCDS7805.1 chr11_10756851_10756851_C_T 1049R>X Substitution Nonsense 22% Nonsynonymous PGDX48T CYP8B1 cytochrome P450; family 8; subfamily B; polypeptide 1 CCDS2707.1 chr3_42891811_42891811_T_C 168S>G Substitution 31% coding Nonsynonymous PGDX48T DCBLD2 discoidin; CUB and LCCL domain containing 2 NM_080927 chr3_100001017_100001017_C_A 739K>N Substitution 63% coding Nonsynonymous PGDX48T DCLK1 doublecortin-like kinase 1 CCDS9354.1 chr13_35598222_35598222_G_A 18A>V Substitution 39% coding Nonsynonymous PGDX48T DGKG diacylglycerol kinase; gamma 90kDa CCDS3274.1 chr3_187468224_187468224_C_T 385G>S Substitution 29% coding Nonsynonymous PGDX48T DKK3 dickkopf homolog 3 (Xenopus laevis) CCDS7808.1 chr11_11946585_11946585_C_T 154G>E Substitution 11% coding Nonsynonymous PGDX48T DNAH14 dynein, axonemal, heavy chain 14 NM_001373 chr1_223461476_223461476_G_A 2102V>I Substitution 25% coding Nonsynonymous PGDX48T DNAH9 dynein; axonemal; heavy chain 9 CCDS11160.1 chr17_11454538_11454538_C_T 239P>S Substitution 100% coding Nonsynonymous PGDX48T DOCK4 dedicator of cytokinesis 4 NM_014705 chr7_111155735_111155735_C_T 1911R>Q Substitution 26% coding Nonsynonymous PGDX48T DST dystonin NM_001144769 chr6_56566485_56566485_T_C 2102T>A Substitution 62% coding Nonsynonymous PGDX48T EVC2 Ellis van Creveld syndrome 2 CCDS3382.2 chr4_5715822_5715822_C_G 353G>A Substitution 45% coding Nonsynonymous PGDX48T FAM205A family with sequence similarity 205, member A NM_001141917 chr9_34715432_34715432_C_T 602R>H Substitution 19% coding Nonsynonymous PGDX48T FAM73B family with sequence similarity 73; member B CCDS6917.1 chr9_130851992_130851992_G_A 202D>N Substitution 72% coding Nonsynonymous PGDX48T FANCD2 Fanconi anemia; complementation group D2 CCDS2595.1 chr3_10113148_10113148_G_T 1393D>Y Substitution 59% coding Nonsynonymous PGDX48T FOXA3 forkhead box A3 CCDS12677.1 chr19_51067990_51067990_C_T 296A>V Substitution 27% coding Nonsynonymous PGDX48T GAB4 GRB2-associated binding protein family; member 4 CCDS42976.1 chr22_15849006_15849006_G_T 177A>D Substitution 35% coding Nonsynonymous PGDX48T GFRA1 GDNF family receptor alpha 1 CCDS7593.1 chr10_117874923_117874923_C_T 185R>H Substitution 42% coding golgi-associated; gamma adaptin ear containing; ARF binding Nonsynonymous PGDX48T GGA1 CCDS13951.1 chr22_36349374_36349374_A_G 235H>R Substitution 29% protein 1 coding Nonsynonymous PGDX48T IDI2 isopentenyl-diphosphate delta isomerase 2 CCDS7055.1 chr10_1055457_1055457_T_G 228X>C Substitution 16% coding Nonsynonymous PGDX48T IMPG2 interphotoreceptor matrix proteoglycan 2 CCDS2940.1 chr3_102445187_102445187_G_A 893T>I Substitution 26% coding Nonsynonymous PGDX48T IPO13 importin 13 CCDS503.1 chr1_44194919_44194919_A_G 355T>A Substitution 25% coding Nonsynonymous PGDX48T IRS1 insulin receptor substrate 1 CCDS2463.1 chr2_227369312_227369312_C_T 796G>D Substitution 32% coding PGDX48T KIAA0406 KIAA0406 CCDS13300.1 chr20_36061108_36061108_G_A 897Q>X Substitution Nonsense 41% Nonsynonymous PGDX48T KIAA0467 KIAA0467 ENST00000406439 chr1_43660393_43660393_C_A 560A>D Substitution 50% coding PGDX48T KLF5 Kruppel-like factor 5 (intestinal) CCDS9448.1 chr13_72534704_72534704_A_ NA Deletion Frameshift 49% Nonsynonymous PGDX48T KRT76 keratin 76 CCDS8838.1 chr12_51456792_51456792_C_T 184R>Q Substitution 61% coding Nonsynonymous PGDX48T KRTDAP keratinocyte differentiation-associated protein CCDS12462.1 chr19_40670190_40670190_C_T 94A>T Substitution 69% coding Nonsynonymous PGDX48T LRRC52 leucine rich repeat containing 52 CCDS30930.1 chr1_163780747_163780747_T_A 197I>N Substitution 56% coding Nonsynonymous PGDX48T MEP1B meprin A, beta NM_005925 chr18_28047488_28047488_G_A 516R>Q Substitution 98% coding Nonsynonymous PGDX48T METTL2A methyltransferase like 2A NM_181725 chr17_57875971_57875971_C_T 284P>L Substitution 95% coding Nonsynonymous PGDX48T MINPP1 multiple inositol-polyphosphate phosphatase 1 CCDS7384.1 chr10_89262928_89262928_G_T 301W>C Substitution 51% coding Nonsynonymous PGDX48T MMD2 monocyte to macrophage differentiation-associated 2 NM_001100600 chr7_4913642_4913642_A_G 242F>L Substitution 48% coding Nonsynonymous PGDX48T MMP16 matrix metallopeptidase 16 (membrane-inserted) CCDS6246.1 chr8_89123040_89123040_A_G 530M>T Substitution 25% coding Nonsynonymous PGDX48T MOBKL2C MOB1; Mps One Binder kinase activator-like 2C (yeast) CCDS539.1 chr1_46851447_46851447_C_T 97R>H Substitution 50% coding Nonsynonymous PGDX48T MTR 5-methyltetrahydrofolate-homocysteine methyltransferase CCDS1614.1 chr1_235065525_235065525_T_C 415V>A Substitution 20% coding Nonsynonymous PGDX48T MUT methylmalonyl CoA mutase CCDS4924.1 chr6_49529309_49529309_G_C 344S>C Substitution 62% coding Nonsynonymous PGDX48T MYH9 myosin; heavy chain 9; non-muscle CCDS13927.1 chr22_35020926_35020926_G_A 1210R>W Substitution 58% coding PGDX48T MYO16 myosin XVI CCDS32008.1 chr13_108505410_108505410_G_ NA Deletion Frameshift 28% Nonsynonymous PGDX48T MYO18B myosin XVIIIB NM_032608 chr22_24752746_24752746_C_T 2269T>M Substitution 29% coding Nonsynonymous PGDX48T MYO3A myosin IIIA CCDS7148.1 chr10_26482834_26482834_G_T 895R>S Substitution 22% coding PGDX48T NACA nascent polypeptide-associated complex alpha subunit NM_001113203 chr12_55396751_55396751_G_ NA Deletion Frameshift 56% Nonsynonymous PGDX48T NAT10 N-acetyltransferase 10 (GCN5-related) CCDS7889.1 chr11_34118615_34118615_A_G 838I>V Substitution 45% coding PGDX48T NCAPD3 non-SMC condensin II complex; subunit D3 CCDS31723.1 chr11_133560007_133560007_C_A NA Substitution Splice site 64% Nonsynonymous PGDX48T NEB nebulin NM_001164507 chr2_152105196_152105196_T_A 6934I>F Substitution 21% coding Nonsynonymous PGDX48T NELL2 NEL-like 2 (chicken) CCDS8746.1 chr12_43459726_43459726_T_G 198H>P Substitution 28% coding Nonsynonymous PGDX48T NISCH nischarin CCDS33767.1 chr3_52487517_52487517_C_T 396R>W Substitution 36% coding Nonsynonymous PGDX48T NR2F1 nuclear receptor subfamily 2; group F; member 1 CCDS4068.1 chr5_92955164_92955164_C_T 378R>C Substitution 29% coding Nonsynonymous PGDX48T NRAS neuroblastoma RAS viral (v-ras) oncogene homolog CCDS877.1 chr1_115058053_115058053_G_T 61Q>K Substitution 47% coding Nonsynonymous PGDX48T NUP205 nucleoporin 205kDa CCDS34759.1 chr7_134938162_134938162_A_G 861N>S Substitution 65% coding Nonsynonymous PGDX48T OBSCN obscurin; cytoskeletal calmodulin and titin-interacting RhoGEF ENST00000359599 chr1_226527775_226527775_C_T 1964R>W Substitution 25% coding Nonsynonymous PGDX48T OR10A5 olfactory receptor; family 10; subfamily A; member 5 CCDS7773.1 chr11_6824093_6824093_G_A 202V>I Substitution 80% coding Nonsynonymous PGDX48T OR2H1 olfactory receptor, family 2, subfamily H, member 1 CCDS4660.1 chr6_29538252_29538252_C_A 243L>I Substitution 32% coding Nonsynonymous PGDX48T OR6C3 olfactory receptor; family 6; subfamily C; member 3 CCDS31819.1 chr12_54012005_54012005_G_A 85R>K Substitution 33% coding PGDX48T P2RX7 purinergic receptor P2X; ligand-gated ion channel; 7 CCDS9213.1 chr12_120088335_120088335_C_T 236R>X Substitution Nonsense 33% Nonsynonymous PGDX48T PARVG parvin; gamma CCDS14057.1 chr22_42916464_42916464_G_A 129E>K Substitution 76% coding Nonsynonymous PGDX48T PCDHA12 protocadherin alpha 12 NM_018903 chr5_140236223_140236223_C_T 328P>S Substitution 99% coding Nonsynonymous PGDX48T PCGCP Plasma glutamate carboxypeptidase CCDS6273.1 chr8_97866320_97866320_G_A 7A>T Substitution 26% coding Nonsynonymous PGDX48T PGM2L1 phosphoglucomutase 2-like 1 CCDS8231.1 chr11_73734248_73734248_C_T 378D>N Substitution 68% coding Nonsynonymous PGDX48T PIEZO1 piezo-type mechanosensitive ion channel component 1 NM_001142864 chr16_87330157_87330157_A_T 486M>K Substitution 63% coding PGDX48T PLA1A phospholipase A1 member A CCDS2991.1 chr3_120799454_120799454__C NA Insertion Frameshift 48% PGDX48T PLCG1 phospholipase C; gamma 1 CCDS13313.1 chr20_39236355_39236355_C_T 1275R>X Substitution Nonsense 25% PGDX48T PLIN5 perilipin 5 CCDS42473.1 chr19_4474785_4474785_C_ NA Deletion Frameshift 35% Nonsynonymous PGDX48T PRF1 perforin 1 (pore forming protein) CCDS7305.1 chr10_72030501_72030501_C_T 55R>H Substitution 50% coding Nonsynonymous PGDX48T PRRC2A proline-rich coiled-coil 2A CCDS4708.1 chr6_31707179_31707179_G_A 917R>H Substitution 67% coding Nonsynonymous PGDX48T PSKH2 protein serine kinase H2 CCDS6240.1 chr8_87145851_87145851_G_A 104A>V Substitution 20% coding PGDX48T PSME4 proteasome (prosome; macropain) activator subunit 4 CCDS33197.1 chr2_53973528_53973528_G_C 1257S>X Substitution Nonsense 28% Nonsynonymous PGDX48T PTCHD2 patched domain containing 2 CCDS41247.1 chr1_11483775_11483775_C_T 47R>W Substitution 98% coding Nonsynonymous PGDX48T PTDSS1 phosphatidylserine synthase 1 CCDS6271.1 chr8_97390999_97390999_G_A 349R>H Substitution 70% coding Nonsynonymous PGDX48T PTPRM protein tyrosine phosphatase; receptor type; M CCDS11840.1 chr18_7896545_7896545_G_A 171A>T Substitution 43% coding RP11- Nonsynonymous PGDX48T uncharacterized protein ENST00000382488 chr4_8562970_8562970_G_A 198R>H Substitution 97% 689P11.2 coding Nonsynonymous PGDX48T RPRD1A regulation of nuclear pre-mRNA domain containing 1A ENST00000319040 chr18_31859628_31859628_C_T 267M>I Substitution 14% coding Nonsynonymous PGDX48T SDAD1 SDA1 domain containing 1 CCDS3573.2 chr4_77107490_77107490_G_A 337P>S Substitution 93% coding sema domain, immunoglobulin domaiN, transmembrane domain Nonsynonymous PGDX48T SEMA4B NM_020210 chr15_88570031_88570031_C_A 552H>Q Substitution 30% and short cytoplasmic domain, 4B coding Nonsynonymous PGDX48T SLC1A6 solute carrier family 1; member 6 CCDS12321.1 chr19_14934100_14934100_C_T 217G>R Substitution 63% coding Nonsynonymous PGDX48T SLC32A1 solute carrier family 32 (GABA vesicular transporter); member 1 CCDS13307.1 chr20_36790470_36790470_C_T 451P>L Substitution 42% coding Nonsynonymous PGDX48T SLC8A3 solute carrier family 8 (sodium/calcium exchanger); member 3 CCDS35498.1 chr14_69704723_69704723_C_G 57G>A Substitution 87% coding Nonsynonymous PGDX48T SLFNL1 schlafen-like 1 CCDS460.1 chr1_41255516_41255516_C_T 360A>T Substitution 39% coding Nonsynonymous PGDX48T SMARCA4 SWI/SNF related; subfamily a; member 4 CCDS12253.1 chr19_11002493_11002493_G_A 1157R>Q Substitution 34% coding Nonsynonymous PGDX48T SPHKAP SPHK1 interactor; AKAP domain containing CCDS33389.1 chr2_228590717_228590717_C_A 1033D>Y Substitution 56% coding PGDX48T SPTBN1 spectrin; beta; non-erythrocytic 1 CCDS33198.1 chr2_54730541_54730541_G_T 1830E>X Substitution Nonsense 45% PGDX48T STS steroid sulfatase (microsomal); isozyme S CCDS14127.1 chrX_7185555_7185555_C_A 108S>X Substitution Nonsense 94% Nonsynonymous PGDX48T SYNPR synaptoporin NM_001130003 chr3_63517278_63517278_G_C 77E>Q Substitution 65% coding Nonsynonymous PGDX48T SYT7 synaptotagmin VII CCDS31577.1 chr11_61047218_61047218_C_T 338A>T Substitution 30% coding Nonsynonymous PGDX48T THOC1 THO complex 1 NM_005131 chr18_242570_242570_C_T 216E>K Substitution 96% coding Nonsynonymous PGDX48T TMEM128 transmembrane protein 128 CCDS3373.1 chr4_4290490_4290490_C_T 134V>I Substitution 10% coding PGDX48T TNRC6B trinucleotide repeat containing 6B NM_001162501 chr22_38999399_38999399_G_A 997W>X Substitution Nonsense 64% Nonsynonymous PGDX48T TP53 tumor protein p53 CCDS11118.1 chr17_7519120_7519120_G_A 179H>Y Substitution 98% coding Nonsynonymous PGDX48T TRIM17 tripartite motif-containing 17 CCDS1571.1 chr1_226665462_226665462_C_A 188E>D Substitution 12% coding Nonsynonymous PGDX48T TRIM3 tripartite motif-containing 3 CCDS7764.1 chr11_6434444_6434444_C_T 363R>H Substitution 15% coding Nonsynonymous PGDX48T TTN titin ENST00000375038 chr2_179127918_179127918_C_T 25486R>H Substitution 28% coding PGDX48T ULK1 unc-51-like kinase 1 (C. elegans) CCDS9274.1 chr12_130959472_130959472_G_A NA Substitution Splice site 29% Nonsynonymous PGDX48T UNC80 unc-80 homolog NM_032504 chr2_210398931_210398931_T_C 796I>T Substitution 37% coding PGDX48T ZBTB7B zinc finger and BTB domain containing 7B CCDS1081.1 chr1_153254232_153254232_C_T 158R>X Substitution Nonsense 51% Nonsynonymous PGDX48T ZFP14 zinc finger protein 14 homolog (mouse) CCDS33002.1 chr19_41523816_41523816_G_A 251T>M Substitution 36% coding Nonsynonymous PGDX48T ZFYVE26 zinc finger; FYVE domain containing 26 CCDS9788.1 chr14_67288957_67288957_C_T 2410A>T Substitution 44% coding Nonsynonymous PGDX48T ZNF174 zinc finger protein 174 CCDS10504.1 chr16_3398367_3398367_A_T 224E>V Substitution 43% coding Nonsynonymous PGDX48T ZNF74 zinc finger protein 74 CCDS42982.1 chr22_19090788_19090788_G_A 489V>M Substitution 28% coding Nonsynonymous PGDX4T CREB3L3 cAMP responsive element binding protein 3-like 3 CCDS12121.1 chr19_4108043_4108043_T_G 70S>A Substitution 22% coding Nonsynonymous PGDX4T IQSEC1 IQ motif and Sec7 domain 1 CCDS33703.1 chr3_12952203_12952203_T_C 452N>S Substitution 21% coding Nonsynonymous PGDX4T ITPR2 inositol 1;4;5-triphosphate receptor; type 2 CCDS41764.1 chr12_26699910_26699910_C_G 863E>Q Substitution 33% coding Nonsynonymous PGDX4T MYO5B myosin VB CCDS42436.1 chr18_45617915_45617915_A_G 1703V>A Substitution 11% coding Nonsynonymous PGDX4T OR1Q1 olfactory receptor; family 1; subfamily Q; member 1 CCDS35125.1 chr9_124417751_124417751_T_G 305M>R Substitution 23% coding PGDX60T C13orf23 chromosome 13 open reading frame 23 CCDS9368.2 chr13_38506336_38506336__A NA Insertion Splice site 17% Nonsynonymous PGDX60T LRRC32 leucine rich repeat containing 32 CCDS8245.1 chr11_76049011_76049011_C_T 425C>Y Substitution 17% coding PGDX60T MIR567 microRNA 567 MI0003573 chr3_113314414_113314414_A_ NA Deletion Frameshift 19% PGDX60T MLL3 myeloid/lymphoid or mixed-lineage leukemia 3 CCDS5931.1 chr7_151576189_151576189_G_A 755Q>X Substitution Nonsense 11% Nonsynonymous PGDX60T NOTCH2 Notch homolog 2 CCDS908.1 chr1_120341439_120341439_G_A 152P>L Substitution 10% coding Nonsynonymous PGDX60T OR2T34 olfactory receptor; family 2; subfamily T; member 34 CCDS31120.1 chr1_246804287_246804287_C_T 132C>Y Substitution 15% coding PGDX60T PTPN22 protein tyrosine phosphatase; non-receptor type 22 (lymphoid) CCDS863.1 chr1_114173856_114173856_A_ NA Deletion Splice site 12% Nonsynonymous PGDX60T RPSA ribosomal protein SA CCDS2686.1 chr3_39428793_39428793_C_T 273T>M Substitution 10% coding Nonsynonymous PGDX60T ZAR1L zygote arrest 1-like NM_001136571 chr13_31783654_31783654_T_C 137T>A Substitution 44% coding Nonsynonymous PGDX61T COL5A3 collagen; type V; alpha 3 CCDS12222.1 chr199945636C>T____ 1173A>T Substitution 21% coding Nonsynonymous PGDX61T DARC Duffy blood group; chemokine receptor CCDS1183.1 chr1157442094T>C____ 81F>L Substitution 22% coding guanine nucleotide binding protein (G protein); alpha 11 (Gq Nonsynonymous PGDX61T GNA11 CCDS12103.1 chr193069942A>T____ 209Q>L Substitution 31% class) coding Nonsynonymous PGDX61T IFRD2 interferon-related developmental regulator 2 NM_006764 chr350301276G>A____ 392R>C Substitution 19% coding Nonsynonymous PGDX61T TAOK3 TAO kinase 3 CCDS9188.1 chr12117084104G>A____ 671R>C Substitution 24% coding PGDX68T ABCA10 ATP-binding cassette; sub-family A (ABC1); member 10 CCDS11684.1 chr17_64661969_64661969_A_T NA Substitution Splice site 33% PGDX68T ABCD4 ATP-binding cassette; sub-family D (ALD); member 4 CCDS9828.1 chr14_73828742_73828742_C_T NA Substitution Splice site 55% PGDX68T APC adenomatous polyposis coli CCDS4107.1 chr5_112203479_112203479_C_ NA Deletion Frameshift 36% Nonsynonymous PGDX68T ARAP3 ArfGAP with RhoGAP domain; ankyrin repeat and PH domain 3 CCDS4266.1 chr5_141039342_141039342_C_T 218D>N Substitution 44% coding Nonsynonymous PGDX68T ARL5B ADP-ribosylation factor-like 5B CCDS7131.1 chr10_18997538_18997538_C_A 61H>N Substitution 22% coding PGDX68T ASH1L ash1 (absent; small; or homeotic)-like (Drosophila) CCDS1113.2 chr1_153574624_153574624_T_ NA Deletion Frameshift 33% PGDX68T ASH1L ash1 (absent; small; or homeotic)-like (Drosophila) CCDS1113.2 chr1_153574624_153574624__T NA Insertion Frameshift 22% B double prime 1; subunit of RNA polymerase III transcription Nonsynonymous PGDX68T BDP1 CCDS43328.1 chr5_70873234_70873234_G_C 2074E>Q Substitution 17% initiation factor IIIB coding Nonsynonymous PGDX68T BOC Boc homolog (mouse) CCDS2971.1 chr3_114474704_114474704_G_A 354V>M Substitution 40% coding PGDX68T CASP5 caspase 5, apoptosis-related cysteine peptidas NM_001136112 chr11_104384897_104384897__T NA Insertion Frameshift 56% PGDX68T CD3EAP CD3e molecule; epsilon associated protein CCDS12661.1 chr19_50603699_50603701_GAA_ NA Deletion In-frame deletion 31% PGDX68T CHEK1 CHK1 checkpoint homolog (S. pombe) CCDS8459.1 chr11_125010588_125010588__A NA Insertion Frameshift 29% Nonsynonymous PGDX68T CPS1 carbamoyl-phosphate synthase 1; mitochondrial CCDS2393.1 chr2_211233476_211233476_C_A 1260A>D Substitution 40% coding Nonsynonymous PGDX68T CRISP2 cysteine-rich secretory protein 2 CCDS4928.1 chr6_49771541_49771541_C_T 191G>S Substitution 67% coding Nonsynonymous PGDX68T CXorf22 chromosome X open reading frame 22 CCDS14237.2 chrX_35879906_35879906_G_C 317K>N Substitution 38% coding PGDX68T DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 CCDS11323.1 chr17_33062832_33062832__A NA Insertion Splice site 27% PGDX68T DICER1 dicer 1; ribonuclease type III CCDS9931.1 chr14_94652789_94652789_A_ NA Deletion Splice site 26% PGDX68T DPYS dihydropyrimidinase CCDS6302.1 chr8_105509390_105509390_T_ NA Deletion Frameshift 15% PGDX68T EBPL emopamil binding protein-like CCDS9420.1 chr13_49133237_49133237__CAGC NA Insertion Frameshift 33% eukaryotic translation initiation factor 2B; subunit 3 gamma; Nonsynonymous PGDX68T EIF2B3 CCDS517.1 chr1_45216633_45216633_G_T 79P>T Substitution 17% 58kDa coding Nonsynonymous PGDX68T FAM115C family with sequence similarity 115; member C CCDS34769.1 chr7_143047884_143047884_C_T 267R>W Substitution 40% coding Nonsynonymous PGDX68T FMN1 formin 1 NM_001103184 chr15_31005678_31005678_T_G 849D>A Substitution 33% coding PGDX68T FRYL FRY-like ENST00000302806 chr4_48331192_48331192_T_ NA Deletion Frameshift 31% PGDX68T GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 CCDS4663.1 chr6_29681415_29681417_CAG_ NA Deletion In-frame deletion 30% PGDX68T GOT1L1 glutamic-oxaloacetic transaminase 1-like 1 ENST00000307599 chr8_37910992_37910992_T_ NA Deletion Frameshift 31% PGDX68T KATNAL1 katanin p60 subunit A-like 1 CCDS31956.1 chr13_29752364_29752364__A NA Insertion Splice site 12% PGDX68T KRT9 keratin 9 CCDS32654.1 chr17_36980002_36980002_A_ NA Deletion Splice site 24% PGDX68T KRT9 keratin 9 CCDS32654.1 chr17_36980002_36980002__A NA Insertion Splice site 19% Nonsynonymous PGDX68T LHX9 LIM homeobox 9 CCDS1393.1 chr1_196163367_196163367_C_A 253H>N Substitution 19% coding Nonsynonymous PGDX68T LMOD2 leiomodin 2 (cardiac) NM_207163 chr7_123089718_123089718_C_T 281T>M Substitution 43% coding Nonsynonymous PGDX68T LONRF3 LON peptidase N-terminal domain and ring finger 3 CCDS35374.1 chrX_118024124_118024124_G_C 476E>D Substitution 27% coding PGDX68T LRRC31 leucine rich repeat containing 31 CCDS43167.1 chr3_171062182_171062182_C_A 97G>X Substitution Nonsense 29% PGDX68T LRRK2 leucine-rich repeat kinase 2 CCDS31774.1 chr12_39044940_39044940_C_G 2404S>X Substitution Nonsense 56% Nonsynonymous PGDX68T MLL3 myeloid/lymphoid or mixed-lineage leukemia 3 CCDS5931.1 chr7_151576224_151576224_G_A 743P>L Substitution 13% coding PGDX68T MLN motilin CCDS4786.1 chr6_33874976_33874976_C_A 40E>X Substitution Nonsense 53% Nonsynonymous PGDX68T MRPL21 mitochondrial ribosomal protein L21 CCDS8186.1 chr11_68420584_68420584_C_T 124C>Y Substitution 44% coding PGDX68T MYBL1 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 NM_001080416 chr8_67651007_67651007__T NA Insertion Frameshift 26% PGDX68T MYO6 myosin VI CCDS34487.1 chr6_76656578_76656578__A NA Insertion Frameshift 29% PGDX68T OR52R1 olfactory receptor; family 52; subfamily R; member 1 ENST00000396940 chr11_4783849_4783849__A NA Insertion UTR 29% PGDX68T OR7C2 olfactory receptor; family 7; subfamily C; member 2 ENST00000380000 chr19_14913265_14913265__T NA Insertion Frameshift 20% Nonsynonymous PGDX68T PAX7 paired box 7 CCDS186.1 chr1_18934908_18934908_G_A 451G>S Substitution 50% coding Nonsynonymous PGDX68T PCDHA protocadherin alpha CCDS4242.1 chr5_140369509_140369509_G_A 943D>N Substitution 42% coding Nonsynonymous PGDX68T PCDHA11 protocadherin alpha 11 NM_018902 chr5_140231082_140231082_C_T 737T>M Substitution 44% coding PGDX68T PEX1 peroxisomal biogenesis factor 1 CCDS5627.1 chr7_91984657_91984657_T_ NA Deletion Frameshift 24% Nonsynonymous PGDX68T PI4K2A phosphatidylinositol 4-kinase type 2 alpha CCDS7467.1 chr10_99348527_99348527_G_A 73V>M Substitution 50% coding PGDX68T PPT1 palmitoyl-protein thioesterase 1 ENST00000372775 chr1_40317080_40317080_T_ NA Deletion Frameshift 18% PGDX68T RFWD2 ring finger and WD repeat domain 2 CCDS30944.1 chr1_174420391_174420391_C_T NA Substitution Splice site 46% Nonsynonymous PGDX68T RPL10 ribosomal protein L10 CCDS14746.1 chrX_153281451_153281451_A_T 102M>L Substitution 82% coding SWI/SNF related; matrix associated; actin dependent regulator of Nonsynonymous PGDX68T SMARCAL1 CCDS2403.1 chr2_217055730_217055730_G_T 884D>Y Substitution 36% chromatin; subfamily a-like 1 coding PGDX68T SOS1 son of sevenless homolog 1 (Drosophila) CCDS1802.1 chr2_39066747_39066747_T_ NA Deletion Frameshift 12% PGDX68T SPEN spen homolog; transcriptional regulator (Drosophila) CCDS164.1 chr1_16127729_16127730_GA_ NA Deletion Frameshift 28% PGDX68T SPEN spen homolog; transcriptional regulator (Drosophila) ENST00000375753 chr1_16073317_16073317__T NA Insertion Frameshift 44% PGDX68T SYBU syntabulin (syntaxin-interacting) ENST00000399066 chr8_110733799_110733799_T_ NA Deletion UTR 31% Nonsynonymous PGDX68T TAGAP T-cell activation RhoGTPase activating protein CCDS5261.1 chr6_159379155_159379155_G_T 293L>M Substitution 18% coding PGDX68T TBC1D2B TBC1 domain family; member 2B CCDS32301.1 chr15_76097357_76097357_G_T NA Substitution Splice site 40% Nonsynonymous PGDX68T TCERG1 transcription elongation regulator 1 CCDS4282.1 chr5_145842416_145842416_G_A 652R>Q Substitution 62% coding Nonsynonymous PGDX68T THSD7B thrombospondin; type I; domain containing 7B ENST00000272643 chr2_137716543_137716543_C_A 733P>T Substitution 24% coding Nonsynonymous PGDX68T TMC5 transmembrane channel-like 5 CCDS42126.1 chr16_19359274_19359274_C_T 138A>V Substitution 25% coding Nonsynonymous PGDX68T TP53 tumor protein p53 CCDS11118.1 chr17_7517819_7517819_G_A 282R>W Substitution 89% coding PGDX68T TPCN1 two pore segment channel 1 CCDS31908.1 chr12_112188479_112188481_CTG_ NA Deletion In-frame deletion 31% Nonsynonymous PGDX68T TRERF1 transcriptional regulating factor 1 CCDS4867.1 chr6_42330618_42330618_G_A 869R>W Substitution 58% coding Nonsynonymous PGDX68T TTN titin ENST00000375038 chr2_179105894_179105894_A_G 30546M>T Substitution 20% coding Nonsynonymous PGDX68T TTN titin NM_133379 chr2_179355963_179355963_G_A 972P>L Substitution 57% coding Nonsynonymous PGDX68T TTN titin NM_133379 chr2_179372499_179372499_G_T 292P>T Substitution 82% coding PGDX68T UBR5 ubiquitin protein ligase E3 component n-recognin 5 CCDS34933.1 chr8_103357027_103357027__A NA Insertion Splice site 21% Nonsynonymous PGDX68T VN1R5 vomeronasal 1 receptor 5 NM_173858 chr1_245486616_245486616_C_T 207A>V Substitution 25% coding Nonsynonymous PGDX68T ZMYM2 zinc finger, MYM-type 2 NM_003453 chr13_19530745_19530745_A_G 842N>D Substitution 11% coding PGDX68T ZNF263 zinc finger protein 263 CCDS10499.1 chr16_3274209_3274210_GA_ NA Deletion Splice site 17% Nonsynonymous PGDX68T ZNF578 zinc finger protein 578 NM_001099694 chr19_57706390_57706390_A_G 315Y>C Substitution 38% coding Nonsynonymous PGDX68T ZNF828 zinc finger protein 828 CCDS9545.1 chr13_114109056_114109056_G_A 546R>H Substitution 24% coding Nonsynonymous PGDX68T ZNFX1 zinc finger; NFX1-type containing 1 CCDS13417.1 chr20_47297793_47297793_T_G 1725L>F Substitution 12% coding Nonsynonymous PGDX76T AADAC arylacetamide deacetylase (esterase) CCDS33877.1 chr3_153014648_153014648_G_A 3R>K Substitution 29% coding Nonsynonymous PGDX76T ABCA12 ATP-binding cassette; sub-family A (ABC1); member 12 CCDS33372.1 chr2_215592353_215592353_C_T 537E>K Substitution 24% coding Nonsynonymous PGDX76T ABCA4 ATP-binding cassette; sub-family A (ABC1); member 4 CCDS747.1 chr1_94287039_94287039_C_T 906D>N Substitution 27% coding Nonsynonymous PGDX76T ABCA7 ATP-binding cassette; sub-family A (ABC1); member 7 CCDS12055.1 chr19_1012829_1012829_C_T 1838R>C Substitution 51% coding Nonsynonymous PGDX76T ABCB1 ATP-binding cassette; sub-family B (MDR/TAP); member 1 CCDS5608.1 chr7_86982667_86982667_C_T 1033G>E Substitution 16% coding Nonsynonymous PGDX76T ABCB11 bile salt export pump NM_003742 chr2_169558637_169558637_C_T 205D>N Substitution 28% coding Nonsynonymous PGDX76T ABCC6 ATP-binding cassette; sub-family C (CFTR/MRP); member 6 CCDS10568.1 chr16_16159134_16159134_G_A 1257P>S Substitution 26% coding PGDX76T ABCF1 ATP-binding cassette sub-family F member 1 CCDS34380.1 chr6_30666460_30666460_T_C NA Substitution UTR 11% Nonsynonymous PGDX76T ABCG2 ATP-binding cassette; sub-family G (WHITE); member 2 CCDS3628.1 chr4_89271293_89271293_C_T 159E>K Substitution 27% coding PGDX76T ABI3BP target of Nesh-SH3 precursor NM_015429 chr3_102127835_102127835_C_A NA Substitution Splice site 22% Nonsynonymous PGDX76T AC004877.1 Uncharacterized protein ENST00000360022 chr7_149111197_149111197_G_A 51E>K Substitution 23% coding Nonsynonymous PGDX76T AC004889.1 Uncharacterized protein ENST00000378112 chr7_143613186_143613186_G_A 603R>W Substitution 40% coding PGDX76T AC005041.2 Uncharacterized protein ENST00000398351 chr2_74489542_74489542_G_A NA Substitution UTR 33% Nonsynonymous PGDX76T AC005582.1 Uncharacterized protein ENST00000357959 chr7_34575971_34575971_T_C 43S>G Substitution 39% coding Nonsynonymous PGDX76T AC005726.6 Uncharacterized serine/threonine-protein kinase CCDS11237.1 chr17_23963445_23963445_G_A 205S>F Substitution 25% coding Nonsynonymous PGDX76T AC007731.16 Uncharacterized protein ENST00000400460 chr22_19045927_19045927_C_T 240T>M Substitution 15% coding Nonsynonymous PGDX76T AC010872.2 Uncharacterized protein ENST00000405799 chr2_21218216_21218216_G_A 1458D>N Substitution 60% coding Nonsynonymous PGDX76T AC016251.9 Uncharacterized protein ENST00000378936 chr15_94632652_94632652_G_A 5H>Y Substitution 15% coding PGDX76T AC079770.7 Uncharacterized protein ENST00000391666 chr2_6029656_6029656_G_A 50G>E Substitution Nonsynonymous 60% coding Nonsynonymous PGDX76T AC087289.9 Uncharacterized protein ENST00000326348 chr17_71328997_71328997_C_T 185D>N Substitution 28% coding Nonsynonymous PGDX76T AC091742.5 Putative maltase-glucoamylase-like protein FLJ16351 ENST00000378229 chr7_141518965_141518965_G_A 92G>R Substitution 18% coding Nonsynonymous PGDX76T AC091742.5 Putative maltase-glucoamylase-like protein FLJ16351 ENST00000378229 chr7_141543992_141543992_G_A 548E>K Substitution 20% coding Nonsynonymous PGDX76T AC092070.2 Uncharacterized protein ENST00000338885 chr19_58479188_58479188_G_A 187D>N Substitution 70% coding Nonsynonymous PGDX76T AC092535.4 Uncharacterized protein ENST00000314552 chr4_1184606_1184606_C_T 147G>E Substitution 18% coding Nonsynonymous PGDX76T AC104316.3 DERL1 protein ENST00000405944 chr8_124095827_124095827_G_T 30Q>K Substitution 27% coding Nonsynonymous PGDX76T AC105345.3 Uncharacterized protein ENST00000382488 chr4_8563026_8563026_G_A 217A>T Substitution 41% coding Nonsynonymous PGDX76T AC110799.3 Uncharacterized protein ENST00000244249 chr4_43596063_43596063_G_A 110D>N Substitution 30% coding Nonsynonymous PGDX76T AC118470.2 Olfactory receptor (Fragment) ENST00000366485 chr1_245953689_245953689_C_T 94G>R Substitution 34% coding PGDX76T AC120036.5 Uncharacterized protein ENST00000399730 chr8_48233278_48233278_C_T NA Substitution UTR 26% Nonsynonymous PGDX76T AC144411.2 Uncharacterized protein ENST00000382619 chr7_788645_788645_G_C 128G>A Substitution 15% coding Nonsynonymous PGDX76T AC144411.2 Uncharacterized protein ENST00000382619 chr7_788485_788485_A_G 75T>A Substitution 10% coding PGDX76T ACAP1 ArfGAP with coiled-coil; ankyrin repeat and PH domains 1 CCDS11101.1 chr17_7191962_7191962_C_T NA Substitution Splice site 24% Nonsynonymous PGDX76T ACSM4 acyl-coenzyme A synthetase ACSM4, mitochondrial NM_001080454 chr12_7350535_7350535_G_A 114G>E Substitution 25% coding Nonsynonymous PGDX76T ACTRT2 actin-related protein T2 CCDS45.1 chr1_2928624_2928624_G_A 172G>S Substitution 26% coding Nonsynonymous PGDX76T ADAM18 ADAM metallopeptidase domain 18 CCDS6113.1 chr8_39656727_39656727_G_A 549G>E Substitution 23% coding Nonsynonymous PGDX76T ADAM19 ADAM metallopeptidase domain 19 (meltrin beta) CCDS4338.1 chr5_156841441_156841441_G_A 880S>F Substitution 21% coding Nonsynonymous PGDX76T ADAM2 ADAM metallopeptidase domain 2 CCDS34884.1 chr8_39746096_39746096_C_T 395G>E Substitution 28% coding PGDX76T ADAMDEC1 ADAM-like; decysin 1 CCDS6044.1 chr8_24311140_24311140_G_A NA Substitution Splice site 22% Nonsynonymous PGDX76T ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif; 1 ENST00000382884 chr21_27137932_27137932_C_T 6G>R Substitution 24% coding Nonsynonymous PGDX76T ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif; 2 CCDS4444.1 chr5_178703604_178703604_C_T 102E>K Substitution 29% coding A disintegrin and metalloproteinase with thrombospondin motifs Nonsynonymous PGDX76T ADAMTS20 NM_025003 chr12_42056662_42056662_C_T 1686G>D Substitution 23% 20 preproprotein coding Nonsynonymous PGDX76T ADCY2 adenylate cyclase 2 (brain) CCDS3872.2 chr5_7766003_7766003_G_A 538R>H Substitution 11% coding Nonsynonymous PGDX76T ADCYAP1R1 adenylate cyclase activating polypeptide 1 receptor type I CCDS5433.1 chr7_31112654_31112654_G_A 413R>Q Substitution 35% coding Nonsynonymous PGDX76T ADH1A alcohol dehydrogenase 1A (class I) CCDS3648.1 chr4_100427161_100427161_G_A 43A>V Substitution 27% coding Nonsynonymous PGDX76T ADH7 alcohol dehydrogenase 7 (class IV); mu or sigma polypeptide CCDS34034.1 chr4_100568075_100568075_C_T 160E>K Substitution 27% coding PGDX76T AFAP1L2 actin filament associated protein 1-like 2 ENST00000392974 chr10_116090566_116090566_C_T NA Substitution Splice site 31% Nonsynonymous PGDX76T AGBL5 ATP/GTP binding protein-like 5 CCDS1732.3 chr2_27130293_27130293_C_T 138S>F Substitution 65% coding Nonsynonymous PGDX76T AGTR1 angiotensin II receptor; type 1 CCDS3137.1 chr3_149942372_149942373_CC_AT 287T>I Substitution 21% coding Nonsynonymous PGDX76T AIFM3 apoptosis-inducing factor; mitochondrion-associated; 3 CCDS13786.1 chr22_19658361_19658361_C_T 122S>F Substitution 26% coding Nonsynonymous PGDX76T AKNA AT-hook transcription factor CCDS6805.1 chr9_116139339_116139339_G_A 1379P>L Substitution 31% coding Nonsynonymous PGDX76T AKR1D1 aldo-keto reductase family 1; member D1 CCDS5846.1 chr7_137451934_137451934_C_T 323H>Y Substitution 19% coding Nonsynonymous PGDX76T AL122001.32 NOL1/NOP2/Sun domain family member 4 ENST00000401058 chr1_46581297_46581297_C_T 399P>S Substitution 24% coding Nonsynonymous PGDX76T AL139275.30 Uncharacterized protein ENST00000373171 chr6_40421776_40421776_G_A 127L>F Substitution 15% coding PGDX76T AL365190.16 Uncharacterized protein ENST00000399270 chr9_83465090_83465090_C_A NA Substitution Splice site 12% PGDX76T AL365190.16 Uncharacterized protein ENST00000399270 chr9_83465077_83465077__A NA Insertion Frameshift 17% PGDX76T AL590624.8 Uncharacterized protein ENST00000319701 chr1_179473414_179473414_G_A NA Substitution UTR 34% Nonsynonymous PGDX76T AL662849.8 complement component 4B preproprotein NM_007293 chr6_32072192_32072192_C_T 1171S>F Substitution 17% coding Nonsynonymous PGDX76T ALOX5 arachidonate 5-lipoxygenase CCDS7212.1 chr10_45255923_45255923_C_A 341P>T Substitution 25% coding Nonsynonymous PGDX76T ALS2 amyotrophic lateral sclerosis 2 (juvenile) CCDS42800.1 chr2_202340331_202340331_G_A 14S>F Substitution 23% coding Nonsynonymous PGDX76T ANAPC1 anaphase promoting complex subunit 1 CCDS2093.1 chr2_112259430_112259430_G_T 1632A>D Substitution 23% coding Nonsynonymous PGDX76T ANGEL1 angel homolog 1 (Drosophila) CCDS9852.1 chr14_76345164_76345164_G_A 214P>S Substitution 24% coding Nonsynonymous PGDX76T ANK3 ankyrin 3; node of Ranvier (ankyrin G) CCDS7258.1 chr10_61504041_61504041_C_T 2202E>K Substitution 22% coding Nonsynonymous PGDX76T ANKRD31 ankyrin repeat domain-containing protein 31 NM_001164443 chr5_74478917_74478917_C_T 692G>D Substitution 31% coding Nonsynonymous PGDX76T ANKRD54 ankyrin repeat domain 54 CCDS13959.1 chr22_36558937_36558937_C_T 232E>K Substitution 25% coding Nonsynonymous PGDX76T ANO2 anoctamin-2 NM_020373 chr12_5900561_5900561_G_A 143P>L Substitution 32% coding Nonsynonymous PGDX76T ANXA10 annexin A10 CCDS34096.1 chr4_169322993_169322993_G_A 141E>K Substitution 22% coding Nonsynonymous PGDX76T AOAH acyloxyacyl hydrolase (neutrophil) CCDS5448.1 chr7_36627863_36627863_C_T 211E>K Substitution 36% coding PGDX76T AP4M1 adaptor-related protein complex 4; mu 1 subunit CCDS5685.1 chr7_99541101_99541101_G_T NA Substitution Splice site 17% Nonsynonymous PGDX76T APOB apolipoprotein B CCDS1703.1 chr2_21078694_21078694_C_T 4369E>K Substitution 29% coding Nonsynonymous PGDX76T APOL1 apolipoprotein L; 1 CCDS13925.1 chr22_34991146_34991146_T_G 122N>K Substitution 23% coding Nonsynonymous PGDX76T ARAP2 ArfGAP with RhoGAP domain; ankyrin repeat and PH domain 2 CCDS3441.1 chr4_35806580_35806580_C_T 1204E>K Substitution 25% coding Nonsynonymous PGDX76T ARHGAP26 Rho GTPase activating protein 26 ENST00000378013 chr5_142132532_142132532_G_A 1M>I Substitution 25% coding PGDX76T ARHGAP44 rho GTPase-activating protein 44 NM_014859 chr17_12793234_12793234_C_T 305A>V Substitution Nonsynonymous 29% coding Nonsynonymous PGDX76T ARHGAP44 rho GTPase-activating protein 44 NM_014859 chr17_12773023_12773023_G_A 173G>S Substitution 27% coding Nonsynonymous PGDX76T ARHGAP6 Rho GTPase activating protein 6 CCDS14140.1 chrX_11084646_11084646_C_T 611E>K Substitution 44% coding Nonsynonymous PGDX76T ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 CCDS34771.1 chr7_143693406_143693406_G_A 904R>K Substitution 13% coding Nonsynonymous PGDX76T ARL16 ADP-ribosylation factor-like protein 16 NM_001040025 chr17_77261237_77261238_GG_AA 8A>V Substitution 32% coding Nonsynonymous PGDX76T ARPP-21 cAMP-regulated phosphoprotein 21 CCDS2661.1 chr3_35738109_35738109_G_A 335R>K Substitution 32% coding Nonsynonymous PGDX76T ARSF arylsulfatase F CCDS14123.1 chrX_3031947_3031947_G_A 416G>E Substitution 42% coding Nonsynonymous PGDX76T ARVCF armadillo repeat gene deleted in velocardiofacial syndrome CCDS13771.1 chr22_18340730_18340730_G_A 784H>Y Substitution 23% coding Nonsynonymous PGDX76T ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 CCDS7239.1 chr10_51675199_51675199_G_A 31S>L Substitution 27% coding Nonsynonymous PGDX76T ASPM asp (abnormal spindle) homolog; microcephaly associated CCDS1389.1 chr1_195339777_195339777_G_A 1743L>F Substitution 12% coding Nonsynonymous PGDX76T ASPM asp (abnormal spindle) homolog; microcephaly associated CCDS1389.1 chr1_195339333_195339333_G_A 1891R>W Substitution 36% coding PGDX76T ATF6B activating transcription factor 6 beta CCDS4737.1 chr6_32192323_32192323_G_A NA Substitution Splice site 25% Nonsynonymous PGDX76T ATG9B ATG9 autophagy related 9 homolog B (S. cerevisiae) CCDS43680.1 chr7_150352170_150352170_G_A 92P>S Substitution 15% coding Nonsynonymous PGDX76T ATP12A ATPase; H+/K+ transporting; nongastric; alpha polypeptide CCDS31948.1 chr13_24163198_24163198_G_A 293G>E Substitution 29% coding Nonsynonymous PGDX76T ATP12A ATPase; H+/K+ transporting; nongastric; alpha polypeptide CCDS31948.1 chr13_24170952_24170952_T_G 557Y>D Substitution 32% coding PGDX76T ATP13A4 ATPase type 13A4 CCDS3304.2 chr3_194603132_194603132_C_T NA Substitution UTR 34% Nonsynonymous PGDX76T ATP1B4 ATPase; Na+/K+ transporting; beta 4 polypeptide CCDS14598.1 chrX_119384543_119384543_G_A 67E>K Substitution 53% coding Nonsynonymous PGDX76T ATP2B2 ATPase; Ca++ transporting; plasma membrane 2 CCDS33701.1 chr3_10375418_10375418_G_A 698T>I Substitution 24% coding Nonsynonymous PGDX76T ATP6AP1 ATPase; H+ transporting; lysosomal accessory protein 1 CCDS35451.1 chrX_153317016_153317016_C_T 392P>S Substitution 46% coding Nonsynonymous PGDX76T ATP6V1G3 ATPase; H+ transporting; lysosomal 13kDa; V1 subunit G3 CCDS1395.1 chr1_196776324_196776324_T_C 27K>R Substitution 35% coding ATPase; aminophospholipid transporter; class I; type 8A; member PGDX76T ATP8A1 CCDS3466.1 chr4_42203789_42203789_C_T NA Substitution Splice site 22% 1 Nonsynonymous PGDX76T ATRX alpha thalassemia/mental retardation syndrome X-linked CCDS14434.1 chrX_76650661_76650661_G_A 2435H>Y Substitution 52% coding Nonsynonymous PGDX76T ATXN3L ataxin 3-like NM_001135995 chrX_13247397_13247397_C_T 193G>E Substitution 57% coding Nonsynonymous PGDX76T AUTS2 autism susceptibility candidate 2 NM_001127232 chr7_69393335_69393335_G_A 236G>R Substitution 33% coding PGDX76T B2M beta-2-microglobulin CCDS10113.1 chr15_42795185_42795185_A_T 114K>X Substitution Nonsense 50% UDP-Gal:betaGlcNAc beta 1;4- galactosyltransferase; polypeptide Nonsynonymous PGDX76T B4GALT5 CCDS13420.1 chr20_47763574_47763574_A_C 21F>V Substitution 31% 5 coding Nonsynonymous PGDX76T BAT3 Large proline-rich protein BAT3 CCDS4709.1 chr6_31717129_31717129_T_C 834E>G Substitution 20% coding Nonsynonymous PGDX76T BCAR3 breast cancer anti-estrogen resistance 3 CCDS745.1 chr1_93820913_93820913_G_A 407P>S Substitution 29% coding Nonsynonymous PGDX76T BEST3 bestrophin 3 CCDS8992.2 chr12_68335400_68335400_C_T 521D>N Substitution 22% coding Nonsynonymous PGDX76T BHMT betaine--homocysteine S-methyltransferase CCDS4046.1 chr5_78459339_78459339_G_A 272E>K Substitution 26% coding Nonsynonymous PGDX76T BIN1 bridging integrator 1 CCDS2138.1 chr2_127524489_127524489_G_A 551P>L Substitution 21% coding Nonsynonymous PGDX76T BMPER BMP binding endothelial regulator CCDS5442.1 chr7_34085162_34085162_C_T 416S>L Substitution 38% coding Nonsynonymous PGDX76T BPIL2 bactericidal/permeability-increasing protein-like 2 CCDS13906.1 chr22_31140357_31140357_G_A 486P>L Substitution 28% coding Nonsynonymous PGDX76T BPIL2 bactericidal/permeability-increasing protein-like 2 CCDS13906.1 chr22_31183292_31183292_G_A 28P>S Substitution 30% coding Nonsynonymous PGDX76T BRCA1 breast cancer 1; early onset CCDS11453.1 chr17_38498121_38498121_G_A 985P>S Substitution 24% coding Nonsynonymous PGDX76T BRD4 bromodomain containing 4 CCDS12328.1 chr19_15214746_15214746_G_A 1045S>L Substitution 67% coding Nonsynonymous PGDX76T BRD8 bromodomain containing 8 CCDS4198.1 chr5_137528649_137528649_G_A 462P>S Substitution 31% coding Nonsynonymous PGDX76T BRPF3 bromodomain and PHD finger containing; 3 CCDS34437.1 chr6_36304721_36304721_C_T 1115P>L Substitution 16% coding Nonsynonymous PGDX76T BRWD3 bromodomain and WD repeat domain containing 3 CCDS14447.1 chrX_79864864_79864864_T_A 577T>S Substitution 35% coding PGDX76T BRWD3 bromodomain and WD repeat domain containing 3 CCDS14447.1 chrX_79864861_79864861_G_ NA Deletion Frameshift 33% Nonsynonymous PGDX76T BTBD7 BTB (POZ) domain containing 7 CCDS32146.1 chr14_92799963_92799963_G_A 431S>F Substitution 18% coding Nonsynonymous PGDX76T BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 CCDS11605.1 chr17_53740120_53740120_G_A 1612P>S Substitution 25% coding Nonsynonymous PGDX76T C10orf71 chromosome 10 open reading frame 71 NM_001135196 chr10_50200948_50200948_C_T 118P>S Substitution 24% coding PGDX76T C10orf79 chromosome 10 open reading frame 79 ENST00000369720 chr10_105943607_105943607_G_A NA Substitution UTR 27% Nonsynonymous PGDX76T C11orf35 chromosome 11 open reading frame 35 CCDS7701.1 chr11_547988_547988_C_T 151E>K Substitution 27% coding Nonsynonymous PGDX76T C11orf63 chromosome 11 open reading frame 63 CCDS8438.1 chr11_122280114_122280114_C_A 206R>S Substitution 43% coding PGDX76T C11orf66 chromosome 11 open reading frame 66 CCDS8008.1 chr11_61009383_61009383_C_T NA Substitution Splice site 22% Nonsynonymous PGDX76T C12orf50 chromosome 12 open reading frame 50 CCDS9031.1 chr12_86901064_86901064_C_T 389R>Q Substitution 15% coding Nonsynonymous PGDX76T C14orf135 chromosome 14 open reading frame 135 NM_022495 chr14_59661434_59661434_C_T 697S>L Substitution 26% coding PGDX76T C14orf153 chromosome 14 open reading frame 153 CCDS41996.1 chr14_103206365_103206365_C_T 327R>X Substitution Nonsense 33% Nonsynonymous PGDX76T C14orf38 hypothetical protein LOC729665 NM_001164399 chr14_59104768_59104768_C_T 147E>K Substitution 27% coding Nonsynonymous PGDX76T C14orf38 hypothetical protein LOC729665 NM_001164399 chr14_59104791_59104791_A_C 139I>S Substitution 23% coding Nonsynonymous PGDX76T C14orf48 chromosome 14 open reading frame 48 ENST00000359253 chr14_93537252_93537252_G_A 63G>R Substitution 27% coding Nonsynonymous PGDX76T C15orf2 chromosome 15 open reading frame 2 CCDS10015.1 chr15_22472468_22472468_C_T 121R>C Substitution 26% coding PGDX76T C16orf71 chromosome 16 open reading frame 71 CCDS10521.1 chr16_4730376_4730376_G_A 166W>X Substitution Nonsense 31% Nonsynonymous PGDX76T C17orf60 Probable mast cell antigen 32 homolog precursor NM_001085423 chr17_59879245_59879245_C_T 53S>F Substitution 33% coding Nonsynonymous PGDX76T C18orf20 chromosome 18 open reading frame 20 ENST00000397982 chr18_59916183_59916183_C_T 35E>K Substitution 28% coding core 1 synthase; glycoprotein-N-acetylgalactosamine 3-beta- Nonsynonymous PGDX76T C1GALT1 CCDS5355.1 chr7_7244993_7244993_C_T 268P>L Substitution 24% galactosyltransferase; 1 coding Nonsynonymous PGDX76T C1orf110 hypothetical protein LOC339512 NM_178550 chr1_161091718_161091718_G_A 124P>S Substitution 38% coding Nonsynonymous PGDX76T C1orf175 chromosome 1 open reading frame 175 CCDS41342.1 chr1_54912011_54912011_C_T 582A>V Substitution 26% coding Nonsynonymous PGDX76T C1orf175 chromosome 1 open reading frame 175 CCDS41342.1 chr1_54891648_54891648_A_G 154K>R Substitution 28% coding Nonsynonymous PGDX76T C1orf55 chromosome 1 open reading frame 55 CCDS41473.1 chr1_224246890_224246890_T_A 118M>L Substitution 13% coding Nonsynonymous PGDX76T C1RL complement component 1; r subcomponent-like CCDS8573.1 chr12_7145829_7145829_G_A 144S>F Substitution 29% coding Nonsynonymous PGDX76T C20orf132 chromosome 20 open reading frame 132 ENST00000400441 chr20_35181585_35181585_T_G 652Q>P Substitution 29% coding Nonsynonymous PGDX76T C4A complement component 4A (Rodgers blood group) NM_007293 chr6_32072192_32072192_C_T 1171S>F Substitution 17% coding Nonsynonymous PGDX76T C4A Complement C4-B precursor NM_007293 chr6_32072192_32072192_C_T 1171S>F Substitution 17% coding Nonsynonymous PGDX76T C4B complement component 4B preproprotein NM_007293 chr6_32072192_32072192_C_T 1171S>F Substitution 17% coding Nonsynonymous PGDX76T C4orf31 chromosome 4 open reading frame 31 CCDS3717.2 chr4_122180621_122180621_G_A 76S>L Substitution 29% coding Nonsynonymous PGDX76T C5orf40 chromosome 5 open reading frame 40 CCDS4337.1 chr5_156702969_156702969_C_T 52E>K Substitution 27% coding Nonsynonymous PGDX76T C5orf48 chromosome 5 open reading frame 48 CCDS4139.1 chr5_125999714_125999714_A_C 96K>T Substitution 25% coding Nonsynonymous PGDX76T C6orf118 chromosome 6 open reading frame 118 CCDS5288.1 chr6_165623454_165623454_C_T 405E>K Substitution 49% coding Nonsynonymous PGDX76T C7 complement component 7 NM_000587 chr5_41015757_41015757_G_A 780G>E Substitution 32% coding Nonsynonymous PGDX76T C7orf27 chromosome 7 open reading frame 27 CCDS5334.1 chr7_2544740_2544740_G_A 652A>V Substitution 58% coding Nonsynonymous PGDX76T C7orf31 chromosome 7 open reading frame 31 CCDS5394.1 chr7_25142135_25142135_G_A 585S>F Substitution 35% coding PGDX76T C7orf58 chromosome 7 open reading frame 58 CCDS34739.1 chr7_120722946_120722946_C_T NA Substitution UTR 36% Nonsynonymous PGDX76T C8orf34 chromosome 8 open reading frame 34 CCDS6203.1 chr8_69521127_69521127_G_A 51G>E Substitution 18% coding Nonsynonymous PGDX76T C9orf152 chromosome 9 open reading frame 152 CCDS35102.1 chr9_112003345_112003345_C_T 121G>S Substitution 20% coding Nonsynonymous PGDX76T C9orf3 chromosome 9 open reading frame 3 CCDS6713.1 chr9_96807685_96807685_G_A 595R>Q Substitution 24% coding Nonsynonymous PGDX76T C9orf43 chromosome 9 open reading frame 43 CCDS6796.1 chr9_115227138_115227138_C_T 276P>S Substitution 27% coding Nonsynonymous PGDX76T C9orf86 chromosome 9 open reading frame 86 NM_024718 chr9_138846013_138846013_C_T 160R>W Substitution 21% coding Nonsynonymous PGDX76T CABLES1 Cdk5 and Abl enzyme substrate 1 CCDS42417.1 chr18_19047997_19047997_C_T 357R>C Substitution 26% coding Nonsynonymous PGDX76T CABYR calcium binding tyrosine-(Y)-phosphorylation regulated CCDS42420.1 chr18_19993463_19993463_C_T 191P>S Substitution 28% coding voltage-dependent L-type calcium channel subunit alpha-1C Nonsynonymous PGDX76T CACNA1C NM_199460 chr12_2665209_2665209_G_A 1957E>K Substitution 12% isoform 1 coding voltage-dependent R-type calcium channel subunit alpha-1E Nonsynonymous PGDX76T CACNA1E NM_000721 chr1_179956075_179956075_G_A 621G>E Substitution 32% isoform 3 coding voltage-dependent R-type calcium channel subunit alpha-1E Nonsynonymous PGDX76T CACNA1E NM_000721 chr1_179956089_179956089_G_A 626G>R Substitution 32% isoform 3 coding voltage-dependent T-type calcium channel subunit alpha-1H Nonsynonymous PGDX76T CACNA1H NM_021098 chr16_1210576_1210576_A_G 2215T>A Substitution 31% isoform a coding Nonsynonymous PGDX76T CACNA1I calcium channel; voltage-dependent; T type; alpha 1I subunit NM_021096 chr22_38360530_38360530_G_A 199V>M Substitution 27% coding Nonsynonymous PGDX76T CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 NM_018398 chr3_54578889_54578889_G_A 235G>E Substitution 26% coding PGDX76T CALHM2 calcium homeostasis modulator 2 CCDS7549.1 chr10_105197037_105197037_C_T 278W>X Substitution Nonsense 29% Nonsynonymous PGDX76T CALHM3 calcium homeostasis modulator 3 NM_001129742 chr10_105228604_105228604_G_A 59P>L Substitution 38% coding Nonsynonymous PGDX76T CALML5 calmodulin-like 5 CCDS7068.1 chr10_5531235_5531235_A_G 56V>A Substitution 21% coding Nonsynonymous PGDX76T CAPN5 calpain 5 CCDS8248.1 chr11_76473588_76473588_C_T 3S>L Substitution 17% coding Nonsynonymous PGDX76T CAPSL calcyphosine-like CCDS3912.2 chr5_35956873_35956873_C_G 36R>T Substitution 27% coding Nonsynonymous PGDX76T CASC1 cancer susceptibility candidate 1 CCDS31759.2 chr12_25198620_25198620_G_A 113P>L Substitution 18% coding Nonsynonymous PGDX76T CASR calcium-sensing receptor CCDS3010.1 chr3_123463735_123463735_C_T 388S>L Substitution 22% coding Nonsynonymous PGDX76T CCDC102B coiled-coil domain containing 102B CCDS11996.2 chr18_64655014_64655014_G_A 12E>K Substitution 36% coding Nonsynonymous PGDX76T CCDC152 coiled-coil domain-containing protein 152 NM_001134848 chr5_42832738_42832738_G_A 161E>K Substitution 36% coding Nonsynonymous PGDX76T CCDC158 coiled-coil domain containing 158 CCDS43242.1 chr4_77497621_77497621_T_A 701L>F Substitution 13% coding Nonsynonymous PGDX76T CCDC24 coiled-coil domain containing 24 CCDS507.1 chr1_44234111_44234111_C_T 233H>Y Substitution 27% coding Nonsynonymous PGDX76T CCDC39 coiled-coil domain-containing protein 39 NM_181426 chr3_181816834_181816834_T_G 866E>D Substitution 27% coding Nonsynonymous PGDX76T CCDC59 coiled-coil domain containing 59 CCDS9023.1 chr12_81274931_81274931_A_T 135F>I Substitution 27% coding Nonsynonymous PGDX76T CCDC74B coiled-coil domain containing 74B CCDS2155.1 chr2_130616400_130616400_G_A 107S>F Substitution 22% coding Nonsynonymous PGDX76T CCDC88C protein Daple NM_001080414 chr14_90825217_90825217_C_T 1476G>R Substitution 32% coding Nonsynonymous PGDX76T CCT8L2 chaperonin containing TCP1; subunit 8 (theta)-like 2 CCDS13738.1 chr22_15452045_15452045_C_T 466E>K Substitution 23% coding Nonsynonymous PGDX76T CD163 CD163 molecule CCDS8578.1 chr12_7523853_7523853_G_A 1117S>F Substitution 37% coding Nonsynonymous PGDX76T CD163 CD163 molecule CCDS8578.1 chr12_7539033_7539033_C_T 444G>E Substitution 24% coding Nonsynonymous PGDX76T CD163L1 CD163 molecule-like 1 CCDS8577.1 chr12_7411153_7411153_G_A 1409H>Y Substitution 25% coding PGDX76T CD300LB CD300 molecule-like family member b CCDS11700.1 chr17_70030530_70030530_C_T 220G>E Substitution Nonsynonymous 29% coding Nonsynonymous PGDX76T CDC27 cell division cycle 27 homolog (S. cerevisiae) CCDS11509.1 chr17_42602310_42602310_T_G 117T>P Substitution 16% coding Nonsynonymous PGDX76T CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) CCDS31601.1 chr11_64359427_64359427_C_T 641E>K Substitution 26% coding Nonsynonymous PGDX76T CDC5L CDC5 cell division cycle 5-like (S. pombe) CCDS4912.1 chr6_44502404_44502404_C_T 620P>S Substitution 35% coding Nonsynonymous PGDX76T CDH12 cadherin 12; type 2 (N-cadherin 2) CCDS3890.1 chr5_21787847_21787847_C_T 714R>K Substitution 27% coding Nonsynonymous PGDX76T CDH18 cadherin 18; type 2 CCDS3889.1 chr5_19509222_19509222_C_T 748G>E Substitution 23% coding Nonsynonymous PGDX76T CDH5 cadherin 5; type 2 (vascular endothelium) CCDS10804.1 chr16_64994358_64994358_G_A 714D>N Substitution 58% coding Nonsynonymous PGDX76T CDH6 cadherin 6; type 2; K-cadherin (fetal kidney) CCDS3894.1 chr5_31358865_31358865_G_A 689R>Q Substitution 28% coding Nonsynonymous PGDX76T CDH8 cadherin 8; type 2 CCDS10802.1 chr16_60245310_60245310_T_G 701K>N Substitution 23% coding Nonsynonymous PGDX76T CELA2A chymotrypsin-like elastase family; member 2A CCDS157.1 chr1_15666573_15666573_C_T 249P>S Substitution 25% coding Nonsynonymous PGDX76T CENPI centromere protein I CCDS14479.1 chrX_100262394_100262394_C_T 218R>C Substitution 40% coding Nonsynonymous PGDX76T CENPJ centromere protein J CCDS9310.1 chr13_24378789_24378789_T_A 463S>C Substitution 12% coding Nonsynonymous PGDX76T CEP170 centrosomal protein 170kDa NM_014812 chr1_241359350_241359350_A_G 1450W>R Substitution 38% coding Nonsynonymous PGDX76T CEP350 centrosomal protein 350kDa NM_014810 chr1_178249697_178249697_C_T 496R>W Substitution 36% coding Nonsynonymous PGDX76T CES3 carboxylesterase 3 CCDS10826.1 chr16_65555014_65555014_C_T 136P>L Substitution 49% coding Nonsynonymous PGDX76T CES8 carboxylesterase 8 (putative) CCDS42174.1 chr16_65587139_65587139_T_C 56F>L Substitution 59% coding Nonsynonymous PGDX76T CFHR4 complement factor H-related 4 CCDS41451.1 chr1_195154017_195154017_G_A 285G>E Substitution 53% coding Nonsynonymous PGDX76T CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ENST00000395422 chr7_56141677_56141677_G_A 3S>F Substitution 45% coding Nonsynonymous PGDX76T CHD1L chromodomain helicase DNA binding protein 1-like CCDS927.1 chr1_145202834_145202834_C_T 236R>C Substitution 13% coding Nonsynonymous PGDX76T CHIC1 cysteine-rich hydrophobic domain 1 NM_001039840 chrX_72699909_72699909_G_A 22E>K Substitution 52% coding Nonsynonymous PGDX76T CHRNB3 cholinergic receptor; nicotinic; beta 3 CCDS6134.1 chr8_42706250_42706250_G_A 215D>N Substitution 27% coding PGDX76T CHRND cholinergic receptor; nicotinic; delta CCDS2494.1 chr2_233107246_233107247_GG_TA 441G>X Substitution Nonsense 18% Nonsynonymous PGDX76T CLCN1 chloride channel 1; skeletal muscle CCDS5881.1 chr7_142738506_142738506_G_A 347E>K Substitution 36% coding Nonsynonymous PGDX76T CLCN2 chloride channel 2 CCDS3263.1 chr3_185554149_185554149_G_A 617S>F Substitution 24% coding Nonsynonymous PGDX76T CLEC17A C-type lectin domain family 17, member A isoform 2 NM_207390 chr19_14571616_14571616_G_A 228G>D Substitution 58% coding Nonsynonymous PGDX76T CLEC2A C-type lectin domain family 2 member A NM_001130711 chr12_9960669_9960669_C_T 103E>K Substitution 26% coding Nonsynonymous PGDX76T CLEC3A C-type lectin domain family 3; member A CCDS10927.1 chr16_76622219_76622219_G_A 192E>K Substitution 62% coding Nonsynonymous PGDX76T CLIC2 chloride intracellular channel 2 CCDS14767.1 chrX_154161745_154161745_C_T 157E>K Substitution 44% coding Nonsynonymous PGDX76T CLNK cytokine-dependent hematopoietic cell linker NM_052964 chr4_10175491_10175491_A_G 101Y>H Substitution 31% coding Nonsynonymous PGDX76T CMYA5 cardiomyopathy-associated protein 5 NM_153610 chr5_79069540_79069540_G_A 3066D>N Substitution 19% coding Nonsynonymous PGDX76T CNTNAP5 contactin-associated protein-like 5 precursor NM_130773 chr2_125221377_125221377_G_C 726E>Q Substitution 23% coding Nonsynonymous PGDX76T CNTNAP5 contactin-associated protein-like 5 precursor NM_130773 chr2_125343776_125343776_G_A 1134V>I Substitution 24% coding Nonsynonymous PGDX76T COL11A2 Collagen alpha-2(XI) chain precursor CCDS43452.1 chr6_33249303_33249303_G_A 793P>L Substitution 18% coding Nonsynonymous PGDX76T COL14A1 collagen; type XIV; alpha 1 CCDS34938.1 chr8_121308172_121308172_G_A 664G>R Substitution 23% coding Nonsynonymous PGDX76T COL16A1 collagen; type XVI; alpha 1 CCDS41297.1 chr1_31931311_31931311_G_A 347P>L Substitution 30% coding Nonsynonymous PGDX76T COL17A1 collagen; type XVII; alpha 1 CCDS7554.1 chr10_105826102_105826102_G_A 93S>F Substitution 32% coding PGDX76T COL21A1 collagen; type XXI; alpha 1 NM_030820 chr6_56098322_56098322_C_T NA Substitution Splice site 16% Nonsynonymous PGDX76T COL4A1 collagen; type IV; alpha 1 CCDS9511.1 chr13_109613817_109613817_G_A 1415P>S Substitution 24% coding PGDX76T COL4A3BP collagen; type IV; alpha 3 (Goodpasture antigen) binding protein CCDS4028.1 chr5_74731882_74731882_A_C NA Substitution Splice site 29% Nonsynonymous PGDX76T COL4A4 collagen; type IV; alpha 4 CCDS42828.1 chr2_227606415_227606415_C_T 1178G>S Substitution 20% coding Nonsynonymous PGDX76T COL4A4 collagen; type IV; alpha 4 CCDS42828.1 chr2_227672639_227672639_C_T 347G>E Substitution 29% coding Nonsynonymous PGDX76T COL5A2 collagen; type V; alpha 2 CCDS33350.1 chr2_189616126_189616126_G_A 1156P>L Substitution 30% coding PGDX76T COL6A5 collagen alpha-5(VI) chain NM_153264 chr3_131645009_131645009_G_A NA Substitution Splice site 30% Nonsynonymous PGDX76T COMMD3 COMM domain containing 3 CCDS7137.1 chr10_22647604_22647604_C_T 123P>S Substitution 27% coding Nonsynonymous PGDX76T COPG coatomer protein complex; subunit gamma CCDS33851.1 chr3_130470040_130470040_C_T 554S>F Substitution 24% coding Nonsynonymous PGDX76T CPO carboxypeptidase O CCDS2372.1 chr2_207542398_207542398_T_A 373L>H Substitution 25% coding Nonsynonymous PGDX76T CPSF2 cleavage and polyadenylation specific factor 2; 100kDa CCDS9902.1 chr14_91670395_91670395_G_A 120D>N Substitution 20% coding Nonsynonymous PGDX76T CPVL carboxypeptidase; vitellogenic-like CCDS5419.1 chr7_29127195_29127195_C_T 3G>D Substitution 20% coding Nonsynonymous PGDX76T CRB1 crumbs homolog 1 (Drosophila) CCDS1390.1 chr1_195674400_195674400_A_T 1284M>L Substitution 36% coding Nonsynonymous PGDX76T CRY2 cryptochrome-2 isoform 1 NM_021117 chr11_45825567_45825567_C_T 5H>Y Substitution 30% coding PGDX76T CRYBA4 crystallin; beta A4 CCDS13841.1 chr22_25356443_25356443_C_T 195Q>X Substitution Nonsense 21% Nonsynonymous PGDX76T CRYBB3 crystallin; beta B3 CCDS13830.1 chr22_23928653_23928653_G_A 30E>K Substitution 26% coding Nonsynonymous PGDX76T CSDE1 cold shock domain containing E1; RNA-binding CCDS30812.1 chr1_115070461_115070461_G_A 512R>C Substitution 31% coding Nonsynonymous PGDX76T CSMD1 CUB and sushi domain-containing protein 1 precursor NM_033225 chr8_3153355_3153355_C_T 1237R>Q Substitution 27% coding Nonsynonymous PGDX76T CSMD1 CUB and sushi domain-containing protein 1 precursor NM_033225 chr8_3153380_3153380_C_T 1229D>N Substitution 29% coding Nonsynonymous PGDX76T CSMD1 CUB and sushi domain-containing protein 1 precursor NM_033225 chr8_3034898_3034898_A_G 1781L>P Substitution 31% coding Nonsynonymous PGDX76T CSMD2 CUB and Sushi multiple domains 2 ENST00000373381 chr1_33797489_33797489_C_T 2851R>K Substitution 19% coding Nonsynonymous PGDX76T CSMD2 CUB and Sushi multiple domains 2 CCDS380.1 chr1_33901128_33901128_A_G 1362F>L Substitution 28% coding Nonsynonymous PGDX76T CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) CCDS2757.1 chr3_47589277_47589277_C_T 429A>T Substitution 24% coding Nonsynonymous PGDX76T CSRP2BP CSRP2 binding protein CCDS13133.1 chr20_18087784_18087784_C_T 186P>L Substitution 34% coding Nonsynonymous PGDX76T CTBP2 C-terminal binding protein 2 CCDS7643.1 chr10_126717594_126717594_T_C 7H>R Substitution 26% coding PGDX76T CTBP2 C-terminal binding protein 2 CCDS7643.1 chr10_126717592_126717592_T_A 8K>X Substitution Nonsense 26% Nonsynonymous PGDX76T CUX2 cut-like homeobox 2 CCDS41837.1 chr12_110242915_110242915_G_A 907E>K Substitution 26% coding Nonsynonymous PGDX76T CXorf21 chromosome X open reading frame 21 CCDS14224.1 chrX_30487520_30487520_G_A 292H>Y Substitution 48% coding Nonsynonymous PGDX76T CYFIP1 cytoplasmic FMR1 interacting protein 1 CCDS10009.1 chr15_20554410_20554410_G_A 1231G>R Substitution 26% coding Nonsynonymous PGDX76T CYLC1 cylicin; basic protein of sperm head cytoskeleton 1 CCDS35341.1 chrX_83015726_83015726_G_A 452G>R Substitution 52% coding PGDX76T CYP27C1 cytochrome P450; family 27; subfamily C; polypeptide 1 CCDS33285.1 chr2_127667862_127667862_A_ NA Deletion Frameshift 26% Nonsynonymous PGDX76T CYP4A22 cytochrome P450; family 4; subfamily A; polypeptide 22 CCDS30707.1 chr1_47380430_47380430_C_T 149A>V Substitution 21% coding Nonsynonymous PGDX76T CYP7B1 cytochrome P450; family 7; subfamily B; polypeptide 1 CCDS6180.1 chr8_65679863_65679863_C_T 388R>Q Substitution 28% coding Nonsynonymous PGDX76T CYTIP cytohesin 1 interacting protein CCDS2204.1 chr2_157980634_157980634_A_G 294L>P Substitution 25% coding Nonsynonymous PGDX76T DCBLD2 discoidin; CUB and LCCL domain containing 2 NM_080927 chr3_100023805_100023805_G_A 263P>S Substitution 31% coding Nonsynonymous PGDX76T DCC deleted in colorectal carcinoma CCDS11952.1 chr18_49085980_49085980_G_A 649G>E Substitution 23% coding PGDX76T DCC deleted in colorectal carcinoma CCDS11952.1 chr18_49102414_49102414_G_A NA Substitution Splice site 26% Nonsynonymous PGDX76T DCTN4 dynactin 4 (p62) CCDS4310.1 chr5_150070990_150070990_G_A 433R>C Substitution 26% coding Nonsynonymous PGDX76T DDI1 DNA-damage inducible 1 homolog 1 (S. cerevisiae) CCDS31660.1 chr11_103413262_103413262_G_A 168A>T Substitution 49% coding Nonsynonymous PGDX76T DES desmin CCDS33383.1 chr2_219991431_219991431_G_A 1M>I Substitution 26% coding Nonsynonymous PGDX76T DGCR8 DiGeorge syndrome critical region gene 8 CCDS13773.1 chr22_18457617_18457617_C_T 381P>L Substitution 24% coding Nonsynonymous PGDX76T DIO2 deiodinase; iodothyronine; type II ENST00000388841 chr14_79747456_79747456_A_G 38V>A Substitution 25% coding Nonsynonymous PGDX76T DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) CCDS7054.1 chr10_362983_362983_G_A 1296S>L Substitution 27% coding Nonsynonymous PGDX76T DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) CCDS7054.1 chr10_322285_322285_T_C 1349I>M Substitution 36% coding Nonsynonymous PGDX76T DISP1 dispatched homolog 1 (Drosophila) CCDS1536.1 chr1_221182972_221182972_G_A 62V>I Substitution 42% coding Nonsynonymous PGDX76T DISP2 dispatched homolog 2 (Drosophila) CCDS10056.1 chr15_38443299_38443299_G_A 101E>K Substitution 44% coding DKFZp761E19 Nonsynonymous PGDX76T hypothetical protein LOC91056 NM_138368 chr11_65302267_65302267_G_A 701P>L Substitution 29% 8 coding Nonsynonymous PGDX76T DLGAP1 discs; large (Drosophila) homolog-associated protein 1 CCDS11836.1 chr18_3719341_3719341_G_A 462S>F Substitution 26% coding Nonsynonymous PGDX76T DLGAP2 disks large-associated protein 2 NM_004745 chr8_1636903_1636904_CC_TT 951S>F Substitution 26% coding PGDX76T DMBT1 deleted in malignant brain tumors 1 protein isoform b precursor NM_007329 chr10_124382726_124382726_C_T 2014Q>X Substitution Nonsense 20% Nonsynonymous PGDX76T DMRTC1B DMRT-like family C1B CCDS35333.2 chrX_72009054_72009054_G_A 179S>L Substitution 39% coding Nonsynonymous PGDX76T DNAH1 dynein heavy chain 1, axonemal NM_015512 chr3_52332919_52332919_A_G 130D>G Substitution 25% coding Nonsynonymous PGDX76T DNAH11 dynein; axonemal; heavy chain 11 ENST00000328843 chr7_21597400_21597400_C_T 783P>S Substitution 42% coding Nonsynonymous PGDX76T DNAH17 dynein heavy chain 17, axonemal NM_173628 chr17_73958499_73958499_C_T 3587E>K Substitution 26% coding Nonsynonymous PGDX76T DNAH2 dynein; axonemal; heavy chain 2 CCDS32551.1 chr17_7638327_7638327_C_T 2534P>S Substitution 21% coding Nonsynonymous PGDX76T DNAH3 dynein; axonemal; heavy chain 3 CCDS10594.1 chr16_21046567_21046567_C_T 384E>K Substitution 27% coding Nonsynonymous PGDX76T DNAH3 dynein; axonemal; heavy chain 3 CCDS10594.1 chr16_20904283_20904283_C_T 2428G>S Substitution 33% coding Nonsynonymous PGDX76T DNAH6 dynein heavy chain 6, axonemal NM_001370 chr2_84700400_84700400_G_A 1218R>K Substitution 31% coding Nonsynonymous PGDX76T DNAH7 dynein; axonemal; heavy chain 7 CCDS42794.1 chr2_196437300_196437300_G_A 2442R>C Substitution 25% coding Nonsynonymous PGDX76T DNAH7 dynein; axonemal; heavy chain 7 CCDS42794.1 chr2_196379729_196379729_G_A 3386R>C Substitution 25% coding Nonsynonymous PGDX76T DNAH8 dynein; axonemal; heavy chain 8 CCDS4838.1 chr6_39058205_39058205_G_A 4097D>N Substitution 17% coding Nonsynonymous PGDX76T DNAH8 dynein; axonemal; heavy chain 8 CCDS4838.1 chr6_38943935_38943935_G_A 2054M>I Substitution 16% coding Nonsynonymous PGDX76T DNAH9 dynein; axonemal; heavy chain 9 CCDS11160.1 chr17_11591763_11591763_G_A 2189E>K Substitution 31% coding Nonsynonymous PGDX76T DNAH9 dynein; axonemal; heavy chain 9 CCDS11160.1 chr17_11513752_11513752_G_A 1090R>Q Substitution 28% coding Nonsynonymous PGDX76T DPH3 DPH3; KTI11 homolog (S. cerevisiae) CCDS2629.1 chr3_16280688_16280688_A_T 54I>N Substitution 22% coding Nonsynonymous PGDX76T DPH5 DPH5 homolog (S. cerevisiae) CCDS41358.1 chr1_101228624_101228624_C_T 262M>I Substitution 24% coding Nonsynonymous PGDX76T DSC1 desmocollin 1 CCDS11894.1 chr18_26979714_26979714_G_C 266A>G Substitution 22% coding Nonsynonymous PGDX76T DSCAM Down syndrome cell adhesion molecule CCDS42929.1 chr21_40482993_40482993_G_T 800T>K Substitution 29% coding Nonsynonymous PGDX76T DSCAM Down syndrome cell adhesion molecule CCDS42929.1 chr21_40662946_40662946_C_T 202R>Q Substitution 23% coding Nonsynonymous PGDX76T DSPP dentin sialophosphoprotein CCDS43248.1 chr4_88752750_88752750_A_T 130N>Y Substitution 21% coding Nonsynonymous PGDX76T DTX3L deltex 3-like (Drosophila) CCDS3015.1 chr3_123770861_123770861_A_C 412K>T Substitution 10% coding PGDX76T DUSP16 dual specificity phosphatase 16 CCDS8650.1 chr12_12531244_12531244_A_G 226S>P Substitution Nonsynonymous 12% coding Nonsynonymous PGDX76T DUSP22 dual specificity phosphatase 22 CCDS4468.1 chr6_256894_256894_G_A 24E>K Substitution 11% coding PGDX76T DYNC1LI2 dynein; cytoplasmic 1; light intermediate chain 2 CCDS10818.1 chr16_65315230_65315231_AA_ NA Deletion Splice site 12% Nonsynonymous PGDX76T EFCAB6 EF-hand calcium binding domain 6 CCDS14049.1 chr22_42353706_42353706_C_T 807E>K Substitution 31% coding Nonsynonymous PGDX76T EGFLAM EGF-like; fibronectin type III and laminin G domains CCDS3924.1 chr5_38442952_38442952_G_A 365G>E Substitution 25% coding Nonsynonymous PGDX76T EGLN2 egl nine homolog 2 (C. elegans) CCDS12567.1 chr19_45998408_45998408_C_T 31R>W Substitution 24% coding Nonsynonymous PGDX76T EIF3A eukaryotic translation initiation factor 3; subunit A CCDS7608.1 chr10_120791787_120791787_G_A 1079P>S Substitution 21% coding PGDX76T EIF4G3 eukaryotic translation initiation factor 4 gamma; 3 CCDS214.1 chr1_21078601_21078601_C_T NA Substitution Splice site 31% Nonsynonymous PGDX76T ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 CCDS41554.1 chr10_97595134_97595134_G_A 209E>K Substitution 24% coding Nonsynonymous PGDX76T EPB41L1 erythrocyte membrane protein band 4.1-like 1 CCDS13271.1 chr20_34261133_34261133_G_A 660D>N Substitution 31% coding Nonsynonymous PGDX76T EPHA1 EPH receptor A1 CCDS5884.1 chr7_142802031_142802031_C_T 782E>K Substitution 32% coding Nonsynonymous PGDX76T ERC2 ERC protein 2 NM_015576 chr3_56182517_56182517_C_T 382M>I Substitution 22% coding Nonsynonymous PGDX76T ERC2 ERC protein 2 NM_015576 chr3_56089952_56089952_C_T 525G>D Substitution 21% coding Nonsynonymous PGDX76T ERRFI1 ERBB receptor feedback inhibitor 1 CCDS94.1 chr1_7996642_7996642_G_A 202R>C Substitution 26% coding PGDX76T ESRRG estrogen-related receptor gamma CCDS41468.1 chr1_214759330_214759330_C_A 307E>X Substitution Nonsense 33% Nonsynonymous PGDX76T ESRRG estrogen-related receptor gamma CCDS41468.1 chr1_214759331_214759331_C_T 306M>I Substitution 33% coding Nonsynonymous PGDX76T ESRRG estrogen-related receptor gamma CCDS41468.1 chr1_214759155_214759156_TC_GT 365E>T Substitution 39% coding Nonsynonymous PGDX76T ETV1 ets variant 1 NM_004956 chr7_13906902_13906902_C_T 400G>R Substitution 20% coding Nonsynonymous PGDX76T EVI5L ecotropic viral integration site 5-like CCDS12188.1 chr19_7817508_7817508_C_T 27S>F Substitution 55% coding Nonsynonymous PGDX76T EXPH5 exophilin 5 CCDS8341.1 chr11_107889864_107889864_G_A 527S>F Substitution 54% coding Nonsynonymous PGDX76T EYA1 eyes absent homolog 1 (Drosophila) CCDS34906.1 chr8_72346575_72346575_G_A 313P>L Substitution 30% coding Nonsynonymous PGDX76T EZH2 enhancer of zeste homolog 2 (Drosophila) CCDS5891.1 chr7_148139661_148139661_A_G 646Y>H Substitution 22% coding Nonsynonymous PGDX76T FAM107B family with sequence similarity 107; member B CCDS7102.1 chr10_14856398_14856398_G_A 91R>W Substitution 26% coding Nonsynonymous PGDX76T FAM115C family with sequence similarity 115; member C CCDS34769.1 chr7_143047714_143047714_G_A 210G>E Substitution 18% coding Nonsynonymous PGDX76T FAM135B family with sequence similarity 135; member B CCDS6375.2 chr8_139233351_139233351_C_T 850G>E Substitution 29% coding PGDX76T FAM135B family with sequence similarity 135; member B CCDS6375.2 chr8_139449409_139449409_G_A NA Substitution UTR 28% Nonsynonymous PGDX76T FAM135B family with sequence similarity 135; member B CCDS6375.2 chr8_139332308_139332308_G_A 167T>I Substitution 28% coding PGDX76T FAM155A family with sequence similarity 155; member A CCDS32006.1 chr13_107316540_107316540_C_T 136G>R Substitution Nonsynonymous 22% coding Nonsynonymous PGDX76T FAM170B family with sequence similarity 170; member B NM_001164484 chr10_50010035_50010035_C_T 161D>N Substitution 39% coding Nonsynonymous PGDX76T FAM5B family with sequence similarity 5; member B CCDS1320.1 chr1_175512083_175512083_C_T 301P>L Substitution 33% coding Nonsynonymous PGDX76T FAM65C family with sequence similarity 65; member C CCDS13431.2 chr20_48647567_48647567_C_T 579A>T Substitution 23% coding Nonsynonymous PGDX76T FAM71F2 family with sequence similarity 71; member F2 NM_001012454 chr7_128104957_128104957_G_A 157E>K Substitution 20% coding Nonsynonymous PGDX76T FAM83B family with sequence similarity 83; member B CCDS34479.1 chr6_54843256_54843256_G_A 85D>N Substitution 19% coding Nonsynonymous PGDX76T FAM83C family with sequence similarity 83; member C CCDS13251.1 chr20_33337756_33337756_G_A 747S>F Substitution 32% coding Nonsynonymous PGDX76T FAM92A1 family with sequence similarity 92; member A1 ENST00000359421 chr8_94786357_94786357_G_T 125K>N Substitution 24% coding Nonsynonymous PGDX76T FANK1 fibronectin type III and ankyrin repeat domains 1 CCDS31309.1 chr10_127667168_127667168_C_T 84R>C Substitution 26% coding Nonsynonymous PGDX76T FAT4 FAT tumor suppressor homolog 4 (Drosophila) CCDS3732.2 chr4_126589923_126589923_G_A 2768D>N Substitution 26% coding Nonsynonymous PGDX76T FAT4 FAT tumor suppressor homolog 4 (Drosophila) CCDS3732.2 chr4_126617981_126617981_G_C 4137C>S Substitution 34% coding Nonsynonymous PGDX76T FBLN2 fibulin 2 ENST00000295761 chr3_13654345_13654345_G_A 1206M>I Substitution 22% coding Nonsynonymous PGDX76T FBN2 fibrillin 2 CCDS34222.1 chr5_127772328_127772328_C_T 339G>E Substitution 30% coding Nonsynonymous PGDX76T FBN3 fibrillin 3 CCDS12196.1 chr19_8112871_8112871_G_A 231P>L Substitution 57% coding Nonsynonymous PGDX76T FBXO2 F-box protein 2 CCDS130.1 chr1_11633347_11633347_C_T 52E>K Substitution 33% coding Nonsynonymous PGDX76T FCAR Fc fragment of IgA; receptor for CCDS12907.1 chr19_60078630_60078630_G_A 23E>K Substitution 49% coding Nonsynonymous PGDX76T FCGR3A Fc fragment of IgG; low affinity IIIa; receptor (CD16a) CCDS1232.1 chr1_159781349_159781349_G_A 151R>W Substitution 28% coding Nonsynonymous PGDX76T FCN1 ficolin (collagen/fibrinogen domain containing) 1 CCDS6985.1 chr9_136941569_136941569_G_A 293L>F Substitution 24% coding Nonsynonymous PGDX76T FERMT3 fermitin family homolog 3 (Drosophila) CCDS8060.1 chr11_63747496_63747496_G_A 654E>K Substitution 40% coding Nonsynonymous PGDX76T FGF21 fibroblast growth factor 21 CCDS12734.1 chr19_53952094_53952094_G_A 112G>E Substitution 55% coding Nonsynonymous PGDX76T FGF23 fibroblast growth factor 23 CCDS8526.1 chr12_4349982_4349982_C_T 182E>K Substitution 31% coding Nonsynonymous PGDX76T FGFR1OP2 FGFR1 oncogene partner 2 CCDS8709.1 chr12_27004730_27004730_C_T 138R>C Substitution 31% coding Nonsynonymous PGDX76T FGFR2 fibroblast growth factor receptor 2 CCDS7620.2 chr10_123288179_123288179_A_G 222V>A Substitution 26% coding Nonsynonymous PGDX76T FGFR4 fibroblast growth factor receptor 4 ENST00000377207 chr5_176450532_176450532_C_T 254P>S Substitution 27% coding Nonsynonymous PGDX76T FHDC1 FH2 domain containing 1 CCDS34081.1 chr4_154083873_154083873_A_T 72I>F Substitution 17% coding Nonsynonymous PGDX76T FKBP5 Peptidyl-prolyl cis-trans isomerase ENST00000328558 chr13_106314599_106314599_C_T 13D>N Substitution 26% coding PGDX76T FLG2 filaggrin family member 2 CCDS30861.1 chr1_150592789_150592789_T_A 1366Q>L Substitution Nonsynonymous 14% coding Nonsynonymous PGDX76T FMN2 formin 2 CCDS31069.1 chr1_238668036_238668036_G_A 1798E>K Substitution 27% coding Nonsynonymous PGDX76T FN1 fibronectin 1 CCDS42814.1 chr2_215983058_215983058_C_T 656E>K Substitution 33% coding Nonsynonymous PGDX76T FOXF2 forkhead box F2 CCDS4472.1 chr6_1335722_1335722_G_A 181E>K Substitution 21% coding PGDX76T FOXI3 forkhead box protein I3 NM_001135649 chr2_88529466_88529466_G_A NA Substitution Splice site 28% Nonsynonymous PGDX76T FRMPD2 FERM and PDZ domain containing 2 CCDS31195.1 chr10_49065331_49065331_C_T 726G>S Substitution 29% coding Nonsynonymous PGDX76T FRMPD4 FERM and PDZ domain containing 4 CCDS35201.1 chrX_12645577_12645577_C_T 904S>L Substitution 46% coding Nonsynonymous PGDX76T FSIP2 Fibrous sheath-interacting protein 2 ENST00000326147 chr2_186319661_186319661_G_A 4R>K Substitution 29% coding Nonsynonymous PGDX76T FSIP2 fibrous sheath interacting protein 2 ENST00000344648 chr2_186370429_186370429_G_A 725E>K Substitution 30% coding Nonsynonymous PGDX76T FSIP2 fibrous sheath interacting protein 2 ENST00000397005 chr2_186368242_186368242_G_A 213G>R Substitution 29% coding Nonsynonymous PGDX76T FUBP1 far upstream element (FUSE) binding protein 1 CCDS683.1 chr1_78194850_78194850_C_T 567G>E Substitution 21% coding Nonsynonymous PGDX76T FUT9 fucosyltransferase 9 (alpha (1;3) fucosyltransferase) CCDS5033.1 chr6_96757772_96757772_G_A 7G>E Substitution 46% coding Nonsynonymous PGDX76T FYCO1 FYVE and coiled-coil domain containing 1 CCDS2734.1 chr3_45984154_45984155_GG_AA 559P>L Substitution 43% coding Nonsynonymous PGDX76T GABRA3 gamma-aminobutyric acid (GABA) A receptor; alpha 3 CCDS14706.1 chrX_151264729_151264729_C_T 81R>Q Substitution 40% coding Nonsynonymous PGDX76T GABRB3 gamma-aminobutyric acid (GABA) A receptor; beta 3 CCDS10018.1 chr15_24357285_24357285_C_T 323E>K Substitution 28% coding Nonsynonymous PGDX76T GABRE gamma-aminobutyric acid (GABA) A receptor; epsilon CCDS14703.1 chrX_150874914_150874914_G_A 287P>S Substitution 43% coding Nonsynonymous PGDX76T GABRG1 gamma-aminobutyric acid (GABA) A receptor; gamma 1 CCDS3470.1 chr4_45793990_45793990_G_A 80R>C Substitution 22% coding PGDX76T GABRG1 gamma-aminobutyric acid (GABA) A receptor; gamma 1 CCDS3470.1 chr4_45755363_45755363_C_T 220W>X Substitution Nonsense 31% Nonsynonymous PGDX76T GBA3 Cytosolic beta-glucosidase ENST00000317327 chr4_22359645_22359645_G_A 391E>K Substitution 27% coding Nonsynonymous PGDX76T GCM2 glial cells missing homolog 2 (Drosophila) CCDS4517.1 chr6_10982245_10982245_G_A 497P>L Substitution 19% coding Nonsynonymous PGDX76T GFOD1 glucose-fructose oxidoreductase domain containing 1 CCDS4524.1 chr6_13473452_13473452_C_T 225M>I Substitution 17% coding golgi-associated; gamma adaptin ear containing; ARF binding Nonsynonymous PGDX76T GGA3 CCDS11717.1 chr17_70769247_70769247_C_T 6G>E Substitution 31% protein 3 coding PGDX76T GGPS1 geranylgeranyl diphosphate synthase 1 CCDS1604.1 chr1_233572024_233572024_C_T 73R>X Substitution Nonsense 19% Nonsynonymous PGDX76T GHRHR growth hormone releasing hormone receptor ENST00000242046 chr7_30978276_30978276_G_A 13R>K Substitution 24% coding PGDX76T GIGYF2 GRB10 interacting GYF protein 2 CCDS33401.1 chr2_233329177_233329177_A_T 90R>X Substitution Nonsense 14% Nonsynonymous PGDX76T GIMAP2 GTPase; IMAP family member 2 CCDS5905.1 chr7_150020941_150020941_G_A 212D>N Substitution 21% coding Nonsynonymous PGDX76T GIMAP4 GTPase; IMAP family member 4 CCDS5904.1 chr7_149900908_149900908_G_A 273E>K Substitution 20% coding PGDX76T GJA10 gap junction protein; alpha 10; 62kDa CCDS5025.1 chr6_90660945_90660945_G_A 13E>K Substitution Nonsynonymous 39% coding Nonsynonymous PGDX76T GK2 glycerol kinase 2 CCDS3585.1 chr4_80548279_80548279_C_T 34E>K Substitution 27% coding Nonsynonymous PGDX76T GLDC glycine dehydrogenase (decarboxylating) CCDS34987.1 chr9_6634674_6634674_C_T 92E>K Substitution 25% coding Nonsynonymous PGDX76T GLRA3 glycine receptor; alpha 3 CCDS3822.1 chr4_175816796_175816796_C_T 352R>Q Substitution 27% coding Nonsynonymous PGDX76T GLYAT glycine-N-acyltransferase CCDS7970.1 chr11_58234159_58234159_T_C 183K>E Substitution 37% coding Nonsynonymous PGDX76T GNA12 guanine nucleotide binding protein (G protein) alpha 12 ENST00000407904 chr7_2821047_2821047_G_A 15P>L Substitution 18% coding Nonsynonymous PGDX76T GOLGA8B golgin A8 family; member B NM_001023567 chr15_32607235_32607235_C_T 568V>I Substitution 23% coding Nonsynonymous PGDX76T GPLD1 glycosylphosphatidylinositol specific phospholipase D1 CCDS4553.1 chr6_24556369_24556369_G_A 498S>F Substitution 19% coding Nonsynonymous PGDX76T GPLD1 glycosylphosphatidylinositol specific phospholipase D1 CCDS4553.1 chr6_24556381_24556381_C_T 494G>E Substitution 17% coding Nonsynonymous PGDX76T GPR112 G protein-coupled receptor 112 CCDS35409.1 chrX_135257772_135257772_C_T 1414S>L Substitution 51% coding Nonsynonymous PGDX76T GPR115 G protein-coupled receptor 115 CCDS4922.2 chr6_47786504_47786504_G_A 75G>R Substitution 20% coding Nonsynonymous PGDX76T GPR115 G protein-coupled receptor 115 CCDS4922.2 chr6_47786567_47786567_G_A 96E>K Substitution 20% coding Nonsynonymous PGDX76T GPR141 G protein-coupled receptor 141 CCDS5451.1 chr7_37747319_37747319_G_A 267E>K Substitution 44% coding Nonsynonymous PGDX76T GPR179 G protein-coupled receptor 179 CCDS42308.1 chr17_33736860_33736860_C_T 2040D>N Substitution 31% coding Nonsynonymous PGDX76T GPR32 G protein-coupled receptor 32 CCDS12801.1 chr19_55966663_55966663_A_C 332T>P Substitution 18% coding Nonsynonymous PGDX76T GPR39 G protein-coupled receptor 39 CCDS2170.1 chr2_132891899_132891899_G_A 272E>K Substitution 24% coding Nonsynonymous PGDX76T GPR98 G protein-coupled receptor 98 NM_032119 chr5_89950735_89950735_G_A 145G>E Substitution 26% coding Nonsynonymous PGDX76T GPR98 G protein-coupled receptor 98 NM_032119 chr5_90088052_90088052_G_A 3869G>E Substitution 24% coding Nonsynonymous PGDX76T GPX6 glutathione peroxidase 6 (olfactory) CCDS43432.1 chr6_28581532_28581532_A_G 129V>A Substitution 18% coding Nonsynonymous PGDX76T GPX8 glutathione peroxidase 8 (putative) CCDS34156.1 chr5_54495745_54495746_GG_AA 191R>K Substitution 33% coding Nonsynonymous PGDX76T GRAMD1B GRAM domain-containing protein 1B NM_020716 chr11_122984682_122984682_C_T 397P>L Substitution 38% coding Nonsynonymous PGDX76T GRIA4 glutamate receptor; ionotrophic; AMPA 4 CCDS8333.1 chr11_105238073_105238073_C_T 201L>F Substitution 58% coding Nonsynonymous PGDX76T GRID2 glutamate receptor; ionotropic; delta 2 CCDS3637.1 chr4_94251086_94251086_C_T 232L>F Substitution 20% coding Nonsynonymous PGDX76T GRIN2A glutamate receptor; ionotropic; N-methyl D-aspartate 2A CCDS10539.1 chr16_9764937_9764937_C_T 1322G>E Substitution 29% coding Nonsynonymous PGDX76T GRIN2B glutamate receptor; ionotropic; N-methyl D-aspartate 2B CCDS8662.1 chr12_13607847_13607847_C_T 1198E>K Substitution 21% coding Nonsynonymous PGDX76T GRIN3A glutamate receptor; ionotropic; N-methyl-D-aspartate 3A CCDS6758.1 chr9_103472237_103472237_A_T 760Y>N Substitution 22% coding PGDX76T GRIP2 glutamate receptor-interacting protein 2 NM_001080423 chr3_14538192_14538192_C_T 322E>K Substitution Nonsynonymous 35% coding Nonsynonymous PGDX76T GRM3 glutamate receptor; metabotropic 3 CCDS5600.1 chr7_86232449_86232450_GG_AA 18G>K Substitution 32% coding Nonsynonymous PGDX76T GRM5 glutamate receptor; metabotropic 5 CCDS8283.1 chr11_87940085_87940085_G_A 805S>L Substitution 27% coding Nonsynonymous PGDX76T GRM7 glutamate receptor; metabotropic 7 CCDS43042.1 chr3_7478395_7478395_G_A 501E>K Substitution 26% coding Nonsynonymous PGDX76T GRM7 glutamate receptor; metabotropic 7 CCDS43042.1 chr3_7595965_7595965_G_A 791G>E Substitution 26% coding Nonsynonymous PGDX76T GRM8 glutamate receptor; metabotropic 8 CCDS5794.1 chr7_125960516_125960516_G_A 719P>L Substitution 23% coding Nonsynonymous PGDX76T GSDMD gasdermin D CCDS34956.1 chr8_144712805_144712805_C_T 53R>C Substitution 23% coding Nonsynonymous PGDX76T GTF3C2 general transcription factor IIIC; polypeptide 2; beta 110kDa CCDS1749.1 chr2_27418560_27418560_G_A 205A>V Substitution 34% coding Nonsynonymous PGDX76T GUCY2C guanylate cyclase 2C (heat stable enterotoxin receptor) CCDS8664.1 chr12_14665282_14665282_G_A 913P>S Substitution 25% coding Nonsynonymous PGDX76T GYS1 glycogen synthase 1 (muscle) CCDS12747.1 chr19_54165718_54165718_G_A 569S>F Substitution 59% coding Nonsynonymous PGDX76T HBD Hemoglobin subunit delta CCDS31376.1 chr11_5212218_5212218_C_T 8E>K Substitution 23% coding Nonsynonymous PGDX76T HCCS holocytochrome c synthase CCDS14139.1 chrX_11049817_11049817_G_A 258R>K Substitution 49% coding hyperpolarization activated cyclic nucleotide-gated potassium Nonsynonymous PGDX76T HCN1 CCDS3952.1 chr5_45298529_45298529_G_A 642P>S Substitution 21% channel 1 coding Nonsynonymous PGDX76T HDC histidine decarboxylase CCDS10134.1 chr15_48336943_48336943_G_C 138P>A Substitution 45% coding Nonsynonymous PGDX76T HECW1 HECT; C2 and WW domain containing E3 ubiquitin protein ligase 1 CCDS5469.2 chr7_43451479_43451479_C_T 728S>F Substitution 20% coding Nonsynonymous PGDX76T HEPHL1 hephaestin-like protein 1 precursor NM_001098672 chr11_93458896_93458896_G_A 658G>E Substitution 46% coding Nonsynonymous PGDX76T HFE hemochromatosis CCDS4578.1 chr6_26201081_26201081_C_T 269T>I Substitution 19% coding Nonsynonymous PGDX76T HGF hepatocyte growth factor (hepapoietin A; scatter factor) CCDS5597.1 chr7_81173669_81173669_C_T 543D>N Substitution 21% coding Nonsynonymous PGDX76T HHIP hedgehog interacting protein CCDS3762.1 chr4_145854869_145854869_G_A 489G>D Substitution 27% coding Nonsynonymous PGDX76T HHLA1 HERV-H LTR-associating protein 1 NM_001145095 chr8_133181539_133181539_C_T 55R>K Substitution 29% coding PGDX76T HIF3A hypoxia inducible factor 3; alpha subunit ENST00000244303 chr19_51507546_51507546_T_G 227Y>X Substitution Nonsense 10% Nonsynonymous PGDX76T HLA-DMB Major histocompatibility complex, class II, DM beta CCDS4760.1 chr6_33016535_33016535_C_T 10G>R Substitution 20% coding Nonsynonymous PGDX76T HOXB8 homeobox B8 CCDS11533.1 chr17_44046773_44046773_C_T 98G>D Substitution 27% coding Nonsynonymous PGDX76T HOXC5 homeobox C5 CCDS8872.1 chr12_52713370_52713370_A_G 66N>S Substitution 33% coding Nonsynonymous PGDX76T HTR3A 5-hydroxytryptamine (serotonin) receptor 3A CCDS8366.1 chr11_113359058_113359058_T_G 127D>E Substitution 50% coding Nonsynonymous PGDX76T HTT huntingtin CCDS43206.1 chr4_3106011_3106011_C_T 860S>F Substitution 31% coding Nonsynonymous PGDX76T HYDIN hydrocephalus inducing homolog (mouse) CCDS42189.1 chr16_69611664_69611664_T_G 1082T>P Substitution 22% coding Nonsynonymous PGDX76T HYDIN hydrocephalus inducing homolog (mouse) CCDS42189.1 chr16_69527496_69527496_C_T 2339E>K Substitution 18% coding Nonsynonymous PGDX76T IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase CCDS34490.1 chr6_82980921_82980921_G_A 649P>L Substitution 47% coding Nonsynonymous PGDX76T IGF1R insulin-like growth factor 1 receptor CCDS10378.1 chr15_97276718_97276718_C_T 611P>S Substitution 23% coding Nonsynonymous PGDX76T IGLV4-60 immunoglobulin lambda variable 4-60 ENST00000390284 chr22_20846884_20846884_C_A 58Q>K Substitution 11% coding Nonsynonymous PGDX76T IGSF21 immunoglobin superfamily; member 21 CCDS184.1 chr1_18576013_18576013_C_T 412R>C Substitution 28% coding Nonsynonymous PGDX76T IGSF9B immunoglobulin superfamily, member 9B NM_014987 chr11_133296090_133296090_G_A 914P>S Substitution 44% coding Nonsynonymous PGDX76T IL11RA interleukin 11 receptor; alpha CCDS6567.1 chr9_34648590_34648590_G_C 240W>C Substitution 26% coding Nonsynonymous PGDX76T IL1F7 interleukin 1 family; member 7 (zeta) CCDS2103.1 chr2_113392612_113392612_G_A 138E>K Substitution 32% coding Nonsynonymous PGDX76T IL1F9 interleukin 1 family; member 9 CCDS2108.1 chr2_113452714_113452714_G_A 10G>S Substitution 26% coding Nonsynonymous PGDX76T IL1RL1 interleukin 1 receptor-like 1 CCDS2057.1 chr2_102331974_102331974_G_A 374G>E Substitution 36% coding Nonsynonymous PGDX76T IL31RA interleukin 31 receptor A CCDS3970.2 chr5_55191161_55191161_C_T 44S>L Substitution 23% coding Nonsynonymous PGDX76T INADL InaD-like (Drosophila) CCDS617.2 chr1_62013539_62013539_G_A 265G>E Substitution 29% coding Nonsynonymous PGDX76T INO80D INO80 complex subunit D NM_017759 chr2_206577677_206577677_G_A 915S>F Substitution 32% coding Nonsynonymous PGDX76T INPP5E inositol polyphosphate-5-phosphatase; 72 kDa CCDS7000.1 chr9_138446112_138446112_G_A 512R>W Substitution 35% coding Nonsynonymous PGDX76T INS insulin CCDS7729.1 chr11_2137777_2137777_G_A 72P>S Substitution 36% coding Nonsynonymous PGDX76T INTS1 integrator complex subunit 1 NM_001080453 chr7_1493250_1493250_G_A 887S>F Substitution 40% coding Nonsynonymous PGDX76T IQCB1 IQ motif containing B1 CCDS33837.1 chr3_123030422_123030422_G_A 26P>S Substitution 21% coding Nonsynonymous PGDX76T IQCH IQ motif containing H CCDS32273.1 chr15_65500949_65500949_C_T 829P>S Substitution 31% coding Nonsynonymous PGDX76T IRGC immunity-related GTPase family; cinema CCDS12629.1 chr19_48914683_48914683_G_A 45E>K Substitution 59% coding Nonsynonymous PGDX76T ISCA1 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) CCDS35056.1 chr9_88076841_88076841_C_T 48V>I Substitution 21% coding Nonsynonymous PGDX76T ITFG1 integrin alpha FG-GAP repeat containing 1 CCDS10728.1 chr16_45957257_45957257_T_A 249I>L Substitution 63% coding Nonsynonymous PGDX76T ITGA10 integrin; alpha 10 CCDS918.1 chr1_144241731_144241731_A_T 197I>F Substitution 37% coding PGDX76T ITGA7 integrin; alpha 7 CCDS8888.1 chr12_54381206_54381206_C_T NA Substitution Splice site 22% PGDX76T ITGAM integrin alpha-M isoform 1 precursor NM_001145808 chr16_31192218_31192218_C_T 246R>X Substitution Nonsense 21% Nonsynonymous PGDX76T ITGAM integrin alpha-M isoform 1 precursor NM_001145808 chr16_31216694_31216694_C_T 543A>V Substitution 30% coding Nonsynonymous PGDX76T ITGAX integrin; alpha X (complement component 3 receptor 4 subunit) CCDS10711.1 chr16_31274086_31274086_A_T 4T>S Substitution 18% coding Nonsynonymous PGDX76T JPH3 junctophilin 3 CCDS10962.1 chr16_86281312_86281312_G_T 615M>I Substitution 60% coding Nonsynonymous PGDX76T JUP junction plakoglobin CCDS11407.1 chr17_37172834_37172834_G_A 475S>F Substitution 24% coding Nonsynonymous PGDX76T KALRN kalirin; RhoGEF kinase CCDS3027.1 chr3_125635937_125635937_G_A 973D>N Substitution 30% coding Nonsynonymous PGDX76T KANK4 KN motif and ankyrin repeat domains 4 CCDS620.1 chr1_62476594_62476594_C_T 977M>I Substitution 24% coding potassium voltage-gated channel; shaker-related subfamily; Nonsynonymous PGDX76T KCNA10 CCDS826.1 chr1_110862139_110862139_G_A 265T>I Substitution 31% member 10 coding potassium voltage-gated channel; Shab-related subfamily; Nonsynonymous PGDX76T KCNB2 CCDS6209.1 chr8_73642876_73642876_C_T 118S>L Substitution 30% member 2 coding potassium voltage-gated channel; Shab-related subfamily; Nonsynonymous PGDX76T KCNB2 CCDS6209.1 chr8_74011185_74011185_G_A 347M>I Substitution 25% member 2 coding potassium voltage-gated channel; Shaw-related subfamily; Nonsynonymous PGDX76T KCNC1 CCDS7827.1 chr11_17749927_17749927_G_A 237R>Q Substitution 56% member 1 coding potassium voltage-gated channel; subfamily H (eag-related); Nonsynonymous PGDX76T KCNH8 CCDS2632.1 chr3_19359095_19359095_G_A 152G>E Substitution 30% member 8 coding Nonsynonymous PGDX76T KCNK1 potassium channel; subfamily K; member 1 CCDS1599.1 chr1_231869167_231869167_C_T 187L>F Substitution 36% coding Nonsynonymous PGDX76T KCNQ3 potassium voltage-gated channel; KQT-like subfamily; member 3 CCDS34943.1 chr8_133221540_133221540_C_T 511M>I Substitution 28% coding PGDX76T KCNQ5 potassium voltage-gated channel; KQT-like subfamily; member 5 ENST00000355635 chr6_73891849_73891849_G_A NA Substitution Splice site 41% Nonsynonymous PGDX76T KDR kinase insert domain receptor (a type III receptor tyrosine kinase) CCDS3497.1 chr4_55668815_55668815_G_A 420P>S Substitution 19% coding Nonsynonymous PGDX76T KIAA0100 KIAA0100 CCDS32595.1 chr17_23984701_23984701_G_A 1153A>V Substitution 26% coding Nonsynonymous PGDX76T KIAA0319L KIAA0319-like CCDS390.1 chr1_35713086_35713086_C_T 308E>K Substitution 23% coding Nonsynonymous PGDX76T KIAA0427 KIAA0427 CCDS11935.1 chr18_44444167_44444167_G_T 100W>L Substitution 23% coding Nonsynonymous PGDX76T KIAA0652 KIAA0652 CCDS7921.1 chr11_46623520_46623520_C_T 42S>L Substitution 29% coding Nonsynonymous PGDX76T KIAA0947 hypothetical protein LOC23379 NM_015325 chr5_5515623_5515623_C_T 1059A>V Substitution 25% coding Nonsynonymous PGDX76T KIAA1109 KIAA1109 CCDS43267.1 chr4_123369783_123369783_C_T 994R>C Substitution 37% coding Nonsynonymous PGDX76T KIAA1217 KIAA1217 CCDS31165.1 chr10_24802643_24802643_G_A 443E>K Substitution 29% coding PGDX76T KIAA1529 KIAA1529 ENST00000375202 chr9_99149593_99149593_G_A NA Substitution Splice site 27% Nonsynonymous PGDX76T KIAA1984 KIAA1984 CCDS43906.1 chr9_138813418_138813418_G_A 38M>I Substitution 26% coding PGDX76T KIF13A kinesin-like protein KIF13A isoform a NM_022113 chr6_17945711_17945711_G_A 305R>X Substitution Nonsense 20% PGDX76T KIF6 kinesin family member 6 CCDS4844.1 chr6_39790516_39790516_G_A 61Q>X Substitution Nonsense 34% Nonsynonymous PGDX76T KIR3DX1 killer cell immunoglobulin-like receptor; three domains; X1 ENST00000221567 chr19_59739967_59739967_C_T 241T>I Substitution 66% coding PGDX76T KLC1 kinesin light chain 1 CCDS41996.1 chr14_103206365_103206365_C_T 327R>X Substitution Nonsense 33% Nonsynonymous PGDX76T KLHDC4 kelch domain containing 4 CCDS10963.1 chr16_86302487_86302487_G_A 300S>F Substitution 54% coding PGDX76T KLHL14 kelch-like 14 (Drosophila) CCDS32813.1 chr18_28529516_28529516_G_A NA Substitution Splice site 38% Nonsynonymous PGDX76T KLHL22 Kelch-like protein 22 CCDS13780.1 chr22_19173489_19173489_C_T 4E>K Substitution 24% coding Nonsynonymous PGDX76T KNTC1 kinetochore-associated protein 1 NM_014708 chr12_121621622_121621622_C_T 672S>F Substitution 29% coding Nonsynonymous PGDX76T KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25271541_25271541_C_T 62E>K Substitution 21% coding Nonsynonymous PGDX76T KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog CCDS8703.1 chr12_25271542_25271543_TT_GC 61Q>R Substitution 21% coding PGDX76T KRT15 keratin 15 CCDS11398.1 chr17_36925344_36925344_G_A 385Q>X Substitution Nonsense 27% Nonsynonymous PGDX76T KRT5 keratin 5 CCDS8830.1 chr12_51200140_51200140_C_T 70G>S Substitution 25% coding Nonsynonymous PGDX76T KRT7 keratin 7 CCDS8822.1 chr12_50925523_50925523_G_A 349D>N Substitution 26% coding Nonsynonymous PGDX76T KRT71 keratin 71 CCDS8831.1 chr12_51230294_51230294_C_T 148V>M Substitution 30% coding Nonsynonymous PGDX76T KRT76 keratin 76 CCDS8838.1 chr12_51448837_51448837_G_A 615S>F Substitution 26% coding Nonsynonymous PGDX76T LAMA1 laminin; alpha 1 CCDS32787.1 chr18_6976311_6976311_T_C 1735N>S Substitution 29% coding Nonsynonymous PGDX76T LAMA3 laminin; alpha 3 CCDS42419.1 chr18_19735158_19735158_G_C 2025R>P Substitution 29% coding Nonsynonymous PGDX76T LAP3 leucine aminopeptidase 3 CCDS3422.1 chr4_17199599_17199599_C_T 255S>F Substitution 31% coding Nonsynonymous PGDX76T LARP1B La ribonucleoprotein domain family; member 1B CCDS3738.1 chr4_129302877_129302877_G_C 535E>Q Substitution 24% coding Nonsynonymous PGDX76T LARS2 leucyl-tRNA synthetase 2; mitochondrial CCDS2728.1 chr3_45563898_45563898_G_A 862D>N Substitution 28% coding PGDX76T LASS6 LAG1 homolog; ceramide synthase 6 CCDS2228.1 chr2_169125995_169125995_G_A 108W>X Substitution Nonsense 24% Nonsynonymous PGDX76T LCT lactase CCDS2178.1 chr2_136264739_136264739_C_T 1765R>K Substitution 34% coding Nonsynonymous PGDX76T LGALS3 lectin; galactoside-binding; soluble; 3 CCDS41956.1 chr14_54674607_54674607_C_T 37P>L Substitution 32% coding Nonsynonymous PGDX76T LGI2 leucine-rich repeat LGI family; member 2 CCDS3431.1 chr4_24614368_24614368_C_T 481G>R Substitution 25% coding Nonsynonymous PGDX76T LGR6 leucine-rich repeat-containing G protein-coupled receptor 6 CCDS30971.1 chr1_200512091_200512091_G_A 155E>K Substitution 33% coding Nonsynonymous PGDX76T LMF1 lipase maturation factor 1 NM_022773 chr16_944530_944530_G_A 111P>S Substitution 23% coding Nonsynonymous PGDX76T LMO7 LIM domain 7 CCDS9454.1 chr13_75291551_75291551_C_T 414R>C Substitution 26% coding Nonsynonymous PGDX76T LONRF2 LON peptidase N-terminal domain and ring finger 2 CCDS2046.2 chr2_100267265_100267265_C_T 731R>Q Substitution 19% coding Nonsynonymous PGDX76T LPAR4 lysophosphatidic acid receptor 4 CCDS14441.1 chrX_77897552_77897552_C_T 177S>F Substitution 38% coding Nonsynonymous PGDX76T LPHN3 latrophilin-3 precursor NM_015236 chr4_62495347_62495347_C_T 779S>F Substitution 26% coding Nonsynonymous PGDX76T LPIN3 lipin 3 CCDS33469.1 chr20_39412305_39412305_C_T 319P>L Substitution 29% coding Nonsynonymous PGDX76T LPP LIM domain containing preferred translocation partner in lipoma CCDS3291.1 chr3_189810253_189810253_C_T 347P>L Substitution 21% coding Nonsynonymous PGDX76T LRBA LPS-responsive vesicle trafficking; beach and anchor containing CCDS3773.1 chr4_151739650_151739650_G_A 2002S>L Substitution 28% coding Nonsynonymous PGDX76T LRFN2 leucine rich repeat and fibronectin type III domain containing 2 CCDS34443.1 chr6_40508347_40508347_G_A 162H>Y Substitution 18% coding Nonsynonymous PGDX76T LRFN2 leucine rich repeat and fibronectin type III domain containing 2 CCDS34443.1 chr6_40508310_40508310_T_C 174N>S Substitution 20% coding Nonsynonymous PGDX76T LRP2 low density lipoprotein receptor-related protein 2 CCDS2232.1 chr2_169693445_169693445_G_A 4648L>F Substitution 30% coding Nonsynonymous PGDX76T LRRC16B leucine rich repeat containing 16B CCDS32054.1 chr14_23593781_23593781_C_G 128N>K Substitution 26% coding PGDX76T LRRC19 leucine rich repeat containing 19 CCDS6518.1 chr9_26987799_26987799_A_C 174Y>X Substitution Nonsense 29% Nonsynonymous PGDX76T LRRC53 leucine rich repeat containing 53 ENST00000294635 chr1_74714082_74714082_C_T 302G>E Substitution 21% coding Nonsynonymous PGDX76T LRRN4 leucine rich repeat neuronal 4 CCDS13097.1 chr20_5970860_5970860_C_T 344G>E Substitution 27% coding Nonsynonymous PGDX76T LRRTM1 leucine rich repeat transmembrane neuronal 1 CCDS1966.1 chr2_80383171_80383171_C_T 429V>I Substitution 27% coding Nonsynonymous PGDX76T LTBP4 latent transforming growth factor beta binding protein 4 ENST00000308370 chr19_45814932_45814932_C_A 1078Q>K Substitution 10% coding Nonsynonymous PGDX76T LTBP4 latent transforming growth factor beta binding protein 4 ENST00000308370 chr19_45814933_45814933_A_G 1078Q>R Substitution 13% coding PGDX76T LZTR1 leucine-zipper-like transcription regulator 1 CCDS33606.1 chr22_19677079_19677079_C_T NA Substitution Splice site 17% Nonsynonymous PGDX76T M6PR mannose-6-phosphate receptor (cation dependent) CCDS8598.1 chr12_8987695_8987695_A_T 141V>E Substitution 10% coding Nonsynonymous PGDX76T MACF1 microtubule-actin crosslinking factor 1 CCDS436.1 chr1_39573896_39573896_C_T 1457P>S Substitution 21% coding Nonsynonymous PGDX76T MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) CCDS43539.1 chr7_2236271_2236272_GG_AA 8T>I Substitution 24% coding Nonsynonymous PGDX76T MAEL maelstrom homolog (Drosophila) CCDS1257.1 chr1_165257585_165257585_G_A 392G>R Substitution 10% coding Nonsynonymous PGDX76T MAGEB3 melanoma antigen family B; 3 CCDS14220.1 chrX_30164419_30164419_C_T 153L>F Substitution 61% coding Nonsynonymous PGDX76T MAGEB5 melanoma antigen family B; 5 ENST00000379029 chrX_26145835_26145835_A_C 166K>Q Substitution 10% coding Nonsynonymous PGDX76T MAGEC1 melanoma antigen family C; 1 CCDS35417.1 chrX_140824082_140824082_C_T 1076H>Y Substitution 45% coding Nonsynonymous PGDX76T MAGEL2 MAGE-like protein 2 NM_019066 chr15_21440453_21440453_G_C 1177P>R Substitution 32% coding Nonsynonymous PGDX76T MAGEL2 MAGE-like protein 2 NM_019066 chr15_21440730_21440730_G_A 1085H>Y Substitution 26% coding Nonsynonymous PGDX76T MAN2A2 mannosidase; alpha; class 2A; member 2 CCDS32332.1 chr15_89256872_89256872_C_T 815L>F Substitution 21% coding Nonsynonymous PGDX76T MAP1B microtubule-associated protein 1B CCDS4012.1 chr5_71527900_71527900_G_A 988E>K Substitution 23% coding Nonsynonymous PGDX76T MAP3K13 mitogen-activated protein kinase kinase kinase 13 CCDS3270.1 chr3_186629112_186629112_C_T 17P>S Substitution 24% coding Nonsynonymous PGDX76T MAPK10 mitogen-activated protein kinase 10 CCDS34026.1 chr4_87157508_87157508_G_A 431S>L Substitution 25% coding Nonsynonymous PGDX76T MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 CCDS31001.1 chr1_204970043_204970043_C_T 223P>L Substitution 11% coding Nonsynonymous PGDX76T 10-mar membrane-associated ring finger (C3HC4) 10 CCDS11635.1 chr17_58153685_58153685_C_T 704D>N Substitution 27% coding Nonsynonymous PGDX76T MAST1 microtubule associated serine/threonine kinase 1 CCDS32921.1 chr19_12845768_12845768_C_T 1266S>L Substitution 53% coding Nonsynonymous PGDX76T MBD4 methyl-CpG binding domain protein 4 CCDS3058.1 chr3_130634736_130634736_G_A 486P>S Substitution 26% coding Nonsynonymous PGDX76T MBD5 methyl-CpG binding domain protein 5 CCDS33302.1 chr2_148964052_148964052_C_T 1228H>Y Substitution 30% coding PGDX76T MCF2L2 MCF.2 cell line derived transforming sequence-like 2 CCDS3243.1 chr3_184500627_184500627_G_A 389Q>X Substitution Nonsense 24% PGDX76T MCTP2 multiple C2 domains; transmembrane 2 CCDS32338.1 chr15_92820926_92820926_C_T NA Substitution Splice site 47% Nonsynonymous PGDX76T MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 CCDS41948.1 chr14_46496336_46496336_G_T 396L>I Substitution 23% coding Nonsynonymous PGDX76T MECOM MDS1 and EVI1 complex locus CCDS3205.1 chr3_170316204_170316204_G_A 529S>L Substitution 26% coding Nonsynonymous PGDX76T MED12L mediator complex subunit 12-like CCDS33876.1 chr3_152360372_152360372_C_T 301R>C Substitution 29% coding Nonsynonymous PGDX76T MEFV Mediterranean fever CCDS10498.1 chr16_3237076_3237076_C_T 510D>N Substitution 26% coding Nonsynonymous PGDX76T MET met proto-oncogene (hepatocyte growth factor receptor) CCDS43636.1 chr7_116197023_116197023_C_T 891A>V Substitution 18% coding Nonsynonymous PGDX76T MFSD6L major facilitator superfamily domain containing 6-like CCDS11146.1 chr17_8641491_8641491_G_A 558S>F Substitution 24% coding Nonsynonymous PGDX76T MGA MAX gene-associated protein isoform 1 NM_001164273 chr15_39846606_39846606_C_T 3012P>S Substitution 50% coding Nonsynonymous PGDX76T MIR520G microRNA 520g MI0003166 chr19_58917320_58917320_G_A 30G>E Substitution 70% coding PGDX76T MLLT6 myeloid/lymphoid or mixed-lineage leukemia; translocated to; 6 CCDS11327.1 chr17_34117545_34117545_G_A 83W>X Substitution Nonsense 25% Nonsynonymous PGDX76T MMP12 matrix metallopeptidase 12 (macrophage elastase) ENST00000326227 chr11_102244006_102244006_G_T 210H>Q Substitution 13% coding Nonsynonymous PGDX76T MPL myeloproliferative leukemia virus oncogene CCDS483.1 chr1_43576143_43576143_C_T 13L>F Substitution 18% coding Nonsynonymous PGDX76T MSI1 musashi homolog 1 (Drosophila) CCDS9196.1 chr12_119268472_119268472_G_A 299S>L Substitution 33% coding Nonsynonymous PGDX76T MSLN mesothelin CCDS32356.1 chr16_755782_755782_G_A 296E>K Substitution 33% coding Nonsynonymous PGDX76T MTDH metadherin CCDS6274.1 chr8_98781215_98781215_G_C 369S>T Substitution 19% coding Nonsynonymous PGDX76T MUC16 mucin-16 NM_024690 chr19_8932362_8932362_G_A 5362P>S Substitution 57% coding Nonsynonymous PGDX76T MUC16 mucin-16 NM_024690 chr19_8932782_8932782_C_T 5222V>I Substitution 57% coding Nonsynonymous PGDX76T MUC16 mucin-16 NM_024690 chr19_8930339_8930339_G_A 6036S>F Substitution 59% coding Nonsynonymous PGDX76T MUC16 mucin-16 NM_024690 chr19_8927603_8927603_G_A 6948S>F Substitution 61% coding Nonsynonymous PGDX76T MUC17 mucin 17; cell surface associated CCDS34711.1 chr7_100472725_100472725_G_A 3770E>K Substitution 29% coding Nonsynonymous PGDX76T MUC5B mucin-5B precursor NM_002458 chr11_1210556_1210556_A_G 685D>G Substitution 18% coding Nonsynonymous PGDX76T MUC8 mucin 8 ENST00000397321 chr12_131559568_131559568_G_A 257T>M Substitution 13% coding Nonsynonymous PGDX76T MURC muscle-related coiled-coil protein NM_001018116 chr9_102387937_102387937_G_A 160D>N Substitution 29% coding Nonsynonymous PGDX76T MUSK muscle, skeletal receptor tyrosine-protein kinase isoform 1 NM_005592 chr9_112471078_112471078_C_T 25P>S Substitution 30% coding Nonsynonymous PGDX76T MUSK muscle, skeletal receptor tyrosine-protein kinase isoform 1 NM_005592 chr9_112570175_112570175_C_T 392P>L Substitution 28% coding Nonsynonymous PGDX76T MXRA5 matrix-remodelling associated 5 CCDS14124.1 chrX_3237890_3237890_C_T 2785G>E Substitution 41% coding Nonsynonymous PGDX76T MYH1 myosin; heavy chain 1; skeletal muscle; adult CCDS11155.1 chr17_10343111_10343111_C_T 1297E>K Substitution 27% coding Nonsynonymous PGDX76T MYH13 myosin-13 NM_003802 chr17_10145726_10145726_T_A 1896Q>L Substitution 35% coding Nonsynonymous PGDX76T MYH13 myosin-13 NM_003802 chr17_10187923_10187923_C_T 605E>K Substitution 30% coding Nonsynonymous PGDX76T MYH15 myosin; heavy chain 15 CCDS43127.1 chr3_109712073_109712073_T_A 19I>L Substitution 35% coding PGDX76T MYH15 myosin; heavy chain 15 CCDS43127.1 chr3_109701017_109701017_G_A 187R>X Substitution Nonsense 21% Nonsynonymous PGDX76T MYH2 myosin; heavy chain 2; skeletal muscle; adult CCDS11156.1 chr17_10375812_10375812_C_T 854E>K Substitution 25% coding PGDX76T MYH2 myosin; heavy chain 2; skeletal muscle; adult CCDS11156.1 chr17_10369661_10369661_G_A NA Substitution Splice site 33% Nonsynonymous PGDX76T MYH7 myosin; heavy chain 7; cardiac muscle; beta CCDS9601.1 chr14_22958921_22958922_GG_AT 1233S>Y Substitution 25% coding Nonsynonymous PGDX76T MYO18A myosin-XVIIIa isoform a NM_078471 chr17_24517384_24517384_G_A 234S>F Substitution 30% coding Nonsynonymous PGDX76T MYO7B myosin-VIIb NM_001080527 chr2_128052232_128052232_C_T 302R>C Substitution 21% coding Nonsynonymous PGDX76T MYOCD myocardin CCDS11163.1 chr17_12566963_12566963_G_A 110E>K Substitution 28% coding Nonsynonymous PGDX76T NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1 ENST00000340252 chr11_64577490_64577490_C_T 376G>E Substitution 34% coding Nonsynonymous PGDX76T NBEA neurobeachin isoform 1 NM_015678 chr13_34633987_34633987_G_A 1321S>N Substitution 31% coding Nonsynonymous PGDX76T NCOR1 nuclear receptor co-repressor 1 CCDS11175.1 chr17_15935941_15935941_G_A 993P>S Substitution 28% coding Nonsynonymous PGDX76T NCR3 Natural cytotoxicity triggering receptor 3 precursor CCDS34397.1 chr6_31665706_31665706_T_C 74R>G Substitution 15% coding PGDX76T NDRG3 NDRG family member 3 CCDS13285.1 chr20_34728212_34728212_A_C NA Substitution Splice site 29% PGDX76T NEK9 NIMA (never in mitosis gene a)- related kinase 9 CCDS9839.1 chr14_74655395_74655395__A NA Insertion Splice site 31% PGDX76T NET1 neuroepithelial cell transforming 1 CCDS41483.1 chr10_5488209_5488209_C_T 453R>X Substitution Nonsense 35% Nonsynonymous PGDX76T NEU4 sialidase 4 CCDS2553.1 chr2_242406509_242406509_C_T 318P>L Substitution 27% coding PGDX76T NEUROD4 neurogenic differentiation 4 CCDS8886.1 chr12_53707013_53707013_C_T 175Q>X Substitution Nonsense 25% Nonsynonymous PGDX76T NEUROD6 neurogenic differentiation 6 CCDS5434.1 chr7_31345230_31345230_C_T 60E>K Substitution 27% coding Nonsynonymous PGDX76T NLGN4X neuroligin 4; X-linked CCDS14126.1 chrX_5837100_5837100_G_A 269S>L Substitution 40% coding Nonsynonymous PGDX76T NLRP14 NLR family; pyrin domain containing 14 CCDS7776.1 chr11_7021217_7021217_G_A 462D>N Substitution 29% coding Nonsynonymous PGDX76T NLRP5 NLR family; pyrin domain containing 5 NM_153447 chr19_61231488_61231488_G_A 693E>K Substitution 56% coding Nonsynonymous PGDX76T NMNAT3 nicotinamide nucleotide adenylyltransferase 3 CCDS3111.1 chr3_140780546_140780546_C_T 14D>N Substitution 32% coding Nonsynonymous PGDX76T NNAT neuronatin CCDS13296.1 chr20_35584496_35584496_C_T 56S>F Substitution 25% coding Nonsynonymous PGDX76T NOS1 nitric oxide synthase 1 (neuronal) CCDS41842.1 chr12_116175881_116175881_C_T 865D>N Substitution 26% coding Nonsynonymous PGDX76T NOTCH2NL Notch homolog 2 (Drosophila) N-terminal like CCDS909.1 chr1_143960233_143960233_A_G 7N>S Substitution 22% coding Nonsynonymous PGDX76T NOTCH2NL Notch homolog 2 (Drosophila) N-terminal like ENST00000362074 chr1_143960208_143960208_G_A 124E>K Substitution 31% coding Nonsynonymous PGDX76T NPAS3 neuronal PAS domain protein 3 CCDS9645.1 chr14_33099133_33099133_C_T 143S>F Substitution 29% coding natriuretic peptide receptor A/guanylate cyclase A PGDX76T NPR1 CCDS1051.1 chr1_151921659_151921659_G_A 411W>X Substitution Nonsense 26% (atrionatriuretic peptide receptor A) Nonsynonymous PGDX76T NPVF neuropeptide VF precursor CCDS5395.1 chr7_25232968_25232968_C_T 114R>K Substitution 43% coding Nonsynonymous PGDX76T NR1H2 nuclear receptor subfamily 1; group H; member 2 CCDS42593.1 chr19_55573647_55573647_T_G 177S>A Substitution 11% coding Nonsynonymous PGDX76T NTN4 netrin 4 CCDS9054.1 chr12_94600689_94600689_G_A 479R>C Substitution 24% coding Nonsynonymous PGDX76T NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 CCDS35278.1 chrX_51092969_51092969_G_A 138E>K Substitution 73% coding Nonsynonymous PGDX76T NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 CCDS9393.1 chr13_44415803_44415804_GG_AA 382P>F Substitution 28% coding Nonsynonymous PGDX76T NUP210L nucleoporin 210kDa-like CCDS41399.1 chr1_152356847_152356847_G_A 533P>L Substitution 34% coding nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. Nonsynonymous PGDX76T NUS1 CCDS5118.1 chr6_118122025_118122025_C_G 227A>G Substitution 15% cerevisiae) coding Nonsynonymous PGDX76T OAZ3 ornithine decarboxylase antizyme 3 ENST00000315067 chr1_150010242_150010242_C_T 165P>S Substitution 50% coding Nonsynonymous PGDX76T ODZ3 odz; odd Oz/ten-m homolog 3 (Drosophila) NM_001080477 chr4_183950469_183950469_G_A 1884D>N Substitution 25% coding Nonsynonymous PGDX76T ODZ4 odz; odd Oz/ten-m homolog 4 (Drosophila) NM_001098816 chr11_78046825_78046825_C_T 2746E>K Substitution 27% coding Nonsynonymous PGDX76T OGFR opioid growth factor receptor CCDS13504.1 chr20_60915285_60915285_C_T 625R>C Substitution 35% coding Nonsynonymous PGDX76T OIT3 oncoprotein induced transcript 3 CCDS7318.1 chr10_74343101_74343101_G_A 274E>K Substitution 30% coding Nonsynonymous PGDX76T OLFM4 olfactomedin 4 CCDS9440.1 chr13_52522759_52522759_G_A 462G>E Substitution 33% coding Nonsynonymous PGDX76T OPLAH 5-oxoprolinase (ATP-hydrolysing) ENST00000360660 chr8_145183048_145183048_C_T 696D>N Substitution 23% coding Nonsynonymous PGDX76T OR10AG1 olfactory receptor; family 10; subfamily AG; member 1 CCDS31514.1 chr11_55492146_55492146_G_A 124P>S Substitution 25% coding Nonsynonymous PGDX76T OR10G6 Olfactory receptor 10G6 ENST00000307002 chr11_123370336_123370336_C_T 248R>Q Substitution 40% coding Nonsynonymous PGDX76T OR13C4 olfactory receptor; family 13; subfamily C; member 4 CCDS35088.1 chr9_106328939_106328939_C_T 125A>T Substitution 27% coding Nonsynonymous PGDX76T OR14C36 olfactory receptor; family 14; subfamily C; member 36 CCDS31112.1 chr1_246579361_246579361_C_T 221S>L Substitution 30% coding Nonsynonymous PGDX76T OR1L4 olfactory receptor; family 1; subfamily L; member 4 CCDS35129.1 chr9_124526500_124526500_G_A 137M>I Substitution 32% coding Nonsynonymous PGDX76T OR2A1 olfactory receptor; family 2; subfamily A; member 1 NM_001005287 chr7_143560400_143560400_G_A 157A>V Substitution 22% coding Nonsynonymous PGDX76T OR2A25 olfactory receptor; family 2; subfamily A; member 25 CCDS43669.1 chr7_143402883_143402883_C_T 213T>I Substitution 23% coding Nonsynonymous PGDX76T OR2A42 olfactory receptor; family 2; subfamily A; member 42 NM_001005287 chr7_143560400_143560400_G_A 157A>V Substitution 22% coding Nonsynonymous PGDX76T OR2T3 olfactory receptor; family 2; subfamily T; member 3 CCDS31117.1 chr1_246703560_246703560_A_T 96T>S Substitution 12% coding Nonsynonymous PGDX76T OR2T34 olfactory receptor; family 2; subfamily T; member 34 CCDS31120.1 chr1_246804555_246804555_C_T 43A>T Substitution 12% coding Nonsynonymous PGDX76T OR2T6 olfactory receptor; family 2; subfamily T; member 6 CCDS31114.1 chr1_246617539_246617539_G_A 3E>K Substitution 27% coding Nonsynonymous PGDX76T OR4A15 olfactory receptor; family 4; subfamily A; member 15 CCDS31500.1 chr11_54892332_54892332_C_T 133H>Y Substitution 20% coding Nonsynonymous PGDX76T OR4C3 olfactory receptor; family 4; subfamily C; member 3 CCDS31489.1 chr11_48303343_48303343_C_T 92S>F Substitution 25% coding Nonsynonymous PGDX76T OR4C3 olfactory receptor; family 4; subfamily C; member 3 CCDS31489.1 chr11_48303610_48303610_C_T 181S>L Substitution 14% coding Nonsynonymous PGDX76T OR4L1 olfactory receptor; family 4; subfamily L; member 1 CCDS32029.1 chr14_19598366_19598366_G_A 108G>E Substitution 41% coding Nonsynonymous PGDX76T OR4Q3 olfactory receptor; family 4; subfamily Q; member 3 CCDS32020.1 chr14_19285548_19285548_G_A 41G>E Substitution 19% coding Nonsynonymous PGDX76T OR52E5 Olfactory receptor 52E5 ENST00000316698 chr11_5878619_5878619_A_C 13T>P Substitution 30% coding Nonsynonymous PGDX76T OR52N5 olfactory receptor; family 52; subfamily N; member 5 CCDS31397.1 chr11_5755486_5755486_C_T 319G>S Substitution 24% coding Nonsynonymous PGDX76T OR5A1 olfactory receptor; family 5; subfamily A; member 1 CCDS31561.1 chr11_58967591_58967591_G_A 125R>Q Substitution 29% coding Nonsynonymous PGDX76T OR5AK3P Olfactory receptor 5AK3 ENST00000326876 chr11_56495222_56495222_G_A 41G>E Substitution 26% coding PGDX76T OR5B17 olfactory receptor; family 5; subfamily B; member 17 CCDS31548.1 chr11_57883121_57883121_A_G NA Substitution UTR 26% Nonsynonymous PGDX76T OR5D13 olfactory receptor; family 5; subfamily D; member 13 CCDS31507.1 chr11_55297742_55297742_G_A 85E>K Substitution 26% coding Nonsynonymous PGDX76T OR5M3 olfactory receptor; family 5; subfamily M; member 3 CCDS31532.1 chr11_55993768_55993768_G_A 261P>L Substitution 25% coding Nonsynonymous PGDX76T OR6M1 olfactory receptor; family 6; subfamily M; member 1 CCDS31696.1 chr11_123181610_123181610_A_C 220S>A Substitution 41% coding Nonsynonymous PGDX76T OR8U1 olfactory receptor; family 8; subfamily U; member 1 CCDS41647.1 chr11_55899773_55899773_C_T 33S>F Substitution 26% coding Nonsynonymous PGDX76T OR8U8 olfactory receptor; family 8; subfamily U; member 8 CCDS41647.1 chr11_55899773_55899773_C_T 33S>F Substitution 26% coding Nonsynonymous PGDX76T OR8U9 olfactory receptor; family 8; subfamily U; member 9 CCDS41647.1 chr11_55899773_55899773_C_T 33S>F Substitution 26% coding Nonsynonymous PGDX76T OR9G4 olfactory receptor; family 9; subfamily G; member 4 CCDS31537.1 chr11_56267861_56267861_C_T 1M>I Substitution 30% coding Nonsynonymous PGDX76T OSBPL7 oxysterol binding protein-like 7 CCDS11515.1 chr17_43250674_43250675_GG_AA 186S>F Substitution 18% coding Nonsynonymous PGDX76T PAH phenylalanine hydroxylase CCDS9092.1 chr12_101762254_101762254_C_T 352G>D Substitution 19% coding Nonsynonymous PGDX76T PAH phenylalanine hydroxylase CCDS9092.1 chr12_101795395_101795396_CC_TT 139G>K Substitution 21% coding Nonsynonymous PGDX76T PAH phenylalanine hydroxylase CCDS9092.1 chr12_101773076_101773076_G_A 225P>L Substitution 23% coding Nonsynonymous PGDX76T PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 CCDS14554.1 chrX_110253105_110253105_G_A 40E>K Substitution 42% coding Nonsynonymous PGDX76T PAPPA2 pappalysin 2 CCDS41438.1 chr1_174792625_174792625_G_A 182E>K Substitution 28% coding PGDX76T PAQR6 progestin and adipoQ receptor family member VI CCDS1135.1 chr1_154480409_154480409_C_T 308R>K Substitution Nonsynonymous 27% coding

PGDX76T PARD3 par-3 partitioning defective 3 homolog (C. elegans) CCDS7178.1 chr10_34713082_34713082_G_A 333R>X Substitution Nonsense 23% Nonsynonymous PGDX76T PARD3B par-3 partitioning defective 3 homolog B (C. elegans) CCDS42806.1 chr2_206188622_206188622_G_A 1091G>E Substitution 27% coding Nonsynonymous PGDX76T PARP1 poly (ADP-ribose) polymerase 1 CCDS1554.1 chr1_224637446_224637446_G_A 358P>L Substitution 21% coding Nonsynonymous PGDX76T PARP6 poly (ADP-ribose) polymerase family; member 6 CCDS10241.2 chr15_70321326_70321326_G_A 587S>F Substitution 25% coding Nonsynonymous PGDX76T PCBP3OT. Uncharacterized protein ENST00000400302 chr21_46162816_46162816_G_A 82G>D Substitution 10% coding Nonsynonymous PGDX76T PCDH15 protocadherin-related 15 CCDS7248.1 chr10_55613272_55613272_G_A 510P>S Substitution 26% coding Nonsynonymous PGDX76T PCDH18 protocadherin 18 CCDS34064.1 chr4_138670715_138670715_C_T 660D>N Substitution 28% coding Nonsynonymous PGDX76T PCDH20 protocadherin 20 CCDS9442.1 chr13_60884552_60884552_C_T 534D>N Substitution 23% coding Nonsynonymous PGDX76T PCDHA3 protocadherin alpha 3 CCDS34248.1 chr5_140163151_140163151_G_A 729E>K Substitution 26% coding Nonsynonymous PGDX76T PCDHA9 protocadherin alpha 9 CCDS34254.1 chr5_140210510_140210510_C_T 749S>L Substitution 30% coding Nonsynonymous PGDX76T PCDHB11 protocadherin beta 11 CCDS4253.1 chr5_140559739_140559739_G_A 70D>N Substitution 33% coding Nonsynonymous PGDX76T PCDHB6 protocadherin beta 6 CCDS4248.1 chr5_140511086_140511086_C_T 355P>L Substitution 27% coding Nonsynonymous PGDX76T PCDHB8 protocadherin beta 8 CCDS4250.1 chr5_140539007_140539007_C_T 403T>I Substitution 11% coding Nonsynonymous PGDX76T PCLO protein piccolo isoform 1 NM_033026 chr7_82601863_82601863_G_C 980P>R Substitution 23% coding Nonsynonymous PGDX76T PCLO protein piccolo isoform 1 NM_033026 chr7_82383277_82383277_C_T 3987M>I Substitution 39% coding Nonsynonymous PGDX76T PCLO protein piccolo isoform 1 NM_033026 chr7_82423422_82423422_C_T 1595E>K Substitution 22% coding Nonsynonymous PGDX76T PCNXL2 pecanex-like 2 (Drosophila) NM_014801 chr1_231227628_231227628_C_T 1498E>K Substitution 32% coding Nonsynonymous PGDX76T PCYT1B phosphate cytidylyltransferase 1; choline; beta CCDS14213.1 chrX_24518117_24518117_C_T 144E>K Substitution 53% coding Nonsynonymous PGDX76T PDC phosducin CCDS1370.1 chr1_184680102_184680102_C_T 125E>K Substitution 12% coding PGDX76T PDE11A phosphodiesterase 11A CCDS33334.1 chr2_178202418_178202418__GAG NA Insertion In-frame insertion 24% Nonsynonymous PGDX76T PDE1C phosphodiesterase 1C; calmodulin-dependent 70kDa ENST00000396193 chr7_31759565_31759565_C_T 756M>I Substitution 36% coding Nonsynonymous PGDX76T PDE6C phosphodiesterase 6C; cGMP-specific; cone; alpha prime CCDS7429.1 chr10_95362696_95362696_C_T 75T>I Substitution 29% coding Nonsynonymous PGDX76T PDILT protein disulfide isomerase-like; testis expressed CCDS10584.1 chr16_20303588_20303588_C_T 97G>S Substitution 25% coding Nonsynonymous PGDX76T PDK2 pyruvate dehydrogenase kinase; isozyme 2 CCDS11559.1 chr17_45540730_45540730_C_T 271P>S Substitution 21% coding Nonsynonymous PGDX76T PDPN podoplanin CCDS30602.1 chr1_13782985_13782985_C_T 33A>V Substitution 23% coding Nonsynonymous PGDX76T PFKFB2 6-phosphofructo-2-kinase/fructose-2;6-biphosphatase 2 CCDS31004.1 chr1_205312226_205312226_C_T 469P>S Substitution 33% coding Nonsynonymous PGDX76T PGAP1 post-GPI attachment to proteins 1 CCDS2318.1 chr2_197418972_197418972_G_C 722P>R Substitution 10% coding Nonsynonymous PGDX76T PGAP3 post-GPI attachment to proteins 3 CCDS32641.1 chr17_35082973_35082973_G_C 252H>Q Substitution 31% coding Nonsynonymous PGDX76T PGLYRP2 peptidoglycan recognition protein 2 CCDS12330.2 chr19_15447858_15447858_G_A 208A>V Substitution 54% coding Nonsynonymous PGDX76T PGPEP1 pyroglutamyl-peptidase I CCDS12375.1 chr19_18329419_18329419_C_T 144A>V Substitution 60% coding PGDX76T PGPEP1L pyroglutamyl-peptidase I-like ENST00000378919 chr15_97327947_97327949_AAA_ NA Deletion Splice site 13% Nonsynonymous PGDX76T PHF21B PHD finger protein 21B CCDS14061.1 chr22_43694967_43694968_CC_TT 63G>K Substitution 19% coding Nonsynonymous PGDX76T PHRF1 PHD and RING finger domain-containing protein 1 NM_020901 chr11_572060_572060_G_A 65E>K Substitution 27% coding Nonsynonymous PGDX76T PHRF1 PHD and RING finger domain-containing protein 1 NM_020901 chr11_598560_598560_C_T 1034P>L Substitution 27% coding Nonsynonymous PGDX76T PI15 peptidase inhibitor 15 CCDS6218.1 chr8_75920281_75920281_C_T 212A>V Substitution 26% coding Nonsynonymous PGDX76T PI16 peptidase inhibitor 16 CCDS34440.1 chr6_37039267_37039267_G_A 391G>R Substitution 16% coding phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing Nonsynonymous PGDX76T PIK3C2G NM_004570 chr12_18335144_18335144_T_C 284S>P Substitution 28% subunit gamma coding Nonsynonymous PGDX76T PIK3R6 phosphoinositide-3-kinase; regulatory subunit 6 ENST00000311434 chr17_8665945_8665945_C_A 608V>F Substitution 14% coding Nonsynonymous PGDX76T PITPNA phosphatidylinositol transfer protein alpha isoform NM_006224 chr17_1385504_1385504_G_A 172P>L Substitution 23% coding Nonsynonymous PGDX76T PITRM1 presequence protease, mitochondrial isoform 2 precursor NM_014889 chr10_3191163_3191163_G_A 360P>L Substitution 29% coding Nonsynonymous PGDX76T PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) CCDS4935.1 chr6_52029694_52029694_C_T 519D>N Substitution 33% coding Nonsynonymous PGDX76T PKHD1L1 fibrocystin-L precursor NM_177531 chr8_110533530_110533530_G_A 2118E>K Substitution 21% coding Nonsynonymous PGDX76T PKIA protein kinase (cAMP-dependent; catalytic) inhibitor alpha CCDS6222.1 chr8_79673283_79673283_G_A 37E>K Substitution 29% coding Nonsynonymous PGDX76T PKN3 protein kinase N3 CCDS6908.1 chr9_130522627_130522627_C_T 864P>L Substitution 28% coding Nonsynonymous PGDX76T PKP2 plakophilin 2 CCDS8731.1 chr12_32836900_32836900_G_A 841S>F Substitution 26% coding phospholipase A2; group VII (platelet-activating factor Nonsynonymous PGDX76T PLA2G7 CCDS4917.1 chr6_46780905_46780905_T_A 378N>I Substitution 21% acetylhydrolase; plasma) coding Nonsynonymous PGDX76T PLCB1 phospholipase C; beta 1 (phosphoinositide-specific) ENST00000338061 chr20_8679499_8679499_G_A 204E>K Substitution 24% coding Nonsynonymous PGDX76T PLCB3 phospholipase C; beta 3 (phosphatidylinositol-specific) CCDS8064.1 chr11_63783236_63783236_G_A 490S>N Substitution 37% coding Nonsynonymous PGDX76T PLCB4 phospholipase C; beta 4 CCDS13104.1 chr20_9386082_9386082_G_A 994M>I Substitution 17% coding Nonsynonymous PGDX76T PLEC plectin CCDS43772.1 chr8_145063432_145063432_G_A 4319T>I Substitution 27% coding pleckstrin homology domain containing; family H (with MyTH4 Nonsynonymous PGDX76T PLEKHH2 CCDS1812.1 chr2_43844937_43844937_G_A 1409V>I Substitution 59% domain) member 2 coding Nonsynonymous PGDX76T PLEKHM3 pleckstrin homology domain containing; family M; member 3 CCDS42808.1 chr2_208574415_208574415_G_A 65S>F Substitution 34% coding PGDX76T PNPT1 polyribonucleotide nucleotidyltransferase 1 CCDS1856.1 chr2_55737014_55737014__A NA Insertion Splice site 12% Nonsynonymous PGDX76T POLDIP2 polymerase (DNA-directed); delta interacting protein 2 ENST00000003607 chr17_23708528_23708528_G_C 25R>G Substitution 24% coding Nonsynonymous PGDX76T POLE polymerase (DNA directed); epsilon CCDS9278.1 chr12_131748234_131748234_G_A 939A>V Substitution 26% coding Nonsynonymous PGDX76T POLR3A polymerase (RNA) III (DNA directed) polypeptide A; 155kDa CCDS7354.1 chr10_79413746_79413746_G_A 1123P>S Substitution 31% coding protein O-linked mannose beta1;2-N- Nonsynonymous PGDX76T POMGNT1 CCDS531.1 chr1_46427557_46427557_C_T 652G>E Substitution 26% acetylglucosaminyltransferase coding Nonsynonymous PGDX76T POMT2 protein-O-mannosyltransferase 2 CCDS9857.1 chr14_76842498_76842498_C_T 125G>S Substitution 18% coding Nonsynonymous PGDX76T POSTN periostin; osteoblast specific factor CCDS9364.1 chr13_37064253_37064253_C_T 89M>I Substitution 25% coding Nonsynonymous PGDX76T POU3F3 POU class 3 homeobox 3 CCDS33265.1 chr2_104839676_104839676_C_A 426L>I Substitution 28% coding peroxisome proliferator-activated receptor gamma; coactivator 1 Nonsynonymous PGDX76T PPARGC1A CCDS3429.1 chr4_23424588_23424588_G_A 539S>F Substitution 29% alpha coding Nonsynonymous PGDX76T PPP3R2 protein phosphatase 3; regulatory subunit B; beta CCDS6759.1 chr9_103396832_103396832_C_T 68D>N Substitution 31% coding Nonsynonymous PGDX76T PPP3R2 protein phosphatase 3; regulatory subunit B; beta CCDS6759.1 chr9_103396868_103396868_G_A 56P>S Substitution 26% coding Nonsynonymous PGDX76T PPP4R4 protein phosphatase 4; regulatory subunit 4 CCDS9921.1 chr14_93786314_93786314_G_A 555R>H Substitution 21% coding Nonsynonymous PGDX76T PRAM1 PML-RARA-regulated adapter molecule 1 NM_032152 chr19_8470178_8470178_C_T 172E>K Substitution 65% coding phosphatidylinositol-3;4;5-trisphosphate-dependent Rac Nonsynonymous PGDX76T PREX1 CCDS13410.1 chr20_46710000_46710000_T_C 582E>G Substitution 21% exchange factor 1 coding phosphatidylinositol-3;4;5-trisphosphate-dependent Rac Nonsynonymous PGDX76T PREX2 CCDS6201.1 chr8_69193353_69193353_A_T 1114N>I Substitution 29% exchange factor 2 coding Nonsynonymous PGDX76T PRIC285 Peroxisomal proliferator-activated receptor A-interacting complex CCDS33508.1 chr20_61667350_61667351_CC_TT 1090G>K Substitution 23% coding Nonsynonymous PGDX76T PRKCB protein kinase C; beta CCDS10619.1 chr16_24133609_24133609_G_A 665E>K Substitution 25% coding Nonsynonymous PGDX76T PRKCZ protein kinase C; zeta CCDS37.1 chr1_2095210_2095210_T_C 434W>R Substitution 24% coding Nonsynonymous PGDX76T PRKG2 protein kinase; cGMP-dependent; type II CCDS3589.1 chr4_82311980_82311980_C_T 211G>S Substitution 23% coding Nonsynonymous PGDX76T PROM2 prominin 2 CCDS2012.1 chr2_95306964_95306964_G_A 300E>K Substitution 28% coding PGDX76T PRSS38 protease; serine; 38 CCDS1563.1 chr1_226100346_226100346_G_A 265W>X Substitution Nonsense 14% PGDX76T PRSS50 protease; serine; 50 CCDS2745.1 chr3_46729535_46729535_G_A 261Q>X Substitution Nonsense 25% Nonsynonymous PGDX76T PRUNE2 protein prune homolog 2 NM_015225 chr9_78515392_78515392_C_T 540D>N Substitution 34% coding Nonsynonymous PGDX76T PSD pleckstrin and Sec7 domain containing CCDS31272.1 chr10_104153719_104153719_C_T 905R>Q Substitution 42% coding Nonsynonymous PGDX76T PSG3 pregnancy specific beta-1-glycoprotein 3 CCDS12611.1 chr19_47919994_47919994_G_A 423P>S Substitution 46% coding Nonsynonymous PGDX76T PTBP2 polypyrimidine tract binding protein 2 CCDS754.1 chr1_97051038_97051038_C_T 452P>S Substitution 26% coding Nonsynonymous PGDX76T PTCHD2 patched domain containing 2 CCDS41247.1 chr1_11518181_11518181_G_A 1237E>K Substitution 29% coding PGDX76T PTK2B PTK2B protein tyrosine kinase 2 beta CCDS6057.1 chr8_27347523_27347523_C_T NA Substitution Splice site 25% Nonsynonymous PGDX76T PTPN13 tyrosine-protein phosphatase non-receptor type 13 isoform 4 NM_080685 chr4_87890773_87890773_C_T 926S>L Substitution 30% coding Nonsynonymous PGDX76T PTPN3 protein tyrosine phosphatase; non-receptor type 3 CCDS6776.1 chr9_111208592_111208592_C_T 588R>Q Substitution 27% coding Nonsynonymous PGDX76T PTPRC protein tyrosine phosphatase; receptor type; C CCDS1397.1 chr1_196948791_196948791_C_T 418H>Y Substitution 25% coding Nonsynonymous PGDX76T PTPRN2 protein tyrosine phosphatase; receptor type; N polypeptide 2 CCDS5947.1 chr7_157619440_157619440_G_A 416P>S Substitution 22% coding Nonsynonymous PGDX76T PXDNL peroxidasin-like protein precursor NM_144651 chr8_52522164_52522164_G_A 493S>L Substitution 29% coding Nonsynonymous PGDX76T PYGM phosphorylase; glycogen; muscle CCDS8079.1 chr11_64278308_64278308_C_A 362W>L Substitution 27% coding PGDX76T RAB2A RAB2A; member RAS oncogene family CCDS6175.1 chr8_61695799_61695799_A_ NA Deletion Frameshift 25% Nonsynonymous PGDX76T RAB44 Ras-related protein Rab-44 ENST00000229824 chr6_36801649_36801649_G_A 66D>N Substitution 19% coding PGDX76T RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 CCDS1325.1 chr1_177127985_177127985_C_T NA Substitution Splice site 31% Nonsynonymous PGDX76T RAP1GAP2 rap1 GTPase-activating protein 2 isoform 1 NM_015085 chr17_2845473_2845473_C_T 336S>F Substitution 24% coding Nonsynonymous PGDX76T RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 CCDS34225.1 chr5_130825597_130825597_G_A 855S>F Substitution 26% coding Nonsynonymous PGDX76T RASAL1 RAS protein activator like 1 (GAP1 like) CCDS9165.1 chr12_112038195_112038195_T_C 259D>G Substitution 33% coding Nonsynonymous PGDX76T RASEF RAS and EF-hand domain containing CCDS6662.1 chr9_84803146_84803146_C_T 587G>R Substitution 26% coding Nonsynonymous PGDX76T RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 CCDS4052.1 chr5_80399737_80399737_G_A 176E>K Substitution 30% coding Nonsynonymous PGDX76T RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated) ENST00000394430 chr11_64264984_64264984_C_T 128G>E Substitution 25% coding Nonsynonymous PGDX76T RBBP7 retinoblastoma binding protein 7 CCDS14179.1 chrX_16780833_16780833_G_A 282P>L Substitution 48% coding Nonsynonymous PGDX76T RBMS3 RNA binding motif; single stranded interacting protein 3 CCDS33724.1 chr3_29952611_29952611_C_T 324P>S Substitution 23% coding Nonsynonymous PGDX76T RBMS3 RNA binding motif; single stranded interacting protein 3 CCDS33724.1 chr3_29779409_29779409_G_A 188E>K Substitution 29% coding Nonsynonymous PGDX76T RCC1 regulator of chromosome condensation 1 CCDS41295.1 chr1_28728997_28728997_C_T 11S>F Substitution 29% coding Nonsynonymous PGDX76T RCVRN recoverin CCDS11151.1 chr17_9748999_9748999_G_A 75S>F Substitution 25% coding Nonsynonymous PGDX76T RERE arginine-glutamic acid dipeptide (RE) repeats CCDS95.1 chr1_8342828_8342828_G_A 1109P>L Substitution 20% coding Nonsynonymous PGDX76T RFX1 regulatory factor X; 1 (influences HLA class II expression) CCDS12301.1 chr19_13955054_13955054_G_A 153A>V Substitution 54% coding Nonsynonymous PGDX76T RFX7 DNA-binding protein RFX7 NM_022841 chr15_54180924_54180924_G_A 246R>C Substitution 32% coding Nonsynonymous PGDX76T RGS7 regulator of G-protein signaling 7 CCDS31071.1 chr1_239041937_239041937_C_T 329R>Q Substitution 32% coding Nonsynonymous PGDX76T RGS7 regulator of G-protein signaling 7 CCDS31071.1 chr1_239166567_239166567_G_A 97H>Y Substitution 34% coding PGDX76T RGS9 regulator of G-protein signaling 9 CCDS42373.1 chr17_60587168_60587168_G_A NA Substitution Splice site 25% Nonsynonymous PGDX76T RGSL1 regulator of G-protein signaling protein-like NM_001137669 chr1_180784522_180784522_G_A 958R>Q Substitution 38% coding Nonsynonymous PGDX76T RIC8B resistance to inhibitors of cholinesterase 8 homolog B CCDS9109.2 chr12_105769478_105769478_C_T 428L>F Substitution 31% coding Nonsynonymous PGDX76T RIMBP2 RIMS binding protein 2 CCDS31925.1 chr12_129495759_129495759_G_A 180P>L Substitution 26% coding Nonsynonymous PGDX76T RNF144A ring finger protein 144A CCDS1657.1 chr2_7087775_7087775_C_T 242S>F Substitution 25% coding PGDX76T RNF146 ring finger protein 146 CCDS5136.1 chr6_127650534_127650534_A_C NA Substitution UTR 56% Nonsynonymous PGDX76T RNF217 ring finger protein 217 CCDS5129.1 chr6_125439658_125439658_C_T 188P>S Substitution 55% coding Nonsynonymous PGDX76T RNMT RNA (guanine-7-) methyltransferase CCDS11867.1 chr18_13721748_13721748_C_T 78P>S Substitution 28% coding Nonsynonymous PGDX76T RPL3L ribosomal protein L3-like CCDS10450.1 chr16_1936707_1936707_G_A 291P>S Substitution 28% coding Nonsynonymous PGDX76T RPTN repetin CCDS41397.1 chr1_150395249_150395249_G_A 317S>F Substitution 22% coding Nonsynonymous PGDX76T RSHL1 Radial spokehead-like protein 1 CCDS12675.1 chr19_50999570_50999570_G_A 478A>V Substitution 63% coding PGDX76T RUVBL1 RuvB-like 1 (E. coli) CCDS3047.1 chr3_129299023_129299023_G_A 276R>X Substitution Nonsense 24% Nonsynonymous PGDX76T RYR3 ryanodine receptor 3 isoform 1 NM_001036 chr15_31853075_31853075_C_T 3035S>F Substitution 39% coding Nonsynonymous PGDX76T SALL3 sal-like 3 (Drosophila) CCDS12013.1 chr18_74855956_74855956_G_A 993E>K Substitution 21% coding Nonsynonymous PGDX76T SAMD7 sterile alpha motif domain containing 7 CCDS3209.1 chr3_171127556_171127556_A_G 271K>R Substitution 29% coding PGDX76T SAMD9L sterile alpha motif domain containing 9-like CCDS34681.1 chr7_92601736_92601736_C_T 495W>X Substitution Nonsense 18% Nonsynonymous PGDX76T SAMD9L sterile alpha motif domain containing 9-like CCDS34681.1 chr7_92602968_92602968_G_A 85H>Y Substitution 18% coding PGDX76T SCN10A sodium channel; voltage-gated; type X; alpha subunit CCDS33736.1 chr3_38718595_38718595_G_A 1466Q>X Substitution Nonsense 22% PGDX76T SCN10A sodium channel; voltage-gated; type X; alpha subunit CCDS33736.1 chr3_38787806_38787806_C_T 189W>X Substitution Nonsense 31% Nonsynonymous PGDX76T SCN1A sodium channel; voltage-gated; type I; alpha subunit CCDS33316.1 chr2_166557170_166557170_G_A 1610L>F Substitution 32% coding Nonsynonymous PGDX76T SCN5A sodium channel protein type 5 subunit alpha isoform a NM_198056 chr3_38620292_38620292_G_A 602S>L Substitution 28% coding Nonsynonymous PGDX76T SCN7A sodium channel; voltage-gated; type VII; alpha NM_002976 chr2_167008403_167008403_C_T 552M>I Substitution 39% coding Nonsynonymous PGDX76T SCN9A sodium channel; voltage-gated; type IX; alpha subunit NM_002977 chr2_166792466_166792467_CC_TT 1396G>K Substitution 13% coding Nonsynonymous PGDX76T SDK1 sidekick homolog 1; cell adhesion molecule (chicken) CCDS34590.1 chr7_4248065_4248065_G_A 2082G>E Substitution 19% coding Nonsynonymous PGDX76T SDK2 protein sidekick-2 NM_001144952 chr17_68860221_68860221_G_A 1915S>F Substitution 28% coding Nonsynonymous PGDX76T SDPR serum deprivation response CCDS2313.1 chr2_192409589_192409589_C_T 195E>K Substitution 29% coding Nonsynonymous PGDX76T SDR9C7 short chain dehydrogenase/reductase family 9C; member 7 CCDS8926.1 chr12_55603978_55603978_G_A 283A>V Substitution 27% coding Nonsynonymous PGDX76T SEC24B SEC24 family; member B (S. cerevisiae) CCDS43260.1 chr4_110635456_110635456_C_T 460P>S Substitution 29% coding Nonsynonymous PGDX76T SEMG2 semenogelin II CCDS13346.1 chr20_43284859_43284859_G_A 391R>K Substitution 22% coding PGDX76T SEPP1 selenoprotein P isoform 2 NM_001093726 chr5_42836797_42836797_C_T 340E>K Substitution Nonsynonymous 23% coding Nonsynonymous PGDX76T SERPINB2 serpin peptidase inhibitor; clade B (ovalbumin); member 2 CCDS11989.1 chr18_59720750_59720750_G_A 271E>K Substitution 30% coding PGDX76T SFRS13A splicing factor; arginine/serine-rich 13A ENST00000374452 chr1_24167037_24167037__A NA Insertion Splice site 17% Nonsynonymous PGDX76T SFTPD surfactant protein D CCDS7362.1 chr10_81692550_81692550_C_T 89D>N Substitution 26% coding Nonsynonymous PGDX76T SH2D4B SH2 domain containing 4B ENST00000313455 chr10_82392776_82392776_C_T 11P>L Substitution 21% coding Nonsynonymous PGDX76T SH3BP4 SH3-domain binding protein 4 CCDS2513.1 chr2_235615973_235615973_G_T 607Q>H Substitution 22% coding Nonsynonymous PGDX76T SH3GL2 SH3-domain GRB2-like 2 CCDS6483.1 chr9_17737097_17737097_A_T 27T>S Substitution 21% coding Nonsynonymous PGDX76T SHANK1 SH3 and multiple ankyrin repeat domains 1 CCDS12799.1 chr19_55857378_55857378_C_T 2048D>N Substitution 63% coding Nonsynonymous PGDX76T SHCBP1 SHC SH2-domain binding protein 1 CCDS10720.1 chr16_45209647_45209647_C_T 81R>Q Substitution 40% coding Nonsynonymous PGDX76T SI sucrase-isomaltase (alpha-glucosidase) CCDS3196.1 chr3_166220193_166220193_C_T 1105R>H Substitution 19% coding solute carrier family 10 (sodium/bile acid cotransporter family); Nonsynonymous PGDX76T SLC10A1 CCDS9797.1 chr14_69333343_69333343_C_T 95V>I Substitution 31% member 1 coding solute carrier family 12 (potassium/chloride transporter); member Nonsynonymous PGDX76T SLC12A5 CCDS13391.1 chr20_44118474_44118474_G_A 992E>K Substitution 30% 5 coding solute carrier family 12 (potassium/chloride transporters); PGDX76T SLC12A8 CCDS43143.1 chr3_126320341_126320341_G_A 292R>X Substitution Nonsense 24% member 8 Nonsynonymous PGDX76T SLC15A2 solute carrier family 15 (H+/peptide transporter); member 2 CCDS3007.1 chr3_123124766_123124766_G_A 322R>Q Substitution 24% coding Nonsynonymous PGDX76T SLC22A10 solute carrier family 22; member 10 CCDS41661.1 chr11_62821359_62821359_G_A 172R>Q Substitution 22% coding Nonsynonymous PGDX76T SLC22A15 solute carrier family 22; member 15 NM_018420 chr1_116363808_116363808_C_T 128S>F Substitution 29% coding Nonsynonymous PGDX76T SLC24A3 solute carrier family 24; member 3 CCDS13140.1 chr20_19513664_19513664_G_A 158G>E Substitution 31% coding Nonsynonymous PGDX76T SLC24A3 solute carrier family 24; member 3 CCDS13140.1 chr20_19613951_19613951_G_A 424E>K Substitution 27% coding Nonsynonymous PGDX76T SLC25A13 solute carrier family 25; member 13 (citrin) CCDS5645.1 chr7_95588572_95588572_G_A 632P>L Substitution 44% coding Nonsynonymous PGDX76T SLC25A36 solute carrier family 25; member 36 CCDS3114.1 chr3_142161066_142161066_C_T 93P>L Substitution 33% coding Nonsynonymous PGDX76T SLC25A45 solute carrier family 25; member 45 ENST00000332723 chr11_64900283_64900283_T_C 322K>E Substitution 12% coding Nonsynonymous PGDX76T SLC38A3 sodium-coupled neutral amino acid transporter 3 NM_006841 chr3_50227991_50227991_T_A 129Y>N Substitution 29% coding PGDX76T SLC39A1 solute carrier family 39 (zinc transporter); member 1 CCDS1055.1 chr1_152199851_152199851_G_A 108Q>X Substitution Nonsense 40% Nonsynonymous PGDX76T SLC5A8 solute carrier family 5 (iodide transporter); member 8 CCDS9080.1 chr12_100113065_100113065_C_T 159G>E Substitution 26% coding solute carrier family 6 (neurotransmitter transporter; GABA); Nonsynonymous PGDX76T SLC6A11 CCDS2602.1 chr3_10860948_10860948_C_T 225R>C Substitution 27% member 11 coding Nonsynonymous PGDX76T SLC8A1 solute carrier family 8 (sodium/calcium exchanger); member 1 CCDS1806.1 chr2_40509505_40509505_C_T 474E>K Substitution 32% coding Nonsynonymous PGDX76T SLFN12 schlafen family member 12 CCDS11295.1 chr17_30762561_30762561_G_A 549S>F Substitution 24% coding Nonsynonymous PGDX76T SLIT2 slit homolog 2 (Drosophila) CCDS3426.1 chr4_20178297_20178297_G_A 970G>E Substitution 27% coding Nonsynonymous PGDX76T SLITRK1 SLIT and NTRK-like family; member 1 CCDS9464.1 chr13_83351926_83351926_G_A 573S>F Substitution 28% coding Nonsynonymous PGDX76T SMC3 structural maintenance of chromosomes 3 CCDS31285.1 chr10_112339401_112339401_G_C 452D>H Substitution 15% coding Nonsynonymous PGDX76T SMC5 structural maintenance of chromosomes 5 CCDS6632.1 chr9_72119515_72119515_T_C 539I>T Substitution 23% coding Nonsynonymous PGDX76T SMR3A submaxillary gland androgen regulated protein 3A CCDS34000.1 chr4_71267148_71267148_G_A 85G>S Substitution 26% coding Nonsynonymous PGDX76T SNAPC1 small nuclear RNA activating complex; polypeptide 1; 43kDa CCDS9755.1 chr14_61314547_61314547_C_T 233P>L Substitution 42% coding Nonsynonymous PGDX76T SORBS2 sorbin and SH3 domain containing 2 CCDS3845.1 chr4_186781203_186781203_G_A 788H>Y Substitution 34% coding Nonsynonymous PGDX76T SORL1 sortilin-related receptor; L(DLR class) A repeats-containing CCDS8436.1 chr11_120934746_120934746_C_T 967A>V Substitution 38% coding Nonsynonymous PGDX76T SP140L nuclear body protein SP140-like protein NM_138402 chr2_230930850_230930850_C_T 65S>L Substitution 28% coding sperm adhesion molecule 1 (PH-20 hyaluronidase; zona pellucida Nonsynonymous PGDX76T SPAM1 CCDS5790.1 chr7_123380951_123380951_C_T 31P>S Substitution 22% binding) coding Nonsynonymous PGDX76T SPARCL1 SPARC-like 1 (hevin) CCDS3622.1 chr4_88634024_88634024_C_T 318E>K Substitution 23% coding Nonsynonymous PGDX76T SPATC1 spermatogenesis and centriole associated 1 CCDS6413.1 chr8_145167949_145167950_GG_AA 329R>Q Substitution 29% coding Nonsynonymous PGDX76T SPEG SPEG complex locus CCDS42824.1 chr2_220065579_220065579_G_T 3211D>Y Substitution 20% coding Nonsynonymous PGDX76T SPEN spen homolog; transcriptional regulator (Drosophila) CCDS164.1 chr1_16133714_16133714_G_A 2798A>T Substitution 22% coding Nonsynonymous PGDX76T SPTA1 spectrin; alpha; erythrocytic 1 (elliptocytosis 2) CCDS41423.1 chr1_156897737_156897737_C_T 851E>K Substitution 36% coding Nonsynonymous PGDX76T SPTB spectrin; beta; erythrocytic CCDS32099.1 chr14_64322271_64322271_C_T 1238G>E Substitution 31% coding Nonsynonymous PGDX76T SPTLC3 serine palmitoyltransferase; long chain base subunit 3 CCDS13115.2 chr20_13022200_13022200_A_G 268T>A Substitution 31% coding Nonsynonymous PGDX76T SRL sarcalumenin CCDS42113.1 chr16_4182327_4182327_G_A 417S>F Substitution 23% coding Nonsynonymous PGDX76T SRRM3 serine/arginine repetitive matrix 3 ENST00000326382 chr7_75752870_75752870_G_C 579A>P Substitution 10% coding Nonsynonymous PGDX76T SRRM4 serine/arginine repetitive matrix protein 4 NM_194286 chr12_118076558_118076558_C_G 507R>G Substitution 26% coding Nonsynonymous PGDX76T STAB1 stabilin 1 CCDS33768.1 chr3_52518326_52518326_G_A 766A>T Substitution 25% coding Nonsynonymous PGDX76T STAB2 stabilin 2 CCDS31888.1 chr12_102578613_102578613_C_T 604S>F Substitution 26% coding Nonsynonymous PGDX76T STAB2 stabilin 2 CCDS31888.1 chr12_102613495_102613495_C_T 1138P>L Substitution 23% coding PGDX76T STAC2 SH3 and cysteine rich domain 2 CCDS11335.1 chr17_34624011_34624011_C_T NA Substitution Splice site 26% Nonsynonymous PGDX76T STK31 serine/threonine kinase 31 CCDS5386.1 chr7_23789791_23789791_G_A 711G>E Substitution 44% coding Nonsynonymous PGDX76T STON2 stonin 2 CCDS9875.1 chr14_80813412_80813412_G_A 666P>S Substitution 31% coding PGDX76T STON2 stonin 2 CCDS9875.1 chr14_80813348_80813348_G_A 687P>L Substitution Nonsynonymous 26% coding Nonsynonymous PGDX76T STRA8 stimulated by retinoic acid gene 8 homolog (mouse) CCDS5839.1 chr7_134581833_134581833_G_A 191E>K Substitution 50% coding Nonsynonymous PGDX76T SULT1C2 sulfotransferase family; cytosolic; 1C; member 2 CCDS2076.1 chr2_108291350_108291350_T_C 308X>R Substitution 25% coding Nonsynonymous PGDX76T SURF6 surfeit 6 CCDS6962.1 chr9_135188642_135188642_G_A 324R>W Substitution 42% coding Nonsynonymous PGDX76T SUSD4 sushi domain containing 4 CCDS41471.1 chr1_221504670_221504670_C_T 217D>N Substitution 34% coding Nonsynonymous PGDX76T SV2A synaptic vesicle glycoprotein 2A CCDS940.1 chr1_148148062_148148062_C_T 365G>E Substitution 15% coding Nonsynonymous PGDX76T SV2C synaptic vesicle glycoprotein 2C CCDS43331.1 chr5_75526544_75526544_G_A 209G>R Substitution 25% coding sushi, von Willebrand factor type A, EGF and pentraxin domain- Nonsynonymous PGDX76T SVEP1 NM_153366 chr9_112305177_112305177_C_T 482G>E Substitution 27% containing protein 1 coding Nonsynonymous PGDX76T SYN2 synapsin II ENST00000341648 chr3_12183742_12183742_C_T 261S>L Substitution 29% coding Nonsynonymous PGDX76T SYNPO2L synaptopodin 2-like NM_001114133 chr10_75085647_75085647_C_T 14G>R Substitution 31% coding Nonsynonymous PGDX76T SYT1 synaptotagmin I CCDS9017.1 chr12_78203813_78203813_G_T 94K>N Substitution 19% coding Nonsynonymous PGDX76T SYT10 synaptotagmin X CCDS8732.1 chr12_33483705_33483705_T_C 7D>G Substitution 24% coding Nonsynonymous PGDX76T SYT17 synaptotagmin XVII CCDS10575.1 chr16_19141961_19141961_C_T 349L>F Substitution 26% coding Nonsynonymous PGDX76T SYT7 synaptotagmin VII CCDS31577.1 chr11_61052068_61052068_G_A 173P>S Substitution 27% coding Nonsynonymous PGDX76T TACC2 transforming; acidic coiled-coil containing protein 2 CCDS7626.1 chr10_123836614_123836614_G_A 1537A>T Substitution 38% coding Nonsynonymous PGDX76T TAP2 Antigen peptide transporter 2 CCDS4755.1 chr6_32913377_32913377_G_A 175R>C Substitution 19% coding Nonsynonymous PGDX76T TATDN2 TatD DNase domain containing 2 CCDS33698.1 chr3_10286933_10286933_C_T 356A>V Substitution 26% coding Nonsynonymous PGDX76T TBC1D2B TBC1 domain family; member 2B CCDS32301.1 chr15_76077690_76077690_C_T 777D>N Substitution 10% coding Nonsynonymous PGDX76T TBX15 T-box 15 CCDS30816.1 chr1_119229270_119229270_G_A 367P>S Substitution 23% coding Nonsynonymous PGDX76T TCF23 transcription factor 23 ENST00000407815 chr2_27226118_27226118_C_T 87S>F Substitution 24% coding Nonsynonymous PGDX76T TDRD6 tudor domain containing 6 CCDS34470.1 chr6_46767329_46767329_G_A 1169E>K Substitution 20% coding Nonsynonymous PGDX76T TEKT5 tektin 5 CCDS10542.1 chr16_10696219_10696219_C_T 5G>R Substitution 29% coding Nonsynonymous PGDX76T TENC1 tensin like C1 domain containing phosphatase (tensin 2) CCDS8842.1 chr12_51734065_51734065_G_A 127R>K Substitution 29% coding PGDX76T TEX11 testis expressed 11 CCDS35323.1 chrX_69747102_69747102_G_A 605R>X Substitution Nonsense 43% Nonsynonymous PGDX76T TEX15 testis expressed 15 CCDS6080.1 chr8_30819353_30819353_C_T 2241M>I Substitution 26% coding Nonsynonymous PGDX76T TEX15 testis expressed 15 CCDS6080.1 chr8_30825457_30825457_T_C 207K>E Substitution 30% coding Nonsynonymous PGDX76T TF transferrin CCDS3080.1 chr3_134959363_134959363_G_A 311D>N Substitution 22% coding Nonsynonymous PGDX76T TGM4 transglutaminase 4 (prostate) CCDS2723.1 chr3_44907177_44907177_C_T 127L>F Substitution 29% coding Nonsynonymous PGDX76T THRA thyroid hormone receptor; alpha CCDS11360.1 chr17_35496499_35496499_G_T 197G>V Substitution 27% coding Nonsynonymous PGDX76T THSD7B thrombospondin; type I; domain containing 7B ENST00000272643 chr2_138046507_138046507_G_A 1115E>K Substitution 27% coding PGDX76T THSD7B thrombospondin type-1 domain-containing protein 7B NM_001080427 chr2_137464931_137464931_G_A NA Substitution UTR 32% Nonsynonymous PGDX76T TJP3 tight junction protein 3 (zona occludens 3) CCDS32873.1 chr19_3682987_3682987_G_A 242G>D Substitution 51% coding Nonsynonymous PGDX76T TLR4 toll-like receptor 4 CCDS6818.1 chr9_119510668_119510668_C_T 34P>S Substitution 29% coding Nonsynonymous PGDX76T TM9SF4 transmembrane 9 superfamily protein member 4 CCDS13196.1 chr20_30196861_30196861_C_T 269S>F Substitution 30% coding Nonsynonymous PGDX76T TMEM131 transmembrane protein 131 NM_015348 chr2_97842279_97842279_G_A 135P>S Substitution 21% coding Nonsynonymous PGDX76T TMEM132D transmembrane protein 132D CCDS9266.1 chr12_128124534_128124534_A_T 1047F>I Substitution 20% coding Nonsynonymous PGDX76T TMEM149 transmembrane protein 149 CCDS12472.1 chr19_40923162_40923162_G_A 101P>S Substitution 52% coding Nonsynonymous PGDX76T TMEM151B transmembrane protein 151B NM_001137560 chr6_44351342_44351342_G_A 267M>I Substitution 23% coding Nonsynonymous PGDX76T TMEM200A transmembrane protein 200A CCDS5140.1 chr6_130804086_130804086_G_A 276E>K Substitution 51% coding Nonsynonymous PGDX76T TMEM216 transmembrane protein 216 isoform 1 NM_016499 chr11_60922309_60922309_T_G 83S>R Substitution 10% coding PGDX76T TMPRSS11B transmembrane protease; serine 11B CCDS3521.1 chr4_68777057_68777057_G_A 363Q>X Substitution Nonsense 22% PGDX76T TMPRSS11E transmembrane protease; serine 11E CCDS33993.1 chr4_69025942_69025942_G_A NA Substitution Splice site 52% Nonsynonymous PGDX76T TMPRSS12 transmembrane (C-terminal) protease; serine 12 ENST00000398458 chr12_49565484_49565484_G_A 281G>R Substitution 25% coding Nonsynonymous PGDX76T TMPRSS15 transmembrane protease; serine 15 CCDS13571.1 chr21_18573247_18573247_T_A 890D>V Substitution 13% coding tumor necrosis factor receptor superfamily; member 10c; decoy Nonsynonymous PGDX76T TNFRSF10C CCDS6037.1 chr8_23030238_23030238_C_T 177P>S Substitution 24% without an intracellular domain coding Nonsynonymous PGDX76T TNFRSF13B Tumor necrosis factor receptor superfamily member 13B CCDS11181.1 chr17_16792779_16792779_G_A 148P>L Substitution 30% coding Nonsynonymous PGDX76T TNFRSF4 tumor necrosis factor receptor superfamily; member 4 ENST00000379234 chr1_1138704_1138704_G_A 13R>W Substitution 21% coding Nonsynonymous PGDX76T TNN tenascin N CCDS30943.1 chr1_173313418_173313418_G_A 81E>K Substitution 42% coding Nonsynonymous PGDX76T TNNT3 troponin T type 3 (skeletal; fast) CCDS7727.1 chr11_1912223_1912223_G_A 151G>E Substitution 19% coding Nonsynonymous PGDX76T TNR tenascin R (restrictin; janusin) CCDS1318.1 chr1_173629559_173629559_C_T 446E>K Substitution 35% coding Nonsynonymous PGDX76T TNR tenascin R (restrictin; janusin) CCDS1318.1 chr1_173638976_173638976_G_A 300A>V Substitution 28% coding Nonsynonymous PGDX76T TNXB tenascin-X isoform 1 precursor NM_019105 chr6_32160219_32160219_C_T 1132G>R Substitution 14% coding Nonsynonymous PGDX76T TNXB tenascin-X isoform 1 precursor NM_019105 chr6_32160219_32160219_C_T 1132G>R Substitution 14% coding Nonsynonymous PGDX76T TNXB tenascin-X isoform 1 precursor NM_019105 chr6_32160219_32160219_C_T 1132G>R Substitution 14% coding Nonsynonymous PGDX76T TOX2 TOX high mobility group box family member 2 CCDS13324.1 chr20_42126864_42126864_G_A 263E>K Substitution 26% coding PGDX76T TP63 tumor protein p63 CCDS3293.1 chr3_191094722_191094722_C_T 594R>X Substitution Nonsense 26% Nonsynonymous PGDX76T TP63 tumor protein p63 CCDS3293.1 chr3_191067260_191067260_G_A 288V>I Substitution 29% coding Nonsynonymous PGDX76T TPO thyroid peroxidase CCDS1643.1 chr2_1436488_1436488_G_C 166W>C Substitution 54% coding Nonsynonymous PGDX76T TRAF6 TNF receptor-associated factor 6 CCDS7901.1 chr11_36468310_36468310_G_A 408S>F Substitution 22% coding Nonsynonymous PGDX76T TRANK1 TPR and ankyrin repeat-containing protein 1 NM_014831 chr3_36872262_36872262_C_T 1275V>M Substitution 22% coding Nonsynonymous PGDX76T TRAV38-1 T-cell receptor alpha V gene segment ENST00000390464 chr14_21810031_21810031_C_T 32S>F Substitution 27% coding Nonsynonymous PGDX76T TRAV8-7 T-cell receptor alpha V gene segment ENST00000390456 chr14_21670637_21670637_C_T 49P>S Substitution 29% coding Nonsynonymous PGDX76T TRGV9 T cell receptor gamma variable 9 ENST00000390342 chr7_38323286_38323286_C_T 75D>N Substitution 25% coding Nonsynonymous PGDX76T TRIM32 tripartite motif-containing 32 CCDS6817.1 chr9_118501460_118501460_C_T 540R>W Substitution 27% coding transient receptor potential cation channel; subfamily M; member Nonsynonymous PGDX76T TRPM2 CCDS13710.1 chr21_44662314_44662314_C_T 1075H>Y Substitution 34% 2 coding transient receptor potential cation channel; subfamily M; member Nonsynonymous PGDX76T TRPM2 CCDS13710.1 chr21_44622064_44622064_G_A 332G>S Substitution 27% 2 coding Nonsynonymous PGDX76T TTC18 tetratricopeptide repeat domain 18 CCDS7324.1 chr10_74728811_74728811_C_T 528E>K Substitution 38% coding Nonsynonymous PGDX76T TTC31 tetratricopeptide repeat domain 31 CCDS42701.1 chr2_74572983_74572983_C_T 355P>L Substitution 61% coding Nonsynonymous PGDX76T TTK TTK protein kinase CCDS4993.1 chr6_80779737_80779737_C_G 307R>G Substitution 37% coding Nonsynonymous PGDX76T TTLL2 tubulin tyrosine ligase-like family; member 2 CCDS5301.1 chr6_167674727_167674727_C_A 450P>H Substitution 47% coding Nonsynonymous PGDX76T TTN titin NM_133379 chr2_179322879_179322879_G_A 4165P>S Substitution 29% coding Nonsynonymous PGDX76T TTN titin ENST00000375038 chr2_179163131_179163131_C_T 16504V>M Substitution 26% coding Nonsynonymous PGDX76T TUBGCP6 tubulin; gamma complex associated protein 6 CCDS14087.1 chr22_49005136_49005136_C_G 666E>Q Substitution 35% coding Nonsynonymous PGDX76T UCKL1 uridine-cytidine kinase 1-like 1 CCDS13547.1 chr20_62047987_62047987_C_A 128V>F Substitution 14% coding PGDX76T UCMA upper zone of growth plate and cartilage matrix associated CCDS31147.1 chr10_13304107_13304107_G_A NA Substitution UTR 21% Nonsynonymous PGDX76T UGT2A1 UDP glucuronosyltransferase 2 family; polypeptide A1 CCDS3529.1 chr4_70499671_70499671_C_T 249G>E Substitution 27% coding Nonsynonymous PGDX76T UNC13A protein unc-13 homolog A NM_001080421 chr19_17607954_17607954_C_T 1120E>K Substitution 55% coding Nonsynonymous PGDX76T UPP2 uridine phosphorylase 2 CCDS2207.1 chr2_158686364_158686364_G_A 218D>N Substitution 32% coding Nonsynonymous PGDX76T UROC1 urocanase domain containing 1 CCDS3038.1 chr3_127690830_127690830_C_T 563D>N Substitution 25% coding Nonsynonymous PGDX76T USH1C Usher syndrome 1C (autosomal recessive; severe) CCDS7825.1 chr11_17480103_17480103_C_T 729D>N Substitution 28% coding Nonsynonymous PGDX76T USH2A Usher syndrome 2A (autosomal recessive; mild) CCDS31025.1 chr1_214085795_214085795_C_T 3017D>N Substitution 31% coding Nonsynonymous PGDX76T USH2A Usher syndrome 2A (autosomal recessive; mild) CCDS31025.1 chr1_214326717_214326717_G_A 1652P>S Substitution 22% coding Nonsynonymous PGDX76T USH2A Usher syndrome 2A (autosomal recessive; mild) CCDS31025.1 chr1_214310189_214310189_C_T 1976D>N Substitution 31% coding Nonsynonymous PGDX76T USP29 ubiquitin specific peptidase 29 CCDS33124.1 chr19_62333641_62333641_G_A 596E>K Substitution 62% coding PGDX76T USP41 ubiquitin specific peptidase 41 ENST00000292729 chr22_19051027_19051027_G_A NA Substitution Splice site 26% Nonsynonymous PGDX76T USP6NL USP6 N-terminal-like protein isoform 2 NM_001080491 chr10_11544507_11544507_G_A 826P>L Substitution 29% coding Nonsynonymous PGDX76T UST uronyl-2-sulfotransferase CCDS5213.1 chr6_149384268_149384268_C_T 299P>S Substitution 48% coding Nonsynonymous PGDX76T VAT1L vesicle amine transport protein 1 homolog (T. californica)-like CCDS32492.1 chr16_76569004_76569004_G_A 391D>N Substitution 58% coding Nonsynonymous PGDX76T VEPH1 ventricular zone expressed PH domain homolog 1 (zebrafish) CCDS3179.1 chr3_158466125_158466125_G_T 717P>T Substitution 22% coding Nonsynonymous PGDX76T VIL1 villin 1 CCDS2417.1 chr2_219010211_219010211_G_A 698V>M Substitution 29% coding Nonsynonymous PGDX76T VNN2 vanin 2 CCDS5161.1 chr6_133120309_133120309_G_A 95P>S Substitution 46% coding Nonsynonymous PGDX76T VWA3B von Willebrand factor A domain containing 3B CCDS42718.1 chr2_98076094_98076094_C_T 36S>F Substitution 29% coding Nonsynonymous PGDX76T WDFY4 WD repeat- and FYVE domain-containing protein 4 NM_020945 chr10_49844707_49844707_C_T 2856S>F Substitution 32% coding Nonsynonymous PGDX76T WDR25 WD repeat domain 25 CCDS32157.1 chr14_99917718_99917718_C_T 235P>L Substitution 40% coding PGDX76T WDR26 WD repeat domain 26 CCDS31037.1 chr1_222653217_222653217_T_ NA Deletion Frameshift 40% Nonsynonymous PGDX76T WDR87 WD repeat-containing protein 87 NM_031951 chr19_43069450_43069450_C_T 2195R>Q Substitution 51% coding Nonsynonymous PGDX76T WDR87 WD repeat-containing protein 87 NM_031951 chr19_43075788_43075788_C_T 760G>R Substitution 53% coding Nonsynonymous PGDX76T WDR88 WD repeat domain 88 CCDS12429.1 chr19_38346964_38346964_G_A 368D>N Substitution 46% coding Nonsynonymous PGDX76T WNK1 WNK lysine deficient protein kinase 1 CCDS8506.1 chr12_859346_859346_C_T 907P>L Substitution 27% coding Nonsynonymous PGDX76T WSCD2 WSC domain containing 2 ENST00000261400 chr12_107162441_107162441_G_A 123G>E Substitution 23% coding Nonsynonymous PGDX76T XKR5 XK; Kell blood group complex subunit-related family; member 5 NM_207411 chr8_6670157_6670157_G_A 123P>S Substitution 30% coding Nonsynonymous PGDX76T XYLT2 xylosyltransferase II CCDS11563.1 chr17_45788911_45788911_C_T 508S>L Substitution 31% coding Nonsynonymous PGDX76T YLPM1 YLP motif-containing protein 1 NM_019589 chr14_74317898_74317898_C_T 467H>Y Substitution 32% coding Nonsynonymous PGDX76T YSK4 YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) CCDS2176.2 chr2_135472908_135472908_A_C 148S>R Substitution 27% coding Nonsynonymous PGDX76T YY1AP1 YY1 associated protein 1 ENST00000368340 chr1_153924846_153924846_C_T 12G>R Substitution 16% coding Nonsynonymous PGDX76T ZAN zonadhesin ENST00000349350 chr7_100187603_100187603_C_T 647P>S Substitution 37% coding Nonsynonymous PGDX76T ZBBX zinc finger; B-box domain containing CCDS3199.2 chr3_168482968_168482968_G_A 630S>L Substitution 34% coding Nonsynonymous PGDX76T ZBED2 zinc finger; BED-type containing 2 CCDS2960.2 chr3_112795446_112795446_A_C 98L>R Substitution 29% coding Nonsynonymous PGDX76T ZBTB4 zinc finger and BTB domain containing 4 CCDS11107.1 chr17_7309959_7309959_G_A 296P>S Substitution 34% coding Nonsynonymous PGDX76T ZIC5 Zic family member 5 (odd-paired homolog; Drosophila) CCDS9494.2 chr13_99416039_99416039_C_A 529D>Y Substitution 22% coding Nonsynonymous PGDX76T ZKSCAN5 zinc finger with KRAB and SCAN domains 5 CCDS5667.1 chr7_98967056_98967056_G_C 590V>L Substitution 20% coding Nonsynonymous PGDX76T ZMAT4 zinc finger; matrin type 4 CCDS34885.1 chr8_40673975_40673975_G_A 99H>Y Substitution 27% coding Nonsynonymous PGDX76T ZNF133 zinc finger protein 133 CCDS13134.1 chr20_18244804_18244804_C_T 436P>S Substitution 27% coding Nonsynonymous PGDX76T ZNF169 zinc finger protein 169 CCDS6709.2 chr9_96095164_96095164_T_G 83L>R Substitution 25% coding Nonsynonymous PGDX76T ZNF233 zinc finger protein 233 CCDS33047.1 chr19_49469890_49469890_C_T 413L>F Substitution 55% coding Nonsynonymous PGDX76T ZNF287 zinc finger protein 287 CCDS11179.1 chr17_16411439_16411439_G_A 104S>F Substitution 37% coding Nonsynonymous PGDX76T ZNF385D zinc finger protein 385D CCDS2636.1 chr3_21442107_21442107_G_A 245P>S Substitution 29% coding Nonsynonymous PGDX76T ZNF414 zinc finger protein 414 CCDS12205.1 chr19_8482666_8482666_G_A 237P>S Substitution 80% coding Nonsynonymous PGDX76T ZNF467 zinc finger protein 467 CCDS5899.1 chr7_149093666_149093667_GT_AA 286H>L Substitution 37% coding Nonsynonymous PGDX76T ZNF605 zinc finger protein 605 isoform 2 NM_001164715 chr12_132012503_132012504_GG_AC 516T>S Substitution 27% coding Nonsynonymous PGDX76T ZNF616 zinc finger protein 616 CCDS33090.1 chr19_57310182_57310182_G_A 683H>Y Substitution 60% coding Nonsynonymous PGDX76T ZNF660 zinc finger protein 660 CCDS2716.1 chr3_44611623_44611623_C_T 312R>W Substitution 30% coding Nonsynonymous PGDX76T ZNF667 zinc finger protein 667 CCDS12944.1 chr19_61644347_61644347_G_A 610A>V Substitution 57% coding Nonsynonymous PGDX76T ZNF831 zinc finger protein 831 CCDS42894.1 chr20_57215433_57215433_A_C 1318R>S Substitution 29% coding Nonsynonymous PGDX76T ZNF831 zinc finger protein 831 CCDS42894.1 chr20_57199531_57199531_C_T 21P>L Substitution 27% coding Nonsynonymous PGDX76T ZNF831 zinc finger protein 831 CCDS42894.1 chr20_57261490_57261490_G_A 1364E>K Substitution 24% coding Nonsynonymous PGDX76T ZNF831 zinc finger protein 831 CCDS42894.1 chr20_57262888_57262888_G_A 1577A>T Substitution 29% coding Nonsynonymous PGDX76T ZP1 zona pellucida glycoprotein 1 (sperm receptor) CCDS31572.1 chr11_60397273_60397273_C_T 392P>L Substitution 36% coding Nonsynonymous PGDX76T ZSCAN20 zinc finger and SCAN domain containing 20 CCDS41300.1 chr1_33733359_33733359_G_A 943R>H Substitution 27% coding Nonsynonymous PGDX7T ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif; 5 CCDS13579.1 chr21_27218496_27218496_T_A 847Y>F Substitution 35% coding PGDX7T ARID1A AT rich interactive domain 1A (SWI-like) CCDS285.1 chr1_26960531_26960531_C_G 744S>X Substitution Nonsense 59% Nonsynonymous PGDX7T ARID1B AT rich interactive domain 1B (SWI1-like) CCDS5251.1 chr6_157559092_157559092_G_C 1304G>R Substitution 28% coding Nonsynonymous PGDX7T ATF7IP activating transcription factor 7 interacting protein CCDS8663.1 chr12_14468996_14468996_G_A 294V>I Substitution 32% coding PGDX7T ATP13A3 ATPase type 13A3 CCDS43187.1 chr3_195664163_195664163_C_A 16E>X Substitution Nonsense 43% Nonsynonymous PGDX7T ATP6V1E1 ATPase; H+ transporting; lysosomal 31kDa; V1 subunit E1 CCDS13745.1 chr22_16491395_16491395_G_C 3L>V Substitution 55% coding Nonsynonymous PGDX7T BMP2K BMP2 inducible kinase CCDS34019.1 chr4_80012076_80012076_A_G 520M>V Substitution 33% coding Nonsynonymous PGDX7T C16orf93 chromosome 16 open reading frame 93 CCDS32434.1 chr16_30676418_30676418_C_A 255Q>H Substitution 41% coding Nonsynonymous PGDX7T CD1A CD1a molecule CCDS1174.1 chr1_156493886_156493886_T_G 312L>R Substitution 40% coding Nonsynonymous PGDX7T CDCA2 cell division cycle associated 2 CCDS6049.1 chr8_25381653_25381653_G_C 181R>T Substitution 26% coding Nonsynonymous PGDX7T CLEC4D C-type lectin domain family 4; member D CCDS8593.1 chr12_8564092_8564092_T_G 130F>V Substitution 42% coding Nonsynonymous PGDX7T CLRN1 clarin 1 CCDS3153.1 chr3_152142076_152142076_A_C 139L>R Substitution 27% coding Nonsynonymous PGDX7T COL5A1 collagen; type V; alpha 1 CCDS6982.1 chr9_136795363_136795363_G_T 665D>Y Substitution 40% coding Nonsynonymous PGDX7T COL6A3 collagen; type VI; alpha 3 CCDS33412.1 chr2_237954419_237954419_A_T 592L>Q Substitution 31% coding Nonsynonymous PGDX7T DDR2 discoidin domain receptor tyrosine kinase 2 CCDS1241.1 chr1_161002456_161002456_C_G 381P>A Substitution 41% coding Nonsynonymous PGDX7T DNAJC18 DnaJ (Hsp40) homolog; subfamily C; member 18 CCDS4214.1 chr5_138786393_138786393_C_A 228A>S Substitution 37% coding Nonsynonymous PGDX7T EEFSEC eukaryotic elongation factor; selenocysteine-tRNA-specific CCDS33849.1 chr3_129543056_129543056_C_A 359D>E Substitution 29% coding Nonsynonymous PGDX7T FBN3 fibrillin 3 CCDS12196.1 chr19_8058054_8058054_G_A 2221R>W Substitution 36% coding Nonsynonymous PGDX7T GPR107 G protein-coupled receptor 107 CCDS35162.1 chr9_131881815_131881815_C_G 158Q>E Substitution 33% coding Nonsynonymous PGDX7T GPR112 G protein-coupled receptor 112 CCDS35409.1 chrX_135282783_135282783_C_T 2557A>V Substitution 33% coding Nonsynonymous PGDX7T HAO2 hydroxyacid oxidase 2 (long chain) CCDS901.1 chr1_119736316_119736316_G_T 278G>C Substitution 41% coding Nonsynonymous PGDX7T HIST1H3J histone cluster 1; H3j CCDS4638.1 chr6_27966178_27966178_G_T 124D>E Substitution 33% coding PGDX7T HPS6 Hermansky-Pudlak syndrome 6 CCDS7527.1 chr10_103817492_103817492_T_G 757Y>X Substitution Nonsense 32% PGDX7T IGSF22 immunoglobulin superfamily; member 22 CCDS41625.1 chr11_18698202_18698202__T NA Insertion Frameshift 11% Nonsynonymous PGDX7T INTS6 integrator complex subunit 6 CCDS9428.1 chr13_50841147_50841147_C_T 802C>Y Substitution 30% coding Nonsynonymous PGDX7T ITK IL2-inducible T-cell kinase CCDS4336.1 chr5_156604037_156604037_G_A 474E>K Substitution 40% coding Nonsynonymous PGDX7T JAKMIP2 janus kinase and microtubule interacting protein 2 CCDS4285.1 chr5_147021185_147021185_C_A 49R>I Substitution 41% coding Nonsynonymous PGDX7T JARID2 jumonji; AT rich interactive domain 2 CCDS4533.1 chr6_15604453_15604453_G_C 340A>P Substitution 41% coding Nonsynonymous PGDX7T KRTCAP3 keratinocyte associated protein 3 CCDS1754.1 chr2_27519500_27519500_C_G 110S>C Substitution 41% coding Nonsynonymous PGDX7T MASP2 mannan-binding lectin serine peptidase 2 CCDS123.1 chr1_11020422_11020422_T_G 308N>T Substitution 42% coding Nonsynonymous PGDX7T MEFV Mediterranean fever CCDS10498.1 chr16_3234255_3234255_C_A 587V>F Substitution 36% coding PGDX7T MRM1 mitochondrial rRNA methyltransferase 1 homolog CCDS32631.1 chr17_32038218_32038218_G_C NA Substitution Splice site 41% Nonsynonymous PGDX7T MYH10 myosin; heavy chain 10; non-muscle CCDS11144.1 chr17_8352644_8352644_A_C 1025L>W Substitution 60% coding Nonsynonymous PGDX7T NES nestin CCDS1151.1 chr1_154906069_154906069_T_C 1512K>R Substitution 18% coding Nonsynonymous PGDX7T OR13F1 olfactory receptor; family 13; subfamily F; member 1 CCDS35087.1 chr9_106306951_106306951_A_G 196Q>R Substitution 28% coding Nonsynonymous PGDX7T OR52N1 olfactory receptor; family 52; subfamily N; member 1 CCDS31398.1 chr11_5766168_5766168_A_C 152L>R Substitution 43% coding PGDX7T PABPC1L poly(A) binding protein; cytoplasmic 1-like CCDS42878.1 chr20_42992784_42992784_G_T NA Substitution Splice site 50% Nonsynonymous PGDX7T PAPPA2 pappalysin 2 CCDS41438.1 chr1_175035873_175035873_C_A 1728H>Q Substitution 42% coding Nonsynonymous PGDX7T PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 CCDS3676.1 chr4_108795472_108795472_A_G 310L>P Substitution 35% coding Nonsynonymous PGDX7T PDE4B phosphodiesterase 4B; cAMP-specific CCDS632.1 chr1_66151609_66151609_G_T 8M>I Substitution 15% coding Nonsynonymous PGDX7T PIK3C2A phosphoinositide-3-kinase; class 2; alpha polypeptide CCDS7824.1 chr11_17147055_17147055_C_G 270W>C Substitution 41% coding Nonsynonymous PGDX7T PIK3CA phosphoinositide-3-kinase; catalytic; alpha polypeptide CCDS43171.1 chr3_180430545_180430545_T_G 909F>C Substitution 32% coding Nonsynonymous PGDX7T PLD5 phospholipase D family; member 5 CCDS1621.1 chr1_240330625_240330625_T_G 349K>T Substitution 32% coding Nonsynonymous PGDX7T PLS3 plastin 3 CCDS14568.1 chrX_114788511_114788511_G_A 560D>N Substitution 75% coding Nonsynonymous PGDX7T PUS3 pseudouridylate synthase 3 CCDS8466.1 chr11_125268896_125268896_G_C 480I>M Substitution 19% coding Nonsynonymous PGDX7T PVRL3 poliovirus receptor-related 3 CCDS2957.1 chr3_112335597_112335597_G_C 499E>Q Substitution 28% coding Nonsynonymous PGDX7T RC3H1 ring finger and CCCH-type zinc finger domains 1 CCDS30940.1 chr1_172214288_172214288_G_T 355P>T Substitution 13% coding Nonsynonymous PGDX7T RGS22 regulator of G-protein signaling 22 CCDS43758.1 chr8_101044323_101044323_C_G 1225K>N Substitution 41% coding PGDX7T SCN1A sodium channel; voltage-gated; type I; alpha subunit CCDS33316.1 chr2_166558900_166558900_A_T NA Substitution Splice site 25% Nonsynonymous PGDX7T SERINC3 serine incorporator 3 CCDS13333.1 chr20_42571984_42571984_T_A 192N>I Substitution 31% coding Nonsynonymous PGDX7T SETD2 SET domain containing 2 CCDS2749.1 chr3_47073532_47073532_T_C 1746H>R Substitution 57% coding Nonsynonymous PGDX7T SI sucrase-isomaltase (alpha-glucosidase) CCDS3196.1 chr3_166207419_166207419_C_T 1429D>N Substitution 38% coding Nonsynonymous PGDX7T SNRNP35 small nuclear ribonucleoprotein 35kDa (U11/U12) CCDS9249.1 chr12_122516332_122516332_G_A 98E>K Substitution 71% coding Nonsynonymous PGDX7T SSTR2 somatostatin receptor 2 CCDS11691.1 chr17_68678109_68678109_G_C 352E>D Substitution 43% coding PGDX7T TDRD6 tudor domain containing 6 CCDS34470.1 chr6_46773785_46773785_T_C NA Substitution Splice site 30% Nonsynonymous PGDX7T THSD4 thrombospondin; type I; domain containing 4 CCDS10238.2 chr15_69322112_69322112_C_A 179Q>K Substitution 34% coding Nonsynonymous PGDX7T TP53 tumor protein p53 CCDS11118.1 chr17_7519251_7519251_C_T 135C>Y Substitution 70% coding Nonsynonymous PGDX7T TRAPPC4 trafficking protein particle complex 4 CCDS8407.1 chr11_118399254_118399254_G_C 199D>H Substitution 18% coding Nonsynonymous PGDX7T TTN titin NM_133379 chr2_179375124_179375124_T_C 94E>G Substitution 32% coding Nonsynonymous PGDX7T XRN2 5'-3' exoribonuclease 2 CCDS13144.1 chr20_21272798_21272798_G_A 494R>Q Substitution 43% coding PGDX7T ZNF551 zinc finger protein 551 CCDS12959.1 chr19_62889858_62889858__A NA Insertion Frameshift 27% Nonsynonymous PGDX7T ZZEF1 zinc finger; ZZ-type with EF-hand domain 1 CCDS11043.1 chr17_3925164_3925164_T_A 1153K>N Substitution 58% coding

COPY NUMBER VARIATIONS

Fold Sample Gene Symbol Gene Description Gene Accession Nucleotide Position (Genomic) Mutation type amplification

PGDX7 C7orf64 chromosome 7 open reading frame 64 ENSG00000127993 chr7:91996022-92004759 3,2 Amplification PGDX7 MIR653 microRNA 653 ENSG00000208014 chr7:92950007-92950103 3,4 Amplification PGDX7 MIR489 microRNA 489 MI0003124 chr7:92951183-92951267 3,2 Amplification guanine nucleotide binding protein (G protein); gamma transducing activity PGDX7 GNGT1 polypeptide 1 ENSG00000127928 chr7:93373755-93378421 3,2 Amplification PGDX7 GNG11 guanine nucleotide binding protein (G protein); gamma 11 ENSG00000127920 chr7:93388951-93393762 3,1 Amplification PGDX7 MIR320C1 microRNA 320c-1 ENSG00000221493 chr18:17517468-17517556 3,1 Amplification PGDX11 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 ENSG00000029153 chr12:27377254-27464733 3 Amplification PGDX11 C12orf67 chromosome 12 open reading frame 67 ENSG00000197503 chr12:24611164-24628369 3,3 Amplification PGDX11 C12orf70 chromosome 12 open reading frame 70 ENSG00000165935 chr12:27514831-27546384 3,5 Amplification PGDX11 CCDC91 coiled-coil domain containing 91 ENSG00000123106 chr12:28301399-28594366 4,5 Amplification PGDX11 KLHDC5 kelch domain containing 5 ENSG00000087448 chr12:27824453-27847240 3,8 Amplification PGDX11 MANSC4 MANSC domain containing 4 NM_001146221 chr12:27806865-27815476 4,4 Amplification PGDX11 MRPS35 mitochondrial ribosomal protein S35 ENSG00000061794 chr12:27754995-27800495 3,3 Amplification PGDX11 PPFIBP1 PTPRF interacting protein; binding protein 1 (liprin beta 1) ENSG00000110841 chr12:27568311-27739763 3,8 Amplification PGDX11 PTHLH parathyroid hormone-like hormone ENSG00000087494 chr12:28002283-28016183 4,5 Amplification PGDX11 REP15 RAB15 effector protein ENSG00000174236 chr12:27740694-27741833 4,3 Amplification PGDX24 IGHJ2 immunoglobulin heavy joining 2 ENSG00000211904 chr14:105402453-105402506 NA Deletion PGDX24 IGHD5-24 immunoglobulin heavy diversity 5-24 (non-functional) ENSG00000211909 chr14:105420805-105420825 NA Deletion PGDX24 IGHD2-21 immunoglobulin heavy diversity 2-21 ENSG00000211912 chr14:105425453-105425481 NA Deletion PGDX24 IGHD6-19 immunoglobulin heavy diversity 6-19 ENSG00000211914 chr14:105428601-105428622 NA Deletion PGDX24 IGHD5-18 immunoglobulin heavy diversity 5-18 ENSG00000211915 chr14:105430444-105430464 NA Deletion PGDX24 IGHD2-15 immunoglobulin heavy diversity 2-15 ENSG00000211918 chr14:105434859-105434890 NA Deletion PGDX24 IGHD6-13 immunoglobulin heavy diversity 6-13 ENSG00000211920 chr14:105438044-105438065 NA Deletion PGDX24 IGHD5-12 immunoglobulin heavy diversity 5-12 ENSG00000211921 chr14:105439551-105439574 NA Deletion PGDX24 IGHD5-5 immunoglobulin heavy diversity 5-5 ENSG00000211928 chr14:105449160-105449180 NA Deletion PGDX24 IGHD2-2 immunoglobulin heavy diversity 2-2 ENSG00000211931 chr14:105453729-105453760 NA Deletion PGDX24 IGHV1-8 immunoglobulin heavy variable 1-8 ENSG00000211939 chr14:105610121-105610560 NA Deletion PGDX24 IGHV3-9 immunoglobulin heavy variable 3-9 ENSG00000211940 chr14:105623328-105623774 NA Deletion PGDX24 IGKC immunoglobulin kappa constant ENSG00000211592 chr2:88937988-88938311 NA Deletion PGDX24 IGKV4-1 immunoglobulin kappa variable 4-1 ENSG00000211598 chr2:88966202-88966786 NA Deletion PGDX24 IGKV5-2 immunoglobulin kappa variable 5-2 ENSG00000211599 chr2:88977925-88978417 NA Deletion PGDX30 Al359832.1 microRNA ENSG00000216004 chr10:72645562-72645634 NA Deletion PGDX30 ATAD1 ATPase family; AAA domain containing 1 ENSG00000138138 chr10:89502853-89567897 NA Deletion PGDX30 RNLS renalase; FAD-dependent amine oxidase ENSG00000184719 chr10:90023600-90333062 NA Deletion PGDX30 LIPJ lipase; family member J ENSG00000204022 chr10:90336498-90356712 NA Deletion PGDX30 LIPF lipase; gastric ENSG00000182333 chr10:90405986-90428552 NA Deletion PGDX30 LIPK lipase; family member K ENSG00000204021 chr10:90474280-90502523 NA Deletion PGDX30 LIPN lipase; family member N ENSG00000204020 chr10:90511136-90527979 NA Deletion PGDX30 LIPM lipase; family member M ENSG00000173239 chr10:90552466-90570283 NA Deletion PGDX30 ANKRD22 ankyrin repeat domain 22 ENSG00000152766 chr10:90569638-90601712 NA Deletion PGDX30 STAMBPL1 STAM binding protein-like 1 ENSG00000138134 chr10:90629994-90723050 NA Deletion PGDX30 RP11-399O19.5 uncharacterized protein ENSG00000180139 chr10:90682420-90689711 NA Deletion PGDX30 ACTA2 actin; alpha 2; smooth muscle; aorta ENSG00000107796 chr10:90684812-90741127 NA Deletion PGDX30 FAS Fas (TNF receptor superfamily; member 6) ENSG00000026103 chr10:90739205-90765522 NA Deletion PGDX30 DUX4L2 double homeobox 4 like 2 NM_001127386 chr10:135330357-135341873 NA Deletion PGDX30 DUX4L3 double homeobox 4 like 3 NM_001164467 chr10:135330360-135341873 NA Deletion PGDX30 DUX4L5 double homeobox 4 like 5 NM_001127389 chr10:135330360-135341873 NA Deletion PGDX30 DUX4L6 double homeobox 4 like 6 NM_001127388 chr10:135330360-135341873 NA Deletion PGDX30 DUX4L7 double homeobox 4 like 7 NM_001127387 chr10:135330360-135341873 NA Deletion PGDX30 AL139318.1 microRNA ENSG00000212057 chr13:93915554-93915645 NA Deletion PGDX30 RN5-8S2 RA, 5.8 ribosomal 2 ENSG00000200434 chr16:33872926-33873078 NA Deletion PGDX30 CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma; p16; inhibits CDK4) ENSG00000147889 chr9:21957750-21984490 NA Deletion PGDX30 CDKN2B cyclin-dependent kinase inhibitor 2B (p15; inhibits CDK4) ENSG00000147883 chr9:21992901-21999312 NA Deletion PGDX30 FAM27E2 family with sequence similarity 27; member E2 ENSG00000204807 chr9:45623554-45624892 NA Deletion PGDX48 STXBP5 syntaxin binding protein 5 (tomosyn) ENSG00000164506 chr6:147566567-147750400 5,2 Amplification PGDX48 PRAMEF3 PRAME family member 3 ENSG00000204503 chr1:13200782-13204302 NA Deletion PGDX48 PRAMEF22 PRAME family member 22 NM_001100631 chr1:13201419-13204258 NA Deletion PGDX48 IGHD5-5 immunoglobulin heavy diversity 5-5 ENSG00000211928 chr14:105449160-105449180 NA Deletion PGDX48 AC139426.1 microRNA ENSG00000221444 chr15:30472882-30472965 NA Deletion PGDX48 FAM7A1 family with sequence similarity 7, member A1 ENSG00000215304 chr15:30486096-30504170 NA Deletion PGDX48 AQP4 aquaporin 4 ENSG00000171885 chr18:22686004-22699714 NA Deletion PGDX48 CHST9 carbohydrate sulfotransferase 9 ENSG00000154080 chr18:22749594-23019287 NA Deletion PGDX48 CDH2 cadherin 2; type 1; N-cadherin (neuronal) ENSG00000170558 chr18:23784927-24011443 NA Deletion PGDX48 MBD2 methyl-CpG binding domain protein 2 ENSG00000134046 chr18:49934572-50005156 NA Deletion PGDX48 SNORA37 small nucleolar RNA; H/ACA box 37 ENSG00000207233 chr18:50002651-50002780 NA Deletion PGDX48 POLI polymerase (DNA directed) iota ENSG00000101751 chr18:50049846-50078602 NA Deletion PGDX48 STARD6 StAR-related lipid transfer (START) domain containing 6 ENSG00000174448 chr18:50104961-50134941 NA Deletion PGDX48 C18orf54 chromosome 18 open reading frame 54 ENSG00000166845 chr18:50139168-50162402 NA Deletion PGDX48 C18orf26 chromosome 18 open reading frame 26 ENSG00000178690 chr18:50409387-50417722 NA Deletion PGDX48 RAB27B RAB27B; member RAS oncogene family ENSG00000041353 chr18:50646705-50708209 NA Deletion PGDX48 CCDC68 coiled-coil domain containing 68 ENSG00000166510 chr18:50719739-50777737 NA Deletion PGDX48 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 ENSG00000141682 chr18:55718171-55722518 NA Deletion PGDX48 MC4R melanocortin 4 receptor ENSG00000166603 chr18:56189322-56190988 NA Deletion PGDX48 NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 ENSG00000166342 chr18:68565766-68685790 NA Deletion PGDX48 CD180 CD180 molecule ENSG00000134061 chr5:66513859-66528373 NA Deletion PGDX48 AC079467.1 microRNA ENSG00000222939 chr5:66796105-66796192 NA Deletion PGDX48 PIK3R1 phosphoinositide-3-kinase; regulatory subunit 1 (alpha) ENSG00000145675 chr5:67558217-67633405 NA Deletion PGDX48 ZNF705D zinc finger protein 705D ENSG00000215343 chr8:11984255-12010434 NA Deletion PGDX48 ADAM3A ADAM metallopeptidase domain 3A (cyritestin 1) ENSG00000197475 chr8:39427723-39499522 NA Deletion PGDX60 MIR19A microRNA 19a ENSG00000207610 chr13:90801145-90801227 6 Amplification PGDX60 OR4F17 olfactory receptor; family 4; subfamily F; member 17 ENSG00000176695 chr19:61678-62596 5,3 Amplification PGDX60 AC105419.1 microRNA ENSG00000221707 chr2:81966281-81966362 5,4 Amplification PGDX60 MIR297 microRNA 297 ENSG00000215961 chr4:112001186-112001252 6,7 Amplification PGDX60 DEFB106B defensin; beta 106B ENSG00000187082 chr8:7327435-7331319 5,8 Amplification PGDX60 AL353707.1 microRNA ENSG00000221581 chr9:82538976-82539064 5 Amplification PGDX68 MIR9-1 microRNA 9-1 ENSG00000207933 chr1:154656756-154656845 6,1 Amplification PGDX68 CALML3 calmodulin-like 3 ENSG00000178363 chr10:5556923-5558225 5,5 Amplification PGDX68 FAM170B family with sequence similarity 170; member B ENSG00000172538 chr10:50009204-50012071 5 Amplification PGDX68 GJA3 gap junction protein; alpha 3; 46kDa ENSG00000121743 chr13:19610394-19633183 5,9 Amplification PGDX68 IL17D interleukin 17D ENSG00000172458 chr13:20175478-20195237 11,2 Amplification PGDX68 MRP63 mitochondrial ribosomal protein 63 ENSG00000173141 chr13:20648371-20651220 8,4 Amplification PGDX68 AL136219.1 uncharacterized protein ENSG00000215570 chr13:20846460-20847329 5,6 Amplification PGDX68 AL157931.1 microRNA ENSG00000223116 chr13:22449993-22450136 5,1 Amplification PGDX68 RP11-45B20.4 lincRNA ENSG00000196593 chr13:23379422-23421454 5,7 Amplification PGDX68 SPATA13 spermatogenesis associated 13 ENSG00000182957 chr13:23632860-23779212 5,1 Amplification PGDX68 AL138815.1 uncharacterized protein ENSG00000215549 chr13:25340060-25353095 6,2 Amplification PGDX68 SHISA2 shisa homolog 2 ENSG00000180730 chr13:25516734-25523198 5,4 Amplification PGDX68 CDX2 caudal type homeobox 2 ENSG00000165556 chr13:27434277-27441317 9,1 Amplification PGDX68 MTUS2A1 MTUS2 antisense RNA 1 (non-protein coding) ENSG00000179141 chr13:28948684-28959887 6,3 Amplification PGDX68 SLC7A1 solute carrier family 7 (cationic amino acid transporter; y+ system); member 1 ENSG00000139514 chr13:28981551-29067825 6,1 Amplification PGDX68 UBL3 ubiquitin-like 3 ENSG00000122042 chr13:29236545-29322820 7 Amplification PGDX68 RP11-90M5.1 uncharacterized protein ENSG00000122043 chr13:29408041-29422625 12,5 Amplification PGDX68 KATNAL1 katanin p60 subunit A-like 1 ENSG00000102781 chr13:29674766-29779584 5,3 Amplification PGDX68 ALOX5AP arachidonate 5-lipoxygenase-activating protein ENSG00000132965 chr13:30207668-30236556 5,8 Amplification PGDX68 TRAJ34 T cell receptor alpha joining 34 ENSG00000211855 chr14:22046490-22046548 6,6 Amplification PGDX68 SCARNA14 small Cajal body-specific RNA 14 ENSG00000212299 chr15:64426598-64426734 5,2 Amplification PGDX68 AC025284.1 microRNA ENSG00000216131 chr16:76027407-76027500 5,6 Amplification PGDX68 MIR152 microRNA 152 ENSG00000207947 chr17:43469525-43469612 5,1 Amplification PGDX68 AC074391.1 lincRNA ENSG00000204929 chr2:65517367-65563784 6,5 Amplification PGDX68 MIR663B microRNA 663b ENSG00000221288 chr2:132731008-132731123 5,2 Amplification PGDX68 MIR10B microRNA 10b ENSG00000207744 chr2:176723276-176723386 5 Amplification PGDX68 MIR663A microRNA 663a MI0003672 chr20:26136821-26136914 14,2 Amplification PGDX68 ID1 inhibitor of DNA binding 1; dominant negative helix-loop-helix protein ENSG00000125968 chr20:29656752-29657974 6,2 Amplification PGDX68 MIR298 microRNA 298 ENSG00000216031 chr20:56826675-56826763 5,7 Amplification PGDX68 FAM84B family with sequence similarity 84; member B ENSG00000168672 chr8:127633868-127639648 5,5 Amplification PGDX68 JRK jerky homolog NM_001077527 chr8:143735875-143748403 5,4 Amplification PGDX68 GSDMD gasdermin D ENSG00000104518 chr8:144706699-144716372 5,3 Amplification PGDX68 MIR601 microRNA 601 ENSG00000207991 chr9:125204624-125204703 5,1 Amplification PGDX68 MID1IP1 MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) ENSG00000165175 chrX:38545628-38550727 5,4 Amplification PGDX68 SNORA35 small nucleolar RNA; H/ACA box 35 ENSG00000208839 chrX:113771514-113771642 5,2 Amplification PGDX68 MIR888 microRNA 888 ENSG00000216005 chrX:144883993-144884070 5 Amplification PGDX135 STK19 serine/threonine kinase 19 NM_032454 chr6:32089495-32089939 NA Deletion PGDX135 MIR1302-9 microRNA 1302-9 ENSG00000221292 chr9:20143-20281 NA Deletion PGDX140 OR4F5 olfactory receptor; family 4; subfamily F; member 5 ENSG00000177693 chr1:58953-59871 NA Deletion PGDX140 MIR511-1 microRNA 511-1 ENSG00000207937 chr10:17927112-17927199 NA Deletion PGDX140 IGHD5-5 immunoglobulin heavy diversity 5-5 ENSG00000211928 chr14:105449160-105449180 NA Deletion PGDX140 IFNA2 interferon; alpha 2 ENSG00000188379 chr9:21374252-21375396 NA Deletion PGDX140 IFNA8 interferon; alpha 8 ENSG00000120242 chr9:21399145-21400184 NA Deletion PGDX140 IFNA1 interferon; alpha 1 ENSG00000197919 chr9:21430439-21431315 NA Deletion PGDX140 IFNE interferon; epsilon ENSG00000184995 chr9:21470840-21472312 NA Deletion PGDX140 MIR31 microRNA 31 ENSG00000199177 chr9:21502113-21502184 NA Deletion PGDX140 MTAP methylthioadenosine phosphorylase ENSG00000099810 chr9:21792634-22019516 NA Deletion PGDX140 CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma; p16; inhibits CDK4) ENSG00000147889 chr9:21957750-21984490 NA Deletion PGDX140 CDKN2B cyclin-dependent kinase inhibitor 2B (p15; inhibits CDK4) ENSG00000147883 chr9:21992901-21999312 NA Deletion PGDX140 DMRTA1 DMRT-like family A1 ENSG00000176399 chr9:22436839-22442472 NA Deletion PGDX330 SEC61G Sec61 gamma subunit ENSG00000132432 chr7:54787433-54794439 27,7 Amplification PGDX330 EGFR epidermal growth factor receptor ENSG00000146648 chr7:55054218-55242525 27,2 Amplification PGDX330 TRAJ2 T-cell receptor alpha J gene segment ENSG00000211887 chr14:22082856-22082920 3,2 Amplification PGDX330 PARK7 Parkinson disease (autosomal recessive; early onset) 7 ENSG00000116288 chr1:7944300-7967929 NA Deletion PGDX330 ERRFI1 ERBB receptor feedback inhibitor 1 ENSG00000116285 chr1:7994366-8008980 NA Deletion PGDX330 SLC45A1 solute carrier family 45; member 1 ENSG00000162426 chr1:8300755-8326814 NA Deletion PGDX330 MIR34A microRNA 34a ENSG00000207865 chr1:9134313-9134423 NA Deletion PGDX330 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ENSG00000049239 chr1:9217449-9253983 NA Deletion PGDX330 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 ENSG00000171621 chr1:9275527-9352175 NA Deletion PGDX330 PRAMEF5 PRAME family member 5 ENSG00000204502 chr1:13232405-13241644 NA Deletion PGDX330 hsa-mir-1302-2 hsa-mir-1302-2 ENSG00000221292 chr9:20143-20281 NA Deletion PGDX330 IFNA8 interferon; alpha 8 ENSG00000120242 chr9:21399145-21400184 NA Deletion PGDX330 IFNA1 interferon; alpha 1 ENSG00000197919 chr9:21430439-21431315 NA Deletion PGDX330 AL353732.14 uncharacterized protein ENSG00000171889 chr9:21444269-21549697 NA Deletion PGDX330 IFNE interferon; epsilon ENSG00000184995 chr9:21470840-21472312 NA Deletion PGDX330 MIR31 microRNA 31 ENSG00000199177 chr9:21502113-21502184 NA Deletion PGDX330 MTAP methylthioadenosine phosphorylase ENSG00000099810 chr9:21792634-22019516 NA Deletion PGDX330 CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma; p16; inhibits CDK4) ENSG00000147889 chr9:21957750-21984490 NA Deletion PGDX330 DMRTA1 DMRT-like family A1 ENSG00000176399 chr9:22436839-22442472 NA Deletion PGDX330 AL157884.9 microRNA ENSG00000221450 chr9:32698645-32698739 NA Deletion PGDX330 FAM75A6 family with sequence similarity 75; member A6 ENSG00000185775 chr9:43564499-43570731 NA Deletion PGDX330 AL445665.20 uncharacterized protein ENSG00000182021 chr9:68940082-68945535 NA Deletion PGDX330 hsa-mir-511-2 hsa-mir-511-2 ENSG00000207938 chr10:18174041-18174128 NA Deletion PGDX330 FAM21B family with sequence similarity 21; member B ENSG00000152726 chr10:47414028-47469423 NA Deletion PGDX330 AC137803.2 uncharacterized protein ENSG00000196908 chr16:15365325-15371268 NA Deletion PGDX330 SNORD3B-1 small nucleolar RNA, C/D box 3B-1 ENSG00000200229 chr17:18905949-18906165 NA Deletion PGDX369T RPS16 ribosomal protein S16 ENSG00000105193 chr19:44615686-44618458 3,1 Amplification PGDX369T ZNF780B zinc finger protein 780B ENSG00000128000 chr19:45227211-45253952 3,1 Amplification PGDX369T ZNF780A zinc finger protein 780A ENSG00000197782 chr19:45270603-45288685 3,2 Amplification PGDX379T2 HES4 hairy and enhancer of split 4 (Drosophila) ENSG00000188290 chr1:924205-925415 3,2 Amplification PGDX379T2 AGRN agrin ENSG00000188157 chr1:945365-981355 4 Amplification PGDX379T2 C1orf159 chromosome 1 open reading frame 159 ENSG00000131591 chr1:1007060-1041599 3,3 Amplification PGDX379T2 AL390719.47 Uncharacterized protein ENSG00000215916 chr1:1007067-1041338 3,3 Amplification PGDX379T2 MIR200B microRNA 200b ENSG00000207730 chr1:1092346-1092441 6,1 Amplification PGDX379T2 MIR200A microRNA 200a ENSG00000207607 chr1:1093105-1093195 6,7 Amplification PGDX379T2 TTLL10 tubulin tyrosine ligase-like family; member 10 ENSG00000162571 chr1:1099145-1123178 3,5 Amplification PGDX379T2 TNFRSF18 tumor necrosis factor receptor superfamily; member 18 ENSG00000186891 chr1:1128750-1131952 3,7 Amplification PGDX379T2 TNFRSF4 tumor necrosis factor receptor superfamily; member 4 ENSG00000186827 chr1:1136568-1139411 3,3 Amplification PGDX379T2 SDF4 stromal cell derived factor 4 ENSG00000078808 chr1:1142150-1157310 3,2 Amplification PGDX379T2 B3GALT6 UDP-Gal:betaGal beta 1;3-galactosyltransferase polypeptide 6 ENSG00000176022 chr1:1157491-1160284 6 Amplification PGDX379T2 FAM132A family with sequence similarity 132; member A ENSG00000184163 chr1:1167695-1171965 3,8 Amplification PGDX379T2 UBE2J2 ubiquitin-conjugating enzyme E2; J2 (UBC6 homolog; yeast) ENSG00000160087 chr1:1179154-1199097 3,2 Amplification PGDX379T2 ACAP3 ArfGAP with coiled-coil; ankyrin repeat and PH domains 3 ENSG00000131584 chr1:1217626-1233132 4,4 Amplification PGDX379T2 TAS1R3 taste receptor; type 1; member 3 ENSG00000169962 chr1:1256588-1260550 3,1 Amplification PGDX379T2 DVL1 dishevelled; dsh homolog 1 (Drosophila) ENSG00000107404 chr1:1260520-1274623 4,8 Amplification PGDX379T2 MXRA8 matrix-remodelling associated 8 ENSG00000162576 chr1:1277933-1286506 3,7 Amplification PGDX379T2 VWA1 von Willebrand factor A domain containing 1 ENSG00000179403 chr1:1360765-1368124 4,4 Amplification PGDX379T2 C1orf70 chromosome 1 open reading frame 70 ENSG00000205090 chr1:1460428-1465603 4,6 Amplification PGDX379T2 MIB2 mindbomb homolog 2 (Drosophila) ENSG00000197530 chr1:1540735-1555853 4 Amplification PGDX379T2 GABRD gamma-aminobutyric acid (GABA) A receptor; delta ENSG00000187730 chr1:1940627-1952052 3,3 Amplification PGDX379T2 SKI v-ski sarcoma viral oncogene homolog (avian) ENSG00000157933 chr1:2149993-2231511 3,3 Amplification PGDX379T2 PANK4 pantothenate kinase 4 ENSG00000157881 chr1:2429834-2447895 3,2 Amplification PGDX379T2 HES5 hairy and enhancer of split 5 (Drosophila) ENSG00000197921 chr1:2450045-2451544 3,8 Amplification PGDX379T2 C1orf93 chromosome 1 open reading frame 93 ENSG00000157870 chr1:2508096-2512762 3,8 Amplification PGDX379T2 AL831784.17 Uncharacterized protein ENSG00000215913 chr1:2562666-2566862 3,7 Amplification PGDX379T2 TTC34 tetratricopeptide repeat domain 34 ENSG00000215912 chr1:2690013-2696096 4,3 Amplification PGDX379T2 MEGF6 multiple EGF-like-domains 6 ENSG00000162591 chr1:3394365-3517919 4 Amplification PGDX379T2 TP73 tumor protein p73 ENSG00000078900 chr1:3558988-3640327 3 Amplification PGDX379T2 HES2 hairy and enhancer of split 2 (Drosophila) ENSG00000069812 chr1:6395064-6407317 4,2 Amplification PGDX379T2 TNFRSF25 tumor necrosis factor receptor superfamily; member 25 ENSG00000215788 chr1:6443797-6448855 3,1 Amplification PGDX379T2 SRM spermidine synthase ENSG00000116649 chr1:11037235-11042678 3,5 Amplification PGDX379T2 FBLIM1 filamin-binding LIM protein 1 isoform b NM_001024215 chr1:15963580-15974302 3 Amplification PGDX379T2 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ENSG00000162545 chr1:20681470-20685315 3,5 Amplification PGDX379T2 FAM43B family with sequence similarity 43; member B ENSG00000183114 chr1:20751518-20754099 3,1 Amplification PGDX379T2 TRNP1 TMF1-regulated nuclear protein 1 ENSG00000204157 chr1:27192781-27199964 3,7 Amplification PGDX379T2 IFI6 interferon; alpha-inducible protein 6 ENSG00000126709 chr1:27865158-27871311 3 Amplification PGDX379T2 OPRD1 opioid receptor; delta 1 ENSG00000116329 chr1:29011240-29062795 3,3 Amplification PGDX379T2 TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) ENSG00000116819 chr1:35811557-35833514 3,1 Amplification PGDX379T2 FAM176B family with sequence similarity 176; member B ENSG00000142694 chr1:36560218-36562342 5,8 Amplification PGDX379T2 CITED4 Cbp/p300-interacting transactivator; with Glu/Asp-rich carboxy-terminal domain; 4 ENSG00000179862 chr1:41099309-41100625 5,5 Amplification PGDX379T2 FOXO6 forkhead box O6 ENSG00000204060 chr1:41600180-41621849 4,3 Amplification PGDX379T2 TMEM125 transmembrane protein 125 ENSG00000179178 chr1:43508251-43512259 3,4 Amplification PGDX379T2 TCTEX1D4 Tctex1 domain containing 4 ENSG00000188396 chr1:45044171-45045544 4,4 Amplification PGDX379T2 TAL1 T-cell acute lymphocytic leukemia 1 ENSG00000162367 chr1:47454549-47469974 3,7 Amplification PGDX379T2 FOXE3 forkhead box E3 ENSG00000186790 chr1:47654330-47656311 6 Amplification PGDX379T2 FOXD2 forkhead box D2 ENSG00000186564 chr1:47674275-47678950 4,3 Amplification PGDX379T2 DMRTA2 DMRT-like family A2 ENSG00000142700 chr1:50655808-50661729 4,6 Amplification PGDX379T2 DMRTB1 DMRT-like family B with proline-rich C-terminal; 1 ENSG00000143006 chr1:53697659-53705746 3,3 Amplification PGDX379T2 GLIS1 GLIS family zinc finger 1 ENSG00000174332 chr1:53744493-53972465 3,2 Amplification PGDX379T2 FOXD3 forkhead box D3 ENSG00000187140 chr1:63561317-63563385 4,3 Amplification PGDX379T2 GFI1 growth factor independent 1 transcription repressor ENSG00000162676 chr1:92712905-92725021 3,8 Amplification PGDX379T2 MIR760 microRNA 760 ENSG00000211575 chr1:94084975-94085055 4,6 Amplification PGDX379T2 MIR137 microRNA 137 ENSG00000207958 chr1:98284213-98284315 3,3 Amplification PGDX379T2 FAM19A3 family with sequence similarity 19 (chemokine (C-C motif)-like); member A3 ENSG00000184599 chr1:113064711-113071379 3,3 Amplification PGDX379T2 ZNF697 zinc finger protein 697 ENSG00000143067 chr1:119966850-119967261 4,9 Amplification PGDX379T2 AL357493.8 Histone H2B ENSG00000203851 chr1:120707518-120708498 3,6 Amplification PGDX379T2 LCE3A late cornified envelope 3A ENSG00000185962 chr1:150861933-150862203 3,2 Amplification PGDX379T2 MEX3A mex-3 homolog A (C. elegans) ENSG00000203759 chr1:154308427-154318413 3 Amplification PGDX379T2 AL355388.1 miRNA ENSG00000222611 chr1:154313787-154313869 3,2 Amplification PGDX379T2 DUSP23 dual specificity phosphatase 23 ENSG00000158716 chr1:158017345-158018957 3,7 Amplification PGDX379T2 GPR25 G protein-coupled receptor 25 ENSG00000170128 chr1:199108705-199109929 3,7 Amplification PGDX379T2 RD3 retinal degeneration 3 ENSG00000198570 chr1:209716486-209732882 3,7 Amplification PGDX379T2 WNT9A wingless-type MMTV integration site family; member 9A ENSG00000143816 chr1:226175319-226202299 4 Amplification PGDX379T2 GJC2 gap junction protein; gamma 2; 47kDa ENSG00000198835 chr1:226404037-226414150 6,4 Amplification PGDX379T2 C1orf145 chromosome 1 open reading frame 145 ENSG00000162913 chr1:226457830-226467988 6,2 Amplification PGDX379T2 HIST3H3 histone cluster 3; H3 ENSG00000168148 chr1:226679168-226679649 3,1 Amplification PGDX379T2 HIST3H2A histone cluster 3; H2a ENSG00000181218 chr1:226711302-226712197 3 Amplification PGDX379T2 GREM2 gremlin 2; cysteine knot superfamily; homolog (Xenopus laevis) ENSG00000180875 chr1:238719495-238842085 3,4 Amplification PGDX379T2 C1orf229 chromosome 1 open reading frame 229 ENSG00000221953 chr1:245340084-245342342 3,7 Amplification PGDX379T2 SOX11 SRY (sex determining region Y)-box 11 ENSG00000176887 chr2:5750249-5758968 3,1 Amplification PGDX379T2 GDF7 growth differentiation factor 7 ENSG00000143869 chr2:20729904-20734731 4,1 Amplification PGDX379T2 MIR1301 microRNA 1301 ENSG00000221445 chr2:25405012-25405094 8,3 Amplification PGDX379T2 KCNK3 potassium channel; subfamily K; member 3 ENSG00000171303 chr2:26769084-26807570 3,4 Amplification PGDX379T2 UCN urocortin ENSG00000163794 chr2:27383768-27384634 5,5 Amplification PGDX379T2 KCNK12 potassium channel; subfamily K; member 12 ENSG00000184261 chr2:47601418-47651002 3,5 Amplification PGDX379T2 EMX1 empty spiracles homeobox 1 ENSG00000135638 chr2:72996896-73015528 3,5 Amplification PGDX379T2 EGR4 early growth response 4 ENSG00000135625 chr2:73371565-73374181 3,3 Amplification PGDX379T2 MAL mal; T-cell differentiation protein ENSG00000172005 chr2:95055155-95083462 3,1 Amplification PGDX379T2 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa ENSG00000115085 chr2:97696462-97722755 3,2 Amplification PGDX379T2 POU3F3 POU class 3 homeobox 3 ENSG00000198914 chr2:104838400-104839903 3,7 Amplification PGDX379T2 NCK2 NCK adaptor protein 2 ENSG00000071051 chr2:105727785-105877160 3,2 Amplification PGDX379T2 EN1 engrailed homeobox 1 ENSG00000163064 chr2:119316216-119322229 4,4 Amplification PGDX379T2 C1QL2 complement component 1; q subcomponent-like 2 ENSG00000144119 chr2:119630288-119632941 3,1 Amplification PGDX379T2 SFT2D3 SFT2 domain containing 3 ENSG00000173349 chr2:128175066-128177877 3,8 Amplification PGDX379T2 RPRM reprimo; TP53 dependent G2 arrest mediator candidate ENSG00000177519 chr2:154042097-154043568 3 Amplification PGDX379T2 SP5 Sp5 transcription factor ENSG00000204335 chr2:171280102-171282743 4,9 Amplification PGDX379T2 SP9 Sp9 transcription factor homolog (mouse) ENSG00000217236 chr2:174907919-174911466 3,5 Amplification PGDX379T2 AC018470.11 Uncharacterized protein ENSG00000187876 chr2:174908846-174910397 3,5 Amplification PGDX379T2 FZD5 frizzled homolog 5 (Drosophila) ENSG00000163251 chr2:208335554-208342388 3,4 Amplification PGDX379T2 WNT6 wingless-type MMTV integration site family; member 6 ENSG00000115596 chr2:219432782-219447198 3,7 Amplification PGDX379T2 FEV FEV (ETS oncogene family) ENSG00000163497 chr2:219554052-219558623 4 Amplification PGDX379T2 MIR375 microRNA 375 ENSG00000198973 chr2:219574610-219574674 11,1 Amplification PGDX379T2 NPPC natriuretic peptide precursor C ENSG00000163273 chr2:232494773-232499357 3,5 Amplification PGDX379T2 AC068134.5 Uncharacterized protein ENSG00000204121 chr2:232959741-232959873 10,6 Amplification PGDX379T2 ALPPL2 alkaline phosphatase; placental-like 2 ENSG00000163286 chr2:232979795-232983669 3,1 Amplification PGDX379T2 C2orf82 chromosome 2 open reading frame 82 ENSG00000182600 chr2:233441967-233449360 5,1 Amplification PGDX379T2 PRLH prolactin releasing hormone ENSG00000071677 chr2:238139955-238140557 3,3 Amplification PGDX379T2 ESPNL espin-like ENSG00000144488 chr2:238673689-238706667 3,2 Amplification PGDX379T2 KLHL30 kelch-like 30 (Drosophila) ENSG00000168427 chr2:238712101-238726327 3,6 Amplification PGDX379T2 HES6 hairy and enhancer of split 6 (Drosophila) ENSG00000144485 chr2:238811648-238813421 4,4 Amplification PGDX379T2 MIR149 microRNA 149 ENSG00000207611 chr2:241044090-241044179 6,3 Amplification PGDX379T2 BOK BCL2-related ovarian killer ENSG00000176720 chr2:242146864-242162226 3,7 Amplification PGDX379T2 GAL3ST2 galactose-3-O-sulfotransferase 2 ENSG00000154252 chr2:242364912-242392375 3,1 Amplification PGDX379T2 NEU4 sialidase 4 ENSG00000204099 chr2:242398592-242407412 4,1 Amplification PGDX379T2 PDCD1 programmed cell death 1 ENSG00000188389 chr2:242440705-242449731 3,8 Amplification PGDX379T2 VGLL4 transcription cofactor vestigial-like protein 4 isoform c NM_001128220 chr3:11572543-11598836 3,6 Amplification PGDX379T2 CLEC3B C-type lectin domain family 3; member B ENSG00000163815 chr3:45042762-45052567 3,1 Amplification PGDX379T2 TMEM158 transmembrane protein 158 (gene/pseudogene) ENSG00000178550 chr3:45241620-45242523 3,2 Amplification PGDX379T2 GPR27 G protein-coupled receptor 27 ENSG00000170837 chr3:71885890-71887018 5,2 Amplification PGDX379T2 CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 ENSG00000180767 chr3:127725865-127744824 3,7 Amplification PGDX379T2 GP9 glycoprotein IX (platelet) ENSG00000169704 chr3:130262334-130263943 4,5 Amplification PGDX379T2 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 ENSG00000175093 chr3:142252943-142350143 4 Amplification PGDX379T2 AC078802.14 telomerase RNA component ENSG00000200182 chr3:170965091-170965529 3,1 Amplification PGDX379T2 MIR1224 microRNA 1224 ENSG00000221120 chr3:185441886-185441971 3,3 Amplification PGDX379T2 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ENSG00000163888 chr3:185459696-185461945 5,5 Amplification PGDX379T2 TNK2 tyrosine kinase; non-receptor; 2 ENSG00000061938 chr3:197074632-197120277 3,3 Amplification PGDX379T2 DGKQ diacylglycerol kinase; theta 110kDa ENSG00000145214 chr4:942674-957344 3,6 Amplification PGDX379T2 SLC26A1 solute carrier family 26 (sulfate transporter); member 1 ENSG00000145217 chr4:962862-977224 3,4 Amplification PGDX379T2 IDUA iduronidase; alpha-L- ENSG00000127415 chr4:970784-988317 3,2 Amplification PGDX379T2 FGFRL1 fibroblast growth factor receptor-like 1 ENSG00000127418 chr4:994939-1010686 4,6 Amplification PGDX379T2 MAEA macrophage erythroblast attacher ENSG00000090316 chr4:1273671-1323925 3,3 Amplification PGDX379T2 FAM53A family with sequence similarity 53; member A ENSG00000174137 chr4:1611604-1655516 3,5 Amplification PGDX379T2 TMEM129 transmembrane protein 129 ENSG00000168936 chr4:1687476-1692882 3,3 Amplification PGDX379T2 FGFR3 fibroblast growth factor receptor 3 ENSG00000068078 chr4:1764831-1780397 3,8 Amplification PGDX379T2 AL132868.24 CH455 (Fragment). ENSG00000206123 chr4:2013351-2015495 5,1 Amplification PGDX379T2 NAT8L N-acetyltransferase 8-like (GCN5-related; putative) ENSG00000185818 chr4:2031384-2037433 5 Amplification PGDX379T2 ZFYVE28 zinc finger; FYVE domain containing 28 ENSG00000159733 chr4:2241122-2390167 3,2 Amplification PGDX379T2 HGFAC HGF activator ENSG00000109758 chr4:3413446-3421020 3,2 Amplification PGDX379T2 DOK7 docking protein 7 ENSG00000175920 chr4:3434830-3472350 3,2 Amplification PGDX379T2 MSX1 msh homeobox 1 ENSG00000163132 chr4:4912292-4916561 3,6 Amplification PGDX379T2 MIR572 microRNA 572 ENSG00000207716 chr4:10979548-10979643 3,8 Amplification PGDX379T2 NKX3-2 NK3 homeobox 2 ENSG00000109705 chr4:13151551-13155212 3,2 Amplification PGDX379T2 SOD3 superoxide dismutase 3; extracellular ENSG00000109610 chr4:24406182-24411565 3,5 Amplification PGDX379T2 MIR574 microRNA 574 ENSG00000207944 chr4:38546047-38546143 5,7 Amplification PGDX379T2 TMSL3 thymosin-like 3 ENSG00000187653 chr4:91978658-91979292 3,1 Amplification PGDX379T2 LRRC14B leucine rich repeat containing 14B ENSG00000185028 chr5:244617-248468 3,7 Amplification PGDX379T2 AC010442.7 PP7080. ENSG00000188242 chr5:523625-526177 3 Amplification PGDX379T2 SLC9A3 solute carrier family 9 (sodium/hydrogen exchanger); member 3 ENSG00000066230 chr5:526333-577549 3,8 Amplification PGDX379T2 TPPP tubulin polymerization promoting protein ENSG00000171368 chr5:712976-746510 4 Amplification PGDX379T2 NKD2 naked cuticle homolog 2 (Drosophila) ENSG00000145506 chr5:1062076-1091925 3,8 Amplification PGDX379T2 SLC12A7 solute carrier family 12 (potassium/chloride transporters); member 7 ENSG00000113504 chr5:1103488-1165172 3,6 Amplification PGDX379T2 TERT telomerase reverse transcriptase ENSG00000164362 chr5:1306286-1348162 3,2 Amplification PGDX379T2 IRX2 iroquois homeobox 2 ENSG00000170561 chr5:2798958-2804774 4,4 Amplification PGDX379T2 IRX1 iroquois homeobox 1 ENSG00000170549 chr5:3649167-3654517 4,2 Amplification PGDX379T2 ANKRD33B ankyrin repeat domain 33B ENSG00000164236 chr5:10617434-10710927 4,5 Amplification PGDX379T2 FBXL7 F-box and leucine-rich repeat protein 7 ENSG00000183580 chr5:15669090-15990295 3,1 Amplification PGDX379T2 BASP1 brain abundant; membrane attached signal protein 1 ENSG00000176788 chr5:17270749-17329943 4,4 Amplification PGDX379T2 OTP orthopedia homeobox ENSG00000171540 chr5:76960292-76970278 3,2 Amplification PGDX379T2 ANKRD43 ankyrin repeat domain 43 ENSG00000198944 chr5:132176931-132180388 4,3 Amplification PGDX379T2 PITX1 paired-like homeodomain 1 ENSG00000069011 chr5:134391322-134397863 3,3 Amplification PGDX379T2 NEUROG1 neurogenin 1 ENSG00000181965 chr5:134897870-134899538 3,2 Amplification PGDX379T2 MIR874 microRNA 874 ENSG00000216009 chr5:137011159-137011237 4,2 Amplification PGDX379T2 AC005609.1 Uncharacterized protein ENSG00000178137 chr5:140222580-140223159 3,4 Amplification PGDX379T2 CDX1 caudal type homeobox 1 ENSG00000113722 chr5:149526536-149544314 3,7 Amplification PGDX379T2 FBLL1 fibrillarin-like 1 ENSG00000188573 chr5:167889087-167890086 3,4 Amplification PGDX379T2 MIR218-2 microRNA 218-2 ENSG00000207739 chr5:168127728-168127838 3,1 Amplification PGDX379T2 TLX3 T-cell leukemia homeobox 3 ENSG00000164438 chr5:170668892-170671743 4,4 Amplification PGDX379T2 NEURL1B neuralized homolog 1B (Drosophila) ENSG00000214357 chr5:172000880-172051136 6,2 Amplification PGDX379T2 C5orf47 chromosome 5 open reading frame 47 ENSG00000185056 chr5:173348778-173365748 5,7 Amplification PGDX379T2 RNF44 ring finger protein 44 ENSG00000146083 chr5:175886305-175897027 3,7 Amplification PGDX379T2 MXD3 MAX dimerization protein 3 ENSG00000213347 chr5:176666811-176671898 3,4 Amplification PGDX379T2 PFN3 profilin 3 ENSG00000196570 chr5:176759713-176760243 5,4 Amplification PGDX379T2 GRK6 G protein-coupled receptor kinase 6 ENSG00000198055 chr5:176786292-176802456 3,1 Amplification PGDX379T2 PRR7 proline rich 7 (synaptic) ENSG00000131188 chr5:176806399-176815889 3,3 Amplification PGDX379T2 DOK3 docking protein 3 ENSG00000146094 chr5:176861520-176870033 3,1 Amplification PGDX379T2 SCGB3A1 secretoglobin; family 3A; member 1 ENSG00000161055 chr5:179949710-179951146 3,2 Amplification PGDX379T2 FOXQ1 forkhead box Q1 ENSG00000164379 chr6:1257674-1259993 4,3 Amplification PGDX379T2 PPP1R3G protein phosphatase 1; regulatory (inhibitor) subunit 3G ENSG00000219607 chr6:5030905-5031795 3,5 Amplification PGDX379T2 ID4 inhibitor of DNA binding 4; dominant negative helix-loop-helix protein ENSG00000172201 chr6:19945595-19948894 3,3 Amplification PGDX379T2 FKBP1C FK506 binding protein 1C ENSG00000198225 chr6:63979309-63980888 3,3 Amplification PGDX379T2 MARCKS myristoylated alanine-rich protein kinase C substrate ENSG00000155130 chr6:114285219-114291345 5 Amplification PGDX379T2 STX11 syntaxin 11 ENSG00000135604 chr6:144513346-144554769 3,3 Amplification PGDX379T2 ZC3H12D zinc finger CCCH-type containing 12D ENSG00000178199 chr6:149813484-149847890 3,5 Amplification PGDX379T2 PRR18 proline rich 18 ENSG00000176381 chr6:166639157-166641861 6,5 Amplification PGDX379T2 FAM20C family with sequence similarity 20; member C ENSG00000177706 chr7:288051-304072 3,2 Amplification PGDX379T2 HEATR2 HEAT repeat containing 2 ENSG00000164818 chr7:732863-795716 3 Amplification PGDX379T2 AC144411.2 Uncharacterized protein ENSG00000206016 chr7:788262-789286 3,6 Amplification PGDX379T2 ADAP1 ArfGAP with dual PH domains 1 ENSG00000105963 chr7:904062-960815 3,2 Amplification PGDX379T2 CYP2W1 cytochrome P450; family 2; subfamily W; polypeptide 1 ENSG00000073067 chr7:989360-995802 3,6 Amplification PGDX379T2 MIR339 microRNA 339 ENSG00000199023 chr7:1029094-1029188 4,1 Amplification PGDX379T2 GPR146 G protein-coupled receptor 146 ENSG00000164849 chr7:1061446-1065423 3,1 Amplification PGDX379T2 UNCX UNC homeobox ENSG00000164853 chr7:1239034-1243488 7,7 Amplification PGDX379T2 MICALL2 MICAL-like 2 ENSG00000164877 chr7:1434640-1465635 3,7 Amplification PGDX379T2 INTS1 integrator complex subunit 1 ENSG00000164880 chr7:1476438-1510772 3,5 Amplification PGDX379T2 AC093734.3 MAFK protein ENSG00000215157 chr7:1536866-1549204 5,2 Amplification PGDX379T2 MAFK v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) ENSG00000198517 chr7:1536893-1549205 5,2 Amplification PGDX379T2 TMEM184A Transmembrane protein 184A. ENSG00000215155 chr7:1548396-1562592 3,2 Amplification PGDX379T2 TMEM184A transmembrane protein 184A ENSG00000164855 chr7:1548397-1562592 3,2 Amplification PGDX379T2 ELFN1 extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1 NM_001128636 chr7:1715323-1754116 3,7 Amplification PGDX379T2 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ENSG00000106003 chr7:2518688-2535336 3 Amplification PGDX379T2 TTYH3 tweety homolog 3 (Drosophila) ENSG00000136295 chr7:2638128-2670962 3,4 Amplification PGDX379T2 AMZ1 archaelysin family metallopeptidase 1 ENSG00000174945 chr7:2685688-2721595 3,4 Amplification PGDX379T2 FOXK1 forkhead box K1 ENSG00000164916 chr7:4688455-4777600 3,6 Amplification PGDX379T2 KIAA0415 Uncharacterized protein ENSG00000164917 chr7:4781789-4797925 3,7 Amplification PGDX379T2 TNRC18 trinucleotide repeat containing 18 ENSG00000182095 chr7:5312951-5431571 3,7 Amplification PGDX379T2 FBXL18 F-box and leucine-rich repeat protein 18 ENSG00000155034 chr7:5481953-5523646 3,2 Amplification PGDX379T2 TWIST1 twist homolog 1 (Drosophila) ENSG00000122691 chr7:19121615-19123820 4,2 Amplification PGDX379T2 SP8 Sp8 transcription factor ENSG00000164651 chr7:20788419-20793033 3,4 Amplification PGDX379T2 MIR196B microRNA 196b ENSG00000207584 chr7:27175623-27175708 3,4 Amplification PGDX379T2 POM121L12 POM121 membrane glycoprotein-like 12 (rat) ENSG00000221900 chr7:53070842-53072111 3,6 Amplification PGDX379T2 AC006970.6 Uncharacterized protein ENSG00000185290 chr7:56149868-56151584 4,1 Amplification PGDX379T2 TRIM50 tripartite motif-containing 50 ENSG00000146755 chr7:72364470-72380021 3,1 Amplification PGDX379T2 VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae) ENSG00000176428 chr7:72720109-72724376 6 Amplification PGDX379T2 CLDN3 claudin 3 ENSG00000165215 chr7:72821262-72822536 3,7 Amplification PGDX379T2 AC004491.2 PIKR2786. ENSG00000216575 chr7:75200713-75206216 4,8 Amplification PGDX379T2 BHLHA15 basic helix-loop-helix family; member a15 ENSG00000180535 chr7:97679501-97680207 3,9 Amplification PGDX379T2 ARPC1B actin related protein 2/3 complex; subunit 1B; 41kDa ENSG00000130429 chr7:98810264-98830340 3,2 Amplification PGDX379T2 MBLAC1 metallo-beta-lactamase domain containing 1 ENSG00000214309 chr7:99562252-99564057 3,1 Amplification PGDX379T2 AC005071.1 miRNA ENSG00000222482 chr7:99655585-99655679 4,6 Amplification PGDX379T2 AC069281.6 Sin3A-associated protein, 25kDa ENSG00000205307 chr7:100007790-100009717 3,1 Amplification PGDX379T2 TRIM56 tripartite motif-containing 56 ENSG00000169871 chr7:100515439-100520609 3,2 Amplification PGDX379T2 ALKBH4 alkB; alkylation repair homolog 4 (E. coli) ENSG00000160993 chr7:101883694-101892293 3,4 Amplification PGDX379T2 PRRT4 proline-rich transmembrane protein 4 isoform 2 NM_001114726 chr7:127777614-127788975 3,3 Amplification PGDX379T2 KLRG2 killer cell lectin-like receptor subfamily G; member 2 ENSG00000188883 chr7:138788627-138818997 3,1 Amplification PGDX379T2 TRBJ2-6 T cell receptor beta joining 2-6 ENSG00000211770 chr7:142205050-142205103 3,4 Amplification PGDX379T2 REPIN1 replication initiator 1 ENSG00000214022 chr7:149696811-149702066 3,6 Amplification PGDX379T2 ZNF775 zinc finger protein 775 ENSG00000196456 chr7:149707338-149726652 5,9 Amplification PGDX379T2 GIMAP1 GTPase; IMAP family member 1 ENSG00000213203 chr7:150044630-150049814 3,2 Amplification PGDX379T2 KCNH2 potassium voltage-gated channel; subfamily H (eag-related); member 2 ENSG00000055118 chr7:150272981-150306335 3,2 Amplification PGDX379T2 TMUB1 transmembrane and ubiquitin-like domain containing 1 ENSG00000164897 chr7:150409105-150411553 3,3 Amplification PGDX379T2 WDR86 WD repeat domain 86 ENSG00000187260 chr7:150709139-150738057 3,1 Amplification PGDX379T2 C7orf13 Uncharacterized protein ENSG00000182648 chr7:156125458-156126109 3,5 Amplification PGDX379T2 MNX1 motor neuron and pancreas homeobox 1 ENSG00000130675 chr7:156490307-156496108 4 Amplification PGDX379T2 DNAJB6 DnaJ (Hsp40) homolog; subfamily B; member 6 ENSG00000105993 chr7:156822460-156902894 3,1 Amplification PGDX379T2 MIR596 miR-596 stem-loop MI0003608 chr8:1752803-1752880 3,3 Amplification PGDX379T2 KBTBD11 kelch repeat and BTB (POZ) domain containing 11 ENSG00000176595 chr8:1909450-1942516 5,4 Amplification PGDX379T2 CLDN23 claudin-23 NM_194284 chr8:8597075-8599027 4,2 Amplification PGDX379T2 SOX7 SRY (sex determining region Y)-box 7 ENSG00000171056 chr8:10618687-10625432 3,5 Amplification PGDX379T2 NKX2-6 homeobox protein Nkx-2.6 NM_001136271 chr8:23615909-23619867 3 Amplification PGDX379T2 SCARA5 scavenger receptor class A; member 5 (putative) ENSG00000168079 chr8:27783668-27906117 3,6 Amplification PGDX379T2 ADRB3 adrenergic; beta-3-; receptor ENSG00000188778 chr8:37939671-37943341 3,5 Amplification PGDX379T2 NKX6-3 NK6 homeobox 3 ENSG00000165066 chr8:41622985-41624035 3,3 Amplification PGDX379T2 CEBPD CCAAT/enhancer binding protein (C/EBP); delta ENSG00000221869 chr8:48812028-48813279 3,2 Amplification PGDX379T2 SOX17 SRY (sex determining region Y)-box 17 ENSG00000164736 chr8:55533047-55536009 3,2 Amplification PGDX379T2 TCF24. Transcription factor 24 (Fragment). ENSG00000187728 chr8:68036083-68036515 5,8 Amplification PGDX379T2 C8orf85 chromosome 8 open reading frame 85 ENSG00000205002 chr8:118019644-118025418 3 Amplification PGDX379T2 SLC45A4 solute carrier family 45; member 4 ENSG00000022567 chr8:142290051-142307855 3,5 Amplification PGDX379T2 GPR20 G protein-coupled receptor 20 ENSG00000204882 chr8:142435766-142446547 4,2 Amplification PGDX379T2 PTP4A3 protein tyrosine phosphatase type IVA; member 3 ENSG00000184489 chr8:142501188-142510802 3,7 Amplification PGDX379T2 AC100803.11 Uncharacterized protein ENSG00000184334 chr8:142513826-142517232 3,1 Amplification PGDX379T2 BAI1 brain-specific angiogenesis inhibitor 1 ENSG00000181790 chr8:143542378-143623370 3,6 Amplification PGDX379T2 ARC activity-regulated cytoskeleton-associated protein ENSG00000198576 chr8:143689411-143692835 3,1 Amplification PGDX379T2 PSCA prostate stem cell antigen ENSG00000167653 chr8:143758876-143761144 3,6 Amplification PGDX379T2 C8orf55 chromosome 8 open reading frame 55 ENSG00000130193 chr8:143805622-143815352 3,5 Amplification PGDX379T2 LYPD2 LY6/PLAUR domain containing 2 ENSG00000197353 chr8:143828580-143830954 4 Amplification PGDX379T2 LYNX1 Ly6/neurotoxin 1 ENSG00000180155 chr8:143842757-143856642 3,2 Amplification PGDX379T2 AC083841.9 Uncharacterized protein ENSG00000214749 chr8:143849616-143855746 3,6 Amplification PGDX379T2 LY6H lymphocyte antigen 6 complex; locus H ENSG00000176956 chr8:144310706-144313120 3,4 Amplification PGDX379T2 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ENSG00000182851 chr8:144366442-144370418 3,1 Amplification PGDX379T2 ZNF696 zinc finger protein 696 ENSG00000185730 chr8:144444933-144453495 4,6 Amplification PGDX379T2 RHPN1 rhophilin; Rho GTPase binding protein 1 ENSG00000158106 chr8:144522399-144537533 3,2 Amplification PGDX379T2 MAFA v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) ENSG00000182759 chr8:144582657-144583719 3,3 Amplification PGDX379T2 GSDMD gasdermin D ENSG00000104518 chr8:144706699-144716372 3,3 Amplification PGDX379T2 NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 ENSG00000147813 chr8:144728100-144731651 3,1 Amplification PGDX379T2 EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) ENSG00000104529 chr8:144733040-144750988 3,7 Amplification PGDX379T2 TIGD5 tigger transposable element derived 5 ENSG00000179886 chr8:144751217-144753218 4 Amplification PGDX379T2 FAM83H family with sequence similarity 83; member H ENSG00000180921 chr8:144878090-144887902 3,9 Amplification PGDX379T2 SCRIB scribbled homolog (Drosophila) ENSG00000180900 chr8:144945077-144969537 3,6 Amplification PGDX379T2 MIR937 microRNA 937 ENSG00000216090 chr8:144967114-144967200 6,7 Amplification PGDX379T2 NRBP2 nuclear receptor binding protein 2 ENSG00000185189 chr8:144987903-144996188 3,8 Amplification PGDX379T2 PLEC plectin ENSG00000178209 chr8:145061308-145122901 3,9 Amplification PGDX379T2 MIR661 microRNA 661 ENSG00000207574 chr8:145091346-145091435 5,9 Amplification PGDX379T2 OPLAH 5-oxoprolinase (ATP-hydrolysing) ENSG00000178814 chr8:145178155-145187594 3,6 Amplification PGDX379T2 KIAA1875 WD repeat-containing protein KIAA1875. ENSG00000179698 chr8:145234616-145245206 3,2 Amplification PGDX379T2 SCRT1 scratch homolog 1; zinc finger protein (Drosophila) ENSG00000170616 chr8:145525261-145530751 5,9 Amplification PGDX379T2 AF205589.5 Uncharacterized protein ENSG00000214597 chr8:145547781-145549313 5 Amplification PGDX379T2 ADCK5 aarF domain containing kinase 5 ENSG00000173137 chr8:145568538-145589261 3,5 Amplification PGDX379T2 MIR939 microRNA 939 ENSG00000216133 chr8:145590171-145590253 3,8 Amplification PGDX379T2 FOXH1 forkhead box H1 ENSG00000160973 chr8:145669924-145672526 3,3 Amplification PGDX379T2 PPP1R16A protein phosphatase 1; regulatory (inhibitor) subunit 16A ENSG00000160972 chr8:145686228-145698312 3,5 Amplification PGDX379T2 C8orf82 chromosome 8 open reading frame 82 ENSG00000213563 chr8:145722410-145725266 6,2 Amplification PGDX379T2 ARHGAP39 Rho GTPase activating protein 39 ENSG00000147799 chr8:145725370-145809696 3,5 Amplification PGDX379T2 ZNF517 zinc finger protein 517 ENSG00000197363 chr8:145995064-146005333 3,2 Amplification PGDX379T2 AF235103.4 Uncharacterized protein ENSG00000204752 chr8:146003055-146023229 3,5 Amplification PGDX379T2 TUSC1 tumor suppressor candidate 1 ENSG00000198680 chr9:25666386-25668856 4,3 Amplification PGDX379T2 KIAA1161 Uncharacterized protein ENSG00000164976 chr9:34358906-34366894 3 Amplification PGDX379T2 HRCT1 histidine rich carboxyl terminus 1 ENSG00000196196 chr9:35896188-35897138 4,5 Amplification PGDX379T2 C9orf122 chromosome 9 open reading frame 122 ENSG00000204860 chr9:38611084-38614986 3,5 Amplification PGDX379T2 FOXB2 forkhead box B2 ENSG00000204612 chr9:78824390-78825689 4,3 Amplification PGDX379T2 GAS1 growth arrest-specific 1 ENSG00000180447 chr9:88749096-88751924 3 Amplification PGDX379T2 FOXE1 forkhead box E1 (thyroid transcription factor 2) ENSG00000178919 chr9:99655357-99658818 3,5 Amplification PGDX379T2 LHX6 LIM homeobox 6 ENSG00000106852 chr9:124004676-124031041 4,6 Amplification ST6 (alpha-N-acetyl-neuraminyl-2;3-beta-galactosyl-1;3)-N-acetylgalactosaminide PGDX379T2 ST6GALNAC4 alpha-2;6-sialyltransferase 4 ENSG00000136840 chr9:129709985-129719126 3,7 Amplification PGDX379T2 MIR219-2 microRNA 219-2 ENSG00000207955 chr9:130194717-130194814 4,4 Amplification PGDX379T2 PRRX2 paired related homeobox 2 ENSG00000167157 chr9:131467740-131524772 4,2 Amplification PGDX379T2 FIBCD1 fibrinogen C domain containing 1 ENSG00000130720 chr9:132767646-132804276 3,2 Amplification PGDX379T2 KCNT1 potassium channel; subfamily T; member 1 ENSG00000107147 chr9:137733858-137826386 3,3 Amplification PGDX379T2 NACC2 NACC family member 2; BEN and BTB (POZ) domain containing ENSG00000148411 chr9:138038203-138126952 3,6 Amplification PGDX379T2 C9orf69 Uncharacterized protein NM_152833 chr9:138146247-138150552 4,4 Amplification PGDX379T2 LHX3 LIM homeobox 3 ENSG00000107187 chr9:138227916-138236776 4,1 Amplification PGDX379T2 GPSM1 G-protein signaling modulator 1 (AGS3-like; C. elegans) ENSG00000160360 chr9:138341752-138373878 4,1 Amplification PGDX379T2 NOTCH1 Notch homolog 1; translocation-associated (Drosophila) ENSG00000148400 chr9:138508716-138560135 3,7 Amplification PGDX379T2 MIR126 microRNA 126 ENSG00000199161 chr9:138684874-138684959 3,1 Amplification 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase; PGDX379T2 AGPAT2 beta) ENSG00000169692 chr9:138687415-138701732 5,1 Amplification PGDX379T2 FAM69B family with sequence similarity 69; member B ENSG00000165716 chr9:138726844-138738990 3,1 Amplification PGDX379T2 C9orf172 chromosome 9 open reading frame 172 NM_001080482 chr9:138858687-138861618 4,7 Amplification PGDX379T2 FBXW5 F-box and WD repeat domain containing 5 ENSG00000159069 chr9:138954707-138958994 3,8 Amplification PGDX379T2 CLIC3 chloride intracellular channel 3 ENSG00000169583 chr9:139008880-139010845 4,1 Amplification PGDX379T2 ABCA2 ATP-binding cassette; sub-family A (ABC1); member 2 ENSG00000107331 chr9:139021506-139043195 3,4 Amplification PGDX379T2 NPDC1 neural proliferation; differentiation and control; 1 ENSG00000107281 chr9:139053729-139060497 3,7 Amplification PGDX379T2 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ENSG00000054179 chr9:139062373-139068326 3,4 Amplification PGDX379T2 C9orf140 chromosome 9 open reading frame 140 ENSG00000186193 chr9:139076399-139084861 4,8 Amplification PGDX379T2 DPP7 dipeptidyl-peptidase 7 ENSG00000176978 chr9:139124812-139129016 3,6 Amplification PGDX379T2 LRRC26 leucine rich repeat containing 26 ENSG00000184709 chr9:139183032-139184312 3,8 Amplification PGDX379T2 RNF208 RING finger protein 208. ENSG00000196435 chr9:139234527-139235854 3,2 Amplification PGDX379T2 C9orf167 chromosome 9 open reading frame 167 ENSG00000198113 chr9:139292098-139296914 4,6 Amplification PGDX379T2 NRARP NOTCH-regulated ankyrin repeat protein ENSG00000198435 chr9:139313903-139316524 3,5 Amplification PGDX379T2 MIR602 microRNA 602 ENSG00000207693 chr9:139852691-139852789 9 Amplification PGDX379T2 ADARB2 adenosine deaminase; RNA-specific; B2 (RED2 homolog rat) ENSG00000185736 chr10:1218072-1769718 3,5 Amplification PGDX379T2 CALML5 calmodulin-like 5 ENSG00000178372 chr10:5530657-5531533 3,6 Amplification PGDX379T2 CALML3 calmodulin-like 3 ENSG00000178363 chr10:5556923-5558225 3,5 Amplification PGDX379T2 AL390294.19 Uncharacterized protein ENSG00000197308 chr10:8132418-8135453 3,4 Amplification PGDX379T2 C10orf47 chromosome 10 open reading frame 47 ENSG00000148426 chr10:11905402-11954280 3,7 Amplification PGDX379T2 MIR1915 microRNA 1915 ENSG00000222071 chr10:21825496-21825576 3,3 Amplification PGDX379T2 AL391839.1 miRNA ENSG00000222309 chr10:32675797-32675880 3 Amplification PGDX379T2 FZD8 frizzled homolog 8 (Drosophila) ENSG00000177283 chr10:35967182-35970368 3,3 Amplification PGDX379T2 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 ENSG00000122863 chr10:73394125-73443327 3,2 Amplification PGDX379T2 ZNF503 zinc finger protein 503 ENSG00000165655 chr10:76827610-76831519 4,4 Amplification PGDX379T2 FRAT1 frequently rearranged in advanced T-cell lymphomas ENSG00000165879 chr10:99069011-99071662 3,2 Amplification PGDX379T2 FRAT2 frequently rearranged in advanced T-cell lymphomas 2 ENSG00000181274 chr10:99082243-99084456 4,9 Amplification PGDX379T2 UBTD1 ubiquitin domain containing 1 ENSG00000165886 chr10:99248757-99320950 3,1 Amplification PGDX379T2 ADRA2A adrenergic; alpha-2A-; receptor ENSG00000150594 chr10:112826910-112830560 3,3 Amplification PGDX379T2 ADRB1 adrenergic; beta-1-; receptor ENSG00000043591 chr10:115793795-115796657 3,1 Amplification PGDX379T2 PRLHR prolactin releasing hormone receptor ENSG00000119973 chr10:120342905-120345150 3,7 Amplification PGDX379T2 NANOS1 nanos homolog 1 (Drosophila) ENSG00000188613 chr10:120779217-120783844 5,2 Amplification PGDX379T2 FOXI2 forkhead box I2 ENSG00000186766 chr10:129425503-129429440 3,6 Amplification PGDX379T2 DPYSL4 dihydropyrimidinase-like 4 ENSG00000151640 chr10:133850393-133869270 4 Amplification PGDX379T2 PWWP2B PWWP domain containing 2B ENSG00000171813 chr10:134060661-134081357 3,4 Amplification PGDX379T2 AL451069.34 Uncharacterized protein ENSG00000197735 chr10:134087171-134094155 3,4 Amplification PGDX379T2 NKX6-2 NK6 homeobox 2 ENSG00000148826 chr10:134448309-134449527 4,3 Amplification PGDX379T2 AL691429.17 Novel protein ENSG00000203775 chr10:134582821-134588240 3,1 Amplification PGDX379T2 GPR123 G protein-coupled receptor 123 ENSG00000197177 chr10:134734422-134795169 3,4 Amplification PGDX379T2 UTF1 undifferentiated embryonic cell transcription factor 1 ENSG00000171794 chr10:134893767-134895052 6,3 Amplification PGDX379T2 ADAM8 ADAM metallopeptidase domain 8 ENSG00000151651 chr10:134925911-134940362 3,5 Amplification PGDX379T2 AL161645.14 cDNA FLJ44759 fis, clone ENSG00000214279 chr10:135121771-135131941 3,1 Amplification PGDX379T2 IFITM5 interferon induced transmembrane protein 5 ENSG00000206013 chr11:288202-289526 3,7 Amplification PGDX379T2 B4GALNT4 beta-1;4-N-acetyl-galactosaminyl transferase 4 ENSG00000182272 chr11:359794-372116 4,3 Amplification PGDX379T2 ANO9 anoctamin 9 ENSG00000185101 chr11:407929-432011 3,3 Amplification PGDX379T2 RNH1 ribonuclease/angiogenin inhibitor 1 ENSG00000023191 chr11:484511-497273 4 Amplification PGDX379T2 MIR210 miR-210 stem-loop MI0000286 chr11:558088-558198 10,5 Amplification PGDX379T2 SCT secretin ENSG00000070031 chr11:616312-617173 7,5 Amplification PGDX379T2 AP006284.2 Uncharacterized protein ENSG00000215211 chr11:617012-627413 7,2 Amplification PGDX379T2 DRD4 dopamine receptor D4 ENSG00000069696 chr11:627304-630703 5,6 Amplification PGDX379T2 EPS8L2 EPS8-like 2 ENSG00000177106 chr11:696112-717726 3,8 Amplification PGDX379T2 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate); member 22 ENSG00000177542 chr11:780474-786221 3,8 Amplification PGDX379T2 PNPLA2 patatin-like phospholipase domain containing 2 ENSG00000177666 chr11:808901-815217 3,2 Amplification PGDX379T2 POLR2L polymerase (RNA) II (DNA directed) polypeptide L; 7.6kDa ENSG00000177700 chr11:829721-832529 3,7 Amplification PGDX379T2 TSPAN4 tetraspanin 4 ENSG00000214063 chr11:832811-857116 3 Amplification PGDX379T2 AP006623.1 cDNA FLJ44492 fis, clone UTERU2035331. ENSG00000177769 chr11:837196-857109 3 Amplification PGDX379T2 TOLLIP toll interacting protein ENSG00000078902 chr11:1252176-1287428 3,1 Amplification PGDX379T2 BRSK2 BR serine/threonine kinase 2 ENSG00000174672 chr11:1367704-1439904 3,4 Amplification PGDX379T2 KRTAP5-1 keratin associated protein 5-1 ENSG00000205869 chr11:1562147-1563089 3,6 Amplification PGDX379T2 C11orf89 chromosome 11 open reading frame 89 ENSG00000184682 chr11:1866950-1868660 3,1 Amplification PGDX379T2 IGF2 insulin-like growth factor 2 (somatomedin A) ENSG00000167244 chr11:2106917-2127409 3,2 Amplification PGDX379T2 IGF2AS insulin-like growth factor 2 antisense ENSG00000099869 chr11:2118312-2126470 4,4 Amplification PGDX379T2 ASCL2 achaete-scute complex homolog 2 (Drosophila) ENSG00000183734 chr11:2246303-2248758 5 Amplification PGDX379T2 TRPM5 transient receptor potential cation channel; subfamily M; member 5 ENSG00000070985 chr11:2382321-2400851 3,1 Amplification PGDX379T2 CDKN1C cyclin-dependent kinase inhibitor 1C (p57; Kip2) ENSG00000129757 chr11:2861018-2863571 5,1 Amplification PGDX379T2 SLC22A18 solute carrier family 22; member 18 ENSG00000110628 chr11:2877526-2903052 3,4 Amplification PGDX379T2 MRGPRG MAS-related GPR; member G ENSG00000182170 chr11:3195749-3196619 4 Amplification PGDX379T2 RBMXL2 RNA binding motif protein; X-linked-like 2 ENSG00000170748 chr11:7066740-7068955 4,3 Amplification PGDX379T2 C11orf96 protein Ag2 homolog NM_001145033 chr11:43920681-43922008 3,6 Amplification PGDX379T2 AC087521.10 Protein Ag2 homolog. ENSG00000187479 chr11:43920715-43922008 3,5 Amplification PGDX379T2 CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 ENSG00000175264 chr11:45627002-45643748 3,7 Amplification PGDX379T2 SPI1 spleen focus forming virus (SFFV) proviral integration oncogene spi1 ENSG00000066336 chr11:47332984-47356703 3,2 Amplification PGDX379T2 C1QTNF4 C1q and tumor necrosis factor related protein 4 ENSG00000172247 chr11:47567791-47572537 6 Amplification PGDX379T2 GPR44 G protein-coupled receptor 44 ENSG00000183134 chr11:60374973-60380020 5 Amplification PGDX379T2 LRRC10B leucine rich repeat containing 10B ENSG00000204950 chr11:61033112-61033838 4 Amplification PGDX379T2 LRRN4CL LRRN4 C-terminal like ENSG00000177363 chr11:62210449-62213776 3,4 Amplification PGDX379T2 RPS6KA4 ribosomal protein S6 kinase; 90kDa; polypeptide 4 ENSG00000162302 chr11:63883200-63896263 3,7 Amplification PGDX379T2 FRMD8 FERM domain containing 8 ENSG00000126391 chr11:64910616-64937571 3 Amplification PGDX379T2 AP001362.5 Uncharacterized protein ENSG00000204674 chr11:65149253-65149625 3,1 Amplification PGDX379T2 GAL3ST3 galactose-3-O-sulfotransferase 3 ENSG00000175229 chr11:65564811-65573227 5 Amplification PGDX379T2 TMEM151A transmembrane protein 151A ENSG00000179292 chr11:65815916-65820709 4,4 Amplification PGDX379T2 ZDHHC24 zinc finger; DHHC-type containing 24 ENSG00000174165 chr11:66063310-66070247 3,1 Amplification PGDX379T2 RHOD ras homolog gene family; member D ENSG00000173156 chr11:66580864-66596063 3,1 Amplification PGDX379T2 PTPRCAP protein tyrosine phosphatase; receptor type; C-associated protein ENSG00000213402 chr11:66959556-66961729 3,4 Amplification PGDX379T2 TMEM134 transmembrane protein 134 ENSG00000172663 chr11:66988394-66993319 3,3 Amplification PGDX379T2 PITPNM1 phosphatidylinositol transfer protein; membrane-associated 1 ENSG00000110697 chr11:67015815-67029419 3,2 Amplification PGDX379T2 CABP2 calcium binding protein 2 ENSG00000167791 chr11:67042993-67047475 3,2 Amplification PGDX379T2 ALDH3B1 aldehyde dehydrogenase 3 family; member B1 ENSG00000006534 chr11:67534365-67552183 3 Amplification PGDX379T2 LRP5 low density lipoprotein receptor-related protein 5 ENSG00000162337 chr11:67836683-67973319 3,1 Amplification PGDX379T2 MRGPRF MAS-related GPR; member F ENSG00000172935 chr11:68528437-68537426 3,2 Amplification fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) PGDX379T2 FGF3 oncogene homolog) ENSG00000186895 chr11:69333916-69343129 3,5 Amplification PGDX379T2 PHOX2A paired-like homeobox 2a ENSG00000165462 chr11:71627768-71632868 3,5 Amplification PGDX379T2 KLHL35 kelch-like protein 35 NM_001039548 chr11:74811087-74819322 3,2 Amplification PGDX379T2 B3GNT6 UDP-GlcNAc:betaGal beta-1;3-N-acetylglucosaminyltransferase 6 (core 3 synthase) ENSG00000198488 chr11:76423082-76430651 3,6 Amplification PGDX379T2 FAM181B family with sequence similarity 181; member B ENSG00000182103 chr11:82120693-82122554 3,9 Amplification PGDX379T2 C11orf75 chromosome 11 open reading frame 75 ENSG00000166002 chr11:92851286-92916194 3,6 Amplification PGDX379T2 NRGN neurogranin (protein kinase C substrate; RC3) ENSG00000154146 chr11:124114951-124122312 5,6 Amplification PGDX379T2 B3GAT1 beta-1;3-glucuronyltransferase 1 (glucuronosyltransferase P) ENSG00000109956 chr11:133753607-133787022 3,3 Amplification PGDX379T2 LPAR5 lysophosphatidic acid receptor 5 ENSG00000184574 chr12:6598261-6615558 3,9 Amplification PGDX379T2 C12orf33. Uncharacterized protein ENSG00000214851 chr12:9101400-9108939 3,1 Amplification PGDX379T2 H1FNT H1 histone family; member N; testis-specific ENSG00000187166 chr12:47009029-47010329 4 Amplification PGDX379T2 C1QL4 complement component 1; q subcomponent-like 4 ENSG00000186897 chr12:48012460-48017238 4,2 Amplification PGDX379T2 AQP5 aquaporin 5 ENSG00000161798 chr12:48641545-48645728 3,1 Amplification PGDX379T2 FIGNL2 fidgetin-like 2 ENSG00000205432 chr12:50499831-50502482 4,2 Amplification PGDX379T2 HOXC12 homeobox C12 ENSG00000123407 chr12:52634980-52636617 3,4 Amplification PGDX379T2 ASCL1 achaete-scute complex homolog 1 (Drosophila) ENSG00000139352 chr12:101875581-101878424 3,5 Amplification PGDX379T2 ASCL4 achaete-scute complex homolog 4 (Drosophila) ENSG00000187855 chr12:106692291-106694525 4,3 Amplification PGDX379T2 C12orf34 chromosome 12 open reading frame 34 ENSG00000139438 chr12:108656954-108692682 3,1 Amplification PGDX379T2 FAM109A family with sequence similarity 109; member A ENSG00000198324 chr12:110282865-110291308 3,4 Amplification PGDX379T2 LHX5 LIM homeobox 5 ENSG00000089116 chr12:112385076-112394260 3,3 Amplification PGDX379T2 MAP1LC3B2 microtubule-associated protein 1 light chain 3 beta 2 ENSG00000171471 chr12:115481568-115498808 4,2 Amplification PGDX379T2 HRK harakiri; BCL2 interacting protein (contains only BH3 domain) ENSG00000135116 chr12:115783409-115803615 7,1 Amplification PGDX379T2 ORAI1 ORAI calcium release-activated calcium modulator 1 ENSG00000182500 chr12:120548837-120564329 3 Amplification PGDX379T2 SETD1B SET domain containing 1B ENSG00000139718 chr12:120741759-120754944 3,5 Amplification PGDX379T2 FAM101A family with sequence similarity 101; member A ENSG00000178882 chr12:123339662-123366521 3,2 Amplification PGDX379T2 NCOR2 nuclear receptor co-repressor 2 ENSG00000196498 chr12:123374913-123586102 3,1 Amplification PGDX379T2 BRI3BP BRI3 binding protein ENSG00000184992 chr12:124044146-124076302 3,1 Amplification PGDX379T2 MMP17 matrix metallopeptidase 17 (membrane-inserted) ENSG00000198598 chr12:130878890-130902269 3,7 Amplification PGDX379T2 ULK1 unc-51-like kinase 1 (C. elegans) ENSG00000177169 chr12:130945231-130973659 3,4 Amplification PGDX379T2 NOC4L nucleolar complex associated 4 homolog (S. cerevisiae) ENSG00000184967 chr12:131194945-131202939 3,2 Amplification UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase PGDX379T2 GALNT9 9 (GalNAc-T9) ENSG00000182870 chr12:131246869-131415978 3,2 Amplification PGDX379T2 FBRSL1 fibrosin-like 1 ENSG00000112787 chr12:131657120-131670437 3,5 Amplification PGDX379T2 PXMP2 peroxisomal membrane protein 2; 22kDa ENSG00000176894 chr12:131797508-131805825 3,3 Amplification PGDX379T2 PDX1 pancreatic and duodenal homeobox 1 ENSG00000139515 chr13:27392156-27398451 3,3 Amplification PGDX379T2 PRHOXNB parahox cluster neighbor ENSG00000183463 chr13:27450242-27460774 3,2 Amplification PGDX379T2 A2LD1 AIG2-like domain 1 ENSG00000134864 chr13:99980519-100039047 4,5 Amplification PGDX379T2 IRS2 insulin receptor substrate 2 ENSG00000185950 chr13:109204184-109236916 4,3 Amplification PGDX379T2 SOX1 SRY (sex determining region Y)-box 1 ENSG00000182968 chr13:111769913-111774021 8,2 Amplification PGDX379T2 AL137002.19 CDNA FLJ25170 fis, clone CBR08752. ENSG00000215362 chr13:112794930-112800630 4,1 Amplification PGDX379T2 GAS6 growth arrest-specific protein 6 isoform 2 NM_001143945 chr13:113574925-113590419 3,1 Amplification PGDX379T2 FAM70B family with sequence similarity 70; member B ENSG00000184497 chr13:113599043-113651873 3,2 Amplification PGDX379T2 ZNF219 zinc finger protein 219 ENSG00000165804 chr14:20628044-20642703 3,3 Amplification PGDX379T2 TMEM229B transmembrane protein 229B ENSG00000198133 chr14:66983553-67051955 3,5 Amplification PGDX379T2 VSX2 visual system homeobox 2 ENSG00000119614 chr14:73775927-73799194 3,5 Amplification PGDX379T2 C14orf4 chromosome 14 open reading frame 4 ENSG00000119669 chr14:76560638-76564787 3,1 Amplification PGDX379T2 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) ENSG00000127152 chr14:98705376-98807614 4,2 Amplification PGDX379T2 CCDC85C coiled-coil domain containing 85C ENSG00000205476 chr14:99047356-99140480 3,5 Amplification PGDX379T2 DEGS2 degenerative spermatocyte homolog 2; lipid desaturase (Drosophila) ENSG00000168350 chr14:99682505-99695765 3,4 Amplification PGDX379T2 SLC25A29 solute carrier family 25; member 29 ENSG00000197119 chr14:99827200-99842613 3,6 Amplification PGDX379T2 BEGAIN brain-enriched guanylate kinase-associated homolog (rat) ENSG00000183092 chr14:100073238-100105884 3,7 Amplification PGDX379T2 MIR431 microRNA 431 ENSG00000208001 chr14:100417096-100417210 4 Amplification PGDX379T2 MIR1247 microRNA 1247 ENSG00000221133 chr14:101096376-101096512 6,5 Amplification PGDX379T2 ANKRD9 ankyrin repeat domain 9 ENSG00000156381 chr14:102042950-102045881 6,5 Amplification PGDX379T2 AMN amnionless homolog (mouse) ENSG00000166126 chr14:102458745-102467282 3,4 Amplification PGDX379T2 TRMT61A tRNA methyltransferase 61 homolog A (S. cerevisiae) ENSG00000166166 chr14:103065261-103073163 3,3 Amplification PGDX379T2 MIR203 miR-203a stem-loop MI0000283 chr14:103653494-103653604 5,4 Amplification PGDX379T2 KIF26A kinesin family member 26A ENSG00000066735 chr14:103701971-103716988 3,5 Amplification PGDX379T2 JAG2 jagged 2 ENSG00000184916 chr14:104679120-104706206 3,8 Amplification PGDX379T2 MTA1 metastasis associated 1 ENSG00000182979 chr14:104957201-105008111 3,3 Amplification PGDX379T2 CRIP2 cysteine-rich protein 2 ENSG00000182809 chr14:105012175-105017545 3,9 Amplification PGDX379T2 TMEM121 transmembrane protein 121 ENSG00000184986 chr14:105063997-105067584 3,7 Amplification PGDX379T2 AC004460.1 miRNA ENSG00000221379 chr15:28880800-28880883 3,9 Amplification PGDX379T2 KLF13 Kruppel-like factor 13 ENSG00000169926 chr15:29406374-29457394 5,7 Amplification PGDX379T2 C15orf56 chromosome 15 open reading frame 56 ENSG00000176753 chr15:38330159-38332402 4,1 Amplification PGDX379T2 ITPKA inositol 1;4;5-trisphosphate 3-kinase A ENSG00000137825 chr15:39573364-39583039 3,1 Amplification PGDX379T2 C2CD4B C2 calcium-dependent domain containing 4B ENSG00000205502 chr15:60243028-60244774 3,9 Amplification PGDX379T2 KBTBD13 kelch repeat and BTB domain-containing protein 13 NM_001101362 chr15:63156206-63157583 4,1 Amplification PGDX379T2 SMAD6 SMAD family member 6 ENSG00000137834 chr15:64781687-64861389 3,5 Amplification PGDX379T2 ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 ENSG00000167178 chr15:72208767-72216196 3,1 Amplification PGDX379T2 RPP25 ribonuclease P/MRP 25kDa subunit ENSG00000178718 chr15:73033809-73036858 3,7 Amplification PGDX379T2 MESDC1 mesoderm development candidate 1 ENSG00000140406 chr15:79080349-79083400 4,1 Amplification PGDX379T2 MEX3B mex-3 homolog B (C. elegans) ENSG00000183496 chr15:80121182-80125416 3,1 Amplification PGDX379T2 AC026956.1 miRNA ENSG00000222521 chr15:80123690-80123772 3,5 Amplification PGDX379T2 MIR1469 microRNA 1469 ENSG00000222651 chr15:94677493-94677540 4,7 Amplification PGDX379T2 HBM hemoglobin; mu ENSG00000206177 chr16:155972-156767 4,6 Amplification PGDX379T2 HBQ1 hemoglobin; theta 1 ENSG00000086506 chr16:170334-171178 4,8 Amplification PGDX379T2 ARHGDIG Rho GDP-dissociation inhibitor 3 (Rho GDI 3) (Rho-GDI gamma). ENSG00000206156 chr16:270606-273004 3,6 Amplification PGDX379T2 TMEM8A transmembrane protein 8A ENSG00000129925 chr16:360776-371979 3,4 Amplification PGDX379T2 SOLH small optic lobes homolog (Drosophila) ENSG00000103326 chr16:517856-544637 4,8 Amplification PGDX379T2 C16orf11 chromosome 16 open reading frame 11 ENSG00000161992 chr16:550422-558420 3,5 Amplification PGDX379T2 PIGQ phosphatidylinositol glycan anchor biosynthesis; class Q ENSG00000007541 chr16:557011-574110 3,1 Amplification PGDX379T2 RAB40C RAB40C; member RAS oncogene family ENSG00000197562 chr16:580176-619273 3,9 Amplification PGDX379T2 WFIKKN1 WAP; follistatin/kazal; immunoglobulin; kunitz and netrin domain containing 1 ENSG00000127578 chr16:620932-624117 4,3 Amplification PGDX379T2 WDR90 WD repeat domain 90 ENSG00000161996 chr16:639363-657830 3 Amplification PGDX379T2 RHBDL1 rhomboid; veinlet-like 1 (Drosophila) ENSG00000103269 chr16:665791-668268 3,6 Amplification PGDX379T2 WDR24 WD repeat domain 24 ENSG00000127580 chr16:674622-680445 3,1 Amplification PGDX379T2 FBXL16 F-box and leucine-rich repeat protein 16 ENSG00000127585 chr16:682500-695830 4,5 Amplification PGDX379T2 METRN meteorin; glial cell differentiation regulator ENSG00000103260 chr16:705173-707481 3,8 Amplification PGDX379T2 FAM173A family with sequence similarity 173; member A ENSG00000103254 chr16:710581-712591 3,3 Amplification PGDX379T2 MSLNL mesothelin-like ENSG00000162006 chr16:759428-772927 3,4 Amplification PGDX379T2 MIR662 microRNA 662 ENSG00000207579 chr16:760183-760278 6,6 Amplification PGDX379T2 RPUSD1 RNA pseudouridylate synthase domain containing 1 ENSG00000007376 chr16:774974-778384 3,2 Amplification PGDX379T2 CHTF18 CTF18; chromosome transmission fidelity factor 18 homolog (S. cerevisiae) ENSG00000127586 chr16:778046-788073 3,2 Amplification PGDX379T2 GNG13 guanine nucleotide binding protein (G protein); gamma 13 ENSG00000127588 chr16:788041-790734 3,3 Amplification PGDX379T2 SOX8 SRY (sex determining region Y)-box 8 ENSG00000005513 chr16:971808-976979 5,5 Amplification PGDX379T2 SSTR5 somatostatin receptor 5 ENSG00000162009 chr16:1062756-1071438 3,7 Amplification PGDX379T2 C1QTNF8 C1q and tumor necrosis factor related protein 8 ENSG00000184471 chr16:1078226-1086245 3,9 Amplification PGDX379T2 CACNA1H calcium channel; voltage-dependent; T type; alpha 1H subunit ENSG00000196557 chr16:1143738-1211772 3,6 Amplification PGDX379T2 TPSG1 tryptase gamma 1 ENSG00000116176 chr16:1211652-1215257 3,3 Amplification PGDX379T2 TPSD1 tryptase delta 1 ENSG00000095917 chr16:1246060-1248610 3,7 Amplification PGDX379T2 AC120498.2 Uncharacterized protein ENSG00000196364 chr16:1247043-1266749 3,1 Amplification PGDX379T2 UNKL RING finger protein unkempt-like. ENSG00000059145 chr16:1353206-1404701 3,8 Amplification PGDX379T2 CCDC154 coiled-coil domain containing 154 ENSG00000197599 chr16:1424386-1434558 3,7 Amplification PGDX379T2 CLCN7 chloride channel 7 ENSG00000103249 chr16:1434935-1465086 3,1 Amplification PGDX379T2 TELO2 TEL2; telomere maintenance 2; homolog (S. cerevisiae) ENSG00000100726 chr16:1483352-1500460 3,1 Amplification PGDX379T2 TMEM204 transmembrane protein 204 ENSG00000131634 chr16:1523658-1545578 3,2 Amplification PGDX379T2 Z97652.9 Uncharacterized protein ENSG00000206061 chr16:1600163-1602810 3,1 Amplification PGDX379T2 NME3 non-metastatic cells 3; protein expressed in ENSG00000103024 chr16:1760321-1761711 4,2 Amplification PGDX379T2 EME2 essential meiotic endonuclease 1 homolog 2 (S. pombe) ENSG00000197774 chr16:1763229-1770629 3,3 Amplification PGDX379T2 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ENSG00000162032 chr16:1766713-1772582 3,2 Amplification PGDX379T2 IGFALS insulin-like growth factor binding protein; acid labile subunit ENSG00000099769 chr16:1780416-1783735 3,4 Amplification PGDX379T2 HAGH hydroxyacylglutathione hydrolase ENSG00000063854 chr16:1799104-1817196 3 Amplification PGDX379T2 HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 ENSG00000162040 chr16:1901464-1908325 5,5 Amplification PGDX379T2 NOXO1 NADPH oxidase organizer 1 ENSG00000196408 chr16:1968918-1971551 3,8 Amplification PGDX379T2 SYNGR3 synaptogyrin 3 ENSG00000127561 chr16:1979968-1984277 3,7 Amplification PGDX379T2 ZNF598 zinc finger protein 598 ENSG00000167962 chr16:1987768-1999745 3,2 Amplification PGDX379T2 NPW neuropeptide W ENSG00000183971 chr16:2009521-2010757 3,8 Amplification PGDX379T2 SLC9A3R2 solute carrier family 9 (sodium/hydrogen exchanger); member 3 regulator 2 ENSG00000065054 chr16:2016888-2029028 3,8 Amplification PGDX379T2 NTHL1 nth endonuclease III-like 1 (E. coli) ENSG00000065057 chr16:2029816-2037868 3 Amplification PGDX379T2 PKD1 polycystic kidney disease 1 (autosomal dominant) ENSG00000008710 chr16:2078711-2125900 3,3 Amplification PGDX379T2 MIR1225 microRNA 1225 ENSG00000221656 chr16:2080196-2080286 4,7 Amplification PGDX379T2 CASKIN1 CASK interacting protein 1 ENSG00000167971 chr16:2167184-2186466 3,6 Amplification PGDX379T2 C16orf79 chromosome 16 open reading frame 79 ENSG00000182685 chr16:2199254-2201012 3,5 Amplification PGDX379T2 E4F1 E4F transcription factor 1 ENSG00000167967 chr16:2213567-2225744 3,2 Amplification PGDX379T2 DNASE1L2 deoxyribonuclease I-like 2 ENSG00000167968 chr16:2226468-2228713 4,4 Amplification PGDX379T2 TBC1D24 TBC1 domain family; member 24 ENSG00000162065 chr16:2465147-2493489 3,1 Amplification PGDX379T2 AMDHD2 amidohydrolase domain containing 2 ENSG00000162066 chr16:2510363-2519732 3,5 Amplification PGDX379T2 PRSS27 protease; serine 27 ENSG00000172382 chr16:2702423-2710553 3,1 Amplification PGDX379T2 PRSS33 protease; serine; 33 ENSG00000103355 chr16:2773954-2777451 3,3 Amplification PGDX379T2 KREMEN2 kringle containing transmembrane protein 2 ENSG00000131650 chr16:2954217-2958382 4,1 Amplification PGDX379T2 PAQR4 progestin and adipoQ receptor family member IV ENSG00000162073 chr16:2959342-2963486 3,1 Amplification PGDX379T2 ZNF205 zinc finger protein 205 ENSG00000122386 chr16:3102563-3110519 3,7 Amplification PGDX379T2 GLIS2 GLIS family zinc finger 2 ENSG00000126603 chr16:4304762-4329599 3,2 Amplification PGDX379T2 CORO7 coronin 7 ENSG00000103426 chr16:4344543-4406640 3,4 Amplification PGDX379T2 VASN vasorin ENSG00000168140 chr16:4361849-4373530 3,8 Amplification PGDX379T2 FAM100A family with sequence similarity 100; member A ENSG00000153443 chr16:4598884-4604928 3,6 Amplification PGDX379T2 NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 ENSG00000168101 chr16:4683716-4685857 3,9 Amplification PGDX379T2 SOCS1 suppressor of cytokine signaling 1 ENSG00000185338 chr16:11255774-11257540 3,3 Amplification PGDX379T2 ITPRIPL2 inositol 1;4;5-triphosphate receptor interacting protein-like 2 ENSG00000205730 chr16:19032754-19040449 3 Amplification PGDX379T2 SBK1 SH3-binding domain kinase 1 ENSG00000188322 chr16:28211340-28242671 4,9 Amplification PGDX379T2 QPRT quinolinate phosphoribosyltransferase ENSG00000103485 chr16:29597937-29616815 3,3 Amplification PGDX379T2 C16orf54 chromosome 16 open reading frame 54 ENSG00000185905 chr16:29661286-29664841 3,1 Amplification PGDX379T2 ZNF747 zinc finger protein 747 ENSG00000169955 chr16:30449188-30453740 3,3 Amplification PGDX379T2 ZNF764 zinc finger protein 764 ENSG00000169951 chr16:30472585-30477175 3,9 Amplification PGDX379T2 FBXL19 F-box and leucine-rich repeat protein 19 ENSG00000099364 chr16:30842918-30867605 3 Amplification PGDX379T2 ZNF668 zinc finger protein 668 ENSG00000167394 chr16:30979671-30993005 3,2 Amplification PGDX379T2 COX6A2 cytochrome c oxidase subunit VIa polypeptide 2 ENSG00000156885 chr16:31346555-31347222 6,7 Amplification PGDX379T2 AC135776.3 Uncharacterized protein ENSG00000179755 chr16:34113872-34116095 4,8 Amplification PGDX379T2 IRX5 iroquois homeobox 5 ENSG00000176842 chr16:53522611-53525898 3,4 Amplification PGDX379T2 MIR138-2 miR-138-2 stem-loop MI0000455 chr16:55449930-55450014 3 Amplification PGDX379T2 CCDC102A coiled-coil domain containing 102A ENSG00000135736 chr16:56103592-56127978 3,9 Amplification PGDX379T2 ZNF319 zinc finger protein 319 ENSG00000166188 chr16:56586073-56591263 4,1 Amplification PGDX379T2 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 NM_033309 chr16:65739505-65742403 3,7 Amplification PGDX379T2 AC099521.2 cDNA FLJ41951 fis, clone PROST1000528. ENSG00000214388 chr16:66940886-66944016 3,4 Amplification PGDX379T2 SMPD3 sphingomyelin phosphodiesterase 3; neutral membrane (neutral sphingomyelinase II) ENSG00000103056 chr16:66949732-67039910 3 Amplification PGDX379T2 EXOSC6 Exosome complex exonuclease MTR3 ENSG00000157344 chr16:68838181-68843334 3,4 Amplification PGDX379T2 MTSS1L metastasis suppressor 1-like ENSG00000132613 chr16:69252607-69277455 3,5 Amplification PGDX379T2 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 ENSG00000183196 chr16:74064522-74086783 5 Amplification PGDX379T2 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 ENSG00000135702 chr16:74119928-74126569 3,9 Amplification PGDX379T2 WWOX WW domain-containing oxidoreductase isoform 3 NM_130844 chr16:76691051-76691596 4,2 Amplification PGDX379T2 KIAA0182 Uncharacterized protein ENSG00000131149 chr16:84202523-84267311 3,1 Amplification PGDX379T2 FBXO31 F-box protein 31 ENSG00000103264 chr16:85920444-85974895 3,6 Amplification PGDX379T2 JPH3 junctophilin 3 ENSG00000154118 chr16:86193999-86289263 4 Amplification PGDX379T2 ZFPM1 zinc finger protein; multitype 1 ENSG00000179588 chr16:87047225-87129075 3,7 Amplification PGDX379T2 CYBA cytochrome b-245; alpha polypeptide ENSG00000051523 chr16:87237197-87244958 4,2 Amplification PGDX379T2 MVD mevalonate (diphospho) decarboxylase ENSG00000167508 chr16:87245848-87257019 3,4 Amplification PGDX379T2 RNF166 ring finger protein 166 ENSG00000158717 chr16:87290409-87300312 3,9 Amplification PGDX379T2 CDT1 chromatin licensing and DNA replication factor 1 ENSG00000167513 chr16:87397686-87403167 3,3 Amplification PGDX379T2 CBFA2T3 core-binding factor; runt domain; alpha subunit 2; translocated to; 3 ENSG00000129993 chr16:87468767-87570902 3,4 Amplification PGDX379T2 CDH15 cadherin 15; type 1; M-cadherin (myotubule) ENSG00000129910 chr16:87765663-87789401 3,8 Amplification PGDX379T2 CPNE7 copine VII ENSG00000178773 chr16:88169676-88191155 3,6 Amplification PGDX379T2 C16orf7 chromosome 16 open reading frame 7 ENSG00000075399 chr16:88301041-88314895 3,3 Amplification PGDX379T2 FAM101B family with sequence similarity 101; member B ENSG00000183688 chr17:290007-295959 4,6 Amplification PGDX379T2 BHLHA9 basic helix-loop-helix family; member a9 ENSG00000205899 chr17:1120602-1121504 5,1 Amplification PGDX379T2 TLCD2 TLC domain containing 2 ENSG00000185561 chr17:1557819-1560412 3,4 Amplification PGDX379T2 RTN4RL1 reticulon 4 receptor-like 1 ENSG00000185924 chr17:1786539-1787865 3,2 Amplification PGDX379T2 HIC1 hypermethylated in cancer 1 ENSG00000177374 chr17:1905142-1909731 4,1 Amplification PGDX379T2 KIAA0664 Uncharacterized protein ENSG00000132361 chr17:2539429-2554594 3,1 Amplification PGDX379T2 RNF222 ring finger protein 222 ENSG00000189051 chr17:8234749-8241869 3,3 Amplification PGDX379T2 HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 ENSG00000153976 chr17:13339730-13445969 4,2 Amplification PGDX379T2 EVPLL envoplakin-like ENSG00000214860 chr17:18221803-18233686 3,8 Amplification PGDX379T2 GRAP GRB2-related adaptor protein ENSG00000154016 chr17:18864714-18891061 5,3 Amplification PGDX379T2 MIR1180 microRNA 1180 ENSG00000221540 chr17:19188411-19188480 10,4 Amplification PGDX379T2 PYY3 peptide YY; 3 ENSG00000181977 chr17:23578460-23578647 3,6 Amplification PGDX379T2 MIR193A microRNA 193a ENSG00000207614 chr17:26911127-26911215 5,1 Amplification PGDX379T2 GJD3 gap junction protein; delta 3; 31.9kDa ENSG00000183153 chr17:35770760-35773593 4,2 Amplification PGDX379T2 IGFBP4 insulin-like growth factor binding protein 4 ENSG00000141753 chr17:35853201-35867508 3,2 Amplification PGDX379T2 KRTAP4-12 keratin associated protein 4-12 ENSG00000213416 chr17:36532868-36533945 3,1 Amplification PGDX379T2 KRTAP4-6 keratin associated protein 4-6 ENSG00000198090 chr17:36549210-36550265 3,5 Amplification PGDX379T2 KRTAP17-1 keratin associated protein 17-1 ENSG00000186860 chr17:36724694-36725473 3,2 Amplification PGDX379T2 C1QL1 C1q-related factor precursor (Complement component 1 Q subcomponent- like 1). ENSG00000131094 chr17:40392586-40401170 3,3 Amplification PGDX379T2 ARHGAP27 Rho GTPase activating protein 27 ENSG00000159314 chr17:40862501-40866902 4,6 Amplification PGDX379T2 RPRML reprimo-like ENSG00000179673 chr17:42410521-42411613 3,6 Amplification PGDX379T2 SP6 Sp6 transcription factor ENSG00000189120 chr17:43277278-43288239 3,3 Amplification PGDX379T2 HOXB3 homeobox B3 ENSG00000120093 chr17:43981230-44006809 4 Amplification PGDX379T2 HOXB4 homeobox B4 ENSG00000182742 chr17:44007867-44010742 3,6 Amplification PGDX379T2 NGFR nerve growth factor receptor ENSG00000064300 chr17:44927653-44947371 4,2 Amplification PGDX379T2 LIMD2 LIM domain containing 2 ENSG00000136490 chr17:59126980-59131251 4 Amplification PGDX379T2 BTBD17 BTB (POZ) domain containing 17 ENSG00000204347 chr17:69864149-69869553 3,1 Amplification PGDX379T2 FAM100B family with sequence similarity 100; member B ENSG00000185262 chr17:71772880-71778974 10,2 Amplification PGDX379T2 AC021534.1 Uncharacterized protein ENSG00000167281 chr17:74597021-74990275 3,8 Amplification PGDX379T2 CBX4 chromobox homolog 4 (Pc class homolog; Drosophila) ENSG00000141582 chr17:75421549-75427808 3,9 Amplification PGDX379T2 TBC1D16 TBC1 domain family; member 16 ENSG00000167291 chr17:75528413-75624242 3,1 Amplification PGDX379T2 AATK apoptosis-associated tyrosine kinase ENSG00000181409 chr17:76705690-76754467 3,9 Amplification PGDX379T2 MIR338 miR-338 stem-loop MI0000814 chr17:76714277-76714344 7,5 Amplification PGDX379T2 C17orf56 chromosome 17 open reading frame 56 ENSG00000167302 chr17:76816673-76827450 3,2 Amplification PGDX379T2 FSCN2 fascin homolog 2; actin-bundling protein; retinal (Strongylocentrotus purpuratus) ENSG00000186765 chr17:77110152-77114631 3,3 Amplification PGDX379T2 NPB neuropeptide B ENSG00000183979 chr17:77453363-77454072 3,9 Amplification PGDX379T2 MAFG v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) ENSG00000197063 chr17:77469437-77478879 3,6 Amplification PGDX379T2 STRA13 stimulated by retinoic acid 13 homolog (mouse) ENSG00000169689 chr17:77569867-77574083 4,6 Amplification PGDX379T2 SLC16A3 solute carrier family 16; member 3 (monocarboxylic acid transporter 4) ENSG00000141526 chr17:77779581-77790658 3,3 Amplification PGDX379T2 UTS2R urotensin 2 receptor ENSG00000181408 chr17:77925489-77926659 3,8 Amplification PGDX379T2 METRNL meteorin; glial cell differentiation regulator-like ENSG00000176845 chr17:78630855-78646011 3,3 Amplification PGDX379T2 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) ENSG00000141433 chr18:894943-902173 3 Amplification PGDX379T2 AP005482.1 Uncharacterized protein ENSG00000215527 chr18:12648204-12648712 4,1 Amplification PGDX379T2 GATA6 GATA binding protein 6 ENSG00000141448 chr18:18003413-18036225 3,1 Amplification PGDX379T2 AC105247.1 miRNA ENSG00000222999 chr18:18970396-18970474 3,4 Amplification PGDX379T2 MIR187 microRNA 187 ENSG00000207797 chr18:31738778-31738887 4,6 Amplification PGDX379T2 SALL3 sal-like 3 (Drosophila) ENSG00000151514 chr18:74841262-74859181 3,5 Amplification PGDX379T2 KCNG2 potassium voltage-gated channel; subfamily G; member 2 ENSG00000178342 chr18:75724655-75760804 7,3 Amplification PGDX379T2 AC114341.9 cDNA FLJ44200 fis, clone THYMU3000826. ENSG00000215413 chr18:75763453-75805312 3,4 Amplification PGDX379T2 C2CD4C C2 calcium-dependent domain containing 4C ENSG00000183186 chr19:356507-360145 4 Amplification PGDX379T2 SHC2 SHC (Src homology 2 domain containing) transforming protein 2 ENSG00000129946 chr19:367592-411903 4,5 Amplification PGDX379T2 ODF3L2 outer dense fiber of sperm tails 3-like 2 ENSG00000181781 chr19:414346-425983 4,9 Amplification PGDX379T2 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 ENSG00000099866 chr19:447489-456343 3,5 Amplification PGDX379T2 C19orf20 chromosome 19 open reading frame 20 ENSG00000141933 chr19:458496-470654 5,3 Amplification PGDX379T2 GZMM granzyme M (lymphocyte met-ase 1) ENSG00000197540 chr19:495026-500919 4,8 Amplification PGDX379T2 BSG basigin (Ok blood group) ENSG00000172270 chr19:522324-534493 3,5 Amplification PGDX379T2 POLRMT polymerase (RNA) mitochondrial (DNA directed) ENSG00000099821 chr19:568222-584568 3,5 Amplification PGDX379T2 FGF22 fibroblast growth factor 22 ENSG00000070388 chr19:590919-594605 7 Amplification PGDX379T2 AC004449.1 Uncharacterized protein ENSG00000196614 chr19:595370-598309 4 Amplification PGDX379T2 RNF126 ring finger protein 126 ENSG00000070423 chr19:598525-614233 5 Amplification PGDX379T2 FSTL3 follistatin-like 3 (secreted glycoprotein) ENSG00000070404 chr19:627388-634392 3,9 Amplification PGDX379T2 PRSSL1 protease; serine-like 1 ENSG00000185198 chr19:636545-646483 4 Amplification PGDX379T2 PALM paralemmin ENSG00000099864 chr19:659947-699330 3,3 Amplification PGDX379T2 AC006273.1 Lipid phosphate phosphatase-related protein type 3 ENSG00000129951 chr19:763517-772952 4,9 Amplification PGDX379T2 AZU1 azurocidin 1 ENSG00000172232 chr19:776096-783017 3,4 Amplification PGDX379T2 PRTN3 proteinase 3 ENSG00000196415 chr19:791984-799175 4,1 Amplification PGDX379T2 ELANE elastase; neutrophil expressed ENSG00000197561 chr19:803290-807246 4,1 Amplification PGDX379T2 CFD complement factor D (adipsin) ENSG00000197766 chr19:810664-814610 5,1 Amplification PGDX379T2 MED16 mediator complex subunit 16 ENSG00000175221 chr19:818961-844218 3,9 Amplification PGDX379T2 C19orf22 chromosome 19 open reading frame 22 ENSG00000198858 chr19:847502-864225 3,8 Amplification PGDX379T2 KISS1R KISS1 receptor ENSG00000116014 chr19:868341-872015 3,8 Amplification PGDX379T2 WDR18 WD repeat domain 18 ENSG00000065268 chr19:935327-945569 3,8 Amplification PGDX379T2 GRIN3B glutamate receptor; ionotropic; N-methyl-D-aspartate 3B ENSG00000116032 chr19:951436-960723 4,1 Amplification PGDX379T2 C19orf6 chromosome 19 open reading frame 6 ENSG00000182087 chr19:960649-972141 4,2 Amplification PGDX379T2 HMHA1 histocompatibility (minor) HA-1 ENSG00000180448 chr19:1018173-1037627 3,5 Amplification PGDX379T2 POLR2E polymerase (RNA) II (DNA directed) polypeptide E; 25kDa ENSG00000099817 chr19:1037577-1046391 3,6 Amplification PGDX379T2 GPX4 glutathione peroxidase 4 (phospholipid hydroperoxidase) ENSG00000167468 chr19:1054935-1057787 3,3 Amplification PGDX379T2 SBNO2 strawberry notch homolog 2 (Drosophila) ENSG00000064932 chr19:1058657-1125259 4,8 Amplification PGDX379T2 STK11 serine/threonine kinase 11 ENSG00000118046 chr19:1156797-1179434 3,1 Amplification PGDX379T2 C19orf26 chromosome 19 open reading frame 26 ENSG00000099625 chr19:1180177-1188990 5,2 Amplification PGDX379T2 ATP5D ATP synthase; H+ transporting; mitochondrial F1 complex; delta subunit ENSG00000099624 chr19:1192748-1195824 3,6 Amplification PGDX379T2 MIDN midnolin ENSG00000167470 chr19:1199551-1210142 3,3 Amplification PGDX379T2 EFNA2 ephrin-A2 ENSG00000099617 chr19:1237167-1250944 3,1 Amplification NADH dehydrogenase (ubiquinone) Fe-S protein 7; 20kDa (NADH-coenzyme Q PGDX379T2 NDUFS7 reductase) ENSG00000115286 chr19:1334882-1346588 3,2 Amplification PGDX379T2 AC005329.1 Uncharacterized protein ENSG00000176936 chr19:1340081-1340533 3 Amplification PGDX379T2 APC2 adenomatosis polyposis coli 2 ENSG00000115266 chr19:1401147-1424243 3,7 Amplification PGDX379T2 C19orf25 chromosome 19 open reading frame 25 ENSG00000119559 chr19:1425813-1430198 3,6 Amplification PGDX379T2 PCSK4 proprotein convertase subtilisin/kexin type 4 ENSG00000115257 chr19:1432426-1441407 4,7 Amplification PGDX379T2 MEX3D mex-3 homolog D (C. elegans) ENSG00000181588 chr19:1505667-1519057 6,1 Amplification PGDX379T2 MBD3 methyl-CpG binding domain protein 3 ENSG00000071655 chr19:1527677-1543652 4,7 Amplification PGDX379T2 TCF3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) ENSG00000071564 chr19:1560292-1603326 4,1 Amplification PGDX379T2 ONECUT3 one cut homeobox 3 ENSG00000205922 chr19:1704661-1726444 5,5 Amplification PGDX379T2 REXO1 REX1; RNA exonuclease 1 homolog (S. cerevisiae) ENSG00000079313 chr19:1766244-1799452 3,6 Amplification PGDX379T2 MIR1909 miR-1909 stem-loop MI0008330 chr19:1767157-1767237 3,9 Amplification PGDX379T2 KLF16 Kruppel-like factor 16 ENSG00000129911 chr19:1803397-1814564 5,7 Amplification PGDX379T2 AC012615.4 MSTP121 (FWP005). ENSG00000167475 chr19:1856372-1877009 3,1 Amplification PGDX379T2 ADAT3 adenosine deaminase; tRNA-specific 3; TAD3 homolog (S. cerevisiae) ENSG00000213638 chr19:1856416-1864446 4,9 Amplification PGDX379T2 CSNK1G2 casein kinase 1; gamma 2 ENSG00000133275 chr19:1892160-1932336 4 Amplification PGDX379T2 BTBD2 BTB (POZ) domain containing 2 ENSG00000133243 chr19:1936446-1966702 4,6 Amplification PGDX379T2 MOBKL2A MOB1; Mps One Binder kinase activator-like 2A (yeast) ENSG00000172081 chr19:2022034-2047304 3,4 Amplification PGDX379T2 DOT1L DOT1-like; histone H3 methyltransferase (S. cerevisiae) ENSG00000104885 chr19:2115147-2183577 3,3 Amplification PGDX379T2 SF3A2 splicing factor 3a; subunit 2; 66kDa ENSG00000104897 chr19:2187815-2199678 4 Amplification PGDX379T2 AMH anti-Mullerian hormone ENSG00000104899 chr19:2200112-2203072 3,7 Amplification PGDX379T2 C19orf35 chromosome 19 open reading frame 35 ENSG00000188305 chr19:2225630-2233181 5,6 Amplification PGDX379T2 LINGO3 leucine rich repeat and Ig domain containing 3 ENSG00000220008 chr19:2240773-2259156 3,4 Amplification PGDX379T2 AC004410.1 Signal peptide peptidase-like 2B ENSG00000005206 chr19:2279628-2306099 3,6 Amplification PGDX379T2 LMNB2 lamin B2 ENSG00000176619 chr19:2379163-2407958 3,2 Amplification PGDX379T2 DIRAS1 DIRAS family; GTP-binding RAS-like 1 ENSG00000176490 chr19:2665564-2672390 3,6 Amplification PGDX379T2 SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing; alpha ENSG00000104969 chr19:2705711-2734354 3,4 Amplification PGDX379T2 GNA11 guanine nucleotide binding protein (G protein); alpha 11 (Gq class) ENSG00000088256 chr19:3045407-3072454 3,1 Amplification PGDX379T2 NCLN nicalin homolog (zebrafish) ENSG00000125912 chr19:3136874-3160573 3,4 Amplification PGDX379T2 DOHH deoxyhypusine hydroxylase/monooxygenase ENSG00000129932 chr19:3441819-3451938 5,3 Amplification PGDX379T2 RAX2 retina and anterior neural fold homeobox 2 ENSG00000173976 chr19:3448812-3723219 3,1 Amplification PGDX379T2 FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) ENSG00000105325 chr19:3457294-3489325 3,5 Amplification PGDX379T2 C19orf28 chromosome 19 open reading frame 28 ENSG00000161091 chr19:3489262-3508571 3,7 Amplification PGDX379T2 C19orf71 chromosome 19 open reading frame 71 ENSG00000183397 chr19:3490151-3495028 3,5 Amplification PGDX379T2 GIPC3 GIPC PDZ domain containing family; member 3 ENSG00000179855 chr19:3536568-3544538 3 Amplification PGDX379T2 TBXA2R thromboxane A2 receptor ENSG00000006638 chr19:3545503-3557831 4,7 Amplification PGDX379T2 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase; type I; gamma ENSG00000186111 chr19:3581181-3651445 3,7 Amplification PGDX379T2 APBA3 amyloid beta (A4) precursor protein-binding; family A; member 3 ENSG00000011132 chr19:3701770-3712673 3,6 Amplification PGDX379T2 ZFR2 zinc finger RNA binding protein 2 ENSG00000105278 chr19:3755021-3820027 3,8 Amplification PGDX379T2 ITGB1BP3 integrin beta 1 binding protein 3 ENSG00000077009 chr19:3884100-3893414 3,1 Amplification PGDX379T2 DAPK3 death-associated protein kinase 3 ENSG00000167657 chr19:3909451-3920826 3,1 Amplification PGDX379T2 PIAS4 protein inhibitor of activated STAT; 4 ENSG00000105229 chr19:3958747-3990383 3,5 Amplification PGDX379T2 ZBTB7A zinc finger and BTB domain containing 7A ENSG00000178951 chr19:3996215-4017816 5,7 Amplification PGDX379T2 SIRT6 sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae) ENSG00000077463 chr19:4125105-4133596 3,7 Amplification PGDX379T2 EBI3 Epstein-Barr virus induced 3 ENSG00000105246 chr19:4180494-4188524 3,4 Amplification PGDX379T2 SH3GL1 SH3-domain GRB2-like 1 ENSG00000141985 chr19:4311366-4351496 3,2 Amplification PGDX379T2 UBXN6 UBX domain protein 6 ENSG00000167671 chr19:4396008-4408790 3,6 Amplification PGDX379T2 PLIN5 perilipin 5 ENSG00000214456 chr19:4473543-4486208 3,1 Amplification sema domain; transmembrane domain (TM); and cytoplasmic domain; (semaphorin) PGDX379T2 SEMA6B 6B ENSG00000167680 chr19:4493599-4509507 3,4 Amplification PGDX379T2 TNFAIP8L1 tumor necrosis factor; alpha-induced protein 8-like 1 ENSG00000185361 chr19:4590526-4606580 4,3 Amplification PGDX379T2 KDM4B lysine (K)-specific demethylase 4B ENSG00000127663 chr19:4920123-5104608 3,2 Amplification PGDX379T2 ZNRF4 zinc and ring finger 4 ENSG00000105428 chr19:5406425-5407867 3,3 Amplification PGDX379T2 HSD11B1L hydroxysteroid (11-beta) dehydrogenase 1-like ENSG00000167733 chr19:5632034-5639533 3,2 Amplification PGDX379T2 PRR22 proline rich 22 ENSG00000212123 chr19:5733970-5735610 3,2 Amplification PGDX379T2 DUS3L dihydrouridine synthase 3-like (S. cerevisiae) ENSG00000141994 chr19:5736154-5742249 3,3 Amplification PGDX379T2 NRTN neurturin ENSG00000171119 chr19:5774817-5779335 5,2 Amplification myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog; Drosophila); PGDX379T2 MLLT1 translocated to; 1 ENSG00000130382 chr19:6161391-6230959 3,1 Amplification PGDX379T2 ALKBH7 alkB; alkylation repair homolog 7 (E. coli) ENSG00000125652 chr19:6323443-6326040 3 Amplification PGDX379T2 PSPN persephin ENSG00000125650 chr19:6326304-6326860 3,1 Amplification PGDX379T2 PEX11G peroxisomal biogenesis factor 11 gamma ENSG00000104883 chr19:7447760-7459905 3,6 Amplification PGDX379T2 KIAA1543 Uncharacterized protein ENSG00000076826 chr19:7566787-7589196 3 Amplification PGDX379T2 XAB2 XPA binding protein 2 ENSG00000076924 chr19:7590410-7600439 3 Amplification PGDX379T2 PCP2 Purkinje cell protein 2 ENSG00000174788 chr19:7602506-7604636 3,4 Amplification PGDX379T2 TRAPPC5 trafficking protein particle complex 5 ENSG00000181029 chr19:7651706-7653748 5 Amplification PGDX379T2 AC010336.8 Uncharacterized protein ENSG00000183248 chr19:7839630-7842008 3,3 Amplification PGDX379T2 CTXN1 cortexin 1 ENSG00000178531 chr19:7895371-7897051 4,2 Amplification PGDX379T2 KANK3 KN motif and ankyrin repeat domains 3 ENSG00000186994 chr19:8293467-8314146 3,2 Amplification PGDX379T2 RAB11B RAB11B; member RAS oncogene family ENSG00000185236 chr19:8361204-8375318 3,5 Amplification PGDX379T2 ZNF414 zinc finger protein 414 ENSG00000133250 chr19:8481462-8485048 5,5 Amplification PGDX379T2 ACTL9 actin-like 9 ENSG00000181786 chr19:8668750-8670172 3,3 Amplification PGDX379T2 FBXL12 F-box and leucine-rich repeat protein 12 ENSG00000127452 chr19:9781942-9790731 3,4 Amplification PGDX379T2 PIN1 peptidylprolyl cis/trans isomerase; NIMA-interacting 1 ENSG00000127445 chr19:9806998-9821358 4,5 Amplification PGDX379T2 S1PR5 sphingosine-1-phosphate receptor 5 ENSG00000180739 chr19:10484418-10489668 4,2 Amplification PGDX379T2 MIR1238 microRNA 1238 ENSG00000221410 chr19:10523797-10523880 4,2 Amplification PGDX379T2 MIR199A1 microRNA 199a-1 ENSG00000207752 chr19:10789101-10789172 3,6 Amplification PGDX379T2 NACC1 nucleus accumbens associated 1; BEN and BTB (POZ) domain containing ENSG00000160877 chr19:13090108-13112959 3,2 Amplification PGDX379T2 IER2 immediate early response 2 ENSG00000160888 chr19:13122281-13126718 3 Amplification PGDX379T2 MIR27A microRNA 27a ENSG00000207808 chr19:13808253-13808331 3,8 Amplification PGDX379T2 NANOS3 nanos homolog 3 (Drosophila) ENSG00000187556 chr19:13848949-13852571 3,4 Amplification PGDX379T2 RFX1 regulatory factor X; 1 (influences HLA class II expression) ENSG00000132005 chr19:13933342-13978134 3,7 Amplification PGDX379T2 PTGER1 prostaglandin E receptor 1 (subtype EP1); 42kDa ENSG00000160951 chr19:14444277-14447174 4,1 Amplification PGDX379T2 NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex; 7; 18kDa ENSG00000099795 chr19:14537889-14543886 4,1 Amplification PGDX379T2 KLF2 Kruppel-like factor 2 (lung) ENSG00000127528 chr19:16296636-16299683 5,7 Amplification PGDX379T2 F2RL3 coagulation factor II (thrombin) receptor-like 3 ENSG00000127533 chr19:16860825-16863830 4 Amplification PGDX379T2 TMEM221 transmembrane protein 221 ENSG00000188051 chr19:17408452-17420118 3,1 Amplification PGDX379T2 NXNL1 nucleoredoxin-like 1 ENSG00000171773 chr19:17427233-17432725 3,1 Amplification PGDX379T2 SLC27A1 solute carrier family 27 (fatty acid transporter); member 1 ENSG00000130304 chr19:17442299-17477977 3,3 Amplification PGDX379T2 MAP1S microtubule-associated protein 1S ENSG00000130479 chr19:17691290-17706324 4 Amplification PGDX379T2 CCDC124 coiled-coil domain containing 124 ENSG00000007080 chr19:17904823-17915793 6,3 Amplification PGDX379T2 JUND jun D proto-oncogene ENSG00000130522 chr19:18251562-18253432 3 Amplification PGDX379T2 FKBP8 FK506 binding protein 8; 38kDa ENSG00000105701 chr19:18503567-18515383 3 Amplification PGDX379T2 CRLF1 cytokine receptor-like factor 1 ENSG00000006016 chr19:18565036-18578660 3 Amplification PGDX379T2 KLHL26 kelch-like 26 (Drosophila) ENSG00000167487 chr19:18608837-18642302 3,5 Amplification PGDX379T2 CRTC1 CREB regulated transcription coactivator 1 ENSG00000105662 chr19:18655424-18754143 3,1 Amplification PGDX379T2 GDF1 growth differentiation factor 1 ENSG00000130283 chr19:18840360-18867953 6,3 Amplification PGDX379T2 COPE coatomer protein complex; subunit epsilon ENSG00000105669 chr19:18871322-18891199 3 Amplification PGDX379T2 TSSK6 testis-specific serine kinase 6 ENSG00000178093 chr19:19484229-19487469 4,2 Amplification PGDX379T2 CILP2 cartilage intermediate layer protein 2 ENSG00000160161 chr19:19510073-19518468 3,7 Amplification PGDX379T2 PLEKHF1 pleckstrin homology domain containing; family F (with FYVE domain) member 1 ENSG00000166289 chr19:34847802-34858223 3,6 Amplification PGDX379T2 RGS9BP regulator of G protein signaling 9 binding protein ENSG00000186326 chr19:37858152-37861046 3,5 Amplification PGDX379T2 LRP3 low density lipoprotein receptor-related protein 3 ENSG00000130881 chr19:38377329-38391607 3,3 Amplification PGDX379T2 FFAR1 free fatty acid receptor 1 ENSG00000126266 chr19:40534284-40535207 3,1 Amplification PGDX379T2 HSPB6 heat shock protein; alpha-crystallin-related; B6 ENSG00000004776 chr19:40937309-40939799 4,7 Amplification PGDX379T2 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 ENSG00000126243 chr19:41119589-41127937 3,7 Amplification PGDX379T2 SDHAF1 succinate dehydrogenase complex assembly factor 1 ENSG00000205138 chr19:41177940-41179054 3,7 Amplification PGDX379T2 AD001527.1 Putative transcription factor Ovo-like 2-like. ENSG00000105261 chr19:41293848-41296453 3,9 Amplification PGDX379T2 DPF1 zinc finger protein neuro-d4 isoform c NM_001135156 chr19:43393489-43412157 3 Amplification PGDX379T2 GGN gametogenetin ENSG00000179168 chr19:43566744-43570508 3,5 Amplification PGDX379T2 PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 ENSG00000130669 chr19:44308259-44361886 4,2 Amplification PGDX379T2 SYCN syncollin ENSG00000179751 chr19:44386332-44386734 4 Amplification PGDX379T2 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 ENSG00000128011 chr19:44489298-44497816 3,4 Amplification PGDX379T2 MAP3K10 mitogen-activated protein kinase kinase kinase 10 ENSG00000130758 chr19:45389490-45413321 3,7 Amplification PGDX379T2 TTC9B tetratricopeptide repeat domain 9B ENSG00000174521 chr19:45413804-45416146 4,1 Amplification PGDX379T2 CNTD2 cyclin N-terminal domain containing 2 ENSG00000105219 chr19:45419961-45424404 3,2 Amplification PGDX379T2 B9D2 B9 protein domain 2 ENSG00000123810 chr19:46552161-46561918 3,3 Amplification PGDX379T2 ZNF575 zinc finger protein 575 ENSG00000176472 chr19:48729168-48732124 4 Amplification PGDX379T2 IRGC immunity-related GTPase family; cinema ENSG00000124449 chr19:48912053-48916007 3,2 Amplification PGDX379T2 BCL3 B-cell CLL/lymphoma 3 ENSG00000069399 chr19:49943643-49955141 3,3 Amplification PGDX379T2 APOE apolipoprotein E ENSG00000130203 chr19:50100878-50104490 4,4 Amplification PGDX379T2 NKPD1 NTPase; KAP family P-loop domain containing 1 ENSG00000179846 chr19:50347035-50348868 3,5 Amplification PGDX379T2 BLOC1S3 biogenesis of lysosomal organelles complex-1; subunit 3 ENSG00000189114 chr19:50373842-50376898 3,2 Amplification PGDX379T2 PPP1R13L protein phosphatase 1; regulatory (inhibitor) subunit 13 like ENSG00000104881 chr19:50574732-50601447 3,2 Amplification PGDX379T2 OPA3 optic atrophy 3 (autosomal recessive; with chorea and spastic paraplegia) ENSG00000125741 chr19:50722864-50779962 3,2 Amplification PGDX379T2 FBXO46 F-box protein 46 ENSG00000177051 chr19:50906322-50906933 5,1 Amplification PGDX379T2 SIX5 SIX homeobox 5 ENSG00000177045 chr19:50959883-50964337 3,1 Amplification PGDX379T2 DMWD dystrophia myotonica; WD repeat containing ENSG00000185800 chr19:50978103-50987900 3,1 Amplification PGDX379T2 IRF2BP1 interferon regulatory factor 2 binding protein 1 ENSG00000170604 chr19:51078705-51081216 3,6 Amplification PGDX379T2 MYPOP Myb-related transcription factor; partner of profilin ENSG00000176182 chr19:51085120-51097702 5,6 Amplification PGDX379T2 NANOS2 nanos homolog 2 (Drosophila) ENSG00000188425 chr19:51108312-51109876 4,3 Amplification PGDX379T2 NOVA2 neuro-oncological ventral antigen 2 ENSG00000104967 chr19:51134610-51168497 3,3 Amplification PGDX379T2 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) ENSG00000160013 chr19:51815564-51820194 4,1 Amplification PGDX379T2 DACT3 dapper; antagonist of beta-catenin; homolog 3 (Xenopus laevis) ENSG00000197380 chr19:51842708-51856235 3,3 Amplification PGDX379T2 FKRP fukutin related protein ENSG00000181027 chr19:51941142-51953672 4,3 Amplification PGDX379T2 NPAS1 neuronal PAS domain protein 1 ENSG00000130751 chr19:52214940-52240873 3,1 Amplification PGDX379T2 TMEM160 transmembrane protein 160 ENSG00000130748 chr19:52241006-52243722 4,2 Amplification PGDX379T2 GLTSCR1 glioma tumor suppressor candidate region gene 1 ENSG00000063169 chr19:52874030-52898291 3,6 Amplification PGDX379T2 SNORD23 small nucleolar RNA; C/D box 23 ENSG00000221803 chr19:52950921-52951031 3,8 Amplification PGDX379T2 C19orf68 chromosome 19 open reading frame 68 ENSG00000185453 chr19:53365760-53392689 3,5 Amplification PGDX379T2 AC011466.6 cDNA FLJ37614 fis, clone BRCOC2011769. ENSG00000196223 chr19:53375838-53399021 3,3 Amplification PGDX379T2 FAM83E family with sequence similarity 83; member E ENSG00000105523 chr19:53795668-53808506 4 Amplification PGDX379T2 SPACA4 sperm acrosome associated 4 ENSG00000177202 chr19:53801811-53802783 3 Amplification PGDX379T2 NTN5 netrin 5 ENSG00000142233 chr19:53856475-53868076 3,5 Amplification PGDX379T2 KCNA7 potassium voltage-gated channel; shaker-related subfamily; member 7 ENSG00000104848 chr19:54262486-54268010 3,1 Amplification PGDX379T2 LIN7B lin-7 homolog B (C. elegans) ENSG00000104863 chr19:54309392-54313529 3,3 Amplification PGDX379T2 PTH2 parathyroid hormone 2 ENSG00000142538 chr19:54617482-54618510 3,6 Amplification PGDX379T2 MIR150 microRNA 150 ENSG00000207782 chr19:54695853-54695937 4,1 Amplification PGDX379T2 NOSIP nitric oxide synthase interacting protein ENSG00000142546 chr19:54750779-54775625 3,6 Amplification PGDX379T2 PRR12 proline rich 12 ENSG00000126464 chr19:54790590-54821507 3,1 Amplification PGDX379T2 SCAF1 SR-related CTD-associated factor 1 ENSG00000126461 chr19:54837193-54853717 3,7 Amplification PGDX379T2 ATF5 activating transcription factor 5 ENSG00000169136 chr19:55123785-55129004 3,3 Amplification PGDX379T2 KCNC3 potassium voltage-gated channel; Shaw-related subfamily; member 3 ENSG00000131398 chr19:55507005-55524446 3 Amplification PGDX379T2 POLD1 polymerase (DNA directed); delta 1; catalytic subunit 125kDa ENSG00000062822 chr19:55579404-55613083 3,3 Amplification PGDX379T2 JOSD2 Josephin domain containing 2 ENSG00000161677 chr19:55701066-55706231 5,1 Amplification PGDX379T2 LRRC4B leucine rich repeat containing 4B ENSG00000131409 chr19:55711960-55763114 4,6 Amplification PGDX379T2 SNORD88B small nucleolar RNA; C/D box 88B ENSG00000221381 chr19:55994100-55994191 4 Amplification PGDX379T2 CTU1 cytosolic thiouridylase subunit 1 homolog (S. pombe) ENSG00000142544 chr19:56292675-56303459 8,2 Amplification PGDX379T2 IGLON5 IgLON family member 5 ENSG00000142549 chr19:56506913-56525914 3,1 Amplification PGDX379T2 MIR99B microRNA 99b ENSG00000207550 chr19:56887676-56887746 4,6 Amplification PGDX379T2 HAS1 hyaluronan synthase 1 ENSG00000105509 chr19:56908176-56919049 3 Amplification PGDX379T2 CACNG8 calcium channel; voltage-dependent; gamma subunit 8 ENSG00000142408 chr19:59158105-59177951 3,4 Amplification PGDX379T2 MIR935 miR-935 stem-loop MI0005757 chr19:59177372-59177463 3,3 Amplification PGDX379T2 TTYH1 tweety homolog 1 (Drosophila) ENSG00000167614 chr19:59618416-59639892 3,1 Amplification PGDX379T2 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5 ENSG00000167617 chr19:59668021-59676234 6,8 Amplification PGDX379T2 PPP1R12C protein phosphatase 1; regulatory (inhibitor) subunit 12C ENSG00000125503 chr19:60294092-60320739 3 Amplification PGDX379T2 TMEM86B transmembrane protein 86B ENSG00000180089 chr19:60429923-60432444 3,2 Amplification PGDX379T2 SUV420H2 suppressor of variegation 4-20 homolog 2 (Drosophila) ENSG00000133247 chr19:60543032-60551301 3,2 Amplification PGDX379T2 IL11 interleukin 11 ENSG00000095752 chr19:60567568-60573626 4,2 Amplification PGDX379T2 SHISA7 shisa homolog 7 (Xenopus laevis) ENSG00000187902 chr19:60636334-60645583 3,7 Amplification PGDX379T2 ZNF628 zinc finger protein 628 ENSG00000197483 chr19:60679510-60687666 3,9 Amplification PGDX379T2 NAT14 N-acetyltransferase 14 (GCN5-related; putative) ENSG00000090971 chr19:60688405-60690747 4,1 Amplification PGDX379T2 SBK2 SH3-binding domain kinase family; member 2 ENSG00000187550 chr19:60732911-60739473 4,4 Amplification PGDX379T2 ZNF579 zinc finger protein 579 ENSG00000218891 chr19:60780702-60784023 5,9 Amplification PGDX379T2 FIZ1 FLT3-interacting zinc finger 1 ENSG00000179943 chr19:60794548-60802705 5,4 Amplification PGDX379T2 ZNF784 zinc finger protein 784 ENSG00000179922 chr19:60823918-60827753 7,7 Amplification PGDX379T2 ZNF580 zinc finger protein 580 ENSG00000213015 chr19:60844203-60846648 4,2 Amplification PGDX379T2 EPN1 epsin 1 ENSG00000063245 chr19:60878372-60898945 3,3 Amplification PGDX379T2 ZNF787 zinc finger protein 787 ENSG00000142409 chr19:61290543-61324461 5,7 Amplification PGDX379T2 ZNF444 zinc finger protein 444 ENSG00000167685 chr19:61344367-61364074 4,2 Amplification PGDX379T2 ZSCAN18 zinc finger and SCAN domain containing 18 ENSG00000121413 chr19:63287021-63301542 3,3 Amplification PGDX379T2 A1BG alpha-1-B glycoprotein ENSG00000121410 chr19:63548355-63556677 3 Amplification PGDX379T2 ZNF497 zinc finger protein 497 ENSG00000174586 chr19:63557536-63565932 3,8 Amplification PGDX379T2 ZNF837 zinc finger protein 837 ENSG00000152475 chr19:63570801-63584201 5,2 Amplification PGDX379T2 ZBTB45 zinc finger and BTB domain containing 45 ENSG00000119574 chr19:63716708-63722733 3,9 Amplification PGDX379T2 SOX12 SRY (sex determining region Y)-box 12 ENSG00000177732 chr20:254238-258867 3,9 Amplification PGDX379T2 TCF15 transcription factor 15 (basic helix-loop-helix) ENSG00000125878 chr20:532440-538953 5,9 Amplification PGDX379T2 SCRT2 scratch homolog 2; zinc finger protein (Drosophila) ENSG00000215397 chr20:590240-604823 6,4 Amplification PGDX379T2 FAM110A family with sequence similarity 110; member A ENSG00000125898 chr20:762355-774922 4,7 Amplification PGDX379T2 RSPO4 R-spondin family; member 4 ENSG00000101282 chr20:887097-930907 3,8 Amplification PGDX379T2 EBF4 early B-cell factor 4 ENSG00000088881 chr20:2621523-2688754 3,3 Amplification PGDX379T2 OXT oxytocin; prepropeptide ENSG00000101405 chr20:3000265-3001162 4,3 Amplification PGDX379T2 AVP arginine vasopressin ENSG00000101200 chr20:3011187-3013370 4,4 Amplification PGDX379T2 GFRA4 GDNF family receptor alpha 4 ENSG00000125861 chr20:3587938-3592046 5,2 Amplification PGDX379T2 HSPA12B heat shock 70kD protein 12B ENSG00000132622 chr20:3661355-3681758 3,8 Amplification PGDX379T2 C20orf29 chromosome 20 open reading frame 29 ENSG00000125843 chr20:3749177-3753954 3,1 Amplification PGDX379T2 ADRA1D adrenergic; alpha-1D-; receptor ENSG00000171873 chr20:4149277-4177659 4 Amplification PGDX379T2 LRRN4 leucine rich repeat neuronal 4 ENSG00000125872 chr20:5969424-5982694 3,6 Amplification PGDX379T2 INSM1 insulinoma-associated 1 ENSG00000173404 chr20:20296764-20299592 5,2 Amplification PGDX379T2 NKX2-4 NK2 homeobox 4 ENSG00000125816 chr20:21324004-21326047 4,1 Amplification PGDX379T2 NKX2-2 NK2 homeobox 2 ENSG00000125820 chr20:21439651-21442664 3,6 Amplification PGDX379T2 THBD thrombomodulin ENSG00000178726 chr20:22974269-22978378 3,4 Amplification PGDX379T2 CST3 cystatin C ENSG00000101439 chr20:23556533-23567110 3,4 Amplification PGDX379T2 RP11-410N8.4 Uncharacterized protein ENSG00000204393 chr20:30616454-30660356 3,2 Amplification PGDX379T2 C20orf144 chromosome 20 open reading frame 144 ENSG00000149609 chr20:31713750-31715382 3,1 Amplification PGDX379T2 MAP1LC3A microtubule-associated protein 1 light chain 3 alpha ENSG00000101460 chr20:32598352-32611810 3,6 Amplification PGDX379T2 TP53INP2 tumor protein p53 inducible nuclear protein 2 ENSG00000078804 chr20:32755803-32764904 3 Amplification PGDX379T2 BLCAP bladder cancer associated protein ENSG00000166619 chr20:35579232-35589747 3,9 Amplification PGDX379T2 NNAT neuronatin ENSG00000053438 chr20:35583020-35585504 4,9 Amplification PGDX379T2 VSTM2L V-set and transmembrane domain containing 2 like ENSG00000132821 chr20:35964912-36007161 4,3 Amplification PGDX379T2 MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) ENSG00000204103 chr20:38747901-38751294 3,1 Amplification PGDX379T2 JPH2 junctophilin 2 ENSG00000149596 chr20:42173750-42249632 3,4 Amplification PGDX379T2 WISP2 WNT1 inducible signaling pathway protein 2 ENSG00000064205 chr20:42776898-42790564 3 Amplification PGDX379T2 KCNK15 potassium channel; subfamily K; member 15 ENSG00000124249 chr20:42807901-42813078 4,2 Amplification PGDX379T2 CDH22 cadherin 22; type 2 ENSG00000149654 chr20:44235782-44313741 3,6 Amplification PGDX379T2 CEBPB CCAAT/enhancer binding protein (C/EBP); beta ENSG00000172216 chr20:48240782-48242619 3,7 Amplification PGDX379T2 KCNG1 potassium voltage-gated channel; subfamily G; member 1 ENSG00000026559 chr20:49053599-49073082 3,9 Amplification PGDX379T2 RBM38 RNA binding motif protein 38 ENSG00000132819 chr20:55399869-55417795 3,5 Amplification PGDX379T2 APCDD1L adenomatosis polyposis coli down-regulated 1-like ENSG00000198768 chr20:56467831-56523355 3,5 Amplification PGDX379T2 NPEPL1 aminopeptidase-like 1 ENSG00000215440 chr20:56701362-56724306 3,5 Amplification PGDX379T2 PPP1R3D protein phosphatase 1; regulatory (inhibitor) subunit 3D ENSG00000132825 chr20:57945117-57948747 5,9 Amplification PGDX379T2 SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 ENSG00000184402 chr20:60152216-60190961 3,1 Amplification PGDX379T2 HRH3 histamine receptor H3 ENSG00000101180 chr20:60223411-60228718 3,1 Amplification PGDX379T2 ADRM1 adhesion regulating molecule 1 ENSG00000130706 chr20:60311421-60317313 3,2 Amplification PGDX379T2 LAMA5 laminin; alpha 5 ENSG00000130702 chr20:60317515-60375763 3,9 Amplification PGDX379T2 GATA5 GATA binding protein 5 ENSG00000130700 chr20:60471947-60484421 5,7 Amplification PGDX379T2 MIR133A2 microRNA 133a-2 ENSG00000207764 chr20:60572563-60572665 7,4 Amplification PGDX379T2 RP11-93B14.6 Uncharacterized protein ENSG00000167046 chr20:60742515-60745093 3,5 Amplification PGDX379T2 NTSR1 neurotensin receptor 1 (high affinity) ENSG00000101188 chr20:60810633-60864568 3,2 Amplification PGDX379T2 C20orf20 chromosome 20 open reading frame 20 ENSG00000101189 chr20:60898249-60902388 3,5 Amplification PGDX379T2 COL9A3 collagen; type IX; alpha 3 ENSG00000092758 chr20:60918858-60942956 3,2 Amplification PGDX379T2 BHLHE23 basic helix-loop-helix family; member e23 ENSG00000125533 chr20:61107723-61108832 5,4 Amplification PGDX379T2 MIR124-3 miR-124-3 stem-loop MI0000445 chr20:61280296-61280383 4,7 Amplification PGDX379T2 COL20A1 collagen; type XX; alpha 1 ENSG00000101203 chr20:61394982-61432728 3,2 Amplification PGDX379T2 CHRNA4 cholinergic receptor; nicotinic; alpha 4 ENSG00000101204 chr20:61445108-61463192 3,7 Amplification PGDX379T2 KCNQ2 potassium voltage-gated channel; KQT-like subfamily; member 2 ENSG00000075043 chr20:61507985-61574437 3,8 Amplification PGDX379T2 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ENSG00000101210 chr20:61589809-61601081 3,4 Amplification PGDX379T2 PPDPF pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) ENSG00000125534 chr20:61622561-61623968 3,3 Amplification PGDX379T2 PTK6 PTK6 protein tyrosine kinase 6 ENSG00000101213 chr20:61630219-61639151 3,3 Amplification src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation PGDX379T2 SRMS sites ENSG00000125508 chr20:61642606-61649301 4,1 Amplification PGDX379T2 C20orf195 chromosome 20 open reading frame 195 ENSG00000125531 chr20:61654816-61658505 3,1 Amplification PGDX379T2 RP4-697K14.7 Peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein ENSG00000130589 chr20:61659882-61676036 3,5 Amplification PGDX379T2 GMEB2 glucocorticoid modulatory element binding protein 2 ENSG00000101216 chr20:61689398-61728838 3,5 Amplification PGDX379T2 ZGPAT zinc finger; CCCH-type with G patch domain ENSG00000197114 chr20:61809237-61837938 3,1 Amplification PGDX379T2 LIME1 Lck interacting transmembrane adaptor 1 ENSG00000203896 chr20:61838421-61840904 3,7 Amplification PGDX379T2 SLC2A4RG SLC2A4 regulator ENSG00000125520 chr20:61841654-61845847 5 Amplification PGDX379T2 ZBTB46 zinc finger and BTB domain containing 46 ENSG00000130584 chr20:61845462-61933041 4,1 Amplification PGDX379T2 TPD52L2 tumor protein D52-like 2 ENSG00000101150 chr20:61959530-61993334 3,5 Amplification PGDX379T2 C20orf135 chromosome 20 open reading frame 135 ENSG00000183260 chr20:61963009-61964785 4,9 Amplification PGDX379T2 DNAJC5 DnaJ (Hsp40) homolog; subfamily C; member 5 ENSG00000101152 chr20:61996961-62035839 4,2 Amplification PGDX379T2 UCKL1 uridine-cytidine kinase 1-like 1 ENSG00000198276 chr20:62041636-62058213 3,3 Amplification PGDX379T2 MIR1914 microRNA 1914 ENSG00000223010 chr20:62043261-62043341 4,8 Amplification PGDX379T2 MIR647 microRNA 647 ENSG00000207554 chr20:62044427-62044523 3,8 Amplification PGDX379T2 NCRNA00176 non-protein coding RNA 176 ENSG00000196421 chr20:62139936-62141575 4,1 Amplification PGDX379T2 SOX18 SRY (sex determining region Y)-box 18 ENSG00000203883 chr20:62149522-62151423 7 Amplification PGDX379T2 RGS19 regulator of G-protein signaling 19 ENSG00000171700 chr20:62174977-62181768 3,1 Amplification PGDX379T2 C20orf201 chromosome 20 open reading frame 201 ENSG00000171695 chr20:62185176-62186156 3,3 Amplification PGDX379T2 NPBWR2 neuropeptides B/W receptor 2 ENSG00000125522 chr20:62207616-62208968 3,1 Amplification PGDX379T2 OLIG1 oligodendrocyte transcription factor 1 ENSG00000184221 chr21:33364319-33366597 4,4 Amplification PGDX379T2 RIPK4 receptor-interacting serine-threonine kinase 4 ENSG00000183421 chr21:42032597-42060335 3,2 Amplification PGDX379T2 AIRE autoimmune regulator ENSG00000160224 chr21:44530190-44542538 3 Amplification PGDX379T2 PFKL phosphofructokinase; liver ENSG00000141959 chr21:44544357-44571687 3,6 Amplification PGDX379T2 C21orf2 chromosome 21 open reading frame 2 ENSG00000160226 chr21:44573254-44583713 3,4 Amplification PGDX379T2 KRTAP12-1 keratin associated protein 12-1 ENSG00000187175 chr21:44925918-44926506 3,4 Amplification PGDX379T2 SLC19A1 solute carrier family 19 (folate transporter); member 1 ENSG00000173638 chr21:45740676-45786813 3,5 Amplification PGDX379T2 COL6A1 collagen; type VI; alpha 1 ENSG00000142156 chr21:46226090-46249391 3,2 Amplification PGDX379T2 COL6A2 collagen; type VI; alpha 2 ENSG00000142173 chr21:46342460-46377191 3,2 Amplification PGDX379T2 C21orf56 chromosome 21 open reading frame 56 ENSG00000160284 chr21:46405490-46428801 4,2 Amplification PGDX379T2 AP000365.1 Uncharacterized protein ENSG00000215573 chr22:15462800-15509719 7,1 Amplification PGDX379T2 CECR6 cat eye syndrome chromosome region; candidate 6 ENSG00000183307 chr22:15977188-15982257 3,3 Amplification PGDX379T2 GSC2 goosecoid homeobox 2 ENSG00000063515 chr22:17516088-17517796 4,7 Amplification PGDX379T2 CLDN5 claudin 5 ENSG00000184113 chr22:17890546-17895068 4,1 Amplification PGDX379T2 GP1BB glycoprotein Ib (platelet); beta polypeptide ENSG00000203618 chr22:18091065-18092297 5,4 Amplification PGDX379T2 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome ENSG00000099889 chr22:18337418-18384309 3,3 Amplification PGDX379T2 RTN4R reticulon 4 receptor ENSG00000040608 chr22:18608937-18635838 3,9 Amplification PGDX379T2 KLHL22 kelch-like 22 (Drosophila) ENSG00000099910 chr22:19108873-19122146 4 Amplification PGDX379T2 AC002470.17 cDNA FLJ42981 fis, clone BRTHA2007422. ENSG00000206152 chr22:19637821-19642102 3,7 Amplification PGDX379T2 HIC2 hypermethylated in cancer 2 ENSG00000169635 chr22:20101692-20135752 3,3 Amplification PGDX379T2 SDF2L1 stromal cell-derived factor 2-like 1 ENSG00000128228 chr22:20326541-20328588 3,2 Amplification PGDX379T2 MIF Macrophage migration inhibitory factor ENSG00000099964 chr22:22566564-22567409 3,1 Amplification PGDX379T2 MN1 meningioma (disrupted in balanced translocation) 1 ENSG00000169184 chr22:26474264-26527486 3,3 Amplification PGDX379T2 RASL10A RAS-like; family 10; member A ENSG00000100276 chr22:28038921-28041748 4 Amplification PGDX379T2 CABP7 calcium binding protein 7 ENSG00000100314 chr22:28446343-28457818 3,1 Amplification PGDX379T2 GAL3ST1 galactose-3-O-sulfotransferase 1 ENSG00000128242 chr22:29280621-29300574 3,2 Amplification PGDX379T2 MPST mercaptopyruvate sulfurtransferase ENSG00000128309 chr22:35745621-35755809 3,8 Amplification PGDX379T2 SSTR3 somatostatin receptor 3 ENSG00000183473 chr22:35932097-35938362 3,4 Amplification PGDX379T2 CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1 ENSG00000128283 chr22:36286416-36295358 3,6 Amplification PGDX379T2 LGALS1 lectin; galactoside-binding; soluble; 1 ENSG00000100097 chr22:36401558-36405755 3,1 Amplification PGDX379T2 GALR3 galanin receptor 3 ENSG00000128310 chr22:36549334-36551448 4,9 Amplification PGDX379T2 SOX10 SRY (sex determining region Y)-box 10 ENSG00000100146 chr22:36698252-36713375 3,4 Amplification PGDX379T2 SLC16A8 solute carrier family 16; member 8 (monocarboxylic acid transporter 3) ENSG00000100156 chr22:36804089-36809116 4 Amplification PGDX379T2 BAIAP2L2 BAI1-associated protein 2-like 2 ENSG00000128298 chr22:36810841-36836622 3,7 Amplification PGDX379T2 MAFF v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) ENSG00000185022 chr22:36927884-36942461 5,6 Amplification PGDX379T2 TMEM184B transmembrane protein 184B ENSG00000198792 chr22:36945243-36998962 3,4 Amplification PGDX379T2 KCNJ4 potassium inwardly-rectifying channel; subfamily J; member 4 ENSG00000168135 chr22:37152277-37181149 3,5 Amplification PGDX379T2 CBX6 chromobox homolog 6 ENSG00000183741 chr22:37590179-37598204 4,2 Amplification PGDX379T2 CBX7 chromobox homolog 7 ENSG00000100307 chr22:37856724-37878484 3,3 Amplification PGDX379T2 RRP7A ribosomal RNA processing 7 homolog A (S. cerevisiae) ENSG00000189306 chr22:41238512-41245752 3,2 Amplification PGDX379T2 A4GALT alpha 1;4-galactosyltransferase ENSG00000128274 chr22:41418070-41446820 3,8 Amplification PGDX379T2 MPPED1 metallophosphoesterase domain containing 1 ENSG00000186732 chr22:42138079-42200789 3,2 Amplification PGDX379T2 PHF21B PHD finger protein 21B ENSG00000056487 chr22:43655705-43784473 3,6 Amplification PGDX379T2 WNT7B wingless-type MMTV integration site family; member 7B ENSG00000188064 chr22:44694913-44751672 3,5 Amplification PGDX379T2 C22orf26 chromosome 22 open reading frame 26 ENSG00000182257 chr22:44825002-44828688 3,4 Amplification PGDX379T2 CRELD2 cysteine-rich with EGF-like domains 2 ENSG00000184164 chr22:48698286-48707192 3,1 Amplification PGDX379T2 PIM3 pim-3 oncogene ENSG00000198355 chr22:48740146-48743723 4,6 Amplification PGDX379T2 IL17REL interleukin 17 receptor E-like ENSG00000188263 chr22:48775068-48793215 3,5 Amplification PGDX379T2 PANX2 pannexin 2 ENSG00000073150 chr22:48951286-48960851 4,3 Amplification PGDX379T2 TRABD TraB domain containing ENSG00000170638 chr22:48966470-48980154 4 Amplification PGDX379T2 AL022328.21 Selenoprotein O (SelO). ENSG00000073169 chr22:48981534-48998172 3,5 Amplification PGDX379T2 MAPK12 mitogen-activated protein kinase 12 ENSG00000188130 chr22:49033457-49042216 3,2 Amplification PGDX379T2 PLXNB2 plexin B2 ENSG00000196576 chr22:49055534-49075336 3,3 Amplification PGDX379T2 SBF1 SET binding factor 1 ENSG00000100241 chr22:49230298-49260330 3,2 Amplification PGDX379T2 LMF2 lipase maturation factor 2 ENSG00000100258 chr22:49288243-49292987 3,5 Amplification PGDX379T2 SHANK3 SH3 and multiple ankyrin repeat domains 3 ENSG00000099882 chr22:49459935-49518507 3,2 Amplification PGDX379T2 KLHL34 kelch-like 34 (Drosophila) ENSG00000185915 chrX:21582728-21586369 3,1 Amplification PGDX379T2 NYX nyctalopin ENSG00000188937 chrX:41191630-41219907 5,4 Amplification PGDX379T2 CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 ENSG00000147119 chrX:46318135-46342782 3,3 Amplification PGDX379T2 CCDC120 coiled-coil domain containing 120 ENSG00000147144 chrX:48803459-48814454 3,5 Amplification PGDX379T2 KCNE1L KCNE1-like ENSG00000176076 chrX:108753584-108755057 4,1 Amplification PGDX379T2 ANKRD58 ankyrin repeat domain 58 ENSG00000187808 chrX:118776603-118778192 3,5 Amplification PGDX379T2 RHOXF1 Rhox homeobox family; member 1 ENSG00000101883 chrX:119127052-119133875 3 Amplification PGDX379T2 AC008162.3 Cancer/testis antigen 47.13 (CT47.13). ENSG00000203983 chrX:119890481-119893807 4,1 Amplification PGDX379T2 MIR503 microRNA 503 ENSG00000208005 chrX:133508023-133508094 4,3 Amplification PGDX379T2 SOX3 SRY (sex determining region Y)-box 3 ENSG00000134595 chrX:139412817-139415334 3,1 Amplification PGDX379T2 ZFP92 Zinc finger protein 92 homolog (Zfp-92). ENSG00000189420 chrX:152336974-152340151 3,6 Amplification PGDX379T2 PDZD4 PDZ domain containing 4 ENSG00000067840 chrX:152720816-152749216 3 Amplification PGDX379T2 ARHGAP4 Rho GTPase activating protein 4 ENSG00000089820 chrX:152826014-152844908 3,6 Amplification PGDX379T2 FAM3A family with sequence similarity 3; member A ENSG00000071889 chrX:153387695-153397757 3,3 Amplification PGDX379T2 CTAG2 cancer/testis antigen 2 ENSG00000126890 chrX:153533444-153535036 3,1 Amplification