Cell line ID Variant class Alteration type Gene name MAF gNomen Annotation_Transcript cNomen pNomen Consequence PPH prŽdiction HepG2 In-Frame Mutation CTNNB1 chr3 41265568 41266630 TCAAGGTTTGTGTCATTAAATCTTTAGTTACTGAATTGGGGCTCTGCTTCGTTGCCATTAAGCCAGTCTGGCTGAGATCCCCCTGCTTTCCTCTCTCCCTGCTTACTTGTCAGGCTACCTTTTGCTCCATTTTCTGCTCACTCCTCCTAATGGCTTGGTGAAATAGCAAACAAGCCACCAGCAGGAATCTAGTCTGGATGACTGCTTCTGGAGCCTGGATGCAGTACCATTCTTCCACTGATTCAGTGAGTAACTGTTAGGTGGTTCCCTAAGGGATTAGGTATTTCATCACTGAGCTAACCCTGGCTATCATTCTGCTTTTCTTGGCTGTCTTTCAGATTTGACTTTATTTCTAAAAATATTTCAATGGGTCATATCACAGATTCTTTTTTTTTAAATTAAAGTAACATTTCCAATCTACTAATGCTAATACTGTTTCGTATTTATAGCTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAGTTTTGAGAACTAAAAAGTTAGTGTATAATAGTTTAAATAAAATGTTGTGGTGAAGAAAAGAGAGTAATAGCAATGTCACTTTTACCATTTAGGATAGCAAATACTTAGGTAAATGCTGAACTGTGGATAGTGAGTGTTGAATTAACCTTTTCCAGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAACTATC - g.41265568_41266630del ENST00000349496.5 c.9_427del p.Ala5_Gln143del splice_donor_variant,splice_acceptor_variant,frameshift_variant,stop_lost,intron_variant damaging HepG2 In-Frame Mutation EME2 chr16 1825822 1825824 CTC - g.1825822_1825824delCTC ENST00000568449.1 c.806_808del p.Ser269del inframe_deletion damaging HepG2 In-Frame Mutation SLC26A11 chr17 78196558 78196560 CTT - g.78196560_78196562del ENST00000361193.3 c.341_343del p.Phe114del inframe_deletion damaging HepG2 In-Frame Mutation BPI chr20 36936015 36936016 - CAA g.36936015_36936016insCAA ENST00000262865.4 c.189_190insCAA p.Ile63_Lys64insGln inframe_insertion damaging HepG2 In-Frame Mutation GTF3C5 chr9 135933293 135933295 GAG - g.135933304_135933306del ENST00000372097.5 c.1497_1499del p.Glu499del inframe_deletion damaging Hep3B In-Frame Mutation TRIM64C chr11 49080591 49080592 - GGGTCTATG g.49080591_49080592insGGGTCTATG ENST00000530230.1 c.74_75insATAGACCCC p.Val26X stop_gained,inframe_insertion damaging Hep3B In-Frame Mutation RCE1 chr11 66610971 66610979 GCGGCCGGA - g.66610978_66610986del ENST00000309657.3 c.52_60del p.Glu18_Pro20del inframe_deletion damaging Hep3B In-Frame Mutation DUOX2 chr15 45394038 45394058 AGCTCGCTGTCATGGTCCCGC - g.45394038_45394058del ENST00000389039.6 c.2784_2804del p.Asp930_Arg936del inframe_deletion damaging Hep3B In-Frame Mutation TSHZ2 chr20 51870080 51870082 AAG - g.51870084_51870086del ENST00000371497.5 c.87_89del p.Glu34del inframe_deletion damaging Hep3B In-Frame Mutation IL17RC chr3 9959222 9959223 - TCTGGTCTT g.9959222_9959223insTCTGGTCTT ENST00000295981.3 c.223_224insTCTGGTCTT p.Leu74_Ser75insPheTrpSer inframe_insertion damaging Hep3B In-Frame Mutation MPDZ chr9 13196173 13196175 CTT - g.13196173_13196175del ENST00000319217.7 c.1601_1603del p.Glu534del inframe_deletion damaging HepaRG In-Frame Mutation NUDT17 chr1 145586670 145586675 ACTTTT - g.145586670_145586675del ENST00000334513.5 c.901_906del p.Lys301_Ser302del inframe_deletion damaging HepaRG In-Frame Mutation HIST1H3A chr6 26020735 26020740 AACTGC - g.26020735_26020740del ENST00000357647.3 c.18_23del p.Gln6_Ala8delinsHis inframe_deletion damaging HepaRG In-Frame Mutation CDKN1A chr6 36652015 36652029 GTGAGCGATGGAACT - g.36652015_36652029del ENST00000244741.5 c.137_151del p.Arg46_Phe51delinsLeu inframe_deletion damaging B1 In-Frame Mutation RAB44 chr6 36689831 36689832 - GGTGCA g.36689831_36689832insGGTGCA NM_001257357.1 c.1921_1922insGTGCAG p.Ala640_Val641insGlyAla inframe_insertion damaging HCC-3 In-Frame Mutation ASCC1 chr10 73862691 73862692 - ATAGATACTATGTTTTTTTTTCCTTTTTTTTGC g.73862691_73862692ins33 ENST00000342444.4 c.1075_1076insGCAAAAAAAAGGAAAAAAAAACATAGTATCTAT p.Asp359_Ser400delins8X stop_gained,protein_altering_variant damaging HCC-3 In-Frame Mutation RERGL chr12 18234192 18234193 - CCTGTGGGGAATTGTTCTCTTTCCTCTGTTGTCATCCTATCATTGACCTGACTGAGATACCAGAGATTGCCAAATTCTGGGGCTGCAGTTATGGCAGCACTTCTTTCATTTGGAGTGTCTGGTCTAGCAGTAACATTCTATGTCTCCATGTCA g.18234192_18234193ins153 ENST00000229002.2 c.550_551insTGACATGGAGACATAGAATGTTACTGCTAGACCAGACACTCCAAATGAAAGAAGTGCTGCCATAACTGCAGCCCCAGAATTTGGCAATCTCTGGTATCTCAGTCAGGTCAATGATAGGATGACAACAGAGGAAAGAGAACAATTCCCCACAGG p.Pro184_Val205delins21X stop_gained,protein_altering_variant damaging HCC-3 In-Frame Mutation CYFIP1 chr15 22954232 22954237 TGCAGG - g.22954235_22954240del ENST00000313077.7 c.1385_1390del p.Gln462_Val463del inframe_deletion damaging HCC-3 In-Frame Mutation GZF1 chr20 23345952 23345954 AGA - g.23345961_23345963del ENST00000338121.5 c.941_943del p.Lys314del inframe_deletion damaging HCC-3 In-Frame Mutation SFI1 chr22 32014362 32014363 - CTG g.32014362_32014363insCTG ENST00000400288.2 c.3687_3688insCTG p.Ala1229_Cys1230insLeu inframe_insertion damaging HCC-3 In-Frame Mutation ALDOB chr9 104192168 104192170 AGA - g.104192168_104192170del ENST00000374855.4 c.191_193del p.Phe64del inframe_deletion damaging HCC-3 In-Frame Mutation TSC1 chr9 135771988 135771989 - GCT g.135771988_135771989insGCT ENST00000298552.3 c.3128_3129insAGC p.Ser1043delinsArgAla protein_altering_variant damaging HCC-1.1 In-Frame Mutation ARHGAP29 chr1 94640194 94640199 ACATTG - g.94640194_94640199del ENST00000260526.6 c.3012_3017del p.Asn1004_Val1006delinsLys inframe_deletion damaging HCC-1.1 In-Frame Mutation C10orf90 chr10 128192896 128192897 - CGA g.128192896_128192897insCGA ENST00000284694.7 c.872_873insTCG p.Ser291_Leu292insArg inframe_insertion damaging HCC-1.1 In-Frame Mutation TRIM44 chr11 35684947 35684964 GGAAGAGAGTGAGTCGGA - g.35684956_35684973del ENST00000299413.5 c.297_314del p.Ser107_Glu112del inframe_deletion damaging HCC-1.1 In-Frame Mutation RNF10 chr12 120984355 120984356 - GCA g.120984355_120984356insGCA ENST00000325954.4 c.305_306insGCA p.Gly102_Ser103insHis inframe_insertion damaging HCC-1.1 In-Frame Mutation ARNTL2 chr12 27523083 27523084 - CGTGGTGGT g.27523083_27523084insCGTGGTGGT ENST00000266503.5 c.204_205insCGTGGTGGT p.Lys68_Val69insArgGlyGly inframe_insertion damaging HCC-1.1 In-Frame Mutation CEP128 chr14 81307094 81307096 CTT - g.81307094_81307096del ENST00000216517.6 c.779_781del p.Glu260del inframe_deletion damaging HCC-1.1 In-Frame Mutation DNMT1 chr19 10251514 10251522 GCAGCTTGG - g.10251514_10251522del ENST00000340748.4 c.3410_3418del p.Pro1137_Leu1139del inframe_deletion damaging SNU182 In-Frame Mutation MIER1 chr1 67452100 67452101 - CTT g.67452100_67452101insCTT ENST00000371018.3 c.1357_1358insCTT p.Leu453delinsProPhe protein_altering_variant damaging SNU182 In-Frame Mutation TMEM180 chr10 104230726 104230728 AAG - g.104230726_104230728del ENST00000238936.4 c.556_558del p.Lys186del inframe_deletion damaging SNU182 In-Frame Mutation RP11-166B2.1 chr16 12021341 12021342 - TGG g.12021341_12021342insTGG ENST00000399147.4 c.1082_1083insCCA p.361_361E>DQ protein_altering_variant damaging SNU182 In-Frame Mutation FBXL19 chr16 30939153 30939161 CCACCGCTT - g.30939160_30939168del ENST00000380310.2 c.563_571del p.Leu188_Pro190del inframe_deletion damaging SNU182 In-Frame Mutation RNMT chr18 13734469 13734471 GAA - g.13734473_13734475del ENST00000262173.3 c.428_430del p.Glu143del inframe_deletion damaging SNU387 In-Frame Mutation FRMD4A chr10 13698924 13698925 - CGC g.13698924_13698925insCGC ENST00000357447.2 c.2665_2666insCGG p.Gly888_Asp889insAla inframe_insertion damaging SNU387 In-Frame Mutation TECPR2 chr14 102904394 102904420 CTATGGCATCCTCAGCTTGGTGGTCTC - g.102904395_102904421del ENST00000359520.7 c.2431_2457del p.Tyr811_Ser819del inframe_deletion damaging SNU387 In-Frame Mutation MED26 chr19 16688184 16688185 - GGTCACCCC g.16688184_16688185insGGTCACCCC ENST00000263390.3 c.456_457insGGGGTGACC p.Asp152_Gln153insGlyValThr inframe_insertion damaging SNU387 In-Frame Mutation OCSTAMP chr20 45174858 45174869 AGCTGGGTCAGC - g.45174858_45174869del ENST00000279028.2 c.144_155del p.Thr50_Leu53del inframe_deletion damaging SNU387 In-Frame Mutation ARID1A chr1 27023909 27023923 GCTGCGGCGGCGGCA - g.27023923_27023937del ENST00000324856.7 c.1029_1043del p.Ala345_Ala349del inframe_deletion damaging SNU423 In-Frame Mutation RP11-166B2.1 chr16 12021341 12021342 - TGG g.12021341_12021342insTGG ENST00000399147.4 c.1082_1083insCCA p.361_361E>DQ protein_altering_variant damaging SNU423 In-Frame Mutation PABPN1L chr16 88932010 88932012 CTC - g.88932010_88932012del ENST00000378358.4 c.418_420del p.Glu140del inframe_deletion damaging SNU423 In-Frame Mutation DIAPH1 chr5 140953351 140953353 GGG - g.140953351_140953353del ENST00000253811.6 c.2064_2066del p.Pro693del inframe_deletion damaging SNU449 In-Frame Mutation ARID1A chr1 27100182 27100183 - GCA g.27100182_27100183insGCA ENST00000324856.7 c.3978_3979insGCA p.Pro1326_Gln1327insAla inframe_insertion damaging SNU449 In-Frame Mutation TMEM132B chr12 126139196 126139197 - ATTTTAAAATGTACAATTAAATTATTATTGACTATAATCATAGTCACCCTGCTG g.126139196_126139197ins54 ENST00000299308.3 c.3177_3178insATTTTAAAATGTACAATTAAATTATTATTGACTATAATCATAGTCACCCTGCTG p.Met1059_Gly1060ins18 inframe_insertion damaging SNU449 In-Frame Mutation KRTAP9-1 chr17 39346405 39346419 CTGCTGTGGGTCCAG - g.39346414_39346428del ENST00000398470.1 c.276_290del p.Ser93_Gly97del inframe_deletion damaging SNU449 In-Frame Mutation ADRA2B chr2 96780975 96780977 TCC - g.96780975_96780977delTCC ENST00000409345.3 c.912_914del p.307_308EE>E inframe_deletion damaging SNU449 In-Frame Mutation MYLK chr3 123337614 123337616 TCT - g.123337614_123337616del ENST00000360304.3 c.5370_5372del p.Glu1790del splice_acceptor_variant,coding_sequence_variant damaging SNU449 In-Frame Mutation MAGEC2 chrX 141291659 141291667 CTTCCTCCT - g.141291659_141291667del ENST00000247452.3 c.107_115del p.Glu36_Glu38del inframe_deletion damaging SNU475 In-Frame Mutation PHYKPL chr5 177651658 177651660 CTT - g.177651658_177651660del ENST00000308158.5 c.484_486del p.Lys162del inframe_deletion damaging SNU475 In-Frame Mutation ZSCAN21 chr7 99661857 99661859 CTT - g.99661860_99661862del ENST00000292450.4 c.1042_1044del p.Leu348del inframe_deletion damaging SNU475 In-Frame Mutation BCOR chrX 39933662 39933664 GCT - g.39933662_39933664del ENST00000342274.4 c.935_937del p.Gln312del inframe_deletion damaging Huh7 In-Frame Mutation DNAH17 chr17 76506522 76506527 CGTAAC - g.76506522_76506527del NM_173628.3 c.4175_4180del p.Ser1392_Glu1394delinsLys inframe_deletion damaging Huh7 In-Frame Mutation PTPN23 chr3 47452858 47452859 - TCT g.47452858_47452859insTCT ENST00000265562.4 c.3570_3571insTCT p.Ala1190_Leu1191insSer inframe_insertion damaging Huh7 In-Frame Mutation PABPC4L chr4 135122031 135122054 GCGGGTGACCTGGTCCCTGCAAAT - g.135122031_135122054del ENST00000529122.2 c.295_318del p.Ile99_Arg106del inframe_deletion damaging Huh7 In-Frame Mutation HFE chr6 26092982 26092984 ACT - g.26092987_26092989del ENST00000309234.6 c.691_693del p.Tyr231del inframe_deletion damaging Huh7 In-Frame Mutation GAL3ST4 chr7 99758490 99758501 GGATTTATAGTA - g.99758490_99758501del ENST00000360039.4 c.511_522del p.Tyr171_Ser174del inframe_deletion damaging Mahlavu In-Frame Mutation NUFIP1 chr13 45517711 45517722 TAACAGTTGCTT - g.45517711_45517722del ENST00000379161.4 c.1226_1237del p.Lys409_Val412del inframe_deletion damaging Mahlavu In-Frame Mutation VSX2 chr14 74727548 74727549 - GAG g.74727548_74727549insGAG ENST00000261980.2 c.1012_1013insGAG p.Pro337_Glu338insGly inframe_insertion damaging Mahlavu In-Frame Mutation USP31 chr16 23080146 23080151 GGGCAG - g.23080146_23080151del ENST00000219689.7 c.3275_3280del p.Pro1092_Ala1093del inframe_deletion damaging Mahlavu In-Frame Mutation CREBBP chr16 3779071 3779079 TCCCCGGGG - g.3779071_3779079del ENST00000262367.5 c.5969_5977del p.Thr1990_Gly1992del inframe_deletion damaging Mahlavu In-Frame Mutation NANOS3 chr19 13988559 13988560 - GAG g.13988559_13988560insGAG ENST00000339133.5 c.497_498insGAG p.Arg166dup inframe_insertion damaging Mahlavu In-Frame Mutation DNAJC28 chr21 34860534 34860602 TCAAAATGATCGTATTTTAATAAATTTCCACAGATTCATCCAGTTTAAAAAACCTTTCTTGATTTCAGG - g.34860534_34860602del ENST00000314399.3 c.1099_1167del p.Pro367_Phe388delinsCysLeuLeuSer stop_lost,inframe_deletion damaging Mahlavu In-Frame Mutation GRIK2 chr6 102124570 102124572 CTG - g.102124573_102124575del ENST00000318991.6 c.617_619del p.Ala206del inframe_deletion damaging Mahlavu In-Frame Mutation HOXA3 chr7 27150179 27150181 ATT - g.27150179_27150181del ENST00000317201.2 c.79_81del p.Asn27del inframe_deletion damaging Mahlavu In-Frame Mutation UNC5D chr8 35631863 35631868 TCCCTG - g.35631863_35631868del ENST00000404895.2 c.2525_2530del p.Phe842_Ala844delinsSer inframe_deletion damaging Mahlavu In-Frame Mutation RP11-706O15.1 chrX 3736507 3736509 CTT - g.3736507_3736509delCTT ENST00000425492.2 c.204_206del p.68_69RR>R inframe_deletion damaging PLC/PRF5 In-Frame Mutation PRG4 chr1 186273952 186273957 TCCTCC - g.186273966_186273971del ENST00000445192.2 c.510_515del p.Ser176_Ser177del inframe_deletion damaging PLC/PRF5 In-Frame Mutation GBF1 chr10 104118328 104118330 GTG - g.104118330_104118332del ENST00000369983.3 c.855_857del p.Val286del inframe_deletion damaging PLC/PRF5 In-Frame Mutation MKI67 chr10 129905754 129905755 - GCTGGG g.129905754_129905755insGCTGGG ENST00000368654.3 c.4349_4350insCCCAGC p.Gly1450_Ser1451insProAla inframe_insertion damaging PLC/PRF5 In-Frame Mutation TMEM200C chr18 5891376 5891417 GGCGGCGGCCGCGGCGGCGGCCGCGGCGGCCGCCAGGTCTTT - g.5891376_5891417del ENST00000383490.2 c.646_687del p.Lys216_Ala229del inframe_deletion damaging PLC/PRF5 In-Frame Mutation ARID1A chr1 27023022 27023023 - GGC g.27023020_27023022dup ENST00000324856.7 c.126_128dup p.Ala45dup inframe_insertion damaging HLE In-Frame Mutation SALL2 chr14 21991334 21991335 - GGT g.21991334_21991335insGGT ENST00000327430.3 c.2527_2528insACC p.Pro842_Pro843insHis inframe_insertion damaging HLE In-Frame Mutation MYH4 chr17 10359135 10359140 AGTTTT - g.10359135_10359140del ENST00000255381.2 c.2047_2052del p.Lys683_Thr684del inframe_deletion damaging HLE In-Frame Mutation KRTAP13-1 chr21 31768472 31768474 CCT - g.31768478_31768480del ENST00000355459.2 c.74_76del p.Ser25del inframe_deletion damaging HLE In-Frame Mutation CENPM chr22 42343029 42343031 TGG - g.42343029_42343031del ENST00000215980.5 c.50_52del p.Thr17del inframe_deletion damaging HLE In-Frame Mutation C3orf62 chr3 49314137 49314139 AGA - g.49314137_49314139del ENST00000343010.3 c.167_169del p.Phe56del inframe_deletion damaging HLE In-Frame Mutation FAM189A2 chr9 72003319 72003321 GAG - g.72003322_72003324del ENST00000257515.8 c.1105_1107del p.Glu369del inframe_deletion damaging HLF In-Frame Mutation SALL2 chr14 21991334 21991335 - GGT g.21991334_21991335insGGT ENST00000327430.3 c.2527_2528insACC p.Pro842_Pro843insHis inframe_insertion damaging HLF In-Frame Mutation PHF23 chr17 7139476 7139484 TCCTCTTCC - g.7139476_7139484del ENST00000320316.3 c.762_770del p.Glu259_Glu261del inframe_deletion damaging HLF In-Frame Mutation CENPM chr22 42343029 42343031 TGG - g.42343029_42343031del ENST00000215980.5 c.50_52del p.Thr17del inframe_deletion damaging HLF In-Frame Mutation C3orf62 chr3 49314137 49314139 AGA - g.49314137_49314139del ENST00000343010.3 c.167_169del p.Phe56del inframe_deletion damaging HLF In-Frame Mutation FAM189A2 chr9 72003319 72003321 GAG - g.72003322_72003324del ENST00000257515.8 c.1105_1107del p.Glu369del inframe_deletion damaging Huh6 In-Frame Mutation NT5DC3 chr12 104186946 104186948 GCT - g.104186946_104186948del ENST00000392876.3 c.1013_1015del p.Lys338del inframe_deletion damaging Huh6 In-Frame Mutation FLII chr17 18150110 18150112 TCC - g.18150110_18150112del ENST00000327031.4 c.2847_2849del p.Glu950del inframe_deletion damaging Huh6 In-Frame Mutation SUPT20HL1 chrX 24382508 24382525 CTGCTCCTGCTCCTGCCG - g.24382519_24382536del NM_001136234.1 c.1642_1659del p.Pro548_Ala553del inframe_deletion damaging Huh6 In-Frame Mutation SORBS2 chr4 186533019 186533021 TTC - g.186533019_186533021del ENST00000284776.7 c.2997_2999del p.Lys999del inframe_deletion damaging Li7 In-Frame Mutation ASPM chr1 197074046 197074047 - AGCTTTTACTTGTGA g.197074046_197074047ins15 ENST00000367409.4 c.4335_4336insCACAAGTAAAAGCTT p.Thr1446_Tyr3477delinsHisLysX stop_gained,inframe_insertion damaging Li7 In-Frame Mutation WSCD1 chr17 6023701 6023724 AGCGGCTGCTGGTGGTGCACTACG - g.6023703_6023726del ENST00000317744.5 c.1450_1473del p.Arg484_Glu491del inframe_deletion damaging Li7 In-Frame Mutation HECW2 chr2 197184102 197184122 AGATGTCAGGCTTCCATCATC - g.197184102_197184122del ENST00000260983.3 c.1492_1512del p.Asp498_Ser504del inframe_deletion damaging Li7 In-Frame Mutation WFDC9 chr20 44237437 44237439 ATC - g.44237437_44237439del ENST00000326000.1 c.102_104del p.Met34del inframe_deletion damaging Li7 In-Frame Mutation TFR2 chr7 100225010 100225021 CTGGGCCACGGC - g.100225010_100225021del ENST00000223051.3 c.1861_1872del p.Ala621_Gln624del inframe_deletion damaging Huh1 In-Frame Mutation ZBTB21 chr21 43412989 43412990 - GAT g.43412989_43412990insGAT ENST00000310826.5 c.1215_1216insATC p.His405_Arg406insIle inframe_insertion damaging Huh1 In-Frame Mutation UGT2B11 chr4 70066307 70066475 GGGCTGCAACTCGAAGGTGTTTGGCTCCTTTGTGGGGCATGACAAATTCAATCCAGAAGACTGCTCGATCCAGGGGCTTTACTGGTTGATCATGTTGAATTCTTGATAATTTCATAATATTCTCTTTATATCTGAAGGATAAAAATAAGGATACCAACACTGAAAGTAA - g.70066307_70066475del ENST00000446444.1 c.1311-38_1441del p.L437_splice splice_acceptor_variant,coding_sequence_variant,intron_variant damaging Huh1 In-Frame Mutation PROB1 chr5 138728094 138728096 AGT - g.138728094_138728096del ENST00000434752.2 c.2675_2677del p.Tyr892del inframe_deletion damaging Huh1 In-Frame Mutation ASCC3 chr6 101307022 101307054 TCTTCTCATCCTCCTCTTTTCCATCCAGCCTCC - g.101307022_101307054del ENST00000369143.2 c.266_298del p.Arg89_Lys99del inframe_deletion damaging Huh1 In-Frame Mutation HLA-DRB1 chr6 32552130 32552131 - ACCCGTAGAGTACTCCAAGAA g.32552130_32552131ins21 ENST00000360004.5 c.125_126insTTCTTGGAGTACTCTACGGGT p.Arg42delins8 protein_altering_variant damaging Huh1 In-Frame Mutation CRH chr8 67089559 67089560 - GCG g.67089559_67089560insGCG ENST00000276571.3 c.154_155insGCC p.Pro51_Gln52insArg inframe_insertion damaging JHH1 In-Frame Mutation PRDM2 chr1 14105137 14105138 - GAT g.14105137_14105138insGAT ENST00000235372.7 c.847_848insGAT p.Asp283delinsGlyTyr protein_altering_variant damaging JHH1 In-Frame Mutation LDHAL6B chr15 59499768 59499770 GCG - g.59499770_59499772del ENST00000307144.4 c.631_633del p.Gly211del inframe_deletion damaging JHH1 In-Frame Mutation AATF chr17 35307591 35307592 - ACACACAGCAGAAAACACCAATACTAAGAAAAAATATGGCACTTACTTCAATGAGGAAGGCTG g.35307591_35307592ins63 ENST00000225402.5 c.169_170insACACACAGCAGAAAACACCAATACTAAGAAAAAATATGGCACTTACTTCAATGAGGAAGGCTG p.Arg57delins22 protein_altering_variant damaging JHH1 In-Frame Mutation SOX15 chr17 7492921 7492923 GAG - g.7492921_7492923del ENST00000250055.2 c.72_74del p.Ser27del inframe_deletion damaging JHH1 In-Frame Mutation NGEF chr2 233785160 233785162 TCT - g.233785160_233785162del ENST00000264051.3 c.660_662del p.Glu226del inframe_deletion damaging JHH1 In-Frame Mutation FAM189A2 chr9 72003319 72003321 GAG - g.72003322_72003324del ENST00000257515.8 c.1105_1107del p.Glu369del inframe_deletion damaging JHH2 In-Frame Mutation PHRF1 chr11 607470 607472 AGA - g.607474_607476del ENST00000416188.2 c.2015_2017del p.Arg672del inframe_deletion damaging JHH2 In-Frame Mutation ACSM3 chr16 20808270 20808272 GAA - g.20808273_20808275del ENST00000289416.5 c.1740_1742del p.Lys581del inframe_deletion damaging JHH2 In-Frame Mutation LRP2 chr2 170063198 170063200 GTT - g.170063198_170063200del ENST00000263816.3 c.7030_7032del p.Asn2344del inframe_deletion damaging JHH2 In-Frame Mutation KPNA7 chr7 98771410 98771412 TCT - g.98771410_98771412del ENST00000327442.6 c.1470_1472del p.Glu490del (Splice) inframe_deletion,splice_region_variant damaging JHH2 In-Frame Mutation CRH chr8 67089559 67089560 - GCG g.67089559_67089560insGCG ENST00000276571.3 c.154_155insGCC p.Pro51_Gln52insArg inframe_insertion damaging JHH4 In-Frame Mutation AXDND1 chr1 179504038 179504040 AAC - g.179504043_179504045del ENST00000367618.3 c.2977_2979del p.Gln993del inframe_deletion damaging JHH4 In-Frame Mutation TMEM180 chr10 104230726 104230728 AAG - g.104230726_104230728del ENST00000238936.4 c.556_558del p.Lys186del inframe_deletion damaging JHH4 In-Frame Mutation TTN chr2 179422685 179422687 AAT - g.179422685_179422687del ENST00000342992.6 c.79690_79692del p.Ile26564del inframe_deletion damaging JHH4 In-Frame Mutation NCL chr2 232325460 232325462 TCC - g.232325460_232325462del ENST00000322723.4 c.729_731del p.Glu243del inframe_deletion damaging JHH4 In-Frame Mutation PRIMPOL chr4 185615676 185615678 GAA - g.185615681_185615683del ENST00000314970.6 c.1431_1433del p.Glu478del inframe_deletion damaging JHH5 In-Frame Mutation DFFB chr1 3782497 3782499 CCT - g.3782500_3782502del ENST00000338895.3 c.366_368del p.Leu123del inframe_deletion damaging JHH5 In-Frame Mutation TP53 chr17 7578269 7578280 GATGCTGAGGAG - g.7578269_7578280del ENST00000269305.4 c.569_580del p.Pro190_His193del inframe_deletion damaging JHH5 In-Frame Mutation PLA2R1 chr2 160832734 160832736 CAT - g.160832734_160832736del ENST00000283243.7 c.2438_2440del p.Asp813del (Splice) inframe_deletion,splice_region_variant damaging JHH5 In-Frame Mutation KRTAP6-3 chr21 31964911 31964931 TGGCTATGGAGGCCTGGACTG - g.31964928_31964948del NM_181605.3 c.164_184del p.Asp55_Leu61del inframe_deletion damaging JHH5 In-Frame Mutation CSRNP1 chr3 39185165 39185197 GGCTGGAAGCCAGGGCCAGGCAGGCCTGGGTGG - g.39185165_39185197del ENST00000273153.5 c.1119_1151del p.His374_Pro384del inframe_deletion damaging JHH5 In-Frame Mutation OR6B1 chr7 143701931 143701933 CTT - g.143701933_143701935del ENST00000408922.2 c.844_846del p.Ser282del inframe_deletion damaging JHH6 In-Frame Mutation AMER2 chr13 25744837 25744838 - CTCGGGGGGTGCCCGGGGCTT g.25744837_25744838ins21 ENST00000515384.1 c.920_921insAAGCCCCGGGCACCCCCCGAG p.Glu307_Pro308ins7 inframe_insertion damaging JHH6 In-Frame Mutation UGGT2 chr13 96555122 96555127 TTTTAA - g.96555122_96555127del ENST00000376747.3 c.2483_2488del p.Ile828_Lys829del inframe_deletion damaging JHH6 In-Frame Mutation ZNF260 chr19 37005316 37005321 GGGTTT - g.37005316_37005321del ENST00000523638.1 c.820_825del p.Lys274_Pro275del inframe_deletion damaging JHH6 In-Frame Mutation MAST4 chr5 66461181 66461183 CTC - g.66461184_66461186del ENST00000403625.2 c.6177_6179del p.Ser2060del inframe_deletion damaging JHH6 In-Frame Mutation DTNBP1 chr6 15663043 15663047 ACCCG - g.15663043_15663047del ENST00000338950.5 c.54_56+2del p.Gly19del splice_donor_variant,coding_sequence_variant damaging JHH6 In-Frame Mutation OR6B1 chr7 143701931 143701933 CTT - g.143701933_143701935del ENST00000408922.2 c.844_846del p.Ser282del inframe_deletion damaging JHH6 In-Frame Mutation MTDH chr8 98657007 98657009 GGC - g.98657013_98657015del ENST00000336273.3 c.279_281del p.Ala94del inframe_deletion damaging JHH7 In-Frame Mutation SLC16A1 chr1 113460320 113460322 TCT - g.113460320_113460322del ENST00000369626.3 c.706_708del p.Arg236del inframe_deletion damaging JHH7 In-Frame Mutation ITPR2 chr12 26709269 26709289 TCATTGGGCTGAACTGGTGCT - g.26709269_26709289del ENST00000381340.3 c.4841_4861del p.Glu1614_Met1621delinsVal inframe_deletion damaging JHH7 In-Frame Mutation RP11-166B2.1 chr16 12021341 12021342 - TGG g.12021341_12021342insTGG ENST00000399147.4 c.1082_1083insCCA p.361_361E>DQ protein_altering_variant damaging JHH7 In-Frame Mutation AXIN1 chr16 396700 396744 TCCTGCTTCAGGAAAGTCCTGAACAGGCTTATCCCATCTTGGTCA - g.396700_396744del ENST00000262320.3 c.282_326del p.Asp94_Gln108del inframe_deletion damaging JHH7 In-Frame Mutation FABP2 chr4 120240701 120240703 TCA - g.120240701_120240703del ENST00000274024.3 c.336_338del p.Asp112del inframe_deletion damaging SNU354 In-Frame Mutation SLC38A2 chr12 46764574 46764576 CTT - g.46764574_46764576del ENST00000256689.5 c.181_183del p.Lys61del inframe_deletion damaging SNU354 In-Frame Mutation TSNAXIP1 chr16 67859913 67859915 TTC - g.67859917_67859919del ENST00000388833.3 c.920_922del p.Phe307del inframe_deletion damaging SNU354 In-Frame Mutation TNFSF9 chr19 6531234 6531263 GGCTCCGCGGCCAGCCCGAGACTCCGCGAG - g.6531236_6531265del ENST00000245817.3 c.189_218del p.Ser64_Gly73del inframe_deletion damaging SNU354 In-Frame Mutation AK9 chr6 109980446 109980454 CTCTTCTTC - g.109980446_109980454del ENST00000285397.5 c.607_615del p.Glu203_Glu205del inframe_deletion damaging SNU368 In-Frame Mutation DEDD chr1 161092121 161092122 - AAAAAAGAATATAAAATTCAGAAATTATTTTGAGACATTTGATAATCGATAAGCTTTTAA g.161092121_161092122ins60 ENST00000368006.3 c.772_773insTTAAAAGCTTATCGATTATCAAATGTCTCAAAATAATTTCTGAATTTTATATTCTTTTTT p.Ala258delins21 protein_altering_variant damaging SNU368 In-Frame Mutation SDS chr12 113830948 113830950 TCA - g.113830948_113830950del ENST00000257549.4 c.783_785del p.Asp261del (Splice) inframe_deletion,splice_region_variant damaging SNU368 In-Frame Mutation SPTBN4 chr19 41074112 41074120 GAGCGGCGT - g.41074120_41074128del ENST00000352632.3 c.6888_6896del p.Glu2297_Arg2299del inframe_deletion damaging SNU368 In-Frame Mutation ALMS1 chr2 73717400 73717402 TCA - g.73717400_73717402delTCA ENST00000264448.6 c.8315_8317del p.S2774del inframe_deletion damaging SNU739 In-Frame Mutation SIGLEC6 chr19 52034110 52034115 GGGCGT - g.52034110_52034115del ENST00000343300.4 c.526_531del p.Thr176_Pro177del inframe_deletion damaging SNU739 In-Frame Mutation CEP19 chr3 196434521 196434523 CTT - g.196434521_196434523del ENST00000409690.3 c.403_405del p.Lys135del inframe_deletion damaging SNU739 In-Frame Mutation CITED2 chr6 139694491 139694502 GCCGCTGCCGCC - g.139694491_139694502del ENST00000367651.2 c.580_591del p.Gly194_Gly197del inframe_deletion damaging SNU761 In-Frame Mutation DCLRE1C chr10 14951099 14951101 CTT - g.14951099_14951101del ENST00000378278.2 c.1385_1387del p.Glu462del inframe_deletion damaging SNU761 In-Frame Mutation ZWINT chr10 58120977 58120982 CTCTGT - g.58120977_58120982del ENST00000361148.6 c.16_21del p.Thr6_Glu7del inframe_deletion damaging SNU761 In-Frame Mutation RPS27L chr15 63448682 63448687 TTCCTC - g.63448682_63448687del ENST00000330964.5 c.40_45del p.Glu14_Glu15del inframe_deletion damaging SNU761 In-Frame Mutation AKAP13 chr15 86262395 86262433 TGAGCAGCAGATGGTAGAAAAGCTGTTCCCCTGTTTGGA - g.86262400_86262438del NM_001270546.1 c.1958_1996del p.Gln653_Glu665del inframe_deletion damaging SNU761 In-Frame Mutation PLIN4 chr19 4511731 4511732 - TGTAGTGTCCAGGCCCCCCTGGAC g.4511731_4511732ins24 ENST00000301286.3 c.2198_2199insGTCCAGGGGGGCCTGGACACTACA p.Ala733_Ile734ins8 inframe_insertion damaging SNU761 In-Frame Mutation BMP6 chr6 7727523 7727524 - AGC g.7727523_7727524insAGC ENST00000283147.6 c.335_336insAGC p.Glu112_Gln113insAla inframe_insertion damaging SNU878 In-Frame Mutation ZRANB2 chr1 71536548 71536550 TGA - g.71536548_71536550del ENST00000254821.6 c.643_645del p.Ser215del inframe_deletion damaging SNU878 In-Frame Mutation CATSPER2 chr15 43924553 43924554 - CCA g.43924553_43924554insCCA ENST00000321596.5 c.1404_1405insTGG p.Leu468_Asp469insTrp inframe_insertion damaging SNU878 In-Frame Mutation FOXF2 chr6 1391086 1391087 - GGC g.1391086_1391087insGGC ENST00000259806.1 c.905_906insGCG p.Gly302_Gly303insArg inframe_insertion damaging SNU886 In-Frame Mutation RNF111 chr15 59323502 59323504 GTC - g.59323502_59323504del ENST00000348370.4 c.481_483del p.Val161del inframe_deletion damaging SNU886 In-Frame Mutation CYP2A13 chr19 41596006 41596007 - CCA g.41596006_41596007insCCA ENST00000330436.3 c.399_400insCAC p.Ala133_Thr134insHis inframe_insertion damaging SNU886 In-Frame Mutation ARHGEF26 chr3 153840191 153840196 CGCCGC - g.153840202_153840207del ENST00000356448.4 c.421_426del p.Pro141_Pro142del inframe_deletion damaging SNU886 In-Frame Mutation ARRDC1 chr9 140509161 140509166 GAGGCT - g.140509174_140509179del ENST00000371421.4 c.959_964del p.Glu320_Ala321del inframe_deletion damaging MHCC97H In-Frame Mutation KIAA0226L chr13 46936714 46936716 ATC - g.46936714_46936716del ENST00000378787.3 c.943_945del p.Asp315del inframe_deletion damaging MHCC97H In-Frame Mutation SETD1A chr16 30982868 30982873 TGAAGA - g.30982874_30982879del ENST00000262519.8 c.3192_3197del p.Asp1064_Glu1065del inframe_deletion damaging MHCC97H In-Frame Mutation PSMD7 chr16 74339609 74339617 AGGAGAAAA - g.74339620_74339628del ENST00000219313.4 c.964_972del p.Glu322X inframe_deletion damaging MHCC97H In-Frame Mutation SLC6A16 chr19 49796599 49796601 GAA - g.49796599_49796601del ENST00000335875.4 c.1657_1659del p.Phe553del inframe_deletion damaging MHCC97H In-Frame Mutation CTDSP1 chr2 219268037 219268038 - GGG g.219268038_219268040dup ENST00000273062.2 c.556_558dup p.Gly186dup inframe_insertion damaging MHCC97H In-Frame Mutation CTNNB1 chr3 41266101 41266358 CTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAGTTTTGAGAACTAAAAAGTTAGTGTATAATAGTTTAAATAAAATGTTGTGGTGAAGAAAAGAGAGTAATA - g.41266101_41266358del ENST00000349496.5 c.98_242-87del p.Ser33_Asp81delinsTyr splice_donor_variant,coding_sequence_variant,intron_variant damaging MHCC97H In-Frame Mutation MAP3K4 chr6 161508867 161508869 CTT - g.161508869_161508871del ENST00000348824.7 c.2706_2708del p.Leu903del inframe_deletion damaging MHCC97H In-Frame Mutation TNRC18 chr7 5427943 5427944 - GGT g.5427943_5427944insGGT ENST00000399537.4 c.1511_1512insACC p.Thr504_Gly505insPro inframe_insertion damaging MHCC97H In-Frame Mutation RP1L1 chr8 10467515 10467517 CTC - g.10467515_10467517del ENST00000382483.3 c.4091_4093del p.Gly1364del inframe_deletion damaging MHCC97H In-Frame Mutation RBMXL3 chrX 114425208 114425453 GGGGGCCGCAACAGTTCCAGCAACAGTTACGGCCAGAGCCACCACTATGGAGGAGAAGGCCGCTATGAGGAGTACCGAGGCCGCTCACACGAGGCCCGCAGCGGGGGCCGCTCCACTGATGCCCACAGCAGGGGCCGGTCCGACGACGCCTACAGTGGGGGCCATGACAGTTCCAGCTGGAGCGACTGCTGCGGAGGAGGAGGCCGTTATGAGGAGTACCAAGGCCGCTCGCTGGATGCCAACAGT - g.114425210_114425455del ENST00000424776.3 c.1206_1451del p.Arg404_Gly485del inframe_deletion NA HepG2 Missense Mutation CHIA chr1 111857987 111857987 T C g.111857987T>C ENST00000343320.6 c.410T>C p.Phe137Ser missense_variant probably damaging HepG2 Missense Mutation AP4B1 chr1 114442837 114442837 T C g.114442837T>C ENST00000256658.4 c.803A>G p.His268Arg missense_variant benign HepG2 Missense Mutation NRAS chr1 115256529 115256529 T A g.115256529T>A ENST00000369535.4 c.182A>T p.Gln61Leu missense_variant probably damaging HepG2 Missense Mutation DVL1 chr1 1284367 1284367 G A g.1284367G>A ENST00000378888.5 c.79C>T p.Arg27Cys missense_variant probably damaging HepG2 Missense Mutation HNRNPCL1 chr1 12907794 12907794 G A g.12907794G>A ENST00000317869.6 c.349C>T p.Arg117Trp missense_variant probably damaging HepG2 Missense Mutation SEMA6C chr1 151105616 151105616 G A g.151105616G>A ENST00000341697.3 c.2137C>T p.Arg713Cys missense_variant probably damaging HepG2 Missense Mutation PSMB4 chr1 151372091 151372091 G A g.151372091G>A ENST00000290541.6 c.28G>A p.Gly10Arg missense_variant benign HepG2 Missense Mutation FLG chr1 152275598 152275598 A T g.152275598A>T ENST00000368799.1 c.11764T>A p.Ser3922Thr missense_variant possibly damaging HepG2 Missense Mutation KAZN chr1 15386706 15386706 G C g.15386706G>C ENST00000376030.2 c.955G>C p.Val319Leu missense_variant benign HepG2 Missense Mutation INSRR chr1 156823861 156823861 G A g.156823861G>A ENST00000368195.3 c.320C>T p.Thr107Met missense_variant possibly damaging HepG2 Missense Mutation KCNT2 chr1 196295883 196295883 T G g.196295883T>G ENST00000294725.9 c.2240A>C p.Lys747Thr missense_variant benign HepG2 Missense Mutation KDM5B chr1 202698963 202698963 A G g.202698963A>G ENST00000367265.3 c.4369T>C p.Tyr1457His missense_variant benign HepG2 Missense Mutation C1orf65 chr1 223566909 223566909 T C g.223566909T>C ENST00000366875.3 c.92T>C p.Leu31Pro missense_variant benign HepG2 Missense Mutation TAF5L chr1 229737995 229737995 G A g.229737995G>A ENST00000258281.2 c.919C>T p.His307Tyr missense_variant probably damaging HepG2 Missense Mutation RYR2 chr1 237660048 237660048 G C g.237660048G>C ENST00000366574.2 c.2199G>C p.Trp733Cys missense_variant probably damaging HepG2 Missense Mutation KIF26B chr1 245772763 245772763 C T g.245772763C>T ENST00000407071.2 c.1847C>T p.Thr616Met missense_variant probably damaging HepG2 Missense Mutation BAI2 chr1 32203866 32203866 G A g.32203866G>A ENST00000257070.4 c.2707C>T p.His903Tyr missense_variant probably damaging HepG2 Missense Mutation KIAA1522 chr1 33236360 33236360 G A g.33236360G>A ENST00000373480.1 c.1403G>A p.Arg468His missense_variant probably damaging HepG2 Missense Mutation MUTYH chr1 45797519 45797519 G C g.45797519G>C ENST00000372098.3 c.991C>G p.Pro331Ala (Splice) missense_variant,splice_region_variant benign HepG2 Missense Mutation PLEKHG5 chr1 6556600 6556600 G C g.6556600G>C ENST00000400915.3 c.34C>G p.Leu12Val missense_variant possibly damaging HepG2 Missense Mutation DNAJC6 chr1 65877013 65877013 G C g.65877013G>C ENST00000395325.3 c.2544G>C p.Glu848Asp missense_variant probably damaging HepG2 Missense Mutation BRDT chr1 92446270 92446270 A C g.92446270A>C ENST00000362005.3 c.1358A>C p.Glu453Ala missense_variant possibly damaging HepG2 Missense Mutation SEMA4G chr10 102740673 102740673 G A g.102740673G>A ENST00000210633.3 c.1562G>A p.Arg521Gln missense_variant probably damaging HepG2 Missense Mutation DPYSL4 chr10 134012451 134012451 G A g.134012451G>A ENST00000338492.4 c.787G>A p.Ala263Thr missense_variant benign HepG2 Missense Mutation STK32C chr10 134021615 134021615 C T g.134021615C>T ENST00000298630.3 c.1360G>A p.Ala454Thr missense_variant benign HepG2 Missense Mutation LRRC27 chr10 134165215 134165215 G A g.134165215G>A ENST00000368613.4 c.1031G>A p.Arg344Gln missense_variant benign HepG2 Missense Mutation CUBN chr10 16916460 16916460 C T g.16916460C>T ENST00000377833.4 c.9149G>A p.Ser3050Asn missense_variant possibly damaging HepG2 Missense Mutation RET chr10 43608351 43608351 G A g.43608351G>A ENST00000340058.5 c.1699G>A p.Asp567Asn missense_variant probably damaging HepG2 Missense Mutation AKR1C3 chr10 5138723 5138723 T C g.5138723T>C ENST00000380554.3 c.206T>C p.Ile69Thr missense_variant probably damaging HepG2 Missense Mutation MICU1 chr10 74293508 74293508 C T g.74293508C>T ENST00000361114.5 c.533G>A p.Gly178Glu missense_variant benign HepG2 Missense Mutation ZCCHC24 chr10 81192477 81192477 T C g.81192477T>C ENST00000372336.3 c.284A>G p.Tyr95Cys missense_variant probably damaging HepG2 Missense Mutation BMPR1A chr10 88683426 88683426 A G g.88683426A>G ENST00000372037.3 c.1549A>G p.Ile517Val missense_variant benign HepG2 Missense Mutation ATM chr11 108224537 108224537 G A g.108224537G>A ENST00000278616.4 c.8716G>A p.Val2906Ile missense_variant probably damaging HepG2 Missense Mutation MUC5B chr11 1248025 1248025 C T g.1248025C>T ENST00000447027.1 c.380C>T p.Pro127Leu missense_variant possibly damaging HepG2 Missense Mutation NCAPD3 chr11 134062645 134062645 C G g.134062645C>G ENST00000525964.2 c.1984G>C p.Asp662His missense_variant,NMD_transcript_variant possibly damaging HepG2 Missense Mutation OR4C15 chr11 55322170 55322170 A T g.55322170A>T ENST00000314644.2 c.388A>T p.Ile130Phe missense_variant benign HepG2 Missense Mutation OR1S2 chr11 57971241 57971241 G T g.57971241G>T ENST00000302592.6 c.413C>A p.Ala138Glu missense_variant probably damaging HepG2 Missense Mutation TCN1 chr11 59623521 59623521 A G g.59623521A>G ENST00000257264.3 c.758T>C p.Val253Ala missense_variant probably damaging HepG2 Missense Mutation KCNK4 chr11 64067152 64067152 G T g.64067152G>T ENST00000394525.2 c.1136G>T p.Arg379Leu missense_variant probably damaging HepG2 Missense Mutation C2CD3 chr11 73806428 73806428 A T g.73806428A>T ENST00000313663.7 c.3005T>A p.Met1002Lys missense_variant possibly damaging HepG2 Missense Mutation KIAA1731 chr11 93462846 93462846 C T g.93462846C>T ENST00000325212.6 c.7466C>T p.Ser2489Leu missense_variant benign HepG2 Missense Mutation AMOTL1 chr11 94602416 94602416 C A g.94602416C>A ENST00000433060.2 c.2542C>A p.Pro848Thr missense_variant benign HepG2 Missense Mutation DEPDC4 chr12 100660787 100660787 A C g.100660787A>C ENST00000299185.8 c.68T>G p.Leu23Arg missense_variant,NMD_transcript_variant probably damaging HepG2 Missense Mutation KIAA1033 chr12 105515951 105515951 T A g.105515951T>A ENST00000332180.5 c.721T>A p.Leu241Ile missense_variant probably damaging HepG2 Missense Mutation ADAMTS20 chr12 43840426 43840426 T C g.43840426T>C ENST00000389420.3 c.2169A>G p.Ile723Met missense_variant benign HepG2 Missense Mutation PRIM1 chr12 57127957 57127957 C T g.57127957C>T ENST00000338193.6 c.1217G>A p.Arg406Gln missense_variant possibly damaging HepG2 Missense Mutation CAPS2 chr12 75715191 75715191 T C g.75715191T>C ENST00000409445.3 c.514A>G p.Ile172Val missense_variant benign HepG2 Missense Mutation PLXNC1 chr12 94641743 94641743 T G g.94641743T>G ENST00000258526.4 c.2453T>G p.Val818Gly missense_variant benign HepG2 Missense Mutation ELK3 chr12 96641033 96641033 C G g.96641033C>G ENST00000228741.3 c.523C>G p.Pro175Ala missense_variant benign HepG2 Missense Mutation LAMP1 chr13 113976709 113976709 G C g.113976709G>C ENST00000332556.4 c.1227G>C p.Arg409Ser missense_variant probably damaging HepG2 Missense Mutation GJA3 chr13 20717069 20717069 G A g.20717069G>A ENST00000241125.3 c.359C>T p.Pro120Leu missense_variant benign HepG2 Missense Mutation GJA3 chr13 20717071 20717071 G C g.20717071G>C ENST00000241125.3 c.357C>G p.Ser119Arg missense_variant benign HepG2 Missense Mutation SPATA13 chr13 24797993 24797993 G T g.24797993G>T ENST00000382108.3 c.926G>T p.Arg309Met missense_variant unknown HepG2 Missense Mutation TNFSF11 chr13 43180951 43180951 G A g.43180951G>A ENST00000239849.6 c.851G>A p.Arg284Gln missense_variant probably damaging HepG2 Missense Mutation ENOX1 chr13 43788178 43788178 G A g.43788178G>A ENST00000261488.6 c.1880C>T p.Thr627Met missense_variant probably damaging HepG2 Missense Mutation FAM124A chr13 51826254 51826254 C T g.51826254C>T ENST00000280057.6 c.859C>T p.Pro287Ser missense_variant probably damaging HepG2 Missense Mutation KLHL1 chr13 70681732 70681732 C G g.70681732C>G ENST00000377844.4 c.100G>C p.Gly34Arg missense_variant possibly damaging HepG2 Missense Mutation SAMD4A chr14 55241810 55241810 G A g.55241810G>A ENST00000392067.3 c.1874G>A p.Arg625His missense_variant probably damaging HepG2 Missense Mutation KIAA0586 chr14 58955385 58955385 C T g.58955385C>T ENST00000261244.5 c.3346C>T p.Pro1177Ser missense_variant benign HepG2 Missense Mutation SYNE2 chr14 64469829 64469829 G A g.64469829G>A ENST00000344113.4 c.4178G>A p.Arg1393Gln missense_variant benign HepG2 Missense Mutation JMJD7-PLA2G4B chr15 42140053 42140053 C A g.42140053C>A ENST00000382448.4 c.3034C>A p.His1012Asn missense_variant benign HepG2 Missense Mutation VPS39 chr15 42453958 42453958 C T g.42453958C>T ENST00000318006.5 c.2474G>A p.Arg825Gln missense_variant benign HepG2 Missense Mutation STARD9 chr15 42977088 42977088 T G g.42977088T>G ENST00000290607.7 c.3312T>G p.Asp1104Glu missense_variant benign HepG2 Missense Mutation ALDH1A2 chr15 58284989 58284989 T C g.58284989T>C ENST00000249750.4 c.712A>G p.Ile238Val missense_variant benign HepG2 Missense Mutation NARG2 chr15 60741229 60741229 C G g.60741229C>G ENST00000261520.4 c.1937G>C p.Gly646Ala missense_variant probably damaging HepG2 Missense Mutation HERC1 chr15 63915059 63915059 A G g.63915059A>G ENST00000443617.2 c.13643T>C p.Ile4548Thr missense_variant possibly damaging HepG2 Missense Mutation ZNF609 chr15 64791857 64791857 G C g.64791857G>C ENST00000326648.3 c.239G>C p.Gly80Ala missense_variant benign HepG2 Missense Mutation ADAMTSL3 chr15 84651946 84651946 C T g.84651946C>T ENST00000286744.5 c.3566C>T p.Ser1189Leu missense_variant possibly damaging HepG2 Missense Mutation ZNF592 chr15 85327606 85327606 T G g.85327606T>G ENST00000299927.3 c.1700T>G p.Leu567Arg missense_variant probably damaging HepG2 Missense Mutation FURIN chr15 91424752 91424752 C T g.91424752C>T ENST00000268171.3 c.2029C>T p.Arg677Trp missense_variant possibly damaging HepG2 Missense Mutation LRRC28 chr15 99901629 99901629 G A g.99901629G>A ENST00000301981.3 c.784G>A p.Ala262Thr missense_variant benign HepG2 Missense Mutation E4F1 chr16 2285135 2285135 C G g.2285135C>G ENST00000564139.1 c.1937C>G p.Pro646Arg missense_variant NA HepG2 Missense Mutation SULT1A1 chr16 28618389 28618389 C T g.28618389C>T ENST00000314752.7 c.382G>A p.Val128Ile missense_variant benign HepG2 Missense Mutation CD19 chr16 28943806 28943806 G T g.28943806G>T ENST00000324662.3 c.228G>T p.Arg76Ser missense_variant benign HepG2 Missense Mutation NME4 chr16 450239 450239 A G g.450239A>G ENST00000219479.2 c.461A>G p.Asp154Gly missense_variant benign HepG2 Missense Mutation TERF2 chr16 69391461 69391461 G A g.69391461G>A ENST00000603068.1 c.1304C>T p.Ala477Val missense_variant benign HepG2 Missense Mutation PDPR chr16 70166087 70166087 G A g.70166087G>A ENST00000288050.4 c.881G>A p.Arg294Gln missense_variant probably damaging HepG2 Missense Mutation CCDC78 chr16 776009 776009 T A g.776009T>A ENST00000293889.6 c.137A>T p.Glu46Val missense_variant probably damaging HepG2 Missense Mutation PIEZO1 chr16 88788362 88788362 G A g.88788362G>A ENST00000301015.9 c.5068C>T p.Leu1690Phe missense_variant probably damaging HepG2 Missense Mutation WDR81 chr17 1630978 1630978 C G g.1630978C>G ENST00000409644.1 c.2725C>G p.Leu909Val missense_variant benign HepG2 Missense Mutation MYO15A chr17 18023157 18023157 C T g.18023157C>T ENST00000205890.5 c.1043C>T p.Pro348Leu missense_variant benign HepG2 Missense Mutation MYO15A chr17 18052590 18052590 G C g.18052590G>C ENST00000205890.5 c.7017G>C p.Glu2339Asp missense_variant benign HepG2 Missense Mutation SMCR8 chr17 18220716 18220716 C T g.18220716C>T ENST00000406438.3 c.1613C>T p.Pro538Leu missense_variant probably damaging HepG2 Missense Mutation CLUH chr17 2604528 2604528 C A g.2604528C>A ENST00000435359.1 c.817G>T p.Ala273Ser missense_variant benign HepG2 Missense Mutation NEK8 chr17 27061820 27061820 G A g.27061820G>A ENST00000268766.6 c.284G>A p.Arg95His missense_variant probably damaging HepG2 Missense Mutation CPD chr17 28712099 28712099 G A g.28712099G>A ENST00000225719.4 c.839G>A p.Ser280Asn missense_variant probably damaging HepG2 Missense Mutation CPD chr17 28712100 28712100 C G g.28712100C>G ENST00000225719.4 c.840C>G p.Ser280Arg missense_variant probably damaging HepG2 Missense Mutation TBC1D29 chr17 28889890 28889890 T G g.28889890T>G ENST00000579181.1 c.182T>G p.Leu61Arg missense_variant benign HepG2 Missense Mutation AATF chr17 35310459 35310459 C T g.35310459C>T ENST00000225402.5 c.557C>T p.Ala186Val missense_variant benign HepG2 Missense Mutation GPATCH8 chr17 42483335 42483335 G C g.42483335G>C ENST00000591680.1 c.577C>G p.Leu193Val missense_variant probably damaging HepG2 Missense Mutation ITGB3 chr17 45364472 45364472 C A g.45364472C>A ENST00000559488.1 c.814C>A p.Leu272Met missense_variant probably damaging HepG2 Missense Mutation ABCA8 chr17 66918391 66918391 G C g.66918391G>C ENST00000269080.2 c.1493C>G p.Ala498Gly missense_variant probably damaging HepG2 Missense Mutation FAM104A chr17 71223379 71223379 T G g.71223379T>G ENST00000403627.3 c.246A>C p.Glu82Asp missense_variant benign HepG2 Missense Mutation MFSD11 chr17 74740454 74740454 G A g.74740454G>A ENST00000336509.4 c.547G>A p.Gly183Arg missense_variant probably damaging HepG2 Missense Mutation USP43 chr17 9631288 9631288 C T g.9631288C>T ENST00000285199.7 c.2353C>T p.Arg785Cys missense_variant possibly damaging HepG2 Missense Mutation CDH2 chr18 25563015 25563015 G C g.25563015G>C ENST00000269141.3 c.2242C>G p.Arg748Gly missense_variant probably damaging HepG2 Missense Mutation MAPK4 chr18 48248409 48248409 A C g.48248409A>C ENST00000400384.2 c.793A>C p.Ser265Arg missense_variant benign HepG2 Missense Mutation S1PR5 chr19 10624619 10624619 C G g.10624619C>G ENST00000333430.4 c.1069G>C p.Asp357His missense_variant possibly damaging HepG2 Missense Mutation RASAL3 chr19 15568258 15568258 C T g.15568258C>T ENST00000343625.7 c.1276G>A p.Val426Met missense_variant probably damaging HepG2 Missense Mutation MED26 chr19 16688252 16688252 C T g.16688252C>T ENST00000263390.3 c.389G>A p.Arg130His missense_variant probably damaging HepG2 Missense Mutation MAP1S chr19 17837403 17837403 G A g.17837403G>A ENST00000324096.4 c.1210G>A p.Gly404Ser missense_variant benign HepG2 Missense Mutation SLC5A5 chr19 18004634 18004634 C A g.18004634C>A ENST00000222248.3 c.1880C>A p.Thr627Asn missense_variant benign HepG2 Missense Mutation ZNF714 chr19 21281705 21281705 A T g.21281705A>T ENST00000291770.7 c.131A>T p.D44V missense_variant possibly damaging HepG2 Missense Mutation SIPA1L3 chr19 38692517 38692517 C T g.38692517C>T ENST00000222345.6 c.5000C>T p.Ser1667Leu missense_variant possibly damaging HepG2 Missense Mutation CBLC chr19 45281265 45281265 A G g.45281265A>G ENST00000270279.3 c.77A>G p.Gln26Arg missense_variant possibly damaging HepG2 Missense Mutation PVRL2 chr19 45375238 45375238 G A g.45375238G>A ENST00000252483.5 c.607G>A p.Glu203Lys missense_variant benign HepG2 Missense Mutation CKM chr19 45810791 45810791 G C g.45810791G>C ENST00000221476.3 c.895C>G p.Leu299Val missense_variant benign HepG2 Missense Mutation DPP9 chr19 4695534 4695534 C A g.4695534C>A ENST00000262960.9 c.1209G>T p.Gln403His missense_variant probably damaging HepG2 Missense Mutation TMEM160 chr19 47549375 47549375 C T g.47549375C>T ENST00000253047.6 c.437G>A p.Ser146Asn missense_variant benign HepG2 Missense Mutation ETFB chr19 51848611 51848611 C T g.51848611C>T ENST00000309244.4 c.622G>A p.Val208Met missense_variant benign HepG2 Missense Mutation DPRX chr19 54139871 54139871 G A g.54139871G>A ENST00000376650.1 c.205G>A p.Ala69Thr missense_variant probably damaging HepG2 Missense Mutation DPRX chr19 54139872 54139872 C G g.54139872C>G ENST00000376650.1 c.206C>G p.Ala69Gly missense_variant probably damaging HepG2 Missense Mutation PTPRH chr19 55708508 55708508 G T g.55708508G>T ENST00000376350.3 c.1967C>A p.Thr656Lys missense_variant benign HepG2 Missense Mutation LONP1 chr19 5692068 5692068 G A g.5692068G>A ENST00000360614.3 c.2855C>T p.Ala952Val missense_variant benign HepG2 Missense Mutation C3 chr19 6707846 6707846 G C g.6707846G>C ENST00000245907.6 c.1940C>G p.Thr647Arg missense_variant benign HepG2 Missense Mutation ZNF846 chr19 9868194 9868194 G A g.9868194G>A ENST00000397902.2 c.1559C>T p.Ala520Val missense_variant possibly damaging HepG2 Missense Mutation CLASP1 chr2 122139875 122139875 C T g.122139875C>T ENST00000263710.4 c.3400G>A p.Gly1134Arg missense_variant probably damaging HepG2 Missense Mutation SAP130 chr2 128707791 128707791 C A g.128707791C>A ENST00000259235.3 c.2587G>T p.Ala863Ser missense_variant benign HepG2 Missense Mutation VWC2L chr2 215278979 215278979 C G g.215278979C>G ENST00000312504.5 c.62C>G p.Ser21Cys missense_variant probably damaging HepG2 Missense Mutation ACSL3 chr2 223795450 223795450 T C g.223795450T>C ENST00000357430.3 c.1652T>C p.Phe551Ser missense_variant benign HepG2 Missense Mutation OTOF chr2 26697488 26697488 C T g.26697488C>T ENST00000272371.2 c.3181G>A p.Asp1061Asn missense_variant probably damaging HepG2 Missense Mutation CLIP4 chr2 29386756 29386756 G C g.29386756G>C ENST00000320081.5 c.1594G>C p.Gly532Arg missense_variant probably damaging HepG2 Missense Mutation DHX57 chr2 39050359 39050359 G A g.39050359G>A ENST00000295373.6 c.3067C>T p.Arg1023Trp missense_variant probably damaging HepG2 Missense Mutation MAP4K3 chr2 39485723 39485723 G A g.39485723G>A ENST00000263881.3 c.2314C>T p.Pro772Ser missense_variant benign HepG2 Missense Mutation SRBD1 chr2 45780769 45780769 C G g.45780769C>G ENST00000263736.4 c.1510G>C p.Glu504Gln missense_variant possibly damaging HepG2 Missense Mutation PUS10 chr2 61192213 61192213 T G g.61192213T>G ENST00000316752.6 c.703A>C p.Lys235Gln missense_variant possibly damaging HepG2 Missense Mutation CNNM3 chr2 97494420 97494420 G A g.97494420G>A ENST00000305510.3 c.1903G>A p.Asp635Asn missense_variant possibly damaging HepG2 Missense Mutation SIRPG chr20 1615981 1615981 G A g.1615981G>A ENST00000303415.3 c.1013C>T p.Ala338Val missense_variant possibly damaging HepG2 Missense Mutation MYLK2 chr20 30408339 30408339 A T g.30408339A>T ENST00000375985.4 c.463A>T p.Ile155Phe missense_variant possibly damaging HepG2 Missense Mutation ARHGAP40 chr20 37278437 37278437 T G g.37278437T>G NM_001164431.1 c.1971T>G p.Asp657Glu missense_variant damaging HepG2 Missense Mutation HNF4A chr20 43034815 43034815 A C g.43034815A>C ENST00000316099.4 c.233A>C p.Asp78Ala missense_variant possibly damaging HepG2 Missense Mutation SEMG2 chr20 43851139 43851139 C T g.43851139C>T ENST00000372769.3 c.866C>T p.Pro289Leu missense_variant possibly damaging HepG2 Missense Mutation CDH22 chr20 44803480 44803480 C G g.44803480C>G ENST00000372262.3 c.2152G>C p.Ala718Pro missense_variant benign HepG2 Missense Mutation TUBB1 chr20 57598870 57598870 C G g.57598870C>G ENST00000217133.1 c.388C>G p.Leu130Val missense_variant possibly damaging HepG2 Missense Mutation KRTAP13-3 chr21 31798118 31798118 G C g.31798118G>C ENST00000390690.2 c.113C>G p.Thr38Ser missense_variant benign HepG2 Missense Mutation RIPK4 chr21 43162128 43162128 T G g.43162128T>G ENST00000332512.3 c.1225A>C p.Lys409Gln missense_variant probably damaging HepG2 Missense Mutation PRDM15 chr21 43231168 43231168 A G g.43231168A>G ENST00000269844.3 c.3515T>C p.Leu1172Ser missense_variant probably damaging HepG2 Missense Mutation TMPRSS3 chr21 43802258 43802258 T A g.43802258T>A ENST00000291532.3 c.868A>T p.Ile290Phe missense_variant probably damaging HepG2 Missense Mutation KRTAP10-2 chr21 45970881 45970881 G T g.45970881G>T ENST00000391621.1 c.461C>A p.Thr154Asn missense_variant benign HepG2 Missense Mutation DGCR8 chr22 20074785 20074785 C T g.20074785C>T ENST00000351989.3 c.821C>T p.Pro274Leu missense_variant benign HepG2 Missense Mutation SUSD2 chr22 24581145 24581145 C T g.24581145C>T ENST00000358321.3 c.866C>T p.Ala289Val missense_variant probably damaging HepG2 Missense Mutation MYH9 chr22 36702015 36702015 C T g.36702015C>T ENST00000216181.5 c.2120G>A p.Gly707Asp missense_variant probably damaging HepG2 Missense Mutation KCTD17 chr22 37456917 37456917 G A g.37456917G>A ENST00000402077.3 c.688G>A p.Val230Met missense_variant possibly damaging HepG2 Missense Mutation ADSL chr22 40746029 40746029 G C g.40746029G>C ENST00000216194.7 c.347G>C p.Gly116Ala missense_variant probably damaging HepG2 Missense Mutation SCUBE1 chr22 43623455 43623455 C T g.43623455C>T ENST00000360835.4 c.1132G>A p.Val378Ile missense_variant benign HepG2 Missense Mutation ZBED4 chr22 50279574 50279574 C T g.50279574C>T ENST00000216268.5 c.2264C>T p.Ser755Leu missense_variant possibly damaging HepG2 Missense Mutation GPR128 chr3 100364791 100364791 T A g.100364791T>A ENST00000273352.3 c.949T>A p.Tyr317Asn (Splice) missense_variant,splice_region_variant benign HepG2 Missense Mutation GPR128 chr3 100364795 100364795 C A g.100364795C>A ENST00000273352.3 c.953C>A p.Thr318Asn missense_variant benign HepG2 Missense Mutation DZIP3 chr3 108405304 108405304 G C g.108405304G>C ENST00000361582.3 c.3022G>C p.Ala1008Pro missense_variant benign HepG2 Missense Mutation CCDC37 chr3 126155192 126155192 C T g.126155192C>T ENST00000352312.1 c.1781C>T p.Ser594Phe missense_variant possibly damaging HepG2 Missense Mutation CNTN6 chr3 1363443 1363443 G T g.1363443G>T ENST00000350110.2 c.871G>T p.Asp291Tyr missense_variant probably damaging HepG2 Missense Mutation XRN1 chr3 142144344 142144344 T G g.142144344T>G ENST00000264951.4 c.443A>C p.Lys148Thr missense_variant possibly damaging HepG2 Missense Mutation CPA3 chr3 148597629 148597629 G A g.148597629G>A ENST00000296046.3 c.529G>A p.Ala177Thr missense_variant probably damaging HepG2 Missense Mutation HPS3 chr3 148876582 148876582 C G g.148876582C>G ENST00000296051.2 c.1821C>G p.Ile607Met missense_variant possibly damaging HepG2 Missense Mutation MAP3K13 chr3 185191196 185191196 G A g.185191196G>A ENST00000265026.3 c.2077G>A p.Gly693Ser missense_variant possibly damaging HepG2 Missense Mutation BCL6 chr3 187447002 187447002 C G g.187447002C>G ENST00000232014.4 c.1191G>C p.Gln397His missense_variant possibly damaging HepG2 Missense Mutation MUC4 chr3 195517013 195517013 A C g.195517013A>C ENST00000462323.1 c.1438T>G p.Phe480Val missense_variant,NMD_transcript_variant benign HepG2 Missense Mutation TRANK1 chr3 36875291 36875291 A G g.36875291A>G ENST00000429976.2 c.5651T>C p.Met1884Thr missense_variant possibly damaging HepG2 Missense Mutation TRAK1 chr3 42244083 42244083 C T g.42244083C>T ENST00000327628.5 c.1583C>T p.Ala528Val missense_variant probably damaging HepG2 Missense Mutation LIMD1 chr3 45637239 45637239 G T g.45637239G>T ENST00000273317.4 c.868G>T p.Val290Phe missense_variant benign HepG2 Missense Mutation NBEAL2 chr3 47049345 47049345 A G g.47049345A>G ENST00000450053.3 c.7547A>G p.Tyr2516Cys missense_variant possibly damaging HepG2 Missense Mutation PTPN23 chr3 47453417 47453417 C T g.47453417C>T ENST00000265562.4 c.4033C>T p.Arg1345Cys missense_variant probably damaging HepG2 Missense Mutation ZNF589 chr3 48309812 48309812 G A g.48309812G>A ENST00000354698.3 c.631G>A p.Gly211Arg missense_variant benign HepG2 Missense Mutation PLXNB1 chr3 48456706 48456706 G A g.48456706G>A ENST00000296440.6 c.3845C>T p.Thr1282Met missense_variant benign HepG2 Missense Mutation WDR6 chr3 49050922 49050922 A G g.49050922A>G ENST00000395474.3 c.2045A>G p.Asn682Ser missense_variant benign HepG2 Missense Mutation AMT chr3 49459553 49459553 A G g.49459553A>G ENST00000273588.3 c.242T>C p.Val81Ala missense_variant probably damaging HepG2 Missense Mutation ABHD14B chr3 52005608 52005608 C T g.52005608C>T ENST00000315877.10 c.79G>A p.Gly27Ser missense_variant benign HepG2 Missense Mutation DNAH1 chr3 52383006 52383006 G A g.52383006G>A ENST00000420323.2 c.2209G>A p.Val737Met missense_variant benign HepG2 Missense Mutation CACNA1D chr3 53766877 53766877 C T g.53766877C>T ENST00000350061.5 c.2509C>T p.Pro837Ser missense_variant benign HepG2 Missense Mutation CADPS chr3 62739162 62739162 A G g.62739162A>G ENST00000283269.9 c.842T>C p.Leu281Pro missense_variant probably damaging HepG2 Missense Mutation MAGI1 chr3 65367656 65367656 G T g.65367656G>T ENST00000402939.2 c.2597C>A p.Thr866Lys missense_variant probably damaging HepG2 Missense Mutation CNTN3 chr3 74420539 74420539 C A g.74420539C>A ENST00000263665.6 c.466G>T p.Ala156Ser missense_variant benign HepG2 Missense Mutation ROBO2 chr3 77607239 77607239 C T g.77607239C>T ENST00000332191.8 c.1376C>T p.Pro459Leu missense_variant benign HepG2 Missense Mutation OR5H6 chr3 97983864 97983864 T A g.97983864T>A ENST00000383696.2 c.736T>A p.Ser246Thr missense_variant probably damaging HepG2 Missense Mutation C4orf21 chr4 113545005 113545005 A G g.113545005A>G ENST00000309071.5 c.130T>C p.Cys44Arg missense_variant benign HepG2 Missense Mutation FAT4 chr4 126412333 126412333 G A g.126412333G>A ENST00000394329.3 c.14356G>A p.Gly4786Arg missense_variant probably damaging HepG2 Missense Mutation HELT chr4 185941735 185941735 C T g.185941735C>T ENST00000338875.4 c.793C>T p.Pro265Ser missense_variant benign HepG2 Missense Mutation RBPJ chr4 26432576 26432576 G A g.26432576G>A ENST00000342295.1 c.1450G>A p.Ala484Thr missense_variant benign HepG2 Missense Mutation CCKAR chr4 26487431 26487431 A G g.26487431A>G ENST00000295589.3 c.454T>C p.Trp152Arg missense_variant probably damaging HepG2 Missense Mutation SOWAHB chr4 77818255 77818255 C T g.77818255C>T ENST00000334306.2 c.748G>A p.Ala250Thr missense_variant benign HepG2 Missense Mutation SEC31A chr4 83748733 83748733 G A g.83748733G>A ENST00000355196.2 c.3080C>T p.Pro1027Leu missense_variant probably damaging HepG2 Missense Mutation SRFBP1 chr5 121356047 121356047 A T g.121356047A>T ENST00000339397.4 c.617A>T p.Lys206Met missense_variant possibly damaging HepG2 Missense Mutation PCDHB15 chr5 140626435 140626435 G C g.140626435G>C ENST00000231173.3 c.1289G>C p.Arg430Thr missense_variant benign HepG2 Missense Mutation AGXT2 chr5 35010225 35010225 G C g.35010225G>C ENST00000231420.6 c.1218C>G p.Asn406Lys missense_variant probably damaging HepG2 Missense Mutation NIPBL chr5 37057297 37057297 G A g.37057297G>A ENST00000282516.8 c.7273G>A p.Val2425Met missense_variant probably damaging HepG2 Missense Mutation GCNT2 chr6 10530036 10530036 G A g.10530036G>A ENST00000379597.3 c.892G>A p.Glu298Lys missense_variant damaging HepG2 Missense Mutation PRDM1 chr6 106553314 106553314 G A g.106553314G>A ENST00000369096.4 c.1279G>A p.Ala427Thr missense_variant benign HepG2 Missense Mutation MOXD1 chr6 132693827 132693827 G A g.132693827G>A ENST00000367963.3 c.583C>T p.Pro195Ser missense_variant benign HepG2 Missense Mutation HEBP2 chr6 138734085 138734085 G A g.138734085G>A ENST00000607197.1 c.488G>A p.Arg163Lys missense_variant benign HepG2 Missense Mutation SASH1 chr6 148865715 148865715 C A g.148865715C>A ENST00000367467.3 c.3109C>A p.Pro1037Thr missense_variant benign HepG2 Missense Mutation IGF2R chr6 160465641 160465641 G A g.160465641G>A ENST00000356956.1 c.1717G>A p.Gly573Ser missense_variant possibly damaging HepG2 Missense Mutation FKBPL chr6 32097220 32097220 T C g.32097220T>C ENST00000375156.3 c.338A>G p.His113Arg missense_variant benign HepG2 Missense Mutation UHRF1BP1 chr6 34826301 34826301 C T g.34826301C>T ENST00000192788.5 c.2168C>T p.Pro723Leu missense_variant probably damaging HepG2 Missense Mutation DAAM2 chr6 39864605 39864605 C T g.39864605C>T ENST00000274867.4 c.2359C>T p.Arg787Trp missense_variant probably damaging HepG2 Missense Mutation PPP1R3G chr6 5086695 5086695 C T g.5086695C>T ENST00000405617.2 c.976C>T p.His326Tyr missense_variant probably damaging HepG2 Missense Mutation TTK chr6 80749554 80749554 G C g.80749554G>C ENST00000369798.2 c.2272G>C p.Asp758His missense_variant probably damaging HepG2 Missense Mutation FBXL13 chr7 102665521 102665521 C T g.102665521C>T ENST00000313221.4 c.484G>A p.Ala162Thr missense_variant possibly damaging HepG2 Missense Mutation TMEM168 chr7 112424593 112424593 A T g.112424593A>T ENST00000312814.6 c.288T>A p.Asn96Lys missense_variant possibly damaging HepG2 Missense Mutation PTPRZ1 chr7 121695020 121695020 C A g.121695020C>A ENST00000393386.2 c.6407C>A p.Pro2136Gln missense_variant probably damaging HepG2 Missense Mutation LEP chr7 127894479 127894479 A T g.127894479A>T ENST00000308868.4 c.167A>T p.Lys56Ile missense_variant benign HepG2 Missense Mutation TMUB1 chr7 150779325 150779325 A G g.150779325A>G ENST00000297533.4 c.326T>C p.Phe109Ser missense_variant probably damaging HepG2 Missense Mutation URGCP chr7 43917387 43917387 A G g.43917387A>G ENST00000453200.1 c.1675T>C p.Ser559Pro missense_variant probably damaging HepG2 Missense Mutation VSTM2A chr7 54612458 54612458 G A g.54612458G>A ENST00000302287.3 c.223G>A p.Gly75Arg missense_variant possibly damaging HepG2 Missense Mutation TRIM50 chr7 72727123 72727123 A T g.72727123A>T ENST00000333149.2 c.1258T>A p.Tyr420Asn missense_variant probably damaging HepG2 Missense Mutation LIMK1 chr7 73530159 73530159 G A g.73530159G>A ENST00000336180.2 c.1438G>A p.Gly480Arg missense_variant probably damaging HepG2 Missense Mutation HEPACAM2 chr7 92821632 92821632 T G g.92821632T>G ENST00000394468.2 c.1320A>C p.Gln440His missense_variant benign HepG2 Missense Mutation COL1A2 chr7 94049552 94049552 C A g.94049552C>A ENST00000297268.6 c.2087C>A p.Ala696Asp missense_variant benign HepG2 Missense Mutation ZKSCAN5 chr7 99123885 99123885 G A g.99123885G>A ENST00000326775.5 c.1222G>A p.Gly408Arg missense_variant probably damaging HepG2 Missense Mutation ANGPT1 chr8 108264099 108264099 C T g.108264099C>T ENST00000520734.1 c.881G>A p.Arg294Gln missense_variant probably damaging HepG2 Missense Mutation DENND3 chr8 142204295 142204295 G T g.142204295G>T ENST00000262585.2 c.3560G>T p.Arg1187Met missense_variant possibly damaging HepG2 Missense Mutation TONSL chr8 145661514 145661514 G A g.145661514G>A ENST00000409379.3 c.2302C>T p.Arg768Trp missense_variant probably damaging HepG2 Missense Mutation RECQL4 chr8 145741168 145741168 G C g.145741168G>C ENST00000428558.2 c.1238C>G p.A413G missense_variant possibly damaging HepG2 Missense Mutation RECQL4 chr8 145741169 145741169 C T g.145741169C>T ENST00000428558.2 c.1237G>A p.A413T missense_variant possibly damaging HepG2 Missense Mutation PDLIM2 chr8 22451379 22451379 C T g.22451379C>T ENST00000308354.7 c.1765C>T p.Arg589Cys missense_variant damaging HepG2 Missense Mutation ENTPD4 chr8 23299176 23299176 C T g.23299176C>T ENST00000356206.6 c.788G>A p.Arg263His missense_variant probably damaging HepG2 Missense Mutation FZD3 chr8 28413406 28413406 G C g.28413406G>C ENST00000240093.3 c.1705G>C p.Asp569His missense_variant benign HepG2 Missense Mutation GOT1L1 chr8 37795186 37795186 G A g.37795186G>A ENST00000307599.4 c.379C>T p.Arg127Cys missense_variant probably damaging HepG2 Missense Mutation TACC1 chr8 38677553 38677553 A G g.38677553A>G ENST00000317827.4 c.791A>G p.Tyr264Cys missense_variant benign HepG2 Missense Mutation HGSNAT chr8 43025804 43025804 C A g.43025804C>A ENST00000379644.4 c.710C>A p.Pro237Gln missense_variant benign HepG2 Missense Mutation ST18 chr8 53025793 53025793 T G g.53025793T>G ENST00000276480.7 c.3109A>C p.Ser1037Arg missense_variant probably damaging HepG2 Missense Mutation CSPP1 chr8 68018151 68018151 A G g.68018151A>G ENST00000262210.5 c.1061A>G p.Asn354Ser missense_variant possibly damaging HepG2 Missense Mutation PREX2 chr8 68930087 68930087 T G g.68930087T>G ENST00000288368.4 c.148T>G p.Leu50Val missense_variant possibly damaging HepG2 Missense Mutation UBE2W chr8 74722831 74722831 G C g.74722831G>C ENST00000602593.1 c.244C>G p.Pro82Ala missense_variant,NMD_transcript_variant probably damaging HepG2 Missense Mutation OR1N1 chr9 125289272 125289272 A C g.125289272A>C ENST00000304880.2 c.301T>G p.Phe101Val missense_variant probably damaging HepG2 Missense Mutation DNM1 chr9 130965793 130965793 G A g.130965793G>A ENST00000341179.7 c.44G>A p.Arg15Gln missense_variant possibly damaging HepG2 Missense Mutation GPSM1 chr9 139244159 139244159 G A g.139244159G>A ENST00000440944.1 c.1399G>A p.Glu467Lys missense_variant benign HepG2 Missense Mutation NOTCH1 chr9 139391816 139391816 G C g.139391816G>C ENST00000277541.6 c.6375C>G p.His2125Gln missense_variant probably damaging HepG2 Missense Mutation MAMDC4 chr9 139755030 139755030 C T g.139755030C>T ENST00000317446.2 c.3389C>T p.Pro1130Leu missense_variant probably damaging HepG2 Missense Mutation EQTN chr9 27294395 27294395 A T g.27294395A>T ENST00000380031.1 c.208T>A p.Phe70Ile missense_variant possibly damaging HepG2 Missense Mutation INSL4 chr9 5233769 5233769 G T g.5233769G>T ENST00000239316.4 c.312G>T p.Leu104Phe missense_variant benign HepG2 Missense Mutation KANK1 chr9 712843 712843 G A g.712843G>A ENST00000382297.2 c.2077G>A p.Glu693Lys missense_variant possibly damaging HepG2 Missense Mutation PTAR1 chr9 72338324 72338324 G C g.72338324G>C ENST00000340434.4 c.865C>G p.Pro289Ala missense_variant benign HepG2 Missense Mutation SMC5 chr9 72939051 72939051 C T g.72939051C>T ENST00000361138.5 c.2389C>T p.Leu797Phe missense_variant benign HepG2 Missense Mutation PCSK5 chr9 78969069 78969069 C G g.78969069C>G ENST00000545128.1 c.5107C>G p.Leu1703Val missense_variant damaging HepG2 Missense Mutation BCOR chrX 39921444 39921444 T C g.39921444T>C ENST00000378444.4 c.4376A>G p.Asn1459Ser missense_variant possibly damaging Hep3B Missense Mutation TAS1R3 chr1 1267608 1267608 C T g.1267608C>T ENST00000339381.5 c.697C>T p.Arg233Cys missense_variant probably damaging Hep3B Missense Mutation TAS1R3 chr1 1268747 1268747 C T g.1268747C>T ENST00000339381.5 c.1588C>T p.Arg530Trp missense_variant benign Hep3B Missense Mutation MXRA8 chr1 1290506 1290506 C A g.1290506C>A ENST00000309212.6 c.505G>T p.Gly169Cys missense_variant probably damaging Hep3B Missense Mutation BOLA1 chr1 149871738 149871738 G C g.149871738G>C ENST00000369150.1 c.126G>C p.Glu42Asp missense_variant benign Hep3B Missense Mutation FLG chr1 152282882 152282882 C A g.152282882C>A ENST00000368799.1 c.4480G>T p.Gly1494Trp missense_variant probably damaging Hep3B Missense Mutation SLC50A1 chr1 155108066 155108066 A G g.155108066A>G NM_001287592.1 c.4A>G p.Ile2Val missense_variant NA Hep3B Missense Mutation OR10K2 chr1 158389960 158389960 C G g.158389960C>G ENST00000314902.2 c.697G>C p.Gly233Arg missense_variant probably damaging Hep3B Missense Mutation SLAMF9 chr1 159921481 159921481 C A g.159921481C>A ENST00000368093.3 c.840G>T p.Lys280Asn missense_variant possibly damaging Hep3B Missense Mutation FCRLB chr1 161693280 161693280 C T g.161693280C>T ENST00000336830.5 c.176C>T p.Thr59Ile missense_variant possibly damaging Hep3B Missense Mutation CDK11A chr1 1650844 1650844 C T g.1650844C>T ENST00000357760.2 c.278G>A p.Arg93Gln missense_variant probably damaging Hep3B Missense Mutation IGFN1 chr1 201163380 201163380 G A g.201163380G>A ENST00000335211.4 c.106G>A p.Val36Ile missense_variant benign Hep3B Missense Mutation OPTC chr1 203465241 203465241 G C g.203465241G>C ENST00000367222.2 c.108G>C p.Arg36Ser missense_variant benign Hep3B Missense Mutation CDC42BPA chr1 227257549 227257549 C G g.227257549C>G ENST00000334218.5 c.2833G>C p.Glu945Gln missense_variant benign Hep3B Missense Mutation OBSCN chr1 228548329 228548329 C T g.228548329C>T ENST00000284548.11 c.19736C>T p.Ala6579Val missense_variant benign Hep3B Missense Mutation URB2 chr1 229770779 229770779 C T g.229770779C>T ENST00000258243.2 c.419C>T p.Thr140Met missense_variant probably damaging Hep3B Missense Mutation RYR2 chr1 237949311 237949311 A G g.237949311A>G ENST00000366574.2 c.13303A>G p.Thr4435Ala missense_variant benign Hep3B Missense Mutation CHML chr1 241798739 241798739 C G g.241798739C>G ENST00000366553.1 c.330G>C p.Glu110Asp missense_variant benign Hep3B Missense Mutation SH3D21 chr1 36773415 36773415 C T g.36773415C>T ENST00000426732.2 c.133C>T p.Arg45Trp missense_variant probably damaging Hep3B Missense Mutation GLIS1 chr1 53980338 53980338 G T g.53980338G>T ENST00000312233.2 c.1318C>A p.His440Asn missense_variant probably damaging Hep3B Missense Mutation C1orf177 chr1 55272734 55272734 C G g.55272734C>G ENST00000358193.3 c.170C>G p.Ser57Cys missense_variant probably damaging Hep3B Missense Mutation AK4 chr1 65656459 65656459 G A g.65656459G>A ENST00000327299.7 c.212G>A p.Arg71His missense_variant probably damaging Hep3B Missense Mutation PAX2 chr10 102587388 102587388 A T g.102587388A>T NM_003989.3 c.1178A>T p.Asp393Val missense_variant benign Hep3B Missense Mutation ADAM12 chr10 127789697 127789697 G T g.127789697G>T ENST00000368676.4 c.864C>A p.Asp288Glu missense_variant probably damaging Hep3B Missense Mutation ARHGAP21 chr10 24908614 24908614 A C g.24908614A>C ENST00000396432.2 c.2210T>G p.Leu737Arg missense_variant probably damaging Hep3B Missense Mutation BMS1 chr10 43287186 43287186 C G g.43287186C>G ENST00000374518.5 c.748C>G p.Gln250Glu missense_variant probably damaging Hep3B Missense Mutation FDXACB1 chr11 111747245 111747245 A G g.111747245A>G ENST00000260257.4 c.652T>C p.Ser218Pro missense_variant possibly damaging Hep3B Missense Mutation ROBO3 chr11 124748205 124748205 G A g.124748205G>A ENST00000397801.1 c.3193G>A p.Gly1065Ser missense_variant probably damaging Hep3B Missense Mutation ROBO4 chr11 124756981 124756981 C T g.124756981C>T ENST00000306534.3 c.2327G>A p.Arg776His missense_variant benign Hep3B Missense Mutation ROBO4 chr11 124757328 124757328 C A g.124757328C>A ENST00000306534.3 c.2124G>T p.Glu708Asp missense_variant possibly damaging Hep3B Missense Mutation TIRAP chr11 126162704 126162704 T C g.126162704T>C ENST00000392678.3 c.400T>C p.Cys134Arg missense_variant probably damaging Hep3B Missense Mutation MUC5B chr11 1263818 1263818 C T g.1263818C>T ENST00000529681.1 c.5708C>T p.Thr1903Met missense_variant probably damaging Hep3B Missense Mutation PRMT3 chr11 20409666 20409666 G A g.20409666G>A ENST00000331079.6 c.130G>A p.Gly44Ser missense_variant benign Hep3B Missense Mutation HIPK3 chr11 33308402 33308402 T C g.33308402T>C ENST00000303296.4 c.442T>C p.Ser148Pro missense_variant benign Hep3B Missense Mutation KIAA1549L chr11 33566681 33566681 A G g.33566681A>G ENST00000321505.4 c.2251A>G p.Met751Val missense_variant possibly damaging Hep3B Missense Mutation OR52I2 chr11 4608245 4608245 C T g.4608245C>T ENST00000312614.4 c.203C>T p.Ala68Val missense_variant benign Hep3B Missense Mutation OR8I2 chr11 55861030 55861030 G T g.55861030G>T ENST00000302124.2 c.247G>T p.Val83Leu missense_variant benign Hep3B Missense Mutation OR5B21 chr11 58275572 58275572 T C g.58275572T>C ENST00000360374.2 c.7A>G p.Asn3Asp missense_variant probably damaging Hep3B Missense Mutation PHRF1 chr11 607935 607935 A G g.607935A>G ENST00000416188.2 c.2476A>G p.Ser826Gly missense_variant possibly damaging Hep3B Missense Mutation DAGLA chr11 61502410 61502410 G A g.61502410G>A ENST00000257215.5 c.1064G>A p.Arg355Gln missense_variant possibly damaging Hep3B Missense Mutation DNHD1 chr11 6519491 6519491 T A g.6519491T>A ENST00000254579.6 c.46T>A p.Ser16Thr missense_variant benign Hep3B Missense Mutation DPP3 chr11 66276709 66276709 C G g.66276709C>G ENST00000360510.2 c.2201C>G p.Ser734Cys missense_variant benign Hep3B Missense Mutation DCHS1 chr11 6651422 6651422 A C g.6651422A>C ENST00000299441.3 c.4603T>G p.Phe1535Val missense_variant probably damaging Hep3B Missense Mutation RBMXL2 chr11 7111475 7111475 G T g.7111475G>T ENST00000306904.5 c.1124G>T p.Gly375Val missense_variant benign Hep3B Missense Mutation EIF3F chr11 8008910 8008910 C G g.8008910C>G ENST00000309828.4 c.11C>G p.Pro4Arg missense_variant probably damaging Hep3B Missense Mutation PIDD chr11 802350 802350 C T g.802350C>T ENST00000347755.5 c.1021G>A p.Val341Ile missense_variant benign Hep3B Missense Mutation RPLP2 chr11 810347 810347 G A g.810347G>A ENST00000321153.4 c.113G>A p.Arg38Gln missense_variant possibly damaging Hep3B Missense Mutation PCF11 chr11 82877749 82877749 A T g.82877749A>T ENST00000298281.4 c.1810A>T p.Asn604Tyr missense_variant probably damaging Hep3B Missense Mutation UHRF1BP1L chr12 100482782 100482782 T C g.100482782T>C ENST00000279907.7 c.932A>G p.Asn311Ser missense_variant benign Hep3B Missense Mutation STAB2 chr12 104069765 104069765 G A g.104069765G>A ENST00000388887.2 c.2612G>A p.Cys871Tyr missense_variant probably damaging Hep3B Missense Mutation ACAD10 chr12 112183990 112183990 T G g.112183990T>G ENST00000313698.4 c.2158T>G p.Leu720Val missense_variant benign Hep3B Missense Mutation TMEM116 chr12 112429689 112429689 C T g.112429689C>T ENST00000355445.3 c.83G>A p.Arg28Lys missense_variant benign Hep3B Missense Mutation IQCD chr12 113633532 113633532 T C g.113633532T>C ENST00000299732.2 c.892A>G p.Met298Val missense_variant possibly damaging Hep3B Missense Mutation ARL6IP4 chr12 123464956 123464956 G A g.123464956G>A ENST00000315580.5 c.22G>A p.Gly8Arg missense_variant benign Hep3B Missense Mutation GSG1 chr12 13237990 13237990 A T g.13237990A>T ENST00000432710.2 c.865T>A p.Leu289Met missense_variant benign Hep3B Missense Mutation SLCO1B3 chr12 21032562 21032562 A G g.21032562A>G ENST00000261196.2 c.1328A>G p.Asp443Gly missense_variant benign Hep3B Missense Mutation ITPR2 chr12 26731754 26731754 C T g.26731754C>T ENST00000381340.3 c.4522G>A p.Val1508Ile missense_variant benign Hep3B Missense Mutation OVCH1 chr12 29608291 29608291 A C g.29608291A>C ENST00000318184.5 c.2328T>G p.F776L missense_variant probably damaging Hep3B Missense Mutation SLC6A12 chr12 308072 308072 G A g.308072G>A ENST00000359674.4 c.737C>T p.Pro246Leu missense_variant probably damaging Hep3B Missense Mutation ITGA7 chr12 56091486 56091486 G C g.56091486G>C ENST00000257880.7 c.1534C>G p.Leu512Val missense_variant benign Hep3B Missense Mutation SMARCC2 chr12 56558173 56558173 G A g.56558173G>A ENST00000267064.4 c.3482C>T p.Pro1161Leu missense_variant possibly damaging Hep3B Missense Mutation PIP4K2C chr12 57994837 57994837 G C g.57994837G>C ENST00000354947.5 c.1057G>C p.Val353Leu missense_variant possibly damaging Hep3B Missense Mutation CCER1 chr12 91347726 91347726 G A g.91347726G>A ENST00000358859.2 c.794C>T p.Pro265Leu missense_variant benign Hep3B Missense Mutation KLRF1 chr12 9986018 9986018 C A g.9986018C>A ENST00000279544.3 c.304C>A p.L102I missense_variant benign Hep3B Missense Mutation SALL2 chr14 21993200 21993200 G C g.21993200G>C ENST00000327430.3 c.662C>G p.Ala221Gly missense_variant benign Hep3B Missense Mutation PRKD1 chr14 30396624 30396624 C A g.30396624C>A ENST00000331968.5 c.95G>T p.Gly32Val missense_variant benign Hep3B Missense Mutation MAP4K5 chr14 50914187 50914187 C G g.50914187C>G ENST00000013125.4 c.1087G>C p.Asp363His missense_variant benign Hep3B Missense Mutation DLGAP5 chr14 55615335 55615335 G A g.55615335G>A ENST00000395425.2 c.2486C>T p.Ala829Val missense_variant benign Hep3B Missense Mutation SYNJ2BP chr14 70883656 70883656 C T g.70883656C>T ENST00000256366.4 c.25G>A p.Val9Ile missense_variant benign Hep3B Missense Mutation NUMB chr14 73746054 73746054 C T g.73746054C>T ENST00000355058.3 c.1175G>A p.Arg392His missense_variant probably damaging Hep3B Missense Mutation MLH3 chr14 75514371 75514371 C T g.75514371C>T ENST00000238662.7 c.1988G>A p.Ser663Asn missense_variant benign Hep3B Missense Mutation DUOX1 chr15 45456084 45456084 T C g.45456084T>C ENST00000321429.4 c.4501T>C p.Phe1501Leu missense_variant possibly damaging Hep3B Missense Mutation MYO9A chr15 72252288 72252288 C T g.72252288C>T ENST00000356056.5 c.2136G>A p.Met712Ile missense_variant benign Hep3B Missense Mutation AKAP13 chr15 86122333 86122333 G C g.86122333G>C ENST00000361243.2 c.1034G>C p.Ser345Thr missense_variant benign Hep3B Missense Mutation WDR93 chr15 90278755 90278755 G A g.90278755G>A ENST00000268130.7 c.1579G>A p.Val527Met missense_variant probably damaging Hep3B Missense Mutation PTX4 chr16 1537557 1537557 C T g.1537557C>T ENST00000447419.2 c.556G>A p.G186R missense_variant benign Hep3B Missense Mutation PDILT chr16 20384188 20384188 C T g.20384188C>T ENST00000302451.4 c.854G>A p.Ser285Asn missense_variant benign Hep3B Missense Mutation NPW chr16 2070131 2070131 A G g.2070131A>G ENST00000566435.1 c.73A>G p.T25A missense_variant benign Hep3B Missense Mutation VWA3A chr16 22142928 22142928 C G g.22142928C>G ENST00000389398.5 c.1750C>G p.Arg584Gly missense_variant benign Hep3B Missense Mutation KDM8 chr16 27226321 27226321 G A g.27226321G>A ENST00000286096.4 c.790G>A p.Val264Met missense_variant possibly damaging Hep3B Missense Mutation SEPHS2 chr16 30456400 30456400 C T g.30456400C>T ENST00000478753.2 c.649G>A p.Val217Ile missense_variant benign Hep3B Missense Mutation ITGAM chr16 31282280 31282280 C A g.31282280C>A ENST00000287497.8 c.433C>A p.Pro145Thr missense_variant possibly damaging Hep3B Missense Mutation ITGAM chr16 31282281 31282281 C A g.31282281C>A ENST00000287497.8 c.434C>A p.Pro145His missense_variant probably damaging Hep3B Missense Mutation ZNF597 chr16 3487212 3487212 G C g.3487212G>C ENST00000301744.4 c.487C>G p.Gln163Glu missense_variant benign Hep3B Missense Mutation C16orf90 chr16 3544848 3544848 C T g.3544848C>T ENST00000437192.3 c.76G>A p.Gly26Ser missense_variant benign Hep3B Missense Mutation C16orf96 chr16 4625498 4625498 G T g.4625498G>T ENST00000444310.4 c.1017G>T p.Glu339Asp missense_variant benign Hep3B Missense Mutation ZNF500 chr16 4802793 4802793 G A g.4802793G>A ENST00000219478.6 c.1027C>T p.His343Tyr missense_variant probably damaging Hep3B Missense Mutation ZNF500 chr16 4815619 4815619 C A g.4815619C>A ENST00000219478.6 c.361G>T p.Ala121Ser missense_variant probably damaging Hep3B Missense Mutation NOD2 chr16 50757286 50757286 A G g.50757286A>G ENST00000300589.2 c.2873A>G p.Glu958Gly missense_variant probably damaging Hep3B Missense Mutation ZNF19 chr16 71509804 71509804 G A g.71509804G>A ENST00000288177.5 c.646C>T p.Pro216Ser missense_variant probably damaging Hep3B Missense Mutation MSLN chr16 816338 816338 T C g.816338T>C ENST00000382862.3 c.1078T>C p.Tyr360His missense_variant probably damaging Hep3B Missense Mutation CDH13 chr16 83817069 83817069 G C g.83817069G>C ENST00000566620.1 c.2126G>C p.Ser709Thr missense_variant benign Hep3B Missense Mutation CYBA chr16 88713546 88713546 G C g.88713546G>C ENST00000261623.3 c.166C>G p.Arg56Gly missense_variant probably damaging Hep3B Missense Mutation GALNS chr16 88884456 88884456 G A g.88884456G>A ENST00000268695.5 c.1441C>T p.Pro481Ser missense_variant probably damaging Hep3B Missense Mutation UNC45B chr17 33498440 33498440 G A g.33498440G>A ENST00000268876.5 c.1795G>A p.Ala599Thr missense_variant probably damaging Hep3B Missense Mutation SLFN14 chr17 33879983 33879983 G T g.33879983G>T ENST00000415846.3 c.1670C>A p.Ser557Tyr missense_variant probably damaging Hep3B Missense Mutation EFCAB13 chr17 45422446 45422446 C G g.45422446C>G ENST00000331493.2 c.499C>G p.His167Asp missense_variant benign Hep3B Missense Mutation SYNGR2 chr17 76167657 76167657 C T g.76167657C>T ENST00000225777.3 c.404C>T p.Pro135Leu missense_variant benign Hep3B Missense Mutation DNAH2 chr17 7721976 7721976 C A g.7721976C>A ENST00000389173.2 c.10552C>A p.Leu3518Met missense_variant probably damaging Hep3B Missense Mutation KCNAB3 chr17 7826803 7826803 G C g.7826803G>C ENST00000303790.2 c.1108C>G p.Gln370Glu missense_variant benign Hep3B Missense Mutation HGS chr17 79663649 79663649 G A g.79663649G>A ENST00000329138.4 c.1579G>A p.Val527Met missense_variant benign Hep3B Missense Mutation DSC1 chr18 28719800 28719800 C T g.28719800C>T ENST00000257197.3 c.1574G>A p.Gly525Asp missense_variant probably damaging Hep3B Missense Mutation MYOM1 chr18 3129442 3129442 A C g.3129442A>C ENST00000356443.4 c.2582T>G p.Val861Gly missense_variant benign Hep3B Missense Mutation EPG5 chr18 43535091 43535091 C G g.43535091C>G ENST00000282041.5 c.277G>C p.Glu93Gln missense_variant benign Hep3B Missense Mutation DCC chr18 50866253 50866253 C G g.50866253C>G ENST00000442544.2 c.2335C>G p.Arg779Gly missense_variant probably damaging Hep3B Missense Mutation ATP8B1 chr18 55359045 55359045 T A g.55359045T>A ENST00000283684.4 c.1214A>T p.Tyr405Phe missense_variant probably damaging Hep3B Missense Mutation LAMA1 chr18 7042243 7042243 G T g.7042243G>T ENST00000389658.3 c.1162C>A p.Pro388Thr missense_variant probably damaging Hep3B Missense Mutation ATG4D chr19 10655449 10655449 G T g.10655449G>T NM_001281504.1 c.37G>T p.Val13Phe missense_variant NA Hep3B Missense Mutation LPPR2 chr19 11468392 11468392 A T g.11468392A>T XM_005260017.1 c.43A>T p.Ile15Phe missense_variant benign Hep3B Missense Mutation MIDN chr19 1254320 1254320 G A g.1254320G>A ENST00000300952.2 c.539G>A p.Gly180Glu missense_variant possibly damaging Hep3B Missense Mutation GIPC1 chr19 14591129 14591129 G A g.14591129G>A ENST00000345425.2 c.643C>T p.Arg215Cys missense_variant probably damaging Hep3B Missense Mutation ILVBL chr19 15226719 15226719 A G g.15226719A>G ENST00000263383.3 c.1556T>C p.Phe519Ser missense_variant probably damaging Hep3B Missense Mutation ZNF681 chr19 23927117 23927117 T C g.23927117T>C ENST00000402377.3 c.1235A>G p.His412Arg missense_variant probably damaging Hep3B Missense Mutation MIER2 chr19 308618 308618 C T g.308618C>T ENST00000264819.4 c.1157G>A p.Arg386His missense_variant probably damaging Hep3B Missense Mutation ZNF599 chr19 35250487 35250487 G A g.35250487G>A ENST00000329285.8 c.1219C>T p.Arg407Cys missense_variant benign Hep3B Missense Mutation ZNF224 chr19 44610842 44610842 A G g.44610842A>G ENST00000336976.6 c.529A>G p.Thr177Ala missense_variant possibly damaging Hep3B Missense Mutation PRKD2 chr19 47177822 47177822 G C g.47177822G>C ENST00000291281.4 c.2595C>G p.Asp865Glu missense_variant benign Hep3B Missense Mutation C16orf82 chr16 27078327 27078327 C T g.27078327C>T NM_001145545.1 c.11C>T p.P4L missense_variant probably damaging Hep3B Missense Mutation DKKL1 chr19 49878248 49878248 A T g.49878248A>T ENST00000221498.2 c.692A>T p.His231Leu missense_variant probably damaging Hep3B Missense Mutation PRR12 chr19 50100365 50100365 C T g.50100365C>T ENST00000418929.2 c.2773C>T p.Arg925Cys missense_variant probably damaging Hep3B Missense Mutation SHANK1 chr19 51200865 51200865 C T g.51200865C>T ENST00000293441.1 c.1918G>A p.Asp640Asn missense_variant probably damaging Hep3B Missense Mutation ZNF841 chr19 52569537 52569537 C A g.52569537C>A ENST00000389534.4 c.1598G>T p.Arg533Ile missense_variant probably damaging Hep3B Missense Mutation ZNF880 chr19 52887485 52887485 G A g.52887485G>A ENST00000422689.2 c.652G>A p.Asp218Asn missense_variant benign Hep3B Missense Mutation ZNF28 chr19 53303924 53303924 A G g.53303924A>G ENST00000457749.2 c.1174T>C p.Phe392Leu missense_variant probably damaging Hep3B Missense Mutation ZNF581 chr19 56156086 56156086 C T g.56156086C>T ENST00000270451.5 c.149C>T p.Pro50Leu missense_variant benign Hep3B Missense Mutation NLRP9 chr19 56241353 56241353 T C g.56241353T>C ENST00000332836.2 c.1838A>G p.Asn613Ser missense_variant benign Hep3B Missense Mutation ZNF835 chr19 57176170 57176170 T G g.57176170T>G ENST00000537055.2 c.397A>C p.Thr133Pro missense_variant probably damaging Hep3B Missense Mutation ZNF543 chr19 57839124 57839124 G T g.57839124G>T ENST00000321545.4 c.294G>T p.Leu98Phe missense_variant possibly damaging Hep3B Missense Mutation ARL6IP6 chr2 153591548 153591548 C A g.153591548C>A ENST00000326446.5 c.495C>A p.Phe165Leu missense_variant benign Hep3B Missense Mutation CFLAR chr2 202025488 202025488 A T g.202025488A>T ENST00000309955.3 c.1127A>T p.Asp376Val missense_variant probably damaging Hep3B Missense Mutation BMPR2 chr2 203383666 203383666 G C g.203383666G>C ENST00000374574.2 c.743G>C p.Arg248Thr missense_variant benign Hep3B Missense Mutation UGT1A10 chr2 234545374 234545374 C T g.234545374C>T ENST00000344644.5 c.206C>T p.Ser69Leu missense_variant benign Hep3B Missense Mutation UGT1A1 chr2 234675755 234675755 A G g.234675755A>G ENST00000305208.5 c.940A>G p.Ile313Val missense_variant benign Hep3B Missense Mutation COLEC11 chr2 3691627 3691627 G C g.3691627G>C ENST00000349077.4 c.735G>C p.Met245Ile missense_variant benign Hep3B Missense Mutation SRBD1 chr2 45826698 45826698 C T g.45826698C>T ENST00000263736.4 c.538G>A p.Ala180Thr missense_variant benign Hep3B Missense Mutation CAPG chr2 85628656 85628656 T C g.85628656T>C ENST00000263867.4 c.347A>G p.Tyr116Cys missense_variant probably damaging Hep3B Missense Mutation RBBP9 chr20 18477780 18477780 G T g.18477780G>T ENST00000337227.4 c.32C>A p.Pro11His missense_variant probably damaging Hep3B Missense Mutation SEC23B chr20 18516299 18516299 G T g.18516299G>T ENST00000262544.2 c.1317G>T p.Glu439Asp (Splice) missense_variant,splice_region_variant benign Hep3B Missense Mutation CST2 chr20 23807102 23807102 G A g.23807102G>A ENST00000304725.2 c.196C>T p.Arg66Cys missense_variant possibly damaging Hep3B Missense Mutation ASXL1 chr20 31024985 31024985 G T g.31024985G>T ENST00000375687.4 c.4470G>T p.Leu1490Phe missense_variant probably damaging Hep3B Missense Mutation BPIFB2 chr20 31596417 31596417 C G g.31596417C>G ENST00000170150.3 c.37C>G p.Leu13Val missense_variant possibly damaging Hep3B Missense Mutation BPIFB4 chr20 31692637 31692637 G C g.31692637G>C ENST00000375483.3 c.1702G>C p.Val568Leu missense_variant possibly damaging Hep3B Missense Mutation BPIFA2 chr20 31763343 31763343 A C g.31763343A>C ENST00000253362.2 c.541A>C p.Ile181Leu missense_variant possibly damaging Hep3B Missense Mutation BPIFA1 chr20 31825926 31825926 A G g.31825926A>G ENST00000354297.4 c.226A>G p.Ile76Val missense_variant benign Hep3B Missense Mutation TSHZ2 chr20 51871711 51871711 A G g.51871711A>G ENST00000371497.5 c.1714A>G p.Thr572Ala missense_variant benign Hep3B Missense Mutation TIAM1 chr21 32595880 32595880 G C g.32595880G>C ENST00000286827.3 c.1837C>G p.Gln613Glu missense_variant possibly damaging Hep3B Missense Mutation RIBC2 chr22 45813812 45813812 A C g.45813812A>C ENST00000342894.3 c.323A>C p.E108A missense_variant benign Hep3B Missense Mutation TRABD chr22 50632055 50632055 G C g.50632055G>C ENST00000303434.4 c.84G>C p.Arg28Ser missense_variant benign Hep3B Missense Mutation SELO chr22 50655537 50655537 G A g.50655537G>A ENST00000380903.2 c.1825G>A p.E609K missense_variant probably damaging Hep3B Missense Mutation PLXNB2 chr22 50719246 50719246 G A g.50719246G>A ENST00000359337.4 c.3920C>T p.Pro1307Leu missense_variant benign Hep3B Missense Mutation ADM2 chr22 50921022 50921022 G A g.50921022G>A ENST00000395737.1 c.137G>A p.Ser46Asn missense_variant benign Hep3B Missense Mutation MYLK chr3 123456263 123456263 G A g.123456263G>A ENST00000346322.5 c.716C>T p.Ser239Leu missense_variant probably damaging Hep3B Missense Mutation TOPBP1 chr3 133356733 133356733 G C g.133356733G>C ENST00000260810.5 c.2507C>G p.Ser836Cys missense_variant probably damaging Hep3B Missense Mutation FOXL2 chr3 138665521 138665521 A G g.138665521A>G ENST00000330315.3 c.44T>C p.Leu15Pro missense_variant probably damaging Hep3B Missense Mutation TBC1D5 chr3 17202505 17202505 C T g.17202505C>T ENST00000253692.7 c.2338G>A p.Asp780Asn missense_variant benign Hep3B Missense Mutation SFMBT1 chr3 52962304 52962304 G C g.52962304G>C ENST00000296295.6 c.951C>G p.Asn317Lys missense_variant benign Hep3B Missense Mutation LMCD1 chr3 8590374 8590374 C T g.8590374C>T ENST00000157600.3 c.508C>T p.Arg170Cys missense_variant probably damaging Hep3B Missense Mutation GYPE chr4 144797982 144797982 T A g.144797982T>A ENST00000358615.4 c.163A>T p.Met55Leu missense_variant benign Hep3B Missense Mutation ZNF827 chr4 146823464 146823464 G A g.146823464G>A ENST00000379448.4 c.947C>T p.Pro316Leu missense_variant probably damaging Hep3B Missense Mutation CLDN22 chr4 184241346 184241346 G A g.184241346G>A ENST00000323319.5 c.26C>T p.Ala9Val missense_variant benign Hep3B Missense Mutation FAT1 chr4 187539169 187539169 A C g.187539169A>C ENST00000441802.2 c.8571T>G p.Ile2857Met missense_variant benign Hep3B Missense Mutation NELFA chr4 2010530 2010530 T G g.2010530T>G ENST00000382882.3 c.190A>C p.Lys64Gln missense_variant possibly damaging Hep3B Missense Mutation CFAP99 chr4 2451700 2451700 G A g.2451700G>A NM_001193282.1 c.763G>A p.Ala255Thr missense_variant NA Hep3B Missense Mutation TLR1 chr4 38798437 38798437 G C g.38798437G>C ENST00000308979.2 c.2016C>G p.Asn672Lys missense_variant probably damaging Hep3B Missense Mutation KIAA1211 chr4 57182472 57182472 G A g.57182472G>A ENST00000264229.6 c.2804G>A p.Gly935Glu missense_variant benign Hep3B Missense Mutation UGT2B17 chr4 69403368 69403368 G T g.69403368G>T ENST00000317746.2 c.1568C>A p.Thr523Lys missense_variant benign Hep3B Missense Mutation GPR78 chr4 8584292 8584292 C T g.8584292C>T ENST00000382487.4 c.703C>T p.Arg235Cys missense_variant probably damaging Hep3B Missense Mutation PKD2 chr4 88996805 88996805 G A g.88996805G>A ENST00000237596.2 c.2866G>A p.Glu956Lys missense_variant possibly damaging Hep3B Missense Mutation SLC26A1 chr4 985185 985185 A G g.985185A>G ENST00000361661.2 c.307T>C p.Tyr103His missense_variant probably damaging Hep3B Missense Mutation DNAH5 chr5 13751258 13751258 T C g.13751258T>C ENST00000265104.4 c.11140A>G p.Ile3714Val missense_variant benign Hep3B Missense Mutation DNAH5 chr5 13776718 13776718 T C g.13776718T>C ENST00000265104.4 c.9203A>G p.Glu3068Gly missense_variant possibly damaging Hep3B Missense Mutation PCDHAC2 chr5 140348396 140348396 A T g.140348396A>T ENST00000289269.5 c.2045A>T p.Asp682Val missense_variant probably damaging Hep3B Missense Mutation PCDHB1 chr5 140432895 140432895 G T g.140432895G>T ENST00000306549.3 c.1840G>T p.Gly614Trp missense_variant probably damaging Hep3B Missense Mutation PCDHGA5 chr5 140745773 140745773 G A g.140745773G>A ENST00000518069.1 c.1876G>A p.Val626Met missense_variant damaging Hep3B Missense Mutation PCDH12 chr5 141325046 141325046 G A g.141325046G>A ENST00000231484.3 c.3455C>T p.Thr1152Ile missense_variant benign Hep3B Missense Mutation TRIO chr5 14508514 14508514 C T g.14508514C>T ENST00000344204.4 c.9277C>T p.Leu3093Phe missense_variant probably damaging Hep3B Missense Mutation CD74 chr5 149782166 149782166 C T g.149782166C>T ENST00000377795.3 c.464G>A p.Arg155His missense_variant damaging Hep3B Missense Mutation WWC1 chr5 167812300 167812300 A T g.167812300A>T ENST00000265293.4 c.314A>T p.Glu105Val missense_variant probably damaging Hep3B Missense Mutation FOXI1 chr5 169535475 169535475 G A g.169535475G>A ENST00000306268.6 c.997G>A p.Gly333Ser missense_variant benign Hep3B Missense Mutation BTNL3 chr5 180432433 180432433 C G g.180432433C>G ENST00000342868.6 c.962C>G p.Ser321Cys missense_variant probably damaging Hep3B Missense Mutation CDH9 chr5 26881487 26881487 T C g.26881487T>C ENST00000231021.4 c.2128A>G p.Ile710Val missense_variant benign Hep3B Missense Mutation C5orf42 chr5 37154014 37154014 A G g.37154014A>G ENST00000425232.2 c.8039T>C p.Leu2680Pro missense_variant benign Hep3B Missense Mutation ADAMTS16 chr5 5209291 5209291 G A g.5209291G>A ENST00000274181.7 c.1537G>A p.Asp513Asn missense_variant probably damaging Hep3B Missense Mutation MAST4 chr5 66440591 66440591 A G g.66440591A>G ENST00000403625.2 c.2825A>G p.Glu942Gly missense_variant benign Hep3B Missense Mutation GFM2 chr5 74032707 74032707 G A g.74032707G>A ENST00000296805.3 c.1424C>T p.Ala475Val missense_variant benign Hep3B Missense Mutation ERAP1 chr5 96129561 96129561 G A g.96129561G>A ENST00000296754.3 c.1019C>T p.Ser340Phe missense_variant probably damaging Hep3B Missense Mutation AIM1 chr6 106973225 106973225 T C g.106973225T>C ENST00000369066.3 c.3152T>C p.Leu1051Pro missense_variant probably damaging Hep3B Missense Mutation FAM26D chr6 116879165 116879165 C T g.116879165C>T ENST00000368597.2 c.178C>T p.His246Tyr missense_variant benign Hep3B Missense Mutation RFX6 chr6 117252505 117252505 C A g.117252505C>A ENST00000332958.2 c.2623C>A p.Gln875Lys missense_variant benign Hep3B Missense Mutation FUCA2 chr6 143825354 143825354 A G g.143825354A>G ENST00000002165.6 c.448T>C p.Trp150Arg missense_variant probably damaging Hep3B Missense Mutation UTRN chr6 144794928 144794928 G A g.144794928G>A ENST00000367545.3 c.3139G>A p.Gly1047Arg missense_variant benign Hep3B Missense Mutation ADGB chr6 147123080 147123080 G A g.147123080G>A ENST00000397944.3 c.4751G>A p.Arg1584Gln missense_variant probably damaging Hep3B Missense Mutation WDR27 chr6 170043861 170043861 C A g.170043861C>A ENST00000333572.6 c.1679G>T p.Cys560Phe missense_variant probably damaging Hep3B Missense Mutation ZSCAN9 chr6 28200492 28200492 A T g.28200492A>T ENST00000252207.5 c.721A>T p.Ile241Leu missense_variant benign Hep3B Missense Mutation OR2H2 chr6 29556167 29556167 T C g.29556167T>C ENST00000383640.2 c.446T>C p.Ile149Thr missense_variant benign Hep3B Missense Mutation APOM chr6 31623843 31623843 G A g.31623843G>A ENST00000375916.3 c.100G>A p.Val34Met missense_variant benign Hep3B Missense Mutation ABHD16A chr6 31664729 31664729 T C g.31664729T>C ENST00000395952.3 c.425A>G p.Asn142Ser missense_variant benign Hep3B Missense Mutation UHRF1BP1 chr6 34826083 34826083 C A g.34826083C>A ENST00000192788.5 c.1950C>A p.His650Gln missense_variant benign Hep3B Missense Mutation FANCE chr6 35420528 35420528 G A g.35420528G>A ENST00000229769.2 c.206G>A p.Arg69Gln missense_variant benign Hep3B Missense Mutation DNAH8 chr6 38747761 38747761 C A g.38747761C>A ENST00000359357.3 c.1408C>A p.P470T missense_variant possibly damaging Hep3B Missense Mutation KIAA1009 chr6 84896252 84896252 T C g.84896252T>C ENST00000403245.3 c.1199A>G p.Gln400Arg missense_variant benign Hep3B Missense Mutation GJB7 chr6 87994407 87994407 C G g.87994407C>G ENST00000296882.3 c.224G>C p.Arg75Thr missense_variant probably damaging Hep3B Missense Mutation MUC17 chr7 100684218 100684218 T C g.100684218T>C ENST00000306151.4 c.9521T>C p.Met3174Thr missense_variant benign Hep3B Missense Mutation EPDR1 chr7 37960626 37960626 G A g.37960626G>A ENST00000559325.1 c.445G>A p.Gly29Ser missense_variant benign Hep3B Missense Mutation MYL7 chr7 44179407 44179407 G C g.44179407G>C ENST00000223364.3 c.351C>G p.Ser117Arg missense_variant benign Hep3B Missense Mutation PKD1L1 chr7 47947697 47947697 G A g.47947697G>A ENST00000289672.2 c.1379C>T p.Ala460Val missense_variant benign Hep3B Missense Mutation ZNF92 chr7 64863472 64863472 A C g.64863472A>C ENST00000328747.7 c.445A>C p.Lys149Gln missense_variant benign Hep3B Missense Mutation PCLO chr7 82585002 82585002 C T g.82585002C>T ENST00000333891.9 c.5267G>A p.Arg1756His missense_variant probably damaging Hep3B Missense Mutation SUN1 chr7 878614 878614 G A g.878614G>A ENST00000401592.1 c.257G>A p.Arg86Gln missense_variant possibly damaging Hep3B Missense Mutation ARPC1B chr7 98990344 98990344 G A g.98990344G>A ENST00000252725.5 c.834G>A p.Met278Ile missense_variant benign Hep3B Missense Mutation SLC45A4 chr8 142222364 142222364 C T g.142222364C>T ENST00000024061.3 c.2080G>A p.Glu694Lys missense_variant benign Hep3B Missense Mutation CSMD1 chr8 3087593 3087593 G T g.3087593G>T ENST00000537824.1 c.4314C>A p.Phe1438Leu missense_variant possibly damaging Hep3B Missense Mutation SPIDR chr8 48626132 48626132 A G g.48626132A>G ENST00000297423.4 c.2270A>G p.Glu757Gly missense_variant benign Hep3B Missense Mutation OTUD6B chr8 92082596 92082596 T A g.92082596T>A ENST00000285420.4 c.74T>A p.Leu25Gln missense_variant unknown Hep3B Missense Mutation LMX1B chr9 129455476 129455476 G T g.129455476G>T ENST00000355497.5 c.615G>T p.Gln205His missense_variant benign Hep3B Missense Mutation FUBP3 chr9 133501778 133501778 G C g.133501778G>C ENST00000319725.9 c.1003G>C p.Ala335Pro missense_variant benign Hep3B Missense Mutation RABL6 chr9 139734964 139734964 A G g.139734964A>G ENST00000311502.7 c.2180A>G p.Glu727Gly missense_variant probably damaging Hep3B Missense Mutation C8G chr9 139840216 139840216 G A g.139840216G>A ENST00000224181.3 c.269G>A p.Arg90Gln missense_variant probably damaging Hep3B Missense Mutation CCDC171 chr9 15874623 15874623 G C g.15874623G>C ENST00000297641.3 c.3562G>C p.Glu1188Gln missense_variant possibly damaging Hep3B Missense Mutation C9orf66 chr9 214568 214568 C T g.214568C>T ENST00000382387.2 c.829G>A p.Gly277Ser missense_variant probably damaging Hep3B Missense Mutation OR2S2 chr9 35957168 35957168 T C g.35957168T>C ENST00000341959.2 c.928A>G p.Arg310Gly missense_variant benign Hep3B Missense Mutation DOCK8 chr9 377074 377074 C T g.377074C>T ENST00000453981.1 c.2303C>T p.Ala768Val missense_variant benign Hep3B Missense Mutation ARMCX6 chrX 100871600 100871600 G A g.100871600G>A ENST00000361910.4 c.11C>T p.Ala4Val missense_variant probably damaging Hep3B Missense Mutation CLCN4 chrX 10153125 10153125 A C g.10153125A>C ENST00000380829.1 c.53A>C p.Asp18Ala missense_variant benign Hep3B Missense Mutation CLCN4 chrX 10153140 10153140 A T g.10153140A>T ENST00000380829.1 c.68A>T p.Asp23Val missense_variant benign Hep3B Missense Mutation TCEAL5 chrX 102529326 102529326 C T g.102529326C>T ENST00000372680.1 c.166G>A p.Asp56Asn missense_variant benign Hep3B Missense Mutation CXorf56 chrX 118699212 118699212 T A g.118699212T>A ENST00000371594.4 c.107A>T p.Gln36Leu missense_variant possibly damaging Hep3B Missense Mutation ATP11C chrX 138820146 138820146 G T g.138820146G>T ENST00000327569.3 c.3226C>A p.Leu1076Ile missense_variant probably damaging Hep3B Missense Mutation IDH3G chrX 153051648 153051648 G A g.153051648G>A ENST00000370092.3 c.1099C>T p.Pro367Ser missense_variant benign Hep3B Missense Mutation L1CAM chrX 153131169 153131169 C T g.153131169C>T ENST00000361699.4 c.2537G>A p.Arg846His missense_variant probably damaging Hep3B Missense Mutation NHS chrX 17746214 17746214 C A g.17746214C>A ENST00000380060.3 c.3925C>A p.Pro1309Thr missense_variant benign Hep3B Missense Mutation MROH5 chr8 142500285 142500285 G A g.142500285G>A ENST00000430863.1 c.629C>T p.Thr210Met missense_variant probably damaging HepaRG Missense Mutation NTNG1 chr1 107973489 107973489 G T g.107973489G>T ENST00000370065.1 c.1205G>T p.Gly402Val missense_variant possibly damaging HepaRG Missense Mutation CELSR2 chr1 109794206 109794206 C T g.109794206C>T ENST00000271332.3 c.1505C>T p.Ala502Val missense_variant possibly damaging HepaRG Missense Mutation MAGI3 chr1 114225717 114225717 A T g.114225717A>T ENST00000307546.9 c.3527A>T p.Glu1176Val missense_variant possibly damaging HepaRG Missense Mutation VPS13D chr1 12379644 12379644 G A g.12379644G>A ENST00000356315.4 c.7505G>A p.Arg2502Gln missense_variant benign HepaRG Missense Mutation RPRD2 chr1 150443417 150443417 T C g.150443417T>C ENST00000369068.4 c.1993T>C p.Ser665Pro missense_variant probably damaging HepaRG Missense Mutation MCL1 chr1 150551552 150551552 T C g.150551552T>C ENST00000307940.3 c.455A>G p.Asn152Ser missense_variant benign HepaRG Missense Mutation SLC27A3 chr1 153748286 153748286 C T g.153748286C>T ENST00000368661.3 c.454C>T p.Arg152Cys missense_variant benign HepaRG Missense Mutation YY1AP1 chr1 155630008 155630008 C A g.155630008C>A ENST00000295566.4 c.1831G>T p.Val611Leu missense_variant possibly damaging HepaRG Missense Mutation SLC25A34 chr1 16063144 16063144 C T g.16063144C>T ENST00000294454.5 c.164C>T p.Ala55Val missense_variant benign HepaRG Missense Mutation POGK chr1 166818803 166818803 G C g.166818803G>C ENST00000367875.1 c.987G>C p.Gln329His missense_variant probably damaging HepaRG Missense Mutation MDM4 chr1 204518437 204518437 C T g.204518437C>T ENST00000367182.3 c.1100C>T p.Ser367Leu missense_variant probably damaging HepaRG Missense Mutation VWA5B1 chr1 20672051 20672051 G A g.20672051G>A ENST00000289815.8 c.2729G>A p.Arg910Gln missense_variant benign HepaRG Missense Mutation ADCK3 chr1 227172295 227172295 T A g.227172295T>A ENST00000366777.3 c.1445T>A p.Phe482Tyr missense_variant possibly damaging HepaRG Missense Mutation EXO1 chr1 242020670 242020670 T A g.242020670T>A ENST00000348581.5 c.429T>A p.Asp143Glu missense_variant probably damaging HepaRG Missense Mutation KIF26B chr1 245847603 245847603 C T g.245847603C>T ENST00000407071.2 c.2327C>T p.Ala776Val missense_variant probably damaging HepaRG Missense Mutation OR1C1 chr1 247920895 247920895 T C g.247920895T>C ENST00000408896.2 c.814A>G p.Thr272Ala missense_variant benign HepaRG Missense Mutation SLC9A1 chr1 27426875 27426875 T C g.27426875T>C ENST00000263980.3 c.2371A>G p.Ile791Val missense_variant benign HepaRG Missense Mutation IFI6 chr1 27995753 27995753 C T g.27995753C>T ENST00000339145.4 c.73G>A p.Glu25Lys missense_variant benign HepaRG Missense Mutation SPOCD1 chr1 32279899 32279899 C T g.32279899C>T ENST00000360482.2 c.1036G>A p.Val346Ile missense_variant benign HepaRG Missense Mutation PRDM16 chr1 3328547 3328547 A C g.3328547A>C ENST00000270722.5 c.1786A>C p.Ser596Arg missense_variant possibly damaging HepaRG Missense Mutation EPHA10 chr1 38184480 38184480 G A g.38184480G>A ENST00000373048.4 c.2765C>T p.Thr922Ile missense_variant benign HepaRG Missense Mutation POMGNT1 chr1 46658618 46658618 C T g.46658618C>T ENST00000371984.3 c.1165G>A p.Ala389Thr missense_variant benign HepaRG Missense Mutation CYP4A22 chr1 47610625 47610625 G C g.47610625G>C ENST00000294337.3 c.1205G>C p.Gly402Ala missense_variant probably damaging HepaRG Missense Mutation NRD1 chr1 52256312 52256312 G T g.52256312G>T ENST00000354831.7 c.3265C>A p.Leu1089Ile missense_variant probably damaging HepaRG Missense Mutation BSND chr1 55472790 55472790 G T g.55472790G>T ENST00000371265.4 c.393G>T p.Leu131Phe missense_variant probably damaging HepaRG Missense Mutation SGIP1 chr1 67208766 67208766 G C g.67208766G>C ENST00000371037.4 c.2475G>C p.Leu825Phe missense_variant benign HepaRG Missense Mutation SEP15 chr1 87379773 87379773 G C g.87379773G>C ENST00000331835.5 c.13C>G p.P5A missense_variant benign HepaRG Missense Mutation SEMA4G chr10 102739712 102739712 G A g.102739712G>A ENST00000210633.3 c.1091G>A p.Arg364His missense_variant probably damaging HepaRG Missense Mutation COL17A1 chr10 105836074 105836074 G A g.105836074G>A ENST00000353479.5 c.316C>T p.Arg106Cys missense_variant probably damaging HepaRG Missense Mutation KIAA1598 chr10 118645923 118645923 C T g.118645923C>T ENST00000355371.4 c.1828G>A p.Glu610Lys missense_variant benign HepaRG Missense Mutation DNAJC1 chr10 22048373 22048373 C T g.22048373C>T ENST00000376980.3 c.1322G>A p.Arg441Gln missense_variant possibly damaging HepaRG Missense Mutation C10orf10 chr10 45472928 45472928 G A g.45472928G>A ENST00000298295.3 c.551C>T p.Ala184Val missense_variant benign HepaRG Missense Mutation EXPH5 chr11 108384269 108384269 T G g.108384269T>G ENST00000265843.4 c.1965A>C p.Lys655Asn missense_variant possibly damaging HepaRG Missense Mutation RDX chr11 110134929 110134929 G A g.110134929G>A ENST00000343115.4 c.223C>T p.Pro75Ser missense_variant probably damaging HepaRG Missense Mutation PHLDB1 chr11 118509618 118509618 G T g.118509618G>T ENST00000356063.5 c.2545G>T p.Ala849Ser missense_variant benign HepaRG Missense Mutation PHLDB1 chr11 118509619 118509619 C T g.118509619C>T ENST00000356063.5 c.2546C>T p.Ala849Val missense_variant benign HepaRG Missense Mutation MICAL2 chr11 12261049 12261049 A T g.12261049A>T ENST00000256194.4 c.2131A>T p.Asn711Tyr missense_variant possibly damaging HepaRG Missense Mutation LDHAL6A chr11 18497963 18497963 G A g.18497963G>A ENST00000280706.2 c.625G>A p.Val209Ile missense_variant benign HepaRG Missense Mutation MRGPRG chr11 3239775 3239775 G T g.3239775G>T ENST00000332314.3 c.269C>A p.Ala90Glu missense_variant damaging HepaRG Missense Mutation ARFGAP2 chr11 47197406 47197406 T C g.47197406T>C ENST00000426335.2 c.260A>G p.Asn87Ser missense_variant benign HepaRG Missense Mutation OR5AK2 chr11 56756785 56756785 A G g.56756785A>G ENST00000326855.2 c.397A>G p.Thr133Ala missense_variant benign HepaRG Missense Mutation OR52B1P chr11 6173737 6173737 T C g.6173737T>C ENST00000316506.1 c.82A>G p.I28V missense_variant NA HepaRG Missense Mutation SLC22A9 chr11 63141131 63141131 C G g.63141131C>G ENST00000279178.3 c.522C>G p.Phe174Leu missense_variant benign HepaRG Missense Mutation PYGM chr11 64527190 64527190 G A g.64527190G>A ENST00000164139.3 c.181C>T p.Arg61Cys missense_variant probably damaging HepaRG Missense Mutation ZNF215 chr11 6962879 6962879 C T g.6962879C>T ENST00000278319.5 c.478C>T p.Pro160Ser missense_variant benign HepaRG Missense Mutation ZNF215 chr11 6977695 6977695 G T g.6977695G>T ENST00000278319.5 c.1487G>T p.Ser496Ile missense_variant benign HepaRG Missense Mutation NUMA1 chr11 71715786 71715786 C G g.71715786C>G ENST00000393695.3 c.5906G>C p.Ser1969Thr missense_variant possibly damaging HepaRG Missense Mutation KCNE3 chr11 74168560 74168560 C T g.74168560C>T ENST00000310128.4 c.49G>A p.Val17Met missense_variant probably damaging HepaRG Missense Mutation OR2AT4 chr11 74800169 74800169 G A g.74800169G>A ENST00000305159.3 c.590C>T p.Thr197Ile missense_variant benign HepaRG Missense Mutation KIAA1731 chr11 93433239 93433239 C G g.93433239C>G ENST00000325212.6 c.5161C>G p.Leu1721Val missense_variant probably damaging HepaRG Missense Mutation JRKL chr11 96125238 96125238 T G g.96125238T>G ENST00000332349.4 c.1425T>G p.His475Gln missense_variant benign HepaRG Missense Mutation WNK1 chr12 1009797 1009797 G C g.1009797G>C ENST00000315939.6 c.6604G>C p.Gly2202Arg missense_variant probably damaging HepaRG Missense Mutation UTP20 chr12 101777002 101777002 G A g.101777002G>A ENST00000261637.4 c.7840G>A p.Gly2614Ser missense_variant benign HepaRG Missense Mutation STAB2 chr12 104015872 104015872 G T g.104015872G>T ENST00000388887.2 c.470G>T p.Gly157Val missense_variant probably damaging HepaRG Missense Mutation ACACB chr12 109680377 109680377 T G g.109680377T>G ENST00000338432.7 c.5158T>G p.Phe1720Val missense_variant benign HepaRG Missense Mutation FOXN4 chr12 109719332 109719332 G A g.109719332G>A ENST00000299162.5 c.1174C>T p.Pro392Ser missense_variant benign HepaRG Missense Mutation KNTC1 chr12 123062247 123062247 C T g.123062247C>T ENST00000333479.7 c.2750C>T p.Ser917Phe missense_variant probably damaging HepaRG Missense Mutation RHNO1 chr12 2997174 2997174 C T g.2997174C>T ENST00000489288.2 c.266C>T p.Ser89Phe missense_variant benign HepaRG Missense Mutation SLC2A13 chr12 40499412 40499412 C T g.40499412C>T ENST00000280871.4 c.199G>A p.Ala67Thr missense_variant benign HepaRG Missense Mutation KMT2D chr12 49420111 49420111 G A g.49420111G>A ENST00000301067.7 c.15638C>T p.Thr5213Met missense_variant probably damaging HepaRG Missense Mutation KRT1 chr12 53074123 53074123 G C g.53074123G>C ENST00000252244.3 c.10C>G p.Gln4Glu missense_variant benign HepaRG Missense Mutation GLI1 chr12 57864222 57864222 C A g.57864222C>A ENST00000228682.2 c.1699C>A p.Pro567Thr missense_variant probably damaging HepaRG Missense Mutation TSFM chr12 58190032 58190032 C T g.58190032C>T ENST00000323833.8 c.707C>T p.Ser236Phe missense_variant probably damaging HepaRG Missense Mutation VWF chr12 6127923 6127923 T C g.6127923T>C ENST00000261405.5 c.4661A>G p.Glu1554Gly missense_variant benign HepaRG Missense Mutation DUSP6 chr12 89743044 89743044 A G g.89743044A>G ENST00000279488.7 c.1133T>C p.Leu378Pro missense_variant probably damaging HepaRG Missense Mutation FGD6 chr12 95486581 95486581 G A g.95486581G>A ENST00000343958.4 c.3641C>T p.Ser1214Leu missense_variant probably damaging HepaRG Missense Mutation ATP11A chr13 113473655 113473655 C T g.113473655C>T ENST00000283558.8 c.608C>T p.Thr203Ile missense_variant benign HepaRG Missense Mutation CHAMP1 chr13 115091427 115091427 C A g.115091427C>A ENST00000361283.1 c.2110C>A p.Arg704Ser missense_variant probably damaging HepaRG Missense Mutation LNX2 chr13 28136651 28136651 C A g.28136651C>A ENST00000316334.3 c.1123G>T p.Ala375Ser missense_variant probably damaging HepaRG Missense Mutation FREM2 chr13 39435618 39435618 G A g.39435618G>A ENST00000280481.7 c.7570G>A p.Ala2524Thr missense_variant probably damaging HepaRG Missense Mutation DACH1 chr13 72131201 72131201 C A g.72131201C>A ENST00000305425.4 c.1531G>T p.Gly511Cys missense_variant probably damaging HepaRG Missense Mutation WDR20 chr14 102675036 102675036 T C g.102675036T>C ENST00000335263.5 c.529T>C p.Tyr177His missense_variant probably damaging HepaRG Missense Mutation LRRC16B chr14 24538040 24538040 G A g.24538040G>A ENST00000342740.5 c.3847G>A p.Val1283Met missense_variant probably damaging HepaRG Missense Mutation SYNE2 chr14 64522761 64522761 T C g.64522761T>C ENST00000344113.4 c.9844T>C p.Tyr3282His missense_variant benign HepaRG Missense Mutation SYNDIG1L chr14 74876207 74876207 C G g.74876207C>G ENST00000331628.3 c.241G>C p.Glu81Gln missense_variant probably damaging HepaRG Missense Mutation UNC79 chr14 93994925 93994925 T A g.93994925T>A ENST00000256339.4 c.454T>A p.Ser152Thr missense_variant possibly damaging HepaRG Missense Mutation SERPINA3 chr14 95080795 95080795 C T g.95080795C>T ENST00000393078.3 c.17C>T p.Pro6Leu missense_variant benign HepaRG Missense Mutation RPAP1 chr15 41815028 41815028 A G g.41815028A>G ENST00000304330.4 c.2677T>C p.Phe893Leu missense_variant benign HepaRG Missense Mutation SPTBN5 chr15 42145930 42145930 C T g.42145930C>T ENST00000320955.6 c.9830G>A p.Arg3277Gln missense_variant benign HepaRG Missense Mutation MAP1A chr15 43814594 43814594 T A g.43814594T>A ENST00000300231.5 c.923T>A p.Leu308His missense_variant probably damaging HepaRG Missense Mutation SPG11 chr15 44892765 44892765 G A g.44892765G>A ENST00000261866.7 c.3586C>T p.Arg1196Cys missense_variant probably damaging HepaRG Missense Mutation DMXL2 chr15 51791954 51791954 C T g.51791954C>T ENST00000251076.5 c.3467G>A p.Ser1156Asn missense_variant benign HepaRG Missense Mutation CSPG4 chr15 75980438 75980438 G A g.75980438G>A ENST00000308508.5 c.2968C>T p.Arg990Cys missense_variant probably damaging HepaRG Missense Mutation BRICD5 chr16 2259635 2259635 C G g.2259635C>G ENST00000328540.3 c.511G>C p.Glu171Gln missense_variant probably damaging HepaRG Missense Mutation SRRM2 chr16 2816323 2816323 C T g.2816323C>T ENST00000301740.8 c.5794C>T p.Arg1932Cys missense_variant possibly damaging HepaRG Missense Mutation SULT1A2 chr16 28604590 28604590 A G g.28604590A>G ENST00000335715.4 c.577T>C p.Tyr193His missense_variant probably damaging HepaRG Missense Mutation TBC1D10B chr16 30370573 30370573 G A g.30370573G>A ENST00000409939.3 c.1562C>T p.Thr521Met missense_variant probably damaging HepaRG Missense Mutation ZSCAN32 chr16 3433084 3433084 C A g.3433084C>A ENST00000396846.3 c.1862G>T p.Ser621Ile missense_variant benign HepaRG Missense Mutation SLC12A3 chr16 56901022 56901022 G A g.56901022G>A ENST00000438926.2 c.323G>A p.Arg108Gln missense_variant benign HepaRG Missense Mutation ACD chr16 67694347 67694347 C T g.67694347C>T ENST00000219251.8 c.35G>A p.Arg12Lys missense_variant possibly damaging HepaRG Missense Mutation CIRH1A chr16 69191011 69191011 C T g.69191011C>T ENST00000314423.7 c.1312C>T p.Arg438Cys missense_variant benign HepaRG Missense Mutation MSLNL chr16 820254 820254 G T g.820254G>T ENST00000442466.1 c.1678C>A p.His560Asn missense_variant benign HepaRG Missense Mutation SLC7A5 chr16 87870149 87870149 C T g.87870149C>T ENST00000261622.4 c.1245G>A p.Met415Ile missense_variant possibly damaging HepaRG Missense Mutation PMM2 chr16 8891792 8891792 C G g.8891792C>G ENST00000268261.4 c.53C>G p.Thr18Ser missense_variant probably damaging HepaRG Missense Mutation FLII chr17 18151129 18151129 T G g.18151129T>G ENST00000327031.4 c.2329A>C p.Ile777Leu missense_variant possibly damaging HepaRG Missense Mutation WIPF2 chr17 38421342 38421342 C T g.38421342C>T ENST00000323571.4 c.914C>T p.Ser305Phe missense_variant probably damaging HepaRG Missense Mutation KRT36 chr17 39643895 39643895 A G g.39643895A>G ENST00000328119.6 c.794T>C p.Met265Thr missense_variant benign HepaRG Missense Mutation VEZF1 chr17 56052180 56052180 A C g.56052180A>C ENST00000581208.1 c.1220T>G p.Val407Gly missense_variant benign HepaRG Missense Mutation TEX14 chr17 56679943 56679943 G T g.56679943G>T ENST00000240361.8 c.1363C>A p.Pro455Thr missense_variant probably damaging HepaRG Missense Mutation USP36 chr17 76795004 76795004 A G g.76795004A>G ENST00000312010.6 c.3226T>C p.Phe1076Leu missense_variant probably damaging HepaRG Missense Mutation CBX8 chr17 77769327 77769327 C T g.77769327C>T ENST00000269385.4 c.277G>A p.Glu93Lys missense_variant probably damaging HepaRG Missense Mutation CBX4 chr17 77808522 77808522 C A g.77808522C>A ENST00000269397.4 c.919G>T p.Asp307Tyr missense_variant probably damaging HepaRG Missense Mutation SETBP1 chr18 42533261 42533261 T C g.42533261T>C ENST00000282030.5 c.3956T>C p.Met1319Thr missense_variant benign HepaRG Missense Mutation ACAA2 chr18 47310279 47310279 C T g.47310279C>T ENST00000285093.10 c.1132G>A p.Val378Ile missense_variant benign HepaRG Missense Mutation TYK2 chr19 10468556 10468556 G C g.10468556G>C ENST00000264818.6 c.2350C>G p.Leu784Val missense_variant benign HepaRG Missense Mutation PKN1 chr19 14569136 14569136 G T g.14569136G>T ENST00000242783.6 c.1368G>T p.Glu456Asp missense_variant benign HepaRG Missense Mutation PKN1 chr19 14582589 14582589 G A g.14582589G>A ENST00000242783.6 c.2822G>A p.Gly941Asp missense_variant probably damaging HepaRG Missense Mutation CPAMD8 chr19 17104357 17104357 C T g.17104357C>T ENST00000291440.3 c.1276G>A p.Val426Met missense_variant,NMD_transcript_variant probably damaging HepaRG Missense Mutation GDF15 chr19 18497267 18497267 A G g.18497267A>G ENST00000252809.3 c.268A>G p.Thr90Ala missense_variant possibly damaging HepaRG Missense Mutation TSHZ3 chr19 31768768 31768768 G A g.31768768G>A ENST00000240587.4 c.1931C>T p.Ser644Phe missense_variant probably damaging HepaRG Missense Mutation ZNF461 chr19 37130804 37130804 T C g.37130804T>C ENST00000588268.1 c.443A>G p.Asn148Ser missense_variant benign HepaRG Missense Mutation ZNF571 chr19 38056611 38056611 T C g.38056611T>C ENST00000328550.2 c.719A>G p.Glu240Gly missense_variant possibly damaging HepaRG Missense Mutation ZNF235 chr19 44803036 44803036 C G g.44803036C>G ENST00000291182.4 c.163G>C p.Asp55His missense_variant possibly damaging HepaRG Missense Mutation ZNF865 chr19 56125717 56125717 G T g.56125717G>T ENST00000568956.1 c.733G>T p.Val245Leu missense_variant NA HepaRG Missense Mutation ZSCAN5B chr19 56701792 56701792 T C g.56701792T>C ENST00000358992.3 c.892A>G p.Arg298Gly missense_variant benign HepaRG Missense Mutation PEG3 chr19 57326257 57326257 G T g.57326257G>T ENST00000326441.9 c.3553C>A p.His1185Asn missense_variant probably damaging HepaRG Missense Mutation DUS3L chr19 5786825 5786825 G A g.5786825G>A ENST00000309061.7 c.1421C>T p.Thr474Ile missense_variant probably damaging HepaRG Missense Mutation CNOT11 chr2 101883167 101883167 A G g.101883167A>G ENST00000289382.3 c.1064A>G p.Lys355Arg missense_variant possibly damaging HepaRG Missense Mutation IL1F10 chr2 113832927 113832927 G A g.113832927G>A ENST00000337569.3 c.445G>A p.Glu149Lys missense_variant probably damaging HepaRG Missense Mutation PCDP1 chr2 120362461 120362461 T C g.120362461T>C ENST00000413369.3 c.922T>C p.Y308H missense_variant probably damaging HepaRG Missense Mutation TUBA3E chr2 130951386 130951386 A C g.130951386A>C ENST00000312988.7 c.1029T>G p.Phe343Leu missense_variant possibly damaging HepaRG Missense Mutation ARHGEF4 chr2 131688828 131688828 A G g.131688828A>G ENST00000326016.5 c.298A>G p.Lys100Glu (Splice) missense_variant,splice_region_variant benign HepaRG Missense Mutation ITGB6 chr2 160964288 160964288 C G g.160964288C>G ENST00000283249.2 c.2170G>C p.Val724Leu missense_variant benign HepaRG Missense Mutation XIRP2 chr2 168099787 168099787 C G g.168099787C>G ENST00000295237.9 c.1885C>G p.Leu629Val missense_variant probably damaging HepaRG Missense Mutation RAPGEF4 chr2 173916443 173916443 A G g.173916443A>G ENST00000397081.3 c.2984A>G p.Asn995Ser missense_variant probably damaging HepaRG Missense Mutation NFE2L2 chr2 178098799 178098799 T G g.178098799T>G ENST00000397062.3 c.246A>C p.Glu82Asp missense_variant probably damaging HepaRG Missense Mutation TTN chr2 179440780 179440780 A T g.179440780A>T ENST00000591111.1 c.65156T>A p.Leu21719His missense_variant probably damaging HepaRG Missense Mutation CERKL chr2 182412428 182412428 G C g.182412428G>C ENST00000339098.5 c.1263C>G p.Ile421Met missense_variant possibly damaging HepaRG Missense Mutation ASNSD1 chr2 190532539 190532539 G A g.190532539G>A ENST00000260952.4 c.1514G>A p.Arg505His missense_variant probably damaging HepaRG Missense Mutation BARD1 chr2 215674175 215674175 G A g.215674175G>A ENST00000260947.4 c.119C>T p.Ala40Val missense_variant probably damaging HepaRG Missense Mutation CXCR2 chr2 219000398 219000398 A G g.219000398A>G ENST00000318507.2 c.874A>G p.Ile292Val missense_variant benign HepaRG Missense Mutation SPEG chr2 220337615 220337615 C T g.220337615C>T ENST00000312358.7 c.3944C>T p.Pro1315Leu missense_variant probably damaging HepaRG Missense Mutation SPEG chr2 220353345 220353345 G A g.220353345G>A ENST00000312358.7 c.7984G>A p.Val2662Ile missense_variant benign HepaRG Missense Mutation UBE2F chr2 238896625 238896625 A G g.238896625A>G ENST00000272930.4 c.139A>G p.Asn47Asp missense_variant benign HepaRG Missense Mutation DRC1 chr2 26677523 26677523 G A g.26677523G>A ENST00000288710.2 c.1928G>A p.Arg643Gln missense_variant benign HepaRG Missense Mutation ACP1 chr2 272065 272065 G A g.272065G>A ENST00000272065.5 c.146G>A p.Gly49Glu missense_variant benign HepaRG Missense Mutation SLC5A6 chr2 27428294 27428294 C G g.27428294C>G ENST00000310574.3 c.658G>C p.Val220Leu missense_variant possibly damaging HepaRG Missense Mutation TMEM178A chr2 39893224 39893224 G A g.39893224G>A ENST00000281961.2 c.110G>A p.Arg37Gln missense_variant probably damaging HepaRG Missense Mutation SOX11 chr2 5833161 5833161 A T g.5833161A>T ENST00000322002.3 c.308A>T p.Glu103Val missense_variant probably damaging HepaRG Missense Mutation SNRNP27 chr2 70131418 70131418 G A g.70131418G>A ENST00000244227.3 c.446G>A p.Arg149Lys missense_variant possibly damaging HepaRG Missense Mutation ADD2 chr2 70890670 70890670 C T g.70890670C>T ENST00000264436.4 c.2068G>A p.Gly690Ser missense_variant probably damaging HepaRG Missense Mutation RALY chr20 32659935 32659935 A G g.32659935A>G ENST00000246194.3 c.55A>G p.Ile19Val missense_variant possibly damaging HepaRG Missense Mutation TRPC4AP chr20 33645355 33645355 A G g.33645355A>G ENST00000252015.2 c.434T>C p.Met145Thr missense_variant possibly damaging HepaRG Missense Mutation DLGAP4 chr20 35064599 35064599 C G g.35064599C>G ENST00000339266.5 c.1087C>G p.Arg363Gly missense_variant benign HepaRG Missense Mutation DLGAP4 chr20 35064611 35064611 G C g.35064611G>C ENST00000339266.5 c.1099G>C p.Gly367Arg missense_variant probably damaging HepaRG Missense Mutation ZNFX1 chr20 47864237 47864237 A C g.47864237A>C ENST00000371752.1 c.5324T>G p.Ile1775Arg missense_variant benign HepaRG Missense Mutation PARD6B chr20 49366778 49366778 G A g.49366778G>A ENST00000371610.2 c.872G>A p.Ser291Asn missense_variant possibly damaging HepaRG Missense Mutation NPBWR2 chr20 62738120 62738120 C T g.62738120C>T ENST00000369768.1 c.65G>A p.Gly22Asp missense_variant benign HepaRG Missense Mutation SLC35E4 chr22 31032445 31032445 G T g.31032445G>T ENST00000300385.8 c.8G>T p.Arg3Leu missense_variant benign HepaRG Missense Mutation CELSR1 chr22 46760628 46760628 C T g.46760628C>T ENST00000262738.3 c.8560G>A p.Ala2854Thr missense_variant benign HepaRG Missense Mutation NXPE3 chr3 101535672 101535672 G C g.101535672G>C ENST00000273347.5 c.956G>C p.Gly319Ala missense_variant benign HepaRG Missense Mutation KIAA2018 chr3 113375341 113375341 G A g.113375341G>A ENST00000316407.4 c.5188C>T p.Arg1730Cys missense_variant probably damaging HepaRG Missense Mutation PLS1 chr3 142402911 142402911 G A g.142402911G>A ENST00000337777.3 c.643G>A p.Ala215Thr missense_variant possibly damaging HepaRG Missense Mutation CPB1 chr3 148545857 148545857 C T g.148545857C>T ENST00000282957.4 c.140C>T p.Thr47Met missense_variant probably damaging HepaRG Missense Mutation SI chr3 164714418 164714418 A C g.164714418A>C ENST00000264382.3 c.4597T>G p.Phe1533Val missense_variant possibly damaging HepaRG Missense Mutation LMLN chr3 197687185 197687185 G T g.197687185G>T ENST00000330198.4 c.93G>T p.Trp31Cys missense_variant possibly damaging HepaRG Missense Mutation CRBN chr3 3214563 3214563 A G g.3214563A>G ENST00000231948.4 c.424T>C p.Tyr142His missense_variant probably damaging HepaRG Missense Mutation COL7A1 chr3 48630625 48630625 C T g.48630625C>T ENST00000328333.8 c.592G>A p.Val198Ile missense_variant benign HepaRG Missense Mutation P4HTM chr3 49041623 49041623 C T g.49041623C>T ENST00000343546.4 c.817C>T p.Arg273Trp missense_variant probably damaging HepaRG Missense Mutation PBRM1 chr3 52651343 52651343 C T g.52651343C>T ENST00000296302.7 c.1753G>A p.Gly585Arg missense_variant possibly damaging HepaRG Missense Mutation PDZRN3 chr3 73453470 73453470 A T g.73453470A>T ENST00000263666.4 c.995T>A p.Val332Glu missense_variant probably damaging HepaRG Missense Mutation LARP7 chr4 113571676 113571676 G A g.113571676G>A ENST00000324052.6 c.1354G>A p.Val452Met missense_variant possibly damaging HepaRG Missense Mutation TLR2 chr4 154625716 154625716 A C g.154625716A>C ENST00000260010.6 c.1657A>C p.Lys553Gln missense_variant benign HepaRG Missense Mutation FAM114A1 chr4 38879974 38879974 C T g.38879974C>T ENST00000358869.2 c.275C>T p.Ala92Val missense_variant benign HepaRG Missense Mutation KCTD8 chr4 44449608 44449608 C G g.44449608C>G ENST00000360029.3 c.933G>C p.Trp311Cys missense_variant probably damaging HepaRG Missense Mutation GUF1 chr4 44682831 44682831 A G g.44682831A>G ENST00000281543.5 c.398A>G p.Gln133Arg missense_variant benign HepaRG Missense Mutation LRRC66 chr4 52883306 52883306 A C g.52883306A>C ENST00000343457.3 c.474T>G p.Asn158Lys missense_variant probably damaging HepaRG Missense Mutation AASDH chr4 57211435 57211435 T A g.57211435T>A ENST00000205214.6 c.2510A>T p.Tyr837Phe missense_variant possibly damaging HepaRG Missense Mutation AC008948.1 chr5 101570628 101570628 T C g.101570628T>C ENST00000597120.1 c.182T>C p.L61S missense_variant NA HepaRG Missense Mutation ZNF608 chr5 124036957 124036957 G T g.124036957G>T ENST00000306315.5 c.912C>A p.Asp304Glu missense_variant probably damaging HepaRG Missense Mutation P4HA2 chr5 131531140 131531140 A C g.131531140A>C ENST00000166534.4 c.1405T>G p.Phe469Val missense_variant probably damaging HepaRG Missense Mutation PDLIM4 chr5 131607123 131607123 C T g.131607123C>T ENST00000253754.3 c.634C>T p.Arg212Cys missense_variant probably damaging HepaRG Missense Mutation BRD8 chr5 137504996 137504996 C G g.137504996C>G ENST00000230901.5 c.557G>C p.Arg186Pro missense_variant probably damaging HepaRG Missense Mutation FBXO38 chr5 147819348 147819348 A G g.147819348A>G ENST00000394370.3 c.2938A>G p.Ile980Val missense_variant benign HepaRG Missense Mutation ABLIM3 chr5 148620254 148620254 G A g.148620254G>A ENST00000309868.7 c.1220G>A p.Arg407Gln missense_variant probably damaging HepaRG Missense Mutation RBM22 chr5 150076213 150076213 T C g.150076213T>C ENST00000199814.4 c.427A>G p.Thr143Ala missense_variant benign HepaRG Missense Mutation SOX30 chr5 157078360 157078360 T C g.157078360T>C ENST00000265007.6 c.727A>G p.Ile243Val missense_variant possibly damaging HepaRG Missense Mutation ZFP2 chr5 178359217 178359217 C A g.178359217C>A ENST00000361362.2 c.903C>A p.Asn301Lys missense_variant possibly damaging HepaRG Missense Mutation C5orf42 chr5 37169333 37169333 C A g.37169333C>A ENST00000425232.2 c.6793G>T p.Asp2265Tyr missense_variant probably damaging HepaRG Missense Mutation PDE8B chr5 76717648 76717648 T G g.76717648T>G ENST00000264917.5 c.2253T>G p.Ile751Met (Splice) missense_variant,splice_region_variant benign HepaRG Missense Mutation GPR98 chr5 89990041 89990041 G A g.89990041G>A ENST00000405460.2 c.7468G>A p.Ala2490Thr missense_variant possibly damaging HepaRG Missense Mutation AL033381.1 chr6 1102387 1102387 G A g.1102387G>A ENST00000314040.1 c.371G>A p.R124K missense_variant NA HepaRG Missense Mutation L3MBTL3 chr6 130407327 130407327 G T g.130407327G>T ENST00000361794.2 c.1450G>T p.Val484Leu missense_variant benign HepaRG Missense Mutation TRIM10 chr6 30128272 30128272 G A g.30128272G>A ENST00000376704.3 c.364C>T p.Arg122Trp missense_variant probably damaging HepaRG Missense Mutation TAP1 chr6 32816790 32816790 T C g.32816790T>C ENST00000354258.4 c.1534A>G p.Met512Val missense_variant benign HepaRG Missense Mutation DNAH8 chr6 38783287 38783287 G A g.38783287G>A ENST00000359357.3 c.2726G>A p.R909H missense_variant probably damaging HepaRG Missense Mutation ABCC10 chr6 43400454 43400454 G T g.43400454G>T ENST00000372530.4 c.736G>T p.Asp246Tyr missense_variant probably damaging HepaRG Missense Mutation CDC5L chr6 44394256 44394256 C T g.44394256C>T ENST00000371477.3 c.1688C>T p.Pro563Leu missense_variant possibly damaging HepaRG Missense Mutation GPR111 chr6 47647886 47647886 A G g.47647886A>G ENST00000398742.2 c.347A>G p.Asp184Gly missense_variant possibly damaging HepaRG Missense Mutation PTCHD4 chr6 47847228 47847228 C T g.47847228C>T ENST00000339488.4 c.1352G>A p.Arg451His missense_variant possibly damaging HepaRG Missense Mutation TBX18 chr6 85473695 85473695 C T g.85473695C>T ENST00000369663.5 c.205G>A p.Gly69Arg missense_variant benign HepaRG Missense Mutation NRCAM chr7 107872811 107872811 C T g.107872811C>T ENST00000379022.4 c.386G>A p.Arg129His missense_variant benign HepaRG Missense Mutation CPED1 chr7 120655885 120655885 C T g.120655885C>T ENST00000310396.5 c.416C>T p.Pro139Leu missense_variant benign HepaRG Missense Mutation OR2F2 chr7 143633023 143633023 G A g.143633023G>A ENST00000408955.2 c.698G>A p.Gly233Glu missense_variant probably damaging HepaRG Missense Mutation NOBOX chr7 144096544 144096544 T C g.144096544T>C ENST00000467773.1 c.1186A>G p.Met396Val missense_variant benign HepaRG Missense Mutation SLC38A3 chr3 50252870 50252870 C T g.50252870C>T NM_006841.4 c.352C>T p.L118F missense_variant probably damaging HepaRG Missense Mutation LOC100996634 chr6 109560540 109560540 G A g.109560540G>A NM_001277339.1 c.130G>A p.V44I missense_variant benign HepaRG Missense Mutation HNRNPA2B1 chr7 26237250 26237250 C A g.26237250C>A ENST00000354667.4 c.145G>T p.Asp49Tyr missense_variant probably damaging HepaRG Missense Mutation TNRC18 chr7 5364791 5364791 G A g.5364791G>A ENST00000399537.4 c.6236C>T p.Ala2079Val missense_variant benign HepaRG Missense Mutation POR chr7 75608784 75608784 G A g.75608784G>A ENST00000394893.1 c.253G>A p.Val85Met missense_variant probably damaging HepaRG Missense Mutation PPP1R9A chr7 94540744 94540744 C T g.94540744C>T ENST00000289495.5 c.1319C>T p.Ser440Leu missense_variant benign HepaRG Missense Mutation RP1L1 chr8 10470571 10470571 G A g.10470571G>A ENST00000382483.3 c.1037C>T p.Ala346Val missense_variant probably damaging HepaRG Missense Mutation GATA4 chr8 11614543 11614543 C T g.11614543C>T ENST00000335135.4 c.1097C>T p.Thr366Met missense_variant probably damaging HepaRG Missense Mutation TSTA3 chr8 144698374 144698374 G A g.144698374G>A ENST00000425753.2 c.163C>T p.Arg55Cys missense_variant probably damaging HepaRG Missense Mutation ENTPD4 chr8 23305351 23305351 G C g.23305351G>C ENST00000356206.6 c.254C>G p.Pro85Arg missense_variant probably damaging HepaRG Missense Mutation BRF2 chr8 37706142 37706142 G C g.37706142G>C ENST00000220659.6 c.186C>G p.Asn62Lys missense_variant benign HepaRG Missense Mutation CHRNB3 chr8 42591694 42591694 T G g.42591694T>G ENST00000289957.2 c.1310T>G p.Val437Gly missense_variant possibly damaging HepaRG Missense Mutation PRKDC chr8 48772203 48772203 G C g.48772203G>C ENST00000314191.2 c.6173C>G p.P2058R missense_variant benign HepaRG Missense Mutation TTPA chr8 63985580 63985580 C G g.63985580C>G ENST00000260116.4 c.272G>C p.Ser91Thr missense_variant benign HepaRG Missense Mutation MTDH chr8 98731394 98731394 G A g.98731394G>A ENST00000336273.3 c.1498G>A p.Glu500Lys missense_variant benign HepaRG Missense Mutation STK3 chr8 99779594 99779594 T C g.99779594T>C ENST00000419617.2 c.113A>G p.Tyr38Cys missense_variant probably damaging HepaRG Missense Mutation C9orf156 chr9 100667157 100667157 C T g.100667157C>T ENST00000375119.3 c.1184G>A p.Arg395His missense_variant probably damaging HepaRG Missense Mutation SEC61B chr9 101984837 101984837 A G g.101984837A>G ENST00000223641.4 c.13A>G p.Thr5Ala missense_variant benign HepaRG Missense Mutation PRRC2B chr9 134350427 134350427 A C g.134350427A>C ENST00000357304.4 c.2911A>C p.Thr971Pro missense_variant benign HepaRG Missense Mutation RECK chr9 36080620 36080620 A G g.36080620A>G ENST00000377966.3 c.424A>G p.Ile142Val missense_variant possibly damaging HepaRG Missense Mutation FAM120A chr9 96261144 96261144 T C g.96261144T>C ENST00000277165.6 c.1006T>C p.Ser336Pro missense_variant benign HepaRG Missense Mutation COL4A6 chrX 107449776 107449776 A G g.107449776A>G ENST00000372216.4 c.584T>C p.Val195Ala missense_variant benign HepaRG Missense Mutation IRS4 chrX 107977468 107977468 T A g.107977468T>A ENST00000372129.2 c.2107A>T p.Met703Leu missense_variant probably damaging HepaRG Missense Mutation CTPS2 chrX 16701264 16701264 C A g.16701264C>A ENST00000359276.4 c.958G>T p.Ala320Ser missense_variant benign HepaRG Missense Mutation ARSD chrX 2843789 2843789 A G g.2843789A>G ENST00000381154.1 c.62T>C p.Leu21Pro missense_variant possibly damaging HepaRG Missense Mutation OTC chrX 38226584 38226584 C A g.38226584C>A ENST00000039007.4 c.118C>A p.Arg40Ser missense_variant probably damaging B1 Missense Mutation TRMT13 chr1 100598759 100598759 G T g.100598759G>T ENST00000370141.2 c.35G>T p.Gly12Val missense_variant benign B1 Missense Mutation GNAT2 chr1 110146010 110146010 A G g.110146010A>G ENST00000351050.3 c.1031T>C p.Ile344Thr missense_variant probably damaging B1 Missense Mutation DDX20 chr1 112309199 112309199 A T g.112309199A>T ENST00000369702.4 c.2153A>T p.Gln718Leu missense_variant benign B1 Missense Mutation SCNN1D chr1 1216859 1216859 C T g.1216859C>T ENST00000379101.4 c.146C>T p.Thr49Ile missense_variant,NMD_transcript_variant unknown B1 Missense Mutation VPS45 chr1 150040693 150040693 A G g.150040693A>G ENST00000369130.3 c.100A>G p.Ile34Val missense_variant benign B1 Missense Mutation CCDC19 chr1 159854305 159854305 G A g.159854305G>A ENST00000368099.4 c.818C>T p.Ser273Leu missense_variant benign B1 Missense Mutation PADI1 chr1 17567192 17567192 C G g.17567192C>G ENST00000375471.4 c.1695C>G p.Ile565Met missense_variant probably damaging B1 Missense Mutation SMG7 chr1 183516381 183516381 C G g.183516381C>G ENST00000507469.1 c.2748C>G p.Ser916Arg missense_variant damaging B1 Missense Mutation IGFN1 chr1 201178199 201178199 G C g.201178199G>C ENST00000335211.4 c.4178G>C p.Arg1393Thr missense_variant unknown B1 Missense Mutation EIF2D chr1 206767021 206767021 A C g.206767021A>C ENST00000271764.2 c.1631T>G p.Leu544Arg missense_variant benign B1 Missense Mutation TP53 chr17 7578475 7578475 G A g.7578475G>A ENST00000269305.4 c.455C>T p.Pro152Leu missense_variant probably damaging B1 Missense Mutation KCNK1 chr1 233807068 233807068 G A g.233807068G>A ENST00000366621.3 c.803G>A p.Cys268Tyr missense_variant probably damaging B1 Missense Mutation ASAP3 chr1 23759654 23759654 C T g.23759654C>T ENST00000336689.3 c.2239G>A p.Glu747Lys missense_variant benign B1 Missense Mutation CNR2 chr1 24202064 24202064 T C g.24202064T>C ENST00000374472.4 c.44A>G p.Asp15Gly missense_variant benign B1 Missense Mutation ST3GAL3 chr1 44202013 44202013 C T g.44202013C>T ENST00000262915.3 c.80C>T p.Ala27Val missense_variant probably damaging B1 Missense Mutation PTCH2 chr1 45292425 45292425 G A g.45292425G>A ENST00000372192.3 c.2711C>T p.Pro904Leu missense_variant probably damaging B1 Missense Mutation MAST2 chr1 46500798 46500798 C G g.46500798C>G ENST00000361297.2 c.4457C>G p.Ala1486Gly missense_variant possibly damaging B1 Missense Mutation NRD1 chr1 52303211 52303211 T C g.52303211T>C ENST00000354831.7 c.712A>G p.Thr238Ala missense_variant benign B1 Missense Mutation EVI5 chr1 93202045 93202045 G A g.93202045G>A ENST00000370331.1 c.191C>T p.Thr64Ile missense_variant possibly damaging B1 Missense Mutation CALHM1 chr10 105218334 105218334 C T g.105218334C>T ENST00000329905.5 c.175G>A p.Ala59Thr missense_variant benign B1 Missense Mutation NEURL1 chr10 105331513 105331513 C T g.105331513C>T ENST00000369780.4 c.583C>T p.Arg195Cys missense_variant probably damaging B1 Missense Mutation MALRD1 chr10 19493250 19493250 C G g.19493250C>G ENST00000454679.2 c.6C>G p.F2L missense_variant NA B1 Missense Mutation KIAA1217 chr10 24790355 24790355 A G g.24790355A>G ENST00000376454.3 c.1882A>G p.Thr628Ala missense_variant benign B1 Missense Mutation ADAMTS14 chr10 72511968 72511968 C A g.72511968C>A ENST00000373207.1 c.2714C>A p.Pro905Gln missense_variant benign B1 Missense Mutation MMP3 chr11 102710936 102710936 C G g.102710936C>G ENST00000299855.5 c.838G>C p.Val280Leu missense_variant benign B1 Missense Mutation ATM chr11 108139268 108139268 C T g.108139268C>T ENST00000278616.4 c.2770C>T p.Arg924Trp missense_variant probably damaging B1 Missense Mutation ZC3H12C chr11 110036239 110036239 A G g.110036239A>G ENST00000278590.3 c.2429A>G p.Gln810Arg missense_variant probably damaging B1 Missense Mutation RDX chr11 110118493 110118493 C T g.110118493C>T ENST00000343115.4 c.1025G>A p.Arg342His missense_variant probably damaging B1 Missense Mutation BCO2 chr11 112050124 112050124 G A g.112050124G>A ENST00000357685.5 c.212G>A p.Arg71Gln missense_variant benign B1 Missense Mutation OTOG chr11 17655771 17655771 G A g.17655771G>A ENST00000399397.1 c.7240G>A p.Gly2487Arg missense_variant NA B1 Missense Mutation EXT2 chr11 44129782 44129782 A C g.44129782A>C ENST00000343631.3 c.520A>C p.Met174Leu missense_variant benign B1 Missense Mutation MTCH2 chr11 47640410 47640410 C A g.47640410C>A ENST00000302503.3 c.887G>T p.Cys296Phe missense_variant benign B1 Missense Mutation INTS5 chr11 62414857 62414857 G A g.62414857G>A ENST00000330574.2 c.2695C>T p.His899Tyr missense_variant benign B1 Missense Mutation KCNK4 chr11 64067082 64067082 G A g.64067082G>A ENST00000394525.2 c.1066G>A p.Glu356Lys missense_variant possibly damaging B1 Missense Mutation RIN1 chr11 66100065 66100065 C G g.66100065C>G ENST00000311320.4 c.2034G>C p.Glu678Asp missense_variant benign B1 Missense Mutation CIT chr12 120196497 120196497 T C g.120196497T>C ENST00000261833.7 c.2303A>G p.Asn768Ser missense_variant probably damaging B1 Missense Mutation CAMKK2 chr12 121707377 121707377 T C g.121707377T>C ENST00000324774.5 c.527A>G p.Tyr176Cys missense_variant probably damaging B1 Missense Mutation SLCO1B3 chr12 21033890 21033890 G A g.21033890G>A ENST00000261196.2 c.1433G>A p.Gly478Glu missense_variant probably damaging B1 Missense Mutation ZNF641 chr12 48736961 48736961 C T g.48736961C>T ENST00000301042.3 c.1112G>A p.Cys371Tyr missense_variant benign B1 Missense Mutation SLC39A5 chr12 56629431 56629431 C T g.56629431C>T ENST00000266980.4 c.892C>T p.Leu298Phe missense_variant probably damaging B1 Missense Mutation SPRYD4 chr12 56863347 56863347 C T g.56863347C>T ENST00000338146.5 c.610C>T p.Pro204Ser missense_variant probably damaging B1 Missense Mutation DUSP6 chr12 89744658 89744658 G A g.89744658G>A ENST00000279488.7 c.545C>T p.Ser182Phe missense_variant probably damaging B1 Missense Mutation FLT1 chr13 28973215 28973215 C T g.28973215C>T ENST00000539099.1 c.1592G>A p.Ser531Asn missense_variant damaging B1 Missense Mutation MAB21L1 chr13 36049261 36049261 C G g.36049261C>G ENST00000379919.4 c.1015G>C p.Ala339Pro missense_variant probably damaging B1 Missense Mutation RBM26 chr13 79940211 79940211 G A g.79940211G>A ENST00000267229.7 c.1255C>T p.Pro419Ser missense_variant possibly damaging B1 Missense Mutation TMEM55B chr14 20928924 20928924 C A g.20928924C>A ENST00000250489.4 c.223G>T p.Asp75Tyr missense_variant probably damaging B1 Missense Mutation RNF31 chr14 24626822 24626822 G A g.24626822G>A ENST00000324103.6 c.2702G>A p.Cys901Tyr missense_variant probably damaging B1 Missense Mutation HECTD1 chr14 31602531 31602531 G A g.31602531G>A ENST00000399332.1 c.3835C>T p.Arg1279Cys missense_variant probably damaging B1 Missense Mutation TTC6 chr14 38218548 38218548 G T g.38218548G>T ENST00000553443.1 c.2768G>T p.R923L missense_variant NA B1 Missense Mutation FANCM chr14 45658474 45658474 C T g.45658474C>T ENST00000267430.5 c.5249C>T p.Pro1750Leu missense_variant benign B1 Missense Mutation POLE2 chr14 50118052 50118052 A C g.50118052A>C ENST00000216367.5 c.1255T>G p.Leu419Val missense_variant possibly damaging B1 Missense Mutation PCNXL4 chr14 60587953 60587953 A G g.60587953A>G ENST00000317623.4 c.1280A>G p.Gln661Arg missense_variant possibly damaging B1 Missense Mutation PLEKHG3 chr14 65198828 65198828 G A g.65198828G>A ENST00000247226.7 c.973G>A p.Glu325Lys missense_variant possibly damaging B1 Missense Mutation MEF2A chr15 100252894 100252894 T C g.100252894T>C ENST00000453228.2 c.1412T>C p.Ile471Thr missense_variant benign B1 Missense Mutation OR4M2 chr15 22368847 22368847 T C g.22368847T>C ENST00000332663.2 c.272T>C p.Ile91Thr missense_variant benign B1 Missense Mutation ZSCAN29 chr15 43653684 43653684 G A g.43653684G>A ENST00000396976.2 c.2146C>T p.Arg716Cys missense_variant probably damaging B1 Missense Mutation DUOX2 chr15 45394035 45394035 C T g.45394035C>T ENST00000389039.6 c.2807G>A p.Arg936His missense_variant probably damaging B1 Missense Mutation USP8 chr15 50785034 50785034 A G g.50785034A>G ENST00000307179.4 c.2371A>G p.Ile791Val missense_variant benign B1 Missense Mutation PEAK1 chr15 77473533 77473533 C T g.77473533C>T ENST00000312493.4 c.736G>A p.Glu246Lys missense_variant benign B1 Missense Mutation MEX3B chr15 82335986 82335986 C T g.82335986C>T ENST00000329713.4 c.1225G>A p.Val409Met missense_variant probably damaging B1 Missense Mutation RHBDF1 chr16 109456 109456 C T g.109456C>T ENST00000262316.6 c.1854G>A p.Met618Ile missense_variant benign B1 Missense Mutation GTF3C1 chr16 27544668 27544668 T C g.27544668T>C ENST00000356183.4 c.793A>G p.Met265Val missense_variant benign B1 Missense Mutation XPO6 chr16 28118968 28118968 A G g.28118968A>G ENST00000304658.5 c.2372T>C p.Val791Ala missense_variant possibly damaging B1 Missense Mutation ZNF263 chr16 3335101 3335101 C G g.3335101C>G ENST00000219069.5 c.430C>G p.Pro144Ala missense_variant benign B1 Missense Mutation MYLK3 chr16 46763558 46763558 G A g.46763558G>A ENST00000394809.4 c.1610C>T p.Thr537Ile missense_variant probably damaging B1 Missense Mutation TEX13C chrX 124455005 124455005 G A g.124455005G>A NM_001195272.1 c.1037G>A p.Gly346Asp missense_variant NA B1 Missense Mutation RHOT2 chr16 722293 722293 C T g.722293C>T ENST00000315082.4 c.1235C>T p.Thr412Met missense_variant probably damaging B1 Missense Mutation CTU2 chr16 88772960 88772960 T C g.88772960T>C ENST00000312060.5 c.22T>C p.Tyr8His missense_variant probably damaging B1 Missense Mutation KRT14 chr17 39739535 39739535 T G g.39739535T>G ENST00000167586.6 c.1226A>C p.Glu409Ala missense_variant probably damaging B1 Missense Mutation KIF18B chr17 43012265 43012265 C A g.43012265C>A ENST00000339151.4 c.510G>T p.K170N missense_variant benign B1 Missense Mutation AKAP1 chr17 55183574 55183574 C T g.55183574C>T ENST00000314126.3 c.749C>T p.Ser250Leu missense_variant benign B1 Missense Mutation RNF43 chr17 56435477 56435477 G A g.56435477G>A ENST00000407977.2 c.1660C>T p.Arg554Trp missense_variant probably damaging B1 Missense Mutation TANC2 chr17 61391944 61391944 C T g.61391944C>T ENST00000389520.4 c.1133C>T p.Ala378Val missense_variant probably damaging B1 Missense Mutation ST6GALNAC1 chr17 74625447 74625447 C T g.74625447C>T ENST00000156626.7 c.478G>A p.Asp160Asn missense_variant benign B1 Missense Mutation TMC6 chr17 76121281 76121281 A T g.76121281A>T ENST00000306591.7 c.494T>A p.Leu165His missense_variant probably damaging B1 Missense Mutation DNAH17 chr17 76482086 76482086 C T g.76482086C>T NM_173628.3 c.7231G>A p.Asp2406Asn missense_variant damaging B1 Missense Mutation USP43 chr17 9631823 9631823 G A g.9631823G>A ENST00000285199.7 c.2888G>A p.Ser963Asn missense_variant possibly damaging B1 Missense Mutation DCC chr18 50731621 50731621 G T g.50731621G>T ENST00000442544.2 c.1609G>T p.Val537Leu missense_variant benign B1 Missense Mutation SMARCA4 chr19 11141507 11141507 G C g.11141507G>C ENST00000344626.4 c.3484G>C p.Gly1162Arg missense_variant probably damaging B1 Missense Mutation LYL1 chr19 13210320 13210320 G T g.13210320G>T ENST00000264824.4 c.656C>A p.Pro219His missense_variant possibly damaging B1 Missense Mutation CEACAM5 chr19 42225042 42225042 T G g.42225042T>G ENST00000221992.6 c.1972T>G p.Ser658Ala missense_variant benign B1 Missense Mutation PVR chr19 45150539 45150539 G T g.45150539G>T ENST00000344956.4 c.124G>T p.Gly42Cys missense_variant probably damaging B1 Missense Mutation KLK13 chr19 51563117 51563117 C T g.51563117C>T ENST00000595793.1 c.473G>A p.Arg158Gln missense_variant benign B1 Missense Mutation KLK14 chr19 51582080 51582080 A G g.51582080A>G ENST00000156499.2 c.643T>C p.Ser215Pro missense_variant probably damaging B1 Missense Mutation ZNF432 chr19 52537650 52537650 A T g.52537650A>T ENST00000221315.5 c.1282T>A p.Ser428Thr missense_variant possibly damaging B1 Missense Mutation NLRP12 chr19 54304637 54304637 C T g.54304637C>T ENST00000324134.6 c.2600G>A p.Arg867His missense_variant benign B1 Missense Mutation SBK3 chr19 56056264 56056264 C T g.56056264C>T ENST00000420723.3 c.97G>A p.V33M missense_variant NA B1 Missense Mutation ZNF135 chr19 58578632 58578632 C G g.58578632C>G ENST00000313434.5 c.780C>G p.His260Gln missense_variant possibly damaging B1 Missense Mutation ZNF837 chr19 58880066 58880066 G A g.58880066G>A ENST00000427624.2 c.634C>T p.Arg212Trp missense_variant benign B1 Missense Mutation TGFBRAP1 chr2 105924736 105924736 G A g.105924736G>A ENST00000258449.1 c.23C>T p.Thr8Met missense_variant possibly damaging B1 Missense Mutation STEAP3 chr2 120005637 120005637 C T g.120005637C>T ENST00000354888.5 c.875C>T p.Pro292Leu missense_variant probably damaging B1 Missense Mutation CCDC173 chr2 170506935 170506935 A C g.170506935A>C ENST00000447353.1 c.1056T>G p.Ile352Met missense_variant possibly damaging B1 Missense Mutation TTN chr2 179411970 179411970 G T g.179411970G>T ENST00000591111.1 c.89359C>A p.Arg29787Ser missense_variant probably damaging B1 Missense Mutation TTN chr2 179425012 179425012 C T g.179425012C>T ENST00000591111.1 c.80924G>A p.Arg26975Gln missense_variant probably damaging B1 Missense Mutation ANKAR chr2 190575814 190575814 C T g.190575814C>T ENST00000313581.4 c.2159C>T p.Ala720Val missense_variant probably damaging B1 Missense Mutation FAM126B chr2 201873727 201873727 G A g.201873727G>A ENST00000418596.3 c.499C>T p.Pro167Ser missense_variant probably damaging B1 Missense Mutation IRS1 chr2 227663008 227663008 C G g.227663008C>G ENST00000305123.5 c.447G>C p.Leu149Phe missense_variant possibly damaging B1 Missense Mutation MAT2A chr2 85768209 85768209 A C g.85768209A>C ENST00000306434.3 c.95A>C p.Lys32Thr missense_variant probably damaging B1 Missense Mutation OR2W5 chr1 247655171 247655171 G T g.247655171G>T NM_001004698.2 c.742G>T p.Gly248Cys missense_variant benign B1 Missense Mutation RRBP1 chr20 17602348 17602348 G A g.17602348G>A ENST00000246043.4 c.3311C>T p.Ala1104Val missense_variant benign B1 Missense Mutation CST4 chr20 23666541 23666541 T A g.23666541T>A ENST00000217423.3 c.416A>T p.Gln139Leu missense_variant possibly damaging B1 Missense Mutation PTPRA chr20 3007824 3007824 T C g.3007824T>C ENST00000216877.6 c.1739T>C p.Val580Ala missense_variant probably damaging B1 Missense Mutation GGT7 chr20 33440253 33440253 C T g.33440253C>T ENST00000336431.5 c.1408G>A p.Ala470Thr missense_variant benign B1 Missense Mutation ADAM33 chr20 3649994 3649994 T G g.3649994T>G ENST00000356518.2 c.2356A>C p.Ser786Arg missense_variant probably damaging B1 Missense Mutation RPRD1B chr20 36686027 36686027 C A g.36686027C>A ENST00000373433.4 c.509C>A p.Pro170His missense_variant benign B1 Missense Mutation DIDO1 chr20 61525481 61525481 T G g.61525481T>G ENST00000266070.4 c.2638A>C p.Lys880Gln missense_variant benign B1 Missense Mutation LAMP5 chr20 9510435 9510435 C T g.9510435C>T ENST00000246070.2 c.811C>T p.Arg271Trp missense_variant probably damaging B1 Missense Mutation LTN1 chr21 30316768 30316768 A G g.30316768A>G ENST00000389194.2 c.4057T>C p.Trp1353Arg missense_variant probably damaging B1 Missense Mutation PRDM15 chr21 43299420 43299420 G A g.43299420G>A ENST00000269844.3 c.61C>T p.Arg21Trp missense_variant benign B1 Missense Mutation XKR3 chr22 17288641 17288641 C A g.17288641C>A ENST00000331428.5 c.323G>T p.Gly108Val missense_variant probably damaging B1 Missense Mutation NR2E3 chr15 72103931 72103931 G A g.72103931G>A NM_014249.3 c.227G>A p.R76Q missense_variant probably damaging B1 Missense Mutation KIAA1671 chr22 25435600 25435600 G A g.25435600G>A ENST00000358431.3 c.2503G>A p.Val835Met missense_variant benign B1 Missense Mutation OSBP2 chr22 31283491 31283491 C T g.31283491C>T ENST00000332585.6 c.1186C>T p.Arg396Cys missense_variant probably damaging B1 Missense Mutation BPIFC chr22 32831831 32831831 G T g.32831831G>T ENST00000300399.3 c.784C>A p.Pro262Thr missense_variant possibly damaging B1 Missense Mutation MAFF chr22 38610661 38610661 G A g.38610661G>A ENST00000338483.2 c.271G>A p.Asp91Asn missense_variant probably damaging B1 Missense Mutation CELSR1 chr22 46931858 46931858 C T g.46931858C>T ENST00000262738.3 c.1210G>A p.Glu404Lys missense_variant benign B1 Missense Mutation PLXND1 chr3 129291758 129291758 G A g.129291758G>A ENST00000324093.4 c.2864C>T p.Pro955Leu missense_variant benign B1 Missense Mutation RASA2 chr3 141295907 141295907 G T g.141295907G>T ENST00000286364.3 c.1549G>T p.Val517Leu missense_variant benign B1 Missense Mutation PLSCR2 chr3 146171805 146171805 G A g.146171805G>A ENST00000497985.1 c.686C>T p.Ala229Val missense_variant possibly damaging B1 Missense Mutation TTC21A chr3 39178409 39178409 G A g.39178409G>A ENST00000431162.2 c.3136G>A p.Glu1046Lys missense_variant possibly damaging B1 Missense Mutation XIRP1 chr3 39227656 39227656 C T g.39227656C>T ENST00000340369.3 c.3281G>A p.Arg1094Gln missense_variant benign B1 Missense Mutation CTNNB1 chr3 41266124 41266124 A G g.41266124A>G ENST00000349496.5 c.121A>G p.Thr41Ala missense_variant possibly damaging B1 Missense Mutation ELP6 chr3 47537584 47537584 T G g.47537584T>G ENST00000296149.4 c.776A>C p.Lys259Thr missense_variant benign B1 Missense Mutation UBA7 chr3 49843394 49843394 C T g.49843394C>T ENST00000333486.3 c.2845G>A p.Gly949Ser missense_variant possibly damaging B1 Missense Mutation MON1A chr3 49949430 49949430 C T g.49949430C>T ENST00000296473.3 c.433G>A p.Gly145Ser missense_variant possibly damaging B1 Missense Mutation CCNA2 chr4 122743655 122743655 T C g.122743655T>C ENST00000274026.5 c.360A>G p.Ile120Met missense_variant benign B1 Missense Mutation TLR2 chr4 154624961 154624961 A G g.154624961A>G ENST00000260010.6 c.902A>G p.Asp301Gly missense_variant benign B1 Missense Mutation RP11-171N4.2 chr4 157555997 157555997 G A g.157555997G>A ENST00000511399.1 c.124C>T p.R42W missense_variant NA B1 Missense Mutation N4BP2 chr4 40123828 40123828 C T g.40123828C>T ENST00000261435.6 c.4097C>T p.Ala1366Val missense_variant benign B1 Missense Mutation STK32B chr4 5458597 5458597 C A g.5458597C>A ENST00000282908.5 c.730C>A p.Arg244Ser missense_variant benign B1 Missense Mutation ZNF608 chr5 123980101 123980101 A G g.123980101A>G ENST00000306315.5 c.3959T>C p.Val1320Ala missense_variant benign B1 Missense Mutation FBN2 chr5 127624873 127624873 G A g.127624873G>A ENST00000262464.4 c.6583C>T p.Arg2195Cys missense_variant probably damaging B1 Missense Mutation FBN2 chr5 127670951 127670951 T A g.127670951T>A ENST00000262464.4 c.3884A>T p.Asp1295Val missense_variant probably damaging B1 Missense Mutation SLC22A5 chr5 131719909 131719909 T G g.131719909T>G ENST00000245407.3 c.568T>G p.Ser190Ala missense_variant probably damaging B1 Missense Mutation C5orf24 chr5 134190779 134190779 C G g.134190779C>G ENST00000338051.4 c.189C>G p.His63Gln missense_variant benign B1 Missense Mutation FAM13B chr5 137347508 137347508 T C g.137347508T>C ENST00000033079.3 c.497A>G p.Glu166Gly missense_variant probably damaging B1 Missense Mutation ANKHD1-EIF4EBP3 chr5 139903709 139903709 A G g.139903709A>G ENST00000297183.6 c.4376A>G p.Lys1459Arg missense_variant benign B1 Missense Mutation ADAM19 chr5 156957830 156957830 G C g.156957830G>C ENST00000257527.4 c.392C>G p.Thr131Ser missense_variant possibly damaging B1 Missense Mutation THG1L chr5 157162874 157162874 A C g.157162874A>C ENST00000231198.7 c.559A>C p.Asn187His missense_variant probably damaging B1 Missense Mutation DOCK2 chr5 169477345 169477345 A G g.169477345A>G ENST00000256935.8 c.4157A>G p.Glu1386Gly missense_variant benign B1 Missense Mutation NIPBL chr5 36986380 36986380 A G g.36986380A>G ENST00000282516.8 c.3098A>G p.Asn1033Ser missense_variant benign B1 Missense Mutation NIM1K chr5 43280518 43280518 C T g.43280518C>T ENST00000326035.2 c.998C>T p.P333L missense_variant benign B1 Missense Mutation ASCC3 chr6 101248359 101248359 C G g.101248359C>G ENST00000369162.2 c.944G>C p.Gly315Ala missense_variant benign B1 Missense Mutation OSTM1 chr6 108395690 108395690 C G g.108395690C>G ENST00000193322.3 c.166G>C p.Glu56Gln missense_variant benign B1 Missense Mutation CEP57L1 chr6 109480580 109480580 C T g.109480580C>T ENST00000359793.3 c.931C>T p.Pro311Ser missense_variant benign B1 Missense Mutation NHSL1 chr6 138752220 138752220 C G g.138752220C>G ENST00000427025.2 c.3274G>C p.Glu1092Gln missense_variant benign B1 Missense Mutation SYNE1 chr6 152708319 152708319 C T g.152708319C>T ENST00000265368.4 c.8375G>A p.Arg2792His missense_variant benign B1 Missense Mutation JARID2 chr6 15517407 15517407 G C g.15517407G>C ENST00000341776.2 c.3466G>C p.Glu1156Gln missense_variant probably damaging B1 Missense Mutation ARID1B chr6 157488272 157488272 A T g.157488272A>T ENST00000350026.5 c.2939A>T p.Gln980Leu missense_variant probably damaging B1 Missense Mutation IGF2R chr6 160455492 160455492 A G g.160455492A>G ENST00000356956.1 c.1253A>G p.Asp418Gly missense_variant possibly damaging B1 Missense Mutation UNC93A chr6 167717451 167717451 C T g.167717451C>T ENST00000230256.3 c.670C>T p.Pro224Ser missense_variant benign B1 Missense Mutation VARS chr6 31753500 31753500 G A g.31753500G>A ENST00000375663.3 c.1111C>T p.Arg371Cys missense_variant possibly damaging B1 Missense Mutation FANCE chr6 35423805 35423805 G A g.35423805G>A ENST00000229769.2 c.530G>A p.Arg177Lys missense_variant benign B1 Missense Mutation CPA2 chr7 129915025 129915025 G C g.129915025G>C ENST00000222481.4 c.523G>C p.Asp175His missense_variant possibly damaging B1 Missense Mutation WDR91 chr7 134879783 134879783 T C g.134879783T>C ENST00000344400.5 c.1298A>G p.Lys433Arg missense_variant benign B1 Missense Mutation OSBPL3 chr7 24911659 24911659 C G g.24911659C>G ENST00000313367.2 c.126G>C p.Arg42Ser missense_variant probably damaging B1 Missense Mutation CCDC129 chr7 31594120 31594120 G T g.31594120G>T ENST00000319386.3 c.195G>T p.Trp65Cys missense_variant probably damaging B1 Missense Mutation CDK13 chr7 40037248 40037248 G A g.40037248G>A ENST00000181839.4 c.2027G>A p.Ser676Asn missense_variant benign B1 Missense Mutation MRPS24 chr7 43906315 43906315 C T g.43906315C>T ENST00000317534.5 c.487G>A p.Val163Met missense_variant probably damaging B1 Missense Mutation MYO1G chr7 45009432 45009432 G A g.45009432G>A ENST00000258787.7 c.1375C>T p.Arg459Trp missense_variant possibly damaging B1 Missense Mutation VOPP1 chr7 55560082 55560082 C A g.55560082C>A ENST00000285279.5 c.221G>T p.Cys74Phe missense_variant probably damaging B1 Missense Mutation MTMR9 chr8 11152706 11152706 T G g.11152706T>G ENST00000221086.3 c.186T>G p.Phe62Leu missense_variant benign B1 Missense Mutation FAM91A1 chr8 124812082 124812082 C T g.124812082C>T ENST00000334705.7 c.1766C>T p.Thr589Met missense_variant benign B1 Missense Mutation SCRIB chr8 144885597 144885597 G C g.144885597G>C ENST00000320476.3 c.3559C>G p.Leu1187Val missense_variant probably damaging B1 Missense Mutation PLEC chr8 144998707 144998707 C T g.144998707C>T ENST00000322810.4 c.5801G>A p.Arg1934His missense_variant probably damaging B1 Missense Mutation SPATC1 chr8 145101649 145101649 C T g.145101649C>T ENST00000377470.3 c.1568C>T p.Ala523Val missense_variant possibly damaging B1 Missense Mutation CSGALNACT1 chr8 19297369 19297369 C G g.19297369C>G ENST00000311540.4 c.925G>C p.Val309Leu missense_variant probably damaging B1 Missense Mutation RPS20 chr8 56986324 56986324 C A g.56986324C>A ENST00000009589.3 c.107G>T p.Cys36Phe missense_variant possibly damaging B1 Missense Mutation PI15 chr8 75757624 75757624 G T g.75757624G>T ENST00000260113.2 c.533G>T p.Trp178Leu missense_variant probably damaging B1 Missense Mutation TRIM32 chr9 119461480 119461480 G A g.119461480G>A ENST00000373983.2 c.1459G>A p.Asp487Asn missense_variant probably damaging B1 Missense Mutation SPATA6L chr9 4661970 4661970 G C g.4661970G>C ENST00000381890.5 c.106C>G p.Gln36Glu missense_variant probably damaging B1 Missense Mutation CSTF2 chrX 100081657 100081657 T C g.100081657T>C ENST00000372972.2 c.737T>C p.Met246Thr missense_variant possibly damaging B1 Missense Mutation WDR44 chrX 117480539 117480539 G A g.117480539G>A ENST00000254029.3 c.73G>A p.Val25Met missense_variant benign B1 Missense Mutation LONRF3 chrX 118123608 118123608 G A g.118123608G>A ENST00000371628.3 c.1297G>A p.Gly433Arg missense_variant benign B1 Missense Mutation ZNF280C chrX 129373637 129373637 C G g.129373637C>G ENST00000370978.4 c.412G>C p.Asp138His missense_variant possibly damaging B1 Missense Mutation SLC25A14 chrX 129483271 129483271 A T g.129483271A>T ENST00000218197.5 c.364A>T p.I122F missense_variant benign B1 Missense Mutation SPANXC chrX 140336547 140336547 G T g.140336547G>T ENST00000358993.2 c.44C>A p.Pro15His missense_variant probably damaging B1 Missense Mutation F8 chrX 154133131 154133131 A T g.154133131A>T ENST00000360256.4 c.5541T>A p.Asp1847Glu missense_variant benign B1 Missense Mutation FGD1 chrX 54496615 54496615 G A g.54496615G>A ENST00000375135.3 c.935C>T p.Pro312Leu missense_variant benign B1 Missense Mutation TEX11 chrX 69748986 69748986 G C g.69748986G>C ENST00000344304.3 c.2782C>G p.Pro928Ala missense_variant benign HCC-1.2 Missense Mutation OR10K1 chr1 158435924 158435924 C A g.158435924C>A ENST00000289451.2 c.573C>A p.His191Gln missense_variant benign HCC-1.2 Missense Mutation KCNJ10 chr1 160012318 160012318 G A g.160012318G>A ENST00000368089.3 c.5C>T p.Thr2Met missense_variant benign HCC-1.2 Missense Mutation CD244 chr1 160811258 160811258 G A g.160811258G>A ENST00000368033.3 c.412C>T p.Arg138Cys missense_variant benign HCC-1.2 Missense Mutation SPEN chr1 16260264 16260264 C T g.16260264C>T ENST00000375759.3 c.7529C>T p.Ala2510Val missense_variant benign HCC-1.2 Missense Mutation IER5 chr1 181058232 181058232 C T g.181058232C>T ENST00000367577.4 c.194C>T p.Ala65Val missense_variant probably damaging HCC-1.2 Missense Mutation OBSCN chr1 228432266 228432266 A T g.228432266A>T ENST00000284548.11 c.3475A>T p.Ile1159Phe missense_variant possibly damaging HCC-1.2 Missense Mutation MEGF6 chr1 3422087 3422087 G C g.3422087G>C ENST00000356575.4 c.1952C>G p.Ser651Trp missense_variant probably damaging HCC-1.2 Missense Mutation ZFP69B chr1 40928278 40928278 C A g.40928278C>A ENST00000411995.2 c.622C>A p.Gln208Lys missense_variant benign HCC-1.2 Missense Mutation KLF17 chr1 44595221 44595221 T C g.44595221T>C ENST00000372299.3 c.278T>C p.Leu93Pro missense_variant possibly damaging HCC-1.2 Missense Mutation GLIS1 chr1 53972314 53972314 G A g.53972314G>A ENST00000312233.2 c.1841C>T p.Pro614Leu missense_variant probably damaging HCC-1.2 Missense Mutation GLIS1 chr1 53972315 53972315 G A g.53972315G>A ENST00000312233.2 c.1840C>T p.Pro614Ser missense_variant possibly damaging HCC-1.2 Missense Mutation TACSTD2 chr1 59042002 59042002 C T g.59042002C>T ENST00000371225.2 c.827G>A p.Gly276Asp missense_variant possibly damaging HCC-1.2 Missense Mutation GPAM chr10 113940284 113940284 G A g.113940284G>A ENST00000348367.4 c.172C>T p.Arg58Trp missense_variant probably damaging HCC-1.2 Missense Mutation ABLIM1 chr10 116417737 116417737 A G g.116417737A>G ENST00000277895.5 c.223T>C p.Cys75Arg missense_variant benign HCC-1.2 Missense Mutation ECHDC3 chr10 11797518 11797518 G A g.11797518G>A ENST00000379215.4 c.502G>A p.Asp168Asn missense_variant benign HCC-1.2 Missense Mutation WDR11 chr10 122630836 122630836 G C g.122630836G>C ENST00000263461.6 c.1449G>C p.M483I missense_variant benign HCC-1.2 Missense Mutation ADARB2 chr10 1262964 1262964 C T g.1262964C>T ENST00000381312.1 c.1609G>A p.Ala537Thr missense_variant benign HCC-1.2 Missense Mutation TCERG1L chr10 132944911 132944911 C A g.132944911C>A ENST00000368642.4 c.1047G>T p.Trp349Cys missense_variant probably damaging HCC-1.2 Missense Mutation ITGA8 chr10 15650284 15650284 G T g.15650284G>T ENST00000378076.3 c.1559C>A p.Ser520Tyr missense_variant possibly damaging HCC-1.2 Missense Mutation CUBN chr10 16982150 16982150 C T g.16982150C>T ENST00000377833.4 c.5429G>A p.Arg1810Gln missense_variant probably damaging HCC-1.2 Missense Mutation SVIL chr10 29821019 29821019 G A g.29821019G>A ENST00000355867.4 c.1921C>T p.Arg641Cys missense_variant probably damaging HCC-1.2 Missense Mutation ANKRD30A chr10 37454054 37454054 G T g.37454054G>T ENST00000361713.1 c.1867G>T p.Asp623Tyr missense_variant probably damaging HCC-1.2 Missense Mutation FBXO18 chr10 5948434 5948434 G C g.5948434G>C ENST00000362091.4 c.592G>C p.Gly198Arg missense_variant probably damaging HCC-1.2 Missense Mutation PLCE1 chr10 96064329 96064329 G A g.96064329G>A ENST00000260766.3 c.5549G>A p.Cys1850Tyr missense_variant probably damaging HCC-1.2 Missense Mutation TMPRSS5 chr11 113563965 113563965 C G g.113563965C>G ENST00000299882.5 c.792G>C p.Arg264Ser missense_variant probably damaging HCC-1.2 Missense Mutation APOA4 chr11 116693433 116693433 T C g.116693433T>C ENST00000357780.3 c.118A>G p.Asn40Asp missense_variant benign HCC-1.2 Missense Mutation SIDT2 chr11 117052674 117052674 G A g.117052674G>A ENST00000278951.7 c.457G>A p.Asp153Asn missense_variant benign HCC-1.2 Missense Mutation FOXR1 chr11 118851358 118851358 G C g.118851358G>C ENST00000317011.3 c.770G>C p.Gly257Ala missense_variant probably damaging HCC-1.2 Missense Mutation ZDHHC13 chr11 19164616 19164616 A C g.19164616A>C ENST00000446113.2 c.119A>C p.Glu40Ala missense_variant benign HCC-1.2 Missense Mutation ATHL1 chr11 292627 292627 G C g.292627G>C ENST00000409479.1 c.1108G>C p.Val370Leu missense_variant possibly damaging HCC-1.2 Missense Mutation OR8K3 chr11 56086086 56086086 G C g.56086086G>C ENST00000312711.1 c.304G>C p.Ala102Pro missense_variant possibly damaging HCC-1.2 Missense Mutation DLG2 chr11 83544809 83544809 G A g.83544809G>A ENST00000398309.2 c.1255C>T p.Pro419Ser missense_variant probably damaging HCC-1.2 Missense Mutation MED17 chr11 93517827 93517827 A C g.93517827A>C ENST00000251871.3 c.148A>C p.Ser50Arg missense_variant possibly damaging HCC-1.2 Missense Mutation PXMP2 chr12 133277885 133277885 C T g.133277885C>T ENST00000317479.3 c.449C>T p.Pro150Leu missense_variant possibly damaging HCC-1.2 Missense Mutation PDE3A chr12 20766456 20766456 C T g.20766456C>T ENST00000359062.3 c.1091C>T p.Pro364Leu missense_variant probably damaging HCC-1.2 Missense Mutation AC005841.1 chr12 2964537 2964537 A T g.2964537A>T ENST00000382678.3 c.169T>A p.W57R missense_variant NA HCC-1.2 Missense Mutation NABP2 chr12 56618654 56618654 C G g.56618654C>G ENST00000267023.4 c.14C>G p.Thr5Ser missense_variant possibly damaging HCC-1.2 Missense Mutation ANO2 chr12 5724358 5724358 T A g.5724358T>A ENST00000356134.5 c.1925A>T p.K642I missense_variant probably damaging HCC-1.2 Missense Mutation R3HDM2 chr12 57648693 57648693 T A g.57648693T>A ENST00000347140.3 c.2794A>T p.Ile932Phe missense_variant possibly damaging HCC-1.2 Missense Mutation B4GALNT3 chr12 662516 662516 G T g.662516G>T ENST00000266383.5 c.1427G>T p.Arg476Leu missense_variant probably damaging HCC-1.2 Missense Mutation FGD6 chr12 95604471 95604471 C A g.95604471C>A ENST00000343958.4 c.589G>T p.Ala197Ser missense_variant benign HCC-1.2 Missense Mutation MTMR6 chr13 25835841 25835841 T A g.25835841T>A ENST00000381801.5 c.691A>T p.Asn231Tyr missense_variant benign HCC-1.2 Missense Mutation POSTN chr13 38158195 38158195 G A g.38158195G>A ENST00000379742.4 c.1154C>T p.Thr385Met missense_variant probably damaging HCC-1.2 Missense Mutation ZBTB42 chr14 105268093 105268093 G A g.105268093G>A ENST00000342537.7 c.559G>A p.Ala187Thr missense_variant probably damaging HCC-1.2 Missense Mutation TOX4 chr14 21957537 21957537 A C g.21957537A>C ENST00000262709.3 c.785A>C p.Asp262Ala missense_variant possibly damaging HCC-1.2 Missense Mutation SLC22A17 chr14 23821399 23821399 G T g.23821399G>T ENST00000206544.8 c.25C>A p.Leu9Met missense_variant probably damaging HCC-1.2 Missense Mutation LRRC16B chr14 24534244 24534244 G A g.24534244G>A ENST00000342740.5 c.3158G>A p.Arg1053Gln missense_variant probably damaging HCC-1.2 Missense Mutation NYNRIN chr14 24884470 24884470 C T g.24884470C>T ENST00000382554.3 c.3515C>T p.Thr1172Met missense_variant probably damaging HCC-1.2 Missense Mutation HECTD1 chr14 31575926 31575926 C G g.31575926C>G ENST00000399332.1 c.7152G>C p.Lys2384Asn missense_variant benign HCC-1.2 Missense Mutation SYNE2 chr14 64634296 64634296 C T g.64634296C>T ENST00000344113.4 c.16844C>T p.Ala5615Val missense_variant benign HCC-1.2 Missense Mutation AKAP5 chr14 64935782 64935782 C A g.64935782C>A ENST00000320636.5 c.670C>A p.Gln224Lys missense_variant possibly damaging HCC-1.2 Missense Mutation RAD51B chr14 68353886 68353886 T G g.68353886T>G ENST00000390683.3 c.721T>G p.Ser241Ala missense_variant benign HCC-1.2 Missense Mutation BTBD7 chr14 93712209 93712209 C T g.93712209C>T ENST00000334746.5 c.2545G>A p.Ala849Thr missense_variant benign HCC-1.2 Missense Mutation GABRB3 chr15 26825574 26825574 A G g.26825574A>G ENST00000299267.4 c.574T>C p.Tyr192His missense_variant benign HCC-1.2 Missense Mutation RYR3 chr15 33916147 33916147 G A g.33916147G>A ENST00000389232.4 c.2497G>A p.Gly833Ser missense_variant benign HCC-1.2 Missense Mutation TTBK2 chr15 43045273 43045273 C T g.43045273C>T ENST00000267890.6 c.2171G>A p.Gly724Glu missense_variant possibly damaging HCC-1.2 Missense Mutation TP53 chr17 7577548 7577548 C T g.7577548C>T ENST00000269305.4 c.733G>A p.Gly245Ser missense_variant probably damaging HCC-1.2 Missense Mutation USP8 chr15 50789350 50789350 A G g.50789350A>G ENST00000307179.4 c.2960A>G p.His987Arg missense_variant benign HCC-1.2 Missense Mutation MYO5C chr15 52529800 52529800 G A g.52529800G>A ENST00000261839.7 c.2747C>T p.Ala916Val missense_variant benign HCC-1.2 Missense Mutation VPS13C chr15 62201251 62201251 C T g.62201251C>T ENST00000261517.5 c.8918G>A p.Gly2973Glu missense_variant probably damaging HCC-1.2 Missense Mutation HCN4 chr15 73615055 73615055 C T g.73615055C>T ENST00000261917.3 c.3379G>A p.Gly1127Arg missense_variant possibly damaging HCC-1.2 Missense Mutation HAPLN3 chr15 89424719 89424719 A T g.89424719A>T ENST00000359595.3 c.362T>A p.Leu121Gln missense_variant probably damaging HCC-1.2 Missense Mutation PARN chr16 14687168 14687168 G A g.14687168G>A ENST00000437198.2 c.908C>T p.Pro303Leu missense_variant probably damaging HCC-1.2 Missense Mutation NUBP2 chr16 1838168 1838168 C T g.1838168C>T ENST00000565134.1 c.716C>T p.A239V missense_variant NA HCC-1.2 Missense Mutation UQCRC2 chr16 21973827 21973827 C T g.21973827C>T ENST00000268379.4 c.379C>T p.Arg127Trp missense_variant possibly damaging HCC-1.2 Missense Mutation NDUFAB1 chr16 23593619 23593619 C G g.23593619C>G ENST00000007516.3 c.457G>C p.Asp153His missense_variant probably damaging HCC-1.2 Missense Mutation SRRM2 chr16 2811920 2811920 A G g.2811920A>G ENST00000301740.8 c.1391A>G p.His464Arg missense_variant benign HCC-1.2 Missense Mutation ZNF646 chr16 31088249 31088249 C G g.31088249C>G ENST00000300850.5 c.604C>G p.Pro202Ala missense_variant benign HCC-1.2 Missense Mutation TRAP1 chr16 3740896 3740896 C T g.3740896C>T ENST00000246957.5 c.179G>A p.Ser60Asn missense_variant possibly damaging HCC-1.2 Missense Mutation CHD9 chr16 53261484 53261484 A G g.53261484A>G ENST00000398510.3 c.2137A>G p.Thr713Ala missense_variant benign HCC-1.2 Missense Mutation SPG7 chr16 89620922 89620922 A C g.89620922A>C ENST00000268704.2 c.2132A>C p.Tyr711Ser missense_variant possibly damaging HCC-1.2 Missense Mutation MNT chr17 2290856 2290856 A G g.2290856A>G ENST00000174618.4 c.1088T>C p.Leu363Pro missense_variant possibly damaging HCC-1.2 Missense Mutation SARM1 chr17 26699298 26699298 G C g.26699298G>C ENST00000457710.3 c.145G>C p.G49R missense_variant NA HCC-1.2 Missense Mutation FNDC8 chr17 33454155 33454155 G A g.33454155G>A ENST00000158009.5 c.304G>A p.Val102Met missense_variant probably damaging HCC-1.2 Missense Mutation GRB7 chr17 37900343 37900343 C A g.37900343C>A ENST00000309156.4 c.684C>A p.Ser228Arg missense_variant probably damaging HCC-1.2 Missense Mutation KRT37 chr17 39577188 39577188 C A g.39577188C>A ENST00000225550.3 c.1292G>T p.Ser431Ile missense_variant possibly damaging HCC-1.2 Missense Mutation PTGES3L chr17 41131678 41131678 T G g.41131678T>G ENST00000453594.1 c.140A>C p.Gln47Pro (Splice) missense_variant,splice_region_variant probably damaging HCC-1.2 Missense Mutation CHAD chr17 48542718 48542718 C A g.48542718C>A ENST00000258969.4 c.1021G>T p.Asp341Tyr missense_variant benign HCC-1.2 Missense Mutation BZRAP1 chr17 56386231 56386231 C T g.56386231C>T ENST00000343736.4 c.4402G>A p.Gly1468Ser missense_variant probably damaging HCC-1.2 Missense Mutation KCNH6 chr17 61622986 61622986 A G g.61622986A>G ENST00000583023.1 c.2708A>G p.Asp903Gly missense_variant benign HCC-1.2 Missense Mutation RGS9 chr17 63206770 63206770 C T g.63206770C>T NM_001165933.1 c.1445C>T p.Pro482Leu missense_variant damaging HCC-1.2 Missense Mutation RGS9 chr17 63206772 63206772 C A g.63206772C>A NM_001165933.1 c.1447C>A p.Pro483Thr missense_variant benign HCC-1.2 Missense Mutation PITPNC1 chr17 65665658 65665658 G A g.65665658G>A ENST00000299954.9 c.497G>A p.Arg166Gln missense_variant probably damaging HCC-1.2 Missense Mutation SLC16A6 chr17 66270179 66270179 C T g.66270179C>T ENST00000327268.4 c.265G>A p.Gly89Arg missense_variant probably damaging HCC-1.2 Missense Mutation TMEM104 chr17 72791746 72791746 G A g.72791746G>A ENST00000335464.5 c.611G>A p.Arg204Gln missense_variant probably damaging HCC-1.2 Missense Mutation EVPL chr17 74003862 74003862 G T g.74003862G>T ENST00000301607.3 c.5424C>A p.Ser1808Arg missense_variant benign HCC-1.2 Missense Mutation SEPT9 chr17 75483595 75483595 C T g.75483595C>T ENST00000427177.1 c.1003C>T p.Arg335Cys missense_variant probably damaging HCC-1.2 Missense Mutation TNRC6C chr17 76082938 76082938 C T g.76082938C>T ENST00000301624.4 c.3566C>T p.Ala1189Val missense_variant probably damaging HCC-1.2 Missense Mutation SOCS3 chr17 76355122 76355122 T A g.76355122T>A ENST00000330871.2 c.55A>T p.Ser19Cys missense_variant probably damaging HCC-1.2 Missense Mutation CBX4 chr17 77808119 77808119 C A g.77808119C>A ENST00000269397.4 c.1322G>T p.Gly441Val missense_variant possibly damaging HCC-1.2 Missense Mutation SLC38A10 chr17 79219813 79219813 T C g.79219813T>C ENST00000374759.3 c.2903A>G p.Glu968Gly missense_variant benign HCC-1.2 Missense Mutation FSCN2 chr17 79495612 79495612 G C g.79495612G>C ENST00000334850.7 c.55G>C p.Asp19His missense_variant benign HCC-1.2 Missense Mutation FSCN2 chr17 79495766 79495766 C T g.79495766C>T ENST00000334850.7 c.209C>T p.Ser70Leu missense_variant possibly damaging HCC-1.2 Missense Mutation RANGRF chr17 8192670 8192670 G A g.8192670G>A ENST00000226105.6 c.289G>A p.Gly97Ser missense_variant benign HCC-1.2 Missense Mutation MPPE1 chr18 11886734 11886734 G A g.11886734G>A ENST00000496196.1 c.722C>T p.Thr241Met missense_variant,NMD_transcript_variant benign HCC-1.2 Missense Mutation MAPRE2 chr18 32650242 32650242 A C g.32650242A>C ENST00000300249.5 c.206A>C p.Asp69Ala missense_variant possibly damaging HCC-1.2 Missense Mutation ALPK2 chr18 56247022 56247022 T C g.56247022T>C ENST00000361673.3 c.986A>G p.Tyr329Cys missense_variant probably damaging HCC-1.2 Missense Mutation JAK3 chr19 17951044 17951044 C A g.17951044C>A ENST00000458235.1 c.1249G>T p.Val417Phe missense_variant possibly damaging HCC-1.2 Missense Mutation MAP3K10 chr19 40712040 40712040 G A g.40712040G>A ENST00000253055.3 c.1411G>A p.Gly471Ser missense_variant benign HCC-1.2 Missense Mutation ZNF235 chr19 44793278 44793278 A G g.44793278A>G ENST00000291182.4 c.310T>C p.Ser104Pro missense_variant benign HCC-1.2 Missense Mutation PPP1R13L chr19 45900039 45900039 G A g.45900039G>A ENST00000360957.5 c.476C>T p.Pro159Leu missense_variant probably damaging HCC-1.2 Missense Mutation QPCTL chr19 46202131 46202131 C T g.46202131C>T ENST00000012049.5 c.859C>T p.Arg287Cys missense_variant probably damaging HCC-1.2 Missense Mutation GRIN2D chr19 48946707 48946707 C G g.48946707C>G ENST00000263269.3 c.3524C>G p.Pro1175Arg missense_variant possibly damaging HCC-1.2 Missense Mutation ZNF473 chr19 50549570 50549570 C G g.50549570C>G ENST00000270617.3 c.1870C>G p.Gln624Glu missense_variant benign HCC-1.2 Missense Mutation LRRC4B chr19 51051911 51051911 G A g.51051911G>A ENST00000389201.3 c.185C>T p.Ser62Phe missense_variant benign HCC-1.2 Missense Mutation KIR3DL2 chr19 55378013 55378013 G T g.55378013G>T ENST00000326321.3 c.1195G>T p.Ala399Ser missense_variant possibly damaging HCC-1.2 Missense Mutation C3 chr19 6679451 6679451 G A g.6679451G>A ENST00000245907.6 c.4513C>T p.Leu1505Phe missense_variant benign HCC-1.2 Missense Mutation E2F6 chr2 11597319 11597319 T C g.11597319T>C ENST00000362009.4 c.149A>G p.Tyr50Cys missense_variant probably damaging HCC-1.2 Missense Mutation SNTG2 chr2 1241694 1241694 G A g.1241694G>A ENST00000308624.5 c.754G>A p.Val252Ile missense_variant benign HCC-1.2 Missense Mutation GPR17 chr2 128407623 128407623 C T g.128407623C>T ENST00000272644.3 c.37C>T p.Pro13Ser missense_variant benign HCC-1.2 Missense Mutation TTC30A chr2 178481813 178481813 T G g.178481813T>G ENST00000355689.5 c.1617A>C p.Lys539Asn missense_variant benign HCC-1.2 Missense Mutation MYT1L chr2 1983529 1983529 C G g.1983529C>G ENST00000399161.2 c.21G>C p.Glu7Asp missense_variant probably damaging HCC-1.2 Missense Mutation XDH chr2 31588936 31588936 T A g.31588936T>A ENST00000379416.3 c.2362A>T p.Ile788Phe missense_variant possibly damaging HCC-1.2 Missense Mutation ABCG5 chr2 44052039 44052039 A G g.44052039A>G ENST00000260645.1 c.893T>C p.Phe298Ser missense_variant probably damaging HCC-1.2 Missense Mutation FOXN2 chr2 48586274 48586274 C T g.48586274C>T ENST00000340553.3 c.626C>T p.Ala209Val missense_variant benign HCC-1.2 Missense Mutation CLHC1 chr2 55403086 55403086 C T g.55403086C>T ENST00000401408.1 c.1601G>A p.Cys534Tyr missense_variant possibly damaging HCC-1.2 Missense Mutation SERTAD2 chr2 64863362 64863362 C T g.64863362C>T ENST00000313349.3 c.644G>A p.Arg215His missense_variant probably damaging HCC-1.2 Missense Mutation ALMS1 chr2 73718231 73718231 A G g.73718231A>G ENST00000264448.6 c.9142A>G p.I3048V missense_variant probably damaging HCC-1.2 Missense Mutation KANSL3 chr2 97270594 97270594 C A g.97270594C>A ENST00000431828.1 c.1940G>T p.Gly647Val missense_variant probably damaging HCC-1.2 Missense Mutation CSRP2BP chr20 18167948 18167948 G A g.18167948G>A ENST00000435364.3 c.2194G>A p.Val732Ile missense_variant benign HCC-1.2 Missense Mutation C20orf141 chr20 2795865 2795865 G A g.2795865G>A ENST00000380589.4 c.35G>A p.Arg12His missense_variant benign HCC-1.2 Missense Mutation DLGAP4 chr20 35128986 35128986 G C g.35128986G>C ENST00000339266.5 c.2484G>C p.Glu828Asp missense_variant possibly damaging HCC-1.2 Missense Mutation KIAA1755 chr20 36869794 36869794 C T g.36869794C>T ENST00000279024.4 c.739G>A p.Gly247Arg missense_variant probably damaging HCC-1.2 Missense Mutation SGK2 chr20 42196593 42196593 A G g.42196593A>G ENST00000341458.4 c.362A>G p.Tyr121Cys missense_variant probably damaging HCC-1.2 Missense Mutation LIPI chr21 15537668 15537668 C A g.15537668C>A ENST00000344577.2 c.840G>T p.Leu280Phe missense_variant probably damaging HCC-1.2 Missense Mutation ITGB2 chr21 46323304 46323304 C T g.46323304C>T ENST00000302347.5 c.475G>A p.Glu159Lys missense_variant benign HCC-1.2 Missense Mutation PI4KA chr22 21104264 21104264 C T g.21104264C>T ENST00000572273.1 c.2998G>A p.Ala1000Thr missense_variant possibly damaging HCC-1.2 Missense Mutation TOP3B chr22 22324598 22324598 C T g.22324598C>T ENST00000357179.5 c.565G>A p.Gly189Ser missense_variant probably damaging HCC-1.2 Missense Mutation AP1B1 chr22 29735056 29735056 C T g.29735056C>T ENST00000357586.2 c.2086G>A p.Gly696Ser missense_variant benign HCC-1.2 Missense Mutation ISX chr22 35480484 35480484 G C g.35480484G>C ENST00000308700.6 c.490G>C p.Asp164His missense_variant probably damaging HCC-1.2 Missense Mutation MOV10L1 chr22 50598168 50598168 T C g.50598168T>C ENST00000262794.5 c.3278T>C p.Val1093Ala missense_variant probably damaging HCC-1.2 Missense Mutation NCAPH2 chr22 50961458 50961458 C T g.50961458C>T ENST00000395701.3 c.1540C>T p.Pro514Ser missense_variant probably damaging HCC-1.2 Missense Mutation RP11-553A10.1 chr3 110612185 110612185 G T g.110612185G>T ENST00000383686.2 c.25C>A p.L9I missense_variant probably damaging HCC-1.2 Missense Mutation CASR chr3 121973186 121973186 T A g.121973186T>A ENST00000296154.5 c.150T>A p.Asp50Glu missense_variant possibly damaging HCC-1.2 Missense Mutation HEG1 chr3 124731857 124731857 T A g.124731857T>A ENST00000311127.4 c.2566A>T p.Thr856Ser missense_variant benign HCC-1.2 Missense Mutation EFCAB12 chr3 129134207 129134207 A C g.129134207A>C ENST00000326085.3 c.719T>G p.Ile240Arg missense_variant probably damaging HCC-1.2 Missense Mutation FBLN2 chr3 13611971 13611971 C T g.13611971C>T ENST00000295760.7 c.116C>T p.Pro39Leu missense_variant probably damaging HCC-1.2 Missense Mutation TM4SF1 chr3 149095310 149095310 A T g.149095310A>T ENST00000305366.3 c.25T>A p.Cys9Ser missense_variant benign HCC-1.2 Missense Mutation MME chr3 154859862 154859862 A G g.154859862A>G ENST00000360490.2 c.1040A>G p.Tyr347Cys missense_variant possibly damaging HCC-1.2 Missense Mutation LRRIQ4 chr3 169548373 169548373 C T g.169548373C>T ENST00000340806.6 c.1288C>T p.His430Tyr missense_variant probably damaging HCC-1.2 Missense Mutation DGKG chr3 185905997 185905997 C T g.185905997C>T ENST00000265022.3 c.2089G>A p.Val697Ile missense_variant benign HCC-1.2 Missense Mutation SCN10A chr3 38753882 38753882 C T g.38753882C>T ENST00000449082.2 c.3859G>A p.Val1287Ile missense_variant probably damaging HCC-1.2 Missense Mutation CCR1 chr3 46245282 46245282 G C g.46245282G>C ENST00000296140.3 c.523C>G p.Gln175Glu missense_variant benign HCC-1.2 Missense Mutation WDR6 chr3 49044896 49044896 G A g.49044896G>A ENST00000395474.3 c.122G>A p.Arg41Gln missense_variant probably damaging HCC-1.2 Missense Mutation WDR6 chr3 49051722 49051722 G A g.49051722G>A ENST00000395474.3 c.2752G>A p.Val918Ile missense_variant probably damaging HCC-1.2 Missense Mutation LAMB2 chr3 49168245 49168245 C T g.49168245C>T ENST00000305544.4 c.964G>A p.Glu322Lys missense_variant probably damaging HCC-1.2 Missense Mutation ITIH1 chr3 52813504 52813504 G A g.52813504G>A ENST00000273283.2 c.467G>A p.Ser156Asn missense_variant probably damaging HCC-1.2 Missense Mutation FLNB chr3 58156440 58156440 G T g.58156440G>T ENST00000295956.4 c.7760G>T p.Trp2587Leu missense_variant probably damaging HCC-1.2 Missense Mutation DCBLD2 chr3 98530317 98530317 G T g.98530317G>T ENST00000326840.6 c.1445C>A p.Ala482Asp missense_variant possibly damaging HCC-1.2 Missense Mutation DCBLD2 chr3 98530329 98530329 G A g.98530329G>A ENST00000326840.6 c.1433C>T p.Pro478Leu missense_variant benign HCC-1.2 Missense Mutation ADH4 chr4 100048412 100048412 A C g.100048412A>C ENST00000265512.7 c.927T>G p.Ile309Met missense_variant benign HCC-1.2 Missense Mutation CEACAM20 chr19 45024535 45024535 T C g.45024535T>C NM_001102597.1 c.1003A>G p.S335G missense_variant probably damaging HCC-1.2 Missense Mutation ASIC5 chr4 156784618 156784618 G A g.156784618G>A ENST00000537611.2 c.329C>T p.Thr110Ile missense_variant probably damaging HCC-1.2 Missense Mutation GLRB chr4 158041785 158041785 A C g.158041785A>C ENST00000264428.4 c.200A>C p.Tyr67Ser missense_variant probably damaging HCC-1.2 Missense Mutation NEK1 chr4 170322949 170322949 C T g.170322949C>T ENST00000439128.2 c.3353G>A p.Arg1118Lys missense_variant benign HCC-1.2 Missense Mutation TENM3 chr4 183721366 183721366 G T g.183721366G>T ENST00000406950.2 c.7962G>T p.Glu2654Asp missense_variant possibly damaging HCC-1.2 Missense Mutation WWC2 chr4 184129249 184129249 C A g.184129249C>A ENST00000403733.3 c.385C>A p.Leu129Met missense_variant probably damaging HCC-1.2 Missense Mutation NFXL1 chr4 47900854 47900854 T C g.47900854T>C ENST00000329043.3 c.1009A>G p.Arg337Gly missense_variant possibly damaging HCC-1.2 Missense Mutation THAP9 chr4 83839352 83839352 A G g.83839352A>G ENST00000302236.5 c.1987A>G p.Ile663Val missense_variant benign HCC-1.2 Missense Mutation UNC5C chr4 96127786 96127786 T C g.96127786T>C ENST00000453304.1 c.1895A>G p.Gln632Arg missense_variant benign HCC-1.2 Missense Mutation MCC chr5 112458515 112458515 T A g.112458515T>A ENST00000302475.4 c.323A>T p.Asp108Val missense_variant probably damaging HCC-1.2 Missense Mutation SEMA6A chr5 115782730 115782730 G A g.115782730G>A ENST00000343348.6 c.2672C>T p.Pro891Leu missense_variant probably damaging HCC-1.2 Missense Mutation RELL2 chr5 141019492 141019492 G A g.141019492G>A ENST00000297164.3 c.509G>A p.Arg170Gln missense_variant probably damaging HCC-1.2 Missense Mutation FCHSD1 chr5 141029463 141029463 A G g.141029463A>G ENST00000435817.2 c.224T>C p.Met75Thr missense_variant benign HCC-1.2 Missense Mutation NMUR2 chr5 151784395 151784395 C A g.151784395C>A ENST00000255262.3 c.280G>T p.Val94Phe missense_variant probably damaging HCC-1.2 Missense Mutation VCAN chr5 82816672 82816672 T A g.82816672T>A ENST00000265077.3 c.2547T>A p.Asp849Glu missense_variant possibly damaging HCC-1.2 Missense Mutation ANKRD32 chr5 94014523 94014523 A G g.94014523A>G ENST00000265140.5 c.1838A>G p.His613Arg missense_variant benign HCC-1.2 Missense Mutation PPIL6 chr6 109761778 109761778 G C g.109761778G>C ENST00000424445.2 c.16C>G p.Pro6Ala missense_variant possibly damaging HCC-1.2 Missense Mutation HIVEP1 chr6 12124263 12124263 G A g.12124263G>A ENST00000379388.2 c.4235G>A p.Arg1412Gln missense_variant benign HCC-1.2 Missense Mutation HECA chr6 139495603 139495603 G A g.139495603G>A ENST00000367658.2 c.1394G>A p.Arg465Gln missense_variant probably damaging HCC-1.2 Missense Mutation ARID1B chr6 157100477 157100477 G T g.157100477G>T ENST00000346085.5 c.1414G>T p.Gly472Cys missense_variant benign HCC-1.2 Missense Mutation HFE chr6 26087718 26087718 C T g.26087718C>T ENST00000309234.6 c.50C>T p.Thr17Ile missense_variant possibly damaging HCC-1.2 Missense Mutation IP6K3 chr6 33695898 33695898 G A g.33695898G>A ENST00000293756.4 c.379C>T p.Pro127Ser missense_variant benign HCC-1.2 Missense Mutation CLPSL1 chr6 35755773 35755773 A G g.35755773A>G ENST00000373861.5 c.352A>G p.Lys118Glu missense_variant benign HCC-1.2 Missense Mutation MOCS1 chr6 39895160 39895160 T C g.39895160T>C ENST00000308559.7 c.158A>G p.His53Arg missense_variant benign HCC-1.2 Missense Mutation SLC35B3 chr6 8413853 8413853 G A g.8413853G>A ENST00000379660.4 c.1135C>T p.Pro379Ser missense_variant benign HCC-1.2 Missense Mutation ZNF292 chr6 87964653 87964653 T G g.87964653T>G ENST00000369577.3 c.1306T>G p.Leu436Val missense_variant probably damaging HCC-1.2 Missense Mutation MDN1 chr6 90428665 90428665 G C g.90428665G>C ENST00000369393.3 c.6142C>G p.Pro2048Ala missense_variant benign HCC-1.2 Missense Mutation RNF133 chr7 122338747 122338747 C A g.122338747C>A ENST00000340112.2 c.226G>T p.Val76Leu missense_variant benign HCC-1.2 Missense Mutation UBN2 chr7 138936723 138936723 C T g.138936723C>T ENST00000473989.3 c.583C>T p.Arg195Trp missense_variant probably damaging HCC-1.2 Missense Mutation TAS2R5 chr7 141490616 141490616 C A g.141490616C>A ENST00000247883.4 c.455C>A p.Pro152His missense_variant possibly damaging HCC-1.2 Missense Mutation STEAP1B chr7 22533378 22533378 T G g.22533378T>G ENST00000406890.2 c.105A>C p.Glu35Asp missense_variant benign HCC-1.2 Missense Mutation CREB5 chr7 28858886 28858886 C T g.28858886C>T ENST00000357727.2 c.1517C>T p.Pro506Leu missense_variant probably damaging HCC-1.2 Missense Mutation POU6F2 chr7 39247048 39247048 C A g.39247048C>A ENST00000403058.1 c.340C>A p.Pro114Thr missense_variant benign HCC-1.2 Missense Mutation CCM2 chr7 45077981 45077981 G A g.45077981G>A ENST00000258781.6 c.160G>A p.Glu54Lys missense_variant probably damaging HCC-1.2 Missense Mutation RFC2 chr7 73668671 73668671 C T g.73668671C>T ENST00000055077.3 c.43G>A p.Ala15Thr missense_variant benign HCC-1.2 Missense Mutation NXPH1 chr7 8790998 8790998 G A g.8790998G>A ENST00000405863.1 c.415G>A p.Gly139Arg missense_variant probably damaging HCC-1.2 Missense Mutation RGS22 chr8 101059715 101059715 G A g.101059715G>A ENST00000360863.6 c.1799C>T p.Ser600Phe missense_variant possibly damaging HCC-1.2 Missense Mutation ZFPM2 chr8 106813377 106813377 C G g.106813377C>G ENST00000407775.2 c.1067C>G p.Ser356Cys missense_variant probably damaging HCC-1.2 Missense Mutation PKHD1L1 chr8 110402707 110402707 G A g.110402707G>A ENST00000378402.5 c.724G>A p.Asp242Asn missense_variant probably damaging HCC-1.2 Missense Mutation EXOSC4 chr8 145133662 145133662 G A g.145133662G>A ENST00000316052.5 c.31G>A p.Gly11Ser missense_variant probably damaging HCC-1.2 Missense Mutation MYOM2 chr8 2007280 2007280 A T g.2007280A>T ENST00000262113.4 c.567A>T p.Lys189Asn missense_variant probably damaging HCC-1.2 Missense Mutation PKN3 chr9 131469285 131469285 C T g.131469285C>T ENST00000291906.4 c.634C>T p.Arg212Cys missense_variant probably damaging HCC-1.2 Missense Mutation MAMDC4 chr9 139747842 139747842 G A g.139747842G>A ENST00000317446.2 c.260G>A p.Arg87Gln missense_variant probably damaging HCC-1.2 Missense Mutation CER1 chr9 14720275 14720275 C T g.14720275C>T ENST00000380911.3 c.617G>A p.Cys206Tyr missense_variant probably damaging HCC-1.2 Missense Mutation CHRDL1 chrX 110005943 110005943 C T g.110005943C>T ENST00000372045.1 c.169G>A p.Val57Met missense_variant probably damaging HCC-1.2 Missense Mutation MSL3 chrX 11780318 11780318 G T g.11780318G>T ENST00000312196.4 c.535G>T p.Val179Phe missense_variant probably damaging HCC-1.2 Missense Mutation GPR112 chrX 135430355 135430355 T C g.135430355T>C ENST00000370652.1 c.4490T>C p.Met1497Thr missense_variant benign HCC-1.2 Missense Mutation CNGA2 chrX 150912155 150912155 C T g.150912155C>T ENST00000329903.4 c.1180C>T p.His394Tyr missense_variant probably damaging HCC-1.2 Missense Mutation FAM133A chrX 92964999 92964999 C A g.92964999C>A ENST00000322139.4 c.581C>A p.Ser194Tyr missense_variant benign HCC-3 Missense Mutation DDX20 chr1 112303425 112303425 G A g.112303425G>A ENST00000369702.4 c.778G>A p.Asp260Asn missense_variant benign HCC-3 Missense Mutation DENND2C chr1 115143469 115143469 T C g.115143469T>C ENST00000393276.3 c.1757A>G p.Lys643Arg missense_variant benign HCC-3 Missense Mutation IGSF3 chr1 117150851 117150851 C T g.117150851C>T ENST00000318837.6 c.935G>A p.Arg312His missense_variant probably damaging HCC-3 Missense Mutation POGZ chr1 151378683 151378683 T C g.151378683T>C ENST00000271715.2 c.2828A>G p.Asp943Gly missense_variant benign HCC-3 Missense Mutation SPTA1 chr1 158607931 158607931 C T g.158607931C>T ENST00000368147.4 c.5081G>A p.Arg1694His missense_variant probably damaging HCC-3 Missense Mutation ADAMTS4 chr1 161168120 161168120 A G g.161168120A>G ENST00000367995.3 c.298T>C p.Ser100Pro missense_variant benign HCC-3 Missense Mutation MIR205HG chr1 209603789 209603789 A T g.209603789A>T NM_001104548.1 c.131A>T p.Tyr44Phe missense_variant NA HCC-3 Missense Mutation PTPRC chr1 198676028 198676028 C A g.198676028C>A ENST00000367376.2 c.845C>A p.Ser282Tyr missense_variant benign HCC-3 Missense Mutation GPATCH2 chr1 217793189 217793189 G T g.217793189G>T ENST00000366934.3 c.709C>A p.Gln237Lys missense_variant benign HCC-3 Missense Mutation OBSCN chr1 228461096 228461096 A T g.228461096A>T ENST00000570156.2 c.6110A>T p.D2037V missense_variant NA HCC-3 Missense Mutation PEX10 chr1 2339977 2339977 C A g.2339977C>A ENST00000288774.3 c.514G>T p.Ala172Ser missense_variant benign HCC-3 Missense Mutation HCRTR1 chr1 32090716 32090716 A G g.32090716A>G ENST00000373705.1 c.1084A>G p.Ser362Gly missense_variant probably damaging HCC-3 Missense Mutation CYP4B1 chr1 47280765 47280765 T G g.47280765T>G ENST00000271153.4 c.899T>G p.Leu300Arg missense_variant probably damaging HCC-3 Missense Mutation SLC35D1 chr1 67518477 67518477 G A g.67518477G>A ENST00000235345.5 c.301C>T p.Leu101Phe missense_variant benign HCC-3 Missense Mutation COL24A1 chr1 86334514 86334514 T C g.86334514T>C ENST00000370571.2 c.3143A>G p.Glu1048Gly missense_variant probably damaging HCC-3 Missense Mutation SEP15 chr1 87369110 87369110 A T g.87369110A>T ENST00000331835.5 c.97T>A p.F33I missense_variant benign HCC-3 Missense Mutation NOC2L chr1 880159 880159 G C g.880159G>C ENST00000327044.6 c.2165C>G p.Ala722Gly missense_variant possibly damaging HCC-3 Missense Mutation COL17A1 chr10 105797412 105797412 C T g.105797412C>T ENST00000353479.5 c.3190G>A p.Val1064Ile missense_variant probably damaging HCC-3 Missense Mutation PNLIPRP3 chr10 118196270 118196270 C T g.118196270C>T ENST00000369230.3 c.97C>T p.Pro33Ser missense_variant probably damaging HCC-3 Missense Mutation ANKRD30A chr10 37422905 37422905 C A g.37422905C>A ENST00000361713.1 c.511C>A p.Gln171Lys missense_variant possibly damaging HCC-3 Missense Mutation ANK3 chr10 61840327 61840327 T C g.61840327T>C ENST00000280772.2 c.4400A>G p.Lys1467Arg missense_variant possibly damaging HCC-3 Missense Mutation HOGA1 chr10 99358619 99358619 T C g.99358619T>C ENST00000370646.4 c.299T>C p.Met100Thr missense_variant benign HCC-3 Missense Mutation ZBTB44 chr11 130131525 130131525 A G g.130131525A>G ENST00000357899.4 c.244T>C p.Phe82Leu missense_variant probably damaging HCC-3 Missense Mutation FER1L5 chr2 97334634 97334634 A G g.97334634A>G NM_001113382.1 c.1145A>G p.Asp382Gly missense_variant benign HCC-3 Missense Mutation ZNF195 chr11 3380754 3380754 G A g.3380754G>A ENST00000399602.4 c.1484C>T p.Thr495Met missense_variant probably damaging HCC-3 Missense Mutation C11orf96 chr11 43948022 43948022 G C g.43948022G>C ENST00000339446.3 c.171G>C p.K57N missense_variant NA HCC-3 Missense Mutation OR4S2 chr11 55418393 55418393 A C g.55418393A>C ENST00000312422.2 c.14A>C p.Asn5Thr missense_variant possibly damaging HCC-3 Missense Mutation ZDHHC5 chr11 57466506 57466506 A T g.57466506A>T ENST00000287169.3 c.1598A>T p.Tyr533Phe missense_variant probably damaging HCC-3 Missense Mutation EHBP1L1 chr11 65348822 65348822 C T g.65348822C>T ENST00000309295.4 c.844C>T p.Pro282Ser missense_variant possibly damaging HCC-3 Missense Mutation KCNK7 chr11 65361295 65361295 C G g.65361295C>G ENST00000340313.4 c.370G>C p.Val124Leu missense_variant benign HCC-3 Missense Mutation DCHS1 chr11 6651442 6651442 G A g.6651442G>A ENST00000299441.3 c.4583C>T p.Ala1528Val missense_variant possibly damaging HCC-3 Missense Mutation ANO1 chr11 70007273 70007273 G A g.70007273G>A ENST00000355303.5 c.1585G>A p.Val529Met missense_variant possibly damaging HCC-3 Missense Mutation FAT3 chr11 92534220 92534220 G T g.92534220G>T ENST00000298047.6 c.8041G>T p.Val2681Leu missense_variant benign HCC-3 Missense Mutation ANKRD13A chr12 110450971 110450971 T A g.110450971T>A ENST00000261739.4 c.271T>A p.Tyr91Asn missense_variant benign HCC-3 Missense Mutation CCDC92 chr12 124421778 124421778 C T g.124421778C>T ENST00000238156.3 c.823G>A p.Glu275Lys missense_variant possibly damaging HCC-3 Missense Mutation HEBP1 chr12 13128313 13128313 A G g.13128313A>G ENST00000014930.4 c.499T>C p.Phe167Leu missense_variant benign HCC-3 Missense Mutation ERGIC2 chr12 29509335 29509335 A T g.29509335A>T ENST00000360150.4 c.552T>A p.Asn184Lys missense_variant probably damaging HCC-3 Missense Mutation VWA8 chr13 42142416 42142416 G A g.42142416G>A ENST00000379310.3 c.5635C>T p.Arg1879Trp missense_variant probably damaging HCC-3 Missense Mutation ZC3H13 chr13 46543194 46543194 C T g.46543194C>T ENST00000242848.4 c.3485G>A p.Arg1162Lys missense_variant benign HCC-3 Missense Mutation CAB39L chr13 49933892 49933892 T C g.49933892T>C ENST00000347776.5 c.353A>G p.Tyr118Cys missense_variant possibly damaging HCC-3 Missense Mutation GPR18 chr13 99907240 99907240 C T g.99907240C>T ENST00000340807.3 c.887G>A p.Arg296Gln missense_variant probably damaging HCC-3 Missense Mutation HHIPL1 chr14 100129334 100129334 A T g.100129334A>T ENST00000330710.5 c.1624A>T p.Ile542Phe missense_variant probably damaging HCC-3 Missense Mutation PLD4 chr14 105393542 105393542 G T g.105393542G>T ENST00000392593.4 c.65G>T p.Arg22Leu missense_variant benign HCC-3 Missense Mutation C14orf80 chr14 105958611 105958611 C G g.105958611C>G ENST00000354560.6 c.394C>G p.Arg132Gly missense_variant benign HCC-3 Missense Mutation OR6S1 chr14 21109130 21109130 A C g.21109130A>C ENST00000320704.3 c.721T>G p.Phe241Val missense_variant probably damaging HCC-3 Missense Mutation RPGRIP1 chr14 21811213 21811213 A G g.21811213A>G ENST00000206660.6 c.3358A>G p.Ile1120Val missense_variant possibly damaging HCC-3 Missense Mutation SAMD4A chr14 55241681 55241681 C T g.55241681C>T ENST00000392067.3 c.1745C>T p.Pro582Leu missense_variant probably damaging HCC-3 Missense Mutation SYT16 chr14 62567325 62567325 G A g.62567325G>A ENST00000430451.2 c.1838G>A p.Gly613Asp missense_variant probably damaging HCC-3 Missense Mutation ADAM20 chr14 70990196 70990196 G A g.70990196G>A ENST00000256389.3 c.1429C>T p.Arg477Trp missense_variant possibly damaging HCC-3 Missense Mutation ACOT6 chr14 74085950 74085950 A G g.74085950A>G ENST00000381139.1 c.31A>G p.Ser11Gly missense_variant benign HCC-3 Missense Mutation NPC2 chr14 74959964 74959964 G A g.74959964G>A ENST00000238633.2 c.14C>T p.Ala5Val missense_variant benign HCC-3 Missense Mutation AREL1 chr14 75151270 75151270 G C g.75151270G>C ENST00000356357.4 c.130C>G p.Arg44Gly missense_variant benign HCC-3 Missense Mutation PTPN21 chr14 88934592 88934592 T A g.88934592T>A ENST00000328736.3 c.3414A>T p.Arg1138Ser missense_variant benign HCC-3 Missense Mutation ZSCAN29 chr15 43658755 43658755 T C g.43658755T>C ENST00000396976.2 c.775A>G p.Ile259Val missense_variant probably damaging HCC-3 Missense Mutation DUOX1 chr15 45455752 45455752 G A g.45455752G>A ENST00000321429.4 c.4271G>A p.Arg1424Gln missense_variant probably damaging HCC-3 Missense Mutation TMEM202 chr15 72691229 72691229 G A g.72691229G>A ENST00000341689.3 c.317G>A p.Ser106Asn missense_variant possibly damaging HCC-3 Missense Mutation XYLT1 chr16 17294419 17294419 C T g.17294419C>T ENST00000261381.6 c.1006G>A p.Gly336Ser missense_variant probably damaging HCC-3 Missense Mutation APOBR chr16 28508611 28508611 C T g.28508611C>T ENST00000564831.1 c.2249C>T p.Pro750Leu missense_variant benign HCC-3 Missense Mutation PYDC1 chr16 31228342 31228342 G C g.31228342G>C ENST00000302964.3 c.8C>G p.Thr3Arg missense_variant benign HCC-3 Missense Mutation NUDT21 chr16 56468333 56468333 T A g.56468333T>A ENST00000300291.5 c.572A>T p.Tyr191Phe missense_variant benign HCC-3 Missense Mutation CETP chr16 56996996 56996996 G C g.56996996G>C ENST00000200676.3 c.193G>C p.Ala65Pro missense_variant possibly damaging HCC-3 Missense Mutation AP1G1 chr16 71784130 71784130 G C g.71784130G>C ENST00000299980.4 c.1390C>G p.Leu464Val missense_variant benign HCC-3 Missense Mutation ATP2C2 chr16 84486806 84486806 G A g.84486806G>A ENST00000262429.4 c.1894G>A p.Val632Met missense_variant benign HCC-3 Missense Mutation MC1R chr16 89986029 89986029 C G g.89986029C>G ENST00000555147.1 c.363C>G p.Asp121Glu missense_variant benign HCC-3 Missense Mutation SPECC1 chr17 20108021 20108021 G T g.20108021G>T ENST00000261503.5 c.659G>T p.Gly220Val missense_variant benign HCC-3 Missense Mutation COASY chr17 40716740 40716740 T C g.40716740T>C ENST00000393818.2 c.1061T>C p.Leu354Pro missense_variant benign HCC-3 Missense Mutation FAM134C chr17 40734156 40734156 C T g.40734156C>T ENST00000309428.5 c.1076G>A p.Arg359His missense_variant benign HCC-3 Missense Mutation PLD2 chr17 4713048 4713048 G A g.4713048G>A ENST00000263088.6 c.677G>A p.Arg226Gln missense_variant benign HCC-3 Missense Mutation MEP1B chr18 29788138 29788138 A G g.29788138A>G ENST00000269202.6 c.823A>G p.Met275Val missense_variant probably damaging HCC-3 Missense Mutation KLHL14 chr18 30350385 30350385 T A g.30350385T>A ENST00000358095.4 c.170A>T p.Tyr57Phe missense_variant benign HCC-3 Missense Mutation MOCOS chr18 33779768 33779768 G A g.33779768G>A ENST00000261326.5 c.422G>A p.Ser141Asn missense_variant benign HCC-3 Missense Mutation APBA3 chr19 3754071 3754071 C A g.3754071C>A ENST00000316757.3 c.795G>T p.Glu265Asp missense_variant benign HCC-3 Missense Mutation ZNF428 chr19 44112113 44112113 G A g.44112113G>A ENST00000300811.3 c.223C>T p.Arg75Cys missense_variant probably damaging HCC-3 Missense Mutation PVR chr19 45150723 45150723 T C g.45150723T>C ENST00000344956.4 c.308T>C p.Leu103Pro missense_variant possibly damaging HCC-3 Missense Mutation ZNF541 chr19 48049054 48049054 C A g.48049054C>A ENST00000314121.4 c.732G>T p.E244D missense_variant benign HCC-3 Missense Mutation PPP1R15A chr19 49378911 49378911 T G g.49378911T>G ENST00000200453.5 c.1706T>G p.Val569Gly missense_variant probably damaging HCC-3 Missense Mutation SIGLEC5 chr19 52130901 52130901 G A g.52130901G>A ENST00000222107.4 c.1096C>T p.Arg366Trp missense_variant benign HCC-3 Missense Mutation NEB chr2 152534246 152534246 T C g.152534246T>C ENST00000172853.10 c.3607A>G p.Ile1203Val missense_variant benign HCC-3 Missense Mutation HAT1 chr2 172823019 172823019 C T g.172823019C>T ENST00000264108.4 c.701C>T p.Thr234Ile missense_variant possibly damaging HCC-3 Missense Mutation OSBPL6 chr2 179226508 179226508 C T g.179226508C>T ENST00000190611.4 c.1253C>T p.Thr418Met missense_variant benign HCC-3 Missense Mutation TTN chr2 179641393 179641393 G A g.179641393G>A ENST00000342992.6 c.5198C>T p.Thr1733Met missense_variant probably damaging HCC-3 Missense Mutation DNAH7 chr2 196762435 196762435 C T g.196762435C>T ENST00000312428.6 c.4603G>A p.Val1535Ile missense_variant probably damaging HCC-3 Missense Mutation MOB4 chr2 198415102 198415102 G A g.198415102G>A ENST00000323303.4 c.538G>A p.Glu180Lys missense_variant benign HCC-3 Missense Mutation MAP2 chr2 210559313 210559313 C T g.210559313C>T ENST00000360351.4 c.2419C>T p.Pro807Ser missense_variant probably damaging HCC-3 Missense Mutation CPS1 chr2 211476894 211476894 G A g.211476894G>A ENST00000233072.5 c.2445G>A p.Met815Ile missense_variant probably damaging HCC-3 Missense Mutation FARSB chr2 223513485 223513485 C T g.223513485C>T ENST00000281828.6 c.88G>A p.Glu30Lys missense_variant benign HCC-3 Missense Mutation RBM44 chr2 238742994 238742994 A G g.238742994A>G ENST00000316997.4 c.3109A>G p.Thr1037Ala missense_variant benign HCC-3 Missense Mutation SNED1 chr2 241988124 241988124 G C g.241988124G>C ENST00000310397.8 c.1445G>C p.Gly482Ala missense_variant benign HCC-3 Missense Mutation GPR113 chr2 26534639 26534639 T A g.26534639T>A ENST00000311519.1 c.1957A>T p.Ser653Cys missense_variant probably damaging HCC-3 Missense Mutation C2orf73 chr2 54587521 54587521 A G g.54587521A>G ENST00000398634.2 c.686A>G p.Gln229Arg missense_variant probably damaging HCC-3 Missense Mutation ALMS1 chr2 73675205 73675205 C G g.73675205C>G ENST00000264448.6 c.1548C>G p.D516E missense_variant benign HCC-3 Missense Mutation MST1L chr1 17085028 17085028 G A g.17085028G>A NM_001271733.1 c.1447C>T p.Arg483Cys missense_variant probably damaging HCC-3 Missense Mutation ZNF133 chr20 18295884 18295884 A G g.18295884A>G ENST00000316358.4 c.389A>G p.Gln130Arg missense_variant possibly damaging HCC-3 Missense Mutation ACTN3 chr11 66328803 66328803 A G g.66328803A>G ENST00000513398.1 c.1966A>G p.Ile656Val missense_variant benign HCC-3 Missense Mutation SNTA1 chr20 32000503 32000503 C A g.32000503C>A ENST00000217381.2 c.787G>T p.Ala263Ser missense_variant benign HCC-3 Missense Mutation GDF5OS chr20 34022639 34022639 C T g.34022639C>T ENST00000374375.1 c.683C>T p.S228L missense_variant NA HCC-3 Missense Mutation ZSWIM3 chr20 44506018 44506018 C A g.44506018C>A ENST00000255152.2 c.821C>A p.Ser274Tyr missense_variant possibly damaging HCC-3 Missense Mutation DIDO1 chr20 61511399 61511399 T C g.61511399T>C ENST00000266070.4 c.5909A>G p.Gln1970Arg missense_variant benign HCC-3 Missense Mutation HELZ2 chr20 62198792 62198792 C T g.62198792C>T ENST00000467148.1 c.1919G>A p.Arg640Gln missense_variant benign HCC-3 Missense Mutation ZGPAT chr20 62367256 62367256 G T g.62367256G>T ENST00000328969.5 c.1581G>T p.Lys527Asn missense_variant probably damaging HCC-3 Missense Mutation MYT1 chr20 62844979 62844979 C G g.62844979C>G ENST00000328439.1 c.1610C>G p.Ser537Cys missense_variant probably damaging HCC-3 Missense Mutation KRTAP10-1 chr21 45959391 45959391 T C g.45959391T>C ENST00000400375.1 c.643A>G p.Ser215Gly missense_variant benign HCC-3 Missense Mutation GAS2L1 chr22 29708259 29708259 C T g.29708259C>T ENST00000406549.3 c.1138C>T p.P380S missense_variant benign HCC-3 Missense Mutation GGA1 chr22 38025495 38025495 G T g.38025495G>T ENST00000343632.4 c.1120G>T p.Gly374Cys missense_variant benign HCC-3 Missense Mutation TMEM184B chr22 38617522 38617522 C T g.38617522C>T ENST00000361684.4 c.1178G>A p.Arg393His missense_variant probably damaging HCC-3 Missense Mutation PARVG chr22 44601646 44601646 G A g.44601646G>A ENST00000415224.1 c.823G>A p.Val275Ile missense_variant benign HCC-3 Missense Mutation COL6A6 chr3 130285974 130285974 G A g.130285974G>A ENST00000358511.6 c.1711G>A p.Gly571Arg missense_variant probably damaging HCC-3 Missense Mutation CHST2 chr3 142840022 142840022 C T g.142840022C>T ENST00000309575.3 c.364C>T p.Leu122Phe missense_variant benign HCC-3 Missense Mutation SKIL chr3 170102530 170102530 G C g.170102530G>C ENST00000259119.4 c.1406G>C p.Ser469Thr missense_variant benign HCC-3 Missense Mutation GOLGA4 chr3 37396646 37396646 A C g.37396646A>C ENST00000361924.2 c.6631A>C p.Lys2211Gln missense_variant possibly damaging HCC-3 Missense Mutation FAM208A chr3 56661688 56661688 T C g.56661688T>C ENST00000493960.2 c.3952A>G p.Thr1318Ala missense_variant probably damaging HCC-3 Missense Mutation EPHA6 chr3 96706723 96706723 G A g.96706723G>A ENST00000389672.5 c.1000G>A p.Ala334Thr missense_variant probably damaging HCC-3 Missense Mutation MAD2L1 chr4 120981304 120981304 A T g.120981304A>T ENST00000296509.6 c.587T>A p.Met196Lys missense_variant benign HCC-3 Missense Mutation POU4F2 chr4 147561419 147561419 A G g.147561419A>G ENST00000281321.3 c.689A>G p.Gln230Arg missense_variant probably damaging HCC-3 Missense Mutation TRIM2 chr4 154217138 154217138 C T g.154217138C>T ENST00000437508.2 c.1379C>T p.Thr460Ile missense_variant benign HCC-3 Missense Mutation FAT1 chr4 187630857 187630857 G T g.187630857G>T ENST00000441802.2 c.125C>A p.Thr42Asn missense_variant probably damaging HCC-3 Missense Mutation LRRC66 chr4 52861722 52861722 C T g.52861722C>T ENST00000343457.3 c.1466G>A p.Gly489Glu missense_variant benign HCC-3 Missense Mutation ERVMER34-1 chr4 53611515 53611515 A G g.53611515A>G ENST00000440542.1 c.173T>C p.Leu58Pro missense_variant probably damaging HCC-3 Missense Mutation GABRB2 chr5 160972264 160972264 G A g.160972264G>A ENST00000274547.2 c.206C>T p.Ala69Val missense_variant possibly damaging HCC-3 Missense Mutation GOLPH3 chr5 32126554 32126554 C T g.32126554C>T ENST00000265070.6 c.661G>A p.Val221Ile missense_variant possibly damaging HCC-3 Missense Mutation PDE4D chr5 58271498 58271498 C A g.58271498C>A ENST00000340635.6 c.1999G>T p.Val667Leu missense_variant possibly damaging HCC-3 Missense Mutation AGGF1 chr5 76326647 76326647 A T g.76326647A>T ENST00000312916.7 c.56A>T p.Glu19Val missense_variant possibly damaging HCC-3 Missense Mutation FIG4 chr6 110048336 110048336 A G g.110048336A>G ENST00000230124.3 c.314A>G p.Tyr105Cys missense_variant probably damaging HCC-3 Missense Mutation SLC35F1 chr6 118229016 118229016 T C g.118229016T>C ENST00000360388.4 c.127T>C p.Ser43Pro missense_variant benign HCC-3 Missense Mutation ECHDC1 chr6 127611307 127611307 C T g.127611307C>T ENST00000531967.1 c.631G>A p.Val211Met missense_variant benign HCC-3 Missense Mutation PHACTR2 chr6 144104376 144104376 C G g.144104376C>G ENST00000427704.2 c.1633C>G p.Gln545Glu missense_variant benign HCC-3 Missense Mutation SCAF8 chr6 155123126 155123126 T G g.155123126T>G ENST00000367178.3 c.628T>G p.Leu210Val missense_variant probably damaging HCC-3 Missense Mutation ARID1B chr6 157099257 157099257 C A g.157099257C>A ENST00000346085.5 c.194C>A p.Pro65His missense_variant probably damaging HCC-3 Missense Mutation RPS6KA2 chr6 166845950 166845950 G A g.166845950G>A ENST00000265678.4 c.1361C>T p.Ser454Leu missense_variant possibly damaging HCC-3 Missense Mutation E2F3 chr6 20483000 20483000 A C g.20483000A>C ENST00000346618.3 c.733A>C p.Ser245Arg missense_variant benign HCC-3 Missense Mutation OR2H1 chr6 29429956 29429956 G A g.29429956G>A ENST00000377132.1 c.410G>A p.Arg137His missense_variant benign HCC-3 Missense Mutation ZNF76 chr6 35259464 35259464 G A g.35259464G>A ENST00000339411.5 c.881G>A p.Arg294His missense_variant probably damaging HCC-3 Missense Mutation MDN1 chr6 90428665 90428665 G C g.90428665G>C ENST00000369393.3 c.6142C>G p.Pro2048Ala missense_variant benign HCC-3 Missense Mutation SRPK2 chr7 104844077 104844077 T C g.104844077T>C ENST00000393651.3 c.227A>G p.Lys76Arg (Splice) missense_variant,splice_region_variant possibly damaging HCC-3 Missense Mutation CDHR3 chr7 105671249 105671249 G C g.105671249G>C ENST00000317716.9 c.2316G>C p.Gln772His missense_variant benign HCC-3 Missense Mutation MGAM chr7 141722148 141722148 A C g.141722148A>C ENST00000475668.2 c.791A>C p.Tyr264Ser missense_variant probably damaging HCC-3 Missense Mutation ZNF680 chr7 63981861 63981861 T G g.63981861T>G ENST00000309683.6 c.1271A>C p.His424Pro missense_variant probably damaging HCC-3 Missense Mutation TBL2 chr7 72987671 72987671 C T g.72987671C>T ENST00000305632.5 c.577G>A p.Asp193Asn missense_variant benign HCC-3 Missense Mutation NOV chr8 120430322 120430322 T A g.120430322T>A ENST00000259526.3 c.335T>A p.Phe112Tyr missense_variant possibly damaging HCC-3 Missense Mutation SFTPC chr8 22019345 22019345 G A g.22019345G>A ENST00000318561.3 c.4G>A p.Asp2Asn missense_variant probably damaging HCC-3 Missense Mutation ZBTB10 chr8 81431696 81431696 G C g.81431696G>C ENST00000430430.1 c.2549G>C p.Gly850Ala missense_variant benign HCC-3 Missense Mutation ZNF618 chr9 116811914 116811914 G A g.116811914G>A ENST00000288466.7 c.2053G>A p.Ala685Thr missense_variant probably damaging HCC-3 Missense Mutation COL27A1 chr9 116931211 116931211 G A g.116931211G>A ENST00000356083.3 c.1376G>A p.Arg459Gln missense_variant benign HCC-3 Missense Mutation COL27A1 chr9 117068828 117068828 T C g.117068828T>C ENST00000356083.3 c.4967T>C p.Leu1656Pro missense_variant probably damaging HCC-3 Missense Mutation RALGDS chr9 135977872 135977872 C T g.135977872C>T ENST00000372050.3 c.2000G>A p.Arg667His missense_variant probably damaging HCC-3 Missense Mutation NOXA1 chr9 140320739 140320739 G A g.140320739G>A ENST00000341349.2 c.217G>A p.Val73Ile missense_variant probably damaging HCC-3 Missense Mutation NOXA1 chr9 140328216 140328216 G C g.140328216G>C ENST00000341349.2 c.1079G>C p.Gly360Ala missense_variant benign HCC-3 Missense Mutation PRSS3 chr9 33799093 33799093 G A g.33799093G>A ENST00000361005.5 c.830G>A p.Cys277Tyr missense_variant probably damaging HCC-3 Missense Mutation KIF24 chr9 34257539 34257539 C T g.34257539C>T ENST00000379166.2 c.2066G>A p.Gly689Asp missense_variant benign HCC-3 Missense Mutation RLN1 chr9 5335450 5335450 T C g.5335450T>C ENST00000223862.1 c.359A>G p.Lys120Arg missense_variant probably damaging HCC-3 Missense Mutation FRMD3 chr9 85882022 85882022 C T g.85882022C>T ENST00000328788.1 c.71G>A p.R24Q missense_variant possibly damaging HCC-3 Missense Mutation SLC28A3 chr9 86901021 86901021 G A g.86901021G>A ENST00000376238.4 c.1286C>T p.Ser429Leu missense_variant possibly damaging HCC-3 Missense Mutation PLXNB3 chrX 153037666 153037666 A G g.153037666A>G ENST00000361971.5 c.2699A>G p.Asn900Ser missense_variant benign HCC-3 Missense Mutation MAGEB17 chrX 16189289 16189289 C G g.16189289C>G ENST00000329538.5 c.784C>G p.Pro262Ala missense_variant benign HCC-3 Missense Mutation SRPX2 chrX 99922289 99922289 A G g.99922289A>G ENST00000373004.3 c.980A>G p.Asn327Ser missense_variant benign HCC-3 Missense Mutation TBL1Y chrY 6948887 6948887 G T g.6948887G>T ENST00000346432.3 c.1070G>T p.Gly357Val missense_variant probably damaging HCC-1.1 Missense Mutation HNRNPCL1 chr1 12907365 12907365 C T g.12907365C>T ENST00000317869.6 c.778G>A p.Glu260Lys missense_variant possibly damaging HCC-1.1 Missense Mutation THBS3 chr1 155167407 155167407 A C g.155167407A>C ENST00000368378.3 c.2346T>G p.His782Gln missense_variant probably damaging HCC-1.1 Missense Mutation PEAR1 chr1 156878523 156878523 G A g.156878523G>A ENST00000292357.7 c.1192G>A p.Asp398Asn missense_variant possibly damaging HCC-1.1 Missense Mutation LHX4 chr1 180241084 180241084 G C g.180241084G>C ENST00000263726.2 c.721G>C p.Glu241Gln missense_variant benign HCC-1.1 Missense Mutation ELF3 chr1 201981475 201981475 C T g.201981475C>T ENST00000359651.3 c.389C>T p.Ser130Phe missense_variant benign HCC-1.1 Missense Mutation MIA3 chr1 222801973 222801973 G T g.222801973G>T ENST00000344441.6 c.1411G>T p.Val471Phe missense_variant possibly damaging HCC-1.1 Missense Mutation OR2T33 chr1 248436227 248436227 C T g.248436227C>T ENST00000318021.2 c.890G>A p.Gly297Glu missense_variant benign HCC-1.1 Missense Mutation OR2T33 chr1 248436245 248436245 T C g.248436245T>C ENST00000318021.2 c.872A>G p.Lys291Arg missense_variant benign HCC-1.1 Missense Mutation ZCCHC17 chr1 31819535 31819535 G T g.31819535G>T ENST00000344147.5 c.366G>T p.Lys122Asn missense_variant possibly damaging HCC-1.1 Missense Mutation CSMD2 chr1 33985512 33985512 G A g.33985512G>A ENST00000241312.4 c.10204C>T p.Arg3546Cys missense_variant,NMD_transcript_variant benign HCC-1.1 Missense Mutation EXO5 chr1 40981256 40981256 C A g.40981256C>A ENST00000296380.4 c.1040C>A p.Thr347Asn missense_variant benign HCC-1.1 Missense Mutation ACOT7 chr1 6453428 6453428 G T g.6453428G>T ENST00000361521.4 c.32C>A p.Pro11Gln missense_variant benign HCC-1.1 Missense Mutation TCF7L2 chr10 114711316 114711316 C G g.114711316C>G ENST00000349937.2 c.331C>G p.Leu111Val missense_variant benign HCC-1.1 Missense Mutation KIAA1598 chr10 118728190 118728190 C T g.118728190C>T ENST00000260777.10 c.145G>A p.Val49Ile missense_variant benign HCC-1.1 Missense Mutation PRLHR chr10 120354591 120354591 C A g.120354591C>A ENST00000239032.2 c.166G>T p.Val56Leu missense_variant benign HCC-1.1 Missense Mutation FUT11 chr10 75532458 75532458 T C g.75532458T>C ENST00000372841.3 c.367T>C p.Tyr123His missense_variant probably damaging HCC-1.1 Missense Mutation SORBS1 chr10 97111094 97111094 C G g.97111094C>G ENST00000361941.3 c.2254G>C p.Glu752Gln missense_variant probably damaging HCC-1.1 Missense Mutation GRIA4 chr11 105774602 105774602 G C g.105774602G>C ENST00000282499.5 c.948G>C p.Arg316Ser missense_variant benign HCC-1.1 Missense Mutation TMPRSS5 chr11 113560969 113560969 C T g.113560969C>T ENST00000299882.5 c.1190G>A p.Arg397Lys missense_variant benign HCC-1.1 Missense Mutation SIK3 chr11 116767067 116767067 A C g.116767067A>C ENST00000292055.4 c.593T>G p.Leu198Arg missense_variant probably damaging HCC-1.1 Missense Mutation DSCAML1 chr11 117309681 117309681 C T g.117309681C>T ENST00000321322.6 c.4343G>A p.Arg1448His missense_variant probably damaging HCC-1.1 Missense Mutation MCAM chr11 119182271 119182271 C T g.119182271C>T ENST00000264036.4 c.1376G>A p.Arg459Gln missense_variant benign HCC-1.1 Missense Mutation TECTA chr11 121031104 121031104 C A g.121031104C>A ENST00000264037.2 c.4950C>A p.Ser1650Arg missense_variant probably damaging HCC-1.1 Missense Mutation CCDC15 chr11 124873829 124873829 G A g.124873829G>A ENST00000344762.5 c.2281G>A p.Val761Met missense_variant probably damaging HCC-1.1 Missense Mutation KCNJ5 chr11 128781907 128781907 G A g.128781907G>A ENST00000338350.4 c.739G>A p.Gly247Arg missense_variant probably damaging HCC-1.1 Missense Mutation NFRKB chr11 129743788 129743788 C A g.129743788C>A ENST00000304521.5 c.2402G>T p.Gly801Val missense_variant benign HCC-1.1 Missense Mutation NAV2 chr11 20122548 20122548 C T g.20122548C>T ENST00000396087.3 c.6424C>T p.Arg2142Cys missense_variant probably damaging HCC-1.1 Missense Mutation ANO3 chr11 26669319 26669319 T G g.26669319T>G ENST00000256737.3 c.2492T>G p.Ile831Ser missense_variant probably damaging HCC-1.1 Missense Mutation DCDC5 chr11 30953328 30953328 G A g.30953328G>A NM_020869.3 c.208C>T p.Arg70Trp missense_variant benign HCC-1.1 Missense Mutation NUP98 chr11 3720413 3720413 T C g.3720413T>C ENST00000324932.7 c.3908A>G p.Glu1303Gly missense_variant probably damaging HCC-1.1 Missense Mutation MADD chr11 47296524 47296524 G C g.47296524G>C ENST00000311027.5 c.473G>C p.Arg158Pro missense_variant benign HCC-1.1 Missense Mutation MYBPC3 chr11 47354455 47354455 C A g.47354455C>A ENST00000399249.2 c.3400G>T p.Gly1134Cys missense_variant possibly damaging HCC-1.1 Missense Mutation OR1S1 chr11 57982443 57982443 T A g.57982443T>A ENST00000309433.6 c.227T>A p.Leu76His missense_variant probably damaging HCC-1.1 Missense Mutation MS4A6A chr11 59947315 59947315 C T g.59947315C>T ENST00000323961.3 c.271G>A p.Gly91Arg missense_variant probably damaging HCC-1.1 Missense Mutation RTN3 chr11 63449191 63449191 G T g.63449191G>T ENST00000339997.4 c.83G>T p.Gly28Val missense_variant probably damaging HCC-1.1 Missense Mutation ZNF215 chr11 6977031 6977031 A G g.6977031A>G ENST00000278319.5 c.823A>G p.Arg275Gly missense_variant benign HCC-1.1 Missense Mutation MYO7A chr11 76919518 76919518 G A g.76919518G>A ENST00000409709.3 c.5900G>A p.Arg1967Gln missense_variant probably damaging HCC-1.1 Missense Mutation FAT3 chr11 92088388 92088388 A G g.92088388A>G ENST00000298047.6 c.3110A>G p.Asn1037Ser missense_variant probably damaging HCC-1.1 Missense Mutation CHFR chr12 133418176 133418176 G T g.133418176G>T ENST00000432561.2 c.1959C>A p.Phe653Leu missense_variant probably damaging HCC-1.1 Missense Mutation PIK3C2G chr12 18435178 18435178 G A g.18435178G>A ENST00000266497.5 c.163G>A p.Glu55Lys missense_variant benign HCC-1.1 Missense Mutation HDAC7 chr12 48188568 48188568 G C g.48188568G>C ENST00000427332.2 c.1316C>G p.Pro439Arg missense_variant benign HCC-1.1 Missense Mutation KCNH3 chr12 49936542 49936542 C T g.49936542C>T ENST00000257981.6 c.499C>T p.Arg167Trp missense_variant probably damaging HCC-1.1 Missense Mutation COPS7A chr12 6839618 6839618 G A g.6839618G>A ENST00000229251.3 c.581G>A p.Arg194His missense_variant benign HCC-1.1 Missense Mutation MYCBP2 chr13 77900828 77900828 A C g.77900828A>C ENST00000407578.2 c.83T>G p.Phe28Cys missense_variant benign HCC-1.1 Missense Mutation CHD8 chr14 21862285 21862285 A G g.21862285A>G ENST00000399982.2 c.5669T>C p.Ile1890Thr missense_variant probably damaging HCC-1.1 Missense Mutation CBLN3 chr14 24898110 24898110 G T g.24898110G>T ENST00000267406.6 c.151C>A p.Pro51Thr missense_variant possibly damaging HCC-1.1 Missense Mutation AKAP6 chr14 33292003 33292003 A T g.33292003A>T ENST00000280979.4 c.4984A>T p.Ser1662Cys missense_variant benign HCC-1.1 Missense Mutation DCAF4 chr14 73407054 73407054 G A g.73407054G>A ENST00000353777.3 c.320G>A p.Arg107Gln missense_variant benign HCC-1.1 Missense Mutation RYR3 chr15 33954722 33954722 G C g.33954722G>C ENST00000389232.4 c.4991G>C p.Gly1664Ala missense_variant benign HCC-1.1 Missense Mutation ISLR2 chr15 74426270 74426270 C T g.74426270C>T ENST00000361742.3 c.1175C>T p.Ala392Val missense_variant benign HCC-1.1 Missense Mutation ZNF592 chr15 85342059 85342059 C T g.85342059C>T ENST00000299927.3 c.2977C>T p.Pro993Ser missense_variant possibly damaging HCC-1.1 Missense Mutation C16orf93 chr16 30772885 30772885 G A g.30772885G>A ENST00000541260.1 c.185C>T p.Pro62Leu missense_variant damaging HCC-1.1 Missense Mutation METRN chr16 766986 766986 G A g.766986G>A ENST00000568223.2 c.559G>A p.Asp187Asn missense_variant possibly damaging HCC-1.1 Missense Mutation TEX13C chrX 124455077 124455077 C A g.124455077C>A NM_001195272.1 c.1109C>A p.Pro370His missense_variant NA HCC-1.1 Missense Mutation ZNF469 chr16 88504209 88504209 G C g.88504209G>C ENST00000437464.1 c.10247G>C p.Gly3416Ala missense_variant possibly damaging HCC-1.1 Missense Mutation MYH2 chr17 10436624 10436624 A G g.10436624A>G ENST00000245503.5 c.2419T>C p.Tyr807His missense_variant benign HCC-1.1 Missense Mutation SSH2 chr17 28256979 28256979 T C g.28256979T>C ENST00000269033.3 c.40A>G p.Thr14Ala missense_variant benign HCC-1.1 Missense Mutation DHX58 chr17 40262767 40262767 C T g.40262767C>T ENST00000251642.3 c.535G>A p.Asp179Asn missense_variant possibly damaging HCC-1.1 Missense Mutation DBF4B chr17 42828437 42828437 G T g.42828437G>T ENST00000315005.3 c.1664G>T p.Arg555Leu missense_variant benign HCC-1.1 Missense Mutation WSCD1 chr17 5993694 5993694 G A g.5993694G>A ENST00000317744.5 c.596G>A p.Arg199Gln missense_variant probably damaging HCC-1.1 Missense Mutation XAF1 chr17 6674145 6674145 G T g.6674145G>T ENST00000361842.3 c.691G>T p.Ala231Ser missense_variant benign HCC-1.1 Missense Mutation ABCA10 chr17 67153031 67153031 T C g.67153031T>C ENST00000269081.4 c.3397A>G p.Ile1133Val missense_variant benign HCC-1.1 Missense Mutation GRIN2C chr17 72850915 72850915 T G g.72850915T>G ENST00000293190.5 c.317A>C p.Gln106Pro missense_variant possibly damaging HCC-1.1 Missense Mutation UNC13D chr17 73830411 73830411 C T g.73830411C>T ENST00000207549.4 c.2293G>A p.Glu765Lys missense_variant benign HCC-1.1 Missense Mutation SEPT9 chr17 75398657 75398657 C T g.75398657C>T ENST00000427177.1 c.593C>T p.Ala198Val missense_variant benign HCC-1.1 Missense Mutation NPC1 chr18 21152099 21152099 C T g.21152099C>T ENST00000269228.5 c.226G>A p.Asp76Asn missense_variant benign HCC-1.1 Missense Mutation MYO9B chr19 17283733 17283733 G A g.17283733G>A ENST00000397274.2 c.2101G>A p.Ala701Thr missense_variant probably damaging HCC-1.1 Missense Mutation ACPT chr19 51298095 51298095 C A g.51298095C>A ENST00000270593.1 c.1039C>A p.Pro347Thr missense_variant benign HCC-1.1 Missense Mutation SBK2 chr19 56041345 56041345 C T g.56041345C>T ENST00000344158.3 c.802G>A p.Ala268Thr missense_variant benign HCC-1.1 Missense Mutation INSR chr19 7142913 7142913 C T g.7142913C>T ENST00000302850.5 c.2456G>A p.Arg819His missense_variant probably damaging HCC-1.1 Missense Mutation NBAS chr2 15701421 15701421 G T g.15701421G>T ENST00000281513.5 c.8C>A p.Ala3Asp missense_variant possibly damaging HCC-1.1 Missense Mutation TTN chr2 179664397 179664397 G T g.179664397G>T ENST00000342175.6 c.731C>A p.Ala244Asp missense_variant benign HCC-1.1 Missense Mutation APOB chr2 21232455 21232455 A T g.21232455A>T ENST00000233242.1 c.7285T>A p.Ser2429Thr missense_variant benign HCC-1.1 Missense Mutation TNS1 chr2 218712307 218712307 G A g.218712307G>A ENST00000171887.4 c.2558C>T p.Ala853Val missense_variant benign HCC-1.1 Missense Mutation FAM179A chr2 29240721 29240721 G A g.29240721G>A ENST00000379558.4 c.1259G>A p.Arg420Lys missense_variant probably damaging HCC-1.1 Missense Mutation CCDC104 chr2 55772086 55772086 C T g.55772086C>T ENST00000349456.4 c.971C>T p.Thr324Ile missense_variant probably damaging HCC-1.1 Missense Mutation STK35 chr20 2083553 2083553 C A g.2083553C>A ENST00000381482.3 c.434C>A p.Thr145Lys missense_variant benign HCC-1.1 Missense Mutation DEFB132 chr20 238439 238439 T C g.238439T>C ENST00000382376.3 c.20T>C p.Val7Ala missense_variant benign HCC-1.1 Missense Mutation BPIFB3 chr20 31652542 31652542 C G g.31652542C>G ENST00000375494.3 c.815C>G p.Pro272Arg missense_variant probably damaging HCC-1.1 Missense Mutation SDC4 chr20 43961691 43961691 A T g.43961691A>T ENST00000372733.3 c.218T>A p.Met73Lys missense_variant benign HCC-1.1 Missense Mutation OCSTAMP chr20 45170386 45170386 G A g.45170386G>A ENST00000279028.2 c.1228C>T p.Leu410Phe missense_variant probably damaging HCC-1.1 Missense Mutation CABLES2 chr20 60966314 60966314 C A g.60966314C>A ENST00000279101.5 c.1287G>T p.Gln429His missense_variant benign HCC-1.1 Missense Mutation PLCB1 chr20 8628563 8628563 C A g.8628563C>A ENST00000338037.6 c.481C>A p.Leu161Met missense_variant possibly damaging HCC-1.1 Missense Mutation ARVCF chr22 19978298 19978298 T C g.19978298T>C ENST00000263207.3 c.20A>G p.His7Arg missense_variant benign HCC-1.1 Missense Mutation ZDHHC8 chr22 20130973 20130973 G A g.20130973G>A ENST00000334554.7 c.1820G>A p.Arg607Lys missense_variant benign HCC-1.1 Missense Mutation CCDC54 chr3 107096544 107096544 T C g.107096544T>C ENST00000261058.1 c.110T>C p.Ile37Thr missense_variant benign HCC-1.1 Missense Mutation PHLDB2 chr3 111637975 111637975 A T g.111637975A>T ENST00000393925.3 c.1776A>T p.Glu592Asp missense_variant benign HCC-1.1 Missense Mutation SLC9C1 chr3 111927117 111927117 A T g.111927117A>T ENST00000305815.5 c.1894T>A p.Trp632Arg missense_variant probably damaging HCC-1.1 Missense Mutation KIAA2018 chr3 113375178 113375178 G C g.113375178G>C ENST00000316407.4 c.5351C>G p.Pro1784Arg missense_variant probably damaging HCC-1.1 Missense Mutation PIK3CB chr3 138417861 138417861 T A g.138417861T>A ENST00000289153.2 c.1658A>T p.Asn553Ile missense_variant benign HCC-1.1 Missense Mutation MME chr3 154859862 154859862 A G g.154859862A>G ENST00000360490.2 c.1040A>G p.Tyr347Cys missense_variant possibly damaging HCC-1.1 Missense Mutation SELK chr3 53922492 53922492 C T g.53922492C>T ENST00000488746.1 c.38G>A p.R13Q missense_variant,NMD_transcript_variant benign HCC-1.1 Missense Mutation ADAMTS9 chr3 64580058 64580058 C T g.64580058C>T ENST00000498707.1 c.4232G>A p.Arg1411Gln missense_variant possibly damaging HCC-1.1 Missense Mutation OXTR chr3 8809119 8809119 C G g.8809119C>G ENST00000316793.3 c.755G>C p.Gly252Ala missense_variant benign HCC-1.1 Missense Mutation SLC9B1 chr4 103911049 103911049 A G g.103911049A>G ENST00000296422.7 c.119T>C p.Leu40Ser missense_variant benign HCC-1.1 Missense Mutation FHDC1 chr4 153897081 153897081 G A g.153897081G>A ENST00000260008.3 c.2638G>A p.Ala880Thr missense_variant benign HCC-1.1 Missense Mutation CEP135 chr4 56875992 56875992 G A g.56875992G>A ENST00000257287.4 c.2428G>A p.Gly810Arg missense_variant benign HCC-1.1 Missense Mutation C4orf50 chr4 5990146 5990146 C G g.5990146C>G ENST00000531445.1 c.1353G>C p.E451D missense_variant NA HCC-1.1 Missense Mutation MAN2B2 chr4 6612946 6612946 G A g.6612946G>A ENST00000285599.3 c.2504G>A p.Arg835His missense_variant benign HCC-1.1 Missense Mutation AFAP1 chr4 7770707 7770707 T C g.7770707T>C ENST00000358461.2 c.2030A>G p.Glu677Gly missense_variant possibly damaging HCC-1.1 Missense Mutation BRD8 chr5 137492952 137492952 C T g.137492952C>T ENST00000411594.2 c.2546G>A p.Gly849Glu missense_variant damaging HCC-1.1 Missense Mutation PSD2 chr5 139218278 139218278 C T g.139218278C>T ENST00000274710.3 c.1889C>T p.Pro630Leu missense_variant probably damaging HCC-1.1 Missense Mutation ANKHD1-EIF4EBP3 chr5 139908766 139908766 G A g.139908766G>A ENST00000297183.6 c.6235G>A p.Glu2079Lys missense_variant benign HCC-1.1 Missense Mutation PCDHB16 chr5 140564407 140564407 G A g.140564407G>A ENST00000361016.2 c.2273G>A p.Gly758Asp missense_variant benign HCC-1.1 Missense Mutation ARAP3 chr5 141053263 141053263 C A g.141053263C>A ENST00000239440.4 c.811G>T p.Asp271Tyr missense_variant probably damaging HCC-1.1 Missense Mutation KCTD16 chr5 143853405 143853405 A C g.143853405A>C ENST00000507359.3 c.1015A>C p.Ile339Leu missense_variant benign HCC-1.1 Missense Mutation OR2V2 chr5 180582744 180582744 G A g.180582744G>A ENST00000328275.1 c.802G>A p.Ala268Thr missense_variant benign HCC-1.1 Missense Mutation WDR70 chr5 37697805 37697805 A G g.37697805A>G ENST00000265107.4 c.1141A>G p.Thr381Ala missense_variant probably damaging HCC-1.1 Missense Mutation ZNF131 chr5 43139332 43139332 G A g.43139332G>A ENST00000306938.4 c.292G>A p.Gly98Arg missense_variant probably damaging HCC-1.1 Missense Mutation IPO11 chr5 61832574 61832574 G T g.61832574G>T ENST00000325324.6 c.2135G>T p.Gly712Val missense_variant benign HCC-1.1 Missense Mutation RAD17 chr5 68687768 68687768 G T g.68687768G>T ENST00000380774.3 c.1150G>T p.Val384Phe missense_variant benign HCC-1.1 Missense Mutation WDR41 chr5 76733223 76733223 C T g.76733223C>T ENST00000296679.4 c.1031G>A p.Gly344Asp missense_variant probably damaging HCC-1.1 Missense Mutation ARID1B chr6 157511185 157511185 A G g.157511185A>G ENST00000350026.5 c.3664A>G p.Ser1222Gly missense_variant possibly damaging HCC-1.1 Missense Mutation SYNJ2 chr6 158516682 158516682 G C g.158516682G>C ENST00000355585.4 c.3777G>C p.Gln1259His missense_variant benign HCC-1.1 Missense Mutation TCP10 chr6 167772852 167772852 G A g.167772852G>A ENST00000366827.2 c.838C>T p.R280W missense_variant damaging HCC-1.1 Missense Mutation THBS2 chr6 169632232 169632232 C A g.169632232C>A ENST00000366787.3 c.1994G>T p.Cys665Phe missense_variant probably damaging HCC-1.1 Missense Mutation HIST1H2BC chr6 26123841 26123841 C T g.26123841C>T ENST00000314332.5 c.292G>A p.Ala98Thr missense_variant possibly damaging HCC-1.1 Missense Mutation GPR116 chr6 46851949 46851949 G A g.46851949G>A ENST00000265417.7 c.388C>T p.Arg130Trp missense_variant probably damaging HCC-1.1 Missense Mutation MUT chr6 49415424 49415424 T C g.49415424T>C ENST00000274813.3 c.1519A>G p.Asn507Asp missense_variant possibly damaging HCC-1.1 Missense Mutation ELOVL5 chr6 53156723 53156723 T C g.53156723T>C ENST00000304434.6 c.97A>G p.Ile33Val missense_variant benign HCC-1.1 Missense Mutation MMS22L chr6 97702450 97702450 C G g.97702450C>G ENST00000275053.4 c.1102G>C p.Gly368Arg missense_variant probably damaging HCC-1.1 Missense Mutation CFTR chr7 117176711 117176711 A G g.117176711A>G ENST00000003084.6 c.853A>G p.Ile285Val missense_variant probably damaging HCC-1.1 Missense Mutation KIAA1549 chr7 138601663 138601663 G T g.138601663G>T ENST00000422774.1 c.2709C>A p.Asp903Glu missense_variant benign HCC-1.1 Missense Mutation CLCN1 chr7 143018897 143018897 G A g.143018897G>A ENST00000343257.2 c.652G>A p.Ala218Thr missense_variant probably damaging HCC-1.1 Missense Mutation ZNF777 chr7 149133825 149133825 C T g.149133825C>T ENST00000247930.4 c.1180G>A p.Glu394Lys missense_variant possibly damaging HCC-1.1 Missense Mutation GIMAP8 chr7 150171661 150171661 T G g.150171661T>G ENST00000307271.3 c.1244T>G p.Leu415Arg missense_variant probably damaging HCC-1.1 Missense Mutation CDCA7L chr7 21946229 21946229 G A g.21946229G>A ENST00000406877.3 c.710C>T p.Ser237Leu missense_variant probably damaging HCC-1.1 Missense Mutation GLI3 chr7 42005703 42005703 G A g.42005703G>A ENST00000395925.3 c.2968C>T p.Arg990Cys missense_variant probably damaging HCC-1.1 Missense Mutation VPS37D chr7 73084376 73084376 C T g.73084376C>T ENST00000324941.4 c.337C>T p.His113Tyr missense_variant probably damaging HCC-1.1 Missense Mutation ELN chr7 73462854 73462854 C T g.73462854C>T ENST00000252034.7 c.767C>T p.Ala256Val missense_variant benign HCC-1.1 Missense Mutation CROT chr7 87005011 87005011 A C g.87005011A>C ENST00000331536.3 c.720A>C p.Leu240Phe missense_variant probably damaging HCC-1.1 Missense Mutation TAC1 chr7 97362040 97362040 A G g.97362040A>G ENST00000319273.5 c.116A>G p.Gln39Arg missense_variant benign HCC-1.1 Missense Mutation TRRAP chr7 98609012 98609012 G A g.98609012G>A ENST00000355540.3 c.11062G>A p.Ala3717Thr missense_variant possibly damaging HCC-1.1 Missense Mutation MYC chr8 128750711 128750711 G A g.128750711G>A ENST00000259523.6 c.203G>A p.G68E missense_variant probably damaging HCC-1.1 Missense Mutation PLEC chr8 144999913 144999913 T G g.144999913T>G ENST00000322810.4 c.4595A>C p.Gln1532Pro missense_variant benign HCC-1.1 Missense Mutation PPP1R16A chr8 145725722 145725722 G A g.145725722G>A ENST00000292539.4 c.653G>A p.Arg218Gln missense_variant possibly damaging HCC-1.1 Missense Mutation MCPH1 chr8 6479206 6479206 G C g.6479206G>C ENST00000344683.5 c.2446G>C p.Val816Leu missense_variant benign HCC-1.1 Missense Mutation SULF1 chr8 70498702 70498702 C T g.70498702C>T ENST00000260128.4 c.523C>T p.Arg175Cys missense_variant possibly damaging HCC-1.1 Missense Mutation NCOA2 chr8 71053433 71053433 T C g.71053433T>C ENST00000452400.2 c.3014A>G p.Gln1005Arg missense_variant possibly damaging HCC-1.1 Missense Mutation STK3 chr8 99468075 99468075 A C g.99468075A>C ENST00000419617.2 c.1471T>G p.Phe491Val missense_variant probably damaging HCC-1.1 Missense Mutation BSPRY chr9 116132198 116132198 C T g.116132198C>T ENST00000374183.4 c.985C>T p.Arg329Cys missense_variant probably damaging HCC-1.1 Missense Mutation ABL1 chr9 133760885 133760885 T C g.133760885T>C ENST00000318560.5 c.3208T>C p.Tyr1070His missense_variant probably damaging HCC-1.1 Missense Mutation TLN1 chr9 35717179 35717179 C T g.35717179C>T ENST00000314888.9 c.2422G>A p.Val808Ile missense_variant possibly damaging HCC-1.1 Missense Mutation ZNF484 chr9 95608853 95608853 C G g.95608853C>G ENST00000375495.3 c.2216G>C p.Arg739Thr missense_variant possibly damaging HCC-1.1 Missense Mutation DCAF12L1 chrX 125685459 125685459 C T g.125685459C>T ENST00000371126.1 c.1133G>A p.Arg378Gln missense_variant probably damaging HCC-1.1 Missense Mutation FANCB chrX 14871262 14871262 G A g.14871262G>A ENST00000324138.3 c.1225C>T p.Arg409Trp missense_variant possibly damaging HCC-1.1 Missense Mutation DGAT2L6 chrX 69424299 69424299 C A g.69424299C>A ENST00000333026.3 c.792C>A p.Phe264Leu missense_variant possibly damaging HCC-1.1 Missense Mutation DGAT2L6 chrX 69424300 69424300 C T g.69424300C>T ENST00000333026.3 c.793C>T p.His265Tyr missense_variant benign SNU182 Missense Mutation SORT1 chr1 109898077 109898077 T C g.109898077T>C ENST00000256637.6 c.455A>G p.Lys152Arg missense_variant probably damaging SNU182 Missense Mutation WARS2 chr1 119575758 119575758 C T g.119575758C>T ENST00000235521.4 c.859G>A p.Val287Met missense_variant possibly damaging SNU182 Missense Mutation TAS1R3 chr1 1268034 1268034 T A g.1268034T>A ENST00000339381.5 c.1123T>A p.Cys375Ser missense_variant benign SNU182 Missense Mutation LCE3B chr1 152586537 152586537 C A g.152586537C>A ENST00000335633.1 c.251C>A p.Ala84Asp missense_variant benign SNU182 Missense Mutation NR1I3 chr1 161200610 161200610 G A g.161200610G>A ENST00000367982.4 c.922C>T p.Arg308Trp missense_variant probably damaging SNU182 Missense Mutation C1orf226 chr1 162353370 162353370 T G g.162353370T>G ENST00000458626.2 c.716T>G p.Ile239Ser missense_variant benign SNU182 Missense Mutation NADK chr1 1690636 1690636 C T g.1690636C>T ENST00000344463.4 c.479G>A p.Arg160Gln missense_variant benign SNU182 Missense Mutation TNFSF18 chr1 173010544 173010544 C A g.173010544C>A ENST00000404377.3 c.563G>T p.Gly188Val missense_variant probably damaging SNU182 Missense Mutation ATP13A2 chr1 17320293 17320293 C A g.17320293C>A ENST00000326735.8 c.1580G>T p.Gly527Val missense_variant probably damaging SNU182 Missense Mutation AKR7A2 chr1 19633883 19633883 G A g.19633883G>A ENST00000235835.3 c.613C>T p.Arg205Trp missense_variant probably damaging SNU182 Missense Mutation FAAP20 chr1 2116839 2116839 C T g.2116839C>T NM_001146310.1 c.571G>A p.Gly108Arg missense_variant damaging SNU182 Missense Mutation EIF4G3 chr1 21268475 21268475 A T g.21268475A>T ENST00000264211.8 c.1004T>A p.Ile335Lys missense_variant benign SNU182 Missense Mutation NSL1 chr1 212939560 212939560 A C g.212939560A>C ENST00000422588.2 c.555T>G p.Asp185Glu missense_variant benign SNU182 Missense Mutation OBSCN chr1 228505746 228505746 G A g.228505746G>A ENST00000284548.11 c.14003G>A p.Arg4668Gln missense_variant possibly damaging SNU182 Missense Mutation TRIM67 chr1 231298879 231298879 C T g.231298879C>T ENST00000366652.2 c.164C>T p.Ser55Leu missense_variant benign SNU182 Missense Mutation FAM76A chr1 28059159 28059159 G T g.28059159G>T ENST00000373949.1 c.192G>T p.Leu64Phe missense_variant probably damaging SNU182 Missense Mutation ZBTB8B chr1 32937081 32937081 C T g.32937081C>T ENST00000609129.1 c.856C>T p.Arg286Cys missense_variant,NMD_transcript_variant benign SNU182 Missense Mutation SYNC chr1 33160669 33160669 C T g.33160669C>T ENST00000373484.3 c.1030G>A p.Glu344Lys missense_variant probably damaging SNU182 Missense Mutation SZT2 chr1 43898419 43898419 C T g.43898419C>T ENST00000562955.1 c.5380C>T p.Arg1794Trp missense_variant benign SNU182 Missense Mutation SLC6A9 chr1 44463398 44463398 G A g.44463398G>A ENST00000360584.2 c.1940C>T p.Ala647Val missense_variant possibly damaging SNU182 Missense Mutation NPHP4 chr1 5940293 5940293 G A g.5940293G>A ENST00000378156.4 c.2492C>T p.Pro831Leu missense_variant benign SNU182 Missense Mutation INADL chr1 62545234 62545234 G A g.62545234G>A ENST00000316485.6 c.4238G>A p.Gly1413Asp missense_variant benign SNU182 Missense Mutation ESPN chr1 6501054 6501054 A G g.6501054A>G ENST00000377828.1 c.919A>G p.Thr307Ala missense_variant benign SNU182 Missense Mutation TNNI3K chr1 74902193 74902193 A T g.74902193A>T ENST00000326637.3 c.1861A>T p.Met722Leu missense_variant benign SNU182 Missense Mutation SAMD11 chr1 878397 878397 C T g.878397C>T ENST00000342066.3 c.1523C>T p.Pro508Leu missense_variant probably damaging SNU182 Missense Mutation CDC7 chr1 91989834 91989834 C G g.91989834C>G ENST00000234626.6 c.1567C>G p.His523Asp missense_variant benign SNU182 Missense Mutation CDC7 chr1 91989853 91989853 A G g.91989853A>G ENST00000234626.6 c.1586A>G p.Asn529Ser missense_variant benign SNU182 Missense Mutation RPAP2 chr1 92789369 92789369 C G g.92789369C>G ENST00000610020.1 c.892C>G p.Gln298Glu missense_variant benign SNU182 Missense Mutation EIF3A chr10 120795712 120795712 C A g.120795712C>A ENST00000369144.3 c.3988G>T p.Val1330Phe missense_variant benign SNU182 Missense Mutation WDR11 chr10 122662613 122662613 C T g.122662613C>T ENST00000263461.6 c.2800C>T p.H934Y missense_variant possibly damaging SNU182 Missense Mutation TACC2 chr10 123846489 123846489 C T g.123846489C>T ENST00000334433.3 c.4474C>T p.Pro1492Ser missense_variant benign SNU182 Missense Mutation DMBT1 chr10 124392398 124392398 G A g.124392398G>A ENST00000338354.3 c.6002G>A p.Arg2001His missense_variant probably damaging SNU182 Missense Mutation ADARB2 chr10 1245930 1245930 G A g.1245930G>A ENST00000381312.1 c.1840C>T p.Arg614Trp missense_variant benign SNU182 Missense Mutation BUB3 chr10 124914468 124914468 C T g.124914468C>T ENST00000368858.5 c.35C>T p.Pro12Leu missense_variant benign SNU182 Missense Mutation FAM171A1 chr10 15255915 15255915 C T g.15255915C>T ENST00000378116.4 c.1672G>A p.Gly558Ser missense_variant probably damaging SNU182 Missense Mutation C10orf10 chr10 45472868 45472868 G A g.45472868G>A ENST00000298295.3 c.611C>T p.Ser204Leu missense_variant benign SNU182 Missense Mutation C10orf25 chr10 45496217 45496217 G A g.45496217G>A ENST00000298298.1 c.91C>T p.Arg31Trp missense_variant possibly damaging SNU182 Missense Mutation USP54 chr10 75279567 75279567 G C g.75279567G>C ENST00000339859.4 c.2666C>G p.Ser889Cys missense_variant possibly damaging SNU182 Missense Mutation DYDC2 chr10 82122288 82122288 T C g.82122288T>C ENST00000256039.2 c.89T>C p.Ile30Thr missense_variant probably damaging SNU182 Missense Mutation LDB3 chr10 88451678 88451678 G A g.88451678G>A ENST00000310944.6 c.715G>A p.Val239Ile missense_variant probably damaging SNU182 Missense Mutation FFAR4 chr10 95326911 95326911 G A g.95326911G>A ENST00000371481.4 c.434G>A p.Arg145His missense_variant benign SNU182 Missense Mutation PDLIM1 chr10 97023725 97023725 C A g.97023725C>A ENST00000329399.6 c.429G>T p.Gln143His missense_variant benign SNU182 Missense Mutation BIRC3 chr11 102195289 102195289 G A g.102195289G>A ENST00000263464.3 c.49G>A p.Ala17Thr missense_variant benign SNU182 Missense Mutation BIRC3 chr11 102201880 102201880 G A g.102201880G>A ENST00000263464.3 c.1232G>A p.Arg411Lys missense_variant benign SNU182 Missense Mutation MMP13 chr11 102815029 102815029 C T g.102815029C>T ENST00000260302.3 c.1382G>A p.Arg461His missense_variant probably damaging SNU182 Missense Mutation FDXACB1 chr11 111749730 111749730 G C g.111749730G>C ENST00000260257.4 c.127C>G p.Arg43Gly missense_variant benign SNU182 Missense Mutation PHLDB1 chr11 118502138 118502138 G T g.118502138G>T ENST00000356063.5 c.2042G>T p.Arg681Leu missense_variant probably damaging SNU182 Missense Mutation BCL9L chr11 118773140 118773140 C A g.118773140C>A ENST00000334801.3 c.1312G>T p.Ala438Ser missense_variant benign SNU182 Missense Mutation KIRREL3 chr11 126314897 126314897 C G g.126314897C>G ENST00000525144.2 c.1229G>C p.Arg410Thr missense_variant benign SNU182 Missense Mutation MRGPRX2 chr11 19076997 19076997 C T g.19076997C>T ENST00000329773.2 c.953G>A p.Arg318His missense_variant benign SNU182 Missense Mutation ACCSL chr11 44069729 44069729 C T g.44069729C>T ENST00000378832.1 c.143C>T p.Thr48Met missense_variant benign SNU182 Missense Mutation OR51G1 chr11 4944620 4944620 C T g.4944620C>T ENST00000321961.2 c.950G>A p.Cys317Tyr missense_variant benign SNU182 Missense Mutation LRRC56 chr11 540709 540709 C A g.540709C>A ENST00000270115.7 c.25C>A p.Arg9Ser missense_variant benign SNU182 Missense Mutation SLC22A8 chr11 62782405 62782405 C T g.62782405C>T ENST00000311438.8 c.26G>A p.Arg9His missense_variant possibly damaging SNU182 Missense Mutation MUS81 chr11 65630970 65630970 G A g.65630970G>A ENST00000308110.4 c.836G>A p.Arg279Gln missense_variant benign SNU182 Missense Mutation DCHS1 chr11 6644016 6644016 C T g.6644016C>T ENST00000299441.3 c.8891G>A p.Arg2964His missense_variant probably damaging SNU182 Missense Mutation LOC100506127 chr11 76114991 76114991 A G g.76114991A>G NM_001282456.3 c.670A>G p.M224V missense_variant NA SNU182 Missense Mutation TENM4 chr11 78565310 78565310 G A g.78565310G>A ENST00000278550.7 c.1520C>T p.Ala507Val missense_variant benign SNU182 Missense Mutation GPR83 chr11 94113611 94113611 G A g.94113611G>A ENST00000243673.2 c.976C>T p.Leu326Phe missense_variant possibly damaging SNU182 Missense Mutation STAB2 chr12 104126811 104126811 G A g.104126811G>A ENST00000388887.2 c.5311G>A p.Asp1771Asn missense_variant probably damaging SNU182 Missense Mutation CIT chr12 120159205 120159205 C T g.120159205C>T ENST00000261833.7 c.3515G>A p.Arg1172His missense_variant probably damaging SNU182 Missense Mutation PKP2 chr12 33031341 33031341 C T g.33031341C>T ENST00000070846.6 c.473G>A p.Arg158Lys missense_variant benign SNU182 Missense Mutation KMT2D chr12 49431639 49431639 C T g.49431639C>T ENST00000301067.7 c.9500G>A p.Arg3167Gln missense_variant possibly damaging SNU182 Missense Mutation HOXC9 chr12 54396413 54396413 G T g.54396413G>T ENST00000303450.4 c.738G>T p.Lys246Asn missense_variant probably damaging SNU182 Missense Mutation MARS chr12 57910299 57910299 A C g.57910299A>C ENST00000262027.5 c.2638A>C p.Lys880Gln missense_variant probably damaging SNU182 Missense Mutation PPM1H chr12 63060973 63060973 G T g.63060973G>T ENST00000228705.6 c.1382C>A p.Pro461Gln missense_variant probably damaging SNU182 Missense Mutation MDM2 chr12 69229657 69229657 G C g.69229657G>C ENST00000462284.1 c.733G>C p.Asp245His missense_variant benign SNU182 Missense Mutation CCER1 chr12 91348293 91348293 C A g.91348293C>A ENST00000358859.2 c.227G>T p.Trp76Leu missense_variant probably damaging SNU182 Missense Mutation ERCC5 chr13 103506156 103506156 C T g.103506156C>T ENST00000355739.4 c.314C>T p.Thr105Met missense_variant probably damaging SNU182 Missense Mutation IRS2 chr13 110436831 110436831 T C g.110436831T>C ENST00000375856.3 c.1570A>G p.Ile524Val missense_variant benign SNU182 Missense Mutation F10 chr13 113777191 113777191 G A g.113777191G>A ENST00000375551.3 c.22G>A p.Val8Ile missense_variant benign SNU182 Missense Mutation FLT1 chr13 29008268 29008268 T A g.29008268T>A ENST00000282397.4 c.603A>T p.Glu201Asp missense_variant possibly damaging SNU182 Missense Mutation KPNA3 chr13 50279776 50279776 T A g.50279776T>A ENST00000261667.3 c.1353A>T p.Glu451Asp missense_variant benign SNU182 Missense Mutation LMO7 chr13 76383307 76383307 A G g.76383307A>G ENST00000321797.8 c.1235A>G p.Tyr412Cys missense_variant probably damaging SNU182 Missense Mutation LMO7 chr13 76397999 76397999 C T g.76397999C>T ENST00000321797.8 c.2240C>T p.Ser747Leu missense_variant benign SNU182 Missense Mutation CCDC85C chr14 100070178 100070178 C G g.100070178C>G ENST00000380243.4 c.119G>C p.Gly40Ala missense_variant benign SNU182 Missense Mutation OR4M1 chr14 20248768 20248768 G C g.20248768G>C ENST00000315957.4 c.287G>C p.Gly96Ala missense_variant benign SNU182 Missense Mutation SLC7A8 chr14 23609768 23609768 C T g.23609768C>T ENST00000316902.7 c.700G>A p.Val234Ile missense_variant benign SNU182 Missense Mutation TTC6 chr14 38222324 38222324 A C g.38222324A>C ENST00000553443.1 c.3150A>C p.K1050N missense_variant NA SNU182 Missense Mutation RGS6 chr14 72961864 72961864 A C g.72961864A>C ENST00000355512.6 c.859A>C p.Ile287Leu missense_variant benign SNU182 Missense Mutation LTBP2 chr14 74967636 74967636 G A g.74967636G>A ENST00000261978.4 c.5417C>T p.Pro1806Leu missense_variant benign SNU182 Missense Mutation GOLGA5 chr14 93299632 93299632 G A g.93299632G>A ENST00000163416.2 c.1885G>A p.Ala629Thr missense_variant benign SNU182 Missense Mutation ADAMTS17 chr15 100591810 100591810 C T g.100591810C>T ENST00000268070.4 c.2422G>A p.Gly808Ser missense_variant benign SNU182 Missense Mutation OCA2 chr15 28326993 28326993 G A g.28326993G>A ENST00000353809.5 c.28C>T p.Arg10Trp missense_variant possibly damaging SNU182 Missense Mutation HERC2 chr15 28437229 28437229 T C g.28437229T>C ENST00000261609.7 c.8329A>G p.Met2777Val missense_variant benign SNU182 Missense Mutation BUB1B chr15 40475929 40475929 G C g.40475929G>C ENST00000287598.6 c.596G>C p.Arg199Pro missense_variant probably damaging SNU182 Missense Mutation C15orf62 chr15 41062726 41062726 C A g.41062726C>A ENST00000344320.6 c.33C>A p.Asn11Lys missense_variant benign SNU182 Missense Mutation TRPM7 chr15 50901833 50901833 G A g.50901833G>A ENST00000313478.7 c.2525C>T p.Thr842Met missense_variant probably damaging SNU182 Missense Mutation PAQR5 chr15 69677200 69677200 G A g.69677200G>A ENST00000340965.3 c.364G>A p.Ala122Thr missense_variant probably damaging SNU182 Missense Mutation CSPG4 chr15 75969456 75969456 C T g.75969456C>T ENST00000308508.5 c.5404G>A p.Ala1802Thr missense_variant probably damaging SNU182 Missense Mutation SRRM2 chr16 2817599 2817599 C A g.2817599C>A ENST00000301740.8 c.7070C>A p.Thr2357Asn missense_variant possibly damaging SNU182 Missense Mutation APOBR chr16 28508338 28508338 C T g.28508338C>T ENST00000564831.1 c.1976C>T p.Ala659Val missense_variant benign SNU182 Missense Mutation KIF22 chr16 29811045 29811045 G A g.29811045G>A ENST00000160827.4 c.1087G>A p.Ala363Thr missense_variant possibly damaging SNU182 Missense Mutation FLYWCH1 chr16 2988194 2988194 G A g.2988194G>A ENST00000253928.9 c.1787G>A p.Arg596Gln missense_variant benign SNU182 Missense Mutation CNOT1 chr16 58577363 58577363 A C g.58577363A>C ENST00000441024.2 c.4582T>G p.Cys1528Gly missense_variant damaging SNU182 Missense Mutation CDH5 chr16 66424425 66424425 G A g.66424425G>A ENST00000341529.3 c.901G>A p.Asp301Asn missense_variant benign SNU182 Missense Mutation FUK chr16 70503125 70503125 G A g.70503125G>A ENST00000288078.6 c.854G>A p.Arg285Lys missense_variant benign SNU182 Missense Mutation ZFHX3 chr16 72830313 72830313 T C g.72830313T>C ENST00000268489.5 c.6268A>G p.Met2090Val missense_variant benign SNU182 Missense Mutation ADAMTS18 chr16 77327136 77327136 C T g.77327136C>T ENST00000282849.5 c.3026G>A p.Arg1009Gln missense_variant possibly damaging SNU182 Missense Mutation CHTF18 chr16 842547 842547 G C g.842547G>C ENST00000262315.9 c.1435G>C p.Gly479Arg missense_variant probably damaging SNU182 Missense Mutation SPG7 chr16 89616924 89616924 C G g.89616924C>G ENST00000268704.2 c.1686C>G p.Ile562Met missense_variant possibly damaging SNU182 Missense Mutation NOS2 chr17 26115870 26115870 T C g.26115870T>C ENST00000313735.6 c.283A>G p.Thr95Ala missense_variant benign SNU182 Missense Mutation ATAD5 chr17 29220615 29220615 G C g.29220615G>C ENST00000321990.4 c.4744G>C p.Asp1582His missense_variant possibly damaging SNU182 Missense Mutation OR1A1 chr17 3119512 3119512 T C g.3119512T>C ENST00000304094.1 c.598T>C p.Tyr200His missense_variant benign SNU182 Missense Mutation RAD51D chr17 33428027 33428027 A T g.33428027A>T ENST00000345365.6 c.932T>A p.Ile311Asn missense_variant damaging SNU182 Missense Mutation KRTAP3-2 chr17 39155897 39155897 G T g.39155897G>T ENST00000391587.1 c.209C>A p.Ser70Tyr missense_variant probably damaging SNU182 Missense Mutation STAT5B chr17 40375561 40375561 G A g.40375561G>A ENST00000293328.3 c.389C>T p.Ala130Val missense_variant benign SNU182 Missense Mutation CACNA1G chr17 48696292 48696292 G A g.48696292G>A ENST00000359106.5 c.5704G>A p.Asp1902Asn missense_variant benign SNU182 Missense Mutation MTMR4 chr17 56572418 56572418 C T g.56572418C>T ENST00000323456.5 c.3085G>A p.Glu1029Lys missense_variant probably damaging SNU182 Missense Mutation BPTF chr17 65907629 65907629 G C g.65907629G>C ENST00000321892.4 c.4007G>C p.Gly1336Ala missense_variant benign SNU182 Missense Mutation AMZ2 chr17 66251977 66251977 T C g.66251977T>C ENST00000359904.3 c.887T>C p.Leu296Ser missense_variant probably damaging SNU182 Missense Mutation TP53 chr17 7578205 7578205 C A g.7578205C>A ENST00000269305.4 c.644G>T p.Ser215Ile missense_variant probably damaging SNU182 Missense Mutation ENPP7 chr17 77709092 77709092 G A g.77709092G>A ENST00000328313.5 c.650G>A p.Arg217Gln missense_variant benign SNU182 Missense Mutation ZNF521 chr18 22806812 22806812 G A g.22806812G>A ENST00000361524.3 c.1070C>T p.Thr357Met missense_variant probably damaging SNU182 Missense Mutation RNF152 chr18 59483414 59483414 G A g.59483414G>A ENST00000312828.3 c.283C>T p.Pro95Ser missense_variant probably damaging SNU182 Missense Mutation COL5A3 chr19 10081893 10081893 G T g.10081893G>T ENST00000264828.3 c.3816C>A p.Asp1272Glu missense_variant benign SNU182 Missense Mutation ICAM4 chr19 10398307 10398307 T A g.10398307T>A ENST00000380770.3 c.490T>A p.Leu164Met missense_variant probably damaging SNU182 Missense Mutation TYK2 chr19 10464834 10464834 G T g.10464834G>T ENST00000264818.6 c.2792C>A p.Ala931Asp missense_variant probably damaging SNU182 Missense Mutation RGL3 chr19 11517106 11517106 G T g.11517106G>T ENST00000380456.3 c.985C>A p.Arg329Ser missense_variant benign SNU182 Missense Mutation ZNF433 chr19 12126024 12126024 C G g.12126024C>G ENST00000344980.6 c.1658G>C p.Gly553Ala missense_variant benign SNU182 Missense Mutation MED26 chr19 16687570 16687570 C G g.16687570C>G ENST00000263390.3 c.1071G>C p.Lys357Asn missense_variant benign SNU182 Missense Mutation INSL3 chr19 17932297 17932297 C A g.17932297C>A ENST00000317306.7 c.19G>T p.Ala7Ser missense_variant benign SNU182 Missense Mutation SUGP2 chr19 19120943 19120943 C G g.19120943C>G ENST00000330854.11 c.2059G>C p.Gly687Arg missense_variant,NMD_transcript_variant benign SNU182 Missense Mutation ZNF429 chr19 21719799 21719799 G A g.21719799G>A ENST00000358491.4 c.944G>A p.C315Y missense_variant possibly damaging SNU182 Missense Mutation ZNF829 chr19 37406703 37406703 T C g.37406703T>C ENST00000520965.1 c.154A>G p.Asn52Asp missense_variant NA SNU182 Missense Mutation WDR87 chr19 38385577 38385577 G A g.38385577G>A ENST00000303868.5 c.649C>T p.Leu217Phe missense_variant benign SNU182 Missense Mutation TMEM91 chr19 41888807 41888807 C T g.41888807C>T ENST00000342187.5 c.341C>T p.Ala114Val missense_variant damaging SNU182 Missense Mutation GRIK5 chr19 42557839 42557839 C T g.42557839C>T ENST00000262895.3 c.1184G>A p.Arg395His missense_variant possibly damaging SNU182 Missense Mutation ZNF45 chr19 44418533 44418533 C T g.44418533C>T ENST00000269973.5 c.1055G>A p.Arg352Lys missense_variant probably damaging SNU182 Missense Mutation SIX5 chr19 46269262 46269262 C G g.46269262C>G ENST00000317578.6 c.1717G>C p.Val573Leu missense_variant benign SNU182 Missense Mutation ODF3L2 chr19 474668 474668 G A g.474668G>A ENST00000315489.4 c.80C>T p.Pro27Leu missense_variant benign SNU182 Missense Mutation SLC8A2 chr19 47960367 47960367 T G g.47960367T>G ENST00000236877.6 c.1160A>C p.Glu387Ala missense_variant benign SNU182 Missense Mutation CPT1C chr19 50204051 50204051 C T g.50204051C>T ENST00000323446.5 c.392C>T p.Ser131Phe missense_variant benign SNU182 Missense Mutation NUP62 chr19 50411512 50411512 C T g.50411512C>T ENST00000352066.3 c.1553G>A p.Arg518Gln missense_variant possibly damaging SNU182 Missense Mutation FCAR chr19 55399503 55399503 T C g.55399503T>C ENST00000355524.3 c.491T>C p.Leu164Pro missense_variant benign SNU182 Missense Mutation TNNT1 chr19 55653283 55653283 G A g.55653283G>A ENST00000291901.8 c.134C>T p.Pro45Leu missense_variant possibly damaging SNU182 Missense Mutation HSPBP1 chr19 55790939 55790939 A G g.55790939A>G ENST00000255631.5 c.38T>C p.Leu13Pro missense_variant benign SNU182 Missense Mutation A1BG chr19 58864341 58864341 G A g.58864341G>A ENST00000263100.3 c.293C>T p.Ser98Phe missense_variant benign SNU182 Missense Mutation ACER1 chr19 6306798 6306798 C T g.6306798C>T ENST00000301452.4 c.722G>A p.Arg241His missense_variant benign SNU182 Missense Mutation INSR chr19 7184495 7184495 G A g.7184495G>A ENST00000302850.5 c.806C>T p.Pro269Leu missense_variant probably damaging SNU182 Missense Mutation MUC16 chr19 8962367 8962367 T G g.8962367T>G ENST00000397910.4 c.43332A>C p.Leu14444Phe missense_variant possibly damaging SNU182 Missense Mutation MUC16 chr19 9074697 9074697 G A g.9074697G>A ENST00000397910.4 c.12749C>T p.Thr4250Met missense_variant probably damaging SNU182 Missense Mutation TBC1D8 chr2 101654110 101654110 T C g.101654110T>C ENST00000376840.4 c.1291A>G p.Met431Val missense_variant benign SNU182 Missense Mutation NCK2 chr2 106498104 106498104 C T g.106498104C>T ENST00000233154.4 c.547C>T p.Arg183Cys missense_variant probably damaging SNU182 Missense Mutation LRP1B chr2 141115674 141115674 A T g.141115674A>T ENST00000389484.3 c.11269T>A p.Tyr3757Asn missense_variant benign SNU182 Missense Mutation ITGB6 chr2 160982996 160982996 C T g.160982996C>T ENST00000283249.2 c.1777G>A p.Gly593Arg missense_variant probably damaging SNU182 Missense Mutation XIRP2 chr2 168114834 168114834 G C g.168114834G>C ENST00000409728.1 c.1877G>C p.Arg626Thr missense_variant damaging SNU182 Missense Mutation XIRP2 chr2 168115170 168115170 A G g.168115170A>G ENST00000409728.1 c.2213A>G p.Asn738Ser missense_variant damaging SNU182 Missense Mutation ANKRD44 chr2 197860140 197860140 C T g.197860140C>T NM_001195144.1 c.2794G>A p.Glu907Lys missense_variant benign SNU182 Missense Mutation ABCA12 chr2 215876699 215876699 G T g.215876699G>T ENST00000272895.7 c.2117C>A p.Thr706Lys missense_variant benign SNU182 Missense Mutation CYP27A1 chr2 219677467 219677467 C T g.219677467C>T ENST00000258415.4 c.839C>T p.Ser280Phe missense_variant benign SNU182 Missense Mutation CHPF chr2 220404371 220404371 G A g.220404371G>A ENST00000243776.6 c.2062C>T p.Arg688Cys missense_variant probably damaging SNU182 Missense Mutation MROH2A chr2 234737363 234737363 G A g.234737363G>A NM_001287395.1 c.4243G>A p.Glu1415Lys missense_variant benign SNU182 Missense Mutation C2orf16 chr2 27803593 27803593 G T g.27803593G>T ENST00000408964.2 c.4154G>T p.Trp1385Leu missense_variant benign SNU182 Missense Mutation MEMO1 chr2 32143089 32143089 T C g.32143089T>C ENST00000295065.5 c.343A>G p.Lys115Glu missense_variant benign SNU182 Missense Mutation BIRC6 chr2 32770913 32770913 G A g.32770913G>A ENST00000421745.2 c.12796G>A p.Val4266Met missense_variant benign SNU182 Missense Mutation TRAPPC12 chr2 3392157 3392157 G A g.3392157G>A ENST00000324266.5 c.763G>A p.Gly255Arg missense_variant possibly damaging SNU182 Missense Mutation QPCT chr2 37599900 37599900 T C g.37599900T>C ENST00000338415.3 c.1016T>C p.Leu339Ser missense_variant probably damaging SNU182 Missense Mutation SLC8A1 chr2 40366715 40366715 A T g.40366715A>T ENST00000332839.4 c.2371T>A p.Phe791Ile missense_variant probably damaging SNU182 Missense Mutation SLC3A1 chr2 44507894 44507894 T C g.44507894T>C ENST00000260649.6 c.470T>C p.Ile157Thr missense_variant benign SNU182 Missense Mutation NRXN1 chr2 50318584 50318584 C T g.50318584C>T ENST00000401669.2 c.3595G>A p.Ala1199Thr missense_variant benign SNU182 Missense Mutation RTN4 chr2 55253209 55253209 C T g.55253209C>T ENST00000337526.6 c.2026G>A p.Glu676Lys missense_variant probably damaging SNU182 Missense Mutation ALMS1 chr2 73762067 73762067 T C g.73762067T>C ENST00000264448.6 c.9895T>C p.S3299P missense_variant probably damaging SNU182 Missense Mutation RIN2 chr20 19951554 19951554 A T g.19951554A>T ENST00000255006.6 c.756A>T p.Glu252Asp missense_variant benign SNU182 Missense Mutation C20orf26 chr20 20269367 20269367 G A g.20269367G>A ENST00000245957.5 c.2911G>A p.Asp971Asn missense_variant probably damaging SNU182 Missense Mutation FAM83D chr20 37580996 37580996 C T g.37580996C>T ENST00000217429.4 c.1681C>T p.Arg561Trp missense_variant probably damaging SNU182 Missense Mutation SYS1 chr20 43995722 43995722 A G g.43995722A>G ENST00000243918.5 c.438A>G p.Ile146Met missense_variant probably damaging SNU182 Missense Mutation KCNB1 chr20 47990005 47990005 G A g.47990005G>A ENST00000371741.4 c.2092C>T p.Arg698Trp missense_variant probably damaging SNU182 Missense Mutation ZNF217 chr20 52192835 52192835 G A g.52192835G>A ENST00000302342.3 c.2468C>T p.Pro823Leu missense_variant possibly damaging SNU182 Missense Mutation CHRNA4 chr20 61981625 61981625 T C g.61981625T>C ENST00000370263.4 c.1138A>G p.Ser380Gly missense_variant benign SNU182 Missense Mutation DEFB125 chr20 76978 76978 G A g.76978G>A ENST00000382410.2 c.391G>A p.Glu131Lys missense_variant benign SNU182 Missense Mutation EVA1C chr21 33887314 33887314 C A g.33887314C>A ENST00000300255.2 c.1140C>A p.Asp380Glu missense_variant benign SNU182 Missense Mutation MICAL3 chr22 18355576 18355576 C A g.18355576C>A ENST00000429452.1 c.2550G>T p.Glu850Asp missense_variant benign SNU182 Missense Mutation PRAME chr22 22890916 22890916 G C g.22890916G>C ENST00000398741.1 c.1103C>G p.Pro368Arg missense_variant benign SNU182 Missense Mutation SUSD2 chr22 24581769 24581769 C G g.24581769C>G ENST00000358321.3 c.1211C>G p.Pro404Arg missense_variant probably damaging SNU182 Missense Mutation MYO18B chr22 26164515 26164515 C T g.26164515C>T ENST00000335473.7 c.632C>T p.Pro211Leu missense_variant benign SNU182 Missense Mutation TTC28 chr22 28501530 28501530 G A g.28501530G>A ENST00000397906.2 c.3044C>T p.Thr1015Ile missense_variant possibly damaging SNU182 Missense Mutation LARGE chr22 33828207 33828207 G T g.33828207G>T ENST00000337431.2 c.832C>A p.Leu278Ile missense_variant possibly damaging SNU182 Missense Mutation KCTD17 chr22 37447948 37447948 C A g.37447948C>A ENST00000402077.3 c.169C>A p.Leu57Ile missense_variant probably damaging SNU182 Missense Mutation TRMU chr22 46752791 46752791 G A g.46752791G>A ENST00000290846.4 c.1154G>A p.Arg385Gln missense_variant benign SNU182 Missense Mutation ABI3BP chr3 100605108 100605108 C G g.100605108C>G ENST00000284322.5 c.542G>C p.Cys181Ser missense_variant probably damaging SNU182 Missense Mutation IMPG2 chr3 100976430 100976430 A C g.100976430A>C ENST00000193391.7 c.1096T>G p.Phe366Val missense_variant benign SNU182 Missense Mutation MYLK chr3 123456362 123456362 C T g.123456362C>T ENST00000346322.5 c.617G>A p.Arg206His missense_variant benign SNU182 Missense Mutation ZXDC chr3 126189822 126189822 C T g.126189822C>T ENST00000336332.5 c.1186G>A p.Gly396Arg missense_variant probably damaging SNU182 Missense Mutation COL6A6 chr3 130300462 130300462 C G g.130300462C>G ENST00000358511.6 c.3605C>G p.Thr1202Ser missense_variant benign SNU182 Missense Mutation COL6A6 chr3 130307966 130307966 G T g.130307966G>T ENST00000358511.6 c.4158G>T p.Leu1386Phe missense_variant probably damaging SNU182 Missense Mutation HLTF chr3 148759321 148759321 C T g.148759321C>T ENST00000310053.5 c.2332G>A p.Val778Ile missense_variant probably damaging SNU182 Missense Mutation LXN chr3 158387268 158387268 T A g.158387268T>A ENST00000264265.3 c.324A>T p.Gln108His missense_variant benign SNU182 Missense Mutation YEATS2 chr3 183435451 183435451 C T g.183435451C>T ENST00000305135.5 c.113C>T p.Ala38Val missense_variant benign SNU182 Missense Mutation YEATS2 chr3 183515755 183515755 G A g.183515755G>A ENST00000305135.5 c.3142G>A p.Val1048Ile missense_variant possibly damaging SNU182 Missense Mutation PARL chr3 183551359 183551359 C T g.183551359C>T ENST00000317096.4 c.949G>A p.Ala317Thr missense_variant possibly damaging SNU182 Missense Mutation SGOL1 chr3 20225402 20225402 T C g.20225402T>C ENST00000263753.4 c.118A>G p.Ile40Val missense_variant benign SNU182 Missense Mutation TGM4 chr3 44945414 44945414 C T g.44945414C>T ENST00000296125.4 c.1010C>T p.Pro337Leu missense_variant probably damaging SNU182 Missense Mutation EXOSC7 chr3 45052788 45052788 A T g.45052788A>T ENST00000265564.7 c.833A>T p.Glu278Val missense_variant possibly damaging SNU182 Missense Mutation CCR9 chr3 45943253 45943253 C T g.45943253C>T ENST00000357632.2 c.973C>T p.Arg325Cys missense_variant probably damaging SNU182 Missense Mutation CCRL2 chr3 46450586 46450586 A G g.46450586A>G ENST00000399036.3 c.1016A>G p.Asp339Gly missense_variant benign SNU182 Missense Mutation LTF chr3 46490401 46490401 T C g.46490401T>C ENST00000231751.4 c.1165A>G p.Thr389Ala missense_variant benign SNU182 Missense Mutation PLXNB1 chr3 48455393 48455393 G A g.48455393G>A ENST00000296440.6 c.4297C>T p.His1433Tyr missense_variant benign SNU182 Missense Mutation SLC26A6 chr3 48669381 48669381 C T g.48669381C>T ENST00000383733.3 c.682G>A p.Val228Ile missense_variant benign SNU182 Missense Mutation CDHR4 chr3 49833130 49833130 C T g.49833130C>T ENST00000412678.2 c.778G>A p.Ala260Thr missense_variant probably damaging SNU182 Missense Mutation STAB1 chr3 52555442 52555442 A G g.52555442A>G ENST00000321725.6 c.5974A>G p.Ser1992Gly missense_variant probably damaging SNU182 Missense Mutation LRIG1 chr3 66463303 66463303 C T g.66463303C>T ENST00000273261.3 c.783G>A p.Met261Ile missense_variant benign SNU182 Missense Mutation ZNF717 chr3 75787829 75787829 C G g.75787829C>G ENST00000422325.1 c.945G>C p.Trp315Cys missense_variant possibly damaging SNU182 Missense Mutation PPARGC1A chr4 23803869 23803869 T C g.23803869T>C ENST00000264867.2 c.2119A>G p.Thr707Ala missense_variant benign SNU182 Missense Mutation STX18 chr4 4543589 4543589 G A g.4543589G>A ENST00000306200.2 c.103C>T p.Arg35Trp missense_variant probably damaging SNU182 Missense Mutation ACOX3 chr4 8396462 8396462 C T g.8396462C>T ENST00000356406.5 c.1064G>A p.Arg355His missense_variant probably damaging SNU182 Missense Mutation AFF1 chr4 87968162 87968162 G A g.87968162G>A ENST00000307808.6 c.454G>A p.Gly152Ser missense_variant probably damaging SNU182 Missense Mutation ADAMTS19 chr5 129040065 129040065 G A g.129040065G>A ENST00000274487.4 c.3275G>A p.Arg1092Gln missense_variant probably damaging SNU182 Missense Mutation DNAH5 chr5 13814726 13814726 A T g.13814726A>T ENST00000265104.4 c.7218T>A p.Ser2406Arg missense_variant benign SNU182 Missense Mutation PCDHGB1 chr5 140731511 140731511 G A g.140731511G>A ENST00000523390.1 c.1684G>A p.Ala562Thr missense_variant benign SNU182 Missense Mutation NR3C1 chr5 142779680 142779680 T C g.142779680T>C ENST00000231509.3 c.725A>G p.Asn242Ser missense_variant benign SNU182 Missense Mutation SH3TC2 chr5 148411180 148411180 T C g.148411180T>C ENST00000504690.1 c.1072A>G p.Thr358Ala missense_variant,NMD_transcript_variant benign SNU182 Missense Mutation MYO10 chr5 16670792 16670792 A T g.16670792A>T ENST00000513610.1 c.5726T>A p.Leu1909Gln missense_variant benign SNU182 Missense Mutation TENM2 chr5 167674966 167674966 C T g.167674966C>T NM_001122679.1 c.6995C>T p.Ser2341Leu missense_variant probably damaging SNU182 Missense Mutation C9 chr5 39331846 39331846 G A g.39331846G>A ENST00000263408.4 c.547C>T p.Arg183Trp missense_variant probably damaging SNU182 Missense Mutation VCAN chr5 82786175 82786175 T G g.82786175T>G ENST00000265077.3 c.329T>G p.Val110Gly missense_variant probably damaging SNU182 Missense Mutation GPR98 chr5 90101176 90101176 G A g.90101176G>A ENST00000405460.2 c.14737G>A p.Gly4913Ser missense_variant probably damaging SNU182 Missense Mutation GCM2 chr6 10877586 10877586 C T g.10877586C>T ENST00000379491.4 c.130G>A p.Gly44Ser missense_variant probably damaging SNU182 Missense Mutation NEDD9 chr6 11213879 11213879 C T g.11213879C>T ENST00000379433.5 c.94G>A p.Val32Ile missense_variant probably damaging SNU182 Missense Mutation ROS1 chr6 117609852 117609852 G T g.117609852G>T ENST00000368508.3 c.6847C>A p.Gln2283Lys missense_variant benign SNU182 Missense Mutation CCDC170 chr6 151894510 151894510 T C g.151894510T>C ENST00000239374.7 c.976T>C p.Phe326Leu missense_variant probably damaging SNU182 Missense Mutation IGF2R chr6 160506055 160506055 T C g.160506055T>C ENST00000356956.1 c.6097T>C p.Tyr2033His missense_variant benign SNU182 Missense Mutation MAP3K4 chr6 161512433 161512433 A G g.161512433A>G ENST00000348824.7 c.2996A>G p.Asn999Ser missense_variant benign SNU182 Missense Mutation ATXN1 chr6 16327338 16327338 G A g.16327338G>A ENST00000244769.4 c.1204C>T p.His402Tyr missense_variant possibly damaging SNU182 Missense Mutation PRRC2A chr6 31598926 31598926 C T g.31598926C>T ENST00000376007.4 c.2476C>T p.Pro826Ser missense_variant probably damaging SNU182 Missense Mutation SKIV2L chr6 31933608 31933608 C A g.31933608C>A ENST00000375394.2 c.2020C>A p.Arg674Ser missense_variant probably damaging SNU182 Missense Mutation ETV7 chr6 36343668 36343668 C A g.36343668C>A ENST00000339796.5 c.287G>T p.Arg96Leu missense_variant probably damaging SNU182 Missense Mutation DNAH8 chr6 38942263 38942263 G T g.38942263G>T ENST00000359357.3 c.12141G>T p.K4047N missense_variant probably damaging SNU182 Missense Mutation DNAH8 chr6 38998008 38998008 A G g.38998008A>G ENST00000359357.3 c.13313A>G p.N4438S missense_variant possibly damaging SNU182 Missense Mutation RIMS1 chr6 73043358 73043358 A G g.73043358A>G ENST00000521978.1 c.4186A>G p.Met1396Val missense_variant benign SNU182 Missense Mutation COL12A1 chr6 75825752 75825752 T C g.75825752T>C ENST00000322507.8 c.7541A>G p.Asp2514Gly missense_variant possibly damaging SNU182 Missense Mutation DOPEY1 chr6 83846916 83846916 C T g.83846916C>T ENST00000349129.2 c.3155C>T p.Ser1052Leu missense_variant benign SNU182 Missense Mutation LRCH4 chr7 100173534 100173534 G A g.100173534G>A ENST00000310300.6 c.1736C>T p.Pro579Leu missense_variant probably damaging SNU182 Missense Mutation TSPAN12 chr7 120428802 120428802 C A g.120428802C>A ENST00000222747.3 c.762G>T p.Glu254Asp missense_variant benign SNU182 Missense Mutation INTS1 chr7 1523733 1523733 G A g.1523733G>A ENST00000404767.3 c.3335C>T p.Ala1112Val missense_variant benign SNU182 Missense Mutation PTPRN2 chr7 157387994 157387994 G A g.157387994G>A ENST00000389418.4 c.2432C>T p.Pro811Leu missense_variant probably damaging SNU182 Missense Mutation ELFN1 chr7 1786604 1786604 A T g.1786604A>T ENST00000424383.2 c.2372A>T p.Glu791Val missense_variant benign SNU182 Missense Mutation HOXA10 chr7 27213096 27213096 G A g.27213096G>A ENST00000283921.4 c.830C>T p.Thr277Met missense_variant probably damaging SNU182 Missense Mutation DBNL chr7 44099678 44099678 T C g.44099678T>C ENST00000448521.1 c.1079T>C p.Ile360Thr missense_variant benign SNU182 Missense Mutation IGFBP3 chr7 45954540 45954540 C T g.45954540C>T ENST00000275521.6 c.755G>A p.Arg252His missense_variant probably damaging SNU182 Missense Mutation PHKG1 chr7 56149919 56149919 G T g.56149919G>T ENST00000297373.2 c.575C>A p.Ala192Asp missense_variant probably damaging SNU182 Missense Mutation DMTF1 chr7 86817456 86817456 C G g.86817456C>G ENST00000331242.7 c.1250C>G p.Pro417Arg missense_variant benign SNU182 Missense Mutation LMTK2 chr7 97800901 97800901 G A g.97800901G>A ENST00000297293.5 c.706G>A p.Asp236Asn missense_variant benign SNU182 Missense Mutation BRI3 chr7 97911717 97911717 G A g.97911717G>A ENST00000297290.3 c.197G>A p.Arg66His missense_variant benign SNU182 Missense Mutation ZNF394 chr7 99091180 99091180 G A g.99091180G>A ENST00000337673.6 c.1658C>T p.Ser553Leu missense_variant benign SNU182 Missense Mutation VPS13B chr8 100887797 100887797 A T g.100887797A>T ENST00000358544.2 c.11972A>T p.Lys3991Ile missense_variant probably damaging SNU182 Missense Mutation KLHL38 chr8 124663933 124663933 C T g.124663933C>T ENST00000325995.7 c.1234G>A p.Glu412Lys missense_variant possibly damaging SNU182 Missense Mutation TG chr8 133900745 133900745 G C g.133900745G>C ENST00000220616.4 c.2693G>C p.Cys898Ser missense_variant probably damaging SNU182 Missense Mutation PLEC chr8 144998936 144998936 C T g.144998936C>T ENST00000322810.4 c.5572G>A p.Glu1858Lys missense_variant probably damaging SNU182 Missense Mutation DGAT1 chr8 145542366 145542366 G T g.145542366G>T ENST00000332324.4 c.464C>A p.Ala155Glu missense_variant possibly damaging SNU182 Missense Mutation RAB11FIP1 chr8 37734839 37734839 T C g.37734839T>C ENST00000287263.4 c.602A>G p.Asp201Gly missense_variant probably damaging SNU182 Missense Mutation STAR chr8 38003643 38003643 T A g.38003643T>A ENST00000276449.4 c.488A>T p.Asp163Val missense_variant possibly damaging SNU182 Missense Mutation LETM2 chr8 38260095 38260095 C A g.38260095C>A ENST00000379957.4 c.1037C>A p.Ala346Asp missense_variant probably damaging SNU182 Missense Mutation HOOK3 chr8 42823326 42823326 C T g.42823326C>T ENST00000307602.4 c.1091C>T p.Ala364Val missense_variant benign SNU182 Missense Mutation MRPL15 chr8 55047868 55047868 G T g.55047868G>T ENST00000260102.4 c.25G>T p.Gly9Trp missense_variant probably damaging SNU182 Missense Mutation BHLHE22 chr8 65494011 65494011 G A g.65494011G>A ENST00000321870.1 c.664G>A p.Gly222Ser missense_variant possibly damaging SNU182 Missense Mutation ZFHX4 chr8 77765786 77765786 C T g.77765786C>T ENST00000521891.2 c.6629C>T p.Pro2210Leu missense_variant possibly damaging SNU182 Missense Mutation MTERFD1 chr8 97258582 97258582 T C g.97258582T>C ENST00000287025.3 c.778A>G p.Asn260Asp missense_variant probably damaging SNU182 Missense Mutation GSN chr9 124074728 124074728 G A g.124074728G>A ENST00000373818.4 c.778G>A p.Val260Met missense_variant probably damaging SNU182 Missense Mutation NEK6 chr9 127064230 127064230 G A g.127064230G>A ENST00000373600.3 c.89G>A p.Arg30Lys missense_variant benign SNU182 Missense Mutation FAM73B chr9 131830598 131830598 G C g.131830598G>C ENST00000358369.4 c.1391G>C p.Ser464Thr missense_variant probably damaging SNU182 Missense Mutation MPDZ chr9 13206043 13206043 C T g.13206043C>T ENST00000319217.7 c.1346G>A p.Arg449Gln missense_variant probably damaging SNU182 Missense Mutation PPAPDC3 chr9 134183501 134183501 C T g.134183501C>T ENST00000372264.3 c.643C>T p.Arg215Cys missense_variant probably damaging SNU182 Missense Mutation QSOX2 chr9 139100827 139100827 A G g.139100827A>G ENST00000358701.5 c.1844T>C p.Leu615Pro missense_variant probably damaging SNU182 Missense Mutation TSC22D3 chrX 107018385 107018385 T C g.107018385T>C ENST00000315660.4 c.265A>G p.Ile89Val missense_variant possibly damaging SNU182 Missense Mutation IRS4 chrX 107976253 107976253 G C g.107976253G>C ENST00000372129.2 c.3322C>G p.Leu1108Val missense_variant possibly damaging SNU182 Missense Mutation FMR1 chrX 147024718 147024718 C A g.147024718C>A ENST00000370470.1 c.1343C>A p.Ser448Tyr missense_variant possibly damaging SNU182 Missense Mutation DNASE1L1 chrX 153631495 153631495 C T g.153631495C>T ENST00000014935.3 c.562G>A p.Ala188Thr missense_variant benign SNU182 Missense Mutation RAI2 chrX 17819071 17819071 C T g.17819071C>T ENST00000331511.1 c.1060G>A p.Glu354Lys missense_variant possibly damaging SNU182 Missense Mutation CACNA1F chrX 49068399 49068399 G T g.49068399G>T ENST00000376265.2 c.4092C>A p.Asn1364Lys missense_variant probably damaging SNU182 Missense Mutation PJA1 chrX 68382039 68382039 G T g.68382039G>T ENST00000361478.1 c.1043C>A p.Pro348His missense_variant benign SNU182 Missense Mutation FAM9A chrX 8763165 8763165 T G g.8763165T>G ENST00000381003.3 c.785A>C p.Glu262Ala missense_variant possibly damaging SNU387 Missense Mutation PDE4DIP chr1 144916644 144916644 G A g.144916644G>A ENST00000369349.3 c.1711C>T p.Arg571Cys missense_variant probably damaging SNU387 Missense Mutation OTUD7B chr1 149949406 149949406 G A g.149949406G>A ENST00000369135.4 c.40C>T p.Arg14Cys missense_variant probably damaging SNU387 Missense Mutation HDGF chr1 156713640 156713640 T A g.156713640T>A ENST00000357325.5 c.520A>T p.Asn174Tyr missense_variant benign SNU387 Missense Mutation DUSP27 chr1 167095134 167095134 C T g.167095134C>T ENST00000271385.5 c.766C>T p.Arg256Cys missense_variant probably damaging SNU387 Missense Mutation DUSP27 chr1 167096035 167096035 T C g.167096035T>C ENST00000271385.5 c.1667T>C p.Phe556Ser missense_variant probably damaging SNU387 Missense Mutation CACNA1S chr1 201058502 201058502 G A g.201058502G>A ENST00000362061.3 c.784C>T p.Arg262Trp missense_variant probably damaging SNU387 Missense Mutation URB2 chr1 229773866 229773866 C T g.229773866C>T ENST00000258243.2 c.3506C>T p.Ala1169Val missense_variant benign SNU387 Missense Mutation TRIM67 chr1 231351163 231351163 C T g.231351163C>T ENST00000366653.5 c.2329C>T p.Arg777Trp missense_variant probably damaging SNU387 Missense Mutation KIAA1804 chr1 233514836 233514836 C T g.233514836C>T NM_032435.2 c.2084C>T p.A695V missense_variant benign SNU387 Missense Mutation PGBD2 chr1 249212090 249212090 G A g.249212090G>A ENST00000329291.5 c.1307G>A p.Arg436His missense_variant benign SNU387 Missense Mutation LDLRAP1 chr1 25880491 25880491 C T g.25880491C>T ENST00000374338.4 c.167C>T p.Thr56Met missense_variant probably damaging SNU387 Missense Mutation TTC34 chr1 2704191 2704191 G A g.2704191G>A ENST00000401095.3 c.170C>T p.Ala57Val missense_variant benign SNU387 Missense Mutation CLSPN chr1 36217011 36217011 T C g.36217011T>C ENST00000251195.5 c.1868A>G p.Asp623Gly missense_variant probably damaging SNU387 Missense Mutation ABCA4 chr1 94487460 94487460 G A g.94487460G>A ENST00000370225.3 c.4715C>T p.Thr1572Met missense_variant possibly damaging SNU387 Missense Mutation AGRN chr1 984346 984346 C T g.984346C>T ENST00000379370.2 c.4205C>T p.Ala1402Val missense_variant benign SNU387 Missense Mutation COX15 chr10 101474424 101474424 C T g.101474424C>T ENST00000016171.5 c.1153G>A p.Ala385Thr missense_variant probably damaging SNU387 Missense Mutation C10orf2 chr10 102749487 102749487 T C g.102749487T>C ENST00000311916.2 c.1330T>C p.Phe444Leu missense_variant possibly damaging SNU387 Missense Mutation POLL chr10 103339229 103339229 G C g.103339229G>C ENST00000299206.4 c.1709C>G p.Pro570Arg missense_variant probably damaging SNU387 Missense Mutation C10orf95 chr10 104210275 104210275 G T g.104210275G>T ENST00000239125.1 c.713C>A p.Ala238Glu missense_variant probably damaging SNU387 Missense Mutation CNNM2 chr10 104678650 104678650 C T g.104678650C>T ENST00000369875.3 c.413C>T p.Pro138Leu missense_variant benign SNU387 Missense Mutation OPTN chr10 13178841 13178841 T G g.13178841T>G ENST00000263036.5 c.1709T>G p.Ile570Ser missense_variant probably damaging SNU387 Missense Mutation TTC40 chr10 134698758 134698758 G C g.134698758G>C ENST00000368582.2 c.3476C>G p.Ala1159Gly missense_variant probably damaging SNU387 Missense Mutation TTC40 chr10 134733608 134733608 G C g.134733608G>C ENST00000368582.2 c.1685C>G p.Ala562Gly missense_variant probably damaging SNU387 Missense Mutation MTG1 chr10 135207774 135207774 G A g.135207774G>A ENST00000317502.6 c.50G>A p.Arg17Gln missense_variant probably damaging SNU387 Missense Mutation ARID5B chr10 63845645 63845645 C G g.63845645C>G ENST00000279873.7 c.1384C>G p.Gln462Glu missense_variant possibly damaging SNU387 Missense Mutation ARID5B chr10 63852350 63852350 A G g.63852350A>G ENST00000279873.7 c.3128A>G p.Lys1043Arg missense_variant probably damaging SNU387 Missense Mutation JMJD1C chr10 64950694 64950694 G C g.64950694G>C ENST00000399262.2 c.6251C>G p.Ala2084Gly missense_variant probably damaging SNU387 Missense Mutation KBTBD3 chr11 105924169 105924169 C T g.105924169C>T ENST00000526793.1 c.1247G>A p.Arg416Gln missense_variant benign SNU387 Missense Mutation ZBED5 chr11 10874821 10874821 C T g.10874821C>T ENST00000413761.2 c.1672G>A p.Ala558Thr missense_variant possibly damaging SNU387 Missense Mutation OR8I2 chr11 55861483 55861483 C A g.55861483C>A ENST00000302124.2 c.700C>A p.Gln234Lys missense_variant benign SNU387 Missense Mutation SIPA1 chr11 65408919 65408919 G T g.65408919G>T ENST00000394224.3 c.527G>T p.Gly176Val missense_variant probably damaging SNU387 Missense Mutation RELT chr11 73105653 73105653 T G g.73105653T>G ENST00000064780.2 c.920T>G p.Leu307Arg missense_variant probably damaging SNU387 Missense Mutation PRKRIR chr11 76063836 76063836 C T g.76063836C>T ENST00000260045.3 c.358G>A p.Asp120Asn (Splice) missense_variant,splice_region_variant benign SNU387 Missense Mutation CHORDC1 chr11 89956116 89956116 A T g.89956116A>T ENST00000320585.6 c.7T>A p.Leu3Met missense_variant benign SNU387 Missense Mutation PARPBP chr12 102559648 102559648 A C g.102559648A>C ENST00000358383.5 c.808A>C p.Ile270Leu missense_variant benign SNU387 Missense Mutation MYO1H chr12 109878603 109878603 C T g.109878603C>T ENST00000310903.5 c.2461C>T p.Arg821Cys missense_variant benign SNU387 Missense Mutation TRPV4 chr12 110224548 110224548 G A g.110224548G>A ENST00000261740.2 c.2303C>T p.Ser768Leu missense_variant benign SNU387 Missense Mutation DNAH10 chr12 124387491 124387491 G A g.124387491G>A ENST00000409039.3 c.9292G>A p.Glu3098Lys missense_variant benign SNU387 Missense Mutation ZNF605 chr12 133503746 133503746 C T g.133503746C>T ENST00000360187.4 c.139G>A p.Val47Ile (Splice) missense_variant,splice_region_variant benign SNU387 Missense Mutation ZNF268 chr12 133758590 133758590 A C g.133758590A>C ENST00000228289.5 c.7A>C p.Thr3Pro missense_variant benign SNU387 Missense Mutation MCRS1 chr12 49958647 49958647 G C g.49958647G>C ENST00000343810.4 c.320C>G p.Pro107Arg missense_variant possibly damaging SNU387 Missense Mutation KRT74 chr12 52966242 52966242 C A g.52966242C>A ENST00000305620.2 c.681G>T p.Lys227Asn missense_variant probably damaging SNU387 Missense Mutation SP1 chr12 53776381 53776381 A G g.53776381A>G ENST00000327443.4 c.650A>G p.Asn217Ser missense_variant possibly damaging SNU387 Missense Mutation SMUG1 chr12 54577685 54577685 C T g.54577685C>T ENST00000243112.5 c.40G>A p.Ala14Thr missense_variant benign SNU387 Missense Mutation NEUROD4 chr12 55421178 55421178 C G g.55421178C>G ENST00000242994.3 c.955C>G p.His319Asp missense_variant probably damaging SNU387 Missense Mutation DTX3 chr12 58000975 58000975 G T g.58000975G>T ENST00000337737.3 c.329G>T p.Gly110Val missense_variant possibly damaging SNU387 Missense Mutation VWF chr12 6167131 6167131 G A g.6167131G>A ENST00000261405.5 c.1613C>T p.Pro538Leu missense_variant probably damaging SNU387 Missense Mutation MON2 chr12 62929406 62929406 C T g.62929406C>T ENST00000280379.6 c.1817C>T p.Thr606Ile missense_variant possibly damaging SNU387 Missense Mutation PHLDA1 chr12 76425500 76425500 C G g.76425500C>G ENST00000266671.5 c.22G>C p.Glu8Gln missense_variant probably damaging SNU387 Missense Mutation NAV3 chr12 78400785 78400785 T G g.78400785T>G ENST00000228327.6 c.1467T>G p.Asp489Glu missense_variant benign SNU387 Missense Mutation PZP chr12 9349185 9349185 T C g.9349185T>C ENST00000261336.2 c.964A>G p.Ile322Val missense_variant benign SNU387 Missense Mutation WNK1 chr12 995179 995179 C G g.995179C>G ENST00000315939.6 c.5209C>G p.Pro1737Ala missense_variant benign SNU387 Missense Mutation DCUN1D2 chr13 114112357 114112357 C T g.114112357C>T ENST00000478244.1 c.767G>A p.Arg256His missense_variant benign SNU387 Missense Mutation SUPT16H chr14 21826579 21826579 C T g.21826579C>T ENST00000216297.2 c.2309G>A p.Arg770Gln missense_variant probably damaging SNU387 Missense Mutation KLHDC2 chr14 50246353 50246353 C T g.50246353C>T ENST00000298307.5 c.674C>T p.Thr225Ile missense_variant probably damaging SNU387 Missense Mutation NEMF chr14 50262640 50262640 G T g.50262640G>T ENST00000298310.5 c.2488C>A p.Pro830Thr missense_variant benign SNU387 Missense Mutation PLEKHG3 chr14 65210039 65210039 G T g.65210039G>T ENST00000247226.7 c.3110G>T p.Gly1037Val missense_variant possibly damaging SNU387 Missense Mutation SIPA1L1 chr14 72138332 72138332 T C g.72138332T>C ENST00000358550.2 c.2752T>C p.Tyr918His missense_variant probably damaging SNU387 Missense Mutation SIPA1L1 chr14 72138346 72138346 A T g.72138346A>T ENST00000358550.2 c.2766A>T p.Glu922Asp missense_variant benign SNU387 Missense Mutation RPS6KL1 chr14 75385230 75385230 C T g.75385230C>T ENST00000358328.4 c.469G>A p.G157R missense_variant damaging SNU387 Missense Mutation ZC2HC1C chr14 75537605 75537605 C G g.75537605C>G ENST00000238686.8 c.329C>G p.Ser110Trp missense_variant probably damaging SNU387 Missense Mutation NRDE2 chr14 90755027 90755027 C T g.90755027C>T ENST00000354366.3 c.2692G>A p.Asp898Asn missense_variant benign SNU387 Missense Mutation BTBD7 chr14 93730243 93730243 C T g.93730243C>T ENST00000334746.5 c.1259G>A p.Arg420Gln missense_variant probably damaging SNU387 Missense Mutation AK7 chr14 96944843 96944843 G A g.96944843G>A ENST00000267584.4 c.1597G>A p.Glu533Lys missense_variant benign SNU387 Missense Mutation HERC2 chr15 28473513 28473513 G A g.28473513G>A ENST00000261609.7 c.5315C>T p.Pro1772Leu missense_variant probably damaging SNU387 Missense Mutation RYR3 chr15 33922208 33922208 A C g.33922208A>C ENST00000389232.4 c.2747A>C p.Lys916Thr missense_variant possibly damaging SNU387 Missense Mutation RYR3 chr15 34130218 34130218 T C g.34130218T>C ENST00000389232.4 c.12037T>C p.Cys4013Arg missense_variant benign SNU387 Missense Mutation DLL4 chr15 41223901 41223901 G C g.41223901G>C ENST00000249749.5 c.595G>C p.Val199Leu missense_variant benign SNU387 Missense Mutation MGA chr15 42059452 42059452 G A g.42059452G>A ENST00000219905.7 c.9172G>A p.Ala3058Thr missense_variant benign SNU387 Missense Mutation ZNF735 chr7 63673587 63673587 T G g.63673587T>G NM_001159524.1 c.157T>G p.Phe53Val missense_variant benign SNU387 Missense Mutation CHRNB4 chr15 78917376 78917376 A T g.78917376A>T ENST00000412074.2 c.617T>A p.Val206Glu missense_variant benign SNU387 Missense Mutation UMOD chr16 20355455 20355455 G T g.20355455G>T ENST00000302509.4 c.1222C>A p.Leu408Met missense_variant probably damaging SNU387 Missense Mutation PKD1 chr16 2160828 2160828 G A g.2160828G>A ENST00000262304.4 c.4340C>T p.Ala1447Val missense_variant benign SNU387 Missense Mutation RBBP6 chr16 24582703 24582703 A G g.24582703A>G ENST00000319715.4 c.4316A>G p.Asn1439Ser missense_variant benign SNU387 Missense Mutation ZSCAN10 chr16 3140507 3140507 G A g.3140507G>A ENST00000252463.2 c.763C>T p.Arg255Trp missense_variant benign SNU387 Missense Mutation ITFG3 chr16 314664 314664 C T g.314664C>T ENST00000301678.3 c.1396C>T p.Arg466Cys missense_variant possibly damaging SNU387 Missense Mutation RPGRIP1L chr16 53675253 53675253 C T g.53675253C>T ENST00000262135.4 c.2818G>A p.Glu940Lys missense_variant benign SNU387 Missense Mutation C16orf11 chr16 614807 614807 G A g.614807G>A ENST00000409413.3 c.1216G>A p.Glu406Lys missense_variant benign SNU387 Missense Mutation NFAT5 chr16 69729182 69729182 G T g.69729182G>T ENST00000354436.2 c.4504G>T p.Ala1502Ser missense_variant benign SNU387 Missense Mutation RBFOX1 chr16 7759094 7759094 C T g.7759094C>T ENST00000355637.4 c.1148C>T p.Thr383Met missense_variant probably damaging SNU387 Missense Mutation DNAH9 chr17 11865233 11865233 A T g.11865233A>T ENST00000262442.4 c.12893A>T p.Tyr4298Phe missense_variant benign SNU387 Missense Mutation FOXN1 chr17 26861773 26861773 C T g.26861773C>T ENST00000226247.2 c.1184C>T p.Pro395Leu missense_variant benign SNU387 Missense Mutation NEK8 chr17 27061969 27061969 A G g.27061969A>G ENST00000268766.6 c.433A>G p.Ile145Val missense_variant possibly damaging SNU387 Missense Mutation AARSD1 chr17 41108522 41108522 C G g.41108522C>G ENST00000427569.2 c.445G>C p.E149Q missense_variant possibly damaging SNU387 Missense Mutation MPP3 chr17 41903182 41903182 C T g.41903182C>T ENST00000398389.4 c.551G>A p.Arg184Gln missense_variant probably damaging SNU387 Missense Mutation DCAKD chr17 43101904 43101904 C T g.43101904C>T ENST00000342350.5 c.593G>A p.Arg198His missense_variant benign SNU387 Missense Mutation NFE2L1 chr17 46133815 46133815 A T g.46133815A>T ENST00000357480.5 c.578A>T p.Asp193Val missense_variant benign SNU387 Missense Mutation ITGA3 chr17 48156522 48156522 A C g.48156522A>C ENST00000007722.7 c.2483A>C p.Lys828Thr missense_variant probably damaging SNU387 Missense Mutation TLK2 chr17 60598163 60598163 G C g.60598163G>C ENST00000326270.9 c.111G>C p.Gln37His missense_variant benign SNU387 Missense Mutation KCNH6 chr17 61611299 61611299 G A g.61611299G>A ENST00000314672.5 c.728G>A p.Arg243His missense_variant probably damaging SNU387 Missense Mutation APOH chr17 64216708 64216708 T C g.64216708T>C ENST00000205948.6 c.568A>G p.Thr190Ala missense_variant benign SNU387 Missense Mutation EXOC7 chr17 74093922 74093922 C T g.74093922C>T ENST00000332065.5 c.595G>A p.Val199Ile missense_variant benign SNU387 Missense Mutation RNF213 chr17 78261707 78261707 C T g.78261707C>T ENST00000319921.4 c.355C>T p.His119Tyr missense_variant benign SNU387 Missense Mutation KCNAB3 chr17 7827134 7827134 T C g.7827134T>C ENST00000303790.2 c.943A>G p.Lys315Glu missense_variant probably damaging SNU387 Missense Mutation RNF213 chr17 78321902 78321902 C T g.78321902C>T ENST00000582970.1 c.9767C>T p.Ser3256Leu missense_variant benign SNU387 Missense Mutation ENDOV chr17 78395634 78395634 T A g.78395634T>A ENST00000518137.1 c.235T>A p.Tyr79Asn missense_variant probably damaging SNU387 Missense Mutation GCGR chr17 79771513 79771513 C T g.79771513C>T ENST00000400723.3 c.1382C>T p.Ala461Val missense_variant benign SNU387 Missense Mutation TBCD chr17 80897307 80897307 C T g.80897307C>T ENST00000355528.4 c.3434C>T p.Ala1145Val missense_variant benign SNU387 Missense Mutation B4GALT6 chr18 29246237 29246237 T G g.29246237T>G ENST00000306851.5 c.214A>C p.Ser72Arg missense_variant benign SNU387 Missense Mutation CCBE1 chr18 57133983 57133983 G A g.57133983G>A ENST00000439986.4 c.541C>T p.Pro181Ser missense_variant possibly damaging SNU387 Missense Mutation BST2 chr19 17514551 17514551 G A g.17514551G>A ENST00000252593.6 c.496C>T p.Pro166Ser missense_variant benign SNU387 Missense Mutation MAP1S chr19 17838370 17838370 C T g.17838370C>T ENST00000324096.4 c.2177C>T p.Ala726Val missense_variant benign SNU387 Missense Mutation ZNF568 chr19 37488011 37488011 A G g.37488011A>G ENST00000455427.2 c.1226A>G p.His409Arg missense_variant damaging SNU387 Missense Mutation ZNF569 chr19 37904703 37904703 A G g.37904703A>G ENST00000316950.6 c.857T>C p.Ile286Thr missense_variant benign SNU387 Missense Mutation ZNF793 chr19 38028084 38028084 G A g.38028084G>A ENST00000445217.1 c.524G>A p.Arg175His missense_variant benign SNU387 Missense Mutation NCCRP1 chr19 39691095 39691095 G C g.39691095G>C ENST00000339852.4 c.658G>C p.Gly220Arg missense_variant benign SNU387 Missense Mutation PNMAL2 chr19 46997488 46997488 C G g.46997488C>G ENST00000599531.1 c.1235G>C p.Arg412Pro missense_variant benign SNU387 Missense Mutation NAPSA chr19 50865318 50865318 G A g.50865318G>A ENST00000253719.2 c.257C>T p.Thr86Met missense_variant probably damaging SNU387 Missense Mutation ZNF578 chr19 53015055 53015055 A T g.53015055A>T ENST00000421239.2 c.1421A>T p.Lys474Met missense_variant possibly damaging SNU387 Missense Mutation LILRA4 chr19 54844907 54844907 T C g.54844907T>C ENST00000291759.4 c.1436A>G p.Gln479Arg missense_variant benign SNU387 Missense Mutation FCAR chr19 55399503 55399503 T C g.55399503T>C ENST00000355524.3 c.491T>C p.Leu164Pro missense_variant benign SNU387 Missense Mutation ZNF628 chr19 55995289 55995289 G C g.55995289G>C ENST00000391718.2 c.2717G>C p.Gly910Ala missense_variant probably damaging SNU387 Missense Mutation ZNF543 chr19 57840011 57840011 C A g.57840011C>A ENST00000321545.4 c.1181C>A p.Pro394His missense_variant probably damaging SNU387 Missense Mutation ZNF749 chr19 57955837 57955837 A T g.57955837A>T ENST00000334181.4 c.1321A>T p.Thr441Ser missense_variant benign SNU387 Missense Mutation ZNF749 chr19 57955838 57955838 C T g.57955838C>T ENST00000334181.4 c.1322C>T p.Thr441Ile missense_variant benign SNU387 Missense Mutation MISP chr19 757292 757292 G A g.757292G>A ENST00000215582.6 c.346G>A p.Gly116Arg missense_variant benign SNU387 Missense Mutation MUC16 chr19 9085826 9085826 C T g.9085826C>T ENST00000397910.4 c.5989G>A p.Val1997Met missense_variant possibly damaging SNU387 Missense Mutation REV1 chr2 100055467 100055467 T C g.100055467T>C ENST00000258428.3 c.809A>G p.Asp270Gly missense_variant benign SNU387 Missense Mutation TGFBRAP1 chr2 105897025 105897025 C T g.105897025C>T ENST00000258449.1 c.1277G>A p.Arg426His missense_variant benign SNU387 Missense Mutation NPHP1 chr2 110905597 110905597 G C g.110905597G>C ENST00000393272.3 c.1330C>G p.Arg444Gly missense_variant benign SNU387 Missense Mutation CCDC93 chr2 118732780 118732780 A C g.118732780A>C ENST00000376300.2 c.734T>G p.Leu245Arg missense_variant benign SNU387 Missense Mutation CSRNP3 chr2 166535354 166535354 G T g.166535354G>T ENST00000314499.7 c.849G>T p.Gln283His missense_variant probably damaging SNU387 Missense Mutation LRP2 chr2 170131599 170131599 G A g.170131599G>A ENST00000263816.3 c.1922C>T p.Ala641Val missense_variant benign SNU387 Missense Mutation DLX2 chr2 172965583 172965583 G T g.172965583G>T ENST00000234198.4 c.675C>A p.Ser225Arg missense_variant probably damaging SNU387 Missense Mutation DLX2 chr2 172965584 172965584 C T g.172965584C>T ENST00000234198.4 c.674G>A p.Ser225Asn missense_variant possibly damaging SNU387 Missense Mutation ATP5G3 chr2 176046090 176046090 G A g.176046090G>A ENST00000284727.4 c.32C>T p.Pro11Leu missense_variant benign SNU387 Missense Mutation SSFA2 chr2 182784130 182784130 G A g.182784130G>A ENST00000320370.7 c.3101G>A p.Arg1034His missense_variant probably damaging SNU387 Missense Mutation NT5C1B chr2 18764161 18764161 G A g.18764161G>A ENST00000359846.2 c.1174C>T p.Arg392Trp missense_variant probably damaging SNU387 Missense Mutation PARD3B chr2 205990430 205990430 G A g.205990430G>A ENST00000349953.3 c.1403G>A p.Arg468His missense_variant probably damaging SNU387 Missense Mutation UNC80 chr2 210806056 210806056 T C g.210806056T>C ENST00000439458.1 c.6560T>C p.Met2187Thr missense_variant possibly damaging SNU387 Missense Mutation CPS1 chr2 211441135 211441135 T C g.211441135T>C ENST00000233072.5 c.302T>C p.Ile101Thr missense_variant benign SNU387 Missense Mutation DRC1 chr2 26624883 26624883 C T g.26624883C>T ENST00000288710.2 c.26C>T p.Ala9Val missense_variant benign SNU387 Missense Mutation FOXN2 chr2 48573414 48573414 A G g.48573414A>G ENST00000340553.3 c.61A>G p.Ile21Val missense_variant benign SNU387 Missense Mutation CTNNA2 chr2 79971573 79971573 A G g.79971573A>G ENST00000402739.4 c.163A>G p.Lys55Glu missense_variant probably damaging SNU387 Missense Mutation FAHD2A chr2 96076715 96076715 A G g.96076715A>G ENST00000233379.4 c.626A>G p.Lys209Arg missense_variant probably damaging SNU387 Missense Mutation INPP4A chr2 99198172 99198172 C G g.99198172C>G ENST00000409540.3 c.2818C>G p.Leu940Val missense_variant unknown SNU387 Missense Mutation ZNF341 chr20 32379135 32379135 C T g.32379135C>T ENST00000342427.2 c.2356C>T p.Pro786Ser missense_variant benign SNU387 Missense Mutation KIAA1755 chr20 36846717 36846717 G T g.36846717G>T ENST00000279024.4 c.2608C>A p.Pro870Thr missense_variant probably damaging SNU387 Missense Mutation CD40 chr20 44751392 44751392 A G g.44751392A>G ENST00000372276.3 c.400A>G p.Ile134Val missense_variant benign SNU387 Missense Mutation PREX1 chr20 47244449 47244449 C T g.47244449C>T ENST00000371941.3 c.4819G>A p.Gly1607Arg missense_variant probably damaging SNU387 Missense Mutation FAM65C chr20 49218716 49218716 C T g.49218716C>T ENST00000045083.2 c.1540G>A p.Glu514Lys missense_variant possibly damaging SNU387 Missense Mutation ZFP64 chr20 50769255 50769255 G T g.50769255G>T ENST00000216923.4 c.1476C>A p.Phe492Leu missense_variant benign SNU387 Missense Mutation FERMT1 chr20 6064744 6064744 C T g.6064744C>T ENST00000217289.4 c.1661G>A p.Arg554Gln missense_variant benign SNU387 Missense Mutation LAMA5 chr20 60911479 60911479 C T g.60911479C>T ENST00000252999.3 c.2240G>A p.Arg747Gln missense_variant probably damaging SNU387 Missense Mutation RSPO4 chr20 947828 947828 C A g.947828C>A ENST00000217260.4 c.398G>T p.Arg133Leu missense_variant probably damaging SNU387 Missense Mutation URB1 chr21 33721651 33721651 T C g.33721651T>C ENST00000382751.3 c.2974A>G p.Met992Val missense_variant benign SNU387 Missense Mutation SON chr21 34926321 34926321 C T g.34926321C>T ENST00000290239.6 c.4784C>T p.Ser1595Phe missense_variant possibly damaging SNU387 Missense Mutation TTC3 chr21 38525320 38525320 C G g.38525320C>G ENST00000354749.2 c.2483C>G p.Ala828Gly missense_variant possibly damaging SNU387 Missense Mutation MCM3AP chr21 47664724 47664724 C G g.47664724C>G ENST00000291688.1 c.5035G>C p.Gly1679Arg missense_variant benign SNU387 Missense Mutation ZNRF3 chr22 29445508 29445508 C T g.29445508C>T ENST00000332811.4 c.1039C>T p.Arg447Cys missense_variant probably damaging SNU387 Missense Mutation PRR14L chr22 32110532 32110532 C T g.32110532C>T ENST00000327423.6 c.3293G>A p.Arg1098Gln missense_variant benign SNU387 Missense Mutation MCM5 chr22 35808523 35808523 G A g.35808523G>A ENST00000216122.4 c.940G>A p.Val314Met missense_variant benign SNU387 Missense Mutation SSTR3 chr22 37602809 37602809 G A g.37602809G>A ENST00000328544.3 c.1034C>T p.Pro345Leu missense_variant benign SNU387 Missense Mutation TRIOBP chr22 38131069 38131069 C T g.38131069C>T ENST00000406386.3 c.4726C>T p.Arg1576Cys missense_variant benign SNU387 Missense Mutation POLDIP3 chr22 42998892 42998892 G A g.42998892G>A ENST00000252115.5 c.334C>T p.Arg112Cys missense_variant probably damaging SNU387 Missense Mutation IL17REL chr22 50438379 50438379 A C g.50438379A>C ENST00000341280.5 c.352T>G p.Trp118Gly missense_variant benign SNU387 Missense Mutation TUBGCP6 chr22 50660972 50660972 G A g.50660972G>A ENST00000248846.5 c.2320C>T p.Arg774Trp missense_variant probably damaging SNU387 Missense Mutation BBX chr3 107524238 107524238 C T g.107524238C>T ENST00000416476.2 c.1751C>T p.Ser584Leu missense_variant benign SNU387 Missense Mutation BOC chr3 112998697 112998697 G T g.112998697G>T ENST00000355385.3 c.2047G>T p.Ala683Ser missense_variant probably damaging SNU387 Missense Mutation SIDT1 chr3 113323798 113323798 T A g.113323798T>A ENST00000264852.4 c.1379T>A p.Ile460Asn missense_variant possibly damaging SNU387 Missense Mutation CASR chr3 122002905 122002905 G A g.122002905G>A ENST00000296154.5 c.2104G>A p.Val702Ile missense_variant benign SNU387 Missense Mutation CCDC14 chr3 123634019 123634019 A C g.123634019A>C ENST00000433542.2 c.2346T>G p.Asn782Lys missense_variant benign SNU387 Missense Mutation LRRC34 chr3 169514606 169514606 T C g.169514606T>C ENST00000316515.7 c.700A>G p.Lys234Glu missense_variant possibly damaging SNU387 Missense Mutation PHC3 chr3 169820366 169820366 G A g.169820366G>A ENST00000495893.2 c.2734C>T p.Arg912Trp missense_variant possibly damaging SNU387 Missense Mutation MB21D2 chr3 192517008 192517008 T C g.192517008T>C ENST00000392452.2 c.643A>G p.Lys215Glu missense_variant benign SNU387 Missense Mutation MB21D2 chr3 192517097 192517097 G C g.192517097G>C ENST00000392452.2 c.554C>G p.Ala185Gly missense_variant possibly damaging SNU387 Missense Mutation CNOT10 chr3 32737215 32737215 A T g.32737215A>T ENST00000454516.2 c.98A>T p.K33I missense_variant possibly damaging SNU387 Missense Mutation CNOT10 chr3 32769354 32769354 A C g.32769354A>C ENST00000328834.5 c.1207A>C p.Asn403His missense_variant possibly damaging SNU387 Missense Mutation DLEC1 chr3 38080858 38080858 T C g.38080858T>C ENST00000308059.6 c.142T>C p.Ser48Pro missense_variant benign SNU387 Missense Mutation ULK4 chr3 41290998 41290998 C T g.41290998C>T ENST00000301831.4 c.3746G>A p.Arg1249Gln missense_variant benign SNU387 Missense Mutation GPR62 chr3 51990471 51990471 C G g.51990471C>G ENST00000322241.4 c.803C>G p.Ala268Gly missense_variant benign SNU387 Missense Mutation CFI chr4 110681461 110681461 T C g.110681461T>C ENST00000394634.2 c.848A>G p.Asp283Gly missense_variant probably damaging SNU387 Missense Mutation FAT4 chr4 126336222 126336222 C A g.126336222C>A ENST00000394329.3 c.6104C>A p.Ala2035Asp missense_variant probably damaging SNU387 Missense Mutation PPARGC1A chr4 23803405 23803405 C G g.23803405C>G ENST00000264867.2 c.2241G>C p.Glu747Asp missense_variant benign SNU387 Missense Mutation TLR1 chr4 38799482 38799482 G A g.38799482G>A ENST00000308979.2 c.971C>T p.Ser324Leu missense_variant possibly damaging SNU387 Missense Mutation REST chr4 57796926 57796926 G A g.57796926G>A ENST00000309042.7 c.1902G>A p.Met634Ile missense_variant benign SNU387 Missense Mutation CRMP1 chr4 5862795 5862795 G T g.5862795G>T ENST00000397890.2 c.271C>A p.Gln91Lys missense_variant possibly damaging SNU387 Missense Mutation SLC26A1 chr4 973208 973208 C T g.973208C>T ENST00000398520.2 c.661G>A p.Glu221Lys missense_variant damaging SNU387 Missense Mutation GIN1 chr5 102444299 102444299 C T g.102444299C>T ENST00000399004.2 c.113G>A p.Arg38Lys missense_variant probably damaging SNU387 Missense Mutation C5orf48 chr5 125971850 125971850 A G g.125971850A>G ENST00000357147.3 c.322A>G p.Ile108Val missense_variant benign SNU387 Missense Mutation FER1L5 chr2 97361378 97361378 T C g.97361378T>C NM_001113382.1 c.3955T>C p.Ser1319Pro missense_variant benign SNU387 Missense Mutation PCDHA7 chr5 140214301 140214301 A C g.140214301A>C ENST00000378125.3 c.333A>C p.Glu111Asp missense_variant benign SNU387 Missense Mutation PCDHGC4 chr5 140866476 140866476 C A g.140866476C>A ENST00000306593.1 c.1736C>A p.Ala579Glu missense_variant benign SNU387 Missense Mutation FAM105A chr5 14608984 14608984 C G g.14608984C>G ENST00000274217.3 c.755C>G p.Thr252Ser missense_variant possibly damaging SNU387 Missense Mutation PFN3 chr5 176827340 176827340 C G g.176827340C>G ENST00000358571.2 c.238G>C p.Ala80Pro missense_variant benign SNU387 Missense Mutation TRIM7 chr5 180630502 180630502 C T g.180630502C>T ENST00000334421.5 c.661G>A p.Ala221Thr missense_variant benign SNU387 Missense Mutation DROSHA chr5 31422903 31422903 T C g.31422903T>C ENST00000344624.3 c.3410A>G p.His1137Arg missense_variant benign SNU387 Missense Mutation C5orf42 chr5 37165696 37165696 C T g.37165696C>T ENST00000425232.2 c.7478G>A p.Arg2493Gln missense_variant benign SNU387 Missense Mutation SEPP1 chr5 42804799 42804799 T C g.42804799T>C ENST00000506577.1 c.493A>G p.Ile165Val missense_variant benign SNU387 Missense Mutation MAST4 chr5 66459919 66459919 C T g.66459919C>T ENST00000403625.2 c.4912C>T p.Arg1638Trp missense_variant probably damaging SNU387 Missense Mutation KIAA0825 chr5 93731896 93731896 A C g.93731896A>C ENST00000427991.2 c.3206T>G p.Met1069Arg missense_variant benign SNU387 Missense Mutation ATG5 chr6 106740924 106740924 C A g.106740924C>A ENST00000343245.3 c.294G>T p.Trp98Cys missense_variant probably damaging SNU387 Missense Mutation SLC35D3 chr6 137243772 137243772 C G g.137243772C>G ENST00000331858.4 c.206C>G p.Pro69Arg missense_variant benign SNU387 Missense Mutation GPR126 chr6 142721633 142721633 G T g.142721633G>T ENST00000230173.6 c.1579G>T p.Ala527Ser missense_variant benign SNU387 Missense Mutation ULBP1 chr6 150290430 150290430 C A g.150290430C>A ENST00000229708.3 c.559C>A p.Leu187Met missense_variant benign SNU387 Missense Mutation ERMARD chr6 170155481 170155481 G A g.170155481G>A ENST00000366772.2 c.278G>A p.Arg93Gln missense_variant benign SNU387 Missense Mutation RNF144B chr6 18399832 18399832 G T g.18399832G>T ENST00000259939.3 c.67G>T p.Ala23Ser missense_variant benign SNU387 Missense Mutation RNF144B chr6 18399841 18399841 C T g.18399841C>T ENST00000259939.3 c.76C>T p.Pro26Ser missense_variant benign SNU387 Missense Mutation HIST1H1D chr6 26234725 26234725 G A g.26234725G>A ENST00000244534.5 c.437C>T p.Ala146Val missense_variant benign SNU387 Missense Mutation OR14J1 chr6 29274932 29274932 A T g.29274932A>T ENST00000377160.2 c.466A>T p.Met156Leu missense_variant benign SNU387 Missense Mutation DHX16 chr6 30627936 30627936 C T g.30627936C>T ENST00000376442.3 c.1628G>A p.Arg543Gln missense_variant probably damaging SNU387 Missense Mutation HSPA1B chr6 31795753 31795753 T A g.31795753T>A ENST00000375650.3 c.26T>A p.Ile9Asn missense_variant probably damaging SNU387 Missense Mutation HLA-DQA1 chr6 32609790 32609790 C G g.32609790C>G ENST00000343139.5 c.373C>G p.Leu125Val missense_variant probably damaging SNU387 Missense Mutation ITPR3 chr6 33633665 33633665 A G g.33633665A>G ENST00000374316.5 c.1463A>G p.Asn488Ser missense_variant probably damaging SNU387 Missense Mutation UQCC2 chr6 33679419 33679419 T G g.33679419T>G ENST00000374214.3 c.45A>C p.Glu15Asp missense_variant probably damaging SNU387 Missense Mutation GRM4 chr6 34122878 34122878 C T g.34122878C>T ENST00000374177.3 c.290G>A p.C97Y missense_variant NA SNU387 Missense Mutation FGD2 chr6 36979512 36979512 C T g.36979512C>T ENST00000274963.8 c.409C>T p.Arg137Cys missense_variant probably damaging SNU387 Missense Mutation DNAH8 chr6 38702364 38702364 G A g.38702364G>A ENST00000359357.3 c.74G>A p.R25H missense_variant possibly damaging SNU387 Missense Mutation HSP90AB1 chr6 44220960 44220960 C T g.44220960C>T ENST00000353801.3 c.1910C>T p.Thr637Met missense_variant possibly damaging SNU387 Missense Mutation PPP1R3G chr6 5085859 5085859 C T g.5085859C>T ENST00000405617.2 c.140C>T p.Thr47Ile missense_variant benign SNU387 Missense Mutation PKHD1 chr6 51921747 51921747 A T g.51921747A>T ENST00000340994.4 c.1543T>A p.Phe515Ile missense_variant benign SNU387 Missense Mutation ICK chr6 52883264 52883264 T C g.52883264T>C ENST00000350082.5 c.527A>G p.Asn176Ser missense_variant benign SNU387 Missense Mutation CD109 chr6 74446145 74446145 C G g.74446145C>G ENST00000287097.5 c.547C>G p.Gln183Glu missense_variant benign SNU387 Missense Mutation MDN1 chr6 90395651 90395651 G C g.90395651G>C ENST00000369393.3 c.11614C>G p.Gln3872Glu missense_variant probably damaging SNU387 Missense Mutation BACH2 chr6 90661155 90661155 C T g.90661155C>T ENST00000257749.4 c.670G>A p.Ala224Thr missense_variant benign SNU387 Missense Mutation MUC17 chr7 100685489 100685489 A T g.100685489A>T ENST00000306151.4 c.10792A>T p.Thr3598Ser missense_variant possibly damaging SNU387 Missense Mutation KIAA1147 chr7 141362460 141362460 G A g.141362460G>A ENST00000536163.1 c.1364C>T p.Pro455Leu missense_variant benign SNU387 Missense Mutation DNAH11 chr7 21827067 21827067 C T g.21827067C>T ENST00000409508.3 c.9790C>T p.Pro3264Ser missense_variant probably damaging SNU387 Missense Mutation NFE2L3 chr7 26224420 26224420 G A g.26224420G>A ENST00000056233.3 c.1102G>A p.Val368Ile missense_variant benign SNU387 Missense Mutation ZP3 chr7 76069812 76069812 C T g.76069812C>T ENST00000394857.3 c.944C>T p.Ser315Leu missense_variant benign SNU387 Missense Mutation HGF chr7 81392045 81392045 T G g.81392045T>G ENST00000222390.5 c.232A>C p.Lys78Gln missense_variant benign SNU387 Missense Mutation SAMD9 chr7 92733649 92733649 C A g.92733649C>A ENST00000379958.2 c.1762G>T p.Asp588Tyr missense_variant probably damaging SNU387 Missense Mutation HEPACAM2 chr7 92826855 92826855 A G g.92826855A>G ENST00000394468.2 c.1081T>C p.Phe361Leu missense_variant benign SNU387 Missense Mutation DLX6 chr7 96639226 96639226 C T g.96639226C>T ENST00000518156.2 c.749C>T p.Ala250Val missense_variant possibly damaging SNU387 Missense Mutation ZNF655 chr7 99171018 99171018 G A g.99171018G>A ENST00000252713.4 c.1287G>A p.Met429Ile missense_variant benign SNU387 Missense Mutation PRSS55 chr8 10388820 10388820 T A g.10388820T>A ENST00000328655.3 c.363T>A p.Ser121Arg missense_variant benign SNU387 Missense Mutation DEPTOR chr8 121013883 121013883 C A g.121013883C>A ENST00000286234.5 c.724C>A p.His242Asn missense_variant benign SNU387 Missense Mutation ZHX2 chr8 123963856 123963856 G A g.123963856G>A ENST00000314393.4 c.106G>A p.Gly36Ser missense_variant benign SNU387 Missense Mutation WISP1 chr8 134232923 134232923 C T g.134232923C>T ENST00000250160.6 c.449C>T p.Ala150Val missense_variant probably damaging SNU387 Missense Mutation DENND3 chr8 142204190 142204190 T C g.142204190T>C ENST00000262585.2 c.3455T>C p.Ile1152Thr missense_variant possibly damaging SNU387 Missense Mutation GPR20 chr8 142367219 142367219 C T g.142367219C>T ENST00000377741.3 c.805G>A p.Asp269Asn missense_variant benign SNU387 Missense Mutation ZC3H3 chr8 144620254 144620254 T C g.144620254T>C ENST00000262577.5 c.1283A>G p.Lys428Arg missense_variant benign SNU387 Missense Mutation ZNF707 chr8 144776062 144776062 C T g.144776062C>T ENST00000358656.4 c.478C>T p.Arg160Trp missense_variant probably damaging SNU387 Missense Mutation MAF1 chr8 145161333 145161333 G A g.145161333G>A ENST00000322428.5 c.466G>A p.Glu156Lys missense_variant benign SNU387 Missense Mutation ZNF251 chr8 145948764 145948764 G C g.145948764G>C ENST00000292562.7 c.281C>G p.Ser94Cys missense_variant benign SNU387 Missense Mutation CCAR2 chr8 22473396 22473396 C G g.22473396C>G ENST00000308511.4 c.1579C>G p.Arg527Gly missense_variant probably damaging SNU387 Missense Mutation TNFRSF10A chr8 23082543 23082543 C A g.23082543C>A ENST00000221132.3 c.32G>T p.Gly11Val missense_variant probably damaging SNU387 Missense Mutation PURG chr8 30889677 30889677 T C g.30889677T>C ENST00000339382.2 c.622A>G p.Met208Val missense_variant benign SNU387 Missense Mutation IKBKB chr8 42174328 42174328 C T g.42174328C>T ENST00000520655.1 c.1031C>T p.Thr344Met missense_variant,NMD_transcript_variant probably damaging SNU387 Missense Mutation LY96 chr8 74941234 74941234 A C g.74941234A>C ENST00000284818.2 c.428A>C p.Glu143Ala missense_variant probably damaging SNU387 Missense Mutation CNGB3 chr8 87680387 87680387 G A g.87680387G>A ENST00000320005.5 c.503C>T p.Thr168Met missense_variant probably damaging SNU387 Missense Mutation IKBKAP chr9 111662583 111662583 C T g.111662583C>T ENST00000374647.5 c.2087G>A p.Arg696Gln missense_variant probably damaging SNU387 Missense Mutation PAPPA chr9 118997457 118997457 G A g.118997457G>A ENST00000328252.3 c.2273G>A p.Arg758His missense_variant benign SNU387 Missense Mutation ANAPC2 chr9 140069770 140069770 G T g.140069770G>T ENST00000323927.2 c.2175C>A p.Asp725Glu missense_variant benign SNU387 Missense Mutation TRPM6 chr9 77377839 77377839 G T g.77377839G>T ENST00000360774.1 c.3748C>A p.Pro1250Thr missense_variant benign SNU387 Missense Mutation SSPO chr7 149521488 149521488 C G g.149521488C>G NM_198455.2 c.13581C>G p.Leu4523Val missense_variant probably damaging SNU387 Missense Mutation ENOX2 chrX 129771290 129771290 T G g.129771290T>G ENST00000338144.3 c.1311A>C p.Gln437His missense_variant probably damaging SNU387 Missense Mutation TMEM257 chrX 144909481 144909481 T C g.144909481T>C ENST00000408967.2 c.286T>C p.Ser96Pro missense_variant benign SNU387 Missense Mutation NHS chrX 17744345 17744345 G T g.17744345G>T ENST00000380060.3 c.2056G>T p.Ala686Ser missense_variant probably damaging SNU387 Missense Mutation PTCHD1 chrX 23412238 23412238 T C g.23412238T>C ENST00000379361.4 c.2603T>C p.Ile868Thr missense_variant possibly damaging SNU398 Missense Mutation FRRS1 chr1 100181170 100181170 G C g.100181170G>C ENST00000287474.5 c.1295C>G p.Pro432Arg missense_variant probably damaging SNU398 Missense Mutation CLCN6 chr1 11889290 11889290 G A g.11889290G>A ENST00000346436.6 c.1159G>A p.Val387Met missense_variant possibly damaging SNU398 Missense Mutation PRDM2 chr1 14108437 14108437 G A g.14108437G>A ENST00000235372.7 c.4147G>A p.Val1383Met missense_variant probably damaging SNU398 Missense Mutation ANKRD35 chr1 145562029 145562029 G A g.145562029G>A ENST00000355594.4 c.1717G>A p.Ala573Thr missense_variant benign SNU398 Missense Mutation POLR3C chr1 145608572 145608572 A T g.145608572A>T ENST00000334163.3 c.235T>A p.Cys79Ser missense_variant benign SNU398 Missense Mutation BOLA1 chr1 149871937 149871937 C G g.149871937C>G ENST00000369150.1 c.325C>G p.Arg109Gly missense_variant possibly damaging SNU398 Missense Mutation SLC27A3 chr1 153750994 153750994 G A g.153750994G>A ENST00000368661.3 c.1553G>A p.Arg518Gln missense_variant probably damaging SNU398 Missense Mutation GON4L chr1 155735220 155735220 G C g.155735220G>C ENST00000271883.5 c.4044C>G p.Ile1348Met missense_variant possibly damaging SNU398 Missense Mutation MEF2D chr1 156437790 156437790 T C g.156437790T>C ENST00000348159.4 c.1549A>G p.Thr517Ala missense_variant benign SNU398 Missense Mutation NTRK1 chr1 156851255 156851255 G A g.156851255G>A ENST00000524377.1 c.2212G>A p.Asp738Asn missense_variant benign SNU398 Missense Mutation CD5L chr1 157803222 157803222 A C g.157803222A>C ENST00000368174.4 c.799T>G p.Ser267Ala missense_variant possibly damaging SNU398 Missense Mutation ATP1A4 chr1 160121869 160121869 T A g.160121869T>A ENST00000368081.4 c.39T>A p.His13Gln missense_variant benign SNU398 Missense Mutation COPA chr1 160260301 160260301 T C g.160260301T>C ENST00000241704.7 c.3596A>G p.Gln1199Arg missense_variant benign SNU398 Missense Mutation ADCY10 chr1 167847771 167847771 T C g.167847771T>C ENST00000367851.4 c.1319A>G p.Tyr440Cys missense_variant probably damaging SNU398 Missense Mutation RC3H1 chr1 173934064 173934064 C T g.173934064C>T ENST00000258349.4 c.1529G>A p.Arg510Gln missense_variant probably damaging SNU398 Missense Mutation PAPPA2 chr1 176526264 176526264 G A g.176526264G>A ENST00000367661.3 c.806G>A p.Arg269Gln missense_variant possibly damaging SNU398 Missense Mutation ASTN1 chr1 177133577 177133577 A G g.177133577A>G ENST00000361833.2 c.236T>C p.Val79Ala missense_variant benign SNU398 Missense Mutation LAMC1 chr1 183083801 183083801 T A g.183083801T>A ENST00000258341.4 c.1157T>A p.Phe386Tyr missense_variant benign SNU398 Missense Mutation LAMC2 chr1 183194828 183194828 C T g.183194828C>T ENST00000264144.4 c.1039C>T p.Arg347Cys missense_variant probably damaging SNU398 Missense Mutation HMCN1 chr1 186031042 186031042 G A g.186031042G>A ENST00000271588.4 c.7372G>A p.Val2458Ile missense_variant benign SNU398 Missense Mutation IGFN1 chr1 201196334 201196334 T C g.201196334T>C ENST00000335211.4 c.11111T>C p.Ile3704Thr (Splice) missense_variant,splice_region_variant benign SNU398 Missense Mutation CR1L chr1 207850773 207850773 C T g.207850773C>T ENST00000508064.2 c.137C>T p.Pro46Leu missense_variant benign SNU398 Missense Mutation PTPN14 chr1 214557892 214557892 C T g.214557892C>T ENST00000366956.5 c.1306G>A p.Val436Met missense_variant probably damaging SNU398 Missense Mutation OBSCN chr1 228447336 228447336 C A g.228447336C>A ENST00000570156.2 c.4996C>A p.L1666M missense_variant NA SNU398 Missense Mutation ASAP3 chr1 23777981 23777981 T C g.23777981T>C ENST00000336689.3 c.464A>G p.Glu155Gly missense_variant probably damaging SNU398 Missense Mutation NLRP3 chr1 247586640 247586640 A G g.247586640A>G ENST00000336119.3 c.392A>G p.Lys131Arg missense_variant benign SNU398 Missense Mutation NLRP3 chr1 247607371 247607371 A G g.247607371A>G ENST00000336119.3 c.2767A>G p.Thr923Ala missense_variant benign SNU398 Missense Mutation CATSPER4 chr1 26526545 26526545 G T g.26526545G>T ENST00000338855.2 c.983G>T p.Ser328Ile missense_variant possibly damaging SNU398 Missense Mutation MED18 chr1 28661075 28661075 G A g.28661075G>A ENST00000373842.4 c.221G>A p.Arg74His missense_variant benign SNU398 Missense Mutation PTPRU chr1 29650270 29650270 G A g.29650270G>A ENST00000345512.3 c.4112G>A p.Ser1371Asn missense_variant benign SNU398 Missense Mutation KIAA0754 chr1 39878168 39878168 C T g.39878168C>T NM_015038.1 c.2231C>T p.Pro608Leu missense_variant probably damaging SNU398 Missense Mutation TTC4 chr1 55197355 55197355 C T g.55197355C>T ENST00000371281.3 c.878C>T p.Ala293Val missense_variant probably damaging SNU398 Missense Mutation INADL chr1 62574133 62574133 T C g.62574133T>C ENST00000371158.2 c.4402T>C p.Tyr1468His missense_variant benign SNU398 Missense Mutation TGFBR3 chr1 92200389 92200389 A G g.92200389A>G ENST00000212355.4 c.512T>C p.Val171Ala missense_variant probably damaging SNU398 Missense Mutation ABCA4 chr1 94528729 94528729 C T g.94528729C>T ENST00000370225.3 c.1699G>A p.Val567Met missense_variant possibly damaging SNU398 Missense Mutation DPYD chr1 98060663 98060663 A G g.98060663A>G ENST00000370192.3 c.910T>C p.Tyr304His missense_variant probably damaging SNU398 Missense Mutation NDUFB8 chr10 102286185 102286185 C T g.102286185C>T ENST00000299166.4 c.439G>A p.Gly147Arg missense_variant probably damaging SNU398 Missense Mutation PDCD11 chr10 105182885 105182885 C T g.105182885C>T ENST00000369797.3 c.2638C>T p.His880Tyr missense_variant probably damaging SNU398 Missense Mutation SLC18A2 chr10 119013996 119013996 A T g.119013996A>T ENST00000298472.5 c.688A>T p.Met230Leu missense_variant benign SNU398 Missense Mutation PRTFDC1 chr10 25138812 25138812 G A g.25138812G>A ENST00000376378.1 c.562C>T p.Arg188Cys missense_variant benign SNU398 Missense Mutation ZFAND4 chr10 46135377 46135377 C G g.46135377C>G ENST00000344646.5 c.604G>C p.Asp202His missense_variant probably damaging SNU398 Missense Mutation UCN3 chr10 5415879 5415879 G A g.5415879G>A ENST00000380433.3 c.196G>A p.Asp66Asn missense_variant benign SNU398 Missense Mutation ADO chr10 64565619 64565619 A C g.64565619A>C ENST00000373783.1 c.800A>C p.Lys267Thr missense_variant benign SNU398 Missense Mutation JMJD1C chr10 64967851 64967851 G T g.64967851G>T ENST00000399262.2 c.3578C>A p.Ser1193Tyr missense_variant probably damaging SNU398 Missense Mutation DNAJC12 chr10 69565361 69565361 G A g.69565361G>A ENST00000225171.2 c.482C>T p.Pro161Leu missense_variant possibly damaging SNU398 Missense Mutation ADAMTS14 chr10 72509640 72509640 C T g.72509640C>T ENST00000373207.1 c.2326C>T p.Arg776Trp missense_variant probably damaging SNU398 Missense Mutation MMRN2 chr10 88702538 88702538 G A g.88702538G>A ENST00000372027.5 c.2003C>T p.Ala668Val missense_variant benign SNU398 Missense Mutation TMPRSS13 chr11 117780594 117780594 C T g.117780594C>T ENST00000430170.2 c.1036G>A p.Gly346Ser missense_variant benign SNU398 Missense Mutation TREH chr11 118532636 118532636 T A g.118532636T>A ENST00000264029.4 c.487A>T p.I163F missense_variant probably damaging SNU398 Missense Mutation CBL chr11 119155706 119155706 A G g.119155706A>G ENST00000264033.4 c.1459A>G p.Met487Val missense_variant benign SNU398 Missense Mutation MICAL2 chr11 12243257 12243257 G A g.12243257G>A ENST00000256194.4 c.1273G>A p.Val425Met missense_variant probably damaging SNU398 Missense Mutation PRDM10 chr11 129795006 129795006 C T g.129795006C>T ENST00000360871.3 c.1649G>A p.Arg550Gln missense_variant probably damaging SNU398 Missense Mutation PIK3C2A chr11 17156459 17156459 C T g.17156459C>T ENST00000265970.7 c.2015G>A p.Ser672Asn missense_variant benign SNU398 Missense Mutation ABCC8 chr11 17491753 17491753 G A g.17491753G>A ENST00000302539.4 c.307C>T p.His103Tyr missense_variant possibly damaging SNU398 Missense Mutation OTOG chr11 17591813 17591813 G A g.17591813G>A ENST00000399397.1 c.1648G>A p.Val623Met missense_variant NA SNU398 Missense Mutation ZDHHC13 chr11 19187912 19187912 T A g.19187912T>A ENST00000446113.2 c.1454T>A p.Ile485Asn missense_variant benign SNU398 Missense Mutation OR4P4 chr11 55405958 55405958 T C g.55405958T>C ENST00000314612.2 c.125T>C p.Leu42Pro missense_variant probably damaging SNU398 Missense Mutation OR8H2 chr11 55873438 55873438 G A g.55873438G>A ENST00000313503.1 c.920G>A p.Arg307Lys missense_variant benign SNU398 Missense Mutation FAM160A2 chr11 6233089 6233089 G A g.6233089G>A ENST00000449352.2 c.2566C>T p.Arg856Trp missense_variant probably damaging SNU398 Missense Mutation C11orf84 chr11 63585444 63585444 C T g.63585444C>T ENST00000294244.4 c.295C>T p.Arg99Trp missense_variant probably damaging SNU398 Missense Mutation FERMT3 chr11 63978556 63978556 C T g.63978556C>T ENST00000279227.5 c.427C>T p.Arg143Trp missense_variant probably damaging SNU398 Missense Mutation PTPRCAP chr11 67203590 67203590 G A g.67203590G>A ENST00000326294.3 c.235C>T p.Arg79Trp missense_variant probably damaging SNU398 Missense Mutation DGAT2 chr11 75480116 75480116 A G g.75480116A>G ENST00000228027.7 c.80A>G p.His27Arg missense_variant benign SNU398 Missense Mutation FAM76B chr11 95512053 95512053 T C g.95512053T>C ENST00000358780.5 c.761A>G p.Glu254Gly missense_variant benign SNU398 Missense Mutation GNPTAB chr12 102158179 102158179 A G g.102158179A>G ENST00000299314.7 c.2516T>C p.Ile839Thr missense_variant benign SNU398 Missense Mutation FAM222A chr12 110206293 110206293 C T g.110206293C>T ENST00000358906.3 c.559C>T p.Arg187Trp missense_variant probably damaging SNU398 Missense Mutation MED13L chr12 116424079 116424079 C T g.116424079C>T ENST00000281928.3 c.4330G>A p.Val1444Ile missense_variant probably damaging SNU398 Missense Mutation WSB2 chr12 118490193 118490193 G T g.118490193G>T ENST00000315436.3 c.104C>A p.Ser35Tyr missense_variant possibly damaging SNU398 Missense Mutation OASL chr12 121471285 121471285 C A g.121471285C>A ENST00000257570.5 c.460G>T p.Val154Leu missense_variant benign SNU398 Missense Mutation DHX37 chr12 125459990 125459990 C T g.125459990C>T ENST00000308736.2 c.955G>A p.Ala319Thr missense_variant probably damaging SNU398 Missense Mutation GOLGA3 chr12 133349701 133349701 G A g.133349701G>A ENST00000204726.3 c.4487C>T p.Pro1496Leu missense_variant benign SNU398 Missense Mutation MUC19 chr12 40839409 40839409 T A g.40839409T>A ENST00000454784.4 c.2946T>A p.D982E missense_variant NA SNU398 Missense Mutation PUS7L chr12 44149008 44149008 A G g.44149008A>G ENST00000344862.5 c.41T>C p.Leu14Ser missense_variant probably damaging SNU398 Missense Mutation FAM186A chr12 50747328 50747328 C T g.50747328C>T ENST00000327337.5 c.3287G>A p.Gly1096Glu missense_variant possibly damaging SNU398 Missense Mutation SLC4A8 chr12 51879639 51879639 G T g.51879639G>T ENST00000453097.2 c.2241G>T p.Leu747Phe missense_variant benign SNU398 Missense Mutation KRT71 chr12 52946602 52946602 A C g.52946602A>C ENST00000267119.5 c.260T>G p.Val87Gly missense_variant benign SNU398 Missense Mutation KRT72 chr12 52986253 52986253 T C g.52986253T>C ENST00000293745.2 c.725A>G p.Asn242Ser missense_variant benign SNU398 Missense Mutation IGFBP6 chr12 53491827 53491827 C A g.53491827C>A ENST00000301464.3 c.326C>A p.Ala109Glu missense_variant possibly damaging SNU398 Missense Mutation BAZ2A chr12 56997420 56997420 A G g.56997420A>G ENST00000551812.1 c.3109T>C p.Cys1037Arg missense_variant benign SNU398 Missense Mutation NUP107 chr12 69107569 69107569 G A g.69107569G>A ENST00000229179.4 c.950G>A p.Arg317His missense_variant probably damaging SNU398 Missense Mutation APAF1 chr12 99117426 99117426 A G g.99117426A>G ENST00000551964.1 c.3214A>G p.Ile1072Val missense_variant benign SNU398 Missense Mutation BRCA2 chr13 32953616 32953616 C T g.32953616C>T ENST00000380152.3 c.8917C>T p.Arg2973Cys missense_variant probably damaging SNU398 Missense Mutation PCDH20 chr13 61985414 61985414 T C g.61985414T>C ENST00000409186.1 c.2818A>G p.Met940Val missense_variant benign SNU398 Missense Mutation CKB chr14 103986527 103986527 G A g.103986527G>A ENST00000348956.2 c.899C>T p.Pro300Leu missense_variant possibly damaging SNU398 Missense Mutation EDDM3A chr14 21216143 21216143 A T g.21216143A>T ENST00000326842.2 c.404A>T p.Asn135Ile missense_variant benign SNU398 Missense Mutation OR5AU1 chr14 21623220 21623220 T C g.21623220T>C ENST00000304418.3 c.965A>G p.Asp322Gly missense_variant probably damaging SNU398 Missense Mutation CTAGE5 chr14 39796151 39796151 C T g.39796151C>T ENST00000280083.3 c.1756C>T p.His586Tyr missense_variant probably damaging SNU398 Missense Mutation WDHD1 chr14 55477150 55477150 T C g.55477150T>C ENST00000360586.3 c.218A>G p.Asn73Ser missense_variant benign SNU398 Missense Mutation LTBP2 chr14 74969440 74969440 C T g.74969440C>T ENST00000261978.4 c.5086G>A p.Gly1696Ser missense_variant benign SNU398 Missense Mutation TRIP11 chr14 92460245 92460245 T A g.92460245T>A ENST00000267622.4 c.5068A>T p.Met1690Leu missense_variant benign SNU398 Missense Mutation RP11-89K11.1 chr15 102284706 102284706 G A g.102284706G>A ENST00000558592.1 c.70C>T p.P24S missense_variant NA SNU398 Missense Mutation NOP10 chr15 34634210 34634210 A G g.34634210A>G ENST00000328848.4 c.154T>C p.Phe52Leu missense_variant probably damaging SNU398 Missense Mutation AQR chr15 35189867 35189867 C A g.35189867C>A ENST00000156471.5 c.2283G>T p.Arg761Ser missense_variant benign SNU398 Missense Mutation VPS18 chr15 41192719 41192719 G T g.41192719G>T ENST00000220509.5 c.1703G>T p.Arg568Leu missense_variant possibly damaging SNU398 Missense Mutation NOX5 chr15 69331219 69331219 G A g.69331219G>A ENST00000388866.3 c.1394G>A p.Arg465Gln missense_variant probably damaging SNU398 Missense Mutation POLG chr15 89862529 89862529 C T g.89862529C>T ENST00000268124.5 c.3034G>A p.Val1012Met missense_variant possibly damaging SNU398 Missense Mutation ERI2 chr16 20810316 20810316 C T g.20810316C>T ENST00000357967.4 c.806G>A p.Cys269Tyr missense_variant benign SNU398 Missense Mutation SCNN1B chr16 23364328 23364328 G T g.23364328G>T ENST00000343070.2 c.518G>T p.Gly173Val missense_variant benign SNU398 Missense Mutation ZNF747 chr16 30545765 30545765 C T g.30545765C>T ENST00000252799.3 c.236G>A p.Ser79Asn missense_variant benign SNU398 Missense Mutation TMEM8A chr16 426718 426718 C T g.426718C>T ENST00000431232.2 c.730G>A p.Gly244Ser missense_variant probably damaging SNU398 Missense Mutation MYLK3 chr16 46766279 46766279 C G g.46766279C>G ENST00000394809.4 c.1303G>C p.Asp435His missense_variant possibly damaging SNU398 Missense Mutation N4BP1 chr16 48643834 48643834 G A g.48643834G>A ENST00000262384.3 c.50C>T p.Ala17Val missense_variant benign SNU398 Missense Mutation NAGPA chr16 5075570 5075570 T C g.5075570T>C ENST00000312251.3 c.1457A>G p.Tyr486Cys missense_variant probably damaging SNU398 Missense Mutation DPEP2 chr16 68026475 68026475 G A g.68026475G>A ENST00000393847.1 c.328C>T p.Arg110Cys missense_variant probably damaging SNU398 Missense Mutation WDR24 chr16 735065 735065 C G g.735065C>G ENST00000293883.4 c.2131G>C p.Ala711Pro missense_variant possibly damaging SNU398 Missense Mutation CDH15 chr16 89254649 89254649 C T g.89254649C>T ENST00000289746.2 c.934C>T p.Arg312Cys missense_variant probably damaging SNU398 Missense Mutation ANKRD11 chr16 89347895 89347895 C T g.89347895C>T ENST00000301030.4 c.5055G>A p.Met1685Ile missense_variant benign SNU398 Missense Mutation CHMP1A chr16 89713113 89713113 C T g.89713113C>T ENST00000397901.3 c.391G>A p.Asp131Asn missense_variant benign SNU398 Missense Mutation MYH2 chr17 10443920 10443920 C T g.10443920C>T ENST00000245503.5 c.999G>A p.Met333Ile missense_variant benign SNU398 Missense Mutation G6PC chr17 41063402 41063402 C G g.41063402C>G ENST00000253801.2 c.1033C>G p.Leu345Val missense_variant benign SNU398 Missense Mutation TBKBP1 chr17 45776016 45776016 G A g.45776016G>A ENST00000361722.3 c.509G>A p.Arg170Gln missense_variant benign SNU398 Missense Mutation ABCA6 chr17 67129981 67129981 C G g.67129981C>G ENST00000284425.2 c.592G>C p.Glu198Gln missense_variant possibly damaging SNU398 Missense Mutation DVL2 chr17 7133635 7133635 C T g.7133635C>T ENST00000005340.5 c.379G>A p.Gly127Ser missense_variant probably damaging SNU398 Missense Mutation DNAH17 chr17 76526474 76526474 G A g.76526474G>A ENST00000389840.5 c.3235C>T p.Arg1079Cys missense_variant damaging SNU398 Missense Mutation PER1 chr17 8051512 8051512 C T g.8051512C>T ENST00000317276.4 c.1114G>A p.Asp372Asn missense_variant probably damaging SNU398 Missense Mutation OSBPL1A chr18 21883652 21883652 T C g.21883652T>C ENST00000319481.3 c.1123A>G p.Arg375Gly missense_variant benign SNU398 Missense Mutation ZNF521 chr18 22806336 22806336 G A g.22806336G>A ENST00000361524.3 c.1546C>T p.Pro516Ser missense_variant possibly damaging SNU398 Missense Mutation DSC3 chr18 28574152 28574152 T C g.28574152T>C ENST00000360428.4 c.2680A>G p.Thr894Ala missense_variant benign SNU398 Missense Mutation ASXL3 chr18 31319203 31319203 C G g.31319203C>G ENST00000269197.5 c.1835C>G p.Ser612Cys missense_variant probably damaging SNU398 Missense Mutation C18orf54 chr18 51887025 51887025 G A g.51887025G>A ENST00000300091.5 c.83G>A p.Gly28Asp missense_variant benign SNU398 Missense Mutation ZNF236 chr18 74592156 74592156 G A g.74592156G>A ENST00000253159.8 c.1066G>A p.Asp356Asn missense_variant probably damaging SNU398 Missense Mutation ZGLP1 chr19 10416090 10416090 G C g.10416090G>C ENST00000403903.3 c.674C>G p.Pro225Arg missense_variant probably damaging SNU398 Missense Mutation DOCK6 chr19 11326584 11326584 C T g.11326584C>T ENST00000294618.7 c.3914G>A p.Arg1305His missense_variant probably damaging SNU398 Missense Mutation UNC13A chr19 17759450 17759450 C T g.17759450C>T ENST00000252773.7 c.1606G>A p.Val536Ile missense_variant possibly damaging SNU398 Missense Mutation DOT1L chr19 2227061 2227061 C T g.2227061C>T ENST00000398665.3 c.4541C>T p.Ala1514Val missense_variant probably damaging SNU398 Missense Mutation LSR chr19 35757339 35757339 G A g.35757339G>A ENST00000361790.3 c.1000G>A p.Ala334Thr missense_variant benign SNU398 Missense Mutation NPHS1 chr19 36334399 36334399 G A g.36334399G>A ENST00000353632.6 c.2309C>T p.Pro770Leu missense_variant probably damaging SNU398 Missense Mutation ZNF382 chr19 37118438 37118438 A C g.37118438A>C ENST00000292928.2 c.1639A>C p.Thr547Pro missense_variant benign SNU398 Missense Mutation ZNF420 chr19 37619940 37619940 G A g.37619940G>A ENST00000337995.3 c.2047G>A p.Gly683Ser missense_variant benign SNU398 Missense Mutation FCGBP chr19 40433068 40433068 C A g.40433068C>A ENST00000221347.6 c.1201G>T p.Ala401Ser missense_variant benign SNU398 Missense Mutation CYP2S1 chr19 41704648 41704648 T G g.41704648T>G ENST00000310054.4 c.689T>G p.Leu230Arg missense_variant probably damaging SNU398 Missense Mutation SHC2 chr19 440902 440902 T G g.440902T>G ENST00000264554.6 c.499A>C p.Met167Leu missense_variant possibly damaging SNU398 Missense Mutation RTN2 chr19 45996622 45996622 A T g.45996622A>T ENST00000245923.4 c.829T>A p.Trp277Arg missense_variant damaging SNU398 Missense Mutation ZNF749 chr19 57956642 57956642 C T g.57956642C>T ENST00000334181.4 c.2126C>T p.Ser709Leu missense_variant possibly damaging SNU398 Missense Mutation ZNF586 chr19 58290642 58290642 T C g.58290642T>C ENST00000396150.4 c.560T>C p.Leu187Pro missense_variant damaging SNU398 Missense Mutation TRIM28 chr19 59061853 59061853 C T g.59061853C>T ENST00000253024.5 c.2441C>T p.Pro814Leu missense_variant benign SNU398 Missense Mutation FGF22 chr19 643449 643449 G A g.643449G>A ENST00000215530.5 c.358G>A p.Glu120Lys missense_variant probably damaging SNU398 Missense Mutation REV1 chr2 100021042 100021042 C A g.100021042C>A ENST00000258428.3 c.2910G>T p.Lys970Asn missense_variant possibly damaging SNU398 Missense Mutation SLC9A2 chr2 103281694 103281694 G A g.103281694G>A ENST00000233969.2 c.889G>A p.Ala297Thr missense_variant probably damaging SNU398 Missense Mutation ZC3H6 chr2 113069390 113069390 A G g.113069390A>G ENST00000343936.4 c.623A>G p.Gln208Arg missense_variant possibly damaging SNU398 Missense Mutation PTPN4 chr2 120723215 120723215 A G g.120723215A>G ENST00000263708.2 c.2552A>G p.His851Arg missense_variant probably damaging SNU398 Missense Mutation NEB chr2 152369336 152369336 A G g.152369336A>G ENST00000172853.10 c.18154T>C p.Ser6052Pro missense_variant possibly damaging SNU398 Missense Mutation RAPGEF4 chr2 173891891 173891891 A G g.173891891A>G ENST00000397081.3 c.2462A>G p.Asn821Ser missense_variant probably damaging SNU398 Missense Mutation PUM2 chr2 20497383 20497383 T C g.20497383T>C ENST00000319801.5 c.940A>G p.Ile314Val missense_variant probably damaging SNU398 Missense Mutation HS1BP3 chr2 20824545 20824545 G A g.20824545G>A ENST00000304031.3 c.731C>T p.Pro244Leu missense_variant benign SNU398 Missense Mutation OBSL1 chr2 220435362 220435362 G T g.220435362G>T ENST00000265318.4 c.593C>A p.Ala198Glu missense_variant probably damaging SNU398 Missense Mutation DGKD chr2 234345016 234345016 A G g.234345016A>G ENST00000264057.2 c.748A>G p.Thr250Ala missense_variant benign SNU398 Missense Mutation USP40 chr2 234402112 234402112 G A g.234402112G>A ENST00000450966.1 c.2909C>T p.Thr970Ile missense_variant benign SNU398 Missense Mutation UGT1A10 chr2 234545345 234545345 G A g.234545345G>A ENST00000344644.5 c.177G>A p.Met59Ile missense_variant benign SNU398 Missense Mutation UGT1A9 chr2 234581346 234581346 G A g.234581346G>A ENST00000354728.4 c.766G>A p.Asp256Asn missense_variant damaging SNU398 Missense Mutation PRLH chr2 238475278 238475278 C G g.238475278C>G ENST00000165524.1 c.62C>G p.Ala21Gly missense_variant possibly damaging SNU398 Missense Mutation C2orf44 chr2 24261749 24261749 C T g.24261749C>T ENST00000295148.4 c.616G>A p.Val206Ile missense_variant benign SNU398 Missense Mutation OTOF chr2 26700111 26700111 G A g.26700111G>A ENST00000272371.2 c.2452C>T p.Arg818Trp missense_variant possibly damaging SNU398 Missense Mutation EML4 chr2 42557310 42557310 T G g.42557310T>G ENST00000318522.5 c.2909T>G p.Leu970Arg missense_variant benign SNU398 Missense Mutation VRK2 chr2 58359041 58359041 G A g.58359041G>A ENST00000340157.4 c.775G>A p.Ala259Thr missense_variant possibly damaging SNU398 Missense Mutation PROKR1 chr2 68882412 68882412 T C g.68882412T>C ENST00000303786.3 c.886T>C p.Cys296Arg missense_variant probably damaging SNU398 Missense Mutation FBXO41 chr2 73492617 73492617 G A g.73492617G>A ENST00000520530.2 c.1357C>T p.Arg453Trp missense_variant probably damaging SNU398 Missense Mutation RRBP1 chr20 17597408 17597408 T A g.17597408T>A ENST00000246043.4 c.3836A>T p.Glu1279Val missense_variant benign SNU398 Missense Mutation THBD chr20 23029795 23029795 T G g.23029795T>G ENST00000377103.2 c.347A>C p.Asn116Thr missense_variant benign SNU398 Missense Mutation NINL chr20 25457541 25457541 C T g.25457541C>T ENST00000278886.6 c.2386G>A p.Ala796Thr missense_variant probably damaging SNU398 Missense Mutation SNTA1 chr20 31996374 31996374 A G g.31996374A>G ENST00000217381.2 c.1457T>C p.Ile486Thr missense_variant benign SNU398 Missense Mutation CEP250 chr20 34085857 34085857 G T g.34085857G>T ENST00000397527.1 c.3616G>T p.Gly1206Trp missense_variant possibly damaging SNU398 Missense Mutation PLCG1 chr20 39795470 39795470 G A g.39795470G>A ENST00000244007.3 c.2272G>A p.Glu758Lys missense_variant possibly damaging SNU398 Missense Mutation SDC4 chr20 43961697 43961697 T C g.43961697T>C ENST00000372733.3 c.212A>G p.Asp71Gly missense_variant benign SNU398 Missense Mutation SLC12A5 chr20 44671873 44671873 C T g.44671873C>T ENST00000454036.2 c.1217C>T p.Thr406Ile missense_variant benign SNU398 Missense Mutation ZBP1 chr20 56191417 56191417 C A g.56191417C>A ENST00000340462.4 c.142G>T p.Val48Phe missense_variant probably damaging SNU398 Missense Mutation CDH26 chr20 58577893 58577893 G T g.58577893G>T ENST00000348616.4 c.2192G>T p.Arg731Ile missense_variant probably damaging SNU398 Missense Mutation PRPF6 chr20 62626330 62626330 G T g.62626330G>T ENST00000266079.4 c.500G>T p.Arg167Ile missense_variant probably damaging SNU398 Missense Mutation BRWD1 chr21 40559007 40559007 T G g.40559007T>G ENST00000333229.2 c.6908A>C p.Asn2303Thr missense_variant benign SNU398 Missense Mutation SH3BGR chr21 40823984 40823984 A G g.40823984A>G ENST00000333634.4 c.151A>G p.Arg51Gly missense_variant benign SNU398 Missense Mutation BCL2L13 chr22 18210149 18210149 C T g.18210149C>T ENST00000317582.5 c.1307C>T p.Pro436Leu missense_variant benign SNU398 Missense Mutation ZNF74 chr22 20760305 20760305 G A g.20760305G>A ENST00000356671.5 c.982G>A p.Gly328Ser missense_variant probably damaging SNU398 Missense Mutation HIC2 chr22 21800098 21800098 C T g.21800098C>T ENST00000407464.2 c.914C>T p.Pro305Leu missense_variant benign SNU398 Missense Mutation TFIP11 chr22 26890155 26890155 T C g.26890155T>C ENST00000405938.1 c.2108A>G p.Lys703Arg missense_variant probably damaging SNU398 Missense Mutation SEC14L4 chr22 30890160 30890160 A G g.30890160A>G ENST00000255858.7 c.557T>C p.Leu186Pro missense_variant probably damaging SNU398 Missense Mutation CELSR1 chr22 46835260 46835260 A G g.46835260A>G ENST00000262738.3 c.4232T>C p.Val1411Ala missense_variant probably damaging SNU398 Missense Mutation CERK chr22 47085983 47085983 T C g.47085983T>C ENST00000216264.8 c.1447A>G p.Ile483Val missense_variant benign SNU398 Missense Mutation NCAPH2 chr22 50960935 50960935 T C g.50960935T>C ENST00000395701.3 c.1312T>C p.Phe438Leu missense_variant benign SNU398 Missense Mutation BBX chr3 107520046 107520046 A T g.107520046A>T ENST00000325805.8 c.2656A>T p.Ser886Cys missense_variant possibly damaging SNU398 Missense Mutation SLC9C1 chr3 111923150 111923150 T C g.111923150T>C ENST00000305815.5 c.2087A>G p.Asp696Gly missense_variant benign SNU398 Missense Mutation BOC chr3 113002263 113002263 A G g.113002263A>G ENST00000355385.3 c.2437A>G p.Lys813Glu missense_variant possibly damaging SNU398 Missense Mutation POGLUT1 chr3 119205718 119205718 G A g.119205718G>A ENST00000295588.4 c.677G>A p.Arg226Gln missense_variant possibly damaging SNU398 Missense Mutation ILDR1 chr3 121712211 121712211 C T g.121712211C>T ENST00000344209.5 c.1385G>A p.Arg462Gln missense_variant probably damaging SNU398 Missense Mutation ALDH1L1 chr3 125872376 125872376 C T g.125872376C>T ENST00000393431.2 c.769G>A p.Glu257Lys missense_variant benign SNU398 Missense Mutation IQSEC1 chr3 12977720 12977720 C T g.12977720C>T ENST00000273221.4 c.838G>A p.Glu280Lys missense_variant possibly damaging SNU398 Missense Mutation FOXL2 chr3 138664520 138664520 G C g.138664520G>C ENST00000330315.3 c.1045C>G p.Arg349Gly missense_variant probably damaging SNU398 Missense Mutation FAM188B2 chr3 150588914 150588914 C T g.150588914C>T ENST00000397891.3 c.989G>A p.R330Q missense_variant NA SNU398 Missense Mutation ARHGEF26 chr3 153840056 153840056 C T g.153840056C>T ENST00000356448.4 c.275C>T p.Ala92Val missense_variant benign SNU398 Missense Mutation GPR149 chr3 154146971 154146971 C T g.154146971C>T ENST00000389740.2 c.434G>A p.Arg145Lys missense_variant benign SNU398 Missense Mutation MECOM chr3 168806946 168806946 C T g.168806946C>T ENST00000460814.1 c.2836G>A p.Gly946Arg missense_variant probably damaging SNU398 Missense Mutation NLGN1 chr3 173998768 173998768 G A g.173998768G>A ENST00000361589.4 c.2147G>A p.Arg716His missense_variant benign SNU398 Missense Mutation MASP1 chr3 186937924 186937924 C T g.186937924C>T ENST00000337774.5 c.2035G>A p.Gly679Arg missense_variant damaging SNU398 Missense Mutation GMNC chr3 190573599 190573599 T G g.190573599T>G ENST00000442080.1 c.490A>C p.Lys164Gln missense_variant probably damaging SNU398 Missense Mutation SENP5 chr3 196612660 196612660 C T g.196612660C>T ENST00000323460.5 c.608C>T p.Pro203Leu missense_variant benign SNU398 Missense Mutation TOP2B chr3 25639827 25639827 C G g.25639827C>G ENST00000435706.2 c.4837G>C p.Asp1613His missense_variant benign SNU398 Missense Mutation SLC22A13 chr3 38318438 38318438 G A g.38318438G>A ENST00000311856.4 c.1382G>A p.Arg461Gln missense_variant probably damaging SNU398 Missense Mutation CTNNB1 chr3 41266113 41266113 C G g.41266113C>G ENST00000349496.5 c.110C>G p.Ser37Cys missense_variant probably damaging SNU398 Missense Mutation SEC22C chr3 42590112 42590112 G A g.42590112G>A ENST00000273156.7 c.749C>T p.Ser250Leu missense_variant damaging SNU398 Missense Mutation FAM198A chr3 43096993 43096993 A G g.43096993A>G ENST00000273146.2 c.1483A>G p.Lys495Glu missense_variant,NMD_transcript_variant benign SNU398 Missense Mutation TOPAZ1 chr3 44284456 44284456 G C g.44284456G>C ENST00000309765.4 c.458G>C p.Cys153Ser missense_variant benign SNU398 Missense Mutation BSN chr3 49699579 49699579 A G g.49699579A>G ENST00000296452.4 c.10301A>G p.Asp3434Gly missense_variant possibly damaging SNU398 Missense Mutation STAB1 chr3 52546417 52546417 G C g.52546417G>C ENST00000321725.6 c.2944G>C p.Gly982Arg missense_variant probably damaging SNU398 Missense Mutation TKT chr3 53259798 53259798 C T g.53259798C>T ENST00000423525.2 c.1846G>A p.Val616Met missense_variant probably damaging SNU398 Missense Mutation PROM1 chr4 15995639 15995639 T G g.15995639T>G ENST00000447510.2 c.1738A>C p.Asn580His missense_variant possibly damaging SNU398 Missense Mutation TACC3 chr4 1730313 1730313 C G g.1730313C>G ENST00000313288.4 c.1184C>G p.Pro395Arg missense_variant probably damaging SNU398 Missense Mutation CORIN chr4 47746595 47746595 C A g.47746595C>A ENST00000273857.4 c.623G>T p.Gly208Val missense_variant benign SNU398 Missense Mutation CLOCK chr4 56325422 56325422 T C g.56325422T>C ENST00000309964.4 c.566A>G p.Asn189Ser missense_variant benign SNU398 Missense Mutation YTHDC1 chr4 69197856 69197856 T C g.69197856T>C ENST00000344157.4 c.1087A>G p.Asn363Asp missense_variant probably damaging SNU398 Missense Mutation PJA2 chr5 108714241 108714241 G T g.108714241G>T ENST00000361189.2 c.947C>A p.Pro316Gln missense_variant probably damaging SNU398 Missense Mutation COMMD10 chr5 115627229 115627229 C G g.115627229C>G ENST00000274458.4 c.526C>G p.Leu176Val missense_variant benign SNU398 Missense Mutation DMXL1 chr5 118556207 118556207 T A g.118556207T>A ENST00000311085.8 c.7991T>A p.Val2664Asp missense_variant benign SNU398 Missense Mutation PCDHB16 chr5 140563327 140563327 A G g.140563327A>G ENST00000361016.2 c.1193A>G p.Lys398Arg missense_variant possibly damaging SNU398 Missense Mutation PCDHGB7 chr5 140799446 140799446 G T g.140799446G>T ENST00000398594.2 c.2020G>T p.Asp674Tyr missense_variant damaging SNU398 Missense Mutation NSD1 chr5 176684131 176684131 G A g.176684131G>A ENST00000439151.2 c.4945G>A p.Ala1649Thr missense_variant benign SNU398 Missense Mutation FLT4 chr5 180035990 180035990 G T g.180035990G>T ENST00000261937.6 c.3871C>A p.His1291Asn missense_variant benign SNU398 Missense Mutation CDH10 chr5 24505268 24505268 C T g.24505268C>T ENST00000264463.4 c.1346G>A p.Arg449His missense_variant probably damaging SNU398 Missense Mutation RAD1 chr5 34914880 34914880 C T g.34914880C>T ENST00000325577.4 c.118G>A p.Ala40Thr missense_variant,NMD_transcript_variant probably damaging SNU398 Missense Mutation MROH2B chr5 41051137 41051137 C T g.41051137C>T ENST00000399564.4 c.1286G>A p.Arg429Gln missense_variant benign SNU398 Missense Mutation HTR1A chr5 63257083 63257083 G C g.63257083G>C ENST00000323865.3 c.464C>G p.Ala155Gly missense_variant possibly damaging SNU398 Missense Mutation GCNT2 chr6 10626680 10626680 G A g.10626680G>A ENST00000265012.4 c.1049G>A p.Gly350Glu missense_variant possibly damaging SNU398 Missense Mutation FER1L5 chr2 97370320 97370320 C T g.97370320C>T NM_001113382.1 c.6173C>T p.Thr2058Ile missense_variant benign SNU398 Missense Mutation LAMA2 chr6 129807737 129807737 A C g.129807737A>C ENST00000421865.2 c.7868A>C p.Glu2623Ala missense_variant benign SNU398 Missense Mutation MYB chr6 135513569 135513569 C T g.135513569C>T ENST00000316528.8 c.635C>T p.Thr212Ile missense_variant benign SNU398 Missense Mutation SASH1 chr6 148853975 148853975 G A g.148853975G>A ENST00000367467.3 c.1607G>A p.Arg536Gln missense_variant probably damaging SNU398 Missense Mutation PLEKHG1 chr6 151152567 151152567 G A g.151152567G>A ENST00000358517.2 c.2320G>A p.Asp774Asn missense_variant probably damaging SNU398 Missense Mutation HIST1H1C chr6 26056281 26056281 T C g.26056281T>C ENST00000343677.2 c.376A>G p.Thr126Ala missense_variant benign SNU398 Missense Mutation CYP21A2 chr6 32007533 32007533 C T g.32007533C>T ENST00000418967.2 c.659C>T p.Pro220Leu missense_variant probably damaging SNU398 Missense Mutation HLA-DPA1 chr6 33041263 33041263 C G g.33041263C>G ENST00000419277.1 c.85G>C p.Ala29Pro missense_variant probably damaging SNU398 Missense Mutation C6orf132 chr6 42074608 42074608 G A g.42074608G>A ENST00000341865.4 c.1042C>T p.Pro348Ser missense_variant damaging SNU398 Missense Mutation FAM83B chr6 54806089 54806089 A G g.54806089A>G ENST00000306858.7 c.2320A>G p.Lys774Glu missense_variant probably damaging SNU398 Missense Mutation FAM135A chr6 71232243 71232243 T C g.71232243T>C ENST00000361499.3 c.1057T>C p.Cys353Arg missense_variant probably damaging SNU398 Missense Mutation CAGE1 chr6 7373579 7373579 G C g.7373579G>C ENST00000338150.4 c.1473C>G p.Phe491Leu missense_variant benign SNU398 Missense Mutation RELN chr7 103183296 103183296 T A g.103183296T>A ENST00000343529.5 c.6553A>T p.Met2185Leu missense_variant benign SNU398 Missense Mutation DNAJB9 chr7 108213556 108213556 G A g.108213556G>A ENST00000249356.3 c.431G>A p.Arg144His missense_variant benign SNU398 Missense Mutation WEE2 chr7 141423747 141423747 T C g.141423747T>C ENST00000397541.2 c.1034T>C p.Ile345Thr missense_variant probably damaging SNU398 Missense Mutation KEL chr7 142651320 142651320 C T g.142651320C>T ENST00000355265.2 c.875G>A p.Arg292Gln missense_variant possibly damaging SNU398 Missense Mutation ZNF786 chr7 148769055 148769055 T C g.148769055T>C ENST00000491431.1 c.809A>G p.Asn270Ser missense_variant benign SNU398 Missense Mutation ZNF862 chr7 149558492 149558492 G A g.149558492G>A ENST00000223210.4 c.2243G>A p.Arg748Gln missense_variant probably damaging SNU398 Missense Mutation GIMAP8 chr7 150164004 150164004 T C g.150164004T>C ENST00000307271.3 c.218T>C p.Ile73Thr missense_variant benign SNU398 Missense Mutation GALNT11 chr7 151797920 151797920 C G g.151797920C>G ENST00000320311.2 c.333C>G p.Asp111Glu missense_variant benign SNU398 Missense Mutation PAXIP1 chr7 154767819 154767819 C T g.154767819C>T ENST00000397192.1 c.661G>A p.Ala221Thr missense_variant possibly damaging SNU398 Missense Mutation TAX1BP1 chr7 27805630 27805630 G A g.27805630G>A ENST00000265393.6 c.443G>A p.Gly148Asp missense_variant possibly damaging SNU398 Missense Mutation FKBP9 chr7 33014249 33014249 T C g.33014249T>C ENST00000242209.4 c.242T>C p.Phe81Ser missense_variant benign SNU398 Missense Mutation GLI3 chr7 42012196 42012196 T A g.42012196T>A ENST00000395925.3 c.1843A>T p.Thr615Ser missense_variant benign SNU398 Missense Mutation URGCP chr7 43918283 43918283 G A g.43918283G>A ENST00000453200.1 c.779C>T p.Ala260Val missense_variant benign SNU398 Missense Mutation USP42 chr7 6194238 6194238 G A g.6194238G>A ENST00000306177.5 c.3053G>A p.Ser1018Asn missense_variant benign SNU398 Missense Mutation PTCD1 chr7 99022735 99022735 A G g.99022735A>G ENST00000292478.4 c.1420T>C p.Phe474Leu missense_variant probably damaging SNU398 Missense Mutation VPS13B chr8 100155375 100155375 T C g.100155375T>C ENST00000355155.1 c.1825T>C p.Tyr609His missense_variant probably damaging SNU398 Missense Mutation ZFPM2 chr8 106814517 106814517 G A g.106814517G>A ENST00000407775.2 c.2207G>A p.Arg736His missense_variant probably damaging SNU398 Missense Mutation PKHD1L1 chr8 110394742 110394742 C T g.110394742C>T ENST00000378402.5 c.359C>T p.Pro120Leu missense_variant possibly damaging SNU398 Missense Mutation TIGD5 chr8 144681790 144681790 G A g.144681790G>A ENST00000504548.2 c.1717G>A p.Asp573Asn missense_variant benign SNU398 Missense Mutation ST18 chr8 53044680 53044680 C T g.53044680C>T ENST00000276480.7 c.2504G>A p.Arg835His missense_variant probably damaging SNU398 Missense Mutation NR4A3 chr9 102590340 102590340 G A g.102590340G>A ENST00000338488.4 c.16G>A p.Ala6Thr missense_variant probably damaging SNU398 Missense Mutation OR1L6 chr9 125513020 125513020 G A g.125513020G>A ENST00000304720.2 c.894G>A p.Met298Ile missense_variant benign SNU398 Missense Mutation UNC13B chr9 35295725 35295725 C G g.35295725C>G ENST00000378495.3 c.559C>G p.Arg187Gly missense_variant probably damaging SNU398 Missense Mutation TAF7L chrX 100547970 100547970 T A g.100547970T>A ENST00000372907.3 c.64A>T p.Thr22Ser missense_variant benign SNU398 Missense Mutation TENM1 chrX 123805596 123805596 C T g.123805596C>T ENST00000371130.3 c.1105G>A p.Glu369Lys missense_variant benign SNU398 Missense Mutation MAMLD1 chrX 149680828 149680828 G A g.149680828G>A ENST00000432680.2 c.2482G>A p.Ala828Thr missense_variant benign SNU398 Missense Mutation SYAP1 chrX 16737924 16737924 C T g.16737924C>T ENST00000380155.3 c.77C>T p.Pro26Leu missense_variant benign SNU398 Missense Mutation GPR64 chrX 19021131 19021131 T A g.19021131T>A ENST00000379869.3 c.2063A>T p.Tyr688Phe missense_variant benign SNU398 Missense Mutation MED14 chrX 40556278 40556278 T C g.40556278T>C ENST00000324817.1 c.1648A>G p.Ile550Val (Splice) missense_variant,splice_region_variant benign SNU398 Missense Mutation STS chrX 7175296 7175296 G A g.7175296G>A ENST00000217961.4 c.166G>A p.Asp56Asn missense_variant probably damaging SNU423 Missense Mutation KIF1B chr1 10406001 10406001 C T g.10406001C>T ENST00000263934.6 c.3649C>T p.Pro1217Ser missense_variant benign SNU423 Missense Mutation VAV3 chr1 108507344 108507344 G A g.108507344G>A ENST00000370056.4 c.148C>T p.Leu50Phe missense_variant probably damaging SNU423 Missense Mutation SYT6 chr1 114680458 114680458 C T g.114680458C>T ENST00000369547.1 c.475G>A p.Glu159Lys missense_variant probably damaging SNU423 Missense Mutation MIIP chr1 12082333 12082333 A G g.12082333A>G ENST00000235332.4 c.296A>G p.Lys99Arg missense_variant benign SNU423 Missense Mutation DHRS3 chr1 12638962 12638962 C T g.12638962C>T ENST00000376223.2 c.482G>A p.Arg161His missense_variant probably damaging SNU423 Missense Mutation HRNR chr1 152191577 152191577 C T g.152191577C>T ENST00000368801.2 c.2528G>A p.Arg843Gln missense_variant benign SNU423 Missense Mutation SMG5 chr1 156233263 156233263 C T g.156233263C>T ENST00000361813.5 c.1954G>A p.Glu652Lys missense_variant probably damaging SNU423 Missense Mutation CD1B chr1 158299670 158299670 A T g.158299670A>T ENST00000368168.3 c.579T>A p.Asn193Lys missense_variant benign SNU423 Missense Mutation OR10K2 chr1 158390224 158390224 C A g.158390224C>A ENST00000314902.2 c.433G>T p.Val145Leu missense_variant possibly damaging SNU423 Missense Mutation ATP13A2 chr1 17318244 17318244 C T g.17318244C>T ENST00000326735.8 c.2236G>A p.Ala746Thr missense_variant benign SNU423 Missense Mutation PADI2 chr1 17402215 17402215 C G g.17402215C>G ENST00000375486.4 c.1414G>C p.Val472Leu missense_variant benign SNU423 Missense Mutation PADI1 chr1 17555507 17555507 C T g.17555507C>T ENST00000375471.4 c.890C>T p.Thr297Met missense_variant probably damaging SNU423 Missense Mutation CFH chr1 196643017 196643017 C T g.196643017C>T ENST00000359637.2 c.275C>T p.Pro92Leu missense_variant benign SNU423 Missense Mutation HSPG2 chr1 22176542 22176542 G A g.22176542G>A ENST00000374695.3 c.7438C>T p.R2480W missense_variant probably damaging SNU423 Missense Mutation EPHX1 chr1 226016507 226016507 C G g.226016507C>G ENST00000272167.5 c.77C>G p.Thr26Ser missense_variant benign SNU423 Missense Mutation MAP3K6 chr1 27684048 27684048 T A g.27684048T>A ENST00000357582.2 c.3101A>T p.Asn1034Ile missense_variant benign SNU423 Missense Mutation PRDM16 chr1 3347605 3347605 G A g.3347605G>A ENST00000270722.5 c.3454G>A p.Ala1152Thr missense_variant benign SNU423 Missense Mutation WDR65 chr1 43675482 43675482 G A g.43675482G>A ENST00000372492.4 c.1824G>A p.Met608Ile missense_variant possibly damaging SNU423 Missense Mutation LPHN2 chr1 82408784 82408784 C T g.82408784C>T ENST00000271029.4 c.529C>T p.Pro177Ser missense_variant probably damaging SNU423 Missense Mutation SYDE2 chr1 85630373 85630373 G A g.85630373G>A ENST00000341460.5 c.2921C>T p.Thr974Met missense_variant probably damaging SNU423 Missense Mutation SVIL chr10 29839748 29839748 A G g.29839748A>G ENST00000355867.4 c.605T>C p.Ile202Thr missense_variant benign SNU423 Missense Mutation ANKRD30A chr10 37431129 37431129 C T g.37431129C>T ENST00000361713.1 c.1136C>T p.Thr379Ile missense_variant possibly damaging SNU423 Missense Mutation ERCC6 chr10 50678425 50678425 T C g.50678425T>C ENST00000355832.5 c.3581A>G p.Glu1194Gly missense_variant benign SNU423 Missense Mutation CHST3 chr10 73766944 73766944 T G g.73766944T>G ENST00000373115.4 c.155T>G p.Leu52Arg missense_variant probably damaging SNU423 Missense Mutation AMPD3 chr11 10521792 10521792 C T g.10521792C>T ENST00000396554.3 c.1744C>T p.Arg582Cys missense_variant probably damaging SNU423 Missense Mutation DSCAML1 chr11 117395522 117395522 A G g.117395522A>G ENST00000321322.6 c.1115T>C p.Ile372Thr (Splice) missense_variant,splice_region_variant benign SNU423 Missense Mutation TRPM5 chr11 2432720 2432720 C T g.2432720C>T ENST00000155858.6 c.2644G>A p.Val882Met missense_variant probably damaging SNU423 Missense Mutation PACSIN3 chr11 47204083 47204083 G A g.47204083G>A ENST00000298838.6 c.82C>T p.Arg28Trp missense_variant probably damaging SNU423 Missense Mutation FNBP4 chr11 47744635 47744635 C T g.47744635C>T ENST00000263773.5 c.2698G>A p.Ala900Thr missense_variant benign SNU423 Missense Mutation OR5L2 chr11 55594988 55594988 G A g.55594988G>A ENST00000378397.1 c.294G>A p.Met98Ile missense_variant benign SNU423 Missense Mutation OR5L2 chr11 55594989 55594989 G T g.55594989G>T ENST00000378397.1 c.295G>T p.Val99Leu missense_variant benign SNU423 Missense Mutation OR8I2 chr11 55860830 55860830 G T g.55860830G>T ENST00000302124.2 c.47G>T p.Gly16Val missense_variant probably damaging SNU423 Missense Mutation OLFML1 chr11 7509545 7509545 G A g.7509545G>A ENST00000329293.3 c.317G>A p.Arg106Gln missense_variant probably damaging SNU423 Missense Mutation UVRAG chr11 75851874 75851874 G A g.75851874G>A ENST00000356136.3 c.1517G>A p.Arg506Gln missense_variant probably damaging SNU423 Missense Mutation KDM4E chr11 94759401 94759401 T C g.94759401T>C ENST00000450979.2 c.680T>C p.Leu227Pro missense_variant probably damaging SNU423 Missense Mutation SLCO1B1 chr12 21375241 21375241 C G g.21375241C>G ENST00000256958.2 c.1690C>G p.Gln564Glu missense_variant benign SNU423 Missense Mutation LRRK2 chr12 40704252 40704252 C T g.40704252C>T ENST00000298910.7 c.4337C>T p.Pro1446Leu missense_variant probably damaging SNU423 Missense Mutation KDM5A chr12 431713 431713 T A g.431713T>A ENST00000382815.4 c.2296A>T p.Met766Leu missense_variant benign SNU423 Missense Mutation AKAP3 chr12 4737101 4737101 G A g.4737101G>A ENST00000228850.1 c.967C>T p.Leu323Phe missense_variant possibly damaging SNU423 Missense Mutation FAIM2 chr12 50291790 50291790 G A g.50291790G>A ENST00000320634.3 c.295C>T p.Arg99Cys missense_variant benign SNU423 Missense Mutation FAIM2 chr12 50291850 50291850 C T g.50291850C>T ENST00000320634.3 c.235G>A p.Gly79Ser missense_variant benign SNU423 Missense Mutation KRT1 chr12 53069060 53069060 A T g.53069060A>T ENST00000252244.3 c.1852T>A p.Ser618Thr missense_variant benign SNU423 Missense Mutation TENC1 chr12 53444036 53444036 G A g.53444036G>A ENST00000314250.6 c.67G>A p.Ala23Thr missense_variant benign SNU423 Missense Mutation OR6C3 chr12 55725765 55725765 G C g.55725765G>C ENST00000379667.1 c.281G>C p.Cys94Ser missense_variant benign SNU423 Missense Mutation PAN2 chr12 56721376 56721376 C T g.56721376C>T ENST00000257931.5 c.691G>A p.Glu231Lys missense_variant benign SNU423 Missense Mutation LRRIQ1 chr12 85547849 85547849 C T g.85547849C>T ENST00000393217.2 c.4697C>T p.Ser1566Leu missense_variant possibly damaging SNU423 Missense Mutation TMTC4 chr13 101320912 101320912 G A g.101320912G>A ENST00000328767.5 c.83C>T p.Ser28Leu missense_variant benign SNU423 Missense Mutation TFDP1 chr13 114290899 114290899 T C g.114290899T>C ENST00000375370.5 c.890T>C p.Ile297Thr missense_variant benign SNU423 Missense Mutation STARD13 chr13 33703807 33703807 G A g.33703807G>A ENST00000336934.5 c.1007C>T p.Ser336Leu missense_variant benign SNU423 Missense Mutation KIAA0226L chr13 46952082 46952082 A G g.46952082A>G ENST00000322896.6 c.7T>C p.Ser3Pro missense_variant benign SNU423 Missense Mutation KIF26A chr14 104644214 104644214 T G g.104644214T>G ENST00000423312.2 c.5089T>G p.Ser1697Ala missense_variant benign SNU423 Missense Mutation OR4K15 chr14 20444101 20444101 A G g.20444101A>G ENST00000305051.5 c.424A>G p.Met142Val missense_variant possibly damaging SNU423 Missense Mutation PNP chr14 20944608 20944608 C T g.20944608C>T ENST00000361505.5 c.718C>T p.Leu240Phe missense_variant probably damaging SNU423 Missense Mutation RNASE2 chr14 21424361 21424361 G C g.21424361G>C ENST00000304625.2 c.431G>C p.Arg144Pro missense_variant possibly damaging SNU423 Missense Mutation RPGRIP1 chr14 21794240 21794240 A G g.21794240A>G ENST00000206660.6 c.2618A>G p.His873Arg missense_variant possibly damaging SNU423 Missense Mutation HECTD1 chr14 31626180 31626180 T A g.31626180T>A ENST00000399332.1 c.1798A>T p.Ile600Leu missense_variant possibly damaging SNU423 Missense Mutation BAZ1A chr14 35272067 35272067 A C g.35272067A>C ENST00000358716.4 c.854T>G p.Ile285Ser missense_variant benign SNU423 Missense Mutation TC2N chr14 92266636 92266636 G C g.92266636G>C ENST00000340892.5 c.550C>G p.Arg184Gly missense_variant benign SNU423 Missense Mutation TRPM1 chr15 31295101 31295101 G A g.31295101G>A ENST00000256552.6 c.3802C>T p.Arg1268Trp missense_variant probably damaging SNU423 Missense Mutation FMN1 chr15 33446185 33446185 C T g.33446185C>T ENST00000320930.7 c.931G>A p.D311N missense_variant benign SNU423 Missense Mutation GANC chr15 42600456 42600456 G A g.42600456G>A ENST00000318010.8 c.662G>A p.Gly221Glu missense_variant possibly damaging SNU423 Missense Mutation MAP1A chr15 43821596 43821596 G A g.43821596G>A ENST00000300231.5 c.7925G>A p.Arg2642Gln missense_variant possibly damaging SNU423 Missense Mutation CEP152 chr15 49031404 49031404 A G g.49031404A>G ENST00000380950.2 c.4175T>C p.Ile1392Thr missense_variant benign SNU423 Missense Mutation GALK2 chr15 49575784 49575784 C A g.49575784C>A ENST00000560031.1 c.625C>A p.Pro209Thr missense_variant probably damaging SNU423 Missense Mutation DMXL2 chr15 51773469 51773469 T C g.51773469T>C ENST00000251076.5 c.5834A>G p.Asn1945Ser missense_variant benign SNU423 Missense Mutation RBPMS2 chr15 65040737 65040737 C A g.65040737C>A ENST00000300069.4 c.448G>T p.Ala150Ser missense_variant benign SNU423 Missense Mutation SRRM2 chr16 2817599 2817599 C A g.2817599C>A ENST00000301740.8 c.7070C>A p.Thr2357Asn missense_variant possibly damaging SNU423 Missense Mutation SPATA31C1 chr9 90537077 90537077 G A g.90537077G>A NM_001145124.1 c.2255G>A p.Arg752Gln missense_variant possibly damaging SNU423 Missense Mutation BEAN1 chr16 66514612 66514612 C G g.66514612C>G ENST00000536005.2 c.564C>G p.His188Gln missense_variant benign SNU423 Missense Mutation RFWD3 chr16 74694951 74694951 T C g.74694951T>C ENST00000361070.4 c.397A>G p.Met133Val missense_variant benign SNU423 Missense Mutation CENPN chr16 81066193 81066193 A G g.81066193A>G ENST00000393335.3 c.956A>G p.Gln319Arg missense_variant damaging SNU423 Missense Mutation ZNF469 chr16 88495238 88495238 G A g.88495238G>A ENST00000437464.1 c.1360G>A p.Gly454Ser missense_variant benign SNU423 Missense Mutation CTU2 chr16 88781019 88781019 A C g.88781019A>C ENST00000312060.5 c.1226A>C p.Gln409Pro missense_variant probably damaging SNU423 Missense Mutation FANCA chr16 89865629 89865629 C A g.89865629C>A ENST00000389301.3 c.838G>T p.Ala280Ser missense_variant possibly damaging SNU423 Missense Mutation FLII chr17 18154216 18154216 T A g.18154216T>A ENST00000327031.4 c.1712A>T p.Tyr571Phe missense_variant benign SNU423 Missense Mutation RNF112 chr17 19316270 19316270 C T g.19316270C>T ENST00000461366.1 c.401C>T p.Ala134Val missense_variant probably damaging SNU423 Missense Mutation CNP chr17 40125658 40125658 C T g.40125658C>T ENST00000393892.3 c.982C>T p.Arg328Cys missense_variant probably damaging SNU423 Missense Mutation WNK4 chr17 40945619 40945619 G A g.40945619G>A ENST00000246914.5 c.2167G>A p.Glu723Lys missense_variant probably damaging SNU423 Missense Mutation SPATA20 chr17 48629395 48629395 A G g.48629395A>G ENST00000006658.6 c.1811A>G p.Tyr604Cys missense_variant probably damaging SNU423 Missense Mutation RNF43 chr17 56435684 56435684 T C g.56435684T>C ENST00000407977.2 c.1453A>G p.Ile485Val missense_variant benign SNU423 Missense Mutation MED13 chr17 60108964 60108964 G C g.60108964G>C ENST00000397786.2 c.850C>G p.Leu284Val missense_variant probably damaging SNU423 Missense Mutation SMURF2 chr17 62559019 62559019 T A g.62559019T>A ENST00000262435.9 c.1082A>T p.Glu361Val missense_variant possibly damaging SNU423 Missense Mutation NT5C chr17 73127798 73127798 G A g.73127798G>A ENST00000245552.2 c.5C>T p.Ala2Val missense_variant benign SNU423 Missense Mutation NLGN2 chr17 7320648 7320648 G A g.7320648G>A ENST00000302926.2 c.2038G>A p.Val680Met missense_variant possibly damaging SNU423 Missense Mutation PGS1 chr17 76410977 76410977 G T g.76410977G>T ENST00000262764.6 c.1420G>T p.Ala474Ser missense_variant benign SNU423 Missense Mutation FSCN2 chr17 79495784 79495784 G A g.79495784G>A ENST00000334850.7 c.227G>A p.Arg76His missense_variant probably damaging SNU423 Missense Mutation PIEZO2 chr18 10871313 10871313 C A g.10871313C>A ENST00000302079.6 c.430G>T p.Val144Phe missense_variant damaging SNU423 Missense Mutation MYOM1 chr18 3129295 3129295 G A g.3129295G>A ENST00000356443.4 c.2729C>T p.Pro910Leu missense_variant benign SNU423 Missense Mutation ELAC1 chr18 48513107 48513107 C G g.48513107C>G ENST00000269466.3 c.744C>G p.Ile248Met missense_variant possibly damaging SNU423 Missense Mutation CLUL1 chr18 627350 627350 C G g.627350C>G ENST00000338387.7 c.677C>G p.Pro226Arg missense_variant possibly damaging SNU423 Missense Mutation BEST2 chr19 12866259 12866259 G A g.12866259G>A ENST00000042931.1 c.703G>A p.Val235Met missense_variant probably damaging SNU423 Missense Mutation TRMT1 chr19 13226507 13226507 A G g.13226507A>G ENST00000221504.8 c.386T>C p.Leu129Pro missense_variant benign SNU423 Missense Mutation PODNL1 chr19 14046585 14046585 T C g.14046585T>C ENST00000339560.5 c.464A>G p.Asn155Ser missense_variant probably damaging SNU423 Missense Mutation PCSK4 chr19 1486956 1486956 C T g.1486956C>T ENST00000300954.5 c.964G>A p.Val322Met missense_variant probably damaging SNU423 Missense Mutation OR10H3 chr19 15853023 15853023 C T g.15853023C>T ENST00000305892.1 c.821C>T p.Ala274Val missense_variant benign SNU423 Missense Mutation NCAN chr19 19329894 19329894 C T g.19329894C>T ENST00000252575.6 c.244C>T p.Arg82Trp missense_variant possibly damaging SNU423 Missense Mutation ZNF93 chr19 20044137 20044137 G A g.20044137G>A ENST00000343769.5 c.373G>A p.Val125Met missense_variant possibly damaging SNU423 Missense Mutation NUDT19 chr19 33200127 33200127 T C g.33200127T>C ENST00000397061.3 c.751T>C p.Ser251Pro missense_variant probably damaging SNU423 Missense Mutation CEBPA chr19 33792578 33792578 C A g.33792578C>A ENST00000498907.2 c.743G>T p.Gly248Val missense_variant benign SNU423 Missense Mutation PPP1R37 chr19 45649266 45649266 C T g.45649266C>T ENST00000221462.4 c.1952C>T p.Pro651Leu missense_variant benign SNU423 Missense Mutation MEIS3 chr19 47922331 47922331 C T g.47922331C>T ENST00000331559.5 c.8G>A p.Arg3Gln missense_variant probably damaging SNU423 Missense Mutation KLK7 chr19 51480863 51480863 C T g.51480863C>T ENST00000391807.1 c.691G>A p.Asp231Asn missense_variant probably damaging SNU423 Missense Mutation KLK7 chr19 51485056 51485056 C T g.51485056C>T ENST00000391807.1 c.188G>A p.Arg63His missense_variant possibly damaging SNU423 Missense Mutation CTU1 chr19 51607408 51607408 C T g.51607408C>T ENST00000421832.2 c.419G>A p.Ser140Asn missense_variant possibly damaging SNU423 Missense Mutation SIGLEC5 chr19 52131143 52131143 C T g.52131143C>T ENST00000222107.4 c.941G>A p.Cys314Tyr missense_variant probably damaging SNU423 Missense Mutation ZNF808 chr19 53046580 53046580 T C g.53046580T>C ENST00000359798.4 c.43T>C p.Ser15Pro missense_variant benign SNU423 Missense Mutation ZNF83 chr19 53117679 53117679 C G g.53117679C>G ENST00000301096.3 c.139G>C p.Val47Leu missense_variant benign SNU423 Missense Mutation ZNF677 chr19 53741647 53741647 G C g.53741647G>C ENST00000333952.4 c.333C>G p.Asp111Glu missense_variant benign SNU423 Missense Mutation ZNF274 chr19 58718401 58718401 A G g.58718401A>G ENST00000326804.4 c.569A>G p.Q190R missense_variant benign SNU423 Missense Mutation ACER1 chr19 6306798 6306798 C T g.6306798C>T ENST00000301452.4 c.722G>A p.Arg241His missense_variant benign SNU423 Missense Mutation PALM chr19 746624 746624 C T g.746624C>T ENST00000338448.5 c.974C>T p.Thr325Met missense_variant probably damaging SNU423 Missense Mutation FBN3 chr19 8203181 8203181 G A g.8203181G>A ENST00000270509.2 c.1045C>T p.Arg349Trp missense_variant benign SNU423 Missense Mutation CERS4 chr19 8320563 8320563 C T g.8320563C>T ENST00000251363.5 c.364C>T p.Arg122Trp missense_variant probably damaging SNU423 Missense Mutation TGFBRAP1 chr2 105896951 105896951 C T g.105896951C>T ENST00000258449.1 c.1351G>A p.Ala451Thr missense_variant possibly damaging SNU423 Missense Mutation NIFK chr2 122489765 122489765 C A g.122489765C>A ENST00000285814.4 c.259G>T p.Gly87Cys missense_variant probably damaging SNU423 Missense Mutation ARHGEF4 chr2 131797659 131797659 G T g.131797659G>T ENST00000326016.5 c.818G>T p.Gly273Val missense_variant benign SNU423 Missense Mutation MCM6 chr2 136603916 136603916 A C g.136603916A>C ENST00000264156.2 c.2100T>G p.Asn700Lys missense_variant benign SNU423 Missense Mutation FMNL2 chr2 153485009 153485009 A G g.153485009A>G ENST00000288670.9 c.2362A>G p.Ile788Val missense_variant benign SNU423 Missense Mutation SCN7A chr2 167279909 167279909 T C g.167279909T>C ENST00000409855.1 c.2887A>G p.Thr963Ala missense_variant probably damaging SNU423 Missense Mutation XIRP2 chr2 168102394 168102394 A G g.168102394A>G ENST00000295237.9 c.4492A>G p.Thr1498Ala missense_variant possibly damaging SNU423 Missense Mutation GAD1 chr2 171686023 171686023 C T g.171686023C>T ENST00000344257.5 c.184C>T p.Arg62Cys missense_variant possibly damaging SNU423 Missense Mutation TTN chr2 179633630 179633630 A G g.179633630A>G ENST00000342992.6 c.8933T>C p.Ile2978Thr missense_variant probably damaging SNU423 Missense Mutation TTN chr2 179664556 179664556 T A g.179664556T>A ENST00000342175.6 c.665A>T p.Glu222Val missense_variant probably damaging SNU423 Missense Mutation C2orf47 chr2 200826555 200826555 A G g.200826555A>G ENST00000295079.2 c.701A>G p.Asn234Ser missense_variant benign SNU423 Missense Mutation ZDBF2 chr2 207174722 207174722 C T g.207174722C>T ENST00000374423.3 c.5470C>T p.Pro1824Ser missense_variant probably damaging SNU423 Missense Mutation CRYGB chr2 209010680 209010680 G A g.209010680G>A ENST00000260988.4 c.70C>T p.Pro24Ser missense_variant benign SNU423 Missense Mutation PIKFYVE chr2 209215633 209215633 G A g.209215633G>A ENST00000264380.4 c.5573G>A p.Arg1858Gln missense_variant probably damaging SNU423 Missense Mutation ABCA12 chr2 215845329 215845329 C T g.215845329C>T ENST00000272895.7 c.4618G>A p.Ala1540Thr missense_variant probably damaging SNU423 Missense Mutation PRKAG3 chr2 219688556 219688556 C T g.219688556C>T ENST00000233944.3 c.1399G>A p.Val467Met missense_variant,NMD_transcript_variant probably damaging SNU423 Missense Mutation OTOS chr2 241078607 241078607 C T g.241078607C>T ENST00000319460.1 c.250G>A p.Val84Ile missense_variant possibly damaging SNU423 Missense Mutation SUPT7L chr2 27880285 27880285 C T g.27880285C>T ENST00000337768.5 c.671G>A p.Gly224Asp missense_variant probably damaging SNU423 Missense Mutation DHX57 chr2 39095468 39095468 C T g.39095468C>T ENST00000295373.6 c.80G>A p.Arg27Lys missense_variant benign SNU423 Missense Mutation THADA chr2 43776440 43776440 G C g.43776440G>C ENST00000405006.4 c.3015C>G p.Asn1005Lys missense_variant benign SNU423 Missense Mutation ARHGAP25 chr2 69053166 69053166 A G g.69053166A>G ENST00000295381.3 c.1778A>G p.Asn586Ser missense_variant possibly damaging SNU423 Missense Mutation CCT7 chr2 73474909 73474909 G A g.73474909G>A ENST00000258091.5 c.638G>A p.Gly213Asp missense_variant probably damaging SNU423 Missense Mutation ALMS1 chr2 73746993 73746993 A G g.73746993A>G ENST00000264448.6 c.9628A>G p.K3210E missense_variant probably damaging SNU423 Missense Mutation LRRTM4 chr2 77746619 77746619 T C g.77746619T>C ENST00000409088.3 c.376A>G p.Asn126Asp missense_variant probably damaging SNU423 Missense Mutation CAPG chr2 85628322 85628322 T C g.85628322T>C ENST00000263867.4 c.482A>G p.Asn161Ser missense_variant probably damaging SNU423 Missense Mutation CIAO1 chr2 96932144 96932144 G C g.96932144G>C ENST00000488633.1 c.56G>C p.Cys19Ser missense_variant probably damaging SNU423 Missense Mutation FAM178B chr2 97633341 97633341 C T g.97633341C>T ENST00000490605.2 c.650G>A p.Arg217Gln missense_variant benign SNU423 Missense Mutation KIF3B chr20 30897660 30897660 C T g.30897660C>T ENST00000375712.3 c.80C>T p.Ser27Leu missense_variant possibly damaging SNU423 Missense Mutation DDRGK1 chr20 3180717 3180717 C T g.3180717C>T ENST00000354488.3 c.440G>A p.Arg147Gln missense_variant possibly damaging SNU423 Missense Mutation ZNF341 chr20 32378953 32378953 G A g.32378953G>A ENST00000342427.2 c.2174G>A p.Arg725His missense_variant probably damaging SNU423 Missense Mutation RBL1 chr20 35627308 35627308 T C g.35627308T>C ENST00000373664.3 c.3061A>G p.Ile1021Val missense_variant benign SNU423 Missense Mutation PCIF1 chr20 44576249 44576249 C T g.44576249C>T ENST00000372409.3 c.1970C>T p.Pro657Leu missense_variant possibly damaging SNU423 Missense Mutation OCSTAMP chr20 45170094 45170094 A G g.45170094A>G ENST00000279028.2 c.1520T>C p.Leu507Pro missense_variant benign SNU423 Missense Mutation EDN3 chr20 57876754 57876754 C A g.57876754C>A ENST00000311585.7 c.342C>A p.Asp114Glu missense_variant probably damaging SNU423 Missense Mutation EDN3 chr20 57896166 57896166 C T g.57896166C>T ENST00000311585.7 c.460C>T p.Arg154Trp missense_variant benign SNU423 Missense Mutation SLCO4A1 chr20 61288032 61288032 C T g.61288032C>T ENST00000217159.1 c.226C>T p.Arg76Trp missense_variant probably damaging SNU423 Missense Mutation COL20A1 chr20 61929301 61929301 G A g.61929301G>A ENST00000326996.6 c.122G>A p.Arg41Gln missense_variant benign SNU423 Missense Mutation COL20A1 chr20 61944497 61944497 C T g.61944497C>T ENST00000326996.6 c.2105C>T p.Ala702Val missense_variant probably damaging SNU423 Missense Mutation HELZ2 chr20 62199985 62199985 C T g.62199985C>T ENST00000467148.1 c.1456G>A p.Asp486Asn missense_variant probably damaging SNU423 Missense Mutation SOX18 chr20 62680006 62680006 A T g.62680006A>T ENST00000340356.7 c.668T>A p.Leu223Gln missense_variant probably damaging SNU423 Missense Mutation ARVCF chr22 19960533 19960533 G A g.19960533G>A ENST00000263207.3 c.2465C>T p.Ala822Val missense_variant probably damaging SNU423 Missense Mutation KIAA1671 chr22 25437155 25437155 G A g.25437155G>A ENST00000358431.3 c.4058G>A p.Arg1353Gln missense_variant benign SNU423 Missense Mutation TTC28 chr22 28426232 28426232 C T g.28426232C>T ENST00000397906.2 c.4055G>A p.Arg1352His missense_variant benign SNU423 Missense Mutation RHO chr3 129247700 129247700 G A g.129247700G>A ENST00000296271.3 c.124G>A p.Ala42Thr missense_variant probably damaging SNU423 Missense Mutation PIK3R4 chr3 130452809 130452809 C A g.130452809C>A ENST00000356763.3 c.1033G>T p.Val345Phe missense_variant possibly damaging SNU423 Missense Mutation TMEM108 chr3 133099522 133099522 G A g.133099522G>A ENST00000321871.6 c.967G>A p.Gly323Ser missense_variant benign SNU423 Missense Mutation PPP2R3A chr3 135863920 135863920 C T g.135863920C>T ENST00000264977.3 c.3365C>T p.Pro1122Leu missense_variant benign SNU423 Missense Mutation GHSR chr3 172162982 172162982 C T g.172162982C>T ENST00000241256.2 c.1070G>A p.Arg357Gln missense_variant possibly damaging SNU423 Missense Mutation KLHL18 chr3 47374789 47374789 G A g.47374789G>A ENST00000232766.5 c.743G>A p.Arg248His missense_variant benign SNU423 Missense Mutation VPRBP chr3 51517805 51517805 G A g.51517805G>A ENST00000335891.5 c.40C>T p.L14F missense_variant benign SNU423 Missense Mutation SUCLG2 chr3 67571026 67571026 T A g.67571026T>A ENST00000307227.5 c.450A>T p.Arg150Ser missense_variant probably damaging SNU423 Missense Mutation CLNK chr4 10502896 10502896 C A g.10502896C>A ENST00000226951.6 c.1124G>T p.Gly375Val missense_variant probably damaging SNU423 Missense Mutation BBS12 chr4 123663582 123663582 G A g.123663582G>A ENST00000314218.3 c.535G>A p.Val179Ile missense_variant benign SNU423 Missense Mutation LARP1B chr4 129099738 129099738 C A g.129099738C>A ENST00000326639.6 c.1837C>A p.Pro613Thr missense_variant possibly damaging SNU423 Missense Mutation FREM3 chr4 144620271 144620271 G A g.144620271G>A ENST00000329798.5 c.1558C>T p.Arg520Trp missense_variant damaging SNU423 Missense Mutation KIAA0922 chr4 154544140 154544140 G A g.154544140G>A ENST00000409663.3 c.3947G>A p.Arg1316His missense_variant probably damaging SNU423 Missense Mutation TLR2 chr4 154625242 154625242 A T g.154625242A>T ENST00000260010.6 c.1183A>T p.Arg395Trp missense_variant probably damaging SNU423 Missense Mutation FGA chr4 155505448 155505448 T C g.155505448T>C ENST00000302053.3 c.2429A>G p.Asn810Ser missense_variant benign SNU423 Missense Mutation GLRB chr4 158091771 158091771 C G g.158091771C>G ENST00000264428.4 c.1385C>G p.Ala462Gly missense_variant benign SNU423 Missense Mutation GLRA3 chr4 175636717 175636717 T A g.175636717T>A ENST00000274093.3 c.496A>T p.Thr166Ser missense_variant possibly damaging SNU423 Missense Mutation FAM149A chr4 187077279 187077279 T A g.187077279T>A ENST00000356371.5 c.1382T>A p.Val461Asp missense_variant probably damaging SNU423 Missense Mutation SLIT2 chr4 20255601 20255601 C A g.20255601C>A ENST00000273739.5 c.163C>A p.Arg55Ser missense_variant probably damaging SNU423 Missense Mutation TBC1D1 chr4 38046064 38046064 A G g.38046064A>G ENST00000261439.4 c.1495A>G p.Lys499Glu missense_variant possibly damaging SNU423 Missense Mutation UBA6 chr4 68527959 68527959 G A g.68527959G>A ENST00000322244.5 c.1052C>T p.Ser351Leu missense_variant benign SNU423 Missense Mutation TMPRSS11B chr4 69093651 69093651 A T g.69093651A>T ENST00000332644.5 c.1229T>A p.Ile410Asn missense_variant probably damaging SNU423 Missense Mutation UGT2B17 chr4 69403368 69403368 G T g.69403368G>T ENST00000317746.2 c.1568C>A p.Thr523Lys missense_variant benign SNU423 Missense Mutation GRSF1 chr4 71705294 71705294 G A g.71705294G>A ENST00000254799.6 c.251C>T p.Thr84Ile missense_variant benign SNU423 Missense Mutation MMRN1 chr4 90857730 90857730 G A g.90857730G>A ENST00000264790.2 c.2899G>A p.Val967Met missense_variant benign SNU423 Missense Mutation IDUA chr4 980948 980948 G A g.980948G>A ENST00000247933.4 c.76G>A p.Ala26Thr missense_variant benign SNU423 Missense Mutation STPG2 chr4 99027176 99027176 T A g.99027176T>A ENST00000295268.3 c.540A>T p.Arg180Ser missense_variant benign SNU423 Missense Mutation WDR36 chr5 110456258 110456258 A G g.110456258A>G ENST00000506538.2 c.2137A>G p.Ile713Val missense_variant benign SNU423 Missense Mutation FBN2 chr5 127681152 127681152 C G g.127681152C>G ENST00000262464.4 c.3114G>C p.Glu1038Asp missense_variant benign SNU423 Missense Mutation ADAMTS19 chr5 128797440 128797440 G T g.128797440G>T ENST00000274487.4 c.719G>T p.Gly240Val missense_variant probably damaging SNU423 Missense Mutation IL4 chr5 132018242 132018242 C T g.132018242C>T ENST00000231449.2 c.425C>T p.Thr142Met missense_variant benign SNU423 Missense Mutation PCDHB11 chr5 140580683 140580683 G A g.140580683G>A ENST00000354757.3 c.1336G>A p.Asp446Asn missense_variant probably damaging SNU423 Missense Mutation PCDHGA5 chr5 140744990 140744990 G A g.140744990G>A ENST00000518069.1 c.1093G>A p.Val365Ile missense_variant benign SNU423 Missense Mutation PCDHGA5 chr5 140745230 140745230 G C g.140745230G>C ENST00000518069.1 c.1333G>C p.Val445Leu missense_variant benign SNU423 Missense Mutation CSF1R chr5 149447798 149447798 G C g.149447798G>C ENST00000286301.3 c.1606C>G p.Leu536Val missense_variant probably damaging SNU423 Missense Mutation OR2Y1 chr5 180166742 180166742 G A g.180166742G>A ENST00000307832.2 c.317C>T p.Ala106Val missense_variant benign SNU423 Missense Mutation OR2V2 chr5 180582172 180582172 C A g.180582172C>A ENST00000328275.1 c.230C>A p.Thr77Asn missense_variant benign SNU423 Missense Mutation OR2V2 chr5 180582175 180582175 A T g.180582175A>T ENST00000328275.1 c.233A>T p.Asn78Ile missense_variant benign SNU423 Missense Mutation CCDC127 chr5 205648 205648 G A g.205648G>A ENST00000296824.3 c.547C>T p.Arg183Trp missense_variant probably damaging SNU423 Missense Mutation PDZD2 chr5 32088335 32088335 C T g.32088335C>T ENST00000282493.3 c.4781C>T p.Ser1594Leu missense_variant probably damaging SNU423 Missense Mutation DEPDC1B chr5 59901584 59901584 A G g.59901584A>G ENST00000265036.5 c.998T>C p.Met333Thr missense_variant possibly damaging SNU423 Missense Mutation SREK1 chr5 65449332 65449332 A G g.65449332A>G ENST00000334121.6 c.203A>G p.Lys68Arg missense_variant possibly damaging SNU423 Missense Mutation VCAN chr5 82816229 82816229 G A g.82816229G>A ENST00000265077.3 c.2104G>A p.Glu702Lys missense_variant probably damaging SNU423 Missense Mutation VCAN chr5 82837505 82837505 G C g.82837505G>C ENST00000265077.3 c.8683G>C p.Asp2895His missense_variant possibly damaging SNU423 Missense Mutation TRIP13 chr5 901513 901513 C G g.901513C>G ENST00000166345.3 c.502C>G p.Leu168Val missense_variant possibly damaging SNU423 Missense Mutation TTC37 chr5 94857963 94857963 T A g.94857963T>A ENST00000358746.2 c.1806A>T p.Glu602Asp missense_variant probably damaging SNU423 Missense Mutation SYNE1 chr6 152686022 152686022 T C g.152686022T>C ENST00000265368.4 c.10105A>G p.Met3369Val missense_variant benign SNU423 Missense Mutation NOX3 chr6 155750075 155750075 A C g.155750075A>C ENST00000159060.2 c.998T>G p.Leu333Arg missense_variant probably damaging SNU423 Missense Mutation ARID1B chr6 157527451 157527451 G A g.157527451G>A ENST00000350026.5 c.5137G>A p.Asp1713Asn missense_variant possibly damaging SNU423 Missense Mutation RSPH3 chr6 159420783 159420783 C G g.159420783C>G ENST00000252655.1 c.226G>C p.Ala76Pro missense_variant benign SNU423 Missense Mutation MLLT4 chr6 168303034 168303034 A G g.168303034A>G ENST00000344191.4 c.1618A>G p.Ile540Val missense_variant benign SNU423 Missense Mutation WDR27 chr6 170070763 170070763 C T g.170070763C>T ENST00000333572.6 c.358G>A p.Gly120Ser missense_variant possibly damaging SNU423 Missense Mutation KIF13A chr6 17771397 17771397 C T g.17771397C>T ENST00000259711.6 c.4529G>A p.Ser1510Asn missense_variant benign SNU423 Missense Mutation HIST1H1C chr6 26056085 26056085 T G g.26056085T>G ENST00000343677.2 c.572A>C p.Lys191Thr missense_variant possibly damaging SNU423 Missense Mutation PSMB9 chr6 32825784 32825784 T C g.32825784T>C ENST00000374859.2 c.263T>C p.Ile88Thr (Splice) missense_variant,splice_region_variant benign SNU423 Missense Mutation ITPR3 chr6 33655307 33655307 T G g.33655307T>G ENST00000374316.5 c.6230T>G p.Ile2077Ser missense_variant benign SNU423 Missense Mutation CPNE5 chr6 36762419 36762419 C T g.36762419C>T ENST00000244751.2 c.412G>A p.Ala138Thr missense_variant benign SNU423 Missense Mutation DNAH8 chr6 38704868 38704868 C A g.38704868C>A ENST00000359357.3 c.137C>A p.A46E missense_variant possibly damaging SNU423 Missense Mutation KIF6 chr6 39512337 39512337 C T g.39512337C>T ENST00000287152.7 c.1420G>A p.Glu474Lys missense_variant probably damaging SNU423 Missense Mutation CUL7 chr6 43016266 43016266 G A g.43016266G>A ENST00000265348.3 c.1867C>T p.Arg623Cys missense_variant possibly damaging SNU423 Missense Mutation HSP90AB1 chr6 44219997 44219997 T C g.44219997T>C ENST00000353801.3 c.1724T>C p.Val575Ala missense_variant probably damaging SNU423 Missense Mutation PLA2G7 chr6 46684169 46684169 A G g.46684169A>G ENST00000274793.7 c.328T>C p.Phe110Leu missense_variant benign SNU423 Missense Mutation IRAK1BP1 chr6 79608006 79608006 A G g.79608006A>G ENST00000369940.2 c.738A>G p.Ile246Met missense_variant benign SNU423 Missense Mutation C6orf165 chr6 88128054 88128054 A G g.88128054A>G ENST00000507897.1 c.760A>G p.Arg254Gly missense_variant benign SNU423 Missense Mutation TFR2 chr7 100231063 100231063 T C g.100231063T>C ENST00000223051.3 c.590A>G p.Tyr197Cys missense_variant probably damaging SNU423 Missense Mutation RELN chr7 103138354 103138354 G A g.103138354G>A ENST00000343529.5 c.8863C>T p.Arg2955Cys missense_variant probably damaging SNU423 Missense Mutation CFTR chr7 117251808 117251808 A G g.117251808A>G ENST00000003084.6 c.3313A>G p.Met1105Val missense_variant benign SNU423 Missense Mutation CFTR chr7 117306996 117306996 C T g.117306996C>T ENST00000003084.6 c.4277C>T p.Ser1426Phe missense_variant probably damaging SNU423 Missense Mutation PRRT4 chr7 127991440 127991440 A T g.127991440A>T ENST00000446477.2 c.2170T>A p.Ser724Thr missense_variant probably damaging SNU423 Missense Mutation EPHB6 chr7 142563328 142563328 C T g.142563328C>T ENST00000392957.2 c.1045C>T p.Pro349Ser missense_variant probably damaging SNU423 Missense Mutation ZBED6CL chr7 150028062 150028062 A C g.150028062A>C ENST00000343855.4 c.569A>C p.His190Pro missense_variant possibly damaging SNU423 Missense Mutation MYO1G chr7 45005794 45005794 C T g.45005794C>T ENST00000258787.7 c.2035G>A p.Gly679Arg missense_variant probably damaging SNU423 Missense Mutation ABCA13 chr7 48313843 48313843 T C g.48313843T>C ENST00000435803.1 c.4580T>C p.Leu1527Pro missense_variant probably damaging SNU423 Missense Mutation MIOS chr7 7635921 7635921 A G g.7635921A>G ENST00000340080.4 c.2230A>G p.Ile744Val missense_variant benign SNU423 Missense Mutation FGL2 chr7 76825931 76825931 G A g.76825931G>A ENST00000248598.5 c.985C>T p.Arg329Cys missense_variant probably damaging SNU423 Missense Mutation SEMA3A chr7 83764248 83764248 A T g.83764248A>T ENST00000265362.4 c.132T>A p.Asn44Lys missense_variant probably damaging SNU423 Missense Mutation GATAD1 chr7 92083904 92083904 A G g.92083904A>G ENST00000287957.3 c.524A>G p.Gln175Arg missense_variant probably damaging SNU423 Missense Mutation CALCR chr7 93098034 93098034 A C g.93098034A>C ENST00000360249.4 c.514T>G p.Phe172Val missense_variant benign SNU423 Missense Mutation COL1A2 chr7 94029584 94029584 C A g.94029584C>A ENST00000297268.6 c.209C>A p.Pro70His missense_variant probably damaging SNU423 Missense Mutation PPP1R9A chr7 94919484 94919484 C T g.94919484C>T ENST00000340694.4 c.3166C>T p.Arg1056Trp missense_variant probably damaging SNU423 Missense Mutation NPTX2 chr7 98257814 98257814 A G g.98257814A>G ENST00000265634.3 c.1169A>G p.Asn390Ser missense_variant benign SNU423 Missense Mutation PILRB chr7 99954279 99954279 A G g.99954279A>G ENST00000448382.1 c.56A>G p.His19Arg missense_variant NA SNU423 Missense Mutation LZTS1 chr8 20112472 20112472 G C g.20112472G>C ENST00000265801.6 c.221C>G p.Ala74Gly missense_variant benign SNU423 Missense Mutation SSPO chr7 149489396 149489396 G C g.149489396G>C NM_198455.2 c.5553G>C p.Cys1850Ser missense_variant probably damaging SNU423 Missense Mutation TGS1 chr8 56711720 56711720 C G g.56711720C>G ENST00000260129.5 c.1790C>G p.Pro597Arg missense_variant benign SNU423 Missense Mutation SBSPON chr8 73982176 73982176 A C g.73982176A>C ENST00000297354.6 c.541T>G p.Cys181Gly missense_variant probably damaging SNU423 Missense Mutation MATN2 chr8 98954080 98954080 G C g.98954080G>C ENST00000254898.5 c.788G>C p.Arg263Thr missense_variant possibly damaging SNU423 Missense Mutation TAL2 chr9 108424974 108424974 C T g.108424974C>T ENST00000334077.3 c.197C>T p.Thr66Met missense_variant possibly damaging SNU423 Missense Mutation OR1L3 chr9 125437661 125437661 T G g.125437661T>G ENST00000304820.2 c.253T>G p.Phe85Val missense_variant probably damaging SNU423 Missense Mutation TRUB2 chr9 131084653 131084653 A T g.131084653A>T ENST00000372890.4 c.35T>A p.Leu12His missense_variant probably damaging SNU423 Missense Mutation LAMC3 chr9 133943480 133943480 C T g.133943480C>T ENST00000361069.4 c.2609C>T p.Pro870Leu missense_variant benign SNU423 Missense Mutation UBAC1 chr9 138838202 138838202 G C g.138838202G>C ENST00000371756.3 c.457C>G p.Arg153Gly missense_variant probably damaging SNU423 Missense Mutation ADAMTSL1 chr9 18775780 18775780 G A g.18775780G>A ENST00000380548.4 c.2437G>A p.Ala813Thr missense_variant possibly damaging SNU423 Missense Mutation APTX chr9 32989810 32989810 A G g.32989810A>G ENST00000309615.3 c.122T>C p.Ile41Thr missense_variant benign SNU423 Missense Mutation UBAP1 chr9 34234306 34234306 C G g.34234306C>G ENST00000297661.4 c.127C>G p.Pro43Ala missense_variant possibly damaging SNU423 Missense Mutation PRUNE2 chr9 79321524 79321524 T C g.79321524T>C ENST00000376718.3 c.5666A>G p.Asp1889Gly missense_variant benign SNU423 Missense Mutation AGTPBP1 chr9 88248022 88248022 G A g.88248022G>A ENST00000376083.3 c.1450C>T p.His484Tyr missense_variant benign SNU423 Missense Mutation CENPP chr9 95094557 95094557 T G g.95094557T>G ENST00000375587.3 c.213T>G p.Ser71Arg missense_variant benign SNU423 Missense Mutation MROH5 chr8 142459776 142459776 C G g.142459776C>G ENST00000430863.1 c.2551G>C p.Ala851Pro missense_variant probably damaging SNU423 Missense Mutation AVPR2 chrX 153171709 153171709 G A g.153171709G>A ENST00000337474.5 c.749G>A p.Gly250Glu missense_variant benign SNU423 Missense Mutation AVPR2 chrX 153171711 153171711 C G g.153171711C>G ENST00000337474.5 c.751C>G p.Arg251Gly missense_variant benign SNU423 Missense Mutation POLA1 chrX 24732709 24732709 G A g.24732709G>A ENST00000379059.3 c.367G>A p.Val123Ile missense_variant benign SNU423 Missense Mutation PCDH11X chrX 91090604 91090604 T G g.91090604T>G ENST00000298274.8 c.101T>G p.Met34Arg missense_variant possibly damaging SNU449 Missense Mutation WDR3 chr1 118481173 118481173 C T g.118481173C>T ENST00000349139.5 c.571C>T p.Arg191Trp missense_variant probably damaging SNU449 Missense Mutation TCHH chr1 152083976 152083976 C T g.152083976C>T ENST00000368804.1 c.1717G>A p.Glu573Lys missense_variant benign SNU449 Missense Mutation NPR1 chr1 153651622 153651622 G T g.153651622G>T ENST00000368680.3 c.38G>T p.Arg13Leu missense_variant benign SNU449 Missense Mutation CRTC2 chr1 153923872 153923872 G C g.153923872G>C ENST00000368633.1 c.1268C>G p.Ala423Gly missense_variant possibly damaging SNU449 Missense Mutation CD1D chr1 158152727 158152727 G C g.158152727G>C ENST00000368171.3 c.667G>C p.Val223Leu missense_variant probably damaging SNU449 Missense Mutation ARHGAP30 chr1 161018629 161018629 T G g.161018629T>G ENST00000368013.3 c.2182A>C p.Ser728Arg missense_variant benign SNU449 Missense Mutation CD247 chr1 167407839 167407839 G A g.167407839G>A ENST00000362089.5 c.268C>T p.Arg90Cys missense_variant probably damaging SNU449 Missense Mutation SCYL3 chr1 169823662 169823662 C A g.169823662C>A ENST00000367770.1 c.1918G>T p.Val640Leu missense_variant benign SNU449 Missense Mutation KIFAP3 chr1 169952413 169952413 T C g.169952413T>C ENST00000361580.2 c.1504A>G p.Ile502Val (Splice) missense_variant,splice_region_variant benign SNU449 Missense Mutation MROH9 chr1 170993603 170993603 A G g.170993603A>G ENST00000367759.4 c.1976A>G p.Tyr659Cys missense_variant probably damaging SNU449 Missense Mutation SUCO chr1 172579065 172579065 A G g.172579065A>G ENST00000263688.3 c.3431A>G p.Gln1144Arg missense_variant possibly damaging SNU449 Missense Mutation ENAH chr1 225706905 225706905 C G g.225706905C>G ENST00000366843.2 c.797G>C p.Ser266Thr missense_variant benign SNU449 Missense Mutation OBSCN chr1 228402024 228402024 G T g.228402024G>T ENST00000284548.11 c.1408G>T p.Ala470Ser missense_variant benign SNU449 Missense Mutation RASSF10 chr11 13031542 13031542 C T g.13031542C>T NM_001080521.2 c.419C>T p.Pro140Leu missense_variant probably damaging SNU449 Missense Mutation DNAJC6 chr1 65851433 65851433 C G g.65851433C>G ENST00000395325.3 c.668C>G p.Pro223Arg missense_variant probably damaging SNU449 Missense Mutation IL23R chr1 67724660 67724660 C T g.67724660C>T ENST00000347310.5 c.1739C>T p.Pro580Leu missense_variant benign SNU449 Missense Mutation CAMTA1 chr1 7725149 7725149 G A g.7725149G>A ENST00000303635.7 c.2542G>A p.Val848Ile missense_variant probably damaging SNU449 Missense Mutation USP33 chr1 78191442 78191442 T C g.78191442T>C ENST00000357428.1 c.1234A>G p.Ile412Val missense_variant benign SNU449 Missense Mutation SYDE2 chr1 85630370 85630370 C A g.85630370C>A ENST00000341460.5 c.2924G>T p.Cys975Phe missense_variant possibly damaging SNU449 Missense Mutation COL24A1 chr1 86591759 86591759 T C g.86591759T>C ENST00000370571.2 c.260A>G p.Asp87Gly missense_variant benign SNU449 Missense Mutation SFXN3 chr10 102795363 102795363 C T g.102795363C>T ENST00000224807.5 c.283C>T p.Arg95Cys missense_variant probably damaging SNU449 Missense Mutation DPCD chr10 103369197 103369197 A G g.103369197A>G ENST00000370151.4 c.581A>G p.His194Arg missense_variant benign SNU449 Missense Mutation C10orf76 chr10 103735022 103735022 T C g.103735022T>C ENST00000370033.4 c.1442A>G p.Tyr481Cys missense_variant probably damaging SNU449 Missense Mutation AS3MT chr10 104632270 104632270 G A g.104632270G>A ENST00000369880.3 c.236G>A p.Ser79Asn missense_variant probably damaging SNU449 Missense Mutation SORCS1 chr10 108466383 108466383 C T g.108466383C>T ENST00000263054.6 c.1153G>A p.Gly385Arg missense_variant probably damaging SNU449 Missense Mutation RBM20 chr10 112583361 112583361 G A g.112583361G>A ENST00000369519.3 c.3440G>A p.Ser1147Asn missense_variant possibly damaging SNU449 Missense Mutation PRDX3 chr10 120933382 120933382 G T g.120933382G>T ENST00000298510.2 c.314C>A p.Thr105Asn (Splice) missense_variant,splice_region_variant probably damaging SNU449 Missense Mutation CAMK1D chr10 12811700 12811700 A G g.12811700A>G ENST00000378845.1 c.467A>G p.Asp156Gly missense_variant benign SNU449 Missense Mutation BEND7 chr10 13489286 13489286 C T g.13489286C>T ENST00000396900.2 c.1214G>A p.Gly405Asp missense_variant benign SNU449 Missense Mutation SKIDA1 chr10 21805040 21805040 A T g.21805040A>T ENST00000449193.2 c.1712T>A p.Ile571Asn missense_variant possibly damaging SNU449 Missense Mutation MTPAP chr10 30615488 30615488 G C g.30615488G>C ENST00000263063.4 c.857C>G p.Ser286Cys missense_variant probably damaging SNU449 Missense Mutation MSMB chr10 51562391 51562391 G T g.51562391G>T ENST00000358559.2 c.336G>T p.Trp112Cys missense_variant probably damaging SNU449 Missense Mutation JMJD1C chr10 64967260 64967260 G A g.64967260G>A ENST00000399262.2 c.4169C>T p.Thr1390Met missense_variant benign SNU449 Missense Mutation ITIH5 chr10 7605141 7605141 C T g.7605141C>T ENST00000256861.6 c.2734G>A p.A912T missense_variant probably damaging SNU449 Missense Mutation DYDC1 chr10 82102079 82102079 T A g.82102079T>A ENST00000372202.1 c.288A>T p.Glu96Asp missense_variant possibly damaging SNU449 Missense Mutation LRIT1 chr10 85993904 85993904 G T g.85993904G>T ENST00000372105.3 c.820C>A p.Arg274Ser missense_variant probably damaging SNU449 Missense Mutation PTEN chr10 89717696 89717696 T C g.89717696T>C ENST00000371953.3 c.721T>C p.Phe241Leu missense_variant benign SNU449 Missense Mutation NOC3L chr10 96104662 96104662 C T g.96104662C>T ENST00000371350.1 c.1418G>A p.Arg473Gln missense_variant probably damaging SNU449 Missense Mutation ARHGAP19 chr10 99025738 99025738 C A g.99025738C>A ENST00000358531.4 c.201G>T p.Arg67Ser missense_variant probably damaging SNU449 Missense Mutation MMP1 chr11 102667510 102667510 G T g.102667510G>T ENST00000315274.6 c.510C>A p.Asp170Glu missense_variant probably damaging SNU449 Missense Mutation CASP4 chr11 104821821 104821821 T C g.104821821T>C ENST00000417440.2 c.377A>G p.Tyr126Cys missense_variant probably damaging SNU449 Missense Mutation NPAT chr11 108043798 108043798 T C g.108043798T>C ENST00000278612.8 c.1913A>G p.Asp638Gly missense_variant benign SNU449 Missense Mutation KMT2A chr11 118307445 118307445 G A g.118307445G>A ENST00000354520.4 c.218G>A p.Gly73Glu missense_variant benign SNU449 Missense Mutation UPK2 chr11 118827665 118827665 C A g.118827665C>A ENST00000264031.2 c.149C>A p.Pro50His missense_variant probably damaging SNU449 Missense Mutation C2CD2L chr11 118983270 118983270 C T g.118983270C>T ENST00000336702.3 c.1163C>T p.Thr388Ile missense_variant benign SNU449 Missense Mutation USP2 chr11 119244103 119244103 A T g.119244103A>T ENST00000260187.2 c.88T>A p.Tyr30Asn missense_variant probably damaging SNU449 Missense Mutation ARHGEF12 chr11 120352044 120352044 C G g.120352044C>G ENST00000397843.2 c.4313C>G p.Thr1438Ser missense_variant benign SNU449 Missense Mutation OTOG chr11 17574940 17574940 C A g.17574940C>A ENST00000399397.1 c.231C>A p.Ser150Arg missense_variant NA SNU449 Missense Mutation KCNQ1 chr11 2608803 2608803 G T g.2608803G>T ENST00000155840.5 c.1132G>T p.Ala378Ser missense_variant possibly damaging SNU449 Missense Mutation RAG2 chr11 36614820 36614820 C T g.36614820C>T ENST00000311485.3 c.899G>A p.Arg300His missense_variant benign SNU449 Missense Mutation LRRC4C chr11 40136681 40136681 T C g.40136681T>C ENST00000278198.2 c.1162A>G p.Thr388Ala missense_variant probably damaging SNU449 Missense Mutation SYT13 chr11 45265772 45265772 G A g.45265772G>A ENST00000020926.3 c.1112C>T p.Ala371Val missense_variant probably damaging SNU449 Missense Mutation EHD1 chr11 64622327 64622327 T G g.64622327T>G ENST00000320631.3 c.1083A>C p.Glu361Asp (Splice) missense_variant,splice_region_variant benign SNU449 Missense Mutation DCHS1 chr11 6644457 6644457 G T g.6644457G>T ENST00000299441.3 c.8450C>A p.Ala2817Asp missense_variant benign SNU449 Missense Mutation RBMXL2 chr11 7111450 7111450 C T g.7111450C>T ENST00000306904.5 c.1099C>T p.Arg367Trp missense_variant probably damaging SNU449 Missense Mutation MAP6 chr11 75298141 75298141 G C g.75298141G>C ENST00000304771.3 c.2405C>G p.Thr802Ser missense_variant probably damaging SNU449 Missense Mutation DGAT2 chr11 75480116 75480116 A G g.75480116A>G ENST00000228027.7 c.80A>G p.His27Arg missense_variant benign SNU449 Missense Mutation RIC3 chr11 8161612 8161612 C T g.8161612C>T ENST00000309737.6 c.253G>A p.Gly85Ser missense_variant possibly damaging SNU449 Missense Mutation ANKRD42 chr11 82947464 82947464 T C g.82947464T>C ENST00000393392.2 c.848T>C p.Ile283Thr missense_variant possibly damaging SNU449 Missense Mutation ANKS1B chr12 100169385 100169385 T C g.100169385T>C ENST00000329257.7 c.902A>G p.Asp301Gly missense_variant benign SNU449 Missense Mutation UHRF1BP1L chr12 100492312 100492312 C T g.100492312C>T ENST00000279907.7 c.346G>A p.Gly116Ser missense_variant possibly damaging SNU449 Missense Mutation KLRK1 chr12 10532068 10532068 T G g.10532068T>G ENST00000240618.6 c.255A>C p.Gln85His missense_variant possibly damaging SNU449 Missense Mutation KIAA1033 chr12 105558041 105558041 C A g.105558041C>A ENST00000332180.5 c.3310C>A p.Gln1104Lys missense_variant probably damaging SNU449 Missense Mutation FICD chr12 108912638 108912638 G A g.108912638G>A ENST00000552695.1 c.763G>A p.Gly255Arg missense_variant probably damaging SNU449 Missense Mutation SART3 chr12 108942978 108942978 C T g.108942978C>T ENST00000228284.3 c.325G>A p.Val109Ile missense_variant benign SNU449 Missense Mutation FBXW8 chr12 117383247 117383247 G T g.117383247G>T ENST00000309909.5 c.502G>T p.Asp168Tyr missense_variant benign SNU449 Missense Mutation GCN1L1 chr12 120582580 120582580 T C g.120582580T>C ENST00000300648.6 c.5215A>G p.Ile1739Val missense_variant benign SNU449 Missense Mutation SIRT4 chr12 120741854 120741854 A G g.120741854A>G ENST00000202967.4 c.490A>G p.Met164Val missense_variant benign SNU449 Missense Mutation HNF1A chr12 121434456 121434456 C T g.121434456C>T ENST00000257555.6 c.1220C>T p.Ser407Leu missense_variant benign SNU449 Missense Mutation ATF7IP chr12 14577598 14577598 C A g.14577598C>A ENST00000261168.4 c.749C>A p.Ala250Asp missense_variant possibly damaging SNU449 Missense Mutation ERP27 chr12 15067714 15067714 T G g.15067714T>G ENST00000266397.2 c.777A>C p.Lys259Asn (Splice) missense_variant,splice_region_variant benign SNU449 Missense Mutation LRRK2 chr12 40668755 40668755 G C g.40668755G>C ENST00000298910.7 c.1901G>C p.Ser634Thr missense_variant benign SNU449 Missense Mutation ARID2 chr12 46231138 46231138 A C g.46231138A>C ENST00000334344.6 c.1058A>C p.His353Pro missense_variant probably damaging SNU449 Missense Mutation DYRK4 chr12 4702176 4702176 A C g.4702176A>C ENST00000010132.5 c.127A>C p.Lys43Gln missense_variant benign SNU449 Missense Mutation GALNT8 chr12 4835967 4835967 C T g.4835967C>T ENST00000252318.2 c.481C>T p.Arg161Cys missense_variant probably damaging SNU449 Missense Mutation KCNA5 chr12 5153588 5153588 C G g.5153588C>G ENST00000252321.3 c.275C>G p.Pro92Arg missense_variant benign SNU449 Missense Mutation KRT5 chr12 52912766 52912766 C T g.52912766C>T ENST00000252242.4 c.734G>A p.Arg245Lys missense_variant benign SNU449 Missense Mutation KRT74 chr12 52962049 52962049 C T g.52962049C>T ENST00000305620.2 c.1259G>A p.Arg420Gln missense_variant possibly damaging SNU449 Missense Mutation TIMELESS chr12 56817399 56817399 T C g.56817399T>C ENST00000553532.1 c.2059A>G p.Lys687Glu missense_variant benign SNU449 Missense Mutation MYO1A chr12 57422943 57422943 C T g.57422943C>T ENST00000300119.3 c.2978G>A p.Arg993Lys missense_variant benign SNU449 Missense Mutation CYP27B1 chr12 58158820 58158820 C T g.58158820C>T ENST00000228606.4 c.764G>A p.Arg255Gln missense_variant benign SNU449 Missense Mutation CDCA3 chr12 6958801 6958801 G A g.6958801G>A ENST00000422785.3 c.472C>T p.Pro158Ser missense_variant benign SNU449 Missense Mutation ZFC3H1 chr12 72057075 72057075 G A g.72057075G>A ENST00000378743.3 c.316C>T p.Pro106Ser missense_variant benign SNU449 Missense Mutation CARKD chr13 111274680 111274680 A G g.111274680A>G ENST00000309957.2 c.218A>G p.Asp73Gly missense_variant benign SNU449 Missense Mutation SACS chr13 23915521 23915521 A G g.23915521A>G ENST00000382292.3 c.2494T>C p.Ser832Pro missense_variant benign SNU449 Missense Mutation LNX2 chr13 28155636 28155636 A C g.28155636A>C ENST00000316334.3 c.205T>G p.Phe69Val missense_variant probably damaging SNU449 Missense Mutation MTUS2 chr13 29599263 29599263 G T g.29599263G>T ENST00000431530.3 c.458G>T p.Ser153Ile missense_variant possibly damaging SNU449 Missense Mutation NEK3 chr13 52726781 52726781 T C g.52726781T>C ENST00000258597.5 c.356A>G p.His119Arg missense_variant,NMD_transcript_variant probably damaging SNU449 Missense Mutation LMO7 chr13 76383307 76383307 A G g.76383307A>G ENST00000321797.8 c.1235A>G p.Tyr412Cys missense_variant probably damaging SNU449 Missense Mutation DEGS2 chr14 100615828 100615828 C T g.100615828C>T ENST00000305631.5 c.302G>A p.Arg101His missense_variant possibly damaging SNU449 Missense Mutation ZNF839 chr14 102807818 102807818 T C g.102807818T>C ENST00000442396.2 c.2086T>C p.Ser696Pro missense_variant benign SNU449 Missense Mutation AP1G2 chr14 24031771 24031771 A G g.24031771A>G ENST00000308724.5 c.1442T>C p.Ile481Thr missense_variant probably damaging SNU449 Missense Mutation RBM25 chr14 73572618 73572618 G C g.73572618G>C ENST00000261973.7 c.1206G>C p.Glu402Asp missense_variant benign SNU449 Missense Mutation ISM2 chr14 77942242 77942242 G A g.77942242G>A ENST00000342219.4 c.1412C>T p.Thr471Met missense_variant possibly damaging SNU449 Missense Mutation NPAP1 chr15 24921904 24921904 T A g.24921904T>A ENST00000329468.2 c.890T>A p.Met297Lys missense_variant possibly damaging SNU449 Missense Mutation DUOX2 chr15 45391892 45391892 C T g.45391892C>T ENST00000389039.6 c.3383G>A p.Arg1128His missense_variant probably damaging SNU449 Missense Mutation PEAK1 chr15 77407219 77407219 A C g.77407219A>C ENST00000312493.4 c.4520T>G p.Leu1507Arg missense_variant probably damaging SNU449 Missense Mutation RASGRF1 chr15 79284037 79284037 A G g.79284037A>G ENST00000419573.3 c.3175T>C p.Tyr1059His missense_variant probably damaging SNU449 Missense Mutation C16orf91 chr16 1470717 1470717 C G g.1470717C>G ENST00000442039.2 c.8G>C p.Arg3Pro missense_variant damaging SNU449 Missense Mutation KIAA0430 chr16 15729838 15729838 A G g.15729838A>G ENST00000396368.3 c.506T>C p.Leu169Ser missense_variant possibly damaging SNU449 Missense Mutation ZNF598 chr16 2051095 2051095 C T g.2051095C>T ENST00000431526.1 c.1111G>A p.Gly371Ser missense_variant benign SNU449 Missense Mutation PRSS36 chr16 31154294 31154294 G T g.31154294G>T ENST00000268281.4 c.1121C>A p.Pro374Gln missense_variant possibly damaging SNU449 Missense Mutation ITGAD chr16 31434445 31434445 T C g.31434445T>C ENST00000389202.2 c.2791T>C p.Ser931Pro missense_variant probably damaging SNU449 Missense Mutation DECR2 chr16 461507 461507 G T g.461507G>T ENST00000219481.5 c.808G>T p.Gly270Trp missense_variant probably damaging SNU449 Missense Mutation CCL17 chr16 57447890 57447890 G A g.57447890G>A ENST00000219244.4 c.46G>A p.Ala16Thr missense_variant benign SNU449 Missense Mutation GPR97 chr16 57702267 57702267 C T g.57702267C>T ENST00000333493.4 c.8C>T p.Thr3Met missense_variant benign SNU449 Missense Mutation ZFHX3 chr16 72832153 72832153 C T g.72832153C>T ENST00000268489.5 c.4428G>A p.Met1476Ile missense_variant possibly damaging SNU449 Missense Mutation ZNF469 chr16 88497176 88497176 G C g.88497176G>C ENST00000437464.1 c.3214G>C p.Glu1072Gln missense_variant probably damaging SNU449 Missense Mutation SLC47A1 chr17 19463565 19463565 T G g.19463565T>G ENST00000270570.4 c.986T>G p.Met329Arg missense_variant benign SNU449 Missense Mutation BLMH chr17 28618427 28618427 T C g.28618427T>C ENST00000261714.6 c.113A>G p.Asp38Gly missense_variant possibly damaging SNU449 Missense Mutation KLHL10 chr17 39994201 39994201 C T g.39994201C>T ENST00000293303.4 c.17C>T p.Ala6Val missense_variant benign SNU449 Missense Mutation SPNS2 chr17 4434027 4434027 A G g.4434027A>G ENST00000329078.3 c.674A>G p.Asn225Ser missense_variant benign SNU449 Missense Mutation SCPEP1 chr17 55058535 55058535 T C g.55058535T>C ENST00000262288.3 c.169T>C p.Tyr57His missense_variant probably damaging SNU449 Missense Mutation MARCH10 chr17 60837224 60837224 C G g.60837224C>G ENST00000311269.5 c.354G>C p.Glu118Asp missense_variant benign SNU449 Missense Mutation FAM57A chr17 644610 644610 C T g.644610C>T ENST00000308278.8 c.574C>T p.Arg192Trp missense_variant probably damaging SNU449 Missense Mutation PITPNC1 chr17 65688943 65688943 C T g.65688943C>T ENST00000335257.6 c.938C>T p.Ala313Val missense_variant benign SNU449 Missense Mutation FBXO39 chr17 6690637 6690637 A G g.6690637A>G ENST00000321535.4 c.1219A>G p.Arg407Gly missense_variant possibly damaging SNU449 Missense Mutation TTYH2 chr17 72218633 72218633 T C g.72218633T>C ENST00000269346.4 c.139T>C p.Phe47Leu missense_variant benign SNU449 Missense Mutation ZBTB4 chr17 7369817 7369817 A C g.7369817A>C ENST00000311403.4 c.304T>G p.Ser102Ala missense_variant benign SNU449 Missense Mutation TP53 chr17 7578449 7578449 C T g.7578449C>T ENST00000269305.4 c.481G>A p.Ala161Thr missense_variant probably damaging SNU449 Missense Mutation DNAH17 chr17 76490800 76490800 G A g.76490800G>A NM_173628.3 c.6145C>T p.Arg2044Trp missense_variant damaging SNU449 Missense Mutation DSG4 chr18 28993380 28993380 C A g.28993380C>A ENST00000308128.4 c.2945C>A p.Thr982Lys missense_variant benign SNU449 Missense Mutation MYOM1 chr18 3155020 3155020 T C g.3155020T>C ENST00000261606.7 c.1568A>G p.Lys523Arg missense_variant probably damaging SNU449 Missense Mutation DCC chr18 50705442 50705442 C T g.50705442C>T ENST00000442544.2 c.1529C>T p.Pro510Leu missense_variant possibly damaging SNU449 Missense Mutation EMR2 chr19 14863326 14863326 C T g.14863326C>T ENST00000315576.3 c.1603G>A p.Val535Met missense_variant possibly damaging SNU449 Missense Mutation AKAP8L chr19 15508635 15508635 G A g.15508635G>A ENST00000397410.5 c.1189C>T p.Arg397Trp missense_variant probably damaging SNU449 Missense Mutation PGLS chr19 17622503 17622503 C T g.17622503C>T ENST00000252603.2 c.22C>T p.Leu8Phe missense_variant benign SNU449 Missense Mutation JSRP1 chr19 2254250 2254250 C T g.2254250C>T ENST00000300961.6 c.198G>A p.Met66Ile missense_variant benign SNU449 Missense Mutation ZNF98 chr19 22574445 22574445 G A g.22574445G>A ENST00000357774.5 c.1592C>T p.Ser531Phe missense_variant probably damaging SNU449 Missense Mutation ZNF99 chr19 22941667 22941667 T A g.22941667T>A ENST00000397104.3 c.771A>T p.Lys348Asn missense_variant probably damaging SNU449 Missense Mutation ZNF91 chr19 23545321 23545321 A G g.23545321A>G ENST00000300619.7 c.460T>C p.F154L missense_variant possibly damaging SNU449 Missense Mutation GPATCH1 chr19 33602719 33602719 G A g.33602719G>A ENST00000170564.2 c.1675G>A p.Ala559Thr missense_variant benign SNU449 Missense Mutation ETV2 chr19 36133944 36133944 G A g.36133944G>A ENST00000402764.2 c.232G>A p.Ala78Thr missense_variant benign SNU449 Missense Mutation HKR1 chr19 37853571 37853571 C T g.37853571C>T ENST00000324411.4 c.874C>T p.Pro292Ser missense_variant benign SNU449 Missense Mutation ZFP30 chr19 38126057 38126057 C T g.38126057C>T ENST00000351218.2 c.1385G>A p.Gly462Asp missense_variant probably damaging SNU449 Missense Mutation LGALS4 chr19 39299422 39299422 A C g.39299422A>C ENST00000307751.4 c.301T>G p.Phe101Val missense_variant probably damaging SNU449 Missense Mutation C19orf47 chr19 40834394 40834394 C A g.40834394C>A ENST00000582783.1 c.476G>T p.R159L missense_variant probably damaging SNU449 Missense Mutation SPTBN4 chr19 41025859 41025859 C T g.41025859C>T ENST00000338932.3 c.3455C>T p.Ala1152Val missense_variant benign SNU449 Missense Mutation ZNF155 chr19 44501361 44501361 C T g.44501361C>T ENST00000270014.2 c.1352C>T p.Thr451Met missense_variant possibly damaging SNU449 Missense Mutation ZNF226 chr19 44680283 44680283 T C g.44680283T>C ENST00000337433.5 c.868T>C p.Cys290Arg missense_variant benign SNU449 Missense Mutation TOMM40 chr19 45397110 45397110 C G g.45397110C>G ENST00000252487.5 c.509C>G p.Pro170Arg missense_variant benign SNU449 Missense Mutation ARHGAP35 chr19 47422747 47422747 C T g.47422747C>T ENST00000404338.3 c.815C>T p.Thr272Ile missense_variant benign SNU449 Missense Mutation C5AR2 chr19 47844754 47844754 C T g.47844754C>T ENST00000257267.2 c.698C>T p.Pro233Leu missense_variant possibly damaging SNU449 Missense Mutation DHX34 chr19 47878859 47878859 G A g.47878859G>A ENST00000328771.4 c.2201G>A p.Arg734His missense_variant probably damaging SNU449 Missense Mutation ZNF534 chr19 52938429 52938429 G C g.52938429G>C ENST00000332323.6 c.277G>C p.Asp93His missense_variant benign SNU449 Missense Mutation KIR3DL3 chr19 55241078 55241078 G A g.55241078G>A ENST00000291860.1 c.775G>A p.Ala259Thr missense_variant benign SNU449 Missense Mutation KIR3DL1 chr19 55333062 55333062 A C g.55333062A>C ENST00000326542.7 c.698A>C p.Lys233Thr missense_variant benign SNU449 Missense Mutation KIR3DL1 chr19 55333068 55333068 A T g.55333068A>T ENST00000326542.7 c.704A>T p.Gln235Leu missense_variant benign SNU449 Missense Mutation BSG chr19 580428 580428 G A g.580428G>A ENST00000333511.3 c.622G>A p.Glu208Lys missense_variant possibly damaging SNU449 Missense Mutation ZSCAN18 chr19 58596123 58596123 C A g.58596123C>A ENST00000240727.6 c.1462G>T p.Ala488Ser missense_variant benign SNU449 Missense Mutation MYO1F chr19 8619600 8619600 C T g.8619600C>T ENST00000338257.8 c.169G>A p.Val57Ile missense_variant possibly damaging SNU449 Missense Mutation MUC16 chr19 9075213 9075213 C T g.9075213C>T ENST00000397910.4 c.12233G>A p.Arg4078Lys missense_variant possibly damaging SNU449 Missense Mutation TUBA3D chr2 132238191 132238191 C A g.132238191C>A ENST00000321253.6 c.925C>A p.His309Asn missense_variant benign SNU449 Missense Mutation CYBRD1 chr2 172409920 172409920 T C g.172409920T>C ENST00000321348.4 c.467T>C p.Met156Thr missense_variant probably damaging SNU449 Missense Mutation TTN chr2 179404384 179404384 A G g.179404384A>G ENST00000591111.1 c.93485T>C p.Leu31162Pro missense_variant probably damaging SNU449 Missense Mutation FAM171B chr2 187608238 187608238 C G g.187608238C>G ENST00000304698.5 c.501C>G p.Phe167Leu missense_variant benign SNU449 Missense Mutation STK17B chr2 197021194 197021194 T A g.197021194T>A ENST00000263955.4 c.304A>T p.Asn102Tyr missense_variant possibly damaging SNU449 Missense Mutation ACADL chr2 211089981 211089981 C A g.211089981C>A ENST00000233710.3 c.7G>T p.Ala3Ser missense_variant benign SNU449 Missense Mutation ZNF142 chr2 219507935 219507935 C T g.219507935C>T ENST00000411696.2 c.3304G>A p.Ala1102Thr missense_variant benign SNU449 Missense Mutation WNT6 chr2 219735937 219735937 A G g.219735937A>G ENST00000233948.3 c.269A>G p.His90Arg missense_variant benign SNU449 Missense Mutation MOGAT1 chr2 223553186 223553186 G T g.223553186G>T ENST00000446656.3 c.218G>T p.Ser73Ile missense_variant benign SNU449 Missense Mutation ALPI chr2 233321074 233321074 C T g.233321074C>T ENST00000295463.3 c.83C>T p.Pro28Leu missense_variant probably damaging SNU449 Missense Mutation EFHD1 chr2 233527607 233527607 G C g.233527607G>C ENST00000264059.3 c.398G>C p.Ser133Thr missense_variant benign SNU449 Missense Mutation UGT1A5 chr2 234622316 234622316 G T g.234622316G>T ENST00000373414.3 c.679G>T p.Val227Phe missense_variant benign SNU449 Missense Mutation CAPN10 chr2 241536294 241536294 A G g.241536294A>G ENST00000391984.2 c.1678A>G p.Thr560Ala missense_variant benign SNU449 Missense Mutation C2orf16 chr2 27803593 27803593 G T g.27803593G>T ENST00000408964.2 c.4154G>T p.Trp1385Leu missense_variant benign SNU449 Missense Mutation CLIP4 chr2 29383259 29383259 T C g.29383259T>C ENST00000320081.5 c.1460T>C p.Leu487Pro missense_variant benign SNU449 Missense Mutation ALK chr2 29917825 29917825 A T g.29917825A>T ENST00000389048.3 c.843T>A p.His281Gln missense_variant benign SNU449 Missense Mutation PLEKHH2 chr2 43933484 43933484 A G g.43933484A>G ENST00000282406.4 c.1750A>G p.Thr584Ala missense_variant benign SNU449 Missense Mutation DQX1 chr2 74750505 74750505 G C g.74750505G>C ENST00000393951.2 c.976C>G p.Leu326Val missense_variant benign SNU449 Missense Mutation SDCBP2 chr20 1300277 1300277 C A g.1300277C>A ENST00000339987.3 c.81G>T p.Met27Ile missense_variant benign SNU449 Missense Mutation CST2 chr20 23804698 23804698 C T g.23804698C>T ENST00000304725.2 c.385G>A p.Asp129Asn missense_variant benign SNU449 Missense Mutation NINL chr20 25457051 25457051 T A g.25457051T>A ENST00000278886.6 c.2876A>T p.Glu959Val missense_variant benign SNU449 Missense Mutation AHCY chr20 32868874 32868874 T A g.32868874T>A ENST00000217426.2 c.1265A>T p.Asp422Val missense_variant benign SNU449 Missense Mutation ITCH chr20 33068908 33068908 T G g.33068908T>G ENST00000374864.4 c.1990T>G p.Phe705Val missense_variant probably damaging SNU449 Missense Mutation GSS chr20 33523426 33523426 C T g.33523426C>T ENST00000216951.2 c.787G>A p.Val263Met missense_variant probably damaging SNU449 Missense Mutation TTPAL chr20 43117968 43117968 A C g.43117968A>C ENST00000262605.4 c.815A>C p.Lys272Thr missense_variant benign SNU449 Missense Mutation ARFGEF2 chr20 47589751 47589751 G A g.47589751G>A ENST00000371917.4 c.1595G>A p.Arg532His missense_variant probably damaging SNU449 Missense Mutation DPM1 chr20 49552746 49552746 C G g.49552746C>G ENST00000371588.5 c.617G>C p.Gly206Ala missense_variant probably damaging SNU449 Missense Mutation LAMA5 chr20 60911800 60911800 G A g.60911800G>A ENST00000252999.3 c.2207C>T p.Ala736Val missense_variant benign SNU449 Missense Mutation KRTAP25-1 chr21 31661707 31661707 T A g.31661707T>A ENST00000416044.1 c.102A>T p.Gln34His missense_variant benign SNU449 Missense Mutation KRTAP19-8 chr21 32410755 32410755 T C g.32410755T>C ENST00000382822.2 c.8A>G p.Tyr3Cys missense_variant benign SNU449 Missense Mutation INPP5J chr22 31530145 31530145 T C g.31530145T>C ENST00000404390.3 c.1657T>C p.Ser553Pro missense_variant benign SNU449 Missense Mutation PRR14L chr22 32099541 32099541 T C g.32099541T>C ENST00000327423.6 c.5995A>G p.Lys1999Glu missense_variant probably damaging SNU449 Missense Mutation APOBEC3F chr22 39441064 39441064 C T g.39441064C>T ENST00000308521.5 c.290C>T p.Pro97Leu missense_variant benign SNU449 Missense Mutation GPR128 chr3 100362472 100362472 C T g.100362472C>T ENST00000273352.3 c.941C>T p.Thr314Met missense_variant possibly damaging SNU449 Missense Mutation DPPA4 chr3 109052800 109052800 G C g.109052800G>C ENST00000335658.6 c.95C>G p.Ala32Gly missense_variant probably damaging SNU449 Missense Mutation CD96 chr3 111304209 111304209 C T g.111304209C>T ENST00000283285.5 c.839C>T p.Thr280Met missense_variant benign SNU449 Missense Mutation SLC9C1 chr3 111996677 111996677 C T g.111996677C>T ENST00000305815.5 c.349G>A p.Val117Ile missense_variant benign SNU449 Missense Mutation SEMA5B chr3 122631767 122631767 G T g.122631767G>T ENST00000357599.3 c.2648C>A p.Pro883Gln missense_variant probably damaging SNU449 Missense Mutation MYLK chr3 123457877 123457877 C T g.123457877C>T ENST00000346322.5 c.455G>A p.Arg152His missense_variant probably damaging SNU449 Missense Mutation COL6A5 chr3 130116627 130116627 C T g.130116627C>T ENST00000265379.6 c.3769C>T p.Pro1257Ser missense_variant benign SNU449 Missense Mutation CLDN18 chr3 137749822 137749822 G A g.137749822G>A ENST00000183605.5 c.625G>A p.Val209Ile missense_variant possibly damaging SNU449 Missense Mutation XPC chr3 14188857 14188857 C G g.14188857C>G ENST00000285021.7 c.2537G>C p.Gly846Ala missense_variant benign SNU449 Missense Mutation TRPC1 chr3 142462351 142462351 A G g.142462351A>G ENST00000476941.1 c.352A>G p.I118V missense_variant benign SNU449 Missense Mutation HPS3 chr3 148858872 148858872 C T g.148858872C>T ENST00000296051.2 c.781C>T p.Leu261Phe missense_variant benign SNU449 Missense Mutation TM4SF4 chr3 149192827 149192827 A G g.149192827A>G ENST00000305354.4 c.163A>G p.Ser55Gly missense_variant benign SNU449 Missense Mutation HACL1 chr3 15628072 15628072 C T g.15628072C>T ENST00000321169.5 c.419G>A p.Arg140His missense_variant probably damaging SNU449 Missense Mutation VEPH1 chr3 157082153 157082153 T C g.157082153T>C ENST00000362010.2 c.1276A>G p.Ile426Val missense_variant benign SNU449 Missense Mutation SLC25A38 chr3 39431957 39431957 C T g.39431957C>T ENST00000273158.4 c.235C>T p.Arg79Cys missense_variant probably damaging SNU449 Missense Mutation TOPAZ1 chr3 44308592 44308592 C T g.44308592C>T ENST00000309765.4 c.3124C>T p.Arg1042Cys missense_variant benign SNU449 Missense Mutation FYCO1 chr3 46009952 46009952 T A g.46009952T>A ENST00000296137.2 c.874A>T p.Thr292Ser missense_variant benign SNU449 Missense Mutation PBRM1 chr3 52637638 52637638 T C g.52637638T>C ENST00000296302.7 c.2678A>G p.Tyr893Cys missense_variant probably damaging SNU449 Missense Mutation SFMBT1 chr3 52968878 52968878 C T g.52968878C>T ENST00000296295.6 c.404G>A p.Arg135Gln missense_variant benign SNU449 Missense Mutation CACNA1D chr3 53757544 53757544 G T g.53757544G>T ENST00000350061.5 c.1750G>T p.Val584Phe missense_variant benign SNU449 Missense Mutation SSUH2 chr3 8667325 8667325 C T g.8667325C>T ENST00000317371.4 c.710G>A p.Ser237Asn missense_variant benign SNU449 Missense Mutation CRYBG3 chr3 97591549 97591549 C G g.97591549C>G ENST00000419587.2 c.1511C>G p.Thr504Arg missense_variant unknown SNU449 Missense Mutation RPUSD3 chr3 9880768 9880768 A T g.9880768A>T ENST00000383820.5 c.812T>A p.Val271Asp missense_variant benign SNU449 Missense Mutation INTS12 chr4 106604350 106604350 A G g.106604350A>G ENST00000340139.5 c.929T>C p.Leu310Ser missense_variant possibly damaging SNU449 Missense Mutation RXFP1 chr4 159568305 159568305 G T g.159568305G>T ENST00000307765.5 c.1708G>T p.Asp570Tyr missense_variant benign SNU449 Missense Mutation MARCH1 chr4 164534530 164534530 T C g.164534530T>C ENST00000274056.7 c.178A>G p.Thr60Ala missense_variant benign SNU449 Missense Mutation SH3BP2 chr4 2835541 2835541 G A g.2835541G>A ENST00000356331.5 c.1666G>A p.Gly556Ser missense_variant probably damaging SNU449 Missense Mutation TLR1 chr4 38798591 38798591 C T g.38798591C>T ENST00000308979.2 c.1862G>A p.Arg621His missense_variant benign SNU449 Missense Mutation ATP10D chr4 47560254 47560254 T G g.47560254T>G ENST00000273859.3 c.2398T>G p.Ser800Ala missense_variant possibly damaging SNU449 Missense Mutation C4orf40 chr4 71024102 71024102 C T g.71024102C>T ENST00000344526.5 c.133C>T p.Arg45Trp missense_variant probably damaging SNU449 Missense Mutation UTP3 chr4 71555613 71555613 G A g.71555613G>A ENST00000254803.2 c.1219G>A p.Ala407Thr missense_variant benign SNU449 Missense Mutation DMP1 chr4 88583873 88583873 G C g.88583873G>C ENST00000339673.6 c.943G>C p.Gly315Arg missense_variant benign SNU449 Missense Mutation MEGF10 chr5 126732229 126732229 G A g.126732229G>A ENST00000274473.6 c.418G>A p.Asp140Asn missense_variant probably damaging SNU449 Missense Mutation TGFBI chr5 135392437 135392437 A G g.135392437A>G ENST00000305126.8 c.1631A>G p.Asn544Ser missense_variant benign SNU449 Missense Mutation PCDHA13 chr5 140264134 140264134 G T g.140264134G>T ENST00000289272.2 c.2281G>T p.Gly761Trp missense_variant damaging SNU449 Missense Mutation PCDHB4 chr5 140502480 140502480 A G g.140502480A>G ENST00000194152.1 c.900A>G p.Ile300Met missense_variant benign SNU449 Missense Mutation PCDHB17 chr5 140536729 140536729 T C g.140536729T>C ENST00000539533.1 c.1153T>C p.S385P missense_variant probably damaging SNU449 Missense Mutation PCDHGB6 chr5 140787964 140787964 G C g.140787964G>C ENST00000520790.1 c.195G>C p.Lys65Asn missense_variant benign SNU449 Missense Mutation FAM105B chr5 14693048 14693048 C T g.14693048C>T ENST00000284274.4 c.950C>T p.Thr317Ile missense_variant probably damaging SNU449 Missense Mutation GABRB2 chr5 160973640 160973640 C G g.160973640C>G ENST00000274547.2 c.10G>C p.Val4Leu missense_variant benign SNU449 Missense Mutation MYO10 chr5 16704730 16704730 G A g.16704730G>A ENST00000513610.1 c.2234C>T p.Ala745Val missense_variant probably damaging SNU449 Missense Mutation CDH9 chr5 26885960 26885960 T C g.26885960T>C ENST00000231021.4 c.1645A>G p.Ile549Val missense_variant benign SNU449 Missense Mutation C1QTNF3 chr5 34020705 34020705 G C g.34020705G>C ENST00000231338.7 c.724C>G p.Leu242Val missense_variant possibly damaging SNU449 Missense Mutation MROH2B chr5 41010109 41010109 T C g.41010109T>C ENST00000399564.4 c.3208A>G p.Ile1070Val missense_variant benign SNU449 Missense Mutation MAP1B chr5 71493965 71493965 G T g.71493965G>T ENST00000296755.7 c.4783G>T p.Val1595Leu missense_variant probably damaging SNU449 Missense Mutation WDR41 chr5 76734131 76734131 C T g.76734131C>T ENST00000296679.4 c.938G>A p.Arg313His missense_variant benign SNU449 Missense Mutation VCAN chr5 82833368 82833368 A G g.82833368A>G ENST00000265077.3 c.4546A>G p.Lys1516Glu missense_variant benign SNU449 Missense Mutation C6orf203 chr6 107372328 107372328 T G g.107372328T>G ENST00000311381.5 c.611T>G p.Met204Arg missense_variant probably damaging SNU449 Missense Mutation TMEM200A chr6 130762915 130762915 A T g.130762915A>T ENST00000296978.3 c.1348A>T p.Ile450Phe missense_variant benign SNU449 Missense Mutation UST chr6 149262511 149262511 G A g.149262511G>A ENST00000367463.4 c.388G>A p.Gly130Arg missense_variant possibly damaging SNU449 Missense Mutation AKAP12 chr6 151670943 151670943 G A g.151670943G>A ENST00000253332.1 c.1417G>A p.Gly473Arg missense_variant possibly damaging SNU449 Missense Mutation LPA chr6 160969618 160969618 T C g.160969618T>C ENST00000316300.5 c.5047A>G p.Ile1683Val missense_variant benign SNU449 Missense Mutation HIST1H1C chr6 26056289 26056289 G A g.26056289G>A ENST00000343677.2 c.368C>T p.Ala123Val missense_variant benign SNU449 Missense Mutation HIST1H4E chr6 26205165 26205165 T C g.26205165T>C ENST00000360441.4 c.293T>C p.Leu98Pro missense_variant probably damaging SNU449 Missense Mutation OR2B6 chr6 27925301 27925301 C G g.27925301C>G ENST00000244623.1 c.283C>G p.Arg95Gly missense_variant benign SNU449 Missense Mutation KCNK17 chr6 39267450 39267450 A T g.39267450A>T ENST00000373231.4 c.752T>A p.Phe251Tyr missense_variant probably damaging SNU449 Missense Mutation MUC17 chr7 100680549 100680549 C T g.100680549C>T ENST00000306151.4 c.5852C>T p.Ala1951Val missense_variant benign SNU449 Missense Mutation CFTR chr7 117243663 117243663 C T g.117243663C>T ENST00000003084.6 c.2735C>T p.Ser912Leu missense_variant benign SNU449 Missense Mutation UNCX chr7 1275505 1275505 A T g.1275505A>T ENST00000316333.8 c.488A>T p.Lys163Met missense_variant probably damaging SNU449 Missense Mutation KIAA1549 chr7 138522868 138522868 G A g.138522868G>A ENST00000422774.1 c.5636C>T p.Pro1879Leu missense_variant damaging SNU449 Missense Mutation MICALL2 chr7 1481968 1481968 C G g.1481968C>G ENST00000297508.7 c.1571G>C p.Ser524Thr missense_variant benign SNU449 Missense Mutation ATG9B chr7 150714154 150714154 G C g.150714154G>C ENST00000377974.2 c.2258C>G p.P753R missense_variant probably damaging SNU449 Missense Mutation INTS1 chr7 1542623 1542623 G A g.1542623G>A ENST00000404767.3 c.263C>T p.Ala88Val missense_variant benign SNU449 Missense Mutation LRRC72 chr7 16598574 16598574 T C g.16598574T>C ENST00000401542.2 c.377T>C p.Ile126Thr missense_variant damaging SNU449 Missense Mutation DNAH11 chr7 21813561 21813561 G A g.21813561G>A ENST00000409508.3 c.9280G>A p.Glu3094Lys missense_variant benign SNU449 Missense Mutation KLHL7 chr7 23205529 23205529 A C g.23205529A>C ENST00000339077.5 c.1149A>C p.Lys383Asn missense_variant probably damaging SNU449 Missense Mutation C7orf31 chr7 25194725 25194725 T G g.25194725T>G ENST00000283905.3 c.500A>C p.Glu167Ala missense_variant benign SNU449 Missense Mutation PKD1L1 chr7 47847961 47847961 T C g.47847961T>C ENST00000289672.2 c.7711A>G p.Thr2571Ala missense_variant benign SNU449 Missense Mutation CYTH3 chr7 6205037 6205037 G A g.6205037G>A ENST00000350796.3 c.994C>T p.Pro332Ser missense_variant benign SNU449 Missense Mutation TYW1 chr7 66514976 66514976 G A g.66514976G>A ENST00000359626.5 c.1025G>A p.Arg342Lys missense_variant benign SNU449 Missense Mutation AKAP9 chr7 91712512 91712512 A G g.91712512A>G ENST00000358100.2 c.8225A>G p.Gln2742Arg missense_variant benign SNU449 Missense Mutation ZNF655 chr7 99170171 99170171 A C g.99170171A>C ENST00000252713.4 c.440A>C p.Asp147Ala missense_variant benign SNU449 Missense Mutation ZNF3 chr7 99673206 99673206 C T g.99673206C>T ENST00000299667.4 c.103G>A p.Asp35Asn missense_variant benign SNU449 Missense Mutation C7orf43 chr7 99752645 99752645 G A g.99752645G>A ENST00000316937.3 c.1732C>T p.Pro578Ser missense_variant benign SNU449 Missense Mutation VPS13B chr8 100796564 100796564 G A g.100796564G>A ENST00000358544.2 c.7876G>A p.Glu2626Lys missense_variant probably damaging SNU449 Missense Mutation CYP11B2 chr8 143994007 143994007 C A g.143994007C>A ENST00000323110.2 c.1337G>T p.Gly446Val missense_variant probably damaging SNU449 Missense Mutation EPPK1 chr8 144941477 144941477 G A g.144941477G>A ENST00000525985.1 c.5945C>T p.A1982V missense_variant possibly damaging SNU449 Missense Mutation PLEC chr8 144998335 144998335 C T g.144998335C>T ENST00000322810.4 c.6173G>A p.Arg2058Gln missense_variant probably damaging SNU449 Missense Mutation BMP1 chr8 22037261 22037261 G A g.22037261G>A ENST00000306349.8 c.880G>A p.Gly294Arg missense_variant possibly damaging SNU449 Missense Mutation ADAM28 chr8 24170983 24170983 T C g.24170983T>C ENST00000265769.4 c.466T>C p.Phe156Leu missense_variant probably damaging SNU449 Missense Mutation TACC1 chr8 38677151 38677151 A G g.38677151A>G ENST00000317827.4 c.389A>G p.His130Arg missense_variant benign SNU449 Missense Mutation NSMAF chr8 59498262 59498262 C T g.59498262C>T ENST00000038176.3 c.2608G>A p.Val870Ile missense_variant possibly damaging SNU449 Missense Mutation ASPH chr8 62577925 62577925 A T g.62577925A>T ENST00000389204.4 c.563T>A p.Met188Lys missense_variant damaging SNU449 Missense Mutation MSC chr8 72756085 72756085 T G g.72756085T>G ENST00000325509.4 c.329A>C p.Asn110Thr missense_variant possibly damaging SNU449 Missense Mutation RBM12B chr8 94746393 94746393 C T g.94746393C>T ENST00000399300.2 c.2246G>A p.Arg749Gln missense_variant benign SNU449 Missense Mutation DPY19L4 chr8 95752008 95752008 G A g.95752008G>A ENST00000414645.2 c.601G>A p.Val201Ile missense_variant benign SNU449 Missense Mutation BAAT chr9 104130442 104130442 T C g.104130442T>C ENST00000259407.2 c.629A>G p.Tyr210Cys missense_variant probably damaging SNU449 Missense Mutation ABCA1 chr9 107623989 107623989 T C g.107623989T>C ENST00000374736.3 c.514A>G p.Met172Val missense_variant benign SNU449 Missense Mutation OR1L4 chr9 125487161 125487161 T C g.125487161T>C ENST00000259466.1 c.893T>C p.Met298Thr missense_variant benign SNU449 Missense Mutation OR1K1 chr9 125563110 125563110 C T g.125563110C>T ENST00000277309.2 c.709C>T p.Arg237Trp missense_variant probably damaging SNU449 Missense Mutation PBX3 chr9 128510881 128510881 T C g.128510881T>C ENST00000342287.5 c.253T>C p.Cys85Arg missense_variant probably damaging SNU449 Missense Mutation DOLK chr9 131708621 131708621 T C g.131708621T>C ENST00000372586.3 c.962A>G p.Lys321Arg missense_variant benign SNU449 Missense Mutation FCN2 chr9 137777088 137777088 C T g.137777088C>T ENST00000291744.6 c.305C>T p.Pro102Leu missense_variant possibly damaging SNU449 Missense Mutation RABL6 chr9 139734874 139734874 G A g.139734874G>A ENST00000311502.7 c.2090G>A p.Arg697His missense_variant probably damaging SNU449 Missense Mutation FBXW5 chr9 139836786 139836786 C A g.139836786C>A ENST00000325285.3 c.808G>T p.Gly270Cys missense_variant possibly damaging SNU449 Missense Mutation C9orf173 chr9 140146519 140146519 C G g.140146519C>G ENST00000388931.3 c.335C>G p.Pro112Arg missense_variant probably damaging SNU449 Missense Mutation TLN1 chr9 35707384 35707384 G T g.35707384G>T ENST00000314888.9 c.4734C>A p.Asn1578Lys missense_variant possibly damaging SNU449 Missense Mutation RNF38 chr9 36351142 36351142 A C g.36351142A>C ENST00000259605.6 c.1233T>G p.Asp411Glu missense_variant benign SNU449 Missense Mutation HNRNPK chr9 86588860 86588860 G A g.86588860G>A ENST00000351839.3 c.359C>T p.Thr120Ile missense_variant possibly damaging SNU449 Missense Mutation SSPO chr7 149522994 149522994 C T g.149522994C>T NM_198455.2 c.14232C>T p.Pro4738Leu missense_variant probably damaging SNU449 Missense Mutation ACSL4 chrX 108911437 108911437 G A g.108911437G>A ENST00000340800.2 c.1331C>T p.Ala444Val missense_variant probably damaging SNU449 Missense Mutation ATP6AP2 chrX 40460057 40460057 T C g.40460057T>C ENST00000378438.4 c.782T>C p.Val261Ala missense_variant probably damaging SNU449 Missense Mutation FAM104B chrX 55172659 55172659 A G g.55172659A>G ENST00000358460.4 c.206T>C p.Ile69Thr missense_variant benign SNU475 Missense Mutation AGL chr1 100346860 100346860 T G g.100346860T>G ENST00000294724.4 c.2014T>G p.Ser672Ala missense_variant benign SNU475 Missense Mutation PIFO chr1 111893921 111893921 T C g.111893921T>C ENST00000369738.4 c.548T>C p.Val183Ala missense_variant possibly damaging SNU475 Missense Mutation IVL chr1 152882758 152882758 A G g.152882758A>G ENST00000368764.3 c.485A>G p.His162Arg missense_variant possibly damaging SNU475 Missense Mutation NPR1 chr1 153651594 153651594 C T g.153651594C>T ENST00000368680.3 c.10C>T p.Pro4Ser missense_variant benign SNU475 Missense Mutation UBAP2L chr1 154221895 154221895 C T g.154221895C>T ENST00000343815.6 c.1195C>T p.Pro399Ser missense_variant benign SNU475 Missense Mutation FHAD1 chr1 15679377 15679377 C T g.15679377C>T ENST00000358897.4 c.2393C>T p.Ser798Leu missense_variant benign SNU475 Missense Mutation INSRR chr1 156816453 156816453 C G g.156816453C>G ENST00000368195.3 c.1668G>C p.Gln556His missense_variant probably damaging SNU475 Missense Mutation AIM1L chr1 26672371 26672371 C T g.26672371C>T ENST00000475866.2 c.778G>A p.Gly260Arg missense_variant unknown SNU475 Missense Mutation TRMT1L chr1 185125655 185125655 C T g.185125655C>T ENST00000367506.5 c.190G>A p.Ala64Thr missense_variant benign SNU475 Missense Mutation UBR4 chr1 19487604 19487604 G C g.19487604G>C ENST00000375217.2 c.5213C>G p.Ser1738Cys missense_variant probably damaging SNU475 Missense Mutation MINOS1 chr1 19949995 19949995 C G g.19949995C>G ENST00000322753.6 c.140C>G p.Ser47Cys missense_variant probably damaging SNU475 Missense Mutation IGFN1 chr1 201181729 201181729 G T g.201181729G>T ENST00000335211.4 c.7708G>T p.Gly2570Trp missense_variant damaging SNU475 Missense Mutation RNF186 chr1 20141292 20141292 G T g.20141292G>T ENST00000375121.2 c.303C>A p.Asp101Glu missense_variant probably damaging SNU475 Missense Mutation VWA5B1 chr1 20640961 20640961 A C g.20640961A>C ENST00000289815.8 c.439A>C p.Thr147Pro missense_variant probably damaging SNU475 Missense Mutation C1orf116 chr1 207196627 207196627 G A g.207196627G>A ENST00000359470.5 c.482C>T p.Pro161Leu missense_variant benign SNU475 Missense Mutation DNAH14 chr1 225239246 225239246 G A g.225239246G>A ENST00000430092.1 c.2173G>A p.Ala725Thr missense_variant probably damaging SNU475 Missense Mutation OBSCN chr1 228505423 228505423 C T g.228505423C>T ENST00000284548.11 c.13820C>T p.Pro4607Leu missense_variant probably damaging SNU475 Missense Mutation PGBD5 chr1 230459215 230459215 C T g.230459215C>T NM_001258311.1 c.1531G>A p.Val511Ile missense_variant possibly damaging SNU475 Missense Mutation C1orf168 chr1 57189268 57189268 C T g.57189268C>T ENST00000343433.6 c.1967G>A p.Arg656Lys missense_variant benign SNU475 Missense Mutation TNFRSF9 chr1 8000035 8000035 T C g.8000035T>C ENST00000377507.3 c.20A>G p.Asn7Ser missense_variant benign SNU475 Missense Mutation COL24A1 chr1 86591297 86591297 T G g.86591297T>G ENST00000370571.2 c.722A>C p.Gln241Pro missense_variant benign SNU475 Missense Mutation CCDC18 chr1 93721899 93721899 A T g.93721899A>T ENST00000557479.1 c.3704A>T p.Lys1235Ile missense_variant probably damaging SNU475 Missense Mutation SLK chr10 105762746 105762746 G C g.105762746G>C ENST00000335753.4 c.1810G>C p.Glu604Gln missense_variant benign SNU475 Missense Mutation ARMC3 chr10 23319586 23319586 C T g.23319586C>T ENST00000298032.5 c.2107C>T p.Pro703Ser missense_variant benign SNU475 Missense Mutation ANKRD30A chr10 37422912 37422912 T A g.37422912T>A ENST00000361713.1 c.518T>A p.Val173Asp missense_variant probably damaging SNU475 Missense Mutation WDFY4 chr10 50098628 50098628 C T g.50098628C>T ENST00000325239.5 c.7172C>T p.Thr2391Met missense_variant probably damaging SNU475 Missense Mutation MSMB chr10 51556831 51556831 G A g.51556831G>A ENST00000358559.2 c.190G>A p.Glu64Lys missense_variant benign SNU475 Missense Mutation AKR1C4 chr10 5242247 5242247 T A g.5242247T>A ENST00000263126.1 c.188T>A p.Leu63Gln missense_variant benign SNU475 Missense Mutation ZWINT chr10 58118381 58118381 G A g.58118381G>A ENST00000373944.3 c.728C>T p.Pro243Leu missense_variant benign SNU475 Missense Mutation JMJD1C chr10 64966940 64966940 T G g.64966940T>G ENST00000399262.2 c.4489A>C p.Ser1497Arg missense_variant probably damaging SNU475 Missense Mutation HERC4 chr10 69682825 69682825 C T g.69682825C>T ENST00000395198.3 c.3037G>A p.Gly1013Arg missense_variant benign SNU475 Missense Mutation TET1 chr10 70404467 70404467 A C g.70404467A>C ENST00000373644.4 c.1981A>C p.Asn661His missense_variant benign SNU475 Missense Mutation SGPL1 chr10 72617373 72617373 G A g.72617373G>A ENST00000373202.3 c.412G>A p.Ala138Thr (Splice) missense_variant,splice_region_variant benign SNU475 Missense Mutation LARP4B chr10 871230 871230 T C g.871230T>C ENST00000316157.3 c.1259A>G p.His420Arg missense_variant benign SNU475 Missense Mutation KIF20B chr10 91469811 91469811 A G g.91469811A>G ENST00000260753.4 c.479A>G p.Tyr160Cys missense_variant probably damaging SNU475 Missense Mutation C10orf12 chr10 98744262 98744262 G A g.98744262G>A ENST00000286067.2 c.3115G>A p.Val1039Ile missense_variant possibly damaging SNU475 Missense Mutation GRIA4 chr11 105795185 105795185 T A g.105795185T>A ENST00000282499.5 c.1537T>A p.Phe513Ile missense_variant probably damaging SNU475 Missense Mutation PCSK7 chr11 117097957 117097957 C A g.117097957C>A ENST00000320934.3 c.685G>T p.Gly229Cys missense_variant probably damaging SNU475 Missense Mutation ROBO4 chr11 124761351 124761351 T C g.124761351T>C ENST00000306534.3 c.1792A>G p.Ser598Gly missense_variant benign SNU475 Missense Mutation OSBPL5 chr11 3122916 3122916 G C g.3122916G>C ENST00000263650.7 c.1439C>G p.Pro480Arg missense_variant probably damaging SNU475 Missense Mutation OSBPL5 chr11 3122917 3122917 G T g.3122917G>T ENST00000263650.7 c.1438C>A p.Pro480Thr missense_variant probably damaging SNU475 Missense Mutation CD44 chr11 35250777 35250777 T G g.35250777T>G ENST00000428726.2 c.2126T>G p.Met709Arg missense_variant probably damaging SNU475 Missense Mutation COMMD9 chr11 36297779 36297779 G A g.36297779G>A ENST00000263401.5 c.364C>T p.Arg122Cys missense_variant benign SNU475 Missense Mutation OR52A1 chr11 5173196 5173196 G A g.5173196G>A ENST00000328942.1 c.404C>T p.Ala135Val missense_variant possibly damaging SNU475 Missense Mutation OR51I1 chr11 5462204 5462204 A T g.5462204A>T ENST00000380211.1 c.541T>A p.Cys181Ser missense_variant probably damaging SNU475 Missense Mutation OR52B6 chr11 5602950 5602950 A G g.5602950A>G ENST00000345043.2 c.844A>G p.Arg282Gly missense_variant probably damaging SNU475 Missense Mutation SF1 chr11 64534481 64534481 G A g.64534481G>A ENST00000377394.3 c.1477C>T p.Pro493Ser missense_variant benign SNU475 Missense Mutation CABP2 chr11 67290115 67290115 C G g.67290115C>G ENST00000294288.4 c.115G>C p.Gly39Arg missense_variant benign SNU475 Missense Mutation RBMXL2 chr11 7111222 7111222 G A g.7111222G>A ENST00000306904.5 c.871G>A p.Gly291Ser missense_variant benign SNU475 Missense Mutation NEU3 chr11 74717070 74717070 G A g.74717070G>A ENST00000294064.4 c.919G>A p.Glu307Lys missense_variant probably damaging SNU475 Missense Mutation FAT3 chr11 92088189 92088189 G C g.92088189G>C ENST00000298047.6 c.2911G>C p.Val971Leu missense_variant probably damaging SNU475 Missense Mutation DEPDC4 chr12 100657339 100657339 T C g.100657339T>C ENST00000378244.2 c.490A>G p.Lys164Glu missense_variant,NMD_transcript_variant benign SNU475 Missense Mutation GLT8D2 chr12 104390622 104390622 T A g.104390622T>A ENST00000360814.4 c.491A>T p.Asp164Val missense_variant probably damaging SNU475 Missense Mutation ACACB chr12 109629548 109629548 C G g.109629548C>G ENST00000338432.7 c.2275C>G p.Leu759Val missense_variant probably damaging SNU475 Missense Mutation SBNO1 chr12 123782576 123782576 C T g.123782576C>T ENST00000420886.2 c.3988G>A p.Val1330Met missense_variant probably damaging SNU475 Missense Mutation FZD10 chr12 130648991 130648991 G A g.130648991G>A ENST00000229030.4 c.1504G>A p.Glu502Lys missense_variant probably damaging SNU475 Missense Mutation EP400 chr12 132505729 132505729 T C g.132505729T>C ENST00000389562.2 c.4550T>C p.Leu1554Pro missense_variant benign SNU475 Missense Mutation CACNA1C chr12 2789681 2789681 G A g.2789681G>A NM_001167625.1 c.5564G>A p.Cys1866Tyr missense_variant unknown SNU475 Missense Mutation ZNF641 chr12 48741828 48741828 T A g.48741828T>A ENST00000301042.3 c.88A>T p.Met30Leu missense_variant benign SNU475 Missense Mutation OR10P1 chr12 56030985 56030985 G A g.56030985G>A ENST00000309675.2 c.310G>A p.Val104Ile missense_variant benign SNU475 Missense Mutation PEX5 chr12 7354858 7354858 A G g.7354858A>G ENST00000266564.3 c.664A>G p.Ile222Val missense_variant benign SNU475 Missense Mutation PTPRQ chr12 80943444 80943444 G A g.80943444G>A ENST00000266688.5 c.4204G>A p.V1402I missense_variant benign SNU475 Missense Mutation NTN4 chr12 96131910 96131910 C T g.96131910C>T ENST00000343702.4 c.598G>A p.Ala200Thr missense_variant benign SNU475 Missense Mutation TM9SF2 chr13 100191789 100191789 A G g.100191789A>G ENST00000376387.4 c.806A>G p.Tyr269Cys missense_variant probably damaging SNU475 Missense Mutation LIG4 chr13 108861552 108861552 T C g.108861552T>C ENST00000356922.4 c.2065A>G p.Ile689Val missense_variant benign SNU475 Missense Mutation LAMP1 chr13 113964088 113964088 C T g.113964088C>T ENST00000332556.4 c.314C>T p.Thr105Met missense_variant probably damaging SNU475 Missense Mutation RNF17 chr13 25418803 25418803 A G g.25418803A>G ENST00000255324.5 c.2845A>G p.Met949Val missense_variant possibly damaging SNU475 Missense Mutation FLT3 chr13 28611336 28611336 G A g.28611336G>A ENST00000241453.7 c.1295C>T p.Thr432Met missense_variant probably damaging SNU475 Missense Mutation FRY chr13 32749701 32749701 A G g.32749701A>G ENST00000380250.3 c.2353A>G p.Ile785Val missense_variant benign SNU475 Missense Mutation ATP7B chr13 52548848 52548848 C T g.52548848C>T ENST00000242839.4 c.508G>A p.Gly170Arg missense_variant probably damaging SNU475 Missense Mutation RAP2A chr13 98086864 98086864 A T g.98086864A>T ENST00000245304.4 c.140A>T p.Asp47Val missense_variant probably damaging SNU475 Missense Mutation PARP2 chr14 20825282 20825282 A C g.20825282A>C ENST00000250416.5 c.1441A>C p.Asn481His missense_variant benign SNU475 Missense Mutation GZMH chr14 25077607 25077607 C G g.25077607C>G ENST00000216338.4 c.67G>C p.Gly23Arg missense_variant probably damaging SNU475 Missense Mutation NUBPL chr14 32295849 32295849 T C g.32295849T>C ENST00000281081.7 c.622T>C p.Ser208Pro missense_variant probably damaging SNU475 Missense Mutation DAAM1 chr14 59835510 59835510 G A g.59835510G>A ENST00000351081.1 c.3170G>A p.Arg1057His missense_variant probably damaging SNU475 Missense Mutation ZFYVE26 chr14 68241828 68241828 G C g.68241828G>C ENST00000347230.4 c.5225C>G p.Ser1742Cys missense_variant probably damaging SNU475 Missense Mutation SMOC1 chr14 70461131 70461131 A G g.70461131A>G ENST00000361956.3 c.598A>G p.Thr200Ala missense_variant possibly damaging SNU475 Missense Mutation ZC2HC1C chr14 75537322 75537322 A G g.75537322A>G ENST00000238686.8 c.46A>G p.Met16Val missense_variant benign SNU475 Missense Mutation TDP1 chr14 90499502 90499502 C T g.90499502C>T ENST00000335725.4 c.1697C>T p.Pro566Leu missense_variant benign SNU475 Missense Mutation MKRN3 chr15 23811361 23811361 C A g.23811361C>A ENST00000314520.3 c.432C>A p.Ser144Arg missense_variant possibly damaging SNU475 Missense Mutation HERC2 chr15 28370178 28370178 C A g.28370178C>A ENST00000261609.7 c.12964G>T p.Ala4322Ser missense_variant benign SNU475 Missense Mutation FMN1 chr15 33260987 33260987 C T g.33260987C>T ENST00000334528.9 c.2246G>A p.Arg749Gln missense_variant probably damaging SNU475 Missense Mutation DUOXA1 chr15 45412799 45412799 G A g.45412799G>A ENST00000267803.4 c.545C>T p.Ala182Val missense_variant probably damaging SNU475 Missense Mutation USP8 chr15 50782598 50782598 G A g.50782598G>A ENST00000307179.4 c.2110G>A p.Ala704Thr missense_variant benign SNU475 Missense Mutation USP8 chr15 50791223 50791223 T G g.50791223T>G ENST00000307179.4 c.3295T>G p.Ser1099Ala missense_variant benign SNU475 Missense Mutation DMXL2 chr15 51773593 51773593 C T g.51773593C>T ENST00000251076.5 c.5710G>A p.Val1904Ile missense_variant probably damaging SNU475 Missense Mutation ADAM10 chr15 58957378 58957378 C T g.58957378C>T ENST00000260408.3 c.503G>A p.Gly168Asp missense_variant possibly damaging SNU475 Missense Mutation VPS13C chr15 62305254 62305254 G A g.62305254G>A ENST00000261517.5 c.809C>T p.Ser270Leu missense_variant benign SNU475 Missense Mutation KBTBD13 chr15 65369669 65369669 C G g.65369669C>G ENST00000432196.2 c.516C>G p.Asp172Glu missense_variant probably damaging SNU475 Missense Mutation PSMA4 chr15 78838931 78838931 G C g.78838931G>C ENST00000044462.7 c.522G>C p.Met174Ile missense_variant benign SNU475 Missense Mutation MCTP2 chr15 94928707 94928707 G C g.94928707G>C ENST00000357742.4 c.1741G>C p.Asp581His missense_variant probably damaging SNU475 Missense Mutation IFT140 chr16 1570661 1570661 C T g.1570661C>T ENST00000426508.2 c.3602G>A p.Arg1201His missense_variant benign SNU475 Missense Mutation COQ7 chr16 19078994 19078994 G C g.19078994G>C ENST00000321998.5 c.8G>C p.Cys3Ser missense_variant benign SNU475 Missense Mutation ERI2 chr16 20792031 20792031 T C g.20792031T>C ENST00000300005.3 c.920A>G p.Gln307Arg missense_variant benign SNU475 Missense Mutation EEF2K chr16 22262558 22262558 G A g.22262558G>A ENST00000263026.5 c.533G>A p.Arg178Gln missense_variant probably damaging SNU475 Missense Mutation ABCA3 chr16 2329098 2329098 C T g.2329098C>T ENST00000301732.5 c.4393G>A p.Asp1465Asn missense_variant probably damaging SNU475 Missense Mutation ERN2 chr16 23722263 23722263 G C g.23722263G>C ENST00000256797.4 c.314C>G p.Thr105Arg missense_variant probably damaging SNU475 Missense Mutation ABCA3 chr16 2376053 2376053 C T g.2376053C>T ENST00000301732.5 c.277G>A p.Val93Ile missense_variant benign SNU475 Missense Mutation ABCA3 chr16 2376215 2376215 G C g.2376215G>C ENST00000301732.5 c.115C>G p.Leu39Val missense_variant possibly damaging SNU475 Missense Mutation CCNF chr16 2495560 2495560 G A g.2495560G>A ENST00000397066.4 c.1031G>A p.Arg344Lys missense_variant benign SNU475 Missense Mutation ASPHD1 chr16 29912732 29912732 G A g.29912732G>A ENST00000308748.5 c.440G>A p.Ser147Asn missense_variant possibly damaging SNU475 Missense Mutation ITFG3 chr16 309492 309492 C G g.309492C>G ENST00000301678.3 c.279C>G p.Asp93Glu missense_variant benign SNU475 Missense Mutation ITGAX chr16 31382737 31382737 C A g.31382737C>A ENST00000268296.4 c.1924C>A p.Gln642Lys missense_variant benign SNU475 Missense Mutation ZSCAN10 chr16 3140284 3140284 C T g.3140284C>T ENST00000252463.2 c.986G>A p.Ser329Asn missense_variant benign SNU475 Missense Mutation ABCC12 chr16 48174686 48174686 G A g.48174686G>A ENST00000311303.3 c.569C>T p.Thr190Met missense_variant probably damaging SNU475 Missense Mutation HEATR3 chr16 50109611 50109611 C T g.50109611C>T ENST00000299192.7 c.752C>T p.Thr251Ile missense_variant probably damaging SNU475 Missense Mutation CNOT1 chr16 58619312 58619312 C A g.58619312C>A ENST00000317147.5 c.736G>T p.Val246Leu missense_variant benign SNU475 Missense Mutation LRRC36 chr16 67397513 67397513 A C g.67397513A>C ENST00000329956.6 c.598A>C p.Ile200Leu missense_variant benign SNU475 Missense Mutation SLC12A4 chr16 67980362 67980362 G A g.67980362G>A ENST00000316341.3 c.2416C>T p.Arg806Cys missense_variant possibly damaging SNU475 Missense Mutation STUB1 chr16 731849 731849 G A g.731849G>A ENST00000219548.4 c.581G>A p.Arg194Gln missense_variant benign SNU475 Missense Mutation CHTF18 chr16 847877 847877 A G g.847877A>G ENST00000262315.9 c.2830A>G p.Met944Val missense_variant benign SNU475 Missense Mutation DNAH9 chr17 11502194 11502194 G A g.11502194G>A ENST00000262442.4 c.379G>A p.Ala127Thr missense_variant benign SNU475 Missense Mutation CDRT4 chr17 15341322 15341322 G A g.15341322G>A ENST00000312177.6 c.224C>T p.P75L missense_variant benign SNU475 Missense Mutation KCNJ12 chr17 21319667 21319667 A T g.21319667A>T ENST00000331718.5 c.1013A>T p.Tyr338Phe missense_variant possibly damaging SNU475 Missense Mutation GSG2 chr17 3627764 3627764 T A g.3627764T>A ENST00000325418.4 c.535T>A p.Ser179Thr missense_variant benign SNU475 Missense Mutation GPR179 chr17 36485091 36485091 C T g.36485091C>T ENST00000342292.4 c.4361G>A p.Ser1454Asn missense_variant benign SNU475 Missense Mutation STAC2 chr17 37371220 37371220 C A g.37371220C>A ENST00000333461.5 c.756G>T p.Glu252Asp missense_variant benign SNU475 Missense Mutation GRB7 chr17 37901729 37901729 C T g.37901729C>T ENST00000309156.4 c.1147C>T p.Arg383Cys missense_variant probably damaging SNU475 Missense Mutation ANKFY1 chr17 4098308 4098308 C T g.4098308C>T ENST00000341657.4 c.1337G>A p.Arg446His missense_variant benign SNU475 Missense Mutation SPNS3 chr17 4349349 4349349 T G g.4349349T>G ENST00000355530.2 c.409T>G p.Trp137Gly missense_variant benign SNU475 Missense Mutation PHOSPHO1 chr17 47302278 47302278 G A g.47302278G>A ENST00000310544.4 c.134C>T p.Ser45Leu missense_variant possibly damaging SNU475 Missense Mutation CACNA1G chr17 48695595 48695595 C T g.48695595C>T ENST00000359106.5 c.5318C>T p.Thr1773Ile missense_variant benign SNU475 Missense Mutation STXBP4 chr17 53158505 53158505 G C g.53158505G>C ENST00000376352.2 c.1450G>C p.Glu484Gln missense_variant probably damaging SNU475 Missense Mutation BZRAP1 chr17 56385015 56385015 G A g.56385015G>A ENST00000343736.4 c.4940C>T p.Ala1647Val missense_variant probably damaging SNU475 Missense Mutation ASGR2 chr17 7010380 7010380 G A g.7010380G>A ENST00000355035.5 c.602C>T p.Ala201Val missense_variant probably damaging SNU475 Missense Mutation USH1G chr17 72916669 72916669 C T g.72916669C>T ENST00000319642.1 c.262G>A p.Gly88Arg missense_variant probably damaging SNU475 Missense Mutation LLGL2 chr17 73570320 73570320 C T g.73570320C>T ENST00000167462.5 c.2932C>T p.Arg978Cys missense_variant probably damaging SNU475 Missense Mutation TP53 chr17 7577153 7577153 C T g.7577153C>T ENST00000269305.4 c.785G>A p.Gly262Asp (Splice) missense_variant,splice_region_variant probably damaging SNU475 Missense Mutation TP53 chr17 7577566 7577566 T C g.7577566T>C ENST00000269305.4 c.715A>G p.Asn239Asp missense_variant probably damaging SNU475 Missense Mutation LGALS3BP chr17 76967714 76967714 C T g.76967714C>T ENST00000262776.3 c.1702G>A p.Gly568Ser missense_variant benign SNU475 Missense Mutation C1QTNF1 chr17 77040190 77040190 C T g.77040190C>T ENST00000339142.2 c.140C>T p.Pro47Leu missense_variant benign SNU475 Missense Mutation PIEZO2 chr18 10763080 10763080 T C g.10763080T>C ENST00000302079.6 c.2888A>G p.Tyr963Cys missense_variant damaging SNU475 Missense Mutation ASXL3 chr18 31324527 31324527 C T g.31324527C>T ENST00000269197.5 c.4715C>T p.Pro1572Leu missense_variant benign SNU475 Missense Mutation SLC39A6 chr18 33706840 33706840 A G g.33706840A>G ENST00000269187.5 c.131T>C p.Ile44Thr missense_variant benign SNU475 Missense Mutation SLC14A2 chr18 43204726 43204726 A T g.43204726A>T ENST00000255226.6 c.97A>T p.Thr33Ser missense_variant benign SNU475 Missense Mutation MEX3C chr18 48723215 48723215 C A g.48723215C>A ENST00000406189.3 c.476G>T p.Gly159Val missense_variant benign SNU475 Missense Mutation DOK6 chr18 67425017 67425017 T G g.67425017T>G ENST00000382713.5 c.764T>G p.Met255Arg missense_variant benign SNU475 Missense Mutation LAMA1 chr18 7017330 7017330 C G g.7017330C>G ENST00000389658.3 c.2755G>C p.Gly919Arg missense_variant probably damaging SNU475 Missense Mutation RALBP1 chr18 9517115 9517115 A G g.9517115A>G ENST00000019317.4 c.517A>G p.Ile173Val missense_variant benign SNU475 Missense Mutation CPAMD8 chr19 17086850 17086850 A G g.17086850A>G ENST00000443236.1 c.2011T>C p.Tyr671His missense_variant possibly damaging SNU475 Missense Mutation ZNF77 chr19 2936633 2936633 T C g.2936633T>C ENST00000314531.4 c.200A>G p.Asn67Ser missense_variant benign SNU475 Missense Mutation SBSN chr19 36015811 36015811 C T g.36015811C>T ENST00000452271.2 c.1654G>A p.Gly552Arg missense_variant damaging SNU475 Missense Mutation AXL chr19 41737198 41737198 C G g.41737198C>G ENST00000301178.4 c.778C>G p.Leu260Val missense_variant benign SNU475 Missense Mutation CIC chr19 42794644 42794644 C G g.42794644C>G ENST00000160740.3 c.1724C>G p.Pro575Arg missense_variant benign SNU475 Missense Mutation CIC chr19 42795121 42795121 C T g.42795121C>T ENST00000160740.3 c.2201C>T p.Ser734Leu missense_variant benign SNU475 Missense Mutation TRPM4 chr19 49671925 49671925 T C g.49671925T>C ENST00000252826.5 c.728T>C p.Leu243Pro missense_variant possibly damaging SNU475 Missense Mutation FCGRT chr19 50027778 50027778 C T g.50027778C>T ENST00000221466.5 c.616C>T p.Arg206Cys missense_variant probably damaging SNU475 Missense Mutation SIGLEC10 chr19 51918155 51918155 A T g.51918155A>T ENST00000339313.5 c.1538T>A p.Leu513His missense_variant probably damaging SNU475 Missense Mutation ERVV-2 chr19 53553852 53553852 G A g.53553852G>A ENST00000601417.1 c.1348G>A p.Ala450Thr missense_variant NA SNU475 Missense Mutation ZNF765 chr19 53911941 53911941 C T g.53911941C>T ENST00000396408.3 c.1133C>T p.Thr378Ile missense_variant probably damaging SNU475 Missense Mutation NLRP13 chr19 56443394 56443394 G A g.56443394G>A ENST00000342929.3 c.284C>T p.Thr95Ile missense_variant possibly damaging SNU475 Missense Mutation NLRP8 chr19 56485115 56485115 G A g.56485115G>A ENST00000291971.3 c.2632G>A p.Ala878Thr missense_variant possibly damaging SNU475 Missense Mutation PEG3 chr19 57326247 57326247 T G g.57326247T>G ENST00000326441.9 c.3563A>C p.Asp1188Ala missense_variant probably damaging SNU475 Missense Mutation ZNF497 chr19 58868520 58868520 G A g.58868520G>A ENST00000311044.3 c.482C>T p.Pro161Leu missense_variant probably damaging SNU475 Missense Mutation LOC646862 chr19 58907695 58907695 G C g.58907695G>C NM_001195135.1 c.239G>C p.R80P missense_variant NA SNU475 Missense Mutation TNFSF9 chr19 6534803 6534803 C T g.6534803C>T ENST00000245817.3 c.491C>T p.Ala164Val missense_variant probably damaging SNU475 Missense Mutation PALM chr19 727691 727691 C G g.727691C>G ENST00000264560.7 c.266C>G p.Ser89Cys missense_variant benign SNU475 Missense Mutation FBN3 chr19 8197877 8197877 A C g.8197877A>C ENST00000270509.2 c.1705T>G p.Tyr569Asp missense_variant benign SNU475 Missense Mutation KANK3 chr19 8387736 8387736 G A g.8387736G>A ENST00000330915.3 c.2453C>T p.Pro818Leu missense_variant benign SNU475 Missense Mutation ELANE chr19 853005 853005 T C g.853005T>C ENST00000263621.1 c.197T>C p.Met66Thr missense_variant probably damaging SNU475 Missense Mutation KLF11 chr2 10188404 10188404 G C g.10188404G>C ENST00000305883.1 c.940G>C p.Val314Leu missense_variant benign SNU475 Missense Mutation PSD4 chr2 113951496 113951496 G T g.113951496G>T ENST00000245796.6 c.2152G>T p.Gly718Cys missense_variant probably damaging SNU475 Missense Mutation PSD4 chr2 113955414 113955414 G A g.113955414G>A ENST00000245796.6 c.2548G>A p.Ala850Thr missense_variant probably damaging SNU475 Missense Mutation CCDC93 chr2 118688619 118688619 G C g.118688619G>C ENST00000376300.2 c.1836C>G p.Phe612Leu missense_variant possibly damaging SNU475 Missense Mutation MAP3K19 chr2 135745214 135745214 T C g.135745214T>C ENST00000375845.3 c.1228A>G p.Met410Val missense_variant benign SNU475 Missense Mutation ACVR2A chr2 148657391 148657391 C T g.148657391C>T ENST00000241416.7 c.452C>T p.Ala151Val missense_variant benign SNU475 Missense Mutation IFIH1 chr2 163144699 163144699 T G g.163144699T>G ENST00000263642.2 c.1041A>C p.Leu347Phe missense_variant probably damaging SNU475 Missense Mutation XIRP2 chr2 168100381 168100381 A G g.168100381A>G ENST00000295237.9 c.2479A>G p.Ile827Val missense_variant benign SNU475 Missense Mutation TTN chr2 179434567 179434567 T C g.179434567T>C ENST00000591111.1 c.71369A>G p.Tyr23790Cys missense_variant probably damaging SNU475 Missense Mutation TTN chr2 179510748 179510748 G C g.179510748G>C ENST00000591111.1 c.35384C>G p.Pro11795Arg missense_variant probably damaging SNU475 Missense Mutation FSIP2 chr2 186666931 186666931 C T g.186666931C>T ENST00000343098.5 c.13165C>T p.Pro4389Ser missense_variant unknown SNU475 Missense Mutation C2orf62 chr2 219221890 219221890 T A g.219221890T>A ENST00000289388.3 c.98T>A p.Ile33Asn missense_variant probably damaging SNU475 Missense Mutation PLCD4 chr2 219487575 219487575 T C g.219487575T>C ENST00000417849.1 c.746T>C p.Ile249Thr missense_variant probably damaging SNU475 Missense Mutation MOGAT1 chr2 223559215 223559215 C T g.223559215C>T ENST00000446656.3 c.613C>T p.Arg205Cys missense_variant benign SNU475 Missense Mutation GBX2 chr2 237076211 237076211 C A g.237076211C>A ENST00000306318.4 c.404G>T p.Gly135Val missense_variant benign SNU475 Missense Mutation KLHL30 chr2 239057735 239057735 T C g.239057735T>C ENST00000409223.1 c.1427T>C p.Ile476Thr missense_variant possibly damaging SNU475 Missense Mutation DRC1 chr2 26676222 26676222 C T g.26676222C>T ENST00000288710.2 c.1724C>T p.Ala575Val missense_variant benign SNU475 Missense Mutation PLEKHH2 chr2 43924355 43924355 C T g.43924355C>T ENST00000282406.4 c.548C>T p.Ser183Leu missense_variant benign SNU475 Missense Mutation ABCG8 chr2 44078855 44078855 G A g.44078855G>A ENST00000272286.2 c.455G>A p.Arg152His missense_variant probably damaging SNU475 Missense Mutation ETAA1 chr2 67632104 67632104 A C g.67632104A>C ENST00000272342.5 c.2290A>C p.Asn764His missense_variant probably damaging SNU475 Missense Mutation CTNNA2 chr2 80085156 80085156 G A g.80085156G>A ENST00000402739.4 c.316G>A p.Ala106Thr missense_variant benign SNU475 Missense Mutation KCMF1 chr2 85276680 85276680 A G g.85276680A>G ENST00000409785.4 c.793A>G p.Thr265Ala missense_variant benign SNU475 Missense Mutation RNF103 chr2 86850982 86850982 A C g.86850982A>C NM_001198951.1 c.4T>G p.Ser2Ala missense_variant damaging SNU475 Missense Mutation EIF2AK3 chr2 88926758 88926758 C G g.88926758C>G ENST00000303236.3 c.35G>C p.Arg12Pro missense_variant benign SNU475 Missense Mutation ZNF337 chr20 25656440 25656440 C T g.25656440C>T ENST00000252979.5 c.1484G>A p.Arg495Gln missense_variant benign SNU475 Missense Mutation ASXL1 chr20 30954260 30954260 A G g.30954260A>G ENST00000375687.4 c.131A>G p.Lys44Arg missense_variant probably damaging SNU475 Missense Mutation BPIFB3 chr20 31652302 31652302 C G g.31652302C>G ENST00000375494.3 c.692C>G p.Ser231Cys missense_variant probably damaging SNU475 Missense Mutation PRNP chr20 4680561 4680561 T G g.4680561T>G ENST00000379440.4 c.695T>G p.Met232Arg missense_variant benign SNU475 Missense Mutation ARFGEF2 chr20 47567921 47567921 G A g.47567921G>A ENST00000371917.4 c.338G>A p.Arg113Gln missense_variant probably damaging SNU475 Missense Mutation KRTAP19-7 chr21 31933422 31933422 A G g.31933422A>G ENST00000334849.2 c.187T>C p.Tyr63His missense_variant benign SNU475 Missense Mutation SON chr21 34925036 34925036 A G g.34925036A>G ENST00000290239.6 c.3499A>G p.Met1167Val missense_variant possibly damaging SNU475 Missense Mutation SIK1 chr21 44837511 44837511 C T g.44837511C>T ENST00000270162.6 c.1888G>A p.Ala630Thr missense_variant benign SNU475 Missense Mutation TSPEAR chr21 45919670 45919670 C A g.45919670C>A ENST00000323084.4 c.2006G>T p.Arg669Leu missense_variant benign SNU475 Missense Mutation ZNF280A chr22 22869125 22869125 C T g.22869125C>T ENST00000302097.3 c.830G>A p.Ser277Asn missense_variant benign SNU475 Missense Mutation SSTR3 chr22 37602654 37602654 G T g.37602654G>T ENST00000328544.3 c.1189C>A p.Gln397Lys missense_variant benign SNU475 Missense Mutation TRABD chr22 50636350 50636350 C T g.50636350C>T ENST00000303434.4 c.770C>T p.Ser257Leu missense_variant benign SNU475 Missense Mutation NXPE3 chr3 101535732 101535732 G A g.101535732G>A ENST00000273347.5 c.1016G>A p.Arg339His missense_variant benign SNU475 Missense Mutation KIAA1407 chr3 113737541 113737541 G C g.113737541G>C ENST00000295878.3 c.1147C>G p.Leu383Val missense_variant probably damaging SNU475 Missense Mutation SEMA5B chr3 122631750 122631750 C T g.122631750C>T ENST00000357599.3 c.2665G>A p.Gly889Ser missense_variant probably damaging SNU475 Missense Mutation XRN1 chr3 142030465 142030465 G A g.142030465G>A ENST00000264951.4 c.5009C>T p.Thr1670Ile missense_variant benign SNU475 Missense Mutation FGD5 chr3 14860586 14860586 G C g.14860586G>C ENST00000285046.5 c.8G>C p.Arg3Thr missense_variant probably damaging SNU475 Missense Mutation P2RY1 chr3 152553575 152553575 A G g.152553575A>G ENST00000305097.3 c.4A>G p.Thr2Ala missense_variant benign SNU475 Missense Mutation ARHGEF26 chr3 153970913 153970913 G A g.153970913G>A ENST00000356448.4 c.2309G>A p.Arg770Gln missense_variant probably damaging SNU475 Missense Mutation ANKRD28 chr3 15719047 15719047 A C g.15719047A>C ENST00000399451.2 c.2640T>G p.Ser880Arg missense_variant benign SNU475 Missense Mutation MAP3K13 chr3 185190929 185190929 G A g.185190929G>A ENST00000265026.3 c.1810G>A p.Ala604Thr missense_variant benign SNU475 Missense Mutation PP2D1 chr3 20043579 20043579 C G g.20043579C>G ENST00000333083.7 c.33G>C p.Trp11Cys missense_variant,NMD_transcript_variant damaging SNU475 Missense Mutation SCN10A chr3 38833565 38833565 G A g.38833565G>A ENST00000449082.2 c.365C>T p.Thr122Met missense_variant benign SNU475 Missense Mutation XIRP1 chr3 39227917 39227917 T G g.39227917T>G ENST00000340369.3 c.3020A>C p.Glu1007Ala missense_variant benign SNU475 Missense Mutation MYRIP chr3 40208373 40208373 G A g.40208373G>A ENST00000302541.6 c.587G>A p.Arg196Gln missense_variant possibly damaging SNU475 Missense Mutation SEC22C chr3 42590112 42590112 G A g.42590112G>A ENST00000273156.7 c.749C>T p.Ser250Leu missense_variant damaging SNU475 Missense Mutation ZNF660 chr3 44635903 44635903 C T g.44635903C>T ENST00000322734.2 c.218C>T p.Thr73Met missense_variant probably damaging SNU475 Missense Mutation RBM15B chr3 51430034 51430034 A T g.51430034A>T ENST00000323686.4 c.1204A>T p.Ile402Phe missense_variant benign SNU475 Missense Mutation FRG2C chr3 75714331 75714331 A T g.75714331A>T ENST00000308062.3 c.311A>T p.Lys104Met missense_variant possibly damaging SNU475 Missense Mutation ZNF717 chr3 75786573 75786573 G A g.75786573G>A ENST00000422325.1 c.2201C>T p.Ala734Val missense_variant benign SNU475 Missense Mutation CENPE chr4 104065697 104065697 T C g.104065697T>C ENST00000265148.3 c.4936A>G p.Ile1646Val missense_variant benign SNU475 Missense Mutation NDST3 chr4 118975694 118975694 T A g.118975694T>A ENST00000296499.5 c.629T>A p.Leu210His missense_variant probably damaging SNU475 Missense Mutation LARP1B chr4 129028534 129028534 T C g.129028534T>C ENST00000432347.2 c.1054T>C p.Phe352Leu missense_variant damaging SNU475 Missense Mutation USP38 chr4 144116976 144116976 T G g.144116976T>G ENST00000307017.4 c.926T>G p.Val309Gly missense_variant probably damaging SNU475 Missense Mutation HTT chr4 3230381 3230381 C A g.3230381C>A ENST00000355072.5 c.7888C>A p.P2630T missense_variant probably damaging SNU475 Missense Mutation HTT chr4 3237436 3237436 A G g.3237436A>G ENST00000355072.5 c.8716A>G p.R2906G missense_variant probably damaging SNU475 Missense Mutation ZBTB49 chr4 4303868 4303868 A G g.4303868A>G ENST00000337872.4 c.305A>G p.Gln102Arg missense_variant probably damaging SNU475 Missense Mutation NAA11 chr4 80246346 80246346 G A g.80246346G>A ENST00000286794.4 c.686C>T p.Ser229Phe missense_variant benign SNU475 Missense Mutation BMP3 chr4 81967092 81967092 A G g.81967092A>G ENST00000282701.2 c.517A>G p.Ser173Gly missense_variant benign SNU475 Missense Mutation DMXL1 chr5 118485907 118485907 A G g.118485907A>G ENST00000311085.8 c.4385A>G p.Asp1462Gly missense_variant benign SNU475 Missense Mutation ZNF474 chr5 121488608 121488608 C T g.121488608C>T ENST00000296600.4 c.923C>T p.Thr308Ile missense_variant benign SNU475 Missense Mutation SHROOM1 chr5 132159168 132159168 G T g.132159168G>T ENST00000319854.3 c.2000C>A p.Thr667Lys missense_variant benign SNU475 Missense Mutation RANBP17 chr5 170723003 170723003 T C g.170723003T>C ENST00000523189.1 c.3155T>C p.Val1052Ala missense_variant benign SNU475 Missense Mutation CDHR2 chr5 176013829 176013829 G A g.176013829G>A ENST00000261944.5 c.2842G>A p.Val948Met missense_variant probably damaging SNU475 Missense Mutation MRPS30 chr5 44809333 44809333 A G g.44809333A>G ENST00000507110.1 c.269A>G p.Lys90Arg missense_variant probably damaging SNU475 Missense Mutation AIM1 chr6 106968654 106968654 C T g.106968654C>T ENST00000369066.3 c.2347C>T p.Arg783Cys missense_variant probably damaging SNU475 Missense Mutation SLC22A16 chr6 110778060 110778060 C G g.110778060C>G ENST00000368919.3 c.214G>C p.Glu72Gln missense_variant probably damaging SNU475 Missense Mutation RFX6 chr6 117248283 117248283 C G g.117248283C>G ENST00000332958.2 c.1979C>G p.Pro660Arg missense_variant probably damaging SNU475 Missense Mutation UTRN chr6 144743045 144743045 C G g.144743045C>G ENST00000367545.3 c.173C>G p.Thr58Arg missense_variant probably damaging SNU475 Missense Mutation TIAM2 chr6 155450712 155450712 G C g.155450712G>C ENST00000318981.5 c.355G>C p.Val119Leu missense_variant benign SNU475 Missense Mutation FAM120B chr6 170626491 170626491 G A g.170626491G>A ENST00000476287.1 c.13G>A p.Gly5Ser missense_variant probably damaging SNU475 Missense Mutation ZSCAN31 chr6 28297360 28297360 C G g.28297360C>G ENST00000344279.6 c.101G>C p.Gly34Ala missense_variant possibly damaging SNU475 Missense Mutation ZSCAN12 chr6 28358680 28358680 G A g.28358680G>A ENST00000361028.1 c.1387C>T p.His463Tyr missense_variant probably damaging SNU475 Missense Mutation AGER chr6 32151734 32151734 G A g.32151734G>A ENST00000375055.2 c.83C>T p.Ala28Val missense_variant probably damaging SNU475 Missense Mutation SYNGAP1 chr6 33411475 33411475 C T g.33411475C>T ENST00000293748.5 c.3146C>T p.Pro1049Leu missense_variant benign SNU475 Missense Mutation DNAH8 chr6 38704868 38704868 C A g.38704868C>A ENST00000359357.3 c.137C>A p.A46E missense_variant possibly damaging SNU475 Missense Mutation DNAH8 chr6 38834445 38834445 G A g.38834445G>A ENST00000359357.3 c.5926G>A p.D1976N missense_variant probably damaging SNU475 Missense Mutation USP49 chr6 41773838 41773838 T C g.41773838T>C ENST00000297229.2 c.884A>G p.Lys295Arg missense_variant benign SNU475 Missense Mutation USP49 chr6 41774571 41774571 C T g.41774571C>T ENST00000297229.2 c.151G>A p.Glu51Lys missense_variant possibly damaging SNU475 Missense Mutation ZNF318 chr6 43323294 43323294 T C g.43323294T>C ENST00000318149.3 c.1778A>G p.His593Arg missense_variant probably damaging SNU475 Missense Mutation CAPN11 chr6 44140104 44140104 G A g.44140104G>A ENST00000398776.1 c.475G>A p.Val159Met missense_variant probably damaging SNU475 Missense Mutation GPR115 chr6 47686146 47686146 A T g.47686146A>T ENST00000283303.2 c.2056A>T p.Asn686Tyr missense_variant benign SNU475 Missense Mutation RIOK1 chr6 7404182 7404182 C T g.7404182C>T ENST00000379834.2 c.776C>T p.Thr259Ile missense_variant benign SNU475 Missense Mutation FILIP1 chr6 76124600 76124600 T G g.76124600T>G ENST00000237172.7 c.89A>C p.Lys30Thr missense_variant benign SNU475 Missense Mutation DOCK4 chr7 111381700 111381700 C T g.111381700C>T ENST00000437633.1 c.4788G>A p.Met1596Ile missense_variant benign SNU475 Missense Mutation TAS2R16 chr7 122635371 122635371 C G g.122635371C>G ENST00000249284.2 c.318G>C p.Lys106Asn missense_variant probably damaging SNU475 Missense Mutation KEL chr7 142639534 142639534 C T g.142639534C>T ENST00000355265.2 c.2024G>A p.Arg675Gln missense_variant benign SNU475 Missense Mutation ZNF425 chr7 148800870 148800870 T A g.148800870T>A ENST00000378061.2 c.2093A>T p.Glu698Val missense_variant benign SNU475 Missense Mutation ASIC3 chr7 150748334 150748334 T G g.150748334T>G ENST00000297512.8 c.1142T>G p.Met381Arg missense_variant possibly damaging SNU475 Missense Mutation DNAH11 chr7 21654879 21654879 A G g.21654879A>G ENST00000328843.6 c.4000A>G p.Ile1334Val missense_variant benign SNU475 Missense Mutation TBX20 chr7 35289756 35289756 C T g.35289756C>T ENST00000408931.3 c.187G>A p.Ala63Thr missense_variant benign SNU475 Missense Mutation OGDH chr7 44685020 44685020 C T g.44685020C>T ENST00000222673.5 c.317C>T p.Ala106Val missense_variant benign SNU475 Missense Mutation LANCL2 chr7 55433806 55433806 G C g.55433806G>C ENST00000254770.2 c.88G>C p.Asp30His missense_variant probably damaging SNU475 Missense Mutation POR chr7 75614951 75614951 G A g.75614951G>A ENST00000394893.1 c.1453G>A p.Ala485Thr missense_variant benign SNU475 Missense Mutation AKAP9 chr7 91622302 91622302 A G g.91622302A>G ENST00000358100.2 c.545A>G p.Glu182Gly missense_variant probably damaging SNU475 Missense Mutation AKAP9 chr7 91726036 91726036 A G g.91726036A>G ENST00000359028.2 c.9775A>G p.Arg3259Gly missense_variant possibly damaging SNU475 Missense Mutation KB-1980E6.3 chr8 103541568 103541568 T C g.103541568T>C ENST00000523572.1 c.38T>C p.L13P missense_variant NA SNU475 Missense Mutation PKHD1L1 chr8 110539201 110539201 C G g.110539201C>G ENST00000378402.5 c.12673C>G p.Leu4225Val missense_variant possibly damaging SNU475 Missense Mutation MAPK15 chr8 144802963 144802963 C A g.144802963C>A ENST00000338033.4 c.870C>A p.Asp290Glu missense_variant benign SNU475 Missense Mutation PLEC chr8 144998234 144998234 C T g.144998234C>T ENST00000322810.4 c.6274G>A p.Ala2092Thr missense_variant probably damaging SNU475 Missense Mutation GPAA1 chr8 145139478 145139478 C T g.145139478C>T ENST00000355091.4 c.976C>T p.Arg326Cys missense_variant probably damaging SNU475 Missense Mutation DGAT1 chr8 145541081 145541081 A C g.145541081A>C ENST00000332324.4 c.1009T>G p.Phe337Val missense_variant probably damaging SNU475 Missense Mutation LRRC14 chr8 145745815 145745815 C T g.145745815C>T ENST00000292524.1 c.523C>T p.Arg175Trp missense_variant probably damaging SNU475 Missense Mutation SORBS3 chr8 22423860 22423860 C T g.22423860C>T ENST00000240123.7 c.953C>T p.Pro318Leu (Splice) missense_variant,splice_region_variant benign SNU475 Missense Mutation ANK1 chr8 41553999 41553999 G A g.41553999G>A ENST00000289734.7 c.2842C>T p.Arg948Cys missense_variant probably damaging SNU475 Missense Mutation ASPH chr8 62555476 62555476 T A g.62555476T>A ENST00000356457.5 c.761A>T p.Asp254Val missense_variant possibly damaging SNU475 Missense Mutation NBN chr8 90993039 90993039 G C g.90993039G>C ENST00000265433.3 c.403C>G p.Leu135Val missense_variant probably damaging SNU475 Missense Mutation ACTL7A chr9 111625501 111625501 G A g.111625501G>A ENST00000333999.3 c.899G>A p.Arg300His missense_variant benign SNU475 Missense Mutation CTNNAL1 chr9 111739325 111739325 T C g.111739325T>C ENST00000325551.4 c.1105A>G p.Ser369Gly missense_variant possibly damaging SNU475 Missense Mutation PTPN3 chr9 112182756 112182756 C A g.112182756C>A ENST00000374541.2 c.1261G>T p.Ala421Ser missense_variant benign SNU475 Missense Mutation SPTAN1 chr9 131388815 131388815 G A g.131388815G>A ENST00000372731.4 c.6410G>A p.Arg2137His missense_variant probably damaging SNU475 Missense Mutation KDM4C chr9 6984169 6984169 C G g.6984169C>G ENST00000381306.3 c.1119C>G p.Phe373Leu missense_variant benign SNU475 Missense Mutation PRKACG chr9 71628444 71628444 C T g.71628444C>T ENST00000377276.2 c.565G>A p.Ala189Thr missense_variant probably damaging SNU475 Missense Mutation RNF128 chrX 106016289 106016289 G A g.106016289G>A ENST00000255499.2 c.631G>A p.Val211Ile missense_variant probably damaging SNU475 Missense Mutation CT47B1 chrX 120009169 120009169 C A g.120009169C>A ENST00000371311.3 c.356G>T p.Gly119Val missense_variant probably damaging SNU475 Missense Mutation PLXNA3 chrX 153689037 153689037 G A g.153689037G>A ENST00000369682.3 c.514G>A p.Asp172Asn missense_variant benign SNU475 Missense Mutation FAM104B chrX 55172659 55172659 A G g.55172659A>G ENST00000358460.4 c.206T>C p.Ile69Thr missense_variant benign SNU475 Missense Mutation ZC3H12B chrX 64722725 64722725 G A g.64722725G>A ENST00000338957.4 c.2147G>A p.Arg716Lys missense_variant probably damaging SNU475 Missense Mutation CXorf65 chrX 70325901 70325901 G A g.70325901G>A ENST00000374251.5 c.199C>T p.Leu67Phe missense_variant probably damaging SNU475 Missense Mutation ZCCHC5 chrX 77913223 77913223 T G g.77913223T>G ENST00000321110.1 c.695A>C p.Glu232Ala missense_variant benign Huh7 Missense Mutation PEX14 chr1 10687391 10687391 T G g.10687391T>G ENST00000356607.4 c.648T>G p.Ile216Met missense_variant probably damaging Huh7 Missense Mutation C1orf167 chr1 11844522 11844522 G C g.11844522G>C ENST00000433342.1 c.3369G>C p.Q1123H missense_variant benign Huh7 Missense Mutation VPS13D chr1 12342810 12342810 A T g.12342810A>T ENST00000356315.4 c.4651A>T p.Asn1551Tyr missense_variant possibly damaging Huh7 Missense Mutation TAS1R3 chr1 1267155 1267155 T C g.1267155T>C ENST00000339381.5 c.329T>C p.Met110Thr missense_variant probably damaging Huh7 Missense Mutation GJA8 chr1 147380433 147380433 G C g.147380433G>C ENST00000240986.4 c.351G>C p.Gln117His missense_variant probably damaging Huh7 Missense Mutation RUSC1 chr1 155291839 155291839 A T g.155291839A>T ENST00000368352.5 c.275A>T p.Glu92Val missense_variant probably damaging Huh7 Missense Mutation TOR1AIP2 chr1 179816728 179816728 A C g.179816728A>C ENST00000367612.3 c.597T>G p.Ile199Met missense_variant benign Huh7 Missense Mutation AIM1L chr1 26672776 26672776 G A g.26672776G>A ENST00000475866.2 c.373C>T p.Arg125Cys missense_variant unknown Huh7 Missense Mutation PTPRC chr1 198704298 198704298 C T g.198704298C>T ENST00000367376.2 c.2314C>T p.Arg772Trp missense_variant probably damaging Huh7 Missense Mutation PTPRC chr1 198711052 198711052 C A g.198711052C>A ENST00000367376.2 c.2452C>A p.Pro818Thr missense_variant probably damaging Huh7 Missense Mutation ZNF281 chr1 200377768 200377768 T A g.200377768T>A ENST00000294740.3 c.1066A>T p.Arg356Trp missense_variant probably damaging Huh7 Missense Mutation IPO9 chr1 201816692 201816692 A G g.201816692A>G ENST00000361565.4 c.238A>G p.Ile80Val missense_variant benign Huh7 Missense Mutation ETNK2 chr1 204101331 204101331 G A g.204101331G>A ENST00000367202.4 c.1142C>T p.Ala381Val missense_variant possibly damaging Huh7 Missense Mutation CR2 chr1 207641953 207641953 G T g.207641953G>T ENST00000367057.3 c.527G>T p.Gly176Val missense_variant probably damaging Huh7 Missense Mutation JMJD4 chr1 227923054 227923054 A T g.227923054A>T ENST00000366758.3 c.59T>A p.Leu20His missense_variant benign Huh7 Missense Mutation SNAP47 chr1 227935610 227935610 A G g.227935610A>G ENST00000315781.5 c.308A>G p.Lys103Arg missense_variant probably damaging Huh7 Missense Mutation OBSCN chr1 228494090 228494090 C T g.228494090C>T ENST00000284548.11 c.11677C>T p.Arg3893Trp missense_variant probably damaging Huh7 Missense Mutation KIF26B chr1 245772666 245772666 A C g.245772666A>C ENST00000407071.2 c.1750A>C p.Lys584Gln missense_variant probably damaging Huh7 Missense Mutation OR2T4 chr1 248525381 248525381 C G g.248525381C>G ENST00000366475.1 c.499C>G p.Leu167Val missense_variant probably damaging Huh7 Missense Mutation BAI2 chr1 32205768 32205768 C G g.32205768C>G ENST00000257070.4 c.2001G>C p.Gln667His missense_variant possibly damaging Huh7 Missense Mutation INPP5B chr1 38353103 38353103 A C g.38353103A>C ENST00000373024.3 c.934T>G p.Phe312Val missense_variant possibly damaging Huh7 Missense Mutation MACF1 chr1 39827080 39827080 C T g.39827080C>T ENST00000317713.7 c.6316C>T p.Arg2106Cys missense_variant benign Huh7 Missense Mutation ZSWIM5 chr1 45671518 45671518 C T g.45671518C>T ENST00000359600.5 c.505G>A p.Gly169Ser missense_variant benign Huh7 Missense Mutation CYB5RL chr1 54644920 54644920 C A g.54644920C>A ENST00000419823.2 c.646G>T p.Val216Phe missense_variant probably damaging Huh7 Missense Mutation TAS1R1 chr1 6638781 6638781 C T g.6638781C>T ENST00000333172.6 c.1663C>T p.Arg555Cys missense_variant probably damaging Huh7 Missense Mutation LRRIQ3 chr1 74507482 74507482 A T g.74507482A>T ENST00000354431.4 c.1133T>A p.Phe378Tyr missense_variant benign Huh7 Missense Mutation HPS6 chr10 103826540 103826540 G T g.103826540G>T ENST00000299238.5 c.1309G>T p.Ala437Ser missense_variant benign Huh7 Missense Mutation TACC2 chr10 123845940 123845940 G C g.123845940G>C ENST00000334433.3 c.3925G>C p.Ala1309Pro missense_variant benign Huh7 Missense Mutation KNDC1 chr10 135038303 135038303 A G g.135038303A>G ENST00000304613.3 c.5159A>G p.Asp1720Gly missense_variant probably damaging Huh7 Missense Mutation PTCHD3 chr10 27687650 27687650 C A g.27687650C>A ENST00000438700.3 c.1877G>T p.Gly626Val missense_variant probably damaging Huh7 Missense Mutation ZNF33A chr10 38344307 38344307 G A g.38344307G>A ENST00000307441.9 c.1252G>A p.Gly418Arg missense_variant benign Huh7 Missense Mutation VSTM4 chr10 50285275 50285275 C T g.50285275C>T ENST00000332853.4 c.623G>A p.Arg208Gln missense_variant possibly damaging Huh7 Missense Mutation CTNNA3 chr10 67680177 67680177 T A g.67680177T>A ENST00000373744.4 c.2599A>T p.Thr867Ser missense_variant benign Huh7 Missense Mutation SLC25A16 chr10 70253246 70253246 T C g.70253246T>C ENST00000609923.1 c.503A>G p.Tyr168Cys missense_variant probably damaging Huh7 Missense Mutation DUPD1 chr10 76797628 76797628 T C g.76797628T>C ENST00000338487.5 c.629A>G p.Gln210Arg missense_variant benign Huh7 Missense Mutation PLAC9 chr10 81901901 81901901 T C g.81901901T>C ENST00000372263.3 c.128T>C p.Met43Thr missense_variant benign Huh7 Missense Mutation MMRN2 chr10 88702575 88702575 C T g.88702575C>T ENST00000372027.5 c.1966G>A p.Asp656Asn missense_variant benign Huh7 Missense Mutation HHEX chr10 94450050 94450050 T G g.94450050T>G ENST00000282728.5 c.307T>G p.Phe103Val missense_variant possibly damaging Huh7 Missense Mutation MYOF chr10 95132817 95132817 A T g.95132817A>T ENST00000359263.4 c.2327T>A p.Ile776Asn missense_variant benign Huh7 Missense Mutation PGR chr11 100909879 100909879 T A g.100909879T>A ENST00000325455.5 c.2770A>T p.Met924Leu missense_variant benign Huh7 Missense Mutation DYNC2H1 chr11 103124042 103124042 C A g.103124042C>A ENST00000375735.2 c.10071C>A p.Asp3357Glu missense_variant benign Huh7 Missense Mutation USP47 chr11 11901770 11901770 A G g.11901770A>G ENST00000399455.2 c.146A>G p.D49G missense_variant damaging Huh7 Missense Mutation TECTA chr11 120989029 120989029 C G g.120989029C>G ENST00000264037.2 c.805C>G p.Arg269Gly missense_variant possibly damaging Huh7 Missense Mutation CDON chr11 125891383 125891383 A T g.125891383A>T ENST00000263577.7 c.109T>A p.Ser37Thr missense_variant probably damaging Huh7 Missense Mutation FER1L5 chr2 97327959 97327959 C A g.97327959C>A NM_001113382.1 c.975C>A p.His325Gln missense_variant benign Huh7 Missense Mutation LIN7C chr11 27520303 27520303 C T g.27520303C>T ENST00000278193.2 c.487G>A p.Ala163Thr missense_variant probably damaging Huh7 Missense Mutation MTCH2 chr11 47660351 47660351 T C g.47660351T>C ENST00000302503.3 c.179A>G p.His60Arg missense_variant probably damaging Huh7 Missense Mutation OR51F2 chr11 4842808 4842808 T C g.4842808T>C ENST00000322110.5 c.193T>C p.Cys65Arg missense_variant benign Huh7 Missense Mutation OR4C6 chr11 55432843 55432843 G T g.55432843G>T ENST00000314259.3 c.201G>T p.Leu67Phe missense_variant benign Huh7 Missense Mutation OR8I2 chr11 55861122 55861122 C A g.55861122C>A ENST00000302124.2 c.339C>A p.Phe113Leu missense_variant benign Huh7 Missense Mutation MS4A14 chr11 60183793 60183793 A G g.60183793A>G ENST00000300187.6 c.1352A>G p.Gln451Arg missense_variant benign Huh7 Missense Mutation CDHR5 chr11 621896 621896 C A g.621896C>A ENST00000349570.7 c.321G>T p.Gln107His missense_variant probably damaging Huh7 Missense Mutation INTS5 chr11 62417080 62417080 T C g.62417080T>C ENST00000330574.2 c.472A>G p.Thr158Ala missense_variant benign Huh7 Missense Mutation ANO1 chr11 70033905 70033905 T C g.70033905T>C ENST00000355303.5 c.2756T>C p.Ile919Thr missense_variant probably damaging Huh7 Missense Mutation PPFIA1 chr11 70172824 70172824 C A g.70172824C>A ENST00000253925.7 c.830C>A p.Ser277Tyr missense_variant benign Huh7 Missense Mutation LAMTOR1 chr11 71809354 71809354 G A g.71809354G>A ENST00000278671.5 c.374C>T p.Pro125Leu missense_variant possibly damaging Huh7 Missense Mutation POLD3 chr11 74323989 74323989 A G g.74323989A>G ENST00000263681.2 c.326A>G p.Lys109Arg missense_variant probably damaging Huh7 Missense Mutation GIT2 chr12 110376978 110376978 A T g.110376978A>T ENST00000355312.3 c.1806T>A p.Asp602Glu missense_variant benign Huh7 Missense Mutation RPL6 chr12 112843062 112843062 G A g.112843062G>A ENST00000202773.9 c.833C>T p.Thr278Met missense_variant possibly damaging Huh7 Missense Mutation RPH3A chr12 113325673 113325673 A G g.113325673A>G ENST00000389385.4 c.1508A>G p.Lys503Arg missense_variant benign Huh7 Missense Mutation GCN1L1 chr12 120576138 120576138 G A g.120576138G>A ENST00000300648.6 c.6238C>T p.Leu2080Phe missense_variant possibly damaging Huh7 Missense Mutation CLIP1 chr12 122825413 122825413 G A g.122825413G>A ENST00000540338.1 c.2338C>T p.Arg780Trp missense_variant benign Huh7 Missense Mutation ATP6V0A2 chr12 124206946 124206946 G A g.124206946G>A ENST00000330342.3 c.245G>A p.Gly82Glu missense_variant benign Huh7 Missense Mutation PIWIL1 chr12 130827188 130827188 A T g.130827188A>T ENST00000245255.3 c.52A>T p.Thr18Ser missense_variant benign Huh7 Missense Mutation PIK3C2G chr12 18762561 18762561 A C g.18762561A>C ENST00000266497.5 c.4057A>C p.Ile1353Leu (Splice) missense_variant,splice_region_variant possibly damaging Huh7 Missense Mutation FOXM1 chr12 2967949 2967949 C T g.2967949C>T ENST00000359843.3 c.2147G>A p.Arg716His missense_variant benign Huh7 Missense Mutation PDZRN4 chr12 41966337 41966337 A G g.41966337A>G ENST00000402685.2 c.1756A>G p.Arg586Gly missense_variant possibly damaging Huh7 Missense Mutation PPHLN1 chr12 42835237 42835237 C T g.42835237C>T ENST00000449194.2 c.973C>T p.Arg325Trp missense_variant damaging Huh7 Missense Mutation RAPGEF3 chr12 48151654 48151654 G A g.48151654G>A ENST00000389212.3 c.214C>T p.Arg72Cys missense_variant probably damaging Huh7 Missense Mutation HDAC7 chr12 48190821 48190821 G A g.48190821G>A ENST00000427332.2 c.565C>T p.Arg189Trp missense_variant probably damaging Huh7 Missense Mutation KMT2D chr12 49432326 49432326 G A g.49432326G>A ENST00000301067.7 c.8813C>T p.Pro2938Leu missense_variant benign Huh7 Missense Mutation DIP2B chr12 51122442 51122442 G A g.51122442G>A ENST00000301180.5 c.3622G>A p.Ala1208Thr missense_variant possibly damaging Huh7 Missense Mutation KRT75 chr12 52825804 52825804 C A g.52825804C>A ENST00000252245.5 c.760G>T p.Val254Leu missense_variant probably damaging Huh7 Missense Mutation NCKAP1L chr12 54891637 54891637 G A g.54891637G>A ENST00000293373.6 c.64G>A p.Gly22Ser missense_variant probably damaging Huh7 Missense Mutation OTOGL chr12 80633176 80633176 G A g.80633176G>A ENST00000458043.2 c.982G>A p.Asp328Asn missense_variant damaging Huh7 Missense Mutation SOCS2 chr12 93968632 93968632 C A g.93968632C>A ENST00000340600.2 c.274C>A p.Pro92Thr missense_variant probably damaging Huh7 Missense Mutation IRS2 chr13 110436909 110436909 T A g.110436909T>A ENST00000375856.3 c.1492A>T p.Met498Leu missense_variant benign Huh7 Missense Mutation ZMYM5 chr13 20412879 20412879 T C g.20412879T>C ENST00000337963.4 c.833A>G p.His278Arg missense_variant possibly damaging Huh7 Missense Mutation PARP4 chr13 25009137 25009137 G A g.25009137G>A ENST00000381989.3 c.4142C>T p.Ala1381Val missense_variant benign Huh7 Missense Mutation FRY chr13 32811541 32811541 A C g.32811541A>C ENST00000380250.3 c.5836A>C p.Ser1946Arg missense_variant benign Huh7 Missense Mutation MAB21L1 chr13 36049906 36049906 A C g.36049906A>C ENST00000379919.4 c.370T>G p.Ser124Ala missense_variant probably damaging Huh7 Missense Mutation KCNRG chr13 50594534 50594534 G A g.50594534G>A ENST00000312942.1 c.763G>A p.Glu255Lys missense_variant benign Huh7 Missense Mutation SLITRK1 chr13 84455292 84455292 C G g.84455292C>G ENST00000377084.2 c.351G>C p.Lys117Asn missense_variant possibly damaging Huh7 Missense Mutation AHNAK2 chr14 105415256 105415256 C A g.105415256C>A ENST00000333244.5 c.6532G>T p.Val2178Leu missense_variant possibly damaging Huh7 Missense Mutation AHNAK2 chr14 105419995 105419995 G A g.105419995G>A ENST00000333244.5 c.1793C>T p.Thr598Ile missense_variant benign Huh7 Missense Mutation SUPT16H chr14 21822617 21822617 C A g.21822617C>A ENST00000216297.2 c.2743G>T p.Gly915Cys missense_variant probably damaging Huh7 Missense Mutation RALGAPA1 chr14 36226094 36226094 T C g.36226094T>C ENST00000258840.6 c.568A>G p.Ile190Val missense_variant benign Huh7 Missense Mutation LRFN5 chr14 42356090 42356090 A C g.42356090A>C ENST00000298119.4 c.262A>C p.Ser88Arg missense_variant benign Huh7 Missense Mutation MAP4K5 chr14 50895389 50895389 C G g.50895389C>G ENST00000013125.4 c.2317G>C p.Glu773Gln missense_variant possibly damaging Huh7 Missense Mutation WDHD1 chr14 55422333 55422333 T C g.55422333T>C ENST00000360586.3 c.2996A>G p.Asn999Ser missense_variant benign Huh7 Missense Mutation PELI2 chr14 56763556 56763556 G C g.56763556G>C ENST00000267460.4 c.935G>C p.Ser312Thr missense_variant benign Huh7 Missense Mutation SYNE2 chr14 64630194 64630194 A T g.64630194A>T ENST00000344113.4 c.16374A>T p.Gln5458His missense_variant probably damaging Huh7 Missense Mutation TTC9 chr14 71134422 71134422 C A g.71134422C>A ENST00000256367.2 c.548C>A p.Ala183Glu missense_variant probably damaging Huh7 Missense Mutation SIPA1L1 chr14 72169175 72169175 C T g.72169175C>T ENST00000358550.2 c.3599C>T p.Ser1200Phe missense_variant probably damaging Huh7 Missense Mutation FAM181A chr14 94394902 94394902 G A g.94394902G>A ENST00000267594.5 c.457G>A p.Gly153Arg missense_variant benign Huh7 Missense Mutation LRRK1 chr15 101566288 101566288 C A g.101566288C>A ENST00000388948.3 c.2351C>A p.Ser784Tyr missense_variant probably damaging Huh7 Missense Mutation TARSL2 chr15 102264530 102264530 C T g.102264530C>T ENST00000335968.3 c.61G>A p.Asp21Asn missense_variant possibly damaging Huh7 Missense Mutation OCA2 chr15 28228594 28228594 A G g.28228594A>G ENST00000354638.3 c.1400T>C p.Val467Ala missense_variant probably damaging Huh7 Missense Mutation RPAP1 chr15 41817267 41817267 T A g.41817267T>A ENST00000304330.4 c.1997A>T p.Glu666Val missense_variant probably damaging Huh7 Missense Mutation RPAP1 chr15 41817268 41817268 C T g.41817268C>T ENST00000304330.4 c.1996G>A p.Glu666Lys missense_variant probably damaging Huh7 Missense Mutation SPTBN5 chr15 42168428 42168428 T A g.42168428T>A ENST00000320955.6 c.4006A>T p.Met1336Leu missense_variant benign Huh7 Missense Mutation STARD9 chr15 42982077 42982077 G T g.42982077G>T ENST00000290607.7 c.8301G>T p.Glu2767Asp missense_variant damaging Huh7 Missense Mutation FAM214A chr15 52874488 52874488 A T g.52874488A>T ENST00000261844.7 c.3094T>A p.Ser1032Thr missense_variant possibly damaging Huh7 Missense Mutation THSD4 chr15 71507696 71507696 G A g.71507696G>A ENST00000261862.6 c.422G>A p.Arg141Gln missense_variant probably damaging Huh7 Missense Mutation THSD4 chr15 71549008 71549008 C G g.71549008C>G ENST00000261862.6 c.969C>G p.Asn323Lys missense_variant probably damaging Huh7 Missense Mutation MTHFS chr15 80181513 80181513 T C g.80181513T>C ENST00000258874.3 c.301A>G p.Ile101Val missense_variant benign Huh7 Missense Mutation ADAMTSL3 chr15 84651393 84651393 C T g.84651393C>T ENST00000286744.5 c.3013C>T p.Arg1005Cys missense_variant possibly damaging Huh7 Missense Mutation ACAN chr15 89401247 89401247 G A g.89401247G>A ENST00000352105.7 c.5431G>A p.Gly1811Arg missense_variant possibly damaging Huh7 Missense Mutation MCTP2 chr15 94841730 94841730 C A g.94841730C>A ENST00000357742.4 c.236C>A p.Pro79His missense_variant probably damaging Huh7 Missense Mutation CPPED1 chr16 12875075 12875075 C T g.12875075C>T ENST00000261660.4 c.256G>A p.Val86Ile missense_variant possibly damaging Huh7 Missense Mutation XYLT1 chr16 17202639 17202639 C G g.17202639C>G ENST00000261381.6 c.2793G>C p.Gln931His missense_variant probably damaging Huh7 Missense Mutation MRPS34 chr16 1823081 1823081 G C g.1823081G>C ENST00000177742.3 c.40C>G p.Leu14Val missense_variant possibly damaging Huh7 Missense Mutation TMC5 chr16 19451717 19451717 C G g.19451717C>G ENST00000381414.4 c.357C>G p.His119Gln missense_variant benign Huh7 Missense Mutation RPL3L chr16 2003988 2003988 G C g.2003988G>C ENST00000268661.7 c.165C>G p.His55Gln missense_variant probably damaging Huh7 Missense Mutation LOC81691 chr16 20824606 20824606 C G g.20824606C>G NM_001144924.1 c.233C>G p.S78C missense_variant benign Huh7 Missense Mutation AQP8 chr16 25239773 25239773 T C g.25239773T>C ENST00000219660.5 c.746T>C p.Ile249Thr missense_variant possibly damaging Huh7 Missense Mutation ZKSCAN2 chr16 25258157 25258157 C A g.25258157C>A ENST00000328086.7 c.1360G>T p.Ala454Ser missense_variant benign Huh7 Missense Mutation SRRM2 chr16 2814074 2814074 G T g.2814074G>T ENST00000301740.8 c.3545G>T p.Arg1182Ile missense_variant benign Huh7 Missense Mutation RABEP2 chr16 28925793 28925793 C A g.28925793C>A ENST00000357573.6 c.658G>T p.Ala220Ser missense_variant probably damaging Huh7 Missense Mutation TMEM8A chr16 426427 426427 C A g.426427C>A ENST00000431232.2 c.933G>T p.Gln311His missense_variant benign Huh7 Missense Mutation VASN chr16 4431138 4431138 A G g.4431138A>G ENST00000304735.3 c.260A>G p.Gln87Arg missense_variant benign Huh7 Missense Mutation ZNF423 chr16 49671640 49671640 C G g.49671640C>G ENST00000262383.2 c.1423G>C p.Gly475Arg missense_variant benign Huh7 Missense Mutation CYLD chr16 50827571 50827571 C A g.50827571C>A ENST00000311559.9 c.2465C>A p.Thr822Asn missense_variant probably damaging Huh7 Missense Mutation MMP2 chr16 55513480 55513480 C T g.55513480C>T ENST00000219070.4 c.89C>T p.Ala30Val missense_variant possibly damaging Huh7 Missense Mutation CPNE2 chr16 57153183 57153183 G C g.57153183G>C ENST00000290776.8 c.584G>C p.Arg195Thr missense_variant benign Huh7 Missense Mutation CPNE2 chr16 57153184 57153184 G T g.57153184G>T ENST00000290776.8 c.585G>T p.Arg195Ser missense_variant benign Huh7 Missense Mutation CAPN15 chr16 598105 598105 C G g.598105C>G ENST00000219611.2 c.1267C>G p.Leu423Val missense_variant probably damaging Huh7 Missense Mutation WDR90 chr16 703799 703799 G A g.703799G>A ENST00000293879.4 c.1433G>A p.Arg478Lys missense_variant benign Huh7 Missense Mutation SF3B3 chr16 70601320 70601320 G T g.70601320G>T ENST00000302516.5 c.2833G>T p.Val945Leu missense_variant benign Huh7 Missense Mutation GLG1 chr16 74640960 74640960 G T g.74640960G>T ENST00000205061.5 c.33C>A p.Phe11Leu missense_variant benign Huh7 Missense Mutation RBFOX1 chr16 7629915 7629915 T A g.7629915T>A ENST00000547338.1 c.407T>A p.Met136Lys missense_variant probably damaging Huh7 Missense Mutation PIEZO1 chr16 88801626 88801626 A T g.88801626A>T ENST00000301015.9 c.1586T>A p.Leu529Gln missense_variant probably damaging Huh7 Missense Mutation PIEZO1 chr16 88802585 88802585 G A g.88802585G>A ENST00000301015.9 c.1528C>T p.Arg510Cys missense_variant probably damaging Huh7 Missense Mutation CDH15 chr16 89256840 89256840 C T g.89256840C>T ENST00000289746.2 c.1168C>T p.Pro390Ser missense_variant benign Huh7 Missense Mutation MYH1 chr17 10411801 10411801 G C g.10411801G>C ENST00000226207.5 c.1776C>G p.Asn592Lys missense_variant possibly damaging Huh7 Missense Mutation MYH3 chr17 10558363 10558363 T C g.10558363T>C ENST00000226209.7 c.19A>G p.Met7Val missense_variant benign Huh7 Missense Mutation DNAH9 chr17 11648150 11648150 G A g.11648150G>A ENST00000262442.4 c.6148G>A p.Val2050Met missense_variant probably damaging Huh7 Missense Mutation SCARF1 chr17 1542191 1542191 C T g.1542191C>T ENST00000263071.4 c.1273G>A p.Ala425Thr missense_variant possibly damaging Huh7 Missense Mutation SYNRG chr17 35913667 35913667 T A g.35913667T>A ENST00000339208.6 c.2158A>T p.Ser559Cys missense_variant probably damaging Huh7 Missense Mutation STARD3 chr17 37817094 37817094 T A g.37817094T>A ENST00000336308.5 c.986T>A p.Ile329Asn missense_variant possibly damaging Huh7 Missense Mutation KRT33A chr17 39504772 39504772 T A g.39504772T>A ENST00000007735.3 c.551A>T p.Lys184Met missense_variant probably damaging Huh7 Missense Mutation PLEKHH3 chr17 40828479 40828479 C T g.40828479C>T ENST00000293349.6 c.103G>A p.Glu35Lys missense_variant possibly damaging Huh7 Missense Mutation VPS53 chr17 424918 424918 G T g.424918G>T ENST00000437048.2 c.2146C>A p.Gln716Lys missense_variant benign Huh7 Missense Mutation ITGA3 chr17 48152873 48152873 A C g.48152873A>C ENST00000007722.7 c.1520A>C p.Asn507Thr missense_variant benign Huh7 Missense Mutation LPO chr17 56345221 56345221 C G g.56345221C>G ENST00000262290.4 c.2005C>G p.Leu669Val missense_variant benign Huh7 Missense Mutation TANC2 chr17 61278243 61278243 A G g.61278243A>G ENST00000389520.4 c.472A>G p.Thr158Ala missense_variant benign Huh7 Missense Mutation GEMIN4 chr17 650276 650276 C T g.650276C>T ENST00000319004.5 c.1007G>A p.Arg336His missense_variant possibly damaging Huh7 Missense Mutation HELZ chr17 65163850 65163850 C T g.65163850C>T ENST00000358691.5 c.1493G>A p.Gly498Asp missense_variant probably damaging Huh7 Missense Mutation TSEN54 chr17 73520464 73520464 T C g.73520464T>C ENST00000333213.6 c.1552T>C p.Phe518Leu missense_variant probably damaging Huh7 Missense Mutation LLGL2 chr17 73566101 73566101 G A g.73566101G>A ENST00000167462.5 c.1639G>A p.Ala547Thr missense_variant possibly damaging Huh7 Missense Mutation TP53BP2 chr1 223987705 223987705 G A g.223987705G>A ENST00000343537.7 c.1381C>T p.Arg461Cys missense_variant probably damaging Huh7 Missense Mutation TP53BP1 chr15 43766918 43766918 G A g.43766918G>A ENST00000263801.3 c.1118C>T p.Thr373Ile missense_variant probably damaging Huh7 Missense Mutation TP53 chr17 7578190 7578190 T C g.7578190T>C ENST00000269305.4 c.659A>G p.Tyr220Cys missense_variant probably damaging Huh7 Missense Mutation DNAH17 chr17 76506520 76506520 C G g.76506520C>G NM_173628.3 c.4182G>C p.Glu1391Asp missense_variant damaging Huh7 Missense Mutation MYH10 chr17 8396332 8396332 G A g.8396332G>A ENST00000269243.4 c.4127C>T p.Thr1376Ile missense_variant benign Huh7 Missense Mutation MFSD6L chr17 8700980 8700980 T C g.8700980T>C ENST00000329805.4 c.1459A>G p.Met487Val missense_variant benign Huh7 Missense Mutation STX8 chr17 9448595 9448595 G C g.9448595G>C ENST00000306357.4 c.217C>G p.Gln73Glu missense_variant benign Huh7 Missense Mutation PIEZO2 chr18 10797506 10797506 C T g.10797506C>T ENST00000302079.6 c.1393G>A p.Glu465Lys missense_variant benign Huh7 Missense Mutation CCDC178 chr18 30672822 30672822 T C g.30672822T>C ENST00000383096.3 c.2291A>G p.Gln764Arg missense_variant probably damaging Huh7 Missense Mutation CCDC68 chr18 52609976 52609976 A G g.52609976A>G ENST00000337363.4 c.47T>C p.Met16Thr missense_variant benign Huh7 Missense Mutation CDH19 chr18 64235680 64235680 C A g.64235680C>A ENST00000262150.2 c.463G>T p.Ala155Ser missense_variant possibly damaging Huh7 Missense Mutation SOGA2 chr18 8784282 8784282 C T g.8784282C>T ENST00000359865.3 c.1172C>T p.Ala391Val missense_variant possibly damaging Huh7 Missense Mutation ZNF440 chr19 11942907 11942907 C A g.11942907C>A ENST00000304060.5 c.916C>A p.His306Asn missense_variant probably damaging Huh7 Missense Mutation RAD23A chr19 13059054 13059054 T G g.13059054T>G ENST00000316856.3 c.298T>G p.Ser100Ala missense_variant benign Huh7 Missense Mutation FAM129C chr19 17650199 17650199 G A g.17650199G>A ENST00000300971.2 c.848G>A p.Arg283Gln missense_variant probably damaging Huh7 Missense Mutation FCHO1 chr19 17885224 17885224 C T g.17885224C>T ENST00000252771.7 c.857C>T p.Ala286Val missense_variant possibly damaging Huh7 Missense Mutation PIK3R2 chr19 18273023 18273023 A C g.18273023A>C ENST00000222254.8 c.913A>C p.Lys305Gln missense_variant probably damaging Huh7 Missense Mutation YJEFN3 chr19 19646413 19646413 G T g.19646413G>T ENST00000514277.4 c.619G>T p.Gly207Trp missense_variant probably damaging Huh7 Missense Mutation ZNF43 chr19 21990420 21990420 T C g.21990420T>C ENST00000354959.4 c.2419A>G p.Asn807Asp missense_variant benign Huh7 Missense Mutation DOT1L chr19 2210433 2210433 G A g.2210433G>A ENST00000398665.3 c.1040G>A p.Arg347His missense_variant probably damaging Huh7 Missense Mutation ZNF729 chr19 22496713 22496713 A C g.22496713A>C ENST00000357491.6 c.494A>C p.K165T missense_variant NA Huh7 Missense Mutation TSHZ3 chr19 31770455 31770455 T C g.31770455T>C ENST00000240587.4 c.244A>G p.Ser82Gly missense_variant possibly damaging Huh7 Missense Mutation MFSD12 chr19 3547859 3547859 G A g.3547859G>A ENST00000355415.2 c.824C>T p.Pro275Leu missense_variant probably damaging Huh7 Missense Mutation PAK4 chr19 39663876 39663876 C T g.39663876C>T ENST00000358301.3 c.523C>T p.Arg175Trp missense_variant benign Huh7 Missense Mutation GRIK5 chr19 42525576 42525576 G A g.42525576G>A ENST00000262895.3 c.1748C>T p.Pro583Leu missense_variant benign Huh7 Missense Mutation TMEM143 chr19 48846608 48846608 C A g.48846608C>A ENST00000293261.3 c.665G>T p.Gly222Val missense_variant possibly damaging Huh7 Missense Mutation LILRA1 chr19 55107805 55107805 A T g.55107805A>T ENST00000251372.3 c.1110A>T p.Arg370Ser missense_variant benign Huh7 Missense Mutation KIR2DL4 chr19 55324670 55324670 G A g.55324670G>A ENST00000359085.4 c.797G>A p.Cys266Tyr missense_variant damaging Huh7 Missense Mutation ZNF579 chr19 56090690 56090690 G A g.56090690G>A ENST00000325421.4 c.316C>T p.Pro106Ser missense_variant probably damaging Huh7 Missense Mutation ZNF772 chr19 57985082 57985082 G A g.57985082G>A ENST00000343280.4 c.1030C>T p.His344Tyr missense_variant probably damaging Huh7 Missense Mutation ZNF211 chr19 58144755 58144755 A G g.58144755A>G ENST00000240731.4 c.41A>G p.Gln14Arg missense_variant benign Huh7 Missense Mutation VMAC chr19 5904905 5904905 T G g.5904905T>G ENST00000339485.3 c.4T>G p.Ser2Ala missense_variant possibly damaging Huh7 Missense Mutation DENND1C chr19 6479688 6479688 A C g.6479688A>C ENST00000381480.2 c.168T>G p.Asp56Glu missense_variant benign Huh7 Missense Mutation INSR chr19 7141798 7141798 T C g.7141798T>C ENST00000302850.5 c.2572A>G p.Thr858Ala missense_variant benign Huh7 Missense Mutation XAB2 chr19 7684528 7684528 G A g.7684528G>A ENST00000358368.4 c.2512C>T p.Arg838Trp missense_variant probably damaging Huh7 Missense Mutation ADAMTS10 chr19 8650470 8650470 T C g.8650470T>C ENST00000270328.4 c.2735A>G p.Gln912Arg missense_variant benign Huh7 Missense Mutation REV1 chr2 100052398 100052398 T G g.100052398T>G ENST00000258428.3 c.1219A>C p.Met407Leu missense_variant benign Huh7 Missense Mutation ST6GAL2 chr2 107459701 107459701 C G g.107459701C>G ENST00000361686.4 c.733G>C p.Gly245Arg missense_variant benign Huh7 Missense Mutation NPHP1 chr2 110926105 110926105 T C g.110926105T>C ENST00000316534.4 c.548A>G p.Glu183Gly missense_variant possibly damaging Huh7 Missense Mutation NEB chr2 152347020 152347020 C T g.152347020C>T ENST00000172853.10 c.19595G>A p.Arg6532His missense_variant probably damaging Huh7 Missense Mutation BAZ2B chr2 160289616 160289616 T G g.160289616T>G ENST00000355831.2 c.1552A>C p.Lys518Gln missense_variant benign Huh7 Missense Mutation FIGN chr2 164468148 164468148 G T g.164468148G>T ENST00000333129.3 c.194C>A p.Ser65Tyr missense_variant probably damaging Huh7 Missense Mutation NT5C1B chr2 18745318 18745318 C T g.18745318C>T ENST00000359846.2 c.1577G>A p.Arg526Gln missense_variant possibly damaging Huh7 Missense Mutation MAP2 chr2 210559586 210559586 G A g.210559586G>A ENST00000360351.4 c.2692G>A p.Glu898Lys missense_variant probably damaging Huh7 Missense Mutation ABCA12 chr2 215843532 215843532 T A g.215843532T>A ENST00000272895.7 c.4973A>T p.Glu1658Val missense_variant probably damaging Huh7 Missense Mutation ABCA12 chr2 215884355 215884355 C A g.215884355C>A ENST00000272895.7 c.1453G>T p.Ala485Ser missense_variant benign Huh7 Missense Mutation ZNF142 chr2 219507865 219507865 C T g.219507865C>T ENST00000411696.2 c.3374G>A p.Arg1125Gln missense_variant benign Huh7 Missense Mutation ANO7 chr2 242142824 242142824 C T g.242142824C>T ENST00000274979.8 c.962C>T p.Ala321Val missense_variant probably damaging Huh7 Missense Mutation DTNB chr2 25754462 25754462 G C g.25754462G>C ENST00000288642.8 c.881C>G p.Ser294Cys missense_variant probably damaging Huh7 Missense Mutation OTOF chr2 26696074 26696074 G A g.26696074G>A ENST00000272371.2 c.3659C>T p.Ser1220Phe missense_variant probably damaging Huh7 Missense Mutation GCKR chr2 27721631 27721631 C T g.27721631C>T ENST00000264717.2 c.395C>T p.Pro132Leu missense_variant benign Huh7 Missense Mutation CDKL4 chr2 39417562 39417562 C A g.39417562C>A ENST00000378803.1 c.536G>T p.Gly179Val missense_variant probably damaging Huh7 Missense Mutation KCNG3 chr2 42720425 42720425 T A g.42720425T>A ENST00000306078.1 c.217A>T p.Ile73Phe missense_variant probably damaging Huh7 Missense Mutation EHBP1 chr2 63053354 63053354 G A g.63053354G>A ENST00000263991.5 c.445G>A p.Ala149Thr missense_variant benign Huh7 Missense Mutation MPHOSPH10 chr2 71377072 71377072 T C g.71377072T>C ENST00000244230.2 c.1973T>C p.Ile658Thr missense_variant probably damaging Huh7 Missense Mutation WDR54 chr2 74652207 74652207 C T g.74652207C>T ENST00000348227.4 c.641C>T p.Pro214Leu missense_variant probably damaging Huh7 Missense Mutation FAM178B chr2 97637936 97637936 G T g.97637936G>T ENST00000490605.2 c.266C>A p.Pro89Gln missense_variant probably damaging Huh7 Missense Mutation NINL chr20 25484716 25484716 G C g.25484716G>C ENST00000278886.6 c.733C>G p.Leu245Val missense_variant probably damaging Huh7 Missense Mutation LZTS3 chr20 3145192 3145192 C T g.3145192C>T ENST00000329152.3 c.1930G>A p.G644R missense_variant benign Huh7 Missense Mutation KIAA1755 chr20 36846717 36846717 G T g.36846717G>T ENST00000279024.4 c.2608C>A p.Pro870Thr missense_variant probably damaging Huh7 Missense Mutation SEMG1 chr20 43836999 43836999 A T g.43836999A>T ENST00000372781.3 c.1061A>T p.Glu354Val missense_variant damaging Huh7 Missense Mutation ZNFX1 chr20 47866026 47866026 C T g.47866026C>T ENST00000371752.1 c.3535G>A p.Val1179Ile missense_variant possibly damaging Huh7 Missense Mutation PTGIS chr20 48166713 48166713 G A g.48166713G>A ENST00000244043.4 c.88C>T p.Pro30Ser missense_variant probably damaging Huh7 Missense Mutation CASS4 chr20 55021022 55021022 G A g.55021022G>A ENST00000360314.3 c.526G>A p.Val176Met missense_variant probably damaging Huh7 Missense Mutation CHGB chr20 5903724 5903724 G A g.5903724G>A ENST00000378961.4 c.934G>A p.Glu312Lys missense_variant possibly damaging Huh7 Missense Mutation DIDO1 chr20 61525063 61525063 G C g.61525063G>C ENST00000266070.4 c.3056C>G p.Ser1019Cys missense_variant probably damaging Huh7 Missense Mutation GMEB2 chr20 62221689 62221689 G A g.62221689G>A ENST00000266068.1 c.1346C>T p.Pro449Leu missense_variant probably damaging Huh7 Missense Mutation C2CD2 chr21 43309336 43309336 C G g.43309336C>G ENST00000380486.3 c.1988G>C p.Arg663Pro missense_variant benign Huh7 Missense Mutation C2CD2 chr21 43319236 43319236 A T g.43319236A>T ENST00000380486.3 c.1796T>A p.Leu599Gln missense_variant benign Huh7 Missense Mutation PKNOX1 chr21 44450041 44450041 G T g.44450041G>T ENST00000291547.5 c.1141G>T p.Asp381Tyr missense_variant probably damaging Huh7 Missense Mutation COL6A2 chr21 47552378 47552378 G A g.47552378G>A ENST00000300527.4 c.2972G>A p.Gly991Asp missense_variant probably damaging Huh7 Missense Mutation HIRA chr22 19381954 19381954 T G g.19381954T>G ENST00000263208.5 c.733A>C p.Asn245His missense_variant probably damaging Huh7 Missense Mutation NEFH chr22 29885151 29885151 G C g.29885151G>C ENST00000310624.6 c.1522G>C p.Glu508Gln missense_variant benign Huh7 Missense Mutation NEFH chr22 29885506 29885506 C G g.29885506C>G ENST00000310624.6 c.1877C>G p.Ala626Gly missense_variant benign Huh7 Missense Mutation PES1 chr22 30973082 30973082 T C g.30973082T>C ENST00000354694.7 c.1718A>G p.Asp573Gly missense_variant probably damaging Huh7 Missense Mutation MYH9 chr22 36697093 36697093 T A g.36697093T>A ENST00000216181.5 c.2642A>T p.Glu881Val missense_variant possibly damaging Huh7 Missense Mutation IMPG2 chr3 100962764 100962764 C A g.100962764C>A ENST00000193391.7 c.2411G>T p.Ser804Ile missense_variant possibly damaging Huh7 Missense Mutation NXPE3 chr3 101535840 101535840 T C g.101535840T>C ENST00000273347.5 c.1124T>C p.Val375Ala missense_variant probably damaging Huh7 Missense Mutation PHLDB2 chr3 111637931 111637931 A G g.111637931A>G ENST00000393925.3 c.1732A>G p.Ile578Val missense_variant benign Huh7 Missense Mutation SLC12A8 chr3 124896721 124896721 G A g.124896721G>A ENST00000393469.4 c.488C>T p.Ala163Val missense_variant benign Huh7 Missense Mutation NEK11 chr3 130851623 130851623 G A g.130851623G>A ENST00000356918.4 c.490G>A p.Val164Ile missense_variant benign Huh7 Missense Mutation GRK7 chr3 141535804 141535804 G C g.141535804G>C ENST00000264952.2 c.1574G>C p.Gly525Ala missense_variant probably damaging Huh7 Missense Mutation HLTF chr3 148793672 148793672 C T g.148793672C>T ENST00000310053.5 c.391G>A p.Glu131Lys missense_variant probably damaging Huh7 Missense Mutation LRRC34 chr3 169521965 169521965 T C g.169521965T>C ENST00000316515.7 c.494A>G p.Asn165Ser missense_variant probably damaging Huh7 Missense Mutation PLCL2 chr3 17056272 17056272 G T g.17056272G>T ENST00000396755.2 c.2509G>T p.Val837Leu missense_variant benign Huh7 Missense Mutation PSMD2 chr3 184018087 184018087 A G g.184018087A>G ENST00000310118.4 c.212A>G p.Tyr71Cys missense_variant possibly damaging Huh7 Missense Mutation EFHB chr3 19959897 19959897 G A g.19959897G>A ENST00000295824.9 c.1004C>T p.Thr335Ile missense_variant benign Huh7 Missense Mutation XYLB chr3 38415961 38415961 G T g.38415961G>T ENST00000207870.3 c.856G>T p.Ala286Ser missense_variant possibly damaging Huh7 Missense Mutation SCN5A chr3 38655260 38655260 G A g.38655260G>A ENST00000333535.4 c.677C>T p.Ala226Val missense_variant damaging Huh7 Missense Mutation MYRIP chr3 40231710 40231710 G T g.40231710G>T ENST00000302541.6 c.1421G>T p.Trp474Leu missense_variant probably damaging Huh7 Missense Mutation ENTPD3 chr3 40457454 40457454 G A g.40457454G>A ENST00000301825.3 c.721G>A p.Asp241Asn missense_variant possibly damaging Huh7 Missense Mutation ZNF619 chr3 40529116 40529116 A T g.40529116A>T ENST00000314686.5 c.1067A>T p.Tyr356Phe missense_variant possibly damaging Huh7 Missense Mutation TRAK1 chr3 42251688 42251688 C T g.42251688C>T ENST00000341421.3 c.2000C>T p.Ser667Phe missense_variant benign Huh7 Missense Mutation ZNF662 chr3 42956146 42956146 G A g.42956146G>A ENST00000440367.2 c.581G>A p.Cys194Tyr missense_variant probably damaging Huh7 Missense Mutation KLHL18 chr3 47324492 47324492 G A g.47324492G>A ENST00000232766.5 c.37G>A p.Val13Met missense_variant benign Huh7 Missense Mutation RNF123 chr3 49750001 49750001 G T g.49750001G>T ENST00000327697.6 c.2586G>T p.Met862Ile missense_variant benign Huh7 Missense Mutation RNF123 chr3 49757993 49757993 C T g.49757993C>T ENST00000327697.6 c.3550C>T p.Arg1184Cys missense_variant probably damaging Huh7 Missense Mutation FAM212A chr3 49842205 49842205 C T g.49842205C>T ENST00000333323.4 c.649C>T p.Arg217Cys missense_variant probably damaging Huh7 Missense Mutation MANF chr3 51426357 51426357 C T g.51426357C>T ENST00000528157.1 c.386C>T p.Thr129Ile missense_variant probably damaging Huh7 Missense Mutation RAD54L2 chr3 51697126 51697126 G T g.51697126G>T ENST00000409535.2 c.4094G>T p.Ser1365Ile missense_variant possibly damaging Huh7 Missense Mutation COL8A1 chr3 99509813 99509813 C T g.99509813C>T ENST00000261037.3 c.287C>T p.Ala96Val missense_variant benign Huh7 Missense Mutation ZNF518B chr4 10447628 10447628 G A g.10447628G>A ENST00000326756.3 c.325C>T p.His109Tyr missense_variant benign Huh7 Missense Mutation RNF212 chr4 1087540 1087540 G C g.1087540G>C ENST00000333673.5 c.509C>G p.Pro170Arg missense_variant damaging Huh7 Missense Mutation CFI chr4 110670422 110670422 C A g.110670422C>A ENST00000394634.2 c.1100G>T p.Gly367Val missense_variant probably damaging Huh7 Missense Mutation HS3ST1 chr4 11401017 11401017 G A g.11401017G>A ENST00000002596.5 c.613C>T p.Arg205Cys missense_variant probably damaging Huh7 Missense Mutation ARSJ chr4 114824139 114824139 A G g.114824139A>G ENST00000315366.7 c.1091T>C p.Leu364Pro missense_variant probably damaging Huh7 Missense Mutation SEC24D chr4 119659487 119659487 G C g.119659487G>C ENST00000280551.6 c.2425C>G p.Leu809Val missense_variant possibly damaging Huh7 Missense Mutation C4orf29 chr4 128949873 128949873 A T g.128949873A>T ENST00000398965.1 c.943A>T p.Ser315Cys missense_variant possibly damaging Huh7 Missense Mutation LRBA chr4 151771931 151771931 G A g.151771931G>A ENST00000357115.3 c.3949C>T p.Arg1317Cys missense_variant probably damaging Huh7 Missense Mutation DCHS2 chr4 155412222 155412222 G T g.155412222G>T ENST00000339452.1 c.286C>A p.Gln96Lys missense_variant benign Huh7 Missense Mutation PACRGL chr4 20706388 20706388 A G g.20706388A>G ENST00000295290.8 c.158A>G p.Lys53Arg missense_variant benign Huh7 Missense Mutation ARAP2 chr4 36152588 36152588 C T g.36152588C>T ENST00000303965.4 c.2831G>A p.Gly944Asp missense_variant probably damaging Huh7 Missense Mutation LIAS chr4 39465235 39465235 G A g.39465235G>A NM_001278591.1 c.403G>A p.Ala135Thr missense_variant NA Huh7 Missense Mutation GSX2 chr4 54966644 54966644 G C g.54966644G>C ENST00000326902.2 c.133G>C p.Val45Leu missense_variant benign Huh7 Missense Mutation MFSD7 chr4 675842 675842 G A g.675842G>A ENST00000322224.4 c.1585C>T p.Arg529Cys missense_variant probably damaging Huh7 Missense Mutation ENAM chr4 71508215 71508215 G A g.71508215G>A ENST00000396073.3 c.1072G>A p.Gly358Ser missense_variant benign Huh7 Missense Mutation ADAMTS3 chr4 73185633 73185633 G C g.73185633G>C ENST00000286657.4 c.1150C>G p.Leu384Val missense_variant probably damaging Huh7 Missense Mutation HPSE chr4 84243494 84243494 G T g.84243494G>T ENST00000311412.5 c.251C>A p.Ala84Asp missense_variant probably damaging Huh7 Missense Mutation NKD2 chr5 1038009 1038009 G A g.1038009G>A ENST00000296849.5 c.877G>A p.Ala293Thr missense_variant benign Huh7 Missense Mutation DNAH5 chr5 13770951 13770951 G A g.13770951G>A ENST00000265104.4 c.9512C>T p.Thr3171Ile missense_variant possibly damaging Huh7 Missense Mutation PCDHGA12 chr5 140810363 140810363 C G g.140810363C>G ENST00000252085.3 c.37C>G p.Leu13Val missense_variant benign Huh7 Missense Mutation AFAP1L1 chr5 148697435 148697435 G A g.148697435G>A ENST00000296721.4 c.1411G>A p.Gly471Ser missense_variant possibly damaging Huh7 Missense Mutation SOX30 chr5 157065398 157065398 A G g.157065398A>G ENST00000265007.6 c.1720T>C p.Cys574Arg missense_variant probably damaging Huh7 Missense Mutation MARCH11 chr5 16177913 16177913 A T g.16177913A>T ENST00000332432.8 c.615T>A p.Ser205Arg missense_variant probably damaging Huh7 Missense Mutation SLIT3 chr5 168098321 168098321 C T g.168098321C>T ENST00000404867.3 c.4009G>A p.Val1337Met missense_variant benign Huh7 Missense Mutation IRX4 chr5 1878508 1878508 C T g.1878508C>T ENST00000231357.2 c.1135G>A p.Ala379Thr missense_variant probably damaging Huh7 Missense Mutation SPEF2 chr5 35700668 35700668 G A g.35700668G>A ENST00000356031.3 c.2212G>A p.Glu738Lys missense_variant probably damaging Huh7 Missense Mutation CARD6 chr5 40853032 40853032 G A g.40853032G>A ENST00000254691.5 c.1598G>A p.Arg533His missense_variant possibly damaging Huh7 Missense Mutation HTR1A chr5 63257083 63257083 G C g.63257083G>C ENST00000323865.3 c.464C>G p.Ala155Gly missense_variant possibly damaging Huh7 Missense Mutation GPR98 chr5 90052319 90052319 G T g.90052319G>T ENST00000405460.2 c.11629G>T p.Val3877Leu missense_variant probably damaging Huh7 Missense Mutation ROS1 chr6 117683822 117683822 A C g.117683822A>C ENST00000368508.3 c.3325T>G p.Ser1109Ala missense_variant benign Huh7 Missense Mutation VNN1 chr6 133035012 133035012 G A g.133035012G>A ENST00000367928.4 c.163C>T p.Arg55Trp missense_variant probably damaging Huh7 Missense Mutation SASH1 chr6 148840728 148840728 G C g.148840728G>C ENST00000367467.3 c.908G>C p.Arg303Pro missense_variant possibly damaging Huh7 Missense Mutation ZC3H12D chr6 149772045 149772045 G A g.149772045G>A ENST00000389942.5 c.1358C>T p.Ala453Val missense_variant benign Huh7 Missense Mutation SYNE1 chr6 152757143 152757143 G T g.152757143G>T ENST00000265368.4 c.4243C>A p.Leu1415Met missense_variant possibly damaging Huh7 Missense Mutation TULP4 chr6 158923543 158923543 C T g.158923543C>T ENST00000367097.3 c.2848C>T p.Arg950Cys missense_variant probably damaging Huh7 Missense Mutation HIST1H1T chr6 26107837 26107837 T C g.26107837T>C ENST00000338379.4 c.485A>G p.Lys162Arg missense_variant benign Huh7 Missense Mutation HIST1H2BJ chr6 27100356 27100356 C A g.27100356C>A ENST00000339812.2 c.174G>T p.Lys58Asn missense_variant possibly damaging Huh7 Missense Mutation OR14J1 chr6 29275337 29275337 C T g.29275337C>T ENST00000377160.2 c.871C>T p.Arg291Trp missense_variant probably damaging Huh7 Missense Mutation C6orf47 chr6 31627126 31627126 C G g.31627126C>G ENST00000375911.1 c.599G>C p.Arg200Pro missense_variant possibly damaging Huh7 Missense Mutation ITPR3 chr6 33639826 33639826 A C g.33639826A>C ENST00000374316.5 c.2749A>C p.Ile917Leu missense_variant benign Huh7 Missense Mutation IP6K3 chr6 33690828 33690828 G C g.33690828G>C ENST00000293756.4 c.902C>G p.Pro301Arg missense_variant probably damaging Huh7 Missense Mutation GPR115 chr6 47682279 47682279 C T g.47682279C>T ENST00000283303.2 c.1298C>T p.Thr433Met missense_variant probably damaging Huh7 Missense Mutation PPP1R3G chr6 5085961 5085961 G T g.5085961G>T ENST00000405617.2 c.242G>T p.Arg81Leu missense_variant possibly damaging Huh7 Missense Mutation KIAA1586 chr6 56917640 56917640 A G g.56917640A>G ENST00000370733.4 c.343A>G p.Ile115Val missense_variant benign Huh7 Missense Mutation RREB1 chr6 7211096 7211096 C T g.7211096C>T ENST00000334984.6 c.485C>T p.Pro162Leu missense_variant probably damaging Huh7 Missense Mutation KIAA1009 chr6 84910579 84910579 C A g.84910579C>A ENST00000403245.3 c.763G>T p.Asp255Tyr missense_variant probably damaging Huh7 Missense Mutation C6orf165 chr6 88144701 88144701 A G g.88144701A>G ENST00000507897.1 c.1424A>G p.Lys475Arg missense_variant possibly damaging Huh7 Missense Mutation MDN1 chr6 90353825 90353825 G A g.90353825G>A ENST00000369393.3 c.16690C>T p.Pro5564Ser missense_variant probably damaging Huh7 Missense Mutation MDN1 chr6 90384164 90384164 C G g.90384164C>G ENST00000369393.3 c.12906G>C p.Glu4302Asp missense_variant possibly damaging Huh7 Missense Mutation MDN1 chr6 90385826 90385826 C T g.90385826C>T ENST00000369393.3 c.12640G>A p.Ala4214Thr missense_variant benign Huh7 Missense Mutation BAGE2 chr21 11098710 11098710 G A g.11098710G>A NM_182482.2 c.8C>T p.Ala3Val missense_variant NA Huh7 Missense Mutation TSC22D4 chr7 100075505 100075505 C G g.100075505C>G ENST00000300181.2 c.157G>C p.Gly53Arg missense_variant probably damaging Huh7 Missense Mutation MUC17 chr7 100680054 100680054 C G g.100680054C>G ENST00000306151.4 c.5357C>G p.Ala1786Gly missense_variant benign Huh7 Missense Mutation DOCK4 chr7 111508068 111508068 T C g.111508068T>C ENST00000428084.1 c.2252A>G p.Lys751Arg missense_variant benign Huh7 Missense Mutation TMEM168 chr7 112407779 112407779 C A g.112407779C>A ENST00000312814.6 c.1567G>T p.Asp523Tyr missense_variant possibly damaging Huh7 Missense Mutation CTTNBP2 chr7 117359681 117359681 C G g.117359681C>G ENST00000160373.3 c.4521G>C p.Glu1507Asp missense_variant probably damaging Huh7 Missense Mutation CPED1 chr7 120737875 120737875 C T g.120737875C>T ENST00000310396.5 c.739C>T p.Arg247Cys missense_variant probably damaging Huh7 Missense Mutation PAX4 chr7 127254587 127254587 G A g.127254587G>A ENST00000341640.2 c.361C>T p.Arg121Trp missense_variant probably damaging Huh7 Missense Mutation METTL2B chr7 128119433 128119433 A G g.128119433A>G ENST00000262432.8 c.424A>G p.Lys142Glu missense_variant benign Huh7 Missense Mutation CALD1 chr7 134625907 134625907 G T g.134625907G>T ENST00000361675.2 c.1451G>T p.Arg484Leu missense_variant benign Huh7 Missense Mutation EPHB6 chr7 142568333 142568333 A C g.142568333A>C ENST00000392957.2 c.2852A>C p.Asp951Ala missense_variant benign Huh7 Missense Mutation KEL chr7 142658922 142658922 C T g.142658922C>T ENST00000355265.2 c.41G>A p.Arg14His missense_variant benign Huh7 Missense Mutation CNTNAP2 chr7 146741084 146741084 C T g.146741084C>T ENST00000361727.3 c.488C>T p.Pro163Leu missense_variant probably damaging Huh7 Missense Mutation PTPRN2 chr7 157475554 157475554 A T g.157475554A>T ENST00000389418.4 c.1864T>A p.Ser622Thr missense_variant benign Huh7 Missense Mutation WDR60 chr7 158734712 158734712 G A g.158734712G>A ENST00000407559.3 c.2875G>A p.Gly959Ser missense_variant benign Huh7 Missense Mutation ELFN1 chr7 1786409 1786409 C T g.1786409C>T ENST00000424383.2 c.2177C>T p.Pro726Leu missense_variant benign Huh7 Missense Mutation HDAC9 chr7 18669091 18669091 G A g.18669091G>A ENST00000405010.3 c.774G>A p.Met258Ile missense_variant benign Huh7 Missense Mutation ABCB5 chr7 20762686 20762686 G A g.20762686G>A ENST00000404938.2 c.2469G>A p.Met823Ile missense_variant benign Huh7 Missense Mutation DNAH11 chr7 21630971 21630971 A T g.21630971A>T ENST00000328843.6 c.2443A>T p.Arg815Trp missense_variant possibly damaging Huh7 Missense Mutation CDK13 chr7 40027618 40027618 G T g.40027618G>T ENST00000181839.4 c.1632G>T p.Gln544His missense_variant probably damaging Huh7 Missense Mutation CASP8AP2 chr6 90576744 90576744 G T g.90576744G>T NM_001137667.1 c.3735G>T p.K1245N missense_variant probably damaging Huh7 Missense Mutation ZNF107 chr7 64166957 64166957 A G g.64166957A>G ENST00000344930.3 c.275A>G p.Asn92Ser missense_variant possibly damaging Huh7 Missense Mutation ERV3-1 chr7 64452586 64452586 A C g.64452586A>C ENST00000394323.2 c.819T>G p.Ser273Arg missense_variant benign Huh7 Missense Mutation TECPR1 chr7 97862960 97862960 G A g.97862960G>A ENST00000379795.3 c.1445C>T p.Pro482Leu missense_variant benign Huh7 Missense Mutation UBR5 chr8 103293724 103293724 C T g.103293724C>T ENST00000220959.4 c.5720G>A p.Arg1907His missense_variant probably damaging Huh7 Missense Mutation NUDCD1 chr8 110255296 110255296 C A g.110255296C>A ENST00000239690.4 c.1694G>T p.Arg565Ile missense_variant probably damaging Huh7 Missense Mutation TRPS1 chr8 116632144 116632144 G T g.116632144G>T ENST00000395713.2 c.181C>A p.Gln61Lys missense_variant benign Huh7 Missense Mutation FAM91A1 chr8 124810453 124810453 G T g.124810453G>T ENST00000334705.7 c.1535G>T p.Arg512Leu missense_variant possibly damaging Huh7 Missense Mutation RNF139 chr8 125498267 125498267 T C g.125498267T>C ENST00000303545.3 c.377T>C p.Leu126Pro missense_variant possibly damaging Huh7 Missense Mutation GSDMD chr8 144641997 144641997 A G g.144641997A>G ENST00000262580.4 c.268A>G p.Ile90Val missense_variant benign Huh7 Missense Mutation MCM4 chr8 48877247 48877247 G C g.48877247G>C ENST00000262105.2 c.807G>C p.Lys269Asn missense_variant benign Huh7 Missense Mutation PREX2 chr8 69002946 69002946 C T g.69002946C>T ENST00000288368.4 c.2246C>T p.Thr749Met missense_variant benign Huh7 Missense Mutation TMOD1 chr9 100326392 100326392 T A g.100326392T>A ENST00000259365.4 c.560T>A p.Leu187Gln missense_variant probably damaging Huh7 Missense Mutation FOXE1 chr9 100616854 100616854 C A g.100616854C>A ENST00000375123.3 c.658C>A p.Pro220Thr missense_variant possibly damaging Huh7 Missense Mutation OR13C3 chr9 107298923 107298923 A G g.107298923A>G ENST00000374781.2 c.172T>C p.Phe58Leu missense_variant probably damaging Huh7 Missense Mutation SVEP1 chr9 113170061 113170061 T C g.113170061T>C ENST00000401783.2 c.7819A>G p.Thr2607Ala missense_variant benign Huh7 Missense Mutation SSPO chr7 149519200 149519200 C A g.149519200C>A NM_198455.2 c.13018C>A p.Pro4335His missense_variant probably damaging Huh7 Missense Mutation TNC chr9 117848667 117848667 C A g.117848667C>A ENST00000340094.3 c.1343G>T p.Arg448Leu missense_variant benign Huh7 Missense Mutation MEGF9 chr9 123476408 123476408 C T g.123476408C>T ENST00000373930.3 c.229G>A p.Ala77Thr missense_variant benign Huh7 Missense Mutation MORN5 chr9 124931993 124931993 C T g.124931993C>T ENST00000373764.3 c.265C>T p.Arg89Trp missense_variant probably damaging Huh7 Missense Mutation RAPGEF1 chr9 134501621 134501621 C G g.134501621C>G ENST00000372189.3 c.1339G>C p.Gly447Arg missense_variant benign Huh7 Missense Mutation AK8 chr9 135601155 135601155 T A g.135601155T>A ENST00000298545.3 c.1360A>T p.Asn454Tyr missense_variant probably damaging Huh7 Missense Mutation ADAMTS13 chr9 136302030 136302030 G A g.136302030G>A ENST00000355699.2 c.1390G>A p.Gly464Ser missense_variant benign Huh7 Missense Mutation FCN2 chr9 137778330 137778330 C G g.137778330C>G ENST00000291744.6 c.614C>G p.Ala205Gly missense_variant probably damaging Huh7 Missense Mutation FCN1 chr9 137804350 137804350 G T g.137804350G>T ENST00000371806.3 c.580C>A p.His194Asn missense_variant probably damaging Huh7 Missense Mutation CARD9 chr9 139264216 139264216 T C g.139264216T>C ENST00000315908.7 c.1063A>G p.Ile355Val missense_variant benign Huh7 Missense Mutation NOTCH1 chr9 139417493 139417493 T C g.139417493T>C ENST00000277541.6 c.551A>G p.Gln184Arg missense_variant benign Huh7 Missense Mutation TEK chr9 27212788 27212788 C G g.27212788C>G ENST00000380036.4 c.2770C>G p.Pro924Ala missense_variant probably damaging Huh7 Missense Mutation GALT chr9 34646726 34646726 C G g.34646726C>G ENST00000378842.3 c.25C>G p.Gln9Glu missense_variant benign Huh7 Missense Mutation UNC13B chr9 35403509 35403509 G A g.35403509G>A ENST00000378495.3 c.4403G>A p.Gly1468Asp missense_variant probably damaging Huh7 Missense Mutation INSL4 chr9 5233858 5233858 C T g.5233858C>T ENST00000239316.4 c.401C>T p.Ser134Leu missense_variant benign Huh7 Missense Mutation FAM189A2 chr9 72003275 72003275 T A g.72003275T>A ENST00000257515.8 c.1058T>A p.Ile353Asn missense_variant probably damaging Huh7 Missense Mutation VPS13A chr9 79828157 79828157 G A g.79828157G>A ENST00000357409.5 c.623G>A p.Arg208Gln missense_variant probably damaging Huh7 Missense Mutation DCX chrX 110644270 110644270 A T g.110644270A>T ENST00000338081.3 c.896T>A p.Ile299Asn missense_variant probably damaging Huh7 Missense Mutation TLR7 chrX 12905476 12905476 G C g.12905476G>C ENST00000380659.3 c.1849G>C p.Glu617Gln missense_variant benign Huh7 Missense Mutation GPR112 chrX 135488099 135488099 T G g.135488099T>G ENST00000370652.1 c.8903T>G p.Leu2968Trp missense_variant probably damaging Huh7 Missense Mutation MAGEC1 chrX 140994400 140994400 C T g.140994400C>T ENST00000285879.4 c.1210C>T p.Pro404Ser missense_variant benign Huh7 Missense Mutation IRAK1 chrX 153278748 153278748 G A g.153278748G>A ENST00000369980.3 c.1676C>T p.Ala559Val missense_variant benign Huh7 Missense Mutation PLXNA3 chrX 153688759 153688759 C T g.153688759C>T ENST00000369682.3 c.236C>T p.Pro79Leu missense_variant probably damaging Huh7 Missense Mutation GPR64 chrX 19086846 19086846 G A g.19086846G>A ENST00000340581.3 c.107C>T p.Thr36Ile missense_variant possibly damaging Huh7 Missense Mutation APOO chrX 23897049 23897049 A G g.23897049A>G ENST00000379220.3 c.220T>C p.Tyr74His missense_variant possibly damaging Huh7 Missense Mutation POTEA chr8 43157153 43157153 A G g.43157153A>G NM_001005365.2 c.733A>G p.Ser245Gly missense_variant benign Huh7 Missense Mutation DCAF8L1 chrX 27998073 27998073 C A g.27998073C>A ENST00000441525.1 c.1379G>T p.Gly460Val missense_variant probably damaging Huh7 Missense Mutation PCSK1N chrX 48690660 48690660 G A g.48690660G>A ENST00000218230.5 c.206C>T p.Ala69Val missense_variant benign Huh7 Missense Mutation AMER1 chrX 63412481 63412481 G A g.63412481G>A ENST00000330258.3 c.686C>T p.Ala229Val missense_variant benign Huh7 Missense Mutation HEPH chrX 65409583 65409583 G A g.65409583G>A ENST00000343002.2 c.866G>A p.Arg289His missense_variant benign Huh7 Missense Mutation TAF1 chrX 70596818 70596818 G T g.70596818G>T ENST00000276072.3 c.551G>T p.Gly184Val missense_variant probably damaging Huh7 Missense Mutation RGAG4 chrX 71350537 71350537 C T g.71350537C>T ENST00000479991.1 c.854G>A p.Arg285His missense_variant,NMD_transcript_variant benign Mahlavu Missense Mutation RNPC3 chr1 104076367 104076367 A G g.104076367A>G ENST00000423855.2 c.247A>G p.Thr83Ala missense_variant benign Mahlavu Missense Mutation FAM19A3 chr1 113266684 113266684 G A g.113266684G>A ENST00000369630.3 c.383G>A p.Arg128Gln missense_variant benign Mahlavu Missense Mutation MAGI3 chr1 114128215 114128215 G T g.114128215G>T ENST00000307546.9 c.760G>T p.Ala254Ser missense_variant benign Mahlavu Missense Mutation TRIM45 chr1 117663633 117663633 A T g.117663633A>T ENST00000256649.4 c.191T>A p.Ile64Asn missense_variant benign Mahlavu Missense Mutation C1orf167 chr1 11836524 11836524 G A g.11836524G>A ENST00000433342.1 c.2240G>A p.R747H missense_variant benign Mahlavu Missense Mutation PLOD1 chr1 12017933 12017933 G A g.12017933G>A ENST00000196061.4 c.776G>A p.Arg259His missense_variant benign Mahlavu Missense Mutation HNRNPCL1 chr1 12907689 12907689 T A g.12907689T>A ENST00000317869.6 c.454A>T p.Thr152Ser missense_variant benign Mahlavu Missense Mutation FMO5 chr1 146672802 146672802 A T g.146672802A>T ENST00000254090.4 c.1115T>A p.Ile372Asn missense_variant probably damaging Mahlavu Missense Mutation GJA8 chr1 147380104 147380104 G A g.147380104G>A ENST00000240986.4 c.22G>A p.Gly8Arg missense_variant probably damaging Mahlavu Missense Mutation PRPF3 chr1 150305538 150305538 C T g.150305538C>T ENST00000324862.6 c.596C>T p.Ala199Val missense_variant possibly damaging Mahlavu Missense Mutation TCHH chr1 152080928 152080928 G T g.152080928G>T ENST00000368804.1 c.4765C>A p.Arg1589Ser missense_variant possibly damaging Mahlavu Missense Mutation FLG chr1 152282882 152282882 C A g.152282882C>A ENST00000368799.1 c.4480G>T p.Gly1494Trp missense_variant probably damaging Mahlavu Missense Mutation ETV3 chr1 157094812 157094812 T A g.157094812T>A ENST00000368192.4 c.1360A>T p.Arg454Trp missense_variant possibly damaging Mahlavu Missense Mutation SLAMF8 chr1 159802824 159802824 C G g.159802824C>G ENST00000289707.5 c.526C>G p.Pro176Ala missense_variant benign Mahlavu Missense Mutation TNR chr1 175331892 175331892 T C g.175331892T>C ENST00000263525.2 c.2761A>G p.Thr921Ala missense_variant benign Mahlavu Missense Mutation PAPPA2 chr1 176738764 176738764 T C g.176738764T>C ENST00000367662.3 c.4345T>C p.Ser1449Pro missense_variant probably damaging Mahlavu Missense Mutation PAX7 chr1 19018263 19018263 A G g.19018263A>G ENST00000375375.3 c.602A>G p.Glu201Gly missense_variant benign Mahlavu Missense Mutation GABRD chr1 1959617 1959617 G A g.1959617G>A ENST00000378585.4 c.577G>A p.Val193Ile missense_variant probably damaging Mahlavu Missense Mutation IGFN1 chr1 201176558 201176558 G A g.201176558G>A ENST00000335211.4 c.2537G>A p.Ser846Asn missense_variant benign Mahlavu Missense Mutation PKP1 chr1 201289457 201289457 C T g.201289457C>T ENST00000263946.3 c.1358C>T p.Ser453Phe missense_variant probably damaging Mahlavu Missense Mutation PKP1 chr1 201293614 201293614 C T g.201293614C>T ENST00000263946.3 c.1802C>T p.Ala601Val missense_variant possibly damaging Mahlavu Missense Mutation PPFIA4 chr1 203033098 203033098 G T g.203033098G>T ENST00000272198.6 c.1499G>T p.Arg500Leu missense_variant damaging Mahlavu Missense Mutation PLXNA2 chr1 208272261 208272261 G A g.208272261G>A ENST00000367033.3 c.1661C>T p.Ala554Val missense_variant benign Mahlavu Missense Mutation PDZD7 chr10 102770269 102770269 C T g.102770269C>T NM_001195263.1 c.2377G>A p.Gly793Ser missense_variant benign Mahlavu Missense Mutation LAMB3 chr1 209807841 209807841 C T g.209807841C>T ENST00000356082.4 c.515G>A p.Arg172Gln missense_variant benign Mahlavu Missense Mutation USH2A chr1 216243530 216243530 T G g.216243530T>G ENST00000307340.3 c.5962A>C p.Ile1988Leu missense_variant benign Mahlavu Missense Mutation IARS2 chr1 220267743 220267743 A T g.220267743A>T ENST00000302637.5 c.185A>T p.Asp62Val missense_variant benign Mahlavu Missense Mutation TMEM63A chr1 226037685 226037685 C T g.226037685C>T ENST00000366835.3 c.1999G>A p.Ala667Thr missense_variant probably damaging Mahlavu Missense Mutation CNR2 chr1 24201434 24201434 C A g.24201434C>A ENST00000374472.4 c.674G>T p.Gly225Val missense_variant benign Mahlavu Missense Mutation KIF26B chr1 245318753 245318753 G C g.245318753G>C ENST00000407071.2 c.27G>C p.Glu9Asp missense_variant benign Mahlavu Missense Mutation NLRP3 chr1 247607296 247607296 T C g.247607296T>C ENST00000336119.3 c.2692T>C p.Ser898Pro missense_variant benign Mahlavu Missense Mutation OR1C1 chr1 247921218 247921218 G T g.247921218G>T ENST00000408896.2 c.491C>A p.Ala164Glu missense_variant possibly damaging Mahlavu Missense Mutation ZNF692 chr1 249149802 249149802 G A g.249149802G>A ENST00000306601.4 c.914C>T p.Pro305Leu missense_variant benign Mahlavu Missense Mutation RHCE chr1 25715490 25715490 T C g.25715490T>C ENST00000243186.6 c.916A>G p.Ile306Val missense_variant benign Mahlavu Missense Mutation CD164L2 chr1 27709708 27709708 C A g.27709708C>A ENST00000374025.3 c.22G>T p.Ala8Ser missense_variant benign Mahlavu Missense Mutation XKR8 chr1 28286677 28286677 G T g.28286677G>T ENST00000373884.5 c.97G>T p.Ala33Ser missense_variant probably damaging Mahlavu Missense Mutation ZBTB8OS chr1 33099579 33099579 G A g.33099579G>A ENST00000468695.1 c.253C>T p.Leu85Phe missense_variant probably damaging Mahlavu Missense Mutation A3GALT2 chr1 33772623 33772623 G A g.33772623G>A ENST00000442999.3 c.767C>T p.Ala256Val missense_variant damaging Mahlavu Missense Mutation HIVEP3 chr1 42046331 42046331 G T g.42046331G>T ENST00000247584.5 c.4138C>A p.Pro1380Thr missense_variant benign Mahlavu Missense Mutation ARTN chr1 44401781 44401781 C T g.44401781C>T ENST00000372354.3 c.77C>T p.Thr26Ile missense_variant benign Mahlavu Missense Mutation AJAP1 chr1 4772144 4772144 G T g.4772144G>T ENST00000378190.3 c.214G>T p.Ala72Ser missense_variant benign Mahlavu Missense Mutation ELAVL4 chr1 50610823 50610823 C G g.50610823C>G ENST00000371823.4 c.204C>G p.Ser68Arg missense_variant probably damaging Mahlavu Missense Mutation ZCCHC11 chr1 52991871 52991871 C T g.52991871C>T ENST00000257177.4 c.82G>A p.Val28Ile missense_variant benign Mahlavu Missense Mutation RAVER2 chr1 65280473 65280473 G T g.65280473G>T ENST00000371072.4 c.1840G>T p.Ala614Ser missense_variant benign Mahlavu Missense Mutation INSL5 chr1 67263856 67263856 G A g.67263856G>A ENST00000304526.2 c.248C>T p.Pro83Leu missense_variant benign Mahlavu Missense Mutation ASB17 chr1 76387977 76387977 T C g.76387977T>C ENST00000284142.6 c.469A>G p.Thr157Ala missense_variant benign Mahlavu Missense Mutation PARK7 chr1 8037714 8037714 C T g.8037714C>T ENST00000338639.5 c.325C>T p.Pro109Ser (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Missense Mutation BCL10 chr1 85733620 85733620 T C g.85733620T>C ENST00000370580.1 c.392A>G p.Asn131Ser missense_variant benign Mahlavu Missense Mutation LRRC8C chr1 90178722 90178722 C G g.90178722C>G ENST00000370454.4 c.593C>G p.Thr198Ser missense_variant benign Mahlavu Missense Mutation FNBP1L chr1 94014945 94014945 C T g.94014945C>T ENST00000271234.7 c.1613C>T p.Pro538Leu missense_variant probably damaging Mahlavu Missense Mutation CWF19L1 chr10 102006656 102006656 T C g.102006656T>C ENST00000354105.4 c.745A>G p.Met249Val missense_variant benign Mahlavu Missense Mutation CELF2 chr10 11207586 11207586 G T g.11207586G>T ENST00000379261.4 c.191G>T p.Gly64Val missense_variant probably damaging Mahlavu Missense Mutation FGFR2 chr10 123324040 123324040 C A g.123324040C>A ENST00000346997.2 c.430G>T p.Val144Phe missense_variant possibly damaging Mahlavu Missense Mutation PARD3 chr10 34606100 34606100 T G g.34606100T>G ENST00000346874.4 c.3009A>C p.Arg1003Ser missense_variant possibly damaging Mahlavu Missense Mutation FAM170B chr10 50340342 50340342 C G g.50340342C>G ENST00000311787.5 c.168G>C p.Glu56Asp missense_variant benign Mahlavu Missense Mutation BICC1 chr10 60588536 60588536 G T g.60588536G>T ENST00000373886.3 c.2810G>T p.Arg937Leu missense_variant possibly damaging Mahlavu Missense Mutation DUSP13 chr10 76865548 76865548 C T g.76865548C>T ENST00000372702.3 c.446G>A p.Arg149Gln missense_variant benign Mahlavu Missense Mutation WAPAL chr10 88257010 88257010 T G g.88257010T>G ENST00000298767.5 c.1592A>C p.Gln531Pro missense_variant benign Mahlavu Missense Mutation BTAF1 chr10 93719794 93719794 G C g.93719794G>C ENST00000265990.6 c.1146G>C p.Met382Ile missense_variant possibly damaging Mahlavu Missense Mutation ZFYVE27 chr10 99498362 99498362 C T g.99498362C>T ENST00000337540.7 c.128C>T p.Ser43Phe missense_variant benign Mahlavu Missense Mutation BIRC3 chr11 102201898 102201898 T G g.102201898T>G ENST00000263464.3 c.1250T>G p.Val417Gly missense_variant possibly damaging Mahlavu Missense Mutation DDI1 chr11 103908172 103908172 C G g.103908172C>G ENST00000302259.3 c.622C>G p.Arg208Gly missense_variant benign Mahlavu Missense Mutation C11orf87 chr11 109294463 109294463 C T g.109294463C>T ENST00000327419.6 c.104C>T p.Ala35Val missense_variant benign Mahlavu Missense Mutation NNMT chr11 114168844 114168844 C T g.114168844C>T ENST00000299964.3 c.326C>T p.Pro109Leu missense_variant probably damaging Mahlavu Missense Mutation KMT2A chr11 118361949 118361949 G T g.118361949G>T ENST00000389506.5 c.4735G>T p.Asp1579Tyr missense_variant probably damaging Mahlavu Missense Mutation HYOU1 chr11 118917388 118917388 T C g.118917388T>C ENST00000404233.3 c.2722A>G p.Lys908Glu missense_variant probably damaging Mahlavu Missense Mutation TECTA chr11 120998520 120998520 G A g.120998520G>A ENST00000264037.2 c.1834G>A p.Asp612Asn missense_variant benign Mahlavu Missense Mutation ST3GAL4 chr11 126283492 126283492 C G g.126283492C>G ENST00000227495.6 c.852C>G p.Asn288Lys missense_variant benign Mahlavu Missense Mutation KIRREL3 chr11 126294834 126294834 C T g.126294834C>T ENST00000525144.2 c.1978G>A p.Asp660Asn missense_variant possibly damaging Mahlavu Missense Mutation KIF18A chr11 28090850 28090850 C T g.28090850C>T ENST00000263181.6 c.1546G>A p.Glu516Lys missense_variant benign Mahlavu Missense Mutation OR52K2 chr11 4471474 4471474 G A g.4471474G>A ENST00000325719.4 c.905G>A p.Arg302His missense_variant benign Mahlavu Missense Mutation FNBP4 chr11 47744677 47744677 G T g.47744677G>T ENST00000263773.5 c.2656C>A p.Pro886Thr missense_variant benign Mahlavu Missense Mutation OR4B1 chr11 48238611 48238611 C T g.48238611C>T ENST00000309562.2 c.250C>T p.Leu84Phe missense_variant possibly damaging Mahlavu Missense Mutation OR4C16 chr11 55340054 55340054 T C g.55340054T>C ENST00000314634.3 c.451T>C p.Cys151Arg missense_variant benign Mahlavu Missense Mutation INCENP chr11 61898041 61898041 G A g.61898041G>A ENST00000278849.4 c.1042G>A p.Ala348Thr missense_variant benign Mahlavu Missense Mutation SIPA1 chr11 65415059 65415059 C G g.65415059C>G ENST00000394224.3 c.2236C>G p.Gln746Glu missense_variant benign Mahlavu Missense Mutation BBS1 chr11 66291319 66291319 G A g.66291319G>A ENST00000318312.7 c.1076G>A p.Arg359His missense_variant benign Mahlavu Missense Mutation LRP5 chr11 68115486 68115486 A G g.68115486A>G ENST00000294304.7 c.263A>G p.Lys88Arg missense_variant probably damaging Mahlavu Missense Mutation FGF4 chr11 69588217 69588217 G A g.69588217G>A ENST00000168712.1 c.481C>T p.Leu161Phe missense_variant probably damaging Mahlavu Missense Mutation FGF4 chr11 69588218 69588218 A C g.69588218A>C ENST00000168712.1 c.480T>G p.Ile160Met missense_variant benign Mahlavu Missense Mutation ZNF215 chr11 6977293 6977293 G C g.6977293G>C ENST00000278319.5 c.1085G>C p.Ser362Thr missense_variant benign Mahlavu Missense Mutation NUMA1 chr11 71719830 71719830 A G g.71719830A>G ENST00000393695.3 c.5120T>C p.Leu1707Ser missense_variant possibly damaging Mahlavu Missense Mutation TYR chr11 88911363 88911363 C G g.88911363C>G ENST00000263321.5 c.242C>G p.Pro81Arg missense_variant probably damaging Mahlavu Missense Mutation HEPHL1 chr11 93808505 93808505 C G g.93808505C>G ENST00000315765.9 c.1670C>G p.Pro557Arg missense_variant probably damaging Mahlavu Missense Mutation SBF2 chr11 9871650 9871650 G A g.9871650G>A ENST00000256190.8 c.2726C>T p.Pro909Leu missense_variant probably damaging Mahlavu Missense Mutation CLEC1B chr12 10149806 10149806 C T g.10149806C>T ENST00000298527.6 c.236G>A p.Arg79His missense_variant benign Mahlavu Missense Mutation UBE3B chr12 109924309 109924309 C T g.109924309C>T ENST00000280774.5 c.376C>T p.Leu126Phe missense_variant benign Mahlavu Missense Mutation TBX5 chr12 114804116 114804116 C T g.114804116C>T ENST00000310346.4 c.836G>A p.Arg279Gln missense_variant benign Mahlavu Missense Mutation CLIP1 chr12 122862499 122862499 G C g.122862499G>C ENST00000302528.7 c.94C>G p.Pro32Ala missense_variant benign Mahlavu Missense Mutation NCOR2 chr12 124971110 124971110 A G g.124971110A>G ENST00000356219.3 c.110T>C p.Val37Ala missense_variant benign Mahlavu Missense Mutation DUSP16 chr12 12630431 12630431 A T g.12630431A>T ENST00000228862.2 c.1334T>A p.Phe445Tyr missense_variant probably damaging Mahlavu Missense Mutation ZNF140 chr12 133682759 133682759 A G g.133682759A>G ENST00000355557.2 c.896A>G p.Lys299Arg missense_variant possibly damaging Mahlavu Missense Mutation LRMP chr12 25260936 25260936 T C g.25260936T>C ENST00000354454.3 c.1442T>C p.Leu481Pro missense_variant probably damaging Mahlavu Missense Mutation KIAA1551 chr12 32135769 32135769 T A g.32135769T>A ENST00000312561.4 c.1880T>A p.Leu627Gln missense_variant possibly damaging Mahlavu Missense Mutation KRT3 chr12 53186550 53186550 G C g.53186550G>C ENST00000309505.3 c.968C>G p.Ala323Gly missense_variant possibly damaging Mahlavu Missense Mutation OR6C70 chr12 55863710 55863710 G T g.55863710G>T ENST00000327335.4 c.213C>A p.Phe71Leu missense_variant benign Mahlavu Missense Mutation OR2AP1 chr12 55968724 55968724 T C g.55968724T>C ENST00000321688.1 c.526T>C p.Phe176Leu missense_variant damaging Mahlavu Missense Mutation INHBC chr12 57843792 57843792 G A g.57843792G>A ENST00000309668.2 c.1046G>A p.Cys349Tyr missense_variant probably damaging Mahlavu Missense Mutation ATN1 chr12 7044820 7044820 C A g.7044820C>A ENST00000356654.4 c.390C>A p.Ser130Arg missense_variant probably damaging Mahlavu Missense Mutation CSRP2 chr12 77259984 77259984 G T g.77259984G>T ENST00000311083.5 c.57C>A p.His19Gln missense_variant possibly damaging Mahlavu Missense Mutation PPFIA2 chr12 81833756 81833756 G C g.81833756G>C ENST00000548586.1 c.640C>G p.Gln214Glu missense_variant possibly damaging Mahlavu Missense Mutation NUDT4 chr12 93793145 93793145 G C g.93793145G>C ENST00000415493.2 c.533G>C p.Ser178Thr missense_variant benign Mahlavu Missense Mutation HAL chr12 96388590 96388590 G A g.96388590G>A ENST00000261208.3 c.322C>T p.Arg108Trp missense_variant probably damaging Mahlavu Missense Mutation TMCO3 chr13 114150004 114150004 C A g.114150004C>A ENST00000375391.1 c.108C>A p.His36Gln missense_variant benign Mahlavu Missense Mutation TFDP1 chr13 114290856 114290856 T C g.114290856T>C ENST00000375370.5 c.847T>C p.Tyr283His missense_variant probably damaging Mahlavu Missense Mutation GAS6 chr13 114531606 114531606 C T g.114531606C>T ENST00000327773.6 c.1222G>A p.Asp408Asn missense_variant benign Mahlavu Missense Mutation SACS chr13 23907664 23907664 C A g.23907664C>A ENST00000382292.3 c.10351G>T p.Ala3451Ser missense_variant possibly damaging Mahlavu Missense Mutation POMP chr13 29252187 29252187 A T g.29252187A>T ENST00000380842.4 c.374A>T p.Glu125Val missense_variant probably damaging Mahlavu Missense Mutation BRCA2 chr13 32914059 32914059 A G g.32914059A>G ENST00000380152.3 c.5567A>G p.His1856Arg missense_variant benign Mahlavu Missense Mutation VWA8 chr13 42303779 42303779 A G g.42303779A>G ENST00000281496.6 c.2537T>C p.Val846Ala missense_variant probably damaging Mahlavu Missense Mutation SPERT chr13 46288502 46288502 G T g.46288502G>T ENST00000310521.1 c.1342G>T p.Val448Phe missense_variant possibly damaging Mahlavu Missense Mutation CYSLTR2 chr13 49281828 49281828 C G g.49281828C>G ENST00000282018.3 c.875C>G p.Ala292Gly missense_variant possibly damaging Mahlavu Missense Mutation SPRY2 chr13 80911431 80911431 C T g.80911431C>T ENST00000377102.1 c.410G>A p.Gly137Glu missense_variant possibly damaging Mahlavu Missense Mutation ABCC4 chr13 95816684 95816684 C G g.95816684C>G ENST00000376887.4 c.2123G>C p.Gly708Ala missense_variant possibly damaging Mahlavu Missense Mutation GPR183 chr13 99948121 99948121 C T g.99948121C>T ENST00000376414.4 c.279G>A p.Met93Ile missense_variant benign Mahlavu Missense Mutation C14orf144 chr14 104710654 104710654 G T g.104710654G>T ENST00000419115.1 c.37G>T p.A13S missense_variant NA Mahlavu Missense Mutation C14orf180 chr14 105054979 105054979 C T g.105054979C>T ENST00000331952.2 c.298C>T p.Arg100Cys missense_variant benign Mahlavu Missense Mutation SIPA1L1 chr14 72138209 72138209 C G g.72138209C>G ENST00000358550.2 c.2629C>G p.Leu877Val missense_variant possibly damaging Mahlavu Missense Mutation IRF2BPL chr14 77492503 77492503 T C g.77492503T>C ENST00000238647.3 c.1633A>G p.Lys545Glu missense_variant probably damaging Mahlavu Missense Mutation DDX24 chr14 94528572 94528572 C T g.94528572C>T ENST00000330836.5 c.1114G>A p.Glu372Lys missense_variant benign Mahlavu Missense Mutation MTMR10 chr15 31260127 31260127 A C g.31260127A>C ENST00000435680.1 c.561T>G p.Asn187Lys missense_variant benign Mahlavu Missense Mutation RYR3 chr15 33954661 33954661 C T g.33954661C>T ENST00000389232.4 c.4930C>T p.Pro1644Ser missense_variant benign Mahlavu Missense Mutation CASC5 chr15 40915062 40915062 A G g.40915062A>G ENST00000346991.5 c.2678A>G p.Asp893Gly missense_variant benign Mahlavu Missense Mutation ZNF106 chr15 42743476 42743476 C G g.42743476C>G ENST00000263805.4 c.925G>C p.Glu309Gln missense_variant benign Mahlavu Missense Mutation HYPK chr15 44093933 44093933 G A g.44093933G>A ENST00000406925.1 c.319G>A p.Ala107Thr missense_variant benign Mahlavu Missense Mutation SLC24A5 chr15 48413333 48413333 C T g.48413333C>T ENST00000341459.3 c.92C>T p.Ser31Phe missense_variant benign Mahlavu Missense Mutation TMOD2 chr15 52060578 52060578 C G g.52060578C>G ENST00000249700.4 c.246C>G p.Asp82Glu missense_variant benign Mahlavu Missense Mutation FOXB1 chr15 60297445 60297445 G T g.60297445G>T ENST00000396057.4 c.283G>T p.Asp95Tyr missense_variant probably damaging Mahlavu Missense Mutation FOXB1 chr15 60297446 60297446 A T g.60297446A>T ENST00000396057.4 c.284A>T p.Asp95Val missense_variant probably damaging Mahlavu Missense Mutation TMC3 chr15 81665028 81665028 G A g.81665028G>A ENST00000359440.5 c.140C>T p.Pro47Leu missense_variant probably damaging Mahlavu Missense Mutation FANCI chr15 89836037 89836037 A C g.89836037A>C ENST00000300027.8 c.2111A>C p.Asp704Ala missense_variant benign Mahlavu Missense Mutation SYNM chr15 99672767 99672767 T G g.99672767T>G ENST00000336292.6 c.4199T>G p.F1400C missense_variant benign Mahlavu Missense Mutation RP11-166B2.1 chr16 12021361 12021361 G A g.12021361G>A ENST00000399147.4 c.1063C>T p.R355W missense_variant NA Mahlavu Missense Mutation RRN3 chr16 15159142 15159142 T C g.15159142T>C ENST00000198767.6 c.1640A>G p.Asp547Gly missense_variant benign Mahlavu Missense Mutation ABCC6 chr16 16248831 16248831 G A g.16248831G>A ENST00000205557.7 c.3940C>T p.Arg1314Trp missense_variant probably damaging Mahlavu Missense Mutation SMG1 chr16 18859197 18859197 C T g.18859197C>T ENST00000389467.3 c.5782G>A p.Asp1928Asn missense_variant probably damaging Mahlavu Missense Mutation NDUFB10 chr16 2011629 2011629 A G g.2011629A>G ENST00000268668.6 c.401A>G p.Gln134Arg missense_variant benign Mahlavu Missense Mutation ACSM1 chr16 20682948 20682948 G T g.20682948G>T ENST00000307493.4 c.657C>A p.Asp219Glu missense_variant possibly damaging Mahlavu Missense Mutation SRRM2 chr16 2819236 2819236 G T g.2819236G>T ENST00000301740.8 c.7972G>T p.Ala2658Ser missense_variant probably damaging Mahlavu Missense Mutation SPN chr16 29675275 29675275 C T g.29675275C>T ENST00000360121.3 c.226C>T p.Pro76Ser missense_variant benign Mahlavu Missense Mutation KCTD13 chr16 29923340 29923340 G C g.29923340G>C ENST00000308768.5 c.445C>G p.Leu149Val missense_variant,NMD_transcript_variant benign Mahlavu Missense Mutation TBC1D10B chr16 30380675 30380675 G C g.30380675G>C ENST00000409939.3 c.830C>G p.Ser277Cys missense_variant probably damaging Mahlavu Missense Mutation SRCAP chr16 30734934 30734934 A G g.30734934A>G ENST00000262518.4 c.4189A>G p.Ile1397Val missense_variant benign Mahlavu Missense Mutation MEFV chr16 3304386 3304386 G T g.3304386G>T ENST00000219596.1 c.682C>A p.Pro228Thr missense_variant benign Mahlavu Missense Mutation C16orf89 chr16 5105322 5105322 C T g.5105322C>T ENST00000315997.5 c.793G>A p.Asp265Asn missense_variant probably damaging Mahlavu Missense Mutation CCDC135 chr16 57761251 57761251 C T g.57761251C>T ENST00000360716.3 c.2126C>T p.Ala709Val missense_variant benign Mahlavu Missense Mutation MMP15 chr16 58074513 58074513 A G g.58074513A>G ENST00000219271.3 c.821A>G p.Asn274Ser missense_variant benign Mahlavu Missense Mutation TMEM208 chr16 67262702 67262702 A C g.67262702A>C ENST00000304800.9 c.302A>C p.His101Pro (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Missense Mutation HYDIN chr16 70954796 70954796 C T g.70954796C>T ENST00000393567.2 c.7483G>A p.Asp2495Asn missense_variant possibly damaging Mahlavu Missense Mutation HYDIN chr16 71101217 71101217 A G g.71101217A>G ENST00000321489.5 c.2051T>C p.Val684Ala missense_variant probably damaging Mahlavu Missense Mutation CLEC18B chr16 74447523 74447523 C T g.74447523C>T ENST00000339953.5 c.508G>A p.Ala170Thr missense_variant benign Mahlavu Missense Mutation TEX13C chrX 124456767 124456767 G T g.124456767G>T NM_001195272.1 c.2799G>T p.Lys933Asn missense_variant NA Mahlavu Missense Mutation MSLN chr16 813688 813688 C G g.813688C>G ENST00000382862.3 c.176C>G p.Ser59Cys missense_variant benign Mahlavu Missense Mutation PLCG2 chr16 81819742 81819742 C T g.81819742C>T ENST00000359376.3 c.148C>T p.Arg50Trp missense_variant probably damaging Mahlavu Missense Mutation ZCCHC14 chr16 87445127 87445127 C T g.87445127C>T ENST00000268616.4 c.2789G>A p.Arg930Gln missense_variant benign Mahlavu Missense Mutation SPIRE2 chr16 89936615 89936615 C G g.89936615C>G ENST00000378247.3 c.2080C>G p.Pro694Ala missense_variant possibly damaging Mahlavu Missense Mutation DNAH9 chr17 11648300 11648300 G A g.11648300G>A ENST00000262442.4 c.6298G>A p.Ala2100Thr missense_variant benign Mahlavu Missense Mutation DNAH9 chr17 11772541 11772541 G A g.11772541G>A ENST00000262442.4 c.10024G>A p.Ala3342Thr missense_variant benign Mahlavu Missense Mutation MYOCD chr17 12659820 12659820 C A g.12659820C>A ENST00000425538.1 c.2148C>A p.Ser716Arg missense_variant damaging Mahlavu Missense Mutation SCARF1 chr17 1540261 1540261 C A g.1540261C>A ENST00000263071.4 c.1460G>T p.Ser487Ile missense_variant probably damaging Mahlavu Missense Mutation CDK12 chr17 37687093 37687093 C T g.37687093C>T ENST00000447079.4 c.3997C>T p.Arg1333Cys missense_variant benign Mahlavu Missense Mutation CDK12 chr17 37687171 37687171 G T g.37687171G>T ENST00000447079.4 c.4075G>T p.Gly1359Cys missense_variant probably damaging Mahlavu Missense Mutation KRT33B chr17 39521705 39521705 T C g.39521705T>C ENST00000251646.3 c.689A>G p.Asn230Ser missense_variant benign Mahlavu Missense Mutation JUP chr17 39923785 39923785 T C g.39923785T>C ENST00000310706.5 c.755A>G p.Asn252Ser missense_variant probably damaging Mahlavu Missense Mutation GHDC chr17 40345365 40345365 G A g.40345365G>A ENST00000301671.8 c.235C>T p.Arg79Cys missense_variant probably damaging Mahlavu Missense Mutation CNTNAP1 chr17 40835887 40835887 G A g.40835887G>A ENST00000264638.4 c.116G>A p.Gly39Asp missense_variant benign Mahlavu Missense Mutation AOC2 chr17 40997790 40997790 T C g.40997790T>C ENST00000253799.3 c.1147T>C p.Phe383Leu missense_variant possibly damaging Mahlavu Missense Mutation C17orf105 chr17 41860627 41860627 C T g.41860627C>T ENST00000449302.3 c.394C>T p.Arg132Cys missense_variant benign Mahlavu Missense Mutation MKS1 chr17 56291639 56291639 C T g.56291639C>T ENST00000313863.6 c.625G>A p.Asp209Asn missense_variant probably damaging Mahlavu Missense Mutation CCDC47 chr17 61841513 61841513 T C g.61841513T>C ENST00000225726.5 c.410A>G p.Tyr137Cys missense_variant probably damaging Mahlavu Missense Mutation CEP95 chr17 62517603 62517603 C G g.62517603C>G ENST00000556440.2 c.673C>G p.Pro225Ala missense_variant benign Mahlavu Missense Mutation CEP112 chr17 64179341 64179341 G A g.64179341G>A ENST00000392769.2 c.77C>T p.Pro26Leu missense_variant probably damaging Mahlavu Missense Mutation OTOP3 chr17 72942794 72942794 G A g.72942794G>A ENST00000328801.4 c.844G>A p.Ala282Thr missense_variant benign Mahlavu Missense Mutation FBF1 chr17 73922170 73922170 C T g.73922170C>T ENST00000319129.5 c.767G>A p.Arg256His missense_variant benign Mahlavu Missense Mutation SEC14L1 chr17 75208180 75208180 C T g.75208180C>T ENST00000392476.2 c.1760C>T p.Pro587Leu missense_variant benign Mahlavu Missense Mutation TP53 chr17 7577534 7577534 C A g.7577534C>A ENST00000269305.4 c.747G>T p.Arg249Ser missense_variant probably damaging Mahlavu Missense Mutation STX8 chr17 9460823 9460823 A G g.9460823A>G ENST00000306357.4 c.140T>C p.Leu47Ser missense_variant benign Mahlavu Missense Mutation DHRS7C chr17 9680599 9680599 A T g.9680599A>T ENST00000571134.1 c.482T>A p.Leu162Gln missense_variant probably damaging Mahlavu Missense Mutation PTPN2 chr18 12814330 12814330 T C g.12814330T>C ENST00000309660.5 c.730A>G p.Ile244Val missense_variant benign Mahlavu Missense Mutation MYOM1 chr18 3174177 3174177 C T g.3174177C>T ENST00000261606.7 c.1052G>A p.Arg351Gln missense_variant probably damaging Mahlavu Missense Mutation TPGS2 chr18 34408685 34408685 G T g.34408685G>T ENST00000334295.4 c.46C>A p.His16Asn missense_variant probably damaging Mahlavu Missense Mutation SERPINB8 chr18 61653495 61653495 G C g.61653495G>C ENST00000397988.3 c.724G>C p.Glu242Gln missense_variant damaging Mahlavu Missense Mutation NETO1 chr18 70417576 70417576 C T g.70417576C>T ENST00000327305.6 c.1262G>A p.Arg421Gln missense_variant possibly damaging Mahlavu Missense Mutation LRRC30 chr18 7231552 7231552 G T g.7231552G>T ENST00000383467.2 c.416G>T p.Cys139Phe missense_variant probably damaging Mahlavu Missense Mutation ZNF236 chr18 74672668 74672668 A C g.74672668A>C ENST00000253159.8 c.5270A>C p.Lys1757Thr missense_variant possibly damaging Mahlavu Missense Mutation SMARCA4 chr19 11118626 11118626 G A g.11118626G>A ENST00000344626.4 c.2050G>A p.Val684Met missense_variant benign Mahlavu Missense Mutation ZNF441 chr19 11891486 11891486 A G g.11891486A>G ENST00000357901.4 c.847A>G p.Lys283Glu missense_variant benign Mahlavu Missense Mutation ZNF564 chr19 12638170 12638170 C T g.12638170C>T ENST00000339282.7 c.752G>A p.Gly251Glu missense_variant benign Mahlavu Missense Mutation DCAF15 chr19 14067033 14067033 G A g.14067033G>A ENST00000254337.6 c.572G>A p.Gly191Asp missense_variant benign Mahlavu Missense Mutation DAZAP1 chr19 1429978 1429978 C G g.1429978C>G ENST00000233078.4 c.713C>G p.Pro238Arg missense_variant possibly damaging Mahlavu Missense Mutation ZNF333 chr19 14829385 14829385 C T g.14829385C>T ENST00000292530.6 c.1246C>T p.His416Tyr missense_variant probably damaging Mahlavu Missense Mutation AKAP8 chr19 15483703 15483703 C T g.15483703C>T ENST00000269701.2 c.820G>A p.Gly274Arg missense_variant possibly damaging Mahlavu Missense Mutation CYP4F11 chr19 16025182 16025182 G A g.16025182G>A ENST00000248041.8 c.1330C>T p.Arg444Cys missense_variant probably damaging Mahlavu Missense Mutation LPAR2 chr19 19735131 19735131 C A g.19735131C>A ENST00000407877.3 c.990G>T p.Gln330His missense_variant benign Mahlavu Missense Mutation ZNF66 chr19 20975399 20975399 T C g.20975399T>C ENST00000344519.8 c.85T>C p.Y29H missense_variant NA Mahlavu Missense Mutation ZNF85 chr19 21129170 21129170 G T g.21129170G>T ENST00000601284.1 c.294G>T p.Arg98Ser missense_variant NA Mahlavu Missense Mutation ZNF91 chr19 23543172 23543172 G A g.23543172G>A ENST00000300619.7 c.2609C>T p.T870M missense_variant probably damaging Mahlavu Missense Mutation FZR1 chr19 3533382 3533382 C A g.3533382C>A ENST00000395095.3 c.1333C>A p.Arg445Ser missense_variant probably damaging Mahlavu Missense Mutation GRAMD1A chr19 35512918 35512918 G A g.35512918G>A ENST00000317991.5 c.1817G>A p.Ser606Asn missense_variant benign Mahlavu Missense Mutation KMT2B chr19 36223659 36223659 G A g.36223659G>A ENST00000222270.7 c.6209G>A p.Ser2070Asn missense_variant probably damaging Mahlavu Missense Mutation KMT2B chr19 36223695 36223695 G C g.36223695G>C ENST00000222270.7 c.6245G>C p.Gly2082Ala missense_variant benign Mahlavu Missense Mutation PIP5K1C chr19 3646030 3646030 G C g.3646030G>C ENST00000335312.3 c.1287C>G p.Ser429Arg missense_variant benign Mahlavu Missense Mutation ZNF568 chr19 37441968 37441968 G T g.37441968G>T ENST00000333987.7 c.1913G>T p.Gly638Val missense_variant probably damaging Mahlavu Missense Mutation ZNF585B chr19 37681030 37681030 A G g.37681030A>G ENST00000527838.1 c.95T>C p.Val32Ala missense_variant probably damaging Mahlavu Missense Mutation SIPA1L3 chr19 38655389 38655389 G A g.38655389G>A ENST00000222345.6 c.4051G>A p.Ala1351Thr missense_variant benign Mahlavu Missense Mutation EID2B chr19 40023393 40023393 C A g.40023393C>A ENST00000326282.4 c.50G>T p.Ser17Ile missense_variant possibly damaging Mahlavu Missense Mutation ZNF546 chr19 40520743 40520743 G C g.40520743G>C ENST00000347077.4 c.1566G>C p.Glu522Asp missense_variant probably damaging Mahlavu Missense Mutation HIPK4 chr19 40889992 40889992 G T g.40889992G>T ENST00000291823.2 c.520C>A p.Pro174Thr missense_variant probably damaging Mahlavu Missense Mutation CEACAM4 chr19 42133313 42133313 C T g.42133313C>T ENST00000221954.2 c.19G>A p.Ala7Thr missense_variant benign Mahlavu Missense Mutation CD79A chr19 42383289 42383289 A G g.42383289A>G ENST00000221972.3 c.309A>G p.Ile103Met missense_variant benign Mahlavu Missense Mutation PRR19 chr19 42814251 42814251 A G g.42814251A>G ENST00000341747.3 c.515A>G p.Asp172Gly missense_variant possibly damaging Mahlavu Missense Mutation PSG6 chr19 43420517 43420517 T G g.43420517T>G ENST00000187910.2 c.187A>C p.Thr63Pro missense_variant benign Mahlavu Missense Mutation PSG5 chr19 43690551 43690551 G T g.43690551G>T ENST00000342951.6 c.7C>A p.Pro3Thr missense_variant benign Mahlavu Missense Mutation ZNF229 chr19 44934613 44934613 C T g.44934613C>T ENST00000588931.1 c.343G>A p.Glu115Lys missense_variant benign Mahlavu Missense Mutation CEACAM19 chr19 45179608 45179608 A T g.45179608A>T ENST00000358777.4 c.490A>T p.Ile164Phe missense_variant probably damaging Mahlavu Missense Mutation PVRL2 chr19 45391517 45391517 G C g.45391517G>C ENST00000252483.5 c.1498G>C p.Glu500Gln missense_variant probably damaging Mahlavu Missense Mutation ZNF296 chr19 45575433 45575433 G A g.45575433G>A ENST00000303809.2 c.854C>T p.Pro285Leu missense_variant benign Mahlavu Missense Mutation TRAPPC6A chr19 45668213 45668213 C G g.45668213C>G ENST00000592647.1 c.142G>C p.Ala48Pro missense_variant NA Mahlavu Missense Mutation CD3EAP chr19 45912491 45912491 A T g.45912491A>T ENST00000309424.3 c.1265A>T p.Lys422Met missense_variant possibly damaging Mahlavu Missense Mutation OPA3 chr19 46056786 46056786 C T g.46056786C>T ENST00000263275.4 c.526G>A p.Ala176Thr missense_variant benign Mahlavu Missense Mutation FEM1A chr19 4792485 4792485 G T g.4792485G>T ENST00000269856.3 c.619G>T p.Ala207Ser missense_variant probably damaging Mahlavu Missense Mutation NUP62 chr19 50411741 50411741 C A g.50411741C>A ENST00000352066.3 c.1324G>T p.Ala442Ser missense_variant benign Mahlavu Missense Mutation KLK4 chr19 51410281 51410281 T C g.51410281T>C ENST00000324041.1 c.674A>G p.Lys225Arg missense_variant benign Mahlavu Missense Mutation ZNF616 chr19 52618418 52618418 C T g.52618418C>T ENST00000600228.1 c.1999G>A p.Gly667Ser missense_variant probably damaging Mahlavu Missense Mutation NCR1 chr19 55424211 55424211 G A g.55424211G>A ENST00000291890.4 c.887G>A p.Arg296Lys missense_variant probably damaging Mahlavu Missense Mutation NLRP4 chr19 56388364 56388364 T C g.56388364T>C ENST00000301295.6 c.2528T>C p.Leu843Ser (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Missense Mutation ZFP28 chr19 57065074 57065074 C T g.57065074C>T ENST00000301318.3 c.920C>T p.Thr307Ile missense_variant benign Mahlavu Missense Mutation ZNF419 chr19 58005406 58005406 A T g.58005406A>T ENST00000221735.7 c.1481A>T p.His494Leu missense_variant benign Mahlavu Missense Mutation LPPR3 chr19 814513 814513 G C g.814513G>C ENST00000520876.3 c.752C>G p.Thr251Arg missense_variant probably damaging Mahlavu Missense Mutation MUC16 chr19 9027221 9027221 G A g.9027221G>A ENST00000397910.4 c.36665C>T p.Pro12222Leu missense_variant possibly damaging Mahlavu Missense Mutation MUC16 chr19 9070935 9070935 G A g.9070935G>A ENST00000397910.4 c.16511C>T p.Thr5504Ile missense_variant possibly damaging Mahlavu Missense Mutation SLC20A1 chr2 113417024 113417024 A C g.113417024A>C ENST00000272542.3 c.1292A>C p.Asp431Ala missense_variant benign Mahlavu Missense Mutation LPIN1 chr2 11911550 11911550 C T g.11911550C>T ENST00000256720.2 c.341C>T p.Ser114Leu missense_variant benign Mahlavu Missense Mutation NEB chr2 152404183 152404183 G A g.152404183G>A ENST00000172853.10 c.15124C>T p.Arg5042Cys missense_variant probably damaging Mahlavu Missense Mutation STAM2 chr2 152982814 152982814 G A g.152982814G>A ENST00000263904.4 c.1105C>T p.Pro369Ser missense_variant probably damaging Mahlavu Missense Mutation TANC1 chr2 159992780 159992780 T C g.159992780T>C ENST00000263635.6 c.335T>C p.Val112Ala missense_variant benign Mahlavu Missense Mutation FSIP2 chr2 186661644 186661644 A T g.186661644A>T ENST00000343098.5 c.10048A>T p.Asn3350Tyr missense_variant unknown Mahlavu Missense Mutation MYO1B chr2 192278844 192278844 G T g.192278844G>T ENST00000304164.4 c.2944G>T p.Ala982Ser missense_variant benign Mahlavu Missense Mutation NRP2 chr2 206610564 206610564 C T g.206610564C>T ENST00000272849.3 c.1736C>T p.Ser579Leu missense_variant probably damaging Mahlavu Missense Mutation ABCA12 chr2 215815625 215815625 C A g.215815625C>A ENST00000272895.7 c.6830G>T p.Ser2277Ile missense_variant probably damaging Mahlavu Missense Mutation TNP1 chr2 217724625 217724625 C A g.217724625C>A ENST00000236979.2 c.133G>T p.Asp45Tyr missense_variant probably damaging Mahlavu Missense Mutation PTPRN chr2 220167488 220167488 G A g.220167488G>A ENST00000295718.2 c.449C>T p.Ala150Val missense_variant benign Mahlavu Missense Mutation FARSB chr2 223513495 223513495 T A g.223513495T>A ENST00000281828.6 c.78A>T p.Glu26Asp missense_variant benign Mahlavu Missense Mutation SP100 chr2 231404025 231404025 G A g.231404025G>A ENST00000340126.4 c.2138G>A p.Arg713Gln missense_variant benign Mahlavu Missense Mutation CHRNG chr2 233407762 233407762 G A g.233407762G>A ENST00000389494.3 c.775G>A p.Ala259Thr missense_variant possibly damaging Mahlavu Missense Mutation DGKD chr2 234358771 234358771 C T g.234358771C>T ENST00000264057.2 c.2032C>T p.Arg678Cys missense_variant possibly damaging Mahlavu Missense Mutation HJURP chr2 234749522 234749522 C A g.234749522C>A ENST00000411486.2 c.1904G>T p.Gly635Val missense_variant possibly damaging Mahlavu Missense Mutation HES6 chr2 239147803 239147803 A C g.239147803A>C ENST00000272937.5 c.340T>G p.Cys114Gly missense_variant probably damaging Mahlavu Missense Mutation SNED1 chr2 241987798 241987798 C T g.241987798C>T ENST00000310397.8 c.1340C>T p.Ala447Val missense_variant probably damaging Mahlavu Missense Mutation NCOA1 chr2 24933866 24933866 G A g.24933866G>A ENST00000288599.5 c.2485G>A p.Gly829Ser missense_variant benign Mahlavu Missense Mutation CGREF1 chr2 27323394 27323394 T C g.27323394T>C ENST00000452318.2 c.172A>G p.Ile58Val missense_variant benign Mahlavu Missense Mutation SLC5A6 chr2 27430202 27430202 T C g.27430202T>C ENST00000310574.3 c.317A>G p.Tyr106Cys missense_variant probably damaging Mahlavu Missense Mutation LBH chr2 30454612 30454612 T C g.30454612T>C ENST00000395323.3 c.8T>C p.Ile3Thr missense_variant benign Mahlavu Missense Mutation XDH chr2 31598325 31598325 C T g.31598325C>T ENST00000379416.3 c.1523G>A p.Arg508Gln missense_variant probably damaging Mahlavu Missense Mutation FEZ2 chr2 36787962 36787962 C T g.36787962C>T ENST00000379245.4 c.950G>A p.Arg317His missense_variant probably damaging Mahlavu Missense Mutation HEATR5B chr2 37234305 37234305 T C g.37234305T>C ENST00000233099.5 c.4665A>G p.Ile1555Met missense_variant benign Mahlavu Missense Mutation APLF chr2 68729971 68729971 G A g.68729971G>A ENST00000303795.4 c.277G>A p.Val93Ile missense_variant benign Mahlavu Missense Mutation ANXA4 chr2 70052624 70052624 G T g.70052624G>T ENST00000394295.4 c.943G>T p.Val315Phe missense_variant benign Mahlavu Missense Mutation CLEC4F chr2 71036914 71036914 G A g.71036914G>A ENST00000272367.2 c.1615C>T p.Arg539Cys missense_variant benign Mahlavu Missense Mutation TPRKB chr2 73959409 73959409 C T g.73959409C>T ENST00000272424.5 c.145G>A p.Val49Ile missense_variant benign Mahlavu Missense Mutation BOLA3 chr2 74372387 74372387 T G g.74372387T>G ENST00000295326.4 c.98A>C p.Glu33Ala missense_variant probably damaging Mahlavu Missense Mutation KIDINS220 chr2 8873708 8873708 G A g.8873708G>A ENST00000256707.3 c.3919C>T p.Arg1307Cys missense_variant benign Mahlavu Missense Mutation PROM2 chr2 95950769 95950769 G C g.95950769G>C ENST00000317620.9 c.1781G>C p.Ser594Thr missense_variant benign Mahlavu Missense Mutation BTBD3 chr20 11871510 11871510 G T g.11871510G>T NM_181443.3 c.95G>T p.Trp32Leu missense_variant NA Mahlavu Missense Mutation AHCY chr20 32878698 32878698 C A g.32878698C>A ENST00000217426.2 c.605G>T p.Gly202Val missense_variant probably damaging Mahlavu Missense Mutation SOGA1 chr20 35433226 35433226 C T g.35433226C>T ENST00000279034.6 c.2285G>A p.Arg762His missense_variant possibly damaging Mahlavu Missense Mutation SMOX chr20 4162762 4162762 C A g.4162762C>A ENST00000278795.3 c.636C>A p.His212Gln missense_variant possibly damaging Mahlavu Missense Mutation IFT52 chr20 42223403 42223403 A C g.42223403A>C ENST00000373030.3 c.65A>C p.Asn22Thr missense_variant benign Mahlavu Missense Mutation PREX1 chr20 47258783 47258783 T C g.47258783T>C ENST00000371941.3 c.3698A>G p.Asn1233Ser missense_variant benign Mahlavu Missense Mutation PTGIS chr20 48156191 48156191 G A g.48156191G>A ENST00000244043.4 c.589C>T p.Arg197Cys missense_variant possibly damaging Mahlavu Missense Mutation PCK1 chr20 56138710 56138710 G A g.56138710G>A ENST00000319441.4 c.888G>A p.Met296Ile missense_variant benign Mahlavu Missense Mutation ZGPAT chr20 62366891 62366891 G A g.62366891G>A ENST00000328969.5 c.1432G>A p.Glu478Lys missense_variant benign Mahlavu Missense Mutation SLC2A4RG chr20 62373701 62373701 G T g.62373701G>T ENST00000266077.2 c.693G>T p.Glu231Asp missense_variant benign Mahlavu Missense Mutation N6AMT1 chr21 30248798 30248798 A G g.30248798A>G ENST00000303775.5 c.554T>C p.Ile185Thr missense_variant benign Mahlavu Missense Mutation LTN1 chr21 30365156 30365156 T C g.30365156T>C ENST00000389194.2 c.109A>G p.Ser37Gly missense_variant NA Mahlavu Missense Mutation KRTAP26-1 chr21 31692318 31692318 G T g.31692318G>T ENST00000360542.3 c.36C>A p.Asn12Lys missense_variant benign Mahlavu Missense Mutation C21orf59 chr21 33974670 33974670 T C g.33974670T>C ENST00000290155.3 c.674A>G p.Gln225Arg missense_variant possibly damaging Mahlavu Missense Mutation CHAF1B chr21 37785306 37785306 G A g.37785306G>A ENST00000314103.5 c.1186G>A p.Asp396Asn missense_variant benign Mahlavu Missense Mutation TTC3 chr21 38504998 38504998 A C g.38504998A>C ENST00000354749.2 c.1375A>C p.Thr459Pro missense_variant possibly damaging Mahlavu Missense Mutation UBASH3A chr21 43846875 43846875 C G g.43846875C>G ENST00000319294.6 c.1116C>G p.Ser372Arg missense_variant possibly damaging Mahlavu Missense Mutation AP001631.10 chr21 44579834 44579834 G A g.44579834G>A ENST00000433840.1 c.208C>T p.P70S missense_variant NA Mahlavu Missense Mutation RRP1B chr21 45113229 45113229 C G g.45113229C>G ENST00000340648.4 c.2242C>G p.Pro748Ala missense_variant benign Mahlavu Missense Mutation KRTAP10-2 chr21 45970854 45970854 C T g.45970854C>T ENST00000391621.1 c.488G>A p.Cys163Tyr missense_variant probably damaging Mahlavu Missense Mutation DIP2A chr21 47879076 47879076 C T g.47879076C>T ENST00000318711.7 c.32C>T p.Ala11Val missense_variant benign Mahlavu Missense Mutation BCL2L13 chr22 18210130 18210130 G A g.18210130G>A ENST00000317582.5 c.1288G>A p.Glu430Lys missense_variant possibly damaging Mahlavu Missense Mutation ZNF280B chr22 22842558 22842558 A G g.22842558A>G ENST00000360412.2 c.1166T>C p.Leu389Ser missense_variant probably damaging Mahlavu Missense Mutation NF2 chr22 30000002 30000002 C G g.30000002C>G ENST00000334961.7 c.15C>G p.Ile5Met missense_variant possibly damaging Mahlavu Missense Mutation PES1 chr22 30975789 30975789 C T g.30975789C>T ENST00000354694.7 c.1303G>A p.Val435Ile missense_variant benign Mahlavu Missense Mutation SSTR3 chr22 37603254 37603254 C T g.37603254C>T ENST00000328544.3 c.589G>A p.Glu197Lys missense_variant probably damaging Mahlavu Missense Mutation LNP1 chr3 100174649 100174649 A G g.100174649A>G ENST00000383693.3 c.416A>G p.Glu139Gly missense_variant probably damaging Mahlavu Missense Mutation VGLL4 chr3 11643410 11643410 T C g.11643410T>C ENST00000430365.2 c.169A>G p.Ile57Val missense_variant benign Mahlavu Missense Mutation GOLGB1 chr3 121414165 121414165 C A g.121414165C>A ENST00000340645.5 c.5190G>T p.Arg1730Ser missense_variant benign Mahlavu Missense Mutation UBA5 chr3 132395323 132395323 T G g.132395323T>G ENST00000356232.4 c.1168T>G p.Ser390Ala missense_variant benign Mahlavu Missense Mutation ESYT3 chr3 138183298 138183298 C T g.138183298C>T ENST00000389567.4 c.1027C>T p.His343Tyr missense_variant benign Mahlavu Missense Mutation FOXL2 chr3 138665260 138665260 A G g.138665260A>G ENST00000330315.3 c.305T>C p.Ile102Thr missense_variant probably damaging Mahlavu Missense Mutation CNTN6 chr3 1445073 1445073 C A g.1445073C>A ENST00000350110.2 c.3058C>A p.His1020Asn missense_variant benign Mahlavu Missense Mutation HACL1 chr3 15624419 15624419 C T g.15624419C>T ENST00000321169.5 c.632G>A p.Arg211Lys missense_variant benign Mahlavu Missense Mutation ZBBX chr3 167000149 167000149 C T g.167000149C>T ENST00000392766.2 c.2014G>A p.Glu672Lys missense_variant possibly damaging Mahlavu Missense Mutation SAMD7 chr3 169639021 169639021 G T g.169639021G>T ENST00000335556.3 c.106G>T p.Val36Leu missense_variant benign Mahlavu Missense Mutation ATP13A4 chr3 193171948 193171948 C T g.193171948C>T ENST00000342695.4 c.1969G>A p.Val657Ile missense_variant probably damaging Mahlavu Missense Mutation ITGA9 chr3 37544687 37544687 G T g.37544687G>T ENST00000264741.5 c.631G>T p.Ala211Ser missense_variant probably damaging Mahlavu Missense Mutation SCN10A chr3 38793943 38793943 G A g.38793943G>A ENST00000449082.2 c.1522C>T p.Arg508Trp missense_variant probably damaging Mahlavu Missense Mutation LRRN1 chr3 3887622 3887622 A G g.3887622A>G ENST00000319331.3 c.1297A>G p.Asn433Asp missense_variant benign Mahlavu Missense Mutation SCN11A chr3 38938400 38938400 G A g.38938400G>A ENST00000302328.3 c.2339C>T p.Ala780Val missense_variant benign Mahlavu Missense Mutation GORASP1 chr3 39139905 39139905 T C g.39139905T>C ENST00000319283.3 c.1145A>G p.His382Arg missense_variant probably damaging Mahlavu Missense Mutation XIRP1 chr3 39225527 39225527 C T g.39225527C>T ENST00000340369.3 c.5410G>A p.Gly1804Arg missense_variant benign Mahlavu Missense Mutation XIRP1 chr3 39228274 39228274 G A g.39228274G>A ENST00000340369.3 c.2663C>T p.Thr888Ile missense_variant benign Mahlavu Missense Mutation CHL1 chr3 403395 403395 G T g.403395G>T ENST00000256509.2 c.1320G>T p.Leu440Phe missense_variant probably damaging Mahlavu Missense Mutation RPL14 chr3 40503529 40503529 G A g.40503529G>A ENST00000338970.6 c.454G>A p.Ala152Thr missense_variant benign Mahlavu Missense Mutation CHL1 chr3 423879 423879 G A g.423879G>A ENST00000256509.2 c.1894G>A p.Glu632Lys missense_variant benign Mahlavu Missense Mutation CCR1 chr3 46244937 46244937 C T g.46244937C>T ENST00000296140.3 c.868G>A p.Ala290Thr missense_variant probably damaging Mahlavu Missense Mutation PRSS42 chr3 46875491 46875491 C A g.46875491C>A ENST00000429665.1 c.95G>T p.Arg32Leu missense_variant benign Mahlavu Missense Mutation ARL8B chr3 5220378 5220378 T G g.5220378T>G ENST00000256496.3 c.541T>G p.Ser181Ala missense_variant benign Mahlavu Missense Mutation EDEM1 chr3 5236911 5236911 A G g.5236911A>G ENST00000256497.4 c.527A>G p.Asn176Ser missense_variant probably damaging Mahlavu Missense Mutation ATXN7 chr3 63976445 63976445 G A g.63976445G>A ENST00000295900.6 c.1592G>A p.Arg531Lys missense_variant probably damaging Mahlavu Missense Mutation CNTN3 chr3 74418438 74418438 T C g.74418438T>C ENST00000263665.6 c.848A>G p.Glu283Gly missense_variant probably damaging Mahlavu Missense Mutation EPHA3 chr3 89521636 89521636 C A g.89521636C>A ENST00000336596.2 c.2713C>A p.Gln905Lys missense_variant benign Mahlavu Missense Mutation TTLL3 chr3 9860542 9860542 A G g.9860542A>G ENST00000426895.4 c.896A>G p.Lys299Arg missense_variant possibly damaging Mahlavu Missense Mutation CIDEC chr3 9911717 9911717 C T g.9911717C>T ENST00000336832.2 c.403G>A p.Ala135Thr missense_variant benign Mahlavu Missense Mutation ADH1A chr4 100201328 100201328 G A g.100201328G>A ENST00000209668.2 c.937C>T p.Arg313Cys missense_variant damaging Mahlavu Missense Mutation TRAM1L1 chr4 118005853 118005853 A C g.118005853A>C ENST00000310754.4 c.697T>G p.Ser233Ala missense_variant benign Mahlavu Missense Mutation BOD1L1 chr4 13598754 13598754 T G g.13598754T>G ENST00000040738.5 c.7993A>C p.Lys2665Gln missense_variant benign Mahlavu Missense Mutation FNIP2 chr4 159750348 159750348 C T g.159750348C>T ENST00000264433.6 c.352C>T p.His118Tyr missense_variant benign Mahlavu Missense Mutation TRIM60 chr4 165961673 165961673 C A g.165961673C>A ENST00000341062.5 c.449C>A p.Pro150His missense_variant benign Mahlavu Missense Mutation QDPR chr4 17513629 17513629 C G g.17513629C>G ENST00000281243.5 c.49G>C p.Gly17Arg missense_variant probably damaging Mahlavu Missense Mutation FAM184B chr4 17711094 17711094 C A g.17711094C>A ENST00000265018.3 c.315G>T p.Glu105Asp missense_variant probably damaging Mahlavu Missense Mutation FAT1 chr4 187510072 187510072 G A g.187510072G>A ENST00000441802.2 c.13441C>T p.Arg4481Trp missense_variant benign Mahlavu Missense Mutation SEL1L3 chr4 25750145 25750145 T G g.25750145T>G ENST00000399878.3 c.3301A>C p.Thr1101Pro missense_variant benign Mahlavu Missense Mutation PCDH7 chr4 31144386 31144386 A G g.31144386A>G ENST00000543491.1 c.3683A>G p.Asn1228Ser missense_variant benign Mahlavu Missense Mutation NSUN7 chr4 40809103 40809103 T G g.40809103T>G ENST00000381782.2 c.1426T>G p.Cys476Gly missense_variant possibly damaging Mahlavu Missense Mutation OTOP1 chr4 4199549 4199549 G A g.4199549G>A ENST00000296358.4 c.1012C>T p.Arg338Cys missense_variant benign Mahlavu Missense Mutation NMU chr4 56465326 56465326 G T g.56465326G>T ENST00000264218.3 c.512C>A p.Ala171Glu missense_variant benign Mahlavu Missense Mutation CABS1 chr4 71201360 71201360 G A g.71201360G>A ENST00000273936.5 c.604G>A p.Asp202Asn missense_variant benign Mahlavu Missense Mutation RUFY3 chr4 71659549 71659549 G A g.71659549G>A ENST00000381006.3 c.1385G>A p.Arg462Gln missense_variant probably damaging Mahlavu Missense Mutation AFM chr4 74361127 74361127 C T g.74361127C>T ENST00000226355.3 c.1169C>T p.Pro390Leu missense_variant probably damaging Mahlavu Missense Mutation CXCL9 chr4 76924788 76924788 C T g.76924788C>T ENST00000264888.5 c.341G>A p.Arg114Gln missense_variant benign Mahlavu Missense Mutation STBD1 chr4 77230866 77230866 G C g.77230866G>C ENST00000237642.6 c.790G>C p.Val264Leu missense_variant probably damaging Mahlavu Missense Mutation SEC31A chr4 83784496 83784496 T A g.83784496T>A ENST00000311785.7 c.1484A>T p.Tyr495Phe missense_variant benign Mahlavu Missense Mutation SEC31A chr4 83788372 83788372 C T g.83788372C>T ENST00000311785.7 c.980G>A p.Arg327His missense_variant benign Mahlavu Missense Mutation NKD2 chr5 1038109 1038109 C T g.1038109C>T ENST00000296849.5 c.977C>T p.Pro326Leu missense_variant benign Mahlavu Missense Mutation EPB41L4A-AS2 chr5 111755681 111755681 C A g.111755681C>A ENST00000600409.1 c.387C>A p.S129R missense_variant benign Mahlavu Missense Mutation DMXL1 chr5 118483122 118483122 T A g.118483122T>A ENST00000311085.8 c.2868T>A p.His956Gln missense_variant benign Mahlavu Missense Mutation ZNF608 chr5 124080113 124080113 C A g.124080113C>A ENST00000306315.5 c.570G>T p.Glu190Asp missense_variant benign Mahlavu Missense Mutation PRRC1 chr5 126860478 126860478 T C g.126860478T>C ENST00000296666.8 c.359T>C p.Leu120Pro missense_variant benign Mahlavu Missense Mutation RAD50 chr5 131953890 131953890 G A g.131953890G>A ENST00000265335.6 c.3293G>A p.Arg1098Gln missense_variant benign Mahlavu Missense Mutation PCDHA11 chr5 140250949 140250949 G A g.140250949G>A ENST00000398640.2 c.2261G>A p.Arg754Gln missense_variant benign Mahlavu Missense Mutation PCDHB3 chr5 140480442 140480442 G A g.140480442G>A ENST00000231130.2 c.209G>A p.Gly70Glu missense_variant benign Mahlavu Missense Mutation PCDHB7 chr5 140552941 140552941 T A g.140552941T>A ENST00000231137.3 c.525T>A p.Asn175Lys missense_variant probably damaging Mahlavu Missense Mutation PCDHB13 chr5 140594610 140594610 A T g.140594610A>T ENST00000341948.4 c.915A>T p.Lys305Asn missense_variant possibly damaging Mahlavu Missense Mutation PCDHB14 chr5 140603557 140603557 G T g.140603557G>T ENST00000239449.4 c.480G>T p.Leu160Phe missense_variant benign Mahlavu Missense Mutation SLC25A2 chr5 140683140 140683140 A T g.140683140A>T ENST00000239451.4 c.293T>A p.Met98Lys missense_variant benign Mahlavu Missense Mutation PCDHGB2 chr5 140740659 140740659 C G g.140740659C>G ENST00000522605.1 c.957C>G p.Ile319Met missense_variant benign Mahlavu Missense Mutation KIAA0141 chr5 141318199 141318199 A G g.141318199A>G ENST00000194118.4 c.1423A>G p.Thr475Ala missense_variant benign Mahlavu Missense Mutation PLEKHG4B chr5 143239 143239 G A g.143239G>A ENST00000283426.6 c.487G>A p.Val163Met missense_variant benign Mahlavu Missense Mutation SH3RF2 chr5 145317597 145317597 T C g.145317597T>C ENST00000359120.4 c.106T>C p.Cys36Arg missense_variant probably damaging Mahlavu Missense Mutation SPINK6 chr5 147594470 147594470 A G g.147594470A>G ENST00000325630.2 c.200A>G p.Lys67Arg (Splice) missense_variant,splice_region_variant benign Mahlavu Missense Mutation CYFIP2 chr5 156746830 156746830 C A g.156746830C>A ENST00000521420.1 c.1339C>A p.Q447K missense_variant benign Mahlavu Missense Mutation GABRB2 chr5 160753407 160753407 G A g.160753407G>A ENST00000274547.2 c.1159C>T p.Arg387Trp missense_variant benign Mahlavu Missense Mutation SLIT3 chr5 168114047 168114047 C T g.168114047C>T ENST00000404867.3 c.3251G>A p.Arg1084His missense_variant benign Mahlavu Missense Mutation SLC34A1 chr5 176824851 176824851 G A g.176824851G>A ENST00000324417.5 c.1484G>A p.Arg495His missense_variant probably damaging Mahlavu Missense Mutation CCDC127 chr5 205714 205714 C G g.205714C>G ENST00000296824.3 c.481G>C p.Glu161Gln missense_variant possibly damaging Mahlavu Missense Mutation PDZD2 chr5 32088055 32088055 C G g.32088055C>G ENST00000282493.3 c.4501C>G p.Pro1501Ala missense_variant possibly damaging Mahlavu Missense Mutation EGFLAM chr5 38458420 38458420 C A g.38458420C>A ENST00000354891.3 c.2719C>A p.Leu907Met missense_variant probably damaging Mahlavu Missense Mutation C6 chr5 41159233 41159233 C A g.41159233C>A ENST00000263413.3 c.1807G>T p.Gly603Trp missense_variant probably damaging Mahlavu Missense Mutation CCDC152 chr5 42797020 42797020 A G g.42797020A>G ENST00000361970.5 c.520A>G p.Lys174Glu missense_variant benign Mahlavu Missense Mutation ZNF131 chr5 43175141 43175141 A G g.43175141A>G ENST00000306938.4 c.1676A>G p.Glu559Gly missense_variant benign Mahlavu Missense Mutation PARP8 chr5 50117142 50117142 T A g.50117142T>A ENST00000281631.5 c.1764T>A p.Asn588Lys missense_variant benign Mahlavu Missense Mutation CEP72 chr5 619210 619210 G C g.619210G>C ENST00000264935.5 c.188G>C p.Arg63Pro missense_variant probably damaging Mahlavu Missense Mutation ANKRD34B chr5 79855114 79855114 A G g.79855114A>G ENST00000338682.3 c.725T>C p.Leu242Pro missense_variant benign Mahlavu Missense Mutation TTC37 chr5 94852866 94852866 G A g.94852866G>A ENST00000358746.2 c.2275C>T p.Leu759Phe missense_variant possibly damaging Mahlavu Missense Mutation PRDM13 chr6 100061877 100061877 C T g.100061877C>T ENST00000369215.4 c.1366C>T p.Pro456Ser missense_variant probably damaging Mahlavu Missense Mutation MCHR2 chr6 100403948 100403948 A C g.100403948A>C ENST00000281806.2 c.76T>G p.Tyr26Asp missense_variant benign Mahlavu Missense Mutation AIM1 chr6 106967167 106967167 A G g.106967167A>G ENST00000369066.3 c.860A>G p.His287Arg missense_variant possibly damaging Mahlavu Missense Mutation DDO chr6 110714437 110714437 C G g.110714437C>G ENST00000368924.3 c.651G>C p.Gln217His missense_variant possibly damaging Mahlavu Missense Mutation REV3L chr6 111699015 111699015 T C g.111699015T>C ENST00000358835.3 c.1486A>G p.Thr496Ala missense_variant benign Mahlavu Missense Mutation HDAC2 chr6 114277280 114277280 T C g.114277280T>C ENST00000519065.1 c.394A>G p.Met132Val missense_variant benign Mahlavu Missense Mutation SMPDL3A chr6 123124884 123124884 G T g.123124884G>T ENST00000368440.4 c.644G>T p.Gly215Val missense_variant possibly damaging Mahlavu Missense Mutation SOGA3 chr6 127837716 127837716 G T g.127837716G>T ENST00000368268.2 c.44C>A p.Ala15Glu missense_variant benign Mahlavu Missense Mutation HEBP2 chr6 138734158 138734158 T A g.138734158T>A ENST00000607197.1 c.561T>A p.Asn187Lys missense_variant possibly damaging Mahlavu Missense Mutation CD83 chr6 14131844 14131844 G A g.14131844G>A ENST00000379153.3 c.247G>A p.Asp83Asn missense_variant benign Mahlavu Missense Mutation PLEKHG1 chr6 151055106 151055106 G A g.151055106G>A ENST00000358517.2 c.289G>A p.Gly97Arg missense_variant benign Mahlavu Missense Mutation PLEKHG1 chr6 151153089 151153089 G A g.151153089G>A ENST00000358517.2 c.2842G>A p.Asp948Asn missense_variant possibly damaging Mahlavu Missense Mutation SYNE1 chr6 152614837 152614837 C A g.152614837C>A ENST00000265368.4 c.17898G>T p.Gln5966His missense_variant probably damaging Mahlavu Missense Mutation SYNE1 chr6 152737563 152737563 T G g.152737563T>G ENST00000265368.4 c.6009A>C p.Lys2003Asn missense_variant possibly damaging Mahlavu Missense Mutation RSPH3 chr6 159398601 159398601 C G g.159398601C>G ENST00000252655.1 c.1652G>C p.Arg551Thr missense_variant benign Mahlavu Missense Mutation SLC22A3 chr6 160769828 160769828 C T g.160769828C>T ENST00000275300.2 c.377C>T p.Pro126Leu missense_variant possibly damaging Mahlavu Missense Mutation DCDC2 chr6 24178569 24178569 C T g.24178569C>T ENST00000378454.3 c.1315G>A p.Gly439Arg missense_variant benign Mahlavu Missense Mutation HIST1H4D chr6 26189139 26189139 G A g.26189139G>A ENST00000340756.2 c.166C>T p.Arg56Cys missense_variant probably damaging Mahlavu Missense Mutation BTN2A1 chr6 26468277 26468277 G A g.26468277G>A ENST00000312541.5 c.1084G>A p.Val362Met missense_variant possibly damaging Mahlavu Missense Mutation POM121L2 chr6 27277407 27277407 A G g.27277407A>G ENST00000444565.1 c.2543T>C p.Ile848Thr missense_variant benign Mahlavu Missense Mutation OR5V1 chr6 29323741 29323741 C T g.29323741C>T ENST00000377154.1 c.232G>A p.Val78Ile missense_variant benign Mahlavu Missense Mutation MUC21 chr6 30954837 30954837 T G g.30954837T>G ENST00000376296.3 c.885T>G p.Ser295Arg missense_variant benign Mahlavu Missense Mutation CCHCR1 chr6 31112526 31112526 C T g.31112526C>T ENST00000376266.5 c.1838G>A p.Arg613Gln missense_variant probably damaging Mahlavu Missense Mutation TCF19 chr6 31129265 31129265 C A g.31129265C>A ENST00000376255.4 c.280C>A p.Leu94Met missense_variant possibly damaging Mahlavu Missense Mutation MICA chr6 31382844 31382844 G T g.31382844G>T NA NA NA NA NA Mahlavu Missense Mutation SLC44A4 chr6 31839148 31839148 C T g.31839148C>T ENST00000229729.6 c.644G>A p.Arg215Gln missense_variant possibly damaging Mahlavu Missense Mutation SKIV2L chr6 31927158 31927158 C T g.31927158C>T ENST00000375394.2 c.107C>T p.Pro36Leu missense_variant probably damaging Mahlavu Missense Mutation TNXB chr6 32020725 32020725 G A g.32020725G>A ENST00000375247.2 c.8831C>T p.Ala2944Val missense_variant probably damaging Mahlavu Missense Mutation VPS52 chr6 33239446 33239446 C T g.33239446C>T ENST00000445902.2 c.7G>A p.Ala3Thr missense_variant possibly damaging Mahlavu Missense Mutation RGL2 chr6 33263887 33263887 G A g.33263887G>A ENST00000497454.1 c.686C>T p.Pro229Leu missense_variant benign Mahlavu Missense Mutation TRERF1 chr6 42232536 42232536 C T g.42232536C>T ENST00000340840.2 c.1541G>A p.Cys514Tyr missense_variant probably damaging Mahlavu Missense Mutation CDYL chr6 4937954 4937954 A C g.4937954A>C ENST00000328908.5 c.1266A>C p.Lys422Asn missense_variant benign Mahlavu Missense Mutation COL21A1 chr6 55922600 55922600 C T g.55922600C>T ENST00000244728.5 c.2729G>A p.Gly910Glu missense_variant probably damaging Mahlavu Missense Mutation COL9A1 chr6 70951683 70951683 C A g.70951683C>A ENST00000357250.6 c.1982G>T p.Gly661Val missense_variant probably damaging Mahlavu Missense Mutation RIOK1 chr6 7405513 7405513 G A g.7405513G>A ENST00000379834.2 c.1128G>A p.Met376Ile missense_variant possibly damaging Mahlavu Missense Mutation BCKDHB chr6 80982860 80982860 C G g.80982860C>G ENST00000320393.6 c.960C>G p.Ile320Met missense_variant benign Mahlavu Missense Mutation SNAP91 chr6 84303335 84303335 C A g.84303335C>A ENST00000195649.6 c.1558G>T p.Ala520Ser missense_variant possibly damaging Mahlavu Missense Mutation MDN1 chr6 90428742 90428742 T C g.90428742T>C ENST00000369393.3 c.6065A>G p.Tyr2022Cys missense_variant benign Mahlavu Missense Mutation MDN1 chr6 90448125 90448125 C A g.90448125C>A ENST00000369393.3 c.4643G>T p.Ser1548Ile missense_variant benign Mahlavu Missense Mutation KLHL32 chr6 97561892 97561892 G T g.97561892G>T ENST00000369261.4 c.861G>T p.Gln287His missense_variant probably damaging Mahlavu Missense Mutation FBXL13 chr7 102524689 102524689 A G g.102524689A>G ENST00000313221.4 c.1079T>C p.Met360Thr missense_variant benign Mahlavu Missense Mutation BCAP29 chr7 107258861 107258861 G C g.107258861G>C ENST00000379119.2 c.858G>C p.Met286Ile missense_variant benign Mahlavu Missense Mutation CFTR chr7 117149194 117149194 G A g.117149194G>A ENST00000003084.6 c.271G>A p.Gly91Arg (Splice) missense_variant,splice_region_variant possibly damaging Mahlavu Missense Mutation CEP41 chr7 130051008 130051008 C G g.130051008C>G ENST00000223208.5 c.232G>C p.Asp78His missense_variant possibly damaging Mahlavu Missense Mutation LRGUK chr7 133881825 133881825 G A g.133881825G>A ENST00000285928.2 c.1513G>A p.Gly505Ser missense_variant probably damaging Mahlavu Missense Mutation SLC35B4 chr7 133979799 133979799 G C g.133979799G>C ENST00000378509.4 c.782C>G p.Thr261Ser missense_variant probably damaging Mahlavu Missense Mutation AKR1B15 chr7 134260620 134260620 C G g.134260620C>G ENST00000457545.2 c.684C>G p.Cys228Trp missense_variant probably damaging Mahlavu Missense Mutation LUC7L2 chr7 139097311 139097311 G T g.139097311G>T NM_016019.4 c.794G>T p.Ser265Ile missense_variant probably damaging Mahlavu Missense Mutation EPHB6 chr7 142562205 142562205 C T g.142562205C>T ENST00000392957.2 c.647C>T p.Thr216Met missense_variant probably damaging Mahlavu Missense Mutation NOM1 chr7 156761827 156761827 G A g.156761827G>A ENST00000275820.3 c.2345G>A p.Arg782Gln missense_variant probably damaging Mahlavu Missense Mutation C7orf25 chr7 42949947 42949947 C T g.42949947C>T ENST00000350427.4 c.553G>A p.Gly185Ser missense_variant probably damaging Mahlavu Missense Mutation FBXL18 chr7 5540380 5540380 C A g.5540380C>A ENST00000382368.3 c.1520G>T p.Arg507Leu missense_variant probably damaging Mahlavu Missense Mutation SRCRB4D chr7 76019650 76019650 C G g.76019650C>G ENST00000275560.3 c.1454G>C p.Arg485Pro missense_variant probably damaging Mahlavu Missense Mutation GSAP chr7 76958692 76958692 C G g.76958692C>G ENST00000257626.7 c.1691G>C p.Arg564Thr missense_variant probably damaging Mahlavu Missense Mutation GSAP chr7 77016690 77016690 T C g.77016690T>C ENST00000257626.7 c.443A>G p.Tyr148Cys missense_variant benign Mahlavu Missense Mutation SEMA3A chr7 83591117 83591117 C T g.83591117C>T ENST00000265362.4 c.1886G>A p.Arg629Lys missense_variant benign Mahlavu Missense Mutation SEMA3A chr7 83689801 83689801 A C g.83689801A>C ENST00000265362.4 c.527T>G p.Leu176Arg missense_variant benign Mahlavu Missense Mutation C7orf43 chr7 99754470 99754470 C G g.99754470C>G ENST00000316937.3 c.991G>C p.Glu331Gln (Splice) missense_variant,splice_region_variant possibly damaging Mahlavu Missense Mutation STAG3 chr7 99780385 99780385 C A g.99780385C>A ENST00000317296.5 c.259C>A p.Arg87Ser missense_variant benign Mahlavu Missense Mutation SPAG1 chr8 101243391 101243391 A C g.101243391A>C ENST00000251809.3 c.1863A>C p.Lys621Asn missense_variant benign Mahlavu Missense Mutation DERL1 chr8 124031478 124031478 T C g.124031478T>C ENST00000259512.4 c.574A>G p.Met192Val missense_variant benign Mahlavu Missense Mutation DLGAP2 chr8 1616659 1616659 G A g.1616659G>A ENST00000421627.2 c.1735G>A p.Gly579Ser missense_variant benign Mahlavu Missense Mutation SLC39A14 chr8 22267591 22267591 C T g.22267591C>T ENST00000359741.5 c.590C>T p.Thr197Met missense_variant damaging Mahlavu Missense Mutation CHMP7 chr8 23117834 23117834 G A g.23117834G>A ENST00000313219.7 c.1298G>A p.Gly433Glu (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Missense Mutation BRF2 chr8 37702308 37702308 C G g.37702308C>G ENST00000220659.6 c.960G>C p.Glu320Asp missense_variant benign Mahlavu Missense Mutation MCMDC2 chr8 67803295 67803295 G C g.67803295G>C ENST00000313616.5 c.1269G>C p.Gln423His missense_variant benign Mahlavu Missense Mutation SULF1 chr8 70512980 70512980 G A g.70512980G>A ENST00000260128.4 c.877G>A p.Val293Met missense_variant benign Mahlavu Missense Mutation CNBD1 chr8 87951922 87951922 T C g.87951922T>C ENST00000518476.1 c.371T>C p.Leu124Ser missense_variant possibly damaging Mahlavu Missense Mutation CTNNAL1 chr9 111761469 111761469 C T g.111761469C>T ENST00000325551.4 c.209G>A p.Arg70His missense_variant probably damaging Mahlavu Missense Mutation PTPN3 chr9 112166866 112166866 G C g.112166866G>C ENST00000374541.2 c.1815C>G p.Phe318Leu missense_variant benign Mahlavu Missense Mutation AMBP chr9 116836386 116836386 A C g.116836386A>C ENST00000265132.3 c.384T>G p.Asp128Glu missense_variant benign Mahlavu Missense Mutation COL27A1 chr9 117044794 117044794 C G g.117044794C>G ENST00000356083.3 c.3829C>G p.Pro1277Ala missense_variant benign Mahlavu Missense Mutation TLR4 chr9 120476382 120476382 T C g.120476382T>C ENST00000355622.6 c.1976T>C p.Met659Thr missense_variant possibly damaging Mahlavu Missense Mutation SH2D3C chr9 130502095 130502095 G C g.130502095G>C ENST00000314830.8 c.2273C>G p.Ala758Gly missense_variant possibly damaging Mahlavu Missense Mutation ABL1 chr9 133730343 133730343 G C g.133730343G>C ENST00000318560.5 c.409G>C p.Ala137Pro missense_variant probably damaging Mahlavu Missense Mutation GLT6D1 chr9 138516420 138516420 G T g.138516420G>T ENST00000371763.1 c.354C>A p.Phe118Leu missense_variant benign Mahlavu Missense Mutation FREM1 chr9 14788924 14788924 C A g.14788924C>A ENST00000380880.3 c.4170G>T p.Met1390Ile missense_variant benign Mahlavu Missense Mutation FREM1 chr9 14792830 14792830 T A g.14792830T>A ENST00000380875.3 c.3892A>T p.Ile1298Phe missense_variant,NMD_transcript_variant possibly damaging Mahlavu Missense Mutation BNC2 chr9 16419126 16419126 T C g.16419126T>C ENST00000380672.4 c.3161A>G p.Tyr1054Cys missense_variant probably damaging Mahlavu Missense Mutation CNTLN chr9 17416033 17416033 G T g.17416033G>T ENST00000262360.5 c.2960G>T p.Arg987Leu missense_variant probably damaging Mahlavu Missense Mutation KIAA0020 chr9 2837218 2837218 T C g.2837218T>C ENST00000397885.2 c.266A>G p.Asn89Ser missense_variant benign Mahlavu Missense Mutation DCAF12 chr9 34098441 34098441 C A g.34098441C>A ENST00000361264.4 c.676G>T p.Val226Leu missense_variant benign Mahlavu Missense Mutation SHB chr9 38068515 38068515 G A g.38068515G>A ENST00000377700.4 c.128C>T p.Ala43Val missense_variant benign Mahlavu Missense Mutation BARX1 chr9 96715329 96715329 G T g.96715329G>T ENST00000253968.6 c.364C>A p.Gln122Lys missense_variant benign Mahlavu Missense Mutation GPRASP1 chrX 101909657 101909657 G T g.101909657G>T ENST00000361600.5 c.816G>T p.Trp272Cys missense_variant probably damaging Mahlavu Missense Mutation FRMPD3 chrX 106796080 106796080 C A g.106796080C>A ENST00000276185.4 c.665C>A p.Ala222Asp missense_variant damaging Mahlavu Missense Mutation RGAG1 chrX 109695034 109695034 G A g.109695034G>A ENST00000465301.2 c.1189G>A p.Val397Met missense_variant benign Mahlavu Missense Mutation DOCK11 chrX 117724257 117724257 T C g.117724257T>C ENST00000276202.7 c.2131T>C p.Tyr711His missense_variant probably damaging Mahlavu Missense Mutation DCAF12L2 chrX 125299624 125299624 C A g.125299624C>A ENST00000360028.2 c.284G>T p.Gly95Val missense_variant probably damaging Mahlavu Missense Mutation CXorf64 chrX 125954728 125954728 G T g.125954728G>T ENST00000371125.3 c.107G>T p.Cys36Phe missense_variant benign Mahlavu Missense Mutation OR13H1 chrX 130678321 130678321 C G g.130678321C>G ENST00000338616.3 c.274C>G p.Leu92Val missense_variant possibly damaging Mahlavu Missense Mutation HS6ST2 chrX 132090855 132090855 C A g.132090855C>A ENST00000370836.2 c.928G>T p.Ala310Ser missense_variant benign Mahlavu Missense Mutation MAGEA8 chrX 149013224 149013224 A T g.149013224A>T ENST00000286482.1 c.178A>T p.Ser60Cys missense_variant probably damaging Mahlavu Missense Mutation MAGEA6 chrX 151869728 151869728 G A g.151869728G>A ENST00000329342.5 c.418G>A p.Val140Ile missense_variant benign Mahlavu Missense Mutation CSAG1 chrX 151908886 151908886 C T g.151908886C>T ENST00000370287.3 c.125C>T p.Ala42Val missense_variant possibly damaging Mahlavu Missense Mutation IRAK1 chrX 153278656 153278656 C T g.153278656C>T ENST00000369980.3 c.1768G>A p.Glu590Lys missense_variant probably damaging Mahlavu Missense Mutation PHEX chrX 22051227 22051227 C T g.22051227C>T ENST00000379374.4 c.104C>T p.Thr35Met missense_variant possibly damaging Mahlavu Missense Mutation DMD chrX 32613904 32613904 G T g.32613904G>T ENST00000357033.4 c.1572C>A p.His524Gln missense_variant benign Mahlavu Missense Mutation FAM47C chrX 37027005 37027005 A C g.37027005A>C ENST00000358047.3 c.522A>C p.Glu174Asp missense_variant possibly damaging Mahlavu Missense Mutation FAM47C chrX 37028771 37028771 G T g.37028771G>T ENST00000358047.3 c.2288G>T p.Arg763Leu missense_variant benign Mahlavu Missense Mutation CXorf65 chrX 70325963 70325963 G A g.70325963G>A ENST00000374251.5 c.137C>T p.Thr46Met missense_variant benign Mahlavu Missense Mutation MED12 chrX 70357604 70357604 G A g.70357604G>A ENST00000374080.3 c.5855G>A p.Gly1952Glu missense_variant possibly damaging PLC/PRF5 Missense Mutation KCNA10 chr1 111059991 111059991 C A g.111059991C>A ENST00000369771.2 c.1419G>T p.Lys473Asn missense_variant possibly damaging PLC/PRF5 Missense Mutation TTLL10 chr1 1132937 1132937 G C g.1132937G>C ENST00000379289.1 c.1732G>C p.Gly578Arg missense_variant benign PLC/PRF5 Missense Mutation PTCHD2 chr1 11589913 11589913 C A g.11589913C>A ENST00000294484.6 c.2999C>A p.Ala1000Glu missense_variant probably damaging PLC/PRF5 Missense Mutation CGN chr1 151497337 151497337 G T g.151497337G>T ENST00000271636.7 c.1589G>T p.Arg530Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TUFT1 chr1 151537026 151537026 G T g.151537026G>T ENST00000368849.3 c.350G>T p.Arg117Leu missense_variant probably damaging PLC/PRF5 Missense Mutation FLG chr1 152286256 152286256 G T g.152286256G>T ENST00000368799.1 c.1106C>A p.Thr369Asn missense_variant probably damaging PLC/PRF5 Missense Mutation TRIM46 chr1 155149501 155149501 C A g.155149501C>A ENST00000334634.4 c.763C>A p.His255Asn missense_variant probably damaging PLC/PRF5 Missense Mutation IQGAP3 chr1 156536317 156536317 C A g.156536317C>A ENST00000361170.2 c.147G>T p.Lys49Asn missense_variant benign PLC/PRF5 Missense Mutation TTC24 chr1 156555756 156555756 C T g.156555756C>T ENST00000368236.3 c.1586C>T p.Ala529Val missense_variant benign PLC/PRF5 Missense Mutation INSRR chr1 156810796 156810796 G T g.156810796G>T ENST00000368195.3 c.3763C>A p.Arg1255Ser missense_variant benign PLC/PRF5 Missense Mutation KIRREL chr1 158045942 158045942 C T g.158045942C>T ENST00000359209.6 c.92C>T p.Thr31Met missense_variant possibly damaging PLC/PRF5 Missense Mutation KIRREL chr1 158063206 158063206 G A g.158063206G>A ENST00000359209.6 c.1549G>A p.Val517Ile missense_variant benign PLC/PRF5 Missense Mutation CD1C chr1 158262151 158262151 G T g.158262151G>T ENST00000368170.3 c.606G>T p.Arg202Ser missense_variant probably damaging PLC/PRF5 Missense Mutation CD1E chr1 158324221 158324221 G A g.158324221G>A ENST00000368155.3 c.113G>A p.Arg38His missense_variant benign PLC/PRF5 Missense Mutation OR6Y1 chr1 158517145 158517145 T A g.158517145T>A ENST00000302617.3 c.751A>T p.Thr251Ser missense_variant benign PLC/PRF5 Missense Mutation OR6Y1 chr1 158517490 158517490 G A g.158517490G>A ENST00000302617.3 c.406C>T p.Arg136Cys missense_variant probably damaging PLC/PRF5 Missense Mutation OR6P1 chr1 158532502 158532502 T G g.158532502T>G ENST00000334632.1 c.893A>C p.Lys298Thr missense_variant probably damaging PLC/PRF5 Missense Mutation OR10X1 chr1 158549273 158549273 G T g.158549273G>T ENST00000368150.1 c.417C>A p.Phe139Leu missense_variant probably damaging PLC/PRF5 Missense Mutation SPTA1 chr1 158612244 158612244 A T g.158612244A>T ENST00000368147.4 c.4694T>A p.Leu1565Gln missense_variant probably damaging PLC/PRF5 Missense Mutation SPTA1 chr1 158612618 158612618 C G g.158612618C>G ENST00000368147.4 c.4591G>C p.Ala1531Pro missense_variant benign PLC/PRF5 Missense Mutation SLAMF8 chr1 159799731 159799731 G A g.159799731G>A ENST00000289707.5 c.116G>A p.Arg39His missense_variant benign PLC/PRF5 Missense Mutation ATP1A2 chr1 160097429 160097429 G A g.160097429G>A ENST00000361216.3 c.836G>A p.Arg279Gln missense_variant benign PLC/PRF5 Missense Mutation ARHGAP30 chr1 161026288 161026288 G A g.161026288G>A ENST00000368013.3 c.235C>T p.Arg79Cys missense_variant probably damaging PLC/PRF5 Missense Mutation ADAMTS4 chr1 161163477 161163477 C T g.161163477C>T ENST00000367996.5 c.1688G>A p.Arg563His missense_variant possibly damaging PLC/PRF5 Missense Mutation ADAMTS4 chr1 161163805 161163805 C A g.161163805C>A ENST00000367996.5 c.1468G>T p.Ala490Ser missense_variant probably damaging PLC/PRF5 Missense Mutation MROH9 chr1 171031327 171031327 T C g.171031327T>C ENST00000367759.4 c.2336T>C p.Met779Thr missense_variant probably damaging PLC/PRF5 Missense Mutation SUCO chr1 172502526 172502526 G T g.172502526G>T ENST00000367723.4 c.536G>T p.Gly179Val missense_variant NA PLC/PRF5 Missense Mutation PADI2 chr1 17413116 17413116 G T g.17413116G>T ENST00000375481.1 c.734C>A p.Ser245Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation TDRD5 chr1 179620090 179620090 G A g.179620090G>A ENST00000294848.8 c.1889G>A p.Gly630Glu missense_variant probably damaging PLC/PRF5 Missense Mutation IER5 chr1 181059011 181059011 G T g.181059011G>T ENST00000367577.4 c.973G>T p.Val325Leu missense_variant probably damaging PLC/PRF5 Missense Mutation CACNA1E chr1 181767792 181767792 C A g.181767792C>A ENST00000367570.1 c.6635C>A p.Ala2255Asp missense_variant probably damaging PLC/PRF5 Missense Mutation LAMC2 chr1 183206565 183206565 C T g.183206565C>T ENST00000264144.4 c.2680C>T p.Arg894Cys missense_variant probably damaging PLC/PRF5 Missense Mutation CALML6 chr1 1847940 1847940 G A g.1847940G>A ENST00000307786.3 c.139G>A p.Glu47Lys missense_variant probably damaging PLC/PRF5 Missense Mutation HMCN1 chr1 185984467 185984467 C A g.185984467C>A ENST00000271588.4 c.4807C>A p.Leu1603Ile missense_variant probably damaging PLC/PRF5 Missense Mutation HMCN1 chr1 186089238 186089238 G T g.186089238G>T ENST00000271588.4 c.12190G>T p.Ala4064Ser missense_variant probably damaging PLC/PRF5 Missense Mutation CDC73 chr1 193104675 193104675 G T g.193104675G>T ENST00000367435.3 c.379G>T p.Ala127Ser missense_variant benign PLC/PRF5 Missense Mutation ASPM chr1 197073048 197073048 A G g.197073048A>G ENST00000367409.4 c.5333T>C p.Ile1778Thr missense_variant benign PLC/PRF5 Missense Mutation CAMSAP2 chr1 200801404 200801404 G T g.200801404G>T ENST00000358823.2 c.722G>T p.Gly241Val missense_variant probably damaging PLC/PRF5 Missense Mutation C1orf106 chr1 200880598 200880598 C A g.200880598C>A ENST00000367342.4 c.1232C>A p.Ala411Glu missense_variant benign PLC/PRF5 Missense Mutation IGFN1 chr1 201176306 201176306 G T g.201176306G>T ENST00000335211.4 c.2285G>T p.Gly762Val missense_variant damaging PLC/PRF5 Missense Mutation PPP1R12B chr1 202318250 202318250 G T g.202318250G>T ENST00000336894.4 c.271G>T p.Gly91Cys missense_variant probably damaging PLC/PRF5 Missense Mutation PPP1R12B chr1 202407175 202407175 G C g.202407175G>C ENST00000480184.1 c.1481G>C p.Gly494Ala missense_variant damaging PLC/PRF5 Missense Mutation SYT2 chr1 202573713 202573713 G T g.202573713G>T ENST00000367267.1 c.215C>A p.Ala72Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation NFASC chr1 204924044 204924044 G T g.204924044G>T ENST00000338515.6 c.500G>T p.Gly167Val missense_variant probably damaging PLC/PRF5 Missense Mutation PM20D1 chr1 205817094 205817094 T C g.205817094T>C ENST00000367136.4 c.175A>G p.Ile59Val missense_variant benign PLC/PRF5 Missense Mutation PFKFB2 chr1 207252330 207252330 G A g.207252330G>A ENST00000367079.2 c.1382G>A p.Arg461His missense_variant benign PLC/PRF5 Missense Mutation HP1BP3 chr1 21071402 21071402 T C g.21071402T>C ENST00000312239.5 c.1550A>G p.Lys517Arg missense_variant probably damaging PLC/PRF5 Missense Mutation SLC30A10 chr1 220088956 220088956 G T g.220088956G>T ENST00000366926.3 c.1293C>A p.His431Gln missense_variant benign PLC/PRF5 Missense Mutation HSPG2 chr1 22211409 22211409 A G g.22211409A>G ENST00000374695.3 c.1358T>C p.V453A (Splice) missense_variant,splice_region_variant probably damaging PLC/PRF5 Missense Mutation MORN1 chr1 2268285 2268285 C A g.2268285C>A ENST00000378531.3 c.1041G>T p.Arg347Ser missense_variant benign PLC/PRF5 Missense Mutation MORN1 chr1 2268286 2268286 C A g.2268286C>A ENST00000378531.3 c.1040G>T p.Arg347Met missense_variant possibly damaging PLC/PRF5 Missense Mutation OBSCN chr1 228400443 228400443 C T g.228400443C>T ENST00000284548.11 c.959C>T p.Thr320Ile missense_variant probably damaging PLC/PRF5 Missense Mutation OBSCN chr1 228468357 228468357 T C g.228468357T>C ENST00000284548.11 c.8057T>C p.Leu2686Pro missense_variant probably damaging PLC/PRF5 Missense Mutation OBSCN chr1 228528465 228528465 C A g.228528465C>A ENST00000284548.11 c.17573C>A p.Ala5858Glu missense_variant probably damaging PLC/PRF5 Missense Mutation HIST3H3 chr1 228612812 228612812 A G g.228612812A>G ENST00000366696.1 c.215T>C p.Met72Thr missense_variant benign PLC/PRF5 Missense Mutation ABCB10 chr1 229678018 229678018 T G g.229678018T>G ENST00000344517.4 c.1022A>C p.Lys341Thr missense_variant benign PLC/PRF5 Missense Mutation URB2 chr1 229773407 229773407 A T g.229773407A>T ENST00000258243.2 c.3047A>T p.Lys1016Met missense_variant probably damaging PLC/PRF5 Missense Mutation EDARADD chr1 236557796 236557796 C T g.236557796C>T ENST00000334232.4 c.52C>T p.His18Tyr missense_variant benign PLC/PRF5 Missense Mutation ACTN2 chr1 236912554 236912554 A T g.236912554A>T ENST00000366578.4 c.1646A>T p.Glu549Val missense_variant possibly damaging PLC/PRF5 Missense Mutation PLCH2 chr1 2428270 2428270 C A g.2428270C>A ENST00000378486.3 c.1937C>A p.Ala646Glu missense_variant benign PLC/PRF5 Missense Mutation NLRP3 chr1 247588150 247588150 C G g.247588150C>G ENST00000336119.3 c.1405C>G p.Leu469Val missense_variant probably damaging PLC/PRF5 Missense Mutation OR2G2 chr1 247751932 247751932 C A g.247751932C>A ENST00000320065.1 c.271C>A p.Pro91Thr missense_variant benign PLC/PRF5 Missense Mutation OR13G1 chr1 247835649 247835649 C T g.247835649C>T ENST00000359688.2 c.695G>A p.Arg232Lys missense_variant benign PLC/PRF5 Missense Mutation OR2L3 chr1 248224051 248224051 G A g.248224051G>A ENST00000359959.3 c.68G>A p.Gly23Asp missense_variant probably damaging PLC/PRF5 Missense Mutation OR2T3 chr1 248636976 248636976 T C g.248636976T>C ENST00000359594.2 c.325T>C p.Tyr109His missense_variant benign PLC/PRF5 Missense Mutation FAM46B chr1 27332650 27332650 C T g.27332650C>T ENST00000289166.5 c.1063G>A p.Val355Met missense_variant probably damaging PLC/PRF5 Missense Mutation FAM46B chr1 27332954 27332954 G T g.27332954G>T ENST00000289166.5 c.759C>A p.Asp253Glu missense_variant probably damaging PLC/PRF5 Missense Mutation WDTC1 chr1 27624544 27624544 G C g.27624544G>C ENST00000361771.3 c.1171G>C p.Ala391Pro missense_variant probably damaging PLC/PRF5 Missense Mutation GPR3 chr1 27721009 27721009 C A g.27721009C>A ENST00000374024.3 c.707C>A p.Ala236Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation AHDC1 chr1 27877557 27877557 C A g.27877557C>A ENST00000247087.5 c.1070G>T p.Cys357Phe missense_variant probably damaging PLC/PRF5 Missense Mutation PTAFR chr1 28477484 28477484 G C g.28477484G>C ENST00000305392.3 c.49C>G p.Leu17Val missense_variant probably damaging PLC/PRF5 Missense Mutation COL16A1 chr1 32145409 32145409 G T g.32145409G>T ENST00000373672.3 c.2714C>A p.Pro905Gln missense_variant probably damaging PLC/PRF5 Missense Mutation ARHGEF16 chr1 3379701 3379701 G T g.3379701G>T ENST00000378378.4 c.53G>T p.Arg18Leu missense_variant benign PLC/PRF5 Missense Mutation KIAA0319L chr1 35944575 35944575 G T g.35944575G>T ENST00000325722.3 c.905C>A p.Pro302Gln missense_variant benign PLC/PRF5 Missense Mutation RSPO1 chr1 38082296 38082296 T A g.38082296T>A ENST00000356545.2 c.146A>T p.Glu49Val missense_variant probably damaging PLC/PRF5 Missense Mutation EPHA10 chr1 38227499 38227499 C A g.38227499C>A ENST00000319637.6 c.428G>T p.Arg143Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation HPCAL4 chr1 40148280 40148280 C A g.40148280C>A ENST00000372844.3 c.504G>T p.Leu168Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation PPT1 chr1 40562894 40562894 C T g.40562894C>T ENST00000372779.4 c.17G>A p.Cys6Tyr missense_variant benign PLC/PRF5 Missense Mutation ZSWIM5 chr1 45501904 45501904 A T g.45501904A>T ENST00000359600.5 c.1962T>A p.Ser654Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation TOE1 chr1 45809226 45809226 C T g.45809226C>T ENST00000372090.5 c.1385C>T p.Pro462Leu missense_variant benign PLC/PRF5 Missense Mutation TAL1 chr1 47685631 47685631 G A g.47685631G>A ENST00000294339.3 c.757C>T p.Arg253Trp missense_variant probably damaging PLC/PRF5 Missense Mutation STIL chr1 47745918 47745918 C T g.47745918C>T ENST00000243182.6 c.2212G>A p.Ala738Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation BEND5 chr1 49202015 49202015 G T g.49202015G>T ENST00000371833.3 c.1004C>A p.Thr335Lys missense_variant probably damaging PLC/PRF5 Missense Mutation CYB5RL chr1 54656470 54656470 G A g.54656470G>A ENST00000287899.8 c.298C>T p.Pro100Ser missense_variant probably damaging PLC/PRF5 Missense Mutation MROH7 chr1 55166843 55166843 T C g.55166843T>C ENST00000421030.2 c.3133T>C p.Ser1045Pro missense_variant,NMD_transcript_variant probably damaging PLC/PRF5 Missense Mutation NPHP4 chr1 5924495 5924495 C T g.5924495C>T ENST00000378156.4 c.3899G>A p.Ser1300Asn missense_variant benign PLC/PRF5 Missense Mutation KCNAB2 chr1 6150509 6150509 G A g.6150509G>A ENST00000164247.1 c.476G>A p.Arg159His missense_variant probably damaging PLC/PRF5 Missense Mutation TNNI3K chr1 74737384 74737384 C A g.74737384C>A ENST00000326637.3 c.436C>A p.His247Asn missense_variant benign PLC/PRF5 Missense Mutation PRKACB chr1 84679844 84679844 C G g.84679844C>G ENST00000370689.2 c.774C>G p.Phe258Leu missense_variant benign PLC/PRF5 Missense Mutation MCOLN3 chr1 85484860 85484860 T A g.85484860T>A ENST00000370589.2 c.1608A>T p.Lys536Asn missense_variant benign PLC/PRF5 Missense Mutation H6PD chr1 9324716 9324716 C T g.9324716C>T ENST00000377403.2 c.2164C>T p.Pro722Ser missense_variant probably damaging PLC/PRF5 Missense Mutation SEC31B chr10 102249479 102249479 C T g.102249479C>T ENST00000370345.3 c.3005G>A p.Gly1002Glu missense_variant benign PLC/PRF5 Missense Mutation PDZD7 chr10 102789870 102789870 C T g.102789870C>T ENST00000370215.3 c.107G>A p.Gly36Asp missense_variant benign PLC/PRF5 Missense Mutation OBFC1 chr10 105642542 105642542 C T g.105642542C>T ENST00000224950.3 c.1007G>A p.Arg336His missense_variant benign PLC/PRF5 Missense Mutation KCNK18 chr10 118969314 118969314 G T g.118969314G>T ENST00000334549.1 c.659G>T p.Arg220Leu missense_variant benign PLC/PRF5 Missense Mutation SLC18A2 chr10 119015124 119015124 C A g.119015124C>A ENST00000298472.5 c.851C>A p.Pro284His missense_variant probably damaging PLC/PRF5 Missense Mutation INPP5F chr10 121564925 121564925 C A g.121564925C>A ENST00000361976.2 c.1271C>A p.Thr424Lys missense_variant probably damaging PLC/PRF5 Missense Mutation TACC2 chr10 123845944 123845944 G T g.123845944G>T ENST00000334433.3 c.3929G>T p.Ser1310Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation CTBP2 chr10 126715299 126715299 G A g.126715299G>A ENST00000309035.6 c.1030C>T p.Arg344Cys missense_variant probably damaging PLC/PRF5 Missense Mutation CTBP2 chr10 126715300 126715300 G T g.126715300G>T ENST00000309035.6 c.1029C>A p.Ser343Arg missense_variant probably damaging PLC/PRF5 Missense Mutation TEX36 chr10 127344733 127344733 C A g.127344733C>A ENST00000368821.3 c.297G>T p.Lys99Asn missense_variant probably damaging PLC/PRF5 Missense Mutation FAM196A chr10 128974443 128974443 G A g.128974443G>A ENST00000424811.2 c.217C>T p.Arg73Trp missense_variant probably damaging PLC/PRF5 Missense Mutation FRMD4A chr10 13699052 13699052 G A g.13699052G>A ENST00000357447.2 c.2537C>T p.Thr846Met missense_variant probably damaging PLC/PRF5 Missense Mutation NSUN6 chr10 18905130 18905130 A G g.18905130A>G ENST00000377304.4 c.404T>C p.Ile135Thr missense_variant probably damaging PLC/PRF5 Missense Mutation OTUD1 chr10 23729236 23729236 G T g.23729236G>T ENST00000376495.3 c.850G>T p.Asp284Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation OTUD1 chr10 23729260 23729260 C G g.23729260C>G ENST00000376495.3 c.874C>G p.Leu292Val missense_variant probably damaging PLC/PRF5 Missense Mutation ARMC4 chr10 28229652 28229652 C A g.28229652C>A ENST00000305242.5 c.1826G>T p.Arg609Leu missense_variant probably damaging PLC/PRF5 Missense Mutation SVIL chr10 29818702 29818702 C A g.29818702C>A ENST00000355867.4 c.2178G>T p.Arg726Ser missense_variant probably damaging PLC/PRF5 Missense Mutation ZNF438 chr10 31134010 31134010 C G g.31134010C>G ENST00000361310.3 c.2367G>C p.Glu789Asp missense_variant probably damaging PLC/PRF5 Missense Mutation CCDC7 chr10 32740634 32740634 A G g.32740634A>G ENST00000277657.6 c.64A>G p.Thr22Ala missense_variant benign PLC/PRF5 Missense Mutation WDFY4 chr10 50085174 50085174 A G g.50085174A>G ENST00000325239.5 c.7097A>G p.His2366Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation MBL2 chr10 54531361 54531361 A C g.54531361A>C ENST00000373968.3 c.35T>G p.Leu12Arg missense_variant probably damaging PLC/PRF5 Missense Mutation MBL2 chr10 54531362 54531362 G C g.54531362G>C ENST00000373968.3 c.34C>G p.Leu12Val missense_variant probably damaging PLC/PRF5 Missense Mutation PCDH15 chr10 55839134 55839134 C T g.55839134C>T ENST00000320301.6 c.2048G>A p.Arg683His missense_variant possibly damaging PLC/PRF5 Missense Mutation TSPAN15 chr10 71211408 71211408 C A g.71211408C>A ENST00000373290.2 c.58C>A p.Leu20Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation ADAMTS14 chr10 72462194 72462194 G T g.72462194G>T ENST00000373207.1 c.649G>T p.Ala217Ser missense_variant benign PLC/PRF5 Missense Mutation ITIH5 chr10 7659094 7659094 C A g.7659094C>A ENST00000256861.6 c.804G>T p.Gln268His missense_variant possibly damaging PLC/PRF5 Missense Mutation ANKRD1 chr10 92678626 92678626 T A g.92678626T>A ENST00000371697.3 c.449A>T p.Asp150Val missense_variant probably damaging PLC/PRF5 Missense Mutation TM9SF3 chr10 98287804 98287804 C G g.98287804C>G ENST00000371142.4 c.1525G>C p.Ala509Pro missense_variant probably damaging PLC/PRF5 Missense Mutation MMP10 chr11 102645940 102645940 C A g.102645940C>A ENST00000279441.4 c.1045G>T p.Asp349Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation CASP5 chr11 104872889 104872889 C A g.104872889C>A ENST00000260315.3 c.583G>T p.Ala195Ser missense_variant probably damaging PLC/PRF5 Missense Mutation PLET1 chr11 112131288 112131288 G T g.112131288G>T ENST00000338832.2 c.25C>A p.Leu9Met missense_variant probably damaging PLC/PRF5 Missense Mutation CSNK2A3 chr11 11373595 11373595 C A g.11373595C>A ENST00000528848.2 c.1072G>T p.Val358Leu missense_variant benign PLC/PRF5 Missense Mutation APOC3 chr11 116703493 116703493 G A g.116703493G>A ENST00000227667.3 c.193G>A p.Asp65Asn missense_variant benign PLC/PRF5 Missense Mutation BACE1 chr11 117186307 117186307 C G g.117186307C>G ENST00000313005.6 c.205G>C p.Gly69Arg missense_variant probably damaging PLC/PRF5 Missense Mutation FOXR1 chr11 118851209 118851209 C A g.118851209C>A ENST00000317011.3 c.621C>A p.Phe207Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TECTA chr11 120989341 120989341 T A g.120989341T>A ENST00000264037.2 c.1117T>A p.Ser373Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation SORL1 chr11 121429347 121429347 G A g.121429347G>A ENST00000260197.7 c.2711G>A p.Arg904Gln missense_variant probably damaging PLC/PRF5 Missense Mutation NTM chr11 132205019 132205019 G T g.132205019G>T ENST00000374786.1 c.1014G>T p.Leu338Phe missense_variant probably damaging PLC/PRF5 Missense Mutation IGSF9B chr11 133789752 133789752 C A g.133789752C>A ENST00000321016.8 c.3868G>T p.A1290S missense_variant benign PLC/PRF5 Missense Mutation ODF3 chr11 197411 197411 C T g.197411C>T ENST00000325113.4 c.107C>T p.Thr36Ile (Splice) missense_variant,splice_region_variant probably damaging PLC/PRF5 Missense Mutation MRGPRG chr11 3239676 3239676 G T g.3239676G>T ENST00000332314.3 c.368C>A p.Ala123Asp missense_variant damaging PLC/PRF5 Missense Mutation CCDC73 chr11 32636271 32636271 A C g.32636271A>C ENST00000335185.5 c.1593T>G p.Phe531Leu missense_variant benign PLC/PRF5 Missense Mutation PAMR1 chr11 35457607 35457607 C T g.35457607C>T ENST00000378880.2 c.1177G>A p.Ala393Thr missense_variant benign PLC/PRF5 Missense Mutation C11orf96 chr11 43964579 43964579 G T g.43964579G>T NM_001145033.1 c.125G>T p.Arg355Leu missense_variant benign PLC/PRF5 Missense Mutation PRDM11 chr11 45204535 45204535 G T g.45204535G>T ENST00000424263.2 c.347G>T p.Gly116Val missense_variant probably damaging PLC/PRF5 Missense Mutation PTPRJ chr11 48158732 48158732 T G g.48158732T>G ENST00000418331.2 c.2051T>G p.Val684Gly missense_variant probably damaging PLC/PRF5 Missense Mutation HBD chr11 5255230 5255230 C A g.5255230C>A ENST00000292901.3 c.306G>T p.Glu102Asp missense_variant benign PLC/PRF5 Missense Mutation OR51B6 chr11 5372817 5372817 T C g.5372817T>C ENST00000380219.1 c.80T>C p.Ile27Thr missense_variant benign PLC/PRF5 Missense Mutation OR4C6 chr11 55432896 55432896 C A g.55432896C>A ENST00000314259.3 c.254C>A p.Ser85Tyr missense_variant benign PLC/PRF5 Missense Mutation OR8H2 chr11 55872883 55872883 G T g.55872883G>T ENST00000313503.1 c.365G>T p.Arg122Leu missense_variant probably damaging PLC/PRF5 Missense Mutation OR56B1 chr11 5758417 5758417 T C g.5758417T>C ENST00000317121.3 c.671T>C p.Ile224Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation OR5B2 chr11 58189952 58189952 G T g.58189952G>T ENST00000302581.2 c.783C>A p.Ser261Arg missense_variant benign PLC/PRF5 Missense Mutation AHNAK chr11 62291484 62291484 C A g.62291484C>A ENST00000378024.4 c.10405G>T p.Asp3469Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation WDR74 chr11 62601278 62601278 C T g.62601278C>T ENST00000278856.4 c.907G>A p.Gly303Ser missense_variant benign PLC/PRF5 Missense Mutation SLC3A2 chr11 62623803 62623803 G T g.62623803G>T ENST00000377889.2 c.62G>T p.Gly21Val missense_variant benign PLC/PRF5 Missense Mutation FERMT3 chr11 63987960 63987960 G T g.63987960G>T ENST00000279227.5 c.1376G>T p.Arg459Leu missense_variant benign PLC/PRF5 Missense Mutation KCNK4 chr11 64060533 64060533 C A g.64060533C>A ENST00000394525.2 c.43C>A p.Leu15Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation VPS51 chr11 64863741 64863741 G T g.64863741G>T ENST00000279281.3 c.19G>T p.Ala7Ser missense_variant benign PLC/PRF5 Missense Mutation SLC25A45 chr11 65144382 65144382 C A g.65144382C>A ENST00000398802.1 c.505G>T p.Ala169Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation EHBP1L1 chr11 65357601 65357601 A T g.65357601A>T ENST00000309295.4 c.4103A>T p.Gln1368Leu missense_variant probably damaging PLC/PRF5 Missense Mutation AP5B1 chr11 65547111 65547111 C A g.65547111C>A ENST00000532090.2 c.853G>T p.Ala285Ser missense_variant benign PLC/PRF5 Missense Mutation FIBP chr11 65652092 65652092 C A g.65652092C>A ENST00000338369.2 c.876G>T p.Lys292Asn missense_variant benign PLC/PRF5 Missense Mutation SART1 chr11 65732566 65732566 C T g.65732566C>T ENST00000312397.5 c.431C>T p.Ala144Val missense_variant benign PLC/PRF5 Missense Mutation RIN1 chr11 66101609 66101609 C A g.66101609C>A ENST00000311320.4 c.1372G>T p.Ala458Ser missense_variant benign PLC/PRF5 Missense Mutation SPTBN2 chr11 66456642 66456642 T G g.66456642T>G ENST00000309996.2 c.5959A>C p.Lys1987Gln missense_variant probably damaging PLC/PRF5 Missense Mutation ARHGEF17 chr11 73021953 73021953 G T g.73021953G>T ENST00000263674.3 c.2270G>T p.Ser757Ile missense_variant probably damaging PLC/PRF5 Missense Mutation SERPINH1 chr11 75277483 75277483 C T g.75277483C>T ENST00000358171.3 c.89C>T p.Pro30Leu missense_variant benign PLC/PRF5 Missense Mutation SERPINH1 chr11 75277942 75277942 G T g.75277942G>T ENST00000358171.3 c.548G>T p.Gly183Val missense_variant probably damaging PLC/PRF5 Missense Mutation LOC100506127 chr11 76114770 76114770 T C g.76114770T>C NM_001282456.3 c.449T>C p.L150S missense_variant NA PLC/PRF5 Missense Mutation CAPN5 chr11 76830148 76830148 C T g.76830148C>T ENST00000278559.3 c.1240C>T p.Arg414Cys missense_variant probably damaging PLC/PRF5 Missense Mutation OR10A6 chr11 7949341 7949341 T C g.7949341T>C ENST00000309838.2 c.869A>G p.Tyr290Cys missense_variant probably damaging PLC/PRF5 Missense Mutation OR10A6 chr11 7949380 7949380 G A g.7949380G>A ENST00000309838.2 c.830C>T p.Ser277Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation FAT3 chr11 92600259 92600259 G A g.92600259G>A ENST00000298047.6 c.12011G>A p.Ser4004Asn missense_variant possibly damaging PLC/PRF5 Missense Mutation SBF2 chr11 9983644 9983644 C A g.9983644C>A ENST00000256190.8 c.1720G>T p.Ala574Ser missense_variant probably damaging PLC/PRF5 Missense Mutation CLEC7A chr12 10277921 10277921 A G g.10277921A>G ENST00000304084.8 c.467T>C p.Leu156Pro missense_variant probably damaging PLC/PRF5 Missense Mutation HSP90B1 chr12 104341170 104341170 A G g.104341170A>G ENST00000299767.5 c.2344A>G p.Met782Val missense_variant benign PLC/PRF5 Missense Mutation NUAK1 chr12 106461688 106461688 C A g.106461688C>A ENST00000261402.2 c.878G>T p.Arg293Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation EIF2S3L chr12 10658950 10658950 C T g.10658950C>T ENST00000322446.3 c.449C>T p.A150V missense_variant NA PLC/PRF5 Missense Mutation STYK1 chr12 10786685 10786685 T C g.10786685T>C ENST00000075503.3 c.91A>G p.Thr31Ala missense_variant benign PLC/PRF5 Missense Mutation TAS2R9 chr12 10961920 10961920 G A g.10961920G>A ENST00000240691.2 c.755C>T p.Thr252Ile missense_variant probably damaging PLC/PRF5 Missense Mutation TAS2R13 chr12 11061765 11061765 C T g.11061765C>T ENST00000390677.2 c.133G>A p.Asp45Asn missense_variant probably damaging PLC/PRF5 Missense Mutation SLC8B1 chr12 113745604 113745604 C T g.113745604C>T ENST00000202831.3 c.1303G>A p.Ala435Thr missense_variant benign PLC/PRF5 Missense Mutation PRB1 chr12 11507467 11507467 G A g.11507467G>A ENST00000500254.2 c.86C>T p.Pro29Leu missense_variant benign PLC/PRF5 Missense Mutation NOS1 chr12 117672378 117672378 G A g.117672378G>A ENST00000338101.4 c.3329C>T p.Thr1110Met missense_variant probably damaging PLC/PRF5 Missense Mutation KSR2 chr12 117922234 117922234 G T g.117922234G>T ENST00000425217.1 c.2350C>A p.Leu813Met missense_variant probably damaging PLC/PRF5 Missense Mutation DNAH10 chr12 124270423 124270423 G A g.124270423G>A ENST00000409039.3 c.1178G>A p.Arg393His missense_variant probably damaging PLC/PRF5 Missense Mutation DNAH10 chr12 124272434 124272434 G T g.124272434G>T ENST00000409039.3 c.1322G>T p.Arg441Leu missense_variant probably damaging PLC/PRF5 Missense Mutation FZD10 chr12 130648029 130648029 C G g.130648029C>G ENST00000229030.4 c.542C>G p.Pro181Arg missense_variant benign PLC/PRF5 Missense Mutation MMP17 chr12 132334583 132334583 G A g.132334583G>A ENST00000360564.1 c.1441G>A p.Asp481Asn missense_variant probably damaging PLC/PRF5 Missense Mutation ANKLE2 chr12 133313597 133313597 C T g.133313597C>T ENST00000337516.5 c.1475G>A p.Gly492Glu missense_variant probably damaging PLC/PRF5 Missense Mutation CACNA2D4 chr12 1993987 1993987 C G g.1993987C>G ENST00000382722.5 c.1219G>C p.Ala407Pro missense_variant probably damaging PLC/PRF5 Missense Mutation CACNA1C chr12 2566768 2566768 C A g.2566768C>A ENST00000327702.7 c.653C>A p.Ala218Glu missense_variant probably damaging PLC/PRF5 Missense Mutation AC005841.1 chr12 2964395 2964395 G A g.2964395G>A ENST00000382678.3 c.311C>T p.T104M missense_variant NA PLC/PRF5 Missense Mutation AC005841.1 chr12 2964482 2964482 G A g.2964482G>A ENST00000382678.3 c.224C>T p.P75L missense_variant NA PLC/PRF5 Missense Mutation VDR chr12 48240127 48240127 C T g.48240127C>T ENST00000229022.3 c.1015G>A p.Val339Ile missense_variant benign PLC/PRF5 Missense Mutation KMT2D chr12 49431274 49431274 G T g.49431274G>T ENST00000301067.7 c.9865C>A p.Pro3289Thr missense_variant benign PLC/PRF5 Missense Mutation MCRS1 chr12 49957267 49957267 G A g.49957267G>A ENST00000343810.4 c.620C>T p.Ala207Val missense_variant benign PLC/PRF5 Missense Mutation KRT72 chr12 52979911 52979911 C A g.52979911C>A ENST00000293745.2 c.1391G>T p.Ser464Ile missense_variant benign PLC/PRF5 Missense Mutation PMEL chr12 56349421 56349421 G A g.56349421G>A ENST00000360714.4 c.1589C>T p.Ser530Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TIMELESS chr12 56814372 56814372 C A g.56814372C>A ENST00000553532.1 c.3209G>T p.Arg1070Leu missense_variant benign PLC/PRF5 Missense Mutation STAT6 chr12 57500019 57500019 C G g.57500019C>G ENST00000300134.3 c.635G>C p.Gly212Ala missense_variant possibly damaging PLC/PRF5 Missense Mutation LRP1 chr12 57578158 57578158 C T g.57578158C>T ENST00000243077.3 c.6109C>T p.Arg2037Trp missense_variant probably damaging PLC/PRF5 Missense Mutation AGAP2 chr12 58131305 58131305 G T g.58131305G>T ENST00000547588.1 c.725C>A p.Ala242Asp missense_variant benign PLC/PRF5 Missense Mutation XRCC6BP1 chr12 58350648 58350648 G A g.58350648G>A ENST00000300145.3 c.716G>A p.Arg239His missense_variant possibly damaging PLC/PRF5 Missense Mutation AC124890.1 chr12 69186385 69186385 C T g.69186385C>T ENST00000399333.3 c.50C>T p.T17M missense_variant NA PLC/PRF5 Missense Mutation USP5 chr12 6967703 6967703 G T g.6967703G>T ENST00000229268.8 c.980G>T p.Gly327Val missense_variant probably damaging PLC/PRF5 Missense Mutation ZFC3H1 chr12 72030410 72030410 G A g.72030410G>A ENST00000378743.3 c.1960C>T p.Pro654Ser missense_variant benign PLC/PRF5 Missense Mutation CD163L1 chr12 7548752 7548752 C A g.7548752C>A ENST00000313599.3 c.1989G>T p.Arg663Ser missense_variant benign PLC/PRF5 Missense Mutation OTOGL chr12 80658862 80658862 A G g.80658862A>G ENST00000458043.2 c.2069A>G p.Tyr690Cys missense_variant damaging PLC/PRF5 Missense Mutation MGAT4C chr12 86377352 86377352 C A g.86377352C>A ENST00000332156.1 c.244G>T p.Ala82Ser missense_variant benign PLC/PRF5 Missense Mutation LTA4H chr12 96429224 96429224 C A g.96429224C>A ENST00000228740.2 c.74G>T p.Arg25Leu missense_variant benign PLC/PRF5 Missense Mutation COL4A2 chr13 111111198 111111198 G T g.111111198G>T ENST00000360467.5 c.1513G>T p.Ala505Ser missense_variant benign PLC/PRF5 Missense Mutation ATP11A chr13 113488923 113488923 G A g.113488923G>A ENST00000283558.8 c.1580G>A p.Arg527Lys missense_variant benign PLC/PRF5 Missense Mutation CHAMP1 chr13 115089975 115089975 G C g.115089975G>C ENST00000361283.1 c.658G>C p.Ala220Pro missense_variant benign PLC/PRF5 Missense Mutation LATS2 chr13 21563341 21563341 C A g.21563341C>A ENST00000382592.4 c.578G>T p.Gly193Val missense_variant probably damaging PLC/PRF5 Missense Mutation LATS2 chr13 21619993 21619993 G C g.21619993G>C ENST00000382592.4 c.173C>G p.Thr58Ser missense_variant benign PLC/PRF5 Missense Mutation SACS chr13 23906921 23906921 C A g.23906921C>A ENST00000382292.3 c.11094G>T p.Gln3698His missense_variant benign PLC/PRF5 Missense Mutation TNFRSF19 chr13 24243057 24243057 G T g.24243057G>T ENST00000248484.4 c.1066G>T p.Val356Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation MIPEP chr13 24436487 24436487 A G g.24436487A>G ENST00000382172.3 c.1007T>C p.Phe336Ser missense_variant probably damaging PLC/PRF5 Missense Mutation VWA8 chr13 42161772 42161772 C A g.42161772C>A ENST00000379310.3 c.5147G>T p.Arg1716Leu missense_variant probably damaging PLC/PRF5 Missense Mutation FAM124A chr13 51826210 51826210 C T g.51826210C>T ENST00000280057.6 c.815C>T p.Ser272Phe missense_variant probably damaging PLC/PRF5 Missense Mutation NDFIP2 chr13 80055429 80055429 G T g.80055429G>T ENST00000218652.7 c.91G>T p.Ala31Ser missense_variant benign PLC/PRF5 Missense Mutation FARP1 chr13 99047569 99047569 C A g.99047569C>A ENST00000319562.6 c.1253C>A p.Ser418Tyr missense_variant benign PLC/PRF5 Missense Mutation RTL1 chr14 101350080 101350080 C A g.101350080C>A ENST00000534062.1 c.1046G>T p.Ser349Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation KIF26A chr14 104643468 104643468 G T g.104643468G>T ENST00000423312.2 c.4343G>T p.Ser1448Ile missense_variant benign PLC/PRF5 Missense Mutation INF2 chr14 105174901 105174901 C G g.105174901C>G ENST00000330634.7 c.1864C>G p.Arg622Gly missense_variant benign PLC/PRF5 Missense Mutation RNASE6 chr14 21249986 21249986 C T g.21249986C>T ENST00000304677.2 c.128C>T p.Pro43Leu missense_variant benign PLC/PRF5 Missense Mutation NDRG2 chr14 21485865 21485865 C A g.21485865C>A ENST00000298687.5 c.1006G>T p.Ala336Ser missense_variant benign PLC/PRF5 Missense Mutation SUPT16H chr14 21831233 21831233 T A g.21831233T>A ENST00000216297.2 c.1471A>T p.Arg491Trp missense_variant probably damaging PLC/PRF5 Missense Mutation COCH chr14 31355050 31355050 T C g.31355050T>C ENST00000216361.4 c.1009T>C p.Phe337Leu missense_variant probably damaging PLC/PRF5 Missense Mutation HECTD1 chr14 31598007 31598007 C A g.31598007C>A ENST00000399332.1 c.4570G>T p.Ala1524Ser missense_variant probably damaging PLC/PRF5 Missense Mutation FBXO34 chr14 55818933 55818933 A T g.55818933A>T ENST00000313833.4 c.1825A>T p.Ile609Phe missense_variant probably damaging PLC/PRF5 Missense Mutation TRIP11 chr14 92470786 92470786 C G g.92470786C>G ENST00000267622.4 c.3534G>C p.Gln1178His missense_variant probably damaging PLC/PRF5 Missense Mutation TRIP11 chr14 92472014 92472014 T G g.92472014T>G ENST00000267622.4 c.2306A>C p.Gln769Pro missense_variant probably damaging PLC/PRF5 Missense Mutation CYFIP1 chr15 22991138 22991138 G T g.22991138G>T ENST00000313077.7 c.2827G>T p.Gly943Cys missense_variant benign PLC/PRF5 Missense Mutation NPAP1 chr15 24922853 24922853 C G g.24922853C>G ENST00000329468.2 c.1839C>G p.His613Gln missense_variant possibly damaging PLC/PRF5 Missense Mutation NPAP1 chr15 24923670 24923670 A G g.24923670A>G ENST00000329468.2 c.2656A>G p.Thr886Ala missense_variant benign PLC/PRF5 Missense Mutation NPAP1 chr15 24924102 24924102 A G g.24924102A>G ENST00000329468.2 c.3088A>G p.Ser1030Gly missense_variant possibly damaging PLC/PRF5 Missense Mutation HERC2 chr15 28361819 28361819 C A g.28361819C>A ENST00000261609.7 c.13601G>T p.Arg4534Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TRPM1 chr15 31325114 31325114 G C g.31325114G>C ENST00000256552.6 c.2730C>G p.Ser910Arg missense_variant benign PLC/PRF5 Missense Mutation FMN1 chr15 33192306 33192306 G T g.33192306G>T ENST00000334528.9 c.2859C>A p.Ser953Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation RYR3 chr15 33795865 33795865 G T g.33795865G>T ENST00000389232.4 c.205G>T p.Val69Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation RYR3 chr15 34047292 34047292 C A g.34047292C>A ENST00000389232.4 c.8426C>A p.Ala2809Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation PLCB2 chr15 40581034 40581034 C A g.40581034C>A ENST00000260402.3 c.3440G>T p.Arg1147Met missense_variant benign PLC/PRF5 Missense Mutation PLCB2 chr15 40581038 40581038 G A g.40581038G>A ENST00000260402.3 c.3436C>T p.Leu1146Phe missense_variant benign PLC/PRF5 Missense Mutation PLCB2 chr15 40591371 40591371 C A g.40591371C>A ENST00000260402.3 c.641G>T p.Ser214Ile missense_variant benign PLC/PRF5 Missense Mutation STARD9 chr15 42985103 42985103 G T g.42985103G>T ENST00000290607.7 c.11327G>T p.Gly3776Val missense_variant damaging PLC/PRF5 Missense Mutation CKMT1A chr15 43991268 43991268 T C g.43991268T>C ENST00000413453.2 c.1235T>C p.Val412Ala missense_variant benign PLC/PRF5 Missense Mutation CASC4 chr15 44673021 44673021 A C g.44673021A>C ENST00000299957.6 c.919A>C p.Asn307His missense_variant benign PLC/PRF5 Missense Mutation CEP152 chr15 49030795 49030795 G A g.49030795G>A ENST00000380950.2 c.4784C>T p.Pro1595Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation COPS2 chr15 49429360 49429360 T A g.49429360T>A ENST00000388901.5 c.527A>T p.His176Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation USP8 chr15 50757336 50757336 G A g.50757336G>A ENST00000307179.4 c.634G>A p.Asp212Asn missense_variant benign PLC/PRF5 Missense Mutation DYX1C1 chr15 55731759 55731759 C A g.55731759C>A ENST00000321149.3 c.804G>T p.Glu268Asp missense_variant benign PLC/PRF5 Missense Mutation NEDD4 chr15 56208066 56208066 C A g.56208066C>A ENST00000338963.2 c.964G>T p.Ala322Ser missense_variant probably damaging PLC/PRF5 Missense Mutation RFX7 chr15 56385742 56385742 T C g.56385742T>C ENST00000423270.1 c.4184A>G p.Asn1395Ser missense_variant benign PLC/PRF5 Missense Mutation HERC1 chr15 63986249 63986249 G C g.63986249G>C ENST00000443617.2 c.5588C>G p.Ser1863Cys missense_variant possibly damaging PLC/PRF5 Missense Mutation SNX1 chr15 64430256 64430256 G A g.64430256G>A ENST00000261889.5 c.1534G>A p.G512R missense_variant benign PLC/PRF5 Missense Mutation SNX22 chr15 64444839 64444839 C G g.64444839C>G ENST00000325881.4 c.162C>G p.Ile54Met (Splice) missense_variant,splice_region_variant benign PLC/PRF5 Missense Mutation TRIP4 chr15 64687621 64687621 G A g.64687621G>A ENST00000261884.3 c.296G>A p.Gly99Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation DENND4A chr15 65960026 65960026 C T g.65960026C>T ENST00000431932.2 c.4870G>A p.Glu1624Lys missense_variant benign PLC/PRF5 Missense Mutation ETFA chr15 76566832 76566832 C T g.76566832C>T ENST00000557943.1 c.737G>A p.Gly246Asp missense_variant probably damaging PLC/PRF5 Missense Mutation C15orf26 chr15 81426682 81426682 C A g.81426682C>A ENST00000286732.4 c.12C>A p.Asn4Lys missense_variant possibly damaging PLC/PRF5 Missense Mutation TMC3 chr15 81627121 81627121 C T g.81627121C>T ENST00000359440.5 c.2399G>A p.Arg800Lys missense_variant benign PLC/PRF5 Missense Mutation AP3B2 chr15 83330996 83330996 C A g.83330996C>A ENST00000261722.3 c.2785G>T p.Ala929Ser missense_variant benign PLC/PRF5 Missense Mutation AP3B2 chr15 83330998 83330998 A G g.83330998A>G ENST00000261722.3 c.2783T>C p.Leu928Pro missense_variant probably damaging PLC/PRF5 Missense Mutation ADAMTSL3 chr15 84582074 84582074 C T g.84582074C>T ENST00000286744.5 c.1931C>T p.Thr644Met missense_variant benign PLC/PRF5 Missense Mutation AKAP13 chr15 86198893 86198893 T G g.86198893T>G ENST00000361243.2 c.4620T>G p.Ser1540Arg missense_variant probably damaging PLC/PRF5 Missense Mutation PLIN1 chr15 90212861 90212861 G C g.90212861G>C ENST00000300055.5 c.641C>G p.Ala214Gly missense_variant benign PLC/PRF5 Missense Mutation PRC1 chr15 91510369 91510369 G T g.91510369G>T ENST00000361188.5 c.1813C>A p.Gln605Lys missense_variant benign PLC/PRF5 Missense Mutation C15orf32 chr15 93015673 93015673 C A g.93015673C>A ENST00000333334.2 c.295C>A p.Pro99Thr missense_variant probably damaging PLC/PRF5 Missense Mutation TNP2 chr16 11362879 11362879 G T g.11362879G>T ENST00000312693.3 c.241C>A p.Arg81Ser missense_variant benign PLC/PRF5 Missense Mutation CACNA1H chr16 1259355 1259355 C A g.1259355C>A ENST00000348261.5 c.3687C>A p.Phe1229Leu missense_variant benign PLC/PRF5 Missense Mutation BAIAP3 chr16 1388589 1388589 G T g.1388589G>T ENST00000324385.5 c.144G>T p.Arg48Ser missense_variant probably damaging PLC/PRF5 Missense Mutation GPR139 chr16 20043230 20043230 C A g.20043230C>A ENST00000570682.1 c.889G>T p.Ala297Ser missense_variant benign PLC/PRF5 Missense Mutation TSC2 chr16 2136835 2136835 A G g.2136835A>G ENST00000219476.3 c.4952A>G p.Asn1651Ser missense_variant probably damaging PLC/PRF5 Missense Mutation EEF2K chr16 22278183 22278183 G T g.22278183G>T ENST00000263026.5 c.1750G>T p.Asp584Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation HS3ST4 chr16 26147291 26147291 G T g.26147291G>T ENST00000331351.5 c.1093G>T p.Ala365Ser missense_variant probably damaging PLC/PRF5 Missense Mutation IL21R chr16 27454407 27454407 G T g.27454407G>T ENST00000337929.3 c.477G>T p.Gln159His missense_variant benign PLC/PRF5 Missense Mutation FLYWCH1 chr16 2983795 2983795 C T g.2983795C>T ENST00000253928.9 c.1328C>T p.Ala443Val missense_variant possibly damaging PLC/PRF5 Missense Mutation TAOK2 chr16 29994417 29994417 G T g.29994417G>T ENST00000279394.3 c.1024G>T p.Ala342Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation PAQR4 chr16 3021664 3021664 G T g.3021664G>T ENST00000318782.8 c.537G>T p.Trp179Cys missense_variant probably damaging PLC/PRF5 Missense Mutation DECR2 chr16 461049 461049 A G g.461049A>G ENST00000219481.5 c.634A>G p.Ser212Gly missense_variant benign PLC/PRF5 Missense Mutation SEC14L5 chr16 5046870 5046870 G T g.5046870G>T ENST00000251170.7 c.795G>T p.Glu265Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation FTO chr16 53859930 53859930 C T g.53859930C>T ENST00000471389.1 c.278C>T p.Pro93Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TEX13C chrX 124454006 124454006 G T g.124454006G>T NM_001195272.1 c.38G>T p.Arg13Leu missense_variant NA PLC/PRF5 Missense Mutation ELMO3 chr16 67236650 67236650 A G g.67236650A>G ENST00000393997.2 c.1678A>G p.Thr560Ala missense_variant possibly damaging PLC/PRF5 Missense Mutation DPEP3 chr16 68010059 68010059 G T g.68010059G>T ENST00000268793.4 c.1242C>A p.Ser414Arg missense_variant benign PLC/PRF5 Missense Mutation MTSS1L chr16 70697855 70697855 C A g.70697855C>A ENST00000338779.6 c.1969G>T p.Gly657Trp missense_variant probably damaging PLC/PRF5 Missense Mutation HYDIN chr16 71015341 71015341 T C g.71015341T>C ENST00000393567.2 c.4463A>G p.Glu1488Gly missense_variant probably damaging PLC/PRF5 Missense Mutation HYDIN chr16 71022365 71022365 G T g.71022365G>T ENST00000393567.2 c.3915C>A p.Ser1305Arg missense_variant probably damaging PLC/PRF5 Missense Mutation HYDIN chr16 71127799 71127799 C A g.71127799C>A ENST00000321489.5 c.1367G>T p.Gly456Val missense_variant probably damaging PLC/PRF5 Missense Mutation CLEC18B chr16 74447523 74447523 C T g.74447523C>T ENST00000339953.5 c.508G>A p.Ala170Thr missense_variant benign PLC/PRF5 Missense Mutation ADAD2 chr16 84229578 84229578 G T g.84229578G>T ENST00000315906.5 c.1210G>T p.Ala404Ser missense_variant benign PLC/PRF5 Missense Mutation FOXC2 chr16 86602395 86602395 C T g.86602395C>T ENST00000320354.4 c.1454C>T p.Pro485Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation ZFPM1 chr16 88580831 88580831 G T g.88580831G>T ENST00000319555.3 c.305G>T p.Arg102Leu missense_variant benign PLC/PRF5 Missense Mutation ZC3H18 chr16 88694121 88694121 G T g.88694121G>T ENST00000301011.5 c.2200G>T p.Asp734Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation CPNE7 chr16 89643984 89643984 C A g.89643984C>A ENST00000268720.5 c.212C>A p.Pro71His missense_variant probably damaging PLC/PRF5 Missense Mutation MYH2 chr17 10428621 10428621 G A g.10428621G>A ENST00000245503.5 c.4582C>T p.Arg1528Cys missense_variant benign PLC/PRF5 Missense Mutation CORO6 chr17 27943302 27943302 G T g.27943302G>T ENST00000345068.5 c.1057C>A p.Arg353Ser missense_variant probably damaging PLC/PRF5 Missense Mutation NF1 chr17 29554278 29554278 G T g.29554278G>T ENST00000356175.3 c.2294G>T p.Arg765Leu missense_variant benign PLC/PRF5 Missense Mutation MYO1D chr17 30981593 30981593 G A g.30981593G>A ENST00000318217.5 c.2392C>T p.Pro798Ser missense_variant benign PLC/PRF5 Missense Mutation GRB7 chr17 37902195 37902195 G C g.37902195G>C ENST00000309156.4 c.1300G>C p.Gly434Arg missense_variant probably damaging PLC/PRF5 Missense Mutation GRB7 chr17 37902196 37902196 G T g.37902196G>T ENST00000309156.4 c.1301G>T p.Gly434Val missense_variant probably damaging PLC/PRF5 Missense Mutation P2RX1 chr17 3802232 3802232 C T g.3802232C>T ENST00000225538.3 c.962G>A p.Gly321Asp missense_variant probably damaging PLC/PRF5 Missense Mutation KRT20 chr17 39034580 39034580 G T g.39034580G>T ENST00000167588.3 c.956C>A p.Ala319Asp missense_variant benign PLC/PRF5 Missense Mutation KRTAP9-8 chr17 39394632 39394632 C G g.39394632C>G ENST00000254072.6 c.329C>G p.Thr110Ser missense_variant benign PLC/PRF5 Missense Mutation KRTAP16-1 chr17 39464711 39464711 C A g.39464711C>A ENST00000391352.1 c.795G>T p.Gln265His missense_variant benign PLC/PRF5 Missense Mutation CNTNAP1 chr17 40847686 40847686 G A g.40847686G>A ENST00000264638.4 c.3140G>A p.Gly1047Asp missense_variant benign PLC/PRF5 Missense Mutation BRCA1 chr17 41244472 41244472 T C g.41244472T>C ENST00000346315.3 c.3076A>G p.Ile1026Val missense_variant benign PLC/PRF5 Missense Mutation ITGA2B chr17 42462399 42462399 C A g.42462399C>A ENST00000262407.5 c.716G>T p.Arg239Leu missense_variant benign PLC/PRF5 Missense Mutation KIF18B chr17 43006220 43006220 C T g.43006220C>T ENST00000593135.1 c.1690G>A p.A564T missense_variant benign PLC/PRF5 Missense Mutation CRHR1 chr17 43906932 43906932 G T g.43906932G>T ENST00000398285.3 c.440G>T p.Gly147Val missense_variant benign PLC/PRF5 Missense Mutation MAPT chr17 44061044 44061044 G T g.44061044G>T ENST00000262410.5 c.874G>T p.Ala292Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation MRPL10 chr17 45901633 45901633 C T g.45901633C>T ENST00000351111.2 c.724G>A p.Glu242Lys missense_variant possibly damaging PLC/PRF5 Missense Mutation PSMB6 chr17 4701698 4701698 C A g.4701698C>A ENST00000270586.3 c.701C>A p.Ala234Asp missense_variant benign PLC/PRF5 Missense Mutation GIP chr17 47044590 47044590 A C g.47044590A>C ENST00000357424.2 c.5T>G p.Val2Gly missense_variant benign PLC/PRF5 Missense Mutation AKAP1 chr17 55182853 55182853 C G g.55182853C>G ENST00000314126.3 c.28C>G p.Pro10Ala missense_variant probably damaging PLC/PRF5 Missense Mutation EPX chr17 56272507 56272507 G T g.56272507G>T ENST00000225371.5 c.777G>T p.Gln259His missense_variant probably damaging PLC/PRF5 Missense Mutation BZRAP1 chr17 56389795 56389795 C A g.56389795C>A ENST00000343736.4 c.2387G>T p.Arg796Leu missense_variant benign PLC/PRF5 Missense Mutation TEX14 chr17 56649429 56649429 C G g.56649429C>G ENST00000240361.8 c.3708G>C p.Gln1236His missense_variant benign PLC/PRF5 Missense Mutation WSCD1 chr17 5984126 5984126 G T g.5984126G>T ENST00000317744.5 c.148G>T p.Gly50Cys missense_variant probably damaging PLC/PRF5 Missense Mutation MRC2 chr17 60769705 60769705 G T g.60769705G>T ENST00000303375.5 c.4333G>T p.Gly1445Trp missense_variant probably damaging PLC/PRF5 Missense Mutation MARCH10 chr17 60802361 60802361 C A g.60802361C>A ENST00000311269.5 c.2042G>T p.Gly681Val missense_variant probably damaging PLC/PRF5 Missense Mutation KIAA0753 chr17 6493120 6493120 T C g.6493120T>C ENST00000361413.3 c.2765A>G p.Asn922Ser missense_variant probably damaging PLC/PRF5 Missense Mutation C17orf80 chr17 71231910 71231910 G T g.71231910G>T ENST00000255557.4 c.289G>T p.Ala97Ser missense_variant probably damaging PLC/PRF5 Missense Mutation SDK2 chr17 71436961 71436961 C A g.71436961C>A ENST00000388726.3 c.715G>T p.Ala239Ser missense_variant probably damaging PLC/PRF5 Missense Mutation TTYH2 chr17 72248391 72248391 G T g.72248391G>T ENST00000269346.4 c.1135G>T p.Ala379Ser missense_variant benign PLC/PRF5 Missense Mutation NEURL4 chr17 7226312 7226312 C T g.7226312C>T ENST00000315614.7 c.2548G>A p.Gly850Ser missense_variant probably damaging PLC/PRF5 Missense Mutation NEURL4 chr17 7229007 7229007 C A g.7229007C>A ENST00000315614.7 c.1319G>T p.Arg440Met missense_variant probably damaging PLC/PRF5 Missense Mutation ICT1 chr17 73016680 73016680 G A g.73016680G>A ENST00000301585.5 c.464G>A p.Arg155Gln missense_variant probably damaging PLC/PRF5 Missense Mutation EVPL chr17 74004932 74004932 G A g.74004932G>A ENST00000301607.3 c.4354C>T p.Arg1452Trp missense_variant probably damaging PLC/PRF5 Missense Mutation FOXJ1 chr17 74133711 74133711 A T g.74133711A>T ENST00000322957.6 c.989T>A p.Leu330Gln missense_variant probably damaging PLC/PRF5 Missense Mutation TP53 chr17 7577534 7577534 C A g.7577534C>A ENST00000269305.4 c.747G>T p.Arg249Ser missense_variant probably damaging PLC/PRF5 Missense Mutation DNAH17 chr17 76447592 76447592 C T g.76447592C>T NM_173628.3 c.10693G>A p.Ala3560Thr missense_variant damaging PLC/PRF5 Missense Mutation DNAH17 chr17 76457765 76457765 G A g.76457765G>A NM_173628.3 c.9200C>T p.Ala3062Val missense_variant damaging PLC/PRF5 Missense Mutation DNAH17 chr17 76490152 76490152 A C g.76490152A>C NM_173628.3 c.6374T>G p.Phe2120Cys missense_variant damaging PLC/PRF5 Missense Mutation SGSH chr17 78187993 78187993 G T g.78187993G>T ENST00000326317.6 c.641C>A p.Ala214Asp missense_variant benign PLC/PRF5 Missense Mutation SLC26A11 chr17 78210868 78210868 C G g.78210868C>G ENST00000361193.3 c.878C>G p.Ala293Gly missense_variant benign PLC/PRF5 Missense Mutation PPP1R27 chr17 79791719 79791719 G C g.79791719G>C ENST00000330261.4 c.351C>G p.Ile117Met missense_variant probably damaging PLC/PRF5 Missense Mutation FOXK2 chr17 80525994 80525994 G T g.80525994G>T ENST00000335255.5 c.679G>T p.Val227Leu missense_variant benign PLC/PRF5 Missense Mutation PER1 chr17 8052905 8052905 C A g.8052905C>A ENST00000317276.4 c.728G>T p.Arg243Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation ABR chr17 962083 962083 C A g.962083C>A ENST00000302538.5 c.1207G>T p.Ala403Ser missense_variant benign PLC/PRF5 Missense Mutation EMILIN2 chr18 2892475 2892475 C T g.2892475C>T ENST00000254528.3 c.2350C>T p.Pro784Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation ASXL3 chr18 31324317 31324317 G T g.31324317G>T ENST00000269197.5 c.4505G>T p.Gly1502Val missense_variant benign PLC/PRF5 Missense Mutation DYM chr18 46956683 46956683 C G g.46956683C>G ENST00000269445.6 c.82G>C p.Glu28Gln missense_variant probably damaging PLC/PRF5 Missense Mutation WDR7 chr18 54444033 54444033 G T g.54444033G>T ENST00000254442.3 c.2869G>T p.Ala957Ser missense_variant benign PLC/PRF5 Missense Mutation ZNF516 chr18 74153971 74153971 A T g.74153971A>T ENST00000443185.2 c.1040T>A p.L347Q missense_variant probably damaging PLC/PRF5 Missense Mutation SALL3 chr18 76755026 76755026 G A g.76755026G>A ENST00000537592.2 c.3035G>A p.Arg1012Gln missense_variant probably damaging PLC/PRF5 Missense Mutation ATP9B chr18 77013390 77013390 T G g.77013390T>G ENST00000307671.7 c.1117T>G p.Leu373Val missense_variant possibly damaging PLC/PRF5 Missense Mutation PPAN chr19 10221813 10221813 G A g.10221813G>A ENST00000253107.7 c.1394G>A p.Arg465Gln missense_variant unknown PLC/PRF5 Missense Mutation ICAM5 chr19 10401976 10401976 C A g.10401976C>A ENST00000221980.4 c.311C>A p.Ala104Glu missense_variant probably damaging PLC/PRF5 Missense Mutation STK11 chr19 1220487 1220487 G A g.1220487G>A ENST00000326873.7 c.580G>A p.Asp194Asn missense_variant probably damaging PLC/PRF5 Missense Mutation BEST2 chr19 12863479 12863479 C G g.12863479C>G ENST00000042931.1 c.73C>G p.Arg25Gly missense_variant probably damaging PLC/PRF5 Missense Mutation ZNF333 chr19 14830064 14830064 G T g.14830064G>T ENST00000292530.6 c.1925G>T p.Gly642Val missense_variant probably damaging PLC/PRF5 Missense Mutation ABHD8 chr19 17405602 17405602 C A g.17405602C>A ENST00000247706.3 c.814G>T p.Val272Leu missense_variant benign PLC/PRF5 Missense Mutation ANO8 chr19 17436060 17436060 C T g.17436060C>T ENST00000159087.4 c.2797G>A p.Glu933Lys missense_variant probably damaging PLC/PRF5 Missense Mutation REXO1 chr19 1827245 1827245 C A g.1827245C>A ENST00000170168.4 c.1543G>T p.Ala515Ser missense_variant benign PLC/PRF5 Missense Mutation ZNF493 chr19 21607405 21607405 G T g.21607405G>T ENST00000355504.4 c.1560G>T p.Lys520Asn missense_variant possibly damaging PLC/PRF5 Missense Mutation LINGO3 chr19 2290457 2290457 G A g.2290457G>A ENST00000404279.1 c.1319C>T p.Ala440Val missense_variant benign PLC/PRF5 Missense Mutation ZNF77 chr19 2933969 2933969 C A g.2933969C>A ENST00000314531.4 c.1156G>T p.Gly386Trp missense_variant probably damaging PLC/PRF5 Missense Mutation ZNF536 chr19 31039805 31039805 C A g.31039805C>A ENST00000355537.3 c.3279C>A p.Ser1093Arg missense_variant benign PLC/PRF5 Missense Mutation CEBPA chr19 33793385 33793385 C A g.33793385C>A NM_001287424.1 c.41G>T p.Arg14Leu missense_variant NA PLC/PRF5 Missense Mutation LSR chr19 35758368 35758368 C T g.35758368C>T ENST00000361790.3 c.1645C>T p.Pro549Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation ETV2 chr19 36134380 36134380 C A g.36134380C>A ENST00000402764.2 c.440C>A p.Ala147Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation ETV2 chr19 36135681 36135681 G A g.36135681G>A ENST00000402764.2 c.956G>A p.Arg319His missense_variant probably damaging PLC/PRF5 Missense Mutation PRODH2 chr19 36297387 36297387 G C g.36297387G>C ENST00000301175.3 c.1174C>G p.Gln392Glu missense_variant benign PLC/PRF5 Missense Mutation NPHS1 chr19 36322655 36322655 C A g.36322655C>A ENST00000378910.5 c.3176G>T p.Gly1059Val missense_variant benign PLC/PRF5 Missense Mutation WDR87 chr19 38383366 38383366 G T g.38383366G>T ENST00000303868.5 c.2860C>A p.Leu954Ile missense_variant probably damaging PLC/PRF5 Missense Mutation RYR1 chr19 38991598 38991598 C A g.38991598C>A ENST00000355481.4 c.7582C>A p.Pro2528Thr missense_variant probably damaging PLC/PRF5 Missense Mutation LGALS16 chr19 40151062 40151062 G T g.40151062G>T ENST00000392051.3 c.331G>T p.Ala111Ser missense_variant benign PLC/PRF5 Missense Mutation PRR19 chr19 42814570 42814570 C G g.42814570C>G ENST00000341747.3 c.749C>G p.Ala250Gly missense_variant benign PLC/PRF5 Missense Mutation GIPR chr19 46185001 46185001 C G g.46185001C>G ENST00000590918.1 c.1209C>G p.Ile403Met missense_variant possibly damaging PLC/PRF5 Missense Mutation DMPK chr19 46273882 46273882 A G g.46273882A>G ENST00000291270.4 c.1754T>C p.Leu585Pro missense_variant probably damaging PLC/PRF5 Missense Mutation ZC3H4 chr19 47570825 47570825 C A g.47570825C>A ENST00000253048.5 c.2700G>T p.Lys900Asn missense_variant possibly damaging PLC/PRF5 Missense Mutation DHX34 chr19 47870266 47870266 G T g.47870266G>T ENST00000328771.4 c.1622G>T p.Arg541Leu missense_variant benign PLC/PRF5 Missense Mutation MEIS3 chr19 47920565 47920565 C T g.47920565C>T ENST00000331559.5 c.55G>A p.Ala19Thr missense_variant benign PLC/PRF5 Missense Mutation TICAM1 chr19 4817454 4817454 C A g.4817454C>A ENST00000248244.5 c.936G>T p.Gln312His missense_variant possibly damaging PLC/PRF5 Missense Mutation LIG1 chr19 48634422 48634422 C G g.48634422C>G ENST00000263274.7 c.1732G>C p.Ala578Pro missense_variant possibly damaging PLC/PRF5 Missense Mutation NAPSA chr19 50862765 50862765 C T g.50862765C>T ENST00000253719.2 c.931G>A p.Gly311Arg missense_variant probably damaging PLC/PRF5 Missense Mutation SHANK1 chr19 51192189 51192189 G T g.51192189G>T ENST00000293441.1 c.2084C>A p.Ala695Asp missense_variant probably damaging PLC/PRF5 Missense Mutation SHANK1 chr19 51217137 51217137 C A g.51217137C>A ENST00000293441.1 c.710G>T p.Gly237Val missense_variant probably damaging PLC/PRF5 Missense Mutation GPR32 chr19 51274365 51274365 G T g.51274365G>T ENST00000270590.4 c.508G>T p.Ala170Ser missense_variant benign PLC/PRF5 Missense Mutation KLK1 chr19 51325050 51325050 G C g.51325050G>C ENST00000301420.2 c.124C>G p.Leu42Val missense_variant benign PLC/PRF5 Missense Mutation KLK4 chr19 51412604 51412604 G T g.51412604G>T ENST00000324041.1 c.128C>A p.Pro43His missense_variant probably damaging PLC/PRF5 Missense Mutation KLK6 chr19 51465029 51465029 C A g.51465029C>A ENST00000310157.2 c.553G>T p.Asp185Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation SIGLEC9 chr19 51628277 51628277 G A g.51628277G>A ENST00000250360.3 c.46G>A p.Glu16Lys missense_variant benign PLC/PRF5 Missense Mutation CD33 chr19 51728621 51728621 G A g.51728621G>A ENST00000262262.4 c.185G>A p.Arg62Gln missense_variant possibly damaging PLC/PRF5 Missense Mutation NLRP12 chr19 54313195 54313195 C T g.54313195C>T ENST00000324134.6 c.1718G>A p.Ser573Asn missense_variant benign PLC/PRF5 Missense Mutation LILRA4 chr19 54848751 54848751 C A g.54848751C>A ENST00000291759.4 c.872G>T p.Gly291Val missense_variant probably damaging PLC/PRF5 Missense Mutation EPS8L1 chr19 55597463 55597463 G T g.55597463G>T ENST00000201647.6 c.1553G>T p.Arg518Leu missense_variant probably damaging PLC/PRF5 Missense Mutation SSC5D chr19 56002342 56002342 G T g.56002342G>T ENST00000389623.6 c.790G>T p.Asp264Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation NLRP13 chr19 56424008 56424008 C T g.56424008C>T ENST00000342929.3 c.1175G>A p.Arg392Gln missense_variant possibly damaging PLC/PRF5 Missense Mutation ZNF460 chr19 57803590 57803590 C T g.57803590C>T ENST00000360338.3 c.1681C>T p.Pro561Ser missense_variant benign PLC/PRF5 Missense Mutation ZSCAN18 chr19 58596411 58596411 C A g.58596411C>A ENST00000240727.6 c.1174G>T p.Ala392Ser missense_variant benign PLC/PRF5 Missense Mutation SLC27A5 chr19 59022291 59022291 C A g.59022291C>A ENST00000263093.2 c.695G>T p.Arg232Leu missense_variant benign PLC/PRF5 Missense Mutation TRIP10 chr19 6743845 6743845 G A g.6743845G>A ENST00000313244.9 c.640G>A p.Asp214Asn (Splice) missense_variant,splice_region_variant benign PLC/PRF5 Missense Mutation PALM chr19 746408 746408 C A g.746408C>A ENST00000338448.5 c.758C>A p.Ala253Glu missense_variant possibly damaging PLC/PRF5 Missense Mutation SNAPC2 chr19 7986963 7986963 C G g.7986963C>G ENST00000221573.6 c.416C>G p.Ser139Cys missense_variant probably damaging PLC/PRF5 Missense Mutation AFF3 chr2 100623697 100623697 C A g.100623697C>A ENST00000317233.4 c.400G>T p.Ala134Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation SULT1C2 chr2 108910750 108910750 C G g.108910750C>G ENST00000251481.6 c.217C>G p.Arg73Gly missense_variant probably damaging PLC/PRF5 Missense Mutation PDIA6 chr2 10960950 10960950 C T g.10960950C>T ENST00000404371.2 c.41G>A p.R14Q missense_variant benign PLC/PRF5 Missense Mutation SH3RF3 chr2 110053480 110053480 C A g.110053480C>A ENST00000309415.6 c.1706C>A p.A569D missense_variant benign PLC/PRF5 Missense Mutation SLC35F5 chr2 114508069 114508069 C A g.114508069C>A ENST00000245680.2 c.350G>T p.Gly117Val missense_variant possibly damaging PLC/PRF5 Missense Mutation LPIN1 chr2 11817793 11817793 T C g.11817793T>C ENST00000449576.2 c.20T>C p.Ile7Thr missense_variant unknown PLC/PRF5 Missense Mutation TMEM177 chr2 120439211 120439211 G T g.120439211G>T ENST00000272521.6 c.782G>T p.Arg261Leu missense_variant probably damaging PLC/PRF5 Missense Mutation GLI2 chr2 121747018 121747018 G T g.121747018G>T ENST00000361492.4 c.3528G>T p.Gln1176His missense_variant probably damaging PLC/PRF5 Missense Mutation NIFK chr2 122489743 122489743 T A g.122489743T>A ENST00000285814.4 c.281A>T p.Glu94Val missense_variant probably damaging PLC/PRF5 Missense Mutation MYO7B chr2 128366325 128366325 G T g.128366325G>T ENST00000389524.4 c.2686G>T p.Ala896Ser missense_variant benign PLC/PRF5 Missense Mutation POLR2D chr2 128615641 128615641 C T g.128615641C>T ENST00000272645.4 c.34G>A p.Asp12Asn missense_variant benign PLC/PRF5 Missense Mutation PTPN18 chr2 131130754 131130754 C T g.131130754C>T ENST00000175756.5 c.1340C>T p.Pro447Leu missense_variant probably damaging PLC/PRF5 Missense Mutation NCKAP5 chr2 133541595 133541595 G A g.133541595G>A ENST00000317721.6 c.2789C>T p.Pro930Leu missense_variant probably damaging PLC/PRF5 Missense Mutation MGAT5 chr2 135206372 135206372 G A g.135206372G>A ENST00000281923.2 c.2180G>A p.Arg727Gln missense_variant possibly damaging PLC/PRF5 Missense Mutation NEB chr2 152567015 152567015 C A g.152567015C>A ENST00000172853.10 c.860G>T p.Gly287Val missense_variant probably damaging PLC/PRF5 Missense Mutation FMNL2 chr2 153417516 153417516 G T g.153417516G>T ENST00000288670.9 c.563G>T p.Ser188Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation GALNT13 chr2 155115554 155115554 G T g.155115554G>T ENST00000392825.3 c.878G>T p.Gly293Val missense_variant probably damaging PLC/PRF5 Missense Mutation BAZ2B chr2 160205342 160205342 T C g.160205342T>C ENST00000392783.2 c.5140A>G p.Met1714Val (Splice) missense_variant,splice_region_variant possibly damaging PLC/PRF5 Missense Mutation CSRNP3 chr2 166535754 166535754 G T g.166535754G>T ENST00000314499.7 c.1249G>T p.Ala417Ser missense_variant benign PLC/PRF5 Missense Mutation HOXD12 chr2 176964677 176964677 C A g.176964677C>A ENST00000404162.2 c.148C>A p.Pro50Thr missense_variant probably damaging PLC/PRF5 Missense Mutation HOXD3 chr2 177036532 177036532 G T g.177036532G>T ENST00000249440.3 c.829G>T p.Ala277Ser missense_variant benign PLC/PRF5 Missense Mutation HNRNPA3 chr2 178081591 178081591 G T g.178081591G>T ENST00000392524.2 c.743G>T p.Gly248Val missense_variant possibly damaging PLC/PRF5 Missense Mutation SESTD1 chr2 179986599 179986599 T C g.179986599T>C ENST00000428443.3 c.1340A>G p.Asn447Ser missense_variant benign PLC/PRF5 Missense Mutation SSFA2 chr2 182792900 182792900 A G g.182792900A>G ENST00000431877.2 c.3688A>G p.Ile1230Val missense_variant probably damaging PLC/PRF5 Missense Mutation ITGAV chr2 187533586 187533586 A G g.187533586A>G ENST00000261023.3 c.2531A>G p.Tyr844Cys missense_variant probably damaging PLC/PRF5 Missense Mutation FAM171B chr2 187626918 187626918 G T g.187626918G>T ENST00000304698.5 c.1849G>T p.Ala617Ser missense_variant benign PLC/PRF5 Missense Mutation ANKAR chr2 190571692 190571692 G A g.190571692G>A ENST00000313581.4 c.1939G>A p.Ala647Thr missense_variant probably damaging PLC/PRF5 Missense Mutation SDPR chr2 192701184 192701184 C A g.192701184C>A ENST00000304141.4 c.743G>T p.Arg248Leu missense_variant probably damaging PLC/PRF5 Missense Mutation C2orf69 chr2 200776268 200776268 G C g.200776268G>C ENST00000319974.5 c.107G>C p.Gly36Ala missense_variant benign PLC/PRF5 Missense Mutation WDR35 chr2 20166607 20166607 C T g.20166607C>T ENST00000281405.4 c.1072G>A p.Val358Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation WDR35 chr2 20166628 20166628 G C g.20166628G>C ENST00000281405.4 c.1051C>G p.Pro351Ala missense_variant benign PLC/PRF5 Missense Mutation ALS2 chr2 202622250 202622250 C A g.202622250C>A ENST00000264276.6 c.1346G>T p.Ser449Ile missense_variant benign PLC/PRF5 Missense Mutation CRYGC chr2 208993196 208993196 C A g.208993196C>A ENST00000282141.3 c.256G>T p.Val86Phe missense_variant benign PLC/PRF5 Missense Mutation UNC80 chr2 210737583 210737583 C A g.210737583C>A ENST00000439458.1 c.3735C>A p.His1245Gln missense_variant possibly damaging PLC/PRF5 Missense Mutation CXCR1 chr2 219028973 219028973 G T g.219028973G>T ENST00000295683.2 c.962C>A p.Ala321Asp missense_variant probably damaging PLC/PRF5 Missense Mutation VIL1 chr2 219290429 219290429 A T g.219290429A>T ENST00000248444.5 c.242A>T p.Tyr81Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation CDK5R2 chr2 219824637 219824637 G A g.219824637G>A ENST00000302625.4 c.95G>A p.Gly32Glu missense_variant benign PLC/PRF5 Missense Mutation CCDC108 chr2 219894346 219894346 C A g.219894346C>A ENST00000341552.5 c.1429G>T p.Val477Phe missense_variant probably damaging PLC/PRF5 Missense Mutation PTPRN chr2 220166986 220166986 G C g.220166986G>C ENST00000295718.2 c.867C>G p.Ser289Arg missense_variant benign PLC/PRF5 Missense Mutation DES chr2 220283750 220283750 G T g.220283750G>T ENST00000373960.3 c.566G>T p.Arg189Leu missense_variant benign PLC/PRF5 Missense Mutation SPEG chr2 220316371 220316371 C A g.220316371C>A ENST00000312358.7 c.2282C>A p.Ala761Glu missense_variant benign PLC/PRF5 Missense Mutation SPEG chr2 220337669 220337669 C T g.220337669C>T ENST00000312358.7 c.3998C>T p.Thr1333Met missense_variant probably damaging PLC/PRF5 Missense Mutation ASIC4 chr2 220379985 220379985 G A g.220379985G>A ENST00000347842.3 c.920G>A p.Cys307Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation SGPP2 chr2 223289377 223289377 G A g.223289377G>A ENST00000321276.7 c.56G>A p.Arg19His missense_variant probably damaging PLC/PRF5 Missense Mutation SPHKAP chr2 228882901 228882901 G T g.228882901G>T ENST00000344657.5 c.2669C>A p.Ala890Asp missense_variant benign PLC/PRF5 Missense Mutation GIGYF2 chr2 233655877 233655877 G T g.233655877G>T ENST00000373563.4 c.1090G>T p.Val364Phe missense_variant benign PLC/PRF5 Missense Mutation SH3BP4 chr2 235949696 235949696 G A g.235949696G>A ENST00000344528.4 c.283G>A p.Ala95Thr missense_variant probably damaging PLC/PRF5 Missense Mutation COL6A3 chr2 238274589 238274589 C T g.238274589C>T ENST00000295550.4 c.5590G>A p.Ala1864Thr missense_variant benign PLC/PRF5 Missense Mutation HDAC4 chr2 240033320 240033320 C A g.240033320C>A ENST00000345617.3 c.1865G>T p.Gly622Val missense_variant benign PLC/PRF5 Missense Mutation RNPEPL1 chr2 241516298 241516298 C G g.241516298C>G NM_018226.4 c.1775C>G p.Ser592Cys missense_variant probably damaging PLC/PRF5 Missense Mutation AGXT chr2 241816970 241816970 G T g.241816970G>T ENST00000307503.3 c.863G>T p.Trp288Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation PASK chr2 242078148 242078148 C T g.242078148C>T ENST00000234040.4 c.662G>A p.Arg221Gln missense_variant benign PLC/PRF5 Missense Mutation THAP4 chr2 242572799 242572799 C A g.242572799C>A ENST00000407315.1 c.773G>T p.Arg258Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TRAPPC12 chr2 3461398 3461398 G T g.3461398G>T ENST00000324266.5 c.1537G>T p.Ala513Ser missense_variant benign PLC/PRF5 Missense Mutation SOS1 chr2 39249972 39249972 C T g.39249972C>T ENST00000395038.2 c.1597G>A p.Glu533Lys missense_variant probably damaging PLC/PRF5 Missense Mutation MSH2 chr2 47707955 47707955 C T g.47707955C>T ENST00000233146.2 c.2579C>T p.Ser860Leu missense_variant benign PLC/PRF5 Missense Mutation LHCGR chr2 48915537 48915537 T A g.48915537T>A ENST00000294954.7 c.1399A>T p.Thr467Ser missense_variant probably damaging PLC/PRF5 Missense Mutation AFTPH chr2 64796250 64796250 G T g.64796250G>T ENST00000238855.7 c.2112G>T p.Glu704Asp missense_variant probably damaging PLC/PRF5 Missense Mutation CNRIP1 chr2 68546399 68546399 G C g.68546399G>C ENST00000263655.3 c.134C>G p.Ser45Cys missense_variant possibly damaging PLC/PRF5 Missense Mutation PLEK chr2 68620373 68620373 C A g.68620373C>A ENST00000234313.7 c.842C>A p.Ala281Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation C2orf42 chr2 70377547 70377547 G C g.70377547G>C ENST00000264434.2 c.1666C>G p.Arg556Gly missense_variant benign PLC/PRF5 Missense Mutation PCYOX1 chr2 70502729 70502729 G A g.70502729G>A ENST00000264441.5 c.790G>A p.Ala264Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation SFXN5 chr2 73298793 73298793 A T g.73298793A>T ENST00000272433.2 c.42T>A p.Ser14Arg missense_variant benign PLC/PRF5 Missense Mutation RAB11FIP5 chr2 73316114 73316114 G A g.73316114G>A ENST00000258098.6 c.761C>T p.Ser254Leu missense_variant probably damaging PLC/PRF5 Missense Mutation ALMS1 chr2 73717851 73717851 T C g.73717851T>C ENST00000264448.6 c.8762T>C p.I2921T missense_variant probably damaging PLC/PRF5 Missense Mutation DCTN1 chr2 74596469 74596469 C A g.74596469C>A ENST00000361874.3 c.1542G>T p.Gln514His missense_variant probably damaging PLC/PRF5 Missense Mutation WDR54 chr2 74652334 74652334 C G g.74652334C>G ENST00000348227.4 c.768C>G p.Cys256Trp missense_variant possibly damaging PLC/PRF5 Missense Mutation POLR1A chr2 86315757 86315757 C A g.86315757C>A ENST00000263857.6 c.662G>T p.Ser221Ile missense_variant probably damaging PLC/PRF5 Missense Mutation KIF16B chr20 16348206 16348206 A G g.16348206A>G ENST00000408042.1 c.3764T>C p.V1255A missense_variant possibly damaging PLC/PRF5 Missense Mutation SCP2D1 chr20 18794554 18794554 C T g.18794554C>T ENST00000377428.2 c.95C>T p.Ala32Val missense_variant benign PLC/PRF5 Missense Mutation INSM1 chr20 20349578 20349578 C A g.20349578C>A ENST00000310227.1 c.667C>A p.Pro223Thr missense_variant benign PLC/PRF5 Missense Mutation CST2 chr20 23807102 23807102 G A g.23807102G>A ENST00000304725.2 c.196C>T p.Arg66Cys missense_variant possibly damaging PLC/PRF5 Missense Mutation TMEM239 chr20 2797280 2797280 G T g.2797280G>T ENST00000380585.1 c.80G>T p.Trp27Leu missense_variant benign PLC/PRF5 Missense Mutation TMEM239 chr20 2797448 2797448 C T g.2797448C>T ENST00000380585.1 c.248C>T p.Thr83Ile missense_variant probably damaging PLC/PRF5 Missense Mutation REM1 chr20 30065699 30065699 G A g.30065699G>A ENST00000201979.2 c.409G>A p.Glu137Lys missense_variant possibly damaging PLC/PRF5 Missense Mutation BCL2L1 chr20 30309741 30309741 C A g.30309741C>A ENST00000307677.4 c.281G>T p.Gly94Val missense_variant probably damaging PLC/PRF5 Missense Mutation MYLK2 chr20 30419617 30419617 G T g.30419617G>T ENST00000375985.4 c.1536G>T p.Glu512Asp missense_variant benign PLC/PRF5 Missense Mutation SLC4A11 chr20 3210042 3210042 G C g.3210042G>C ENST00000380056.3 c.1847C>G p.Ala616Gly missense_variant benign PLC/PRF5 Missense Mutation CNBD2 chr20 34563917 34563917 C A g.34563917C>A ENST00000349339.1 c.236C>A p.Ala79Glu missense_variant probably damaging PLC/PRF5 Missense Mutation CNBD2 chr20 34572005 34572005 G T g.34572005G>T ENST00000349339.1 c.509G>T p.Ser170Ile missense_variant probably damaging PLC/PRF5 Missense Mutation SLC32A1 chr20 37357203 37357203 G A g.37357203G>A ENST00000217420.1 c.1499G>A p.Gly500Asp missense_variant probably damaging PLC/PRF5 Missense Mutation L3MBTL1 chr20 42143784 42143784 A G g.42143784A>G ENST00000418998.1 c.572A>G p.Gln191Arg missense_variant benign PLC/PRF5 Missense Mutation GTSF1L chr20 42355010 42355010 C T g.42355010C>T ENST00000373003.1 c.325G>A p.Ala109Thr missense_variant benign PLC/PRF5 Missense Mutation SEMG1 chr20 43836503 43836503 G A g.43836503G>A ENST00000244069.6 c.565G>A p.Gly189Arg missense_variant benign PLC/PRF5 Missense Mutation SEMG1 chr20 43836996 43836996 C T g.43836996C>T ENST00000372781.3 c.1058C>T p.Thr353Met missense_variant damaging PLC/PRF5 Missense Mutation SEMG2 chr20 43850703 43850703 C G g.43850703C>G ENST00000372769.3 c.430C>G p.Gln144Glu missense_variant probably damaging PLC/PRF5 Missense Mutation PIGT chr20 44054459 44054459 C T g.44054459C>T ENST00000279036.6 c.1730C>T p.Pro577Leu missense_variant benign PLC/PRF5 Missense Mutation ZSWIM1 chr20 44512511 44512511 G A g.44512511G>A ENST00000372520.1 c.1280G>A p.Ser427Asn missense_variant benign PLC/PRF5 Missense Mutation CDH22 chr20 44845584 44845584 C A g.44845584C>A ENST00000372262.3 c.719G>T p.Arg240Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation KCNB1 chr20 47990130 47990130 C A g.47990130C>A ENST00000371741.4 c.1967G>T p.Ser656Ile missense_variant probably damaging PLC/PRF5 Missense Mutation RNF114 chr20 48558241 48558241 G T g.48558241G>T ENST00000244061.2 c.284G>T p.Arg95Leu missense_variant benign PLC/PRF5 Missense Mutation STX16 chr20 57246283 57246283 G T g.57246283G>T ENST00000361830.3 c.722G>T p.Arg241Leu missense_variant benign PLC/PRF5 Missense Mutation LAMA5 chr20 60903441 60903441 C A g.60903441C>A ENST00000252999.3 c.4508G>T p.Arg1503Leu missense_variant probably damaging PLC/PRF5 Missense Mutation TCFL5 chr20 61492784 61492784 G C g.61492784G>C ENST00000335351.3 c.239C>G p.Ala80Gly missense_variant possibly damaging PLC/PRF5 Missense Mutation ARFRP1 chr20 62338377 62338377 G C g.62338377G>C ENST00000324228.2 c.67C>G p.Leu23Val missense_variant possibly damaging PLC/PRF5 Missense Mutation NCAM2 chr21 22881295 22881295 G T g.22881295G>T ENST00000400546.1 c.2201G>T p.Cys734Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation URB1 chr21 33719771 33719771 C T g.33719771C>T ENST00000382751.3 c.3362G>A p.Arg1121His missense_variant benign PLC/PRF5 Missense Mutation URB1 chr21 33744832 33744832 A C g.33744832A>C ENST00000382751.3 c.985T>G p.Leu329Val missense_variant possibly damaging PLC/PRF5 Missense Mutation SYNJ1 chr21 34003892 34003892 T C g.34003892T>C ENST00000322229.7 c.4135A>G p.Ile1379Val missense_variant benign PLC/PRF5 Missense Mutation PAXBP1 chr21 34120989 34120989 C T g.34120989C>T ENST00000290178.4 c.1744G>A p.Gly582Ser missense_variant benign PLC/PRF5 Missense Mutation C21orf62 chr21 34166297 34166297 C T g.34166297C>T ENST00000479548.1 c.436G>A p.Gly146Arg missense_variant benign PLC/PRF5 Missense Mutation SON chr21 34922610 34922610 C T g.34922610C>T ENST00000290239.6 c.1073C>T p.Pro358Leu missense_variant probably damaging PLC/PRF5 Missense Mutation SON chr21 34925805 34925805 C A g.34925805C>A ENST00000290239.6 c.4268C>A p.Ala1423Glu missense_variant possibly damaging PLC/PRF5 Missense Mutation SLC5A3 chr21 35468701 35468701 G T g.35468701G>T ENST00000381151.3 c.1204G>T p.Ala402Ser missense_variant probably damaging PLC/PRF5 Missense Mutation RUNX1 chr21 36164748 36164748 C A g.36164748C>A ENST00000344691.4 c.1046G>T p.Arg349Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation SLC37A1 chr21 43955644 43955644 G A g.43955644G>A ENST00000352133.2 c.334G>A p.Val112Met missense_variant possibly damaging PLC/PRF5 Missense Mutation WDR4 chr21 44270267 44270267 C G g.44270267C>G ENST00000330317.2 c.1131G>C p.Glu377Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation NDUFV3 chr21 44323957 44323957 A G g.44323957A>G ENST00000354250.2 c.835A>G p.Lys279Glu missense_variant possibly damaging PLC/PRF5 Missense Mutation POFUT2 chr21 46703395 46703395 C A g.46703395C>A ENST00000331343.7 c.430G>T p.Ala144Ser missense_variant benign PLC/PRF5 Missense Mutation COL18A1 chr21 46931088 46931088 G A g.46931088G>A ENST00000359759.4 c.5002G>A p.G1668R missense_variant probably damaging PLC/PRF5 Missense Mutation CDC45 chr22 19471427 19471427 G A g.19471427G>A ENST00000263201.1 c.385G>A p.Ala129Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation TXNRD2 chr22 19906405 19906405 C A g.19906405C>A ENST00000334363.9 c.352G>T p.Ala118Ser missense_variant benign PLC/PRF5 Missense Mutation ARVCF chr22 19961277 19961277 C A g.19961277C>A ENST00000263207.3 c.2128G>T p.Gly710Trp missense_variant probably damaging PLC/PRF5 Missense Mutation CCDC116 chr22 21990974 21990974 G T g.21990974G>T ENST00000292779.3 c.1457G>T p.Arg486Leu missense_variant benign PLC/PRF5 Missense Mutation SLC2A11 chr22 24204331 24204331 G T g.24204331G>T ENST00000255830.3 c.62G>T p.Gly21Val missense_variant,NMD_transcript_variant probably damaging PLC/PRF5 Missense Mutation SEZ6L chr22 26688651 26688651 T A g.26688651T>A ENST00000248933.6 c.374T>A p.Val125Glu missense_variant possibly damaging PLC/PRF5 Missense Mutation GAS2L1 chr22 29707615 29707615 C T g.29707615C>T ENST00000403764.1 c.1174C>T p.P392S missense_variant benign PLC/PRF5 Missense Mutation AP1B1 chr22 29735059 29735059 T A g.29735059T>A ENST00000357586.2 c.2083A>T p.Ile695Phe missense_variant benign PLC/PRF5 Missense Mutation RFPL1 chr22 29837963 29837963 C G g.29837963C>G ENST00000354373.2 c.806C>G p.Thr269Arg missense_variant probably damaging PLC/PRF5 Missense Mutation NEFH chr22 29879382 29879382 C T g.29879382C>T ENST00000310624.6 c.902C>T p.Ser301Leu missense_variant probably damaging PLC/PRF5 Missense Mutation THOC5 chr22 29917056 29917056 C A g.29917056C>A ENST00000397871.1 c.1208G>T p.Cys403Phe missense_variant probably damaging PLC/PRF5 Missense Mutation PES1 chr22 30974977 30974977 C G g.30974977C>G ENST00000354694.7 c.1530G>C p.Arg510Ser missense_variant benign PLC/PRF5 Missense Mutation FOXRED2 chr22 36902286 36902286 C A g.36902286C>A ENST00000216187.6 c.184G>T p.Ala62Ser missense_variant benign PLC/PRF5 Missense Mutation CSF2RB chr22 37325703 37325703 A G g.37325703A>G ENST00000262825.5 c.572A>G p.Asn191Ser missense_variant benign PLC/PRF5 Missense Mutation CACNA1I chr22 40055019 40055019 G T g.40055019G>T ENST00000401624.1 c.2228G>T p.Arg743Leu missense_variant probably damaging PLC/PRF5 Missense Mutation GRAP2 chr22 40356138 40356138 G T g.40356138G>T ENST00000344138.4 c.250G>T p.Ala84Ser missense_variant benign PLC/PRF5 Missense Mutation ZBED4 chr22 50279181 50279181 C T g.50279181C>T ENST00000216268.5 c.1871C>T p.Ser624Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation IMPG2 chr3 100963302 100963302 C G g.100963302C>G ENST00000193391.7 c.1873G>C p.Ala625Pro missense_variant benign PLC/PRF5 Missense Mutation MYH15 chr3 108127187 108127187 C A g.108127187C>A ENST00000273353.3 c.4620G>T p.Lys1540Asn missense_variant probably damaging PLC/PRF5 Missense Mutation DPPA2 chr3 109023481 109023481 G A g.109023481G>A ENST00000478945.1 c.695C>T p.Ser232Leu missense_variant benign PLC/PRF5 Missense Mutation DPPA4 chr3 109047816 109047816 C A g.109047816C>A ENST00000335658.6 c.799G>T p.Ala267Ser missense_variant probably damaging PLC/PRF5 Missense Mutation CD200 chr3 112063854 112063854 C A g.112063854C>A ENST00000315711.8 c.140C>A p.Ala47Asp missense_variant probably damaging PLC/PRF5 Missense Mutation SIDT1 chr3 113327011 113327011 C T g.113327011C>T ENST00000264852.4 c.1549C>T p.Arg517Cys missense_variant benign PLC/PRF5 Missense Mutation GPR156 chr3 119886768 119886768 C T g.119886768C>T ENST00000315843.3 c.1556G>A p.Gly519Asp missense_variant benign PLC/PRF5 Missense Mutation MYLK chr3 123426623 123426623 C G g.123426623C>G ENST00000359169.1 c.2368G>C p.Gly790Arg missense_variant probably damaging PLC/PRF5 Missense Mutation SLC41A3 chr3 125775244 125775244 C A g.125775244C>A ENST00000383598.2 c.152G>T p.Gly51Val missense_variant damaging PLC/PRF5 Missense Mutation PLXND1 chr3 129284353 129284353 C T g.129284353C>T ENST00000324093.4 c.4351G>A p.Ala1451Thr missense_variant probably damaging PLC/PRF5 Missense Mutation PLXND1 chr3 129292504 129292504 C T g.129292504C>T ENST00000324093.4 c.2770G>A p.Ala924Thr missense_variant benign PLC/PRF5 Missense Mutation NPHP3 chr3 132400821 132400821 C A g.132400821C>A ENST00000337331.5 c.3926G>T p.Ser1309Ile missense_variant probably damaging PLC/PRF5 Missense Mutation PCCB chr3 135978046 135978046 C G g.135978046C>G ENST00000469217.1 c.401C>G p.Pro134Arg missense_variant unknown PLC/PRF5 Missense Mutation STAG1 chr3 136141337 136141337 T C g.136141337T>C ENST00000236698.5 c.1952A>G p.Gln651Arg missense_variant benign PLC/PRF5 Missense Mutation ESYT3 chr3 138180980 138180980 C A g.138180980C>A ENST00000289135.4 c.847C>A p.Pro283Thr missense_variant probably damaging PLC/PRF5 Missense Mutation ATR chr3 142284966 142284966 T A g.142284966T>A ENST00000350721.4 c.289A>T p.Ile97Phe missense_variant benign PLC/PRF5 Missense Mutation PLS1 chr3 142383090 142383090 G A g.142383090G>A ENST00000337777.3 c.11G>A p.Ser4Asn missense_variant benign PLC/PRF5 Missense Mutation PLOD2 chr3 145791116 145791116 G C g.145791116G>C ENST00000360060.3 c.1638C>G p.Asn546Lys missense_variant benign PLC/PRF5 Missense Mutation PLSCR1 chr3 146243401 146243401 G T g.146243401G>T ENST00000342435.4 c.346C>A p.Leu116Ile missense_variant benign PLC/PRF5 Missense Mutation SERPINI2 chr3 167183290 167183290 T C g.167183290T>C ENST00000264677.4 c.650A>G p.Lys217Arg missense_variant benign PLC/PRF5 Missense Mutation GOLIM4 chr3 167750368 167750368 C A g.167750368C>A ENST00000470487.1 c.1116G>T p.Trp372Cys missense_variant probably damaging PLC/PRF5 Missense Mutation TBL1XR1 chr3 176756171 176756171 C A g.176756171C>A ENST00000430069.1 c.977G>T p.Ser326Ile missense_variant probably damaging PLC/PRF5 Missense Mutation HRG chr3 186392968 186392968 T C g.186392968T>C ENST00000232003.4 c.730T>C p.Phe244Leu missense_variant probably damaging PLC/PRF5 Missense Mutation CCDC50 chr3 191107295 191107295 C G g.191107295C>G ENST00000392455.3 c.805C>G p.Pro269Ala missense_variant benign PLC/PRF5 Missense Mutation MB21D2 chr3 192517085 192517085 T C g.192517085T>C ENST00000392452.2 c.566A>G p.Tyr189Cys missense_variant possibly damaging PLC/PRF5 Missense Mutation TNK2 chr3 195595544 195595544 G A g.195595544G>A ENST00000333602.6 c.1580C>T p.Pro527Leu missense_variant benign PLC/PRF5 Missense Mutation TGFBR2 chr3 30713243 30713243 C G g.30713243C>G ENST00000295754.5 c.568C>G p.Arg190Gly missense_variant probably damaging PLC/PRF5 Missense Mutation IL5RA chr3 3139641 3139641 G T g.3139641G>T ENST00000256452.3 c.622C>A p.Arg208Ser missense_variant benign PLC/PRF5 Missense Mutation GLB1 chr3 33058254 33058254 G C g.33058254G>C ENST00000399402.3 c.1336C>G p.Leu446Val missense_variant possibly damaging PLC/PRF5 Missense Mutation TRANK1 chr3 36940692 36940692 C T g.36940692C>T ENST00000429976.2 c.209G>A p.Arg70His missense_variant damaging PLC/PRF5 Missense Mutation SCN10A chr3 38763835 38763835 C T g.38763835C>T ENST00000449082.2 c.3421G>A p.Val1141Met missense_variant probably damaging PLC/PRF5 Missense Mutation XIRP1 chr3 39225875 39225875 A T g.39225875A>T ENST00000340369.3 c.5062T>A p.Phe1688Ile missense_variant benign PLC/PRF5 Missense Mutation XIRP1 chr3 39228311 39228311 G C g.39228311G>C ENST00000340369.3 c.2626C>G p.Pro876Ala missense_variant benign PLC/PRF5 Missense Mutation CX3CR1 chr3 39307883 39307883 C T g.39307883C>T ENST00000399220.2 c.118G>A p.Val40Ile missense_variant benign PLC/PRF5 Missense Mutation VIPR1 chr3 42573351 42573351 C T g.42573351C>T ENST00000325123.4 c.908C>T p.Thr303Ile missense_variant benign PLC/PRF5 Missense Mutation KLHL40 chr3 42728131 42728131 G T g.42728131G>T ENST00000287777.4 c.1021G>T p.Ala341Ser missense_variant benign PLC/PRF5 Missense Mutation HHATL chr3 42738554 42738554 C A g.42738554C>A ENST00000310417.5 c.949G>T p.Asp317Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation ZNF445 chr3 44492861 44492861 G T g.44492861G>T ENST00000396077.2 c.543C>A p.Asp181Glu missense_variant possibly damaging PLC/PRF5 Missense Mutation ALS2CL chr3 46722817 46722817 T G g.46722817T>G ENST00000318962.4 c.1355A>C p.Gln452Pro missense_variant benign PLC/PRF5 Missense Mutation CACNA2D3 chr3 55043453 55043453 C G g.55043453C>G ENST00000288197.5 c.2858C>G p.Ser953Cys missense_variant benign PLC/PRF5 Missense Mutation PDZRN3 chr3 73433783 73433783 C A g.73433783C>A ENST00000263666.4 c.1934G>T p.Arg645Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation ZNF717 chr3 75786954 75786954 C T g.75786954C>T ENST00000422325.1 c.1820G>A p.Gly607Glu missense_variant benign PLC/PRF5 Missense Mutation EPHA3 chr3 89176398 89176398 G T g.89176398G>T ENST00000336596.2 c.128G>T p.Gly43Val missense_variant probably damaging PLC/PRF5 Missense Mutation ARPC4 chr3 9841972 9841972 G T g.9841972G>T ENST00000397261.3 c.226G>T p.Val76Leu missense_variant benign PLC/PRF5 Missense Mutation ADH4 chr4 100062706 100062706 G A g.100062706G>A ENST00000265512.7 c.248C>T p.Thr83Ile missense_variant possibly damaging PLC/PRF5 Missense Mutation ADH1B chr4 100237075 100237075 A G g.100237075A>G ENST00000305046.8 c.547T>C p.Ser183Pro missense_variant benign PLC/PRF5 Missense Mutation C4orf17 chr4 100434323 100434323 G A g.100434323G>A ENST00000326581.4 c.85G>A p.Val29Ile missense_variant probably damaging PLC/PRF5 Missense Mutation PRSS12 chr4 119216159 119216159 C A g.119216159C>A ENST00000296498.3 c.1974G>T p.Arg658Ser missense_variant benign PLC/PRF5 Missense Mutation INTU chr4 128628092 128628092 G A g.128628092G>A ENST00000335251.6 c.2239G>A p.Asp747Asn missense_variant benign PLC/PRF5 Missense Mutation PCDH10 chr4 134071559 134071559 C G g.134071559C>G ENST00000264360.5 c.264C>G p.Ser88Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation PCDH10 chr4 134073832 134073832 C G g.134073832C>G ENST00000264360.5 c.2537C>G p.Thr846Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation FREM3 chr4 144542196 144542196 G A g.144542196G>A ENST00000329798.5 c.5773C>T p.Arg1925Cys missense_variant damaging PLC/PRF5 Missense Mutation DCHS2 chr4 155156286 155156286 C A g.155156286C>A ENST00000357232.4 c.8153G>T p.Cys2718Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation FAM218A chr4 165878243 165878243 C A g.165878243C>A ENST00000513876.2 c.69C>A p.Ser23Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation FAM184B chr4 17710610 17710610 C T g.17710610C>T ENST00000265018.3 c.799G>A p.Ala267Thr missense_variant probably damaging PLC/PRF5 Missense Mutation TENM3 chr4 183676313 183676313 T C g.183676313T>C ENST00000406950.2 c.4793T>C p.Met1598Thr missense_variant benign PLC/PRF5 Missense Mutation STOX2 chr4 184938417 184938417 G T g.184938417G>T ENST00000308497.4 c.2761G>T p.Ala921Ser missense_variant probably damaging PLC/PRF5 Missense Mutation FAT1 chr4 187510102 187510102 C T g.187510102C>T ENST00000441802.2 c.13411G>A p.Ala4471Thr missense_variant benign PLC/PRF5 Missense Mutation FAT1 chr4 187519259 187519259 C A g.187519259C>A ENST00000441802.2 c.12124G>T p.Ala4042Ser missense_variant benign PLC/PRF5 Missense Mutation FAT1 chr4 187628851 187628851 C T g.187628851C>T ENST00000441802.2 c.2131G>A p.Ala711Thr missense_variant benign PLC/PRF5 Missense Mutation SEPSECS chr4 25157814 25157814 A G g.25157814A>G ENST00000382103.2 c.392T>C p.Val131Ala missense_variant possibly damaging PLC/PRF5 Missense Mutation KIAA1239 chr4 37447474 37447474 G T g.37447474G>T ENST00000309447.5 c.3864G>T p.Met1288Ile missense_variant benign PLC/PRF5 Missense Mutation KIAA1239 chr4 37448157 37448157 G A g.37448157G>A ENST00000309447.5 c.4547G>A p.Arg1516His missense_variant probably damaging PLC/PRF5 Missense Mutation GABRA2 chr4 46305544 46305544 C T g.46305544C>T ENST00000356504.1 c.789G>A p.Met263Ile missense_variant probably damaging PLC/PRF5 Missense Mutation USP46 chr4 53494164 53494164 C T g.53494164C>T ENST00000441222.3 c.284G>A p.Gly95Asp missense_variant probably damaging PLC/PRF5 Missense Mutation KDR chr4 55973991 55973991 G T g.55973991G>T ENST00000263923.4 c.1325C>A p.Thr442Lys missense_variant possibly damaging PLC/PRF5 Missense Mutation NOA1 chr4 57843186 57843186 C G g.57843186C>G ENST00000264230.4 c.566G>C p.Arg189Pro missense_variant probably damaging PLC/PRF5 Missense Mutation CDKL2 chr4 76551100 76551100 C T g.76551100C>T ENST00000307465.4 c.73G>A p.Asp25Asn missense_variant benign PLC/PRF5 Missense Mutation SHROOM3 chr4 77661368 77661368 G T g.77661368G>T ENST00000296043.6 c.2042G>T p.Gly681Val missense_variant benign PLC/PRF5 Missense Mutation SOWAHB chr4 77817666 77817666 C A g.77817666C>A ENST00000334306.2 c.1337G>T p.Arg446Leu missense_variant benign PLC/PRF5 Missense Mutation FRAS1 chr4 79188080 79188080 A T g.79188080A>T ENST00000264895.6 c.780A>T p.Arg260Ser missense_variant benign PLC/PRF5 Missense Mutation GK2 chr4 80329168 80329168 A T g.80329168A>T ENST00000358842.3 c.187T>A p.Ser63Thr missense_variant benign PLC/PRF5 Missense Mutation NKX6-1 chr4 85419155 85419155 G A g.85419155G>A ENST00000295886.4 c.227C>T p.Ala76Val missense_variant benign PLC/PRF5 Missense Mutation CPZ chr4 8607838 8607838 C G g.8607838C>G ENST00000360986.4 c.832C>G p.Arg278Gly missense_variant possibly damaging PLC/PRF5 Missense Mutation MEPE chr4 88766909 88766909 G C g.88766909G>C ENST00000361056.3 c.889G>C p.Asp297His missense_variant probably damaging PLC/PRF5 Missense Mutation ABCG2 chr4 89061060 89061060 C A g.89061060C>A ENST00000237612.3 c.88G>T p.Ala30Ser missense_variant benign PLC/PRF5 Missense Mutation FAM13A chr4 89708909 89708909 T A g.89708909T>A ENST00000264344.5 c.1266A>T p.Arg422Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation CCSER1 chr4 91230424 91230424 G T g.91230424G>T ENST00000333691.8 c.989G>T p.Cys330Phe missense_variant benign PLC/PRF5 Missense Mutation MAN2A1 chr5 109091068 109091068 G T g.109091068G>T ENST00000261483.4 c.746G>T p.Gly249Val missense_variant probably damaging PLC/PRF5 Missense Mutation EPB41L4A-AS2 chr5 111755681 111755681 C A g.111755681C>A ENST00000600409.1 c.387C>A p.S129R missense_variant benign PLC/PRF5 Missense Mutation AQPEP chr5 115319105 115319105 C T g.115319105C>T ENST00000357872.4 c.817C>T p.L273F missense_variant probably damaging PLC/PRF5 Missense Mutation HSD17B4 chr5 118810120 118810120 T C g.118810120T>C ENST00000256216.6 c.245T>C p.Val82Ala missense_variant benign PLC/PRF5 Missense Mutation P4HA2 chr5 131545991 131545991 C A g.131545991C>A ENST00000166534.4 c.695G>T p.Arg232Leu missense_variant benign PLC/PRF5 Missense Mutation DNAH5 chr5 13701436 13701436 G A g.13701436G>A ENST00000265104.4 c.13448C>T p.Thr4483Met missense_variant probably damaging PLC/PRF5 Missense Mutation ANKHD1-EIF4EBP3 chr5 139828814 139828814 G A g.139828814G>A ENST00000297183.6 c.1166G>A p.Arg389His missense_variant probably damaging PLC/PRF5 Missense Mutation PCDHB16 chr5 140563195 140563195 G C g.140563195G>C ENST00000361016.2 c.1061G>C p.Ser354Thr missense_variant benign PLC/PRF5 Missense Mutation PCDHB10 chr5 140574372 140574372 G T g.140574372G>T ENST00000239446.4 c.2247G>T p.Gln749His missense_variant benign PLC/PRF5 Missense Mutation PCDHB14 chr5 140603370 140603370 C A g.140603370C>A ENST00000239449.4 c.293C>A p.Ser98Tyr missense_variant benign PLC/PRF5 Missense Mutation PCDHGA9 chr5 140783993 140783993 G T g.140783993G>T ENST00000573521.1 c.1474G>T p.Ala492Ser missense_variant benign PLC/PRF5 Missense Mutation KIAA0141 chr5 141309171 141309171 G T g.141309171G>T ENST00000194118.4 c.437G>T p.Ser146Ile missense_variant benign PLC/PRF5 Missense Mutation SYNPO chr5 149998230 149998230 G C g.149998230G>C ENST00000394243.1 c.301G>C p.Asp101His missense_variant benign PLC/PRF5 Missense Mutation LARP1 chr5 154173507 154173507 G T g.154173507G>T ENST00000336314.4 c.785G>T p.Gly262Val missense_variant probably damaging PLC/PRF5 Missense Mutation MRPL22 chr5 154346333 154346333 G T g.154346333G>T ENST00000523037.1 c.497G>T p.Cys166Phe missense_variant probably damaging PLC/PRF5 Missense Mutation GABRB2 chr5 160753407 160753407 G A g.160753407G>A ENST00000274547.2 c.1159C>T p.Arg387Trp missense_variant benign PLC/PRF5 Missense Mutation PLEKHG4B chr5 161902 161902 C A g.161902C>A ENST00000283426.6 c.1424C>A p.Ser475Tyr missense_variant benign PLC/PRF5 Missense Mutation MYO10 chr5 16701364 16701364 G T g.16701364G>T ENST00000513610.1 c.3140C>A p.Ala1047Glu missense_variant benign PLC/PRF5 Missense Mutation TLX3 chr5 170737171 170737171 C T g.170737171C>T ENST00000296921.5 c.439C>T p.Pro147Ser missense_variant probably damaging PLC/PRF5 Missense Mutation ZFP62 chr5 180276650 180276650 C A g.180276650C>A ENST00000502412.1 c.1845G>T p.Lys615Asn missense_variant possibly damaging PLC/PRF5 Missense Mutation CDH6 chr5 31323196 31323196 A T g.31323196A>T ENST00000265071.2 c.2154A>T p.Gln718His missense_variant possibly damaging PLC/PRF5 Missense Mutation SLC45A2 chr5 33984667 33984667 C G g.33984667C>G ENST00000296589.4 c.22G>C p.Ala8Pro missense_variant benign PLC/PRF5 Missense Mutation DAB2 chr5 39383255 39383255 G T g.39383255G>T ENST00000320816.6 c.806C>A p.Thr269Lys missense_variant benign PLC/PRF5 Missense Mutation SGTB chr5 65016573 65016573 A G g.65016573A>G ENST00000381007.4 c.62T>C p.Met21Thr missense_variant benign PLC/PRF5 Missense Mutation MAST4 chr5 66461680 66461680 A G g.66461680A>G ENST00000403625.2 c.6673A>G p.Lys2225Glu missense_variant benign PLC/PRF5 Missense Mutation EDIL3 chr5 83433086 83433086 C T g.83433086C>T ENST00000296591.5 c.442G>A p.Glu148Lys missense_variant probably damaging PLC/PRF5 Missense Mutation CHD1 chr5 98194049 98194049 C A g.98194049C>A ENST00000284049.3 c.4622G>T p.Arg1541Met missense_variant probably damaging PLC/PRF5 Missense Mutation POPDC3 chr6 105609433 105609433 G A g.105609433G>A ENST00000254765.3 c.352C>T p.Pro118Ser missense_variant possibly damaging PLC/PRF5 Missense Mutation TRAPPC3L chr6 116818224 116818224 C A g.116818224C>A ENST00000368602.3 c.439G>T p.Ala147Ser missense_variant probably damaging PLC/PRF5 Missense Mutation TRAPPC3L chr6 116821657 116821657 C T g.116821657C>T ENST00000368602.3 c.413G>A p.Gly138Asp missense_variant probably damaging PLC/PRF5 Missense Mutation KIAA0408 chr6 127775094 127775094 C A g.127775094C>A ENST00000483725.3 c.33G>T p.Glu11Asp missense_variant probably damaging PLC/PRF5 Missense Mutation LAMA2 chr6 129588307 129588307 G C g.129588307G>C ENST00000421865.2 c.2265G>C p.Glu755Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation LAMA2 chr6 129674450 129674450 G T g.129674450G>T ENST00000421865.2 c.4665G>T p.Arg1555Ser missense_variant benign PLC/PRF5 Missense Mutation LAMA2 chr6 129833570 129833570 A T g.129833570A>T ENST00000421865.2 c.8920A>T p.Thr2974Ser missense_variant benign PLC/PRF5 Missense Mutation TAAR8 chr6 132874526 132874526 C G g.132874526C>G ENST00000275200.1 c.695C>G p.Thr232Ser missense_variant benign PLC/PRF5 Missense Mutation PDE7B chr6 136429939 136429939 C A g.136429939C>A ENST00000308191.6 c.153C>A p.Phe51Leu missense_variant benign PLC/PRF5 Missense Mutation UTRN chr6 145157523 145157523 C G g.145157523C>G ENST00000367545.3 c.9911C>G p.Ser3304Cys missense_variant probably damaging PLC/PRF5 Missense Mutation SYNE1 chr6 152674534 152674534 C A g.152674534C>A ENST00000265368.4 c.11117G>T p.Ser3706Ile missense_variant benign PLC/PRF5 Missense Mutation FAM8A1 chr6 17601326 17601326 G T g.17601326G>T ENST00000259963.3 c.686G>T p.Ser229Ile missense_variant benign PLC/PRF5 Missense Mutation GPLD1 chr6 24450120 24450120 C A g.24450120C>A ENST00000230036.1 c.1343G>T p.Gly448Val missense_variant probably damaging PLC/PRF5 Missense Mutation HIST1H4E chr6 26205177 26205177 G T g.26205177G>T ENST00000360441.4 c.305G>T p.Gly102Val missense_variant probably damaging PLC/PRF5 Missense Mutation BTN3A3 chr6 26452103 26452103 T C g.26452103T>C ENST00000244519.2 c.1219T>C p.Trp407Arg missense_variant probably damaging PLC/PRF5 Missense Mutation HIST1H2AL chr6 27833137 27833137 C T g.27833137C>T ENST00000357320.2 c.5C>T p.Ser2Leu missense_variant benign PLC/PRF5 Missense Mutation MUC22 chr6 31002672 31002672 G T g.31002672G>T ENST00000561890.1 c.5279G>T p.Gly1760Val missense_variant unknown PLC/PRF5 Missense Mutation PNPLA1 chr6 36270039 36270039 C A g.36270039C>A ENST00000394571.2 c.1177C>A p.Pro393Thr missense_variant benign PLC/PRF5 Missense Mutation DNAH8 chr6 38980374 38980374 C A g.38980374C>A ENST00000359357.3 c.13024C>A p.P4342T missense_variant probably damaging PLC/PRF5 Missense Mutation KIF6 chr6 39682502 39682502 C T g.39682502C>T ENST00000287152.7 c.217G>A p.Val73Ile missense_variant benign PLC/PRF5 Missense Mutation ABCC10 chr6 43400824 43400824 A G g.43400824A>G ENST00000372530.4 c.1106A>G p.Gln369Arg missense_variant benign PLC/PRF5 Missense Mutation ABCC10 chr6 43411739 43411739 T C g.43411739T>C ENST00000372530.4 c.2485T>C p.Ser829Pro missense_variant benign PLC/PRF5 Missense Mutation MCM3 chr6 52144285 52144285 C T g.52144285C>T ENST00000229854.7 c.644G>A p.Arg215His missense_variant probably damaging PLC/PRF5 Missense Mutation DST chr6 56342226 56342226 C T g.56342226C>T ENST00000244364.6 c.13723G>A p.Asp4575Asn missense_variant possibly damaging PLC/PRF5 Missense Mutation EYS chr6 65300230 65300230 G T g.65300230G>T ENST00000370616.2 c.5530C>A p.Pro1844Thr missense_variant benign PLC/PRF5 Missense Mutation RIMS1 chr6 72889500 72889500 G A g.72889500G>A ENST00000264839.7 c.694G>A p.Ala232Thr missense_variant benign PLC/PRF5 Missense Mutation DDX43 chr6 74110015 74110015 C A g.74110015C>A ENST00000370336.4 c.365C>A p.Thr122Lys missense_variant benign PLC/PRF5 Missense Mutation COL12A1 chr6 75893203 75893203 C A g.75893203C>A ENST00000322507.8 c.1454G>T p.Ser485Ile missense_variant probably damaging PLC/PRF5 Missense Mutation TXNDC5 chr6 7899894 7899894 C A g.7899894C>A ENST00000379757.4 c.434G>T p.Gly145Val missense_variant probably damaging PLC/PRF5 Missense Mutation DOPEY1 chr6 83838757 83838757 A T g.83838757A>T ENST00000349129.2 c.1871A>T p.Gln624Leu missense_variant benign PLC/PRF5 Missense Mutation PM20D2 chr6 89859120 89859120 T C g.89859120T>C ENST00000275072.4 c.602T>C p.Met201Thr missense_variant benign PLC/PRF5 Missense Mutation FHL5 chr6 97052652 97052652 G T g.97052652G>T ENST00000326771.2 c.186G>T p.Trp62Cys missense_variant probably damaging PLC/PRF5 Missense Mutation ACTL6B chr7 100244239 100244239 C G g.100244239C>G ENST00000160382.5 c.1048G>C p.Gly350Arg missense_variant probably damaging PLC/PRF5 Missense Mutation EPHB4 chr7 100417380 100417380 G C g.100417380G>C ENST00000358173.3 c.1096C>G p.Pro366Ala missense_variant benign PLC/PRF5 Missense Mutation MUC17 chr7 100681727 100681727 C A g.100681727C>A ENST00000306151.4 c.7030C>A p.Pro2344Thr missense_variant benign PLC/PRF5 Missense Mutation ORAI2 chr7 102079575 102079575 G T g.102079575G>T ENST00000356387.2 c.172G>T p.Ala58Ser missense_variant probably damaging PLC/PRF5 Missense Mutation NDUFA4 chr7 10977771 10977771 C G g.10977771C>G ENST00000339600.5 c.135G>C p.Trp45Cys missense_variant probably damaging PLC/PRF5 Missense Mutation TMEM168 chr7 112424037 112424037 C T g.112424037C>T ENST00000312814.6 c.844G>A p.Ala282Thr missense_variant probably damaging PLC/PRF5 Missense Mutation THSD7A chr7 11582697 11582697 T C g.11582697T>C ENST00000423059.4 c.1501A>G p.Thr501Ala missense_variant benign PLC/PRF5 Missense Mutation CFTR chr7 117171092 117171092 T A g.117171092T>A ENST00000003084.6 c.413T>A p.Leu138Gln missense_variant probably damaging PLC/PRF5 Missense Mutation CFTR chr7 117171094 117171094 C A g.117171094C>A ENST00000003084.6 c.415C>A p.His139Asn missense_variant benign PLC/PRF5 Missense Mutation KCND2 chr7 119914706 119914706 C T g.119914706C>T ENST00000331113.4 c.20C>T p.Ala7Val missense_variant probably damaging PLC/PRF5 Missense Mutation TSPAN12 chr7 120428800 120428800 G A g.120428800G>A ENST00000222747.3 c.764C>T p.Pro255Leu missense_variant possibly damaging PLC/PRF5 Missense Mutation VWDE chr7 12420161 12420161 G A g.12420161G>A ENST00000275358.3 c.740C>T p.Ala247Val missense_variant benign PLC/PRF5 Missense Mutation FLNC chr7 128475625 128475625 C A g.128475625C>A ENST00000325888.8 c.598C>A p.Pro200Thr missense_variant probably damaging PLC/PRF5 Missense Mutation GRIP2 chr3 14549069 14549069 G C g.14549069G>C XM_005265500.1 c.2512C>G p.R838G (Splice) missense_variant,splice_region_variant benign PLC/PRF5 Missense Mutation CPA2 chr7 129929507 129929507 C A g.129929507C>A ENST00000222481.4 c.1180C>A p.Arg394Ser missense_variant benign PLC/PRF5 Missense Mutation PODXL chr7 131241100 131241100 G T g.131241100G>T ENST00000322985.9 c.19C>A p.Leu7Ile missense_variant probably damaging PLC/PRF5 Missense Mutation PLXNA4 chr7 131878906 131878906 C G g.131878906C>G ENST00000321063.4 c.2771G>C p.Ser924Thr missense_variant benign PLC/PRF5 Missense Mutation AGK chr7 141341064 141341064 A C g.141341064A>C ENST00000355413.4 c.743A>C p.His248Pro missense_variant probably damaging PLC/PRF5 Missense Mutation GIMAP1-GIMAP5 chr7 150434735 150434735 G C g.150434735G>C NM_001199577.1 c.545G>C p.Gly182Ala missense_variant NA PLC/PRF5 Missense Mutation DPP6 chr7 154667621 154667621 G T g.154667621G>T ENST00000377770.3 c.1889G>T p.Gly630Val missense_variant probably damaging PLC/PRF5 Missense Mutation DNAJB6 chr7 157177651 157177651 C T g.157177651C>T ENST00000262177.4 c.569C>T p.Ser190Leu missense_variant probably damaging PLC/PRF5 Missense Mutation HDAC9 chr7 19015560 19015560 G T g.19015560G>T ENST00000441542.2 c.3154G>T p.Ala1052Ser missense_variant benign PLC/PRF5 Missense Mutation ABCB5 chr7 20698164 20698164 A C g.20698164A>C ENST00000404938.2 c.1572A>C p.Gln524His missense_variant possibly damaging PLC/PRF5 Missense Mutation TTYH3 chr7 2686870 2686870 G C g.2686870G>C ENST00000258796.7 c.388G>C p.Ala130Pro missense_variant probably damaging PLC/PRF5 Missense Mutation HOXA6 chr7 27186965 27186965 G A g.27186965G>A ENST00000222728.3 c.404C>T p.Pro135Leu missense_variant probably damaging PLC/PRF5 Missense Mutation GNA12 chr7 2834682 2834682 C A g.2834682C>A ENST00000275364.3 c.405G>T p.Glu135Asp missense_variant benign PLC/PRF5 Missense Mutation CPVL chr7 29152332 29152332 G T g.29152332G>T ENST00000265394.5 c.276C>A p.Phe92Leu missense_variant probably damaging PLC/PRF5 Missense Mutation SDK1 chr7 4189073 4189073 G A g.4189073G>A ENST00000389531.3 c.4603G>A p.Ala1535Thr missense_variant benign PLC/PRF5 Missense Mutation URGCP chr7 43916738 43916738 G A g.43916738G>A ENST00000453200.1 c.2324C>T p.Ala775Val missense_variant probably damaging PLC/PRF5 Missense Mutation TNRC18 chr7 5410501 5410501 C A g.5410501C>A ENST00000399537.4 c.3724G>T p.Ala1242Ser missense_variant benign PLC/PRF5 Missense Mutation PRKAR1B chr7 716921 716921 C G g.716921C>G ENST00000360274.4 c.385G>C p.Ala129Pro missense_variant possibly damaging PLC/PRF5 Missense Mutation TRIM50 chr7 72732903 72732903 G T g.72732903G>T ENST00000333149.2 c.644C>A p.Ala215Asp missense_variant probably damaging PLC/PRF5 Missense Mutation MLXIPL chr7 73020269 73020269 G T g.73020269G>T ENST00000313375.3 c.791C>A p.Pro264His missense_variant possibly damaging PLC/PRF5 Missense Mutation WBSCR28 chr7 73279531 73279531 G T g.73279531G>T ENST00000320531.2 c.281G>T p.Gly94Val missense_variant benign PLC/PRF5 Missense Mutation PCLO chr7 82583178 82583178 C A g.82583178C>A ENST00000333891.9 c.7091G>T p.Gly2364Val missense_variant benign PLC/PRF5 Missense Mutation PCLO chr7 82583179 82583179 C T g.82583179C>T ENST00000333891.9 c.7090G>A p.Gly2364Arg missense_variant benign PLC/PRF5 Missense Mutation PCLO chr7 82784255 82784255 G T g.82784255G>T ENST00000333891.9 c.1702C>A p.Gln568Lys missense_variant benign PLC/PRF5 Missense Mutation STEAP2 chr7 89856609 89856609 G A g.89856609G>A ENST00000287908.3 c.817G>A p.Ala273Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation LRRD1 chr7 91788465 91788465 T C g.91788465T>C ENST00000430130.2 c.1970A>G p.Asp657Gly missense_variant probably damaging PLC/PRF5 Missense Mutation C8orf74 chr8 10557950 10557950 G C g.10557950G>C ENST00000304519.5 c.854G>C p.Ser285Thr missense_variant benign PLC/PRF5 Missense Mutation TRPS1 chr8 116426903 116426903 C A g.116426903C>A ENST00000395715.3 c.3233G>T p.Gly1078Val missense_variant probably damaging PLC/PRF5 Missense Mutation SLC30A8 chr8 118169975 118169975 C A g.118169975C>A ENST00000456015.2 c.464C>A p.Thr155Asn missense_variant probably damaging PLC/PRF5 Missense Mutation DEPTOR chr8 121021305 121021305 G A g.121021305G>A ENST00000286234.5 c.1034G>A p.Arg345Gln missense_variant probably damaging PLC/PRF5 Missense Mutation PHF20L1 chr8 133816898 133816898 C A g.133816898C>A ENST00000395379.1 c.760C>A p.Gln254Lys missense_variant probably damaging PLC/PRF5 Missense Mutation PHF20L1 chr8 133837604 133837604 T A g.133837604T>A ENST00000395386.2 c.1732T>A p.Ser578Thr missense_variant benign PLC/PRF5 Missense Mutation SLURP1 chr8 143823323 143823323 A T g.143823323A>T ENST00000246515.1 c.76T>A p.Tyr26Asn missense_variant probably damaging PLC/PRF5 Missense Mutation PLEC chr8 145005743 145005743 C T g.145005743C>T ENST00000322810.4 c.2674G>A p.Ala892Thr missense_variant benign PLC/PRF5 Missense Mutation PLEC chr8 145006865 145006865 C T g.145006865C>T ENST00000322810.4 c.2164G>A p.Ala722Thr missense_variant benign PLC/PRF5 Missense Mutation PARP10 chr8 145058847 145058847 C A g.145058847C>A ENST00000313028.7 c.1323G>T p.Glu441Asp missense_variant possibly damaging PLC/PRF5 Missense Mutation NKX2-6 chr8 23560257 23560257 G A g.23560257G>A ENST00000418222.1 c.367C>T p.Pro205Ser missense_variant probably damaging PLC/PRF5 Missense Mutation DPYSL2 chr8 26372098 26372098 G C g.26372098G>C NM_001197293.2 c.257G>C p.Gly86Ala missense_variant benign PLC/PRF5 Missense Mutation INTS9 chr8 28669932 28669932 G T g.28669932G>T ENST00000521022.1 c.656C>A p.Ala219Asp missense_variant benign PLC/PRF5 Missense Mutation KCNU1 chr8 36793268 36793268 C A g.36793268C>A ENST00000399881.3 c.3280C>A p.Pro1094Thr missense_variant benign PLC/PRF5 Missense Mutation EIF4EBP1 chr8 37914748 37914748 C T g.37914748C>T ENST00000338825.4 c.295C>T p.Arg99Cys missense_variant possibly damaging PLC/PRF5 Missense Mutation BAG4 chr8 38065205 38065205 G A g.38065205G>A ENST00000287322.4 c.554G>A p.Arg185His missense_variant probably damaging PLC/PRF5 Missense Mutation PLAT chr8 42046480 42046480 C A g.42046480C>A ENST00000220809.4 c.225G>T p.Arg75Ser missense_variant benign PLC/PRF5 Missense Mutation SLC20A2 chr8 42317494 42317494 T C g.42317494T>C ENST00000342228.3 c.533A>G p.Asn178Ser missense_variant probably damaging PLC/PRF5 Missense Mutation RP1 chr8 55542047 55542047 C T g.55542047C>T ENST00000220676.1 c.5605C>T p.His1869Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation ZFHX4 chr8 77690658 77690658 G T g.77690658G>T ENST00000521891.2 c.3308G>T p.Cys1103Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation PKIA chr8 79510708 79510708 C T g.79510708C>T ENST00000352966.5 c.89C>T p.Ser30Phe missense_variant possibly damaging PLC/PRF5 Missense Mutation GDF6 chr8 97157537 97157537 G A g.97157537G>A ENST00000287020.5 c.622C>T p.Pro208Ser missense_variant benign PLC/PRF5 Missense Mutation ABCA1 chr9 107554237 107554237 C A g.107554237C>A ENST00000374736.3 c.5800G>T p.Val1934Leu missense_variant benign PLC/PRF5 Missense Mutation ACTL7A chr9 111624937 111624937 A G g.111624937A>G ENST00000333999.3 c.335A>G p.Asn112Ser missense_variant benign PLC/PRF5 Missense Mutation FRRS1L chr9 111903743 111903743 A C g.111903743A>C ENST00000561981.2 c.742T>G p.Phe248Val missense_variant probably damaging PLC/PRF5 Missense Mutation CDK5RAP2 chr9 123215778 123215778 C G g.123215778C>G ENST00000349780.4 c.2749G>C p.Gly917Arg missense_variant possibly damaging PLC/PRF5 Missense Mutation OLFML2A chr9 127563861 127563861 G T g.127563861G>T ENST00000373580.3 c.838G>T p.Ala280Ser missense_variant benign PLC/PRF5 Missense Mutation PRRC2B chr9 134305562 134305562 G T g.134305562G>T ENST00000357304.4 c.31G>T p.Gly11Cys missense_variant probably damaging PLC/PRF5 Missense Mutation TSC1 chr9 135786058 135786058 A G g.135786058A>G ENST00000298552.3 c.1163T>C p.Leu388Pro missense_variant probably damaging PLC/PRF5 Missense Mutation GTF3C5 chr9 135906411 135906411 G T g.135906411G>T ENST00000342018.8 c.13G>T p.Ala5Ser missense_variant benign PLC/PRF5 Missense Mutation OLFM1 chr9 138011566 138011566 C A g.138011566C>A ENST00000252854.4 c.946C>A p.Arg316Ser missense_variant probably damaging PLC/PRF5 Missense Mutation KCNT1 chr9 138683694 138683694 C A g.138683694C>A ENST00000263604.3 c.3539C>A p.Pro1180Gln missense_variant probably damaging PLC/PRF5 Missense Mutation C9orf69 chr9 139008583 139008583 C A g.139008583C>A ENST00000561457.1 c.238G>T p.Arg55Leu missense_variant NA PLC/PRF5 Missense Mutation LCN10 chr9 139634458 139634458 A G g.139634458A>G ENST00000497771.1 c.518T>C p.Met173Thr missense_variant possibly damaging PLC/PRF5 Missense Mutation TMEM210 chr9 140065507 140065507 C G g.140065507C>G ENST00000413619.2 c.364G>C p.Glu122Gln missense_variant damaging PLC/PRF5 Missense Mutation SLC34A3 chr9 140126600 140126600 C A g.140126600C>A ENST00000361134.2 c.162C>A p.Ser54Arg missense_variant benign PLC/PRF5 Missense Mutation TOR4A chr9 140174210 140174210 G T g.140174210G>T ENST00000357503.2 c.1069G>T p.Ala357Ser missense_variant benign PLC/PRF5 Missense Mutation EXD3 chr9 140245516 140245516 T C g.140245516T>C ENST00000340951.4 c.1468A>G p.Met490Val missense_variant benign PLC/PRF5 Missense Mutation IFNA5 chr9 21305173 21305173 T C g.21305173T>C ENST00000259555.4 c.83A>G p.Gln28Arg missense_variant benign PLC/PRF5 Missense Mutation IFNA6 chr9 21350423 21350423 G T g.21350423G>T ENST00000380210.1 c.464C>A p.Thr155Lys missense_variant benign PLC/PRF5 Missense Mutation CDKN2A chr9 21971024 21971024 G C g.21971024G>C ENST00000304494.5 c.334C>G p.Arg112Gly missense_variant probably damaging PLC/PRF5 Missense Mutation FBXO10 chr9 37541695 37541695 C A g.37541695C>A ENST00000276960.7 c.71G>T p.Gly24Val missense_variant,NMD_transcript_variant probably damaging PLC/PRF5 Missense Mutation SHB chr9 37948668 37948668 C A g.37948668C>A ENST00000377707.3 c.1310G>T p.Ser437Ile missense_variant probably damaging PLC/PRF5 Missense Mutation ALDH1B1 chr9 38396346 38396346 G A g.38396346G>A ENST00000377698.3 c.601G>A p.Ala201Thr missense_variant probably damaging PLC/PRF5 Missense Mutation SYK chr9 93606347 93606347 C A g.93606347C>A ENST00000375746.1 c.167C>A p.Ala56Asp missense_variant probably damaging PLC/PRF5 Missense Mutation ECM2 chr9 95277224 95277224 C T g.95277224C>T ENST00000344604.5 c.743G>A p.Gly248Glu missense_variant benign PLC/PRF5 Missense Mutation RGAG1 chrX 109694899 109694899 A T g.109694899A>T ENST00000465301.2 c.1054A>T p.Thr352Ser missense_variant benign PLC/PRF5 Missense Mutation ALG13 chrX 110968230 110968230 T C g.110968230T>C ENST00000394780.3 c.1670T>C p.Met557Thr missense_variant damaging PLC/PRF5 Missense Mutation RBMXL3 chrX 114425391 114425391 G A g.114425391G>A ENST00000424776.3 c.1387G>A p.Asp463Asn missense_variant probably damaging PLC/PRF5 Missense Mutation STAG2 chrX 123185001 123185001 G A g.123185001G>A ENST00000218089.9 c.1048G>A p.Ala350Thr missense_variant benign PLC/PRF5 Missense Mutation GPR119 chrX 129518765 129518765 G T g.129518765G>T ENST00000276218.2 c.657C>A p.Ser219Arg missense_variant benign PLC/PRF5 Missense Mutation USP26 chrX 132160736 132160736 C A g.132160736C>A ENST00000370832.1 c.1513G>T p.Val505Phe missense_variant probably damaging PLC/PRF5 Missense Mutation MAGEA4 chrX 151092573 151092573 G T g.151092573G>T ENST00000276344.2 c.437G>T p.Arg146Leu missense_variant benign PLC/PRF5 Missense Mutation U82695.9 chrX 152752176 152752176 C T g.152752176C>T ENST00000428676.1 c.286C>T p.R96W missense_variant NA PLC/PRF5 Missense Mutation PNCK chrX 152937384 152937384 C T g.152937384C>T ENST00000340888.3 c.365G>A p.Gly122Asp missense_variant benign PLC/PRF5 Missense Mutation RENBP chrX 153209152 153209152 C G g.153209152C>G ENST00000393700.3 c.308G>C p.Arg103Pro missense_variant probably damaging PLC/PRF5 Missense Mutation CTPS2 chrX 16685821 16685821 C T g.16685821C>T ENST00000359276.4 c.1216G>A p.Val406Met missense_variant probably damaging PLC/PRF5 Missense Mutation MROH5 chr8 142488725 142488725 G T g.142488725G>T ENST00000430863.1 c.1236C>A p.Ser412Arg missense_variant probably damaging PLC/PRF5 Missense Mutation DCAF8L2 chrX 27765464 27765464 C A g.27765464C>A ENST00000451261.2 c.452C>A p.Ala151Glu missense_variant benign PLC/PRF5 Missense Mutation MAGEB1 chrX 30269409 30269409 C A g.30269409C>A ENST00000378981.3 c.799C>A p.Arg267Ser missense_variant benign PLC/PRF5 Missense Mutation MXRA5 chrX 3235453 3235453 C A g.3235453C>A ENST00000217939.6 c.6269G>T p.Arg2090Leu missense_variant probably damaging PLC/PRF5 Missense Mutation PRKX chrX 3533897 3533897 G A g.3533897G>A ENST00000262848.5 c.910C>T p.Arg304Cys missense_variant probably damaging PLC/PRF5 Missense Mutation CCNB3 chrX 50053706 50053706 A G g.50053706A>G ENST00000276014.7 c.2537A>G p.Lys846Arg missense_variant benign PLC/PRF5 Missense Mutation TSPYL2 chrX 53115297 53115297 G T g.53115297G>T ENST00000375442.4 c.1723G>T p.Asp575Tyr missense_variant probably damaging PLC/PRF5 Missense Mutation TRO chrX 54949435 54949435 C T g.54949435C>T ENST00000173898.7 c.470C>T p.Thr157Ile missense_variant benign PLC/PRF5 Missense Mutation OTUD6A chrX 69283209 69283209 G T g.69283209G>T ENST00000338352.2 c.835G>T p.Ala279Ser missense_variant benign PLC/PRF5 Missense Mutation CYSLTR1 chrX 77528394 77528394 C A g.77528394C>A ENST00000373304.3 c.850G>T p.Ala284Ser missense_variant probably damaging PLC/PRF5 Missense Mutation GPR174 chrX 78427187 78427187 C A g.78427187C>A ENST00000276077.1 c.683C>A p.Ala228Asp missense_variant probably damaging PLC/PRF5 Missense Mutation PCDH19 chrX 99657557 99657557 G T g.99657557G>T ENST00000373034.4 c.2581C>A p.Pro861Thr missense_variant benign HLE Missense Mutation COL11A1 chr1 103488388 103488388 T A g.103488388T>A ENST00000370096.3 c.1155A>T p.Glu385Asp missense_variant benign HLE Missense Mutation LRIG2 chr1 113657444 113657444 A G g.113657444A>G ENST00000361127.5 c.2476A>G p.Ile826Val missense_variant benign HLE Missense Mutation IVL chr1 152883501 152883501 G A g.152883501G>A ENST00000368764.3 c.1228G>A p.Glu410Lys missense_variant benign HLE Missense Mutation ADAR chr1 154573823 154573823 A T g.154573823A>T ENST00000368474.4 c.1295T>A p.Leu432Gln missense_variant possibly damaging HLE Missense Mutation GBA chr1 155205599 155205599 T A g.155205599T>A ENST00000327247.5 c.1261A>T p.Asn421Tyr missense_variant probably damaging HLE Missense Mutation RAB25 chr1 156038092 156038092 G A g.156038092G>A ENST00000361084.5 c.271G>A p.Val91Met missense_variant probably damaging HLE Missense Mutation CD84 chr1 160535251 160535251 T C g.160535251T>C ENST00000311224.4 c.331A>G p.Ile111Val missense_variant possibly damaging HLE Missense Mutation LAMC2 chr1 183200111 183200111 C T g.183200111C>T ENST00000264144.4 c.1730C>T p.Pro577Leu missense_variant probably damaging HLE Missense Mutation LGR6 chr1 202287956 202287956 G A g.202287956G>A ENST00000367278.3 c.2525G>A p.Arg842Gln missense_variant possibly damaging HLE Missense Mutation OBSCN chr1 228468098 228468098 C T g.228468098C>T ENST00000284548.11 c.7882C>T p.Arg2628Cys missense_variant benign HLE Missense Mutation KDM1A chr1 23346231 23346231 G T g.23346231G>T ENST00000356634.3 c.142G>T p.Ala48Ser missense_variant benign HLE Missense Mutation MAN1C1 chr1 26098153 26098153 G A g.26098153G>A ENST00000374332.4 c.1147G>A p.Val383Ile missense_variant benign HLE Missense Mutation ZSCAN20 chr1 33957092 33957092 C T g.33957092C>T ENST00000361328.3 c.1234C>T p.Arg412Trp missense_variant probably damaging HLE Missense Mutation MACF1 chr1 39818694 39818694 G A g.39818694G>A ENST00000317713.7 c.5029G>A p.Glu1677Lys missense_variant probably damaging HLE Missense Mutation SZT2 chr1 43897471 43897471 G A g.43897471G>A ENST00000562955.1 c.5002G>A p.Ala1668Thr missense_variant benign HLE Missense Mutation FAM151A chr1 55078184 55078184 T G g.55078184T>G ENST00000302250.2 c.775A>C p.Ser259Arg missense_variant probably damaging HLE Missense Mutation TNNI3K chr1 74905204 74905204 A T g.74905204A>T ENST00000326637.3 c.1909A>T p.Thr738Ser missense_variant benign HLE Missense Mutation KIAA1107 chr1 92649681 92649681 G A g.92649681G>A ENST00000370378.4 c.3859G>A p.Ala1287Thr missense_variant probably damaging HLE Missense Mutation AGRN chr1 976885 976885 C A g.976885C>A ENST00000379370.2 c.980C>A p.Pro327Gln missense_variant benign HLE Missense Mutation ZDHHC6 chr10 114200390 114200390 T C g.114200390T>C ENST00000369405.3 c.583A>G p.Ile195Val missense_variant benign HLE Missense Mutation DCLRE1A chr10 115608842 115608842 T A g.115608842T>A ENST00000361384.2 c.2022A>T p.Lys674Asn missense_variant benign HLE Missense Mutation ATRNL1 chr10 117045734 117045734 T A g.117045734T>A ENST00000355044.3 c.2242T>A p.Cys748Ser missense_variant benign HLE Missense Mutation TRPC6 chr11 101347173 101347173 C A g.101347173C>A ENST00000344327.3 c.1603G>T p.Ala535Ser missense_variant probably damaging HLE Missense Mutation GRIA4 chr11 105732906 105732906 T C g.105732906T>C ENST00000282499.5 c.644T>C p.Ile215Thr missense_variant benign HLE Missense Mutation ZC3H12C chr11 110035868 110035868 A C g.110035868A>C ENST00000278590.3 c.2058A>C p.Arg686Ser missense_variant probably damaging HLE Missense Mutation BUD13 chr11 116633322 116633322 C T g.116633322C>T ENST00000260210.4 c.983G>A p.Arg328Gln missense_variant benign HLE Missense Mutation KMT2A chr11 118362596 118362596 G A g.118362596G>A ENST00000389506.5 c.4948G>A p.Ala1650Thr missense_variant probably damaging HLE Missense Mutation ABCG4 chr11 119031311 119031311 A G g.119031311A>G ENST00000307417.3 c.1660A>G p.Ser554Gly missense_variant benign HLE Missense Mutation USP47 chr11 11964077 11964077 G A g.11964077G>A ENST00000339865.5 c.2305G>A p.Glu769Lys missense_variant benign HLE Missense Mutation SORL1 chr11 121490622 121490622 A C g.121490622A>C ENST00000260197.7 c.5885A>C p.Asp1962Ala missense_variant possibly damaging HLE Missense Mutation OR8G5 chr11 124134985 124134985 C T g.124134985C>T ENST00000524943.2 c.263C>T p.Ser88Phe missense_variant damaging HLE Missense Mutation DCPS chr11 126215482 126215482 C T g.126215482C>T ENST00000263579.4 c.988C>T p.Leu330Phe missense_variant probably damaging HLE Missense Mutation KIRREL3 chr11 126301231 126301231 C A g.126301231C>A ENST00000525704.2 c.1779G>T p.Gln593His missense_variant damaging HLE Missense Mutation ARHGAP32 chr11 128840937 128840937 C G g.128840937C>G ENST00000310343.9 c.4129G>C p.Ala1377Pro missense_variant possibly damaging HLE Missense Mutation OTOG chr11 17657204 17657204 G A g.17657204G>A ENST00000399397.1 c.7558G>A p.Ala2593Thr missense_variant possibly damaging HLE Missense Mutation SAAL1 chr11 18110922 18110922 A G g.18110922A>G ENST00000300013.4 c.725T>C p.Val242Ala missense_variant benign HLE Missense Mutation MRGPRX2 chr11 19077769 19077769 T C g.19077769T>C ENST00000329773.2 c.181A>G p.Arg61Gly missense_variant probably damaging HLE Missense Mutation E2F8 chr11 19246829 19246829 G A g.19246829G>A ENST00000250024.4 c.2360C>T p.Ser787Leu missense_variant benign HLE Missense Mutation RRM1 chr11 4159464 4159464 G A g.4159464G>A ENST00000300738.5 c.2230G>A p.Ala744Thr missense_variant possibly damaging HLE Missense Mutation OR52M1 chr11 4566661 4566661 C T g.4566661C>T ENST00000360213.1 c.241C>T p.Pro81Ser missense_variant probably damaging HLE Missense Mutation CCDC86 chr11 60615444 60615444 G A g.60615444G>A ENST00000227520.5 c.806G>A p.Arg269Gln missense_variant benign HLE Missense Mutation CD6 chr11 60776290 60776290 A G g.60776290A>G ENST00000313421.7 c.754A>G p.Lys252Glu missense_variant probably damaging HLE Missense Mutation IRF7 chr11 613826 613826 G A g.613826G>A ENST00000397574.2 c.806C>T p.Pro269Leu missense_variant benign HLE Missense Mutation OR56B3P chr11 6150512 6150512 G A g.6150512G>A ENST00000316517.2 c.673G>A p.V225M missense_variant NA HLE Missense Mutation FADS1 chr11 61580094 61580094 C T g.61580094C>T ENST00000350997.7 c.533G>A p.Arg178Gln missense_variant benign HLE Missense Mutation TBX10 chr11 67400510 67400510 T G g.67400510T>G ENST00000335385.3 c.614A>C p.Lys205Thr missense_variant benign HLE Missense Mutation ARHGEF17 chr11 73073158 73073158 G A g.73073158G>A ENST00000263674.3 c.4568G>A p.Gly1523Asp missense_variant probably damaging HLE Missense Mutation MYO7A chr11 76867098 76867098 A T g.76867098A>T ENST00000409709.3 c.431A>T p.Asn144Ile missense_variant benign HLE Missense Mutation NLRP10 chr11 7982050 7982050 C T g.7982050C>T ENST00000328600.2 c.1109G>A p.Arg370Lys missense_variant benign HLE Missense Mutation GRM5 chr11 88386433 88386433 G C g.88386433G>C ENST00000305432.5 c.1050C>G p.His350Gln missense_variant benign HLE Missense Mutation HEPHL1 chr11 93796797 93796797 A G g.93796797A>G ENST00000315765.9 c.539A>G p.Asn180Ser missense_variant possibly damaging HLE Missense Mutation CEP57 chr11 95546266 95546266 C T g.95546266C>T ENST00000325486.5 c.373C>T p.His125Tyr missense_variant probably damaging HLE Missense Mutation ANO4 chr12 101480543 101480543 G A g.101480543G>A ENST00000392979.3 c.1537G>A p.Val513Ile missense_variant possibly damaging HLE Missense Mutation GNPTAB chr12 102164884 102164884 T C g.102164884T>C ENST00000299314.7 c.823A>G p.Lys275Glu missense_variant benign HLE Missense Mutation ACACB chr12 109604668 109604668 C T g.109604668C>T ENST00000338432.7 c.656C>T p.Pro219Leu (Splice) missense_variant,splice_region_variant possibly damaging HLE Missense Mutation FAM222A chr12 110206569 110206569 G A g.110206569G>A ENST00000358906.3 c.835G>A p.Ala279Thr missense_variant benign HLE Missense Mutation CUX2 chr12 111744875 111744875 G A g.111744875G>A ENST00000261726.6 c.1009G>A p.Asp337Asn missense_variant probably damaging HLE Missense Mutation KSR2 chr12 118293265 118293265 G T g.118293265G>T ENST00000425217.1 c.353C>A p.Ser147Tyr missense_variant possibly damaging HLE Missense Mutation HCAR2 chr12 123187275 123187275 A G g.123187275A>G ENST00000328880.5 c.556T>C p.Phe186Leu missense_variant benign HLE Missense Mutation ZNF664 chr12 124496915 124496915 A G g.124496915A>G ENST00000337815.4 c.224A>G p.Asn75Ser missense_variant benign HLE Missense Mutation AEBP2 chr12 19592740 19592740 C G g.19592740C>G ENST00000266508.9 c.107C>G p.Pro36Arg missense_variant benign HLE Missense Mutation ITPR2 chr12 26540381 26540381 C A g.26540381C>A ENST00000381340.3 c.7843G>T p.Ala2615Ser missense_variant possibly damaging HLE Missense Mutation PKP2 chr12 33030861 33030861 T G g.33030861T>G ENST00000070846.6 c.953A>C p.His318Pro missense_variant benign HLE Missense Mutation C12orf5 chr12 4461796 4461796 C T g.4461796C>T ENST00000179259.4 c.752C>T p.Thr251Met missense_variant probably damaging HLE Missense Mutation KMT2D chr12 49426276 49426276 C T g.49426276C>T ENST00000301067.7 c.12212G>A p.Gly4071Glu missense_variant benign HLE Missense Mutation TMBIM6 chr12 50146838 50146838 G A g.50146838G>A ENST00000267115.5 c.139G>A p.Val47Ile missense_variant benign HLE Missense Mutation SLC39A5 chr12 56628681 56628681 C T g.56628681C>T ENST00000266980.4 c.545C>T p.Ala182Val missense_variant probably damaging HLE Missense Mutation LRP1 chr12 57578700 57578700 G A g.57578700G>A ENST00000243077.3 c.6265G>A p.Val2089Met missense_variant possibly damaging HLE Missense Mutation CLLU1 chr12 92818595 92818595 C A g.92818595C>A ENST00000378485.1 c.139C>A p.Leu47Met missense_variant unknown HLE Missense Mutation HAL chr12 96370464 96370464 C G g.96370464C>G ENST00000261208.3 c.1675G>C p.Ala559Pro missense_variant probably damaging HLE Missense Mutation N4BP2L2 chr13 33017742 33017742 T C g.33017742T>C ENST00000399396.3 c.932A>G p.Asp311Gly missense_variant benign HLE Missense Mutation PROSER1 chr13 39586344 39586344 C A g.39586344C>A ENST00000352251.3 c.2588G>T p.Gly863Val missense_variant possibly damaging HLE Missense Mutation ZBTB42 chr14 105268364 105268364 G A g.105268364G>A ENST00000342537.7 c.830G>A p.Gly277Asp missense_variant benign HLE Missense Mutation METTL3 chr14 21971875 21971875 G A g.21971875G>A ENST00000298717.4 c.250C>T p.His84Tyr missense_variant benign HLE Missense Mutation AKAP6 chr14 33291067 33291067 G A g.33291067G>A ENST00000280979.4 c.4048G>A p.Ala1350Thr missense_variant benign HLE Missense Mutation PELI2 chr14 56763405 56763405 T C g.56763405T>C ENST00000267460.4 c.784T>C p.Phe262Leu missense_variant benign HLE Missense Mutation CCDC175 chr14 59998537 59998537 T C g.59998537T>C ENST00000281581.4 c.1715A>G p.Tyr572Cys missense_variant damaging HLE Missense Mutation ERH chr14 69861548 69861548 T C g.69861548T>C ENST00000555373.1 c.85A>G p.Met29Val missense_variant benign HLE Missense Mutation TTC7B chr14 91084340 91084340 C T g.91084340C>T ENST00000328459.6 c.1801G>A p.Glu601Lys missense_variant probably damaging HLE Missense Mutation UNC79 chr14 94041489 94041489 C A g.94041489C>A ENST00000256339.4 c.1625C>A p.Ala542Glu missense_variant probably damaging HLE Missense Mutation CCPG1 chr15 55652274 55652274 A C g.55652274A>C ENST00000310958.6 c.1697T>G p.Phe566Cys missense_variant probably damaging HLE Missense Mutation MNS1 chr15 56748705 56748705 C G g.56748705C>G ENST00000260453.3 c.240G>C p.Lys80Asn missense_variant possibly damaging HLE Missense Mutation NARG2 chr15 60742007 60742007 C G g.60742007C>G ENST00000261520.4 c.1159G>C p.Glu387Gln missense_variant probably damaging HLE Missense Mutation ITGA11 chr15 68603348 68603348 C T g.68603348C>T ENST00000315757.7 c.3158G>A p.Arg1053His missense_variant benign HLE Missense Mutation IL16 chr15 81584945 81584945 A G g.81584945A>G ENST00000302987.4 c.1469A>G p.Lys490Arg missense_variant benign HLE Missense Mutation ZNF592 chr15 85328037 85328037 A G g.85328037A>G ENST00000299927.3 c.2131A>G p.Ile711Val missense_variant benign HLE Missense Mutation HAPLN3 chr15 89430474 89430474 G T g.89430474G>T ENST00000359595.3 c.56C>A p.Pro19His missense_variant probably damaging HLE Missense Mutation CACNA1H chr16 1251814 1251814 G A g.1251814G>A ENST00000348261.5 c.1364G>A p.Ser455Asn missense_variant probably damaging HLE Missense Mutation XYLT1 chr16 17228432 17228432 T C g.17228432T>C ENST00000261381.6 c.1925A>G p.His642Arg missense_variant benign HLE Missense Mutation RPL3L chr16 1994887 1994887 T C g.1994887T>C ENST00000268661.7 c.1175A>G p.Gln392Arg missense_variant benign HLE Missense Mutation KDM8 chr16 27231971 27231971 A T g.27231971A>T ENST00000286096.4 c.1171A>T p.Ile391Phe missense_variant possibly damaging HLE Missense Mutation TCEB2 chr16 2821486 2821486 C T g.2821486C>T ENST00000262306.7 c.473G>A p.Arg158His missense_variant benign HLE Missense Mutation ADCY9 chr16 4016924 4016924 G A g.4016924G>A ENST00000294016.3 c.2914C>T p.Arg972Trp missense_variant probably damaging HLE Missense Mutation PPL chr16 4933587 4933587 C T g.4933587C>T ENST00000345988.2 c.5069G>A p.Ser1690Asn missense_variant benign HLE Missense Mutation CYLD chr16 50810131 50810131 A G g.50810131A>G ENST00000311559.9 c.964A>G p.Met322Val missense_variant benign HLE Missense Mutation TSNAXIP1 chr16 67861783 67861783 G C g.67861783G>C ENST00000388833.3 c.1864G>C p.Glu622Gln missense_variant possibly damaging HLE Missense Mutation ZNF23 chr16 71482504 71482504 G T g.71482504G>T ENST00000357254.4 c.1424C>A p.Pro475His missense_variant probably damaging HLE Missense Mutation GSE1 chr16 85704643 85704643 G A g.85704643G>A ENST00000253458.7 c.3458G>A p.Arg1153Gln missense_variant probably damaging HLE Missense Mutation ZNF469 chr16 88503449 88503449 A T g.88503449A>T ENST00000437464.1 c.9487A>T p.Asn3163Tyr missense_variant probably damaging HLE Missense Mutation VPS9D1 chr16 89782988 89782988 G A g.89782988G>A ENST00000389386.3 c.313C>T p.Pro105Ser missense_variant benign HLE Missense Mutation TCF25 chr16 89949883 89949883 C T g.89949883C>T ENST00000263346.8 c.317C>T p.Thr106Met missense_variant possibly damaging HLE Missense Mutation MYH4 chr17 10356206 10356206 A G g.10356206A>G ENST00000255381.2 c.3155T>C p.Leu1052Ser missense_variant possibly damaging HLE Missense Mutation HS3ST3B1 chr17 14205199 14205199 C T g.14205199C>T ENST00000360954.2 c.364C>T p.Pro122Ser missense_variant benign HLE Missense Mutation TEKT3 chr17 15234559 15234559 T G g.15234559T>G ENST00000338696.2 c.344A>C p.His115Pro missense_variant possibly damaging HLE Missense Mutation MPRIP chr17 17039690 17039690 C G g.17039690C>G ENST00000341712.4 c.662C>G p.Pro221Arg missense_variant damaging HLE Missense Mutation DHRS7B chr17 21094405 21094405 G C g.21094405G>C ENST00000395511.3 c.917G>C p.Gly306Ala missense_variant benign HLE Missense Mutation PIPOX chr17 27380461 27380461 C T g.27380461C>T ENST00000323372.4 c.508C>T p.Arg170Cys missense_variant benign HLE Missense Mutation OR3A2 chr17 3181302 3181302 G C g.3181302G>C ENST00000408891.2 c.928C>G p.Leu310Val missense_variant benign HLE Missense Mutation SYNRG chr17 35930854 35930854 G A g.35930854G>A ENST00000339208.6 c.1229C>T p.Ala410Val missense_variant possibly damaging HLE Missense Mutation GPR179 chr17 36483792 36483792 T G g.36483792T>G ENST00000342292.4 c.5660A>C p.Gln1887Pro missense_variant benign HLE Missense Mutation MLLT6 chr17 36865472 36865472 C T g.36865472C>T ENST00000325718.7 c.401C>T p.Ser134Leu missense_variant probably damaging HLE Missense Mutation KRTAP4-16P chr17 39258388 39258388 T A g.39258388T>A ENST00000440582.1 c.74A>T p.H25L missense_variant NA HLE Missense Mutation GOSR2 chr17 45006927 45006927 C A g.45006927C>A ENST00000225567.4 c.71C>A p.Thr24Lys missense_variant benign HLE Missense Mutation COPZ2 chr17 46109560 46109560 G T g.46109560G>T ENST00000006101.4 c.450C>A p.D150E missense_variant possibly damaging HLE Missense Mutation B4GALNT2 chr17 47210159 47210159 C T g.47210159C>T ENST00000393354.2 c.5C>T p.Thr2Ile missense_variant benign HLE Missense Mutation B4GALNT2 chr17 47247085 47247085 G A g.47247085G>A ENST00000300404.2 c.1696G>A p.Ala566Thr missense_variant benign HLE Missense Mutation HSF5 chr17 56540432 56540432 C T g.56540432C>T ENST00000323777.3 c.1253G>A p.Ser418Asn missense_variant benign HLE Missense Mutation TEX2 chr17 62232305 62232305 G C g.62232305G>C ENST00000258991.3 c.2848C>G p.Leu950Val missense_variant possibly damaging HLE Missense Mutation ABCA10 chr17 67178923 67178923 A C g.67178923A>C ENST00000269081.4 c.2524T>G p.Ser842Ala missense_variant benign HLE Missense Mutation KCNJ16 chr17 68129249 68129249 G T g.68129249G>T ENST00000283936.1 c.1021G>T p.Ala341Ser missense_variant probably damaging HLE Missense Mutation ITGB4 chr17 73751175 73751175 C T g.73751175C>T ENST00000339591.3 c.4388C>T p.Pro1463Leu missense_variant benign HLE Missense Mutation EVPL chr17 74013866 74013866 C T g.74013866C>T ENST00000301607.3 c.1664G>A p.Arg555His missense_variant benign HLE Missense Mutation TP53 chr17 7577550 7577550 C G g.7577550C>G ENST00000269305.4 c.731G>C p.Gly244Ala missense_variant probably damaging HLE Missense Mutation DNAH17 chr17 76491052 76491052 G A g.76491052G>A NM_173628.3 c.6031C>T p.Leu2006Phe missense_variant damaging HLE Missense Mutation FAM195B chr17 79782399 79782399 C T g.79782399C>T ENST00000572645.1 c.47G>A p.Gly16Glu missense_variant NA HLE Missense Mutation PER1 chr17 8046676 8046676 G A g.8046676G>A ENST00000317276.4 c.2980C>T p.Arg994Cys missense_variant probably damaging HLE Missense Mutation PSMG2 chr18 12720558 12720558 A T g.12720558A>T ENST00000317615.6 c.457A>T p.Asn153Tyr missense_variant possibly damaging HLE Missense Mutation TAF4B chr18 23865951 23865951 A G g.23865951A>G ENST00000269142.5 c.1078A>G p.Thr360Ala missense_variant benign HLE Missense Mutation FHOD3 chr18 34205538 34205538 G A g.34205538G>A ENST00000257209.4 c.1022G>A p.Arg341Gln missense_variant probably damaging HLE Missense Mutation NEDD4L chr18 56057917 56057917 C G g.56057917C>G ENST00000400345.3 c.2695C>G p.Leu899Val missense_variant probably damaging HLE Missense Mutation LAMA1 chr18 7012082 7012082 C T g.7012082C>T ENST00000389658.3 c.3419G>A p.Arg1140His missense_variant benign HLE Missense Mutation SOGA2 chr18 8826072 8826072 C T g.8826072C>T ENST00000359865.3 c.4564C>T p.Pro1522Ser missense_variant probably damaging HLE Missense Mutation DNMT1 chr19 10259654 10259654 C T g.10259654C>T ENST00000340748.4 c.2578G>A p.Gly860Arg missense_variant probably damaging HLE Missense Mutation OR1I1 chr19 15198252 15198252 A T g.15198252A>T ENST00000209540.2 c.376A>T p.Ile126Phe missense_variant probably damaging HLE Missense Mutation GDF15 chr19 18499659 18499659 C A g.18499659C>A ENST00000252809.3 c.841C>A p.Pro281Thr missense_variant probably damaging HLE Missense Mutation ELL chr19 18557283 18557283 C T g.18557283C>T ENST00000262809.4 c.1540G>A p.Ala514Thr missense_variant benign HLE Missense Mutation ZNF729 chr19 22498041 22498041 G C g.22498041G>C ENST00000357491.6 c.1822G>C p.A608P missense_variant NA HLE Missense Mutation TSHZ3 chr19 31768462 31768462 G T g.31768462G>T ENST00000240587.4 c.2237C>A p.Pro746His missense_variant probably damaging HLE Missense Mutation GPATCH1 chr19 33597656 33597656 C T g.33597656C>T ENST00000170564.2 c.1136C>T p.Pro379Leu missense_variant probably damaging HLE Missense Mutation GRAMD1A chr19 35512869 35512869 C T g.35512869C>T ENST00000317991.5 c.1768C>T p.Arg590Cys missense_variant benign HLE Missense Mutation CACTIN chr19 3613257 3613257 C T g.3613257C>T ENST00000248420.5 c.1585G>A p.Gly529Arg missense_variant benign HLE Missense Mutation CATSPERG chr19 38851425 38851425 G A g.38851425G>A ENST00000409235.3 c.1822G>A p.Val608Met missense_variant probably damaging HLE Missense Mutation FAM98C chr19 38896264 38896264 G C g.38896264G>C ENST00000252530.5 c.739G>C p.Asp247His missense_variant probably damaging HLE Missense Mutation RYR1 chr19 38958417 38958417 G A g.38958417G>A ENST00000355481.4 c.3346G>A p.Ala1116Thr missense_variant possibly damaging HLE Missense Mutation CCDC155 chr19 49912284 49912284 G A g.49912284G>A ENST00000447857.3 c.1054G>A p.Asp352Asn missense_variant possibly damaging HLE Missense Mutation ZNF528 chr19 52919930 52919930 C G g.52919930C>G ENST00000360465.3 c.1825C>G p.Leu609Val missense_variant benign HLE Missense Mutation TFPT chr19 54613456 54613456 G A g.54613456G>A ENST00000391757.1 c.331C>T p.Arg111Trp missense_variant probably damaging HLE Missense Mutation LILRB5 chr19 54754700 54754700 T C g.54754700T>C ENST00000316219.5 c.1723A>G p.Arg575Gly missense_variant benign HLE Missense Mutation KIR2DL1 chr19 55284970 55284970 T C g.55284970T>C ENST00000291633.7 c.256T>C p.Ser86Pro missense_variant benign HLE Missense Mutation ZNF550 chr19 58059130 58059130 C G g.58059130C>G ENST00000376230.3 c.482G>C p.G161A missense_variant,NMD_transcript_variant benign HLE Missense Mutation FLJ22184 chr19 7935683 7935683 G A g.7935683G>A NM_001190467.1 c.2447C>T p.Ala816Val missense_variant NA HLE Missense Mutation MUC16 chr19 8987281 8987281 G A g.8987281G>A ENST00000397910.4 c.41806C>T p.Arg13936Cys missense_variant probably damaging HLE Missense Mutation MUC16 chr19 9075292 9075292 T A g.9075292T>A ENST00000397910.4 c.12154A>T p.Thr4052Ser missense_variant possibly damaging HLE Missense Mutation CREG2 chr2 102000104 102000104 T C g.102000104T>C ENST00000324768.5 c.502A>G p.Thr168Ala missense_variant probably damaging HLE Missense Mutation IL1R2 chr2 102625062 102625062 A G g.102625062A>G ENST00000332549.3 c.25A>G p.Met9Val missense_variant benign HLE Missense Mutation RRM2 chr2 10263533 10263533 C G g.10263533C>G ENST00000304567.5 c.194C>G p.Pro65Arg missense_variant benign HLE Missense Mutation PCDP1 chr2 120369254 120369254 A T g.120369254A>T ENST00000413369.3 c.1247A>T p.D416V missense_variant benign HLE Missense Mutation GLI2 chr2 121746230 121746230 C T g.121746230C>T ENST00000361492.4 c.2740C>T p.Arg914Trp missense_variant probably damaging HLE Missense Mutation DPP4 chr2 162876791 162876791 T C g.162876791T>C ENST00000360534.3 c.1192A>G p.Thr398Ala missense_variant probably damaging HLE Missense Mutation PXDN chr2 1651953 1651953 T C g.1651953T>C ENST00000252804.4 c.3599A>G p.Lys1200Arg missense_variant possibly damaging HLE Missense Mutation ABCB11 chr2 169847323 169847323 C T g.169847323C>T ENST00000263817.6 c.896G>A p.Arg299Lys missense_variant benign HLE Missense Mutation LRP2 chr2 169997008 169997008 C T g.169997008C>T ENST00000263816.3 c.13156G>A p.Gly4386Arg missense_variant possibly damaging HLE Missense Mutation TTN chr2 179547988 179547988 T A g.179547988T>A ENST00000591111.1 c.31886A>T p.Glu10629Val missense_variant benign HLE Missense Mutation KCNS3 chr2 18113056 18113056 G A g.18113056G>A ENST00000304101.4 c.781G>A p.Val261Ile missense_variant benign HLE Missense Mutation ITGAV chr2 187521117 187521117 G A g.187521117G>A ENST00000261023.3 c.1708G>A p.Ala570Thr missense_variant probably damaging HLE Missense Mutation MSTN chr2 190925069 190925069 G T g.190925069G>T ENST00000260950.4 c.466C>A p.Leu156Ile missense_variant possibly damaging HLE Missense Mutation MATN3 chr2 20205636 20205636 A G g.20205636A>G ENST00000407540.3 c.659T>C p.Val220Ala missense_variant probably damaging HLE Missense Mutation CDK15 chr2 202744816 202744816 G A g.202744816G>A ENST00000260967.2 c.971G>A p.Arg375His missense_variant probably damaging HLE Missense Mutation CCDC108 chr2 219892643 219892643 A G g.219892643A>G ENST00000341552.5 c.1940T>C p.Phe647Ser missense_variant probably damaging HLE Missense Mutation COL4A3 chr2 228131784 228131784 A G g.228131784A>G ENST00000396578.3 c.1484A>G p.His495Arg missense_variant probably damaging HLE Missense Mutation DNER chr2 230272028 230272028 G C g.230272028G>C ENST00000341772.4 c.1643C>G p.Ala548Gly missense_variant possibly damaging HLE Missense Mutation ARMC9 chr2 232160926 232160926 G T g.232160926G>T ENST00000349938.4 c.1733G>T p.Gly578Val missense_variant possibly damaging HLE Missense Mutation TRAF3IP1 chr2 239306308 239306308 A G g.239306308A>G ENST00000373327.4 c.1898A>G p.Gln633Arg missense_variant benign HLE Missense Mutation ANO7 chr2 242140734 242140734 G C g.242140734G>C ENST00000274979.8 c.738G>C p.Gln246His missense_variant benign HLE Missense Mutation ITSN2 chr2 24524088 24524088 G C g.24524088G>C ENST00000355123.4 c.1016C>G p.Ser339Cys missense_variant benign HLE Missense Mutation POMC chr2 25384377 25384377 T G g.25384377T>G ENST00000264708.3 c.377A>C p.Asp126Ala missense_variant benign HLE Missense Mutation LTBP1 chr2 33518308 33518308 A G g.33518308A>G ENST00000404816.2 c.3194A>G p.His1065Arg missense_variant possibly damaging HLE Missense Mutation CEBPZ chr2 37439056 37439056 T G g.37439056T>G ENST00000234170.5 c.2730A>C p.Glu910Asp missense_variant benign HLE Missense Mutation NDUFAF7 chr2 37474768 37474768 T G g.37474768T>G ENST00000002125.4 c.1106T>G p.Leu369Arg missense_variant probably damaging HLE Missense Mutation ZFP36L2 chr2 43452709 43452709 G T g.43452709G>T ENST00000282388.3 c.234C>A p.Phe78Leu missense_variant benign HLE Missense Mutation THADA chr2 43459929 43459929 G A g.43459929G>A ENST00000405006.4 c.5389C>T p.Pro1797Ser missense_variant benign HLE Missense Mutation THADA chr2 43755034 43755034 T G g.43755034T>G ENST00000405006.4 c.3358A>C p.Thr1120Pro missense_variant probably damaging HLE Missense Mutation SLC3A1 chr2 44539831 44539831 A G g.44539831A>G ENST00000260649.6 c.1439A>G p.Tyr480Cys missense_variant probably damaging HLE Missense Mutation KDM3A chr2 86716530 86716530 A T g.86716530A>T ENST00000312912.5 c.3403A>T p.Ile1135Phe missense_variant probably damaging HLE Missense Mutation E2F1 chr20 32267592 32267592 C T g.32267592C>T ENST00000343380.5 c.541G>A p.Ala181Thr missense_variant benign HLE Missense Mutation ZNF341 chr20 32379135 32379135 C T g.32379135C>T ENST00000342427.2 c.2356C>T p.Pro786Ser missense_variant benign HLE Missense Mutation PIGU chr20 33225755 33225755 T C g.33225755T>C ENST00000217446.3 c.353A>G p.Gln118Arg missense_variant benign HLE Missense Mutation SOGA1 chr20 35422544 35422544 T C g.35422544T>C ENST00000237536.4 c.3941A>G p.Asp1314Gly missense_variant damaging HLE Missense Mutation EPPIN chr20 44171443 44171443 T C g.44171443T>C ENST00000354280.4 c.287A>G p.Asp96Gly missense_variant probably damaging HLE Missense Mutation ZSWIM3 chr20 44506794 44506794 G A g.44506794G>A ENST00000255152.2 c.1597G>A p.Val533Ile missense_variant benign HLE Missense Mutation SULF2 chr20 46385992 46385992 C T g.46385992C>T ENST00000359930.4 c.116G>A p.Arg39His missense_variant probably damaging HLE Missense Mutation CDH26 chr20 58560134 58560134 G A g.58560134G>A ENST00000244047.5 c.787G>A p.Val263Met missense_variant benign HLE Missense Mutation DNAJC5 chr20 62562301 62562301 C T g.62562301C>T ENST00000360864.4 c.419C>T p.Ala140Val missense_variant benign HLE Missense Mutation NRIP1 chr21 16337822 16337822 C T g.16337822C>T ENST00000318948.4 c.2692G>A p.Glu898Lys missense_variant benign HLE Missense Mutation HLCS chr21 38309036 38309036 G C g.38309036G>C ENST00000336648.4 c.709C>G p.Leu237Val missense_variant possibly damaging HLE Missense Mutation PIGP chr21 38438001 38438001 T C g.38438001T>C ENST00000464265.1 c.358A>G p.Lys120Glu missense_variant benign HLE Missense Mutation DNMT3L chr21 45681109 45681109 C T g.45681109C>T ENST00000270172.3 c.34G>A p.Glu12Lys missense_variant probably damaging HLE Missense Mutation ARVCF chr22 19960786 19960786 G A g.19960786G>A ENST00000263207.3 c.2294C>T p.Pro765Leu missense_variant benign HLE Missense Mutation MYO18B chr22 26194046 26194046 G A g.26194046G>A ENST00000335473.7 c.2503G>A p.Ala835Thr missense_variant probably damaging HLE Missense Mutation C22orf24 chr22 32330241 32330241 T C g.32330241T>C ENST00000248984.3 c.346A>G p.Ile116Val missense_variant benign HLE Missense Mutation EIF3D chr22 36912623 36912623 C G g.36912623C>G ENST00000216190.8 c.1108G>C p.Asp370His missense_variant possibly damaging HLE Missense Mutation TRIOBP chr22 38165151 38165151 G A g.38165151G>A ENST00000406386.3 c.6692G>A p.Arg2231His missense_variant probably damaging HLE Missense Mutation MICALL1 chr22 38323483 38323483 G A g.38323483G>A ENST00000215957.6 c.1531G>A p.Val511Met missense_variant probably damaging HLE Missense Mutation MGAT3 chr22 39883605 39883605 C T g.39883605C>T ENST00000341184.6 c.253C>T p.Pro85Ser missense_variant benign HLE Missense Mutation FANCD2 chr3 10108987 10108987 A C g.10108987A>C ENST00000287647.3 c.2480A>C p.Glu827Ala missense_variant probably damaging HLE Missense Mutation EFCC1 chr3 128721048 128721048 A G g.128721048A>G ENST00000480450.1 c.577A>G p.Ser193Gly missense_variant benign HLE Missense Mutation COL6A5 chr3 130187674 130187674 C G g.130187674C>G ENST00000265379.6 c.6826C>G p.His2276Asp missense_variant benign HLE Missense Mutation SLCO2A1 chr3 133672567 133672567 C T g.133672567C>T ENST00000310926.4 c.664G>A p.Gly222Arg missense_variant probably damaging HLE Missense Mutation PARL chr3 183547414 183547414 C A g.183547414C>A ENST00000317096.4 c.1112G>T p.Gly371Val missense_variant benign HLE Missense Mutation ABCF3 chr3 183911358 183911358 C T g.183911358C>T ENST00000429586.2 c.2002C>T p.Arg668Cys missense_variant benign HLE Missense Mutation TRAK1 chr3 42244253 42244253 G A g.42244253G>A ENST00000449246.1 c.1531G>A p.Ala511Thr missense_variant benign HLE Missense Mutation CHL1 chr3 436404 436404 A T g.436404A>T ENST00000256509.2 c.2943A>T p.Leu981Phe missense_variant probably damaging HLE Missense Mutation FYCO1 chr3 46005882 46005882 G A g.46005882G>A ENST00000296137.2 c.3215C>T p.Ala1072Val missense_variant probably damaging HLE Missense Mutation DAG1 chr3 49548187 49548187 G A g.49548187G>A ENST00000308775.2 c.220G>A p.Val74Ile missense_variant benign HLE Missense Mutation ALAS1 chr3 52236528 52236528 A G g.52236528A>G ENST00000310271.2 c.205A>G p.Lys69Glu missense_variant benign HLE Missense Mutation CLNK chr4 10515101 10515101 C G g.10515101C>G ENST00000226951.6 c.893G>C p.Arg298Thr missense_variant benign HLE Missense Mutation GLRB chr4 158091771 158091771 C G g.158091771C>G ENST00000264428.4 c.1385C>G p.Ala462Gly missense_variant benign HLE Missense Mutation PALLD chr4 169837099 169837099 G A g.169837099G>A ENST00000505667.1 c.2771G>A p.Arg924Gln missense_variant probably damaging HLE Missense Mutation UFSP2 chr4 186329517 186329517 A G g.186329517A>G ENST00000264689.6 c.904T>C p.Cys302Arg missense_variant probably damaging HLE Missense Mutation KIAA1239 chr4 37448745 37448745 A G g.37448745A>G ENST00000309447.5 c.5135A>G p.Asn1712Ser missense_variant benign HLE Missense Mutation YIPF7 chr4 44626750 44626750 C T g.44626750C>T ENST00000332990.5 c.548G>A p.Cys183Tyr missense_variant probably damaging HLE Missense Mutation AASDH chr4 57244447 57244447 T C g.57244447T>C ENST00000205214.6 c.535A>G p.Lys179Glu missense_variant benign HLE Missense Mutation SORCS2 chr4 7640199 7640199 G A g.7640199G>A ENST00000507866.2 c.793G>A p.Ala265Thr missense_variant probably damaging HLE Missense Mutation SLC2A9 chr4 9889247 9889247 G C g.9889247G>C ENST00000264784.3 c.1235C>G p.Pro412Arg missense_variant benign HLE Missense Mutation DDX46 chr5 134109533 134109533 A C g.134109533A>C ENST00000354283.4 c.595A>C p.Ser199Arg missense_variant probably damaging HLE Missense Mutation PCDHA7 chr5 140214301 140214301 A C g.140214301A>C ENST00000378125.3 c.333A>C p.Glu111Asp missense_variant benign HLE Missense Mutation PCDH1 chr5 141243083 141243083 T G g.141243083T>G ENST00000287008.3 c.2813A>C p.Lys938Thr missense_variant probably damaging HLE Missense Mutation SMIM3 chr5 150175145 150175145 A G g.150175145A>G ENST00000526627.1 c.143A>G p.Tyr48Cys missense_variant damaging HLE Missense Mutation FAM71B chr5 156590263 156590263 G A g.156590263G>A ENST00000302938.4 c.1013C>T p.Ser338Leu missense_variant benign HLE Missense Mutation EBF1 chr5 158526428 158526428 A C g.158526428A>C ENST00000313708.6 c.59T>G p.Leu20Arg missense_variant benign HLE Missense Mutation PLEKHG4B chr5 163071 163071 G T g.163071G>T ENST00000283426.6 c.1816G>T p.Ala606Ser missense_variant benign HLE Missense Mutation ZNF354B chr5 178293332 178293332 G C g.178293332G>C ENST00000322434.3 c.121G>C p.Asp41His missense_variant benign HLE Missense Mutation NIPBL chr5 36976160 36976160 A G g.36976160A>G ENST00000282516.8 c.1151A>G p.Asn384Ser missense_variant benign HLE Missense Mutation C5orf42 chr5 37177726 37177726 T A g.37177726T>A ENST00000425232.2 c.5897A>T p.Lys1966Ile missense_variant possibly damaging HLE Missense Mutation MROH2B chr5 41000447 41000447 G A g.41000447G>A ENST00000399564.4 c.4357C>T p.Arg1453Cys missense_variant benign HLE Missense Mutation C6 chr5 41176666 41176666 T A g.41176666T>A ENST00000263413.3 c.1079A>T p.Asp360Val missense_variant possibly damaging HLE Missense Mutation ZNF131 chr5 43175096 43175096 A T g.43175096A>T ENST00000306938.4 c.1631A>T p.Glu544Val missense_variant benign HLE Missense Mutation KIAA0947 chr5 5460878 5460878 C G g.5460878C>G ENST00000296564.7 c.1431C>G p.Asp477Glu missense_variant benign HLE Missense Mutation C5orf64 chr5 60999744 60999744 G A g.60999744G>A ENST00000313303.7 c.277G>A p.Gly93Arg missense_variant benign HLE Missense Mutation NEDD9 chr6 11193863 11193863 C A g.11193863C>A ENST00000379446.5 c.522G>T p.Lys174Asn missense_variant possibly damaging HLE Missense Mutation IL22RA2 chr6 137482864 137482864 A G g.137482864A>G ENST00000296980.2 c.23T>C p.Leu8Pro missense_variant benign HLE Missense Mutation ADGB chr6 147022135 147022135 G A g.147022135G>A ENST00000397944.3 c.1636G>A p.Val546Ile missense_variant benign HLE Missense Mutation TAB2 chr6 149691187 149691187 A C g.149691187A>C ENST00000286332.5 c.54A>C p.Gln18His missense_variant probably damaging HLE Missense Mutation PPIL4 chr6 149833322 149833322 T G g.149833322T>G ENST00000253329.2 c.1196A>C p.Glu399Ala missense_variant benign HLE Missense Mutation KIF13A chr6 17799507 17799507 G T g.17799507G>T ENST00000259711.6 c.2780C>A p.Ser927Tyr missense_variant probably damaging HLE Missense Mutation HIST1H1C chr6 26056290 26056290 C T g.26056290C>T ENST00000343677.2 c.367G>A p.Ala123Thr missense_variant benign HLE Missense Mutation NKAPL chr6 28227610 28227610 T C g.28227610T>C ENST00000343684.3 c.461T>C p.Val154Ala missense_variant benign HLE Missense Mutation VARS2 chr6 30890300 30890300 C T g.30890300C>T ENST00000321897.5 c.2006C>T p.Pro669Leu missense_variant probably damaging HLE Missense Mutation HLA-DQA1 chr6 32609790 32609790 C G g.32609790C>G ENST00000343139.5 c.373C>G p.Leu125Val missense_variant probably damaging HLE Missense Mutation TAP1 chr6 32821475 32821475 C A g.32821475C>A ENST00000354258.4 c.119G>T p.Arg40Met missense_variant benign HLE Missense Mutation ENPP5 chr6 46135606 46135606 G A g.46135606G>A ENST00000230565.3 c.394C>T p.His132Tyr missense_variant benign HLE Missense Mutation FAM135A chr6 71190665 71190665 T G g.71190665T>G ENST00000361499.3 c.604T>G p.Ser202Ala missense_variant probably damaging HLE Missense Mutation PNISR chr6 99849102 99849102 G A g.99849102G>A ENST00000369239.5 c.1732C>T p.Arg578Cys missense_variant probably damaging HLE Missense Mutation RELN chr7 103275923 103275923 A T g.103275923A>T ENST00000343529.5 c.2414T>A p.Ile805Lys missense_variant probably damaging HLE Missense Mutation PTPRZ1 chr7 121651858 121651858 C T g.121651858C>T ENST00000393386.2 c.2758C>T p.Arg920Cys missense_variant possibly damaging HLE Missense Mutation SDK1 chr7 3991394 3991394 G A g.3991394G>A ENST00000389531.3 c.992G>A p.Arg331Lys missense_variant probably damaging HLE Missense Mutation C7orf25 chr7 42949289 42949289 T C g.42949289T>C ENST00000350427.4 c.1211A>G p.Lys404Arg missense_variant probably damaging HLE Missense Mutation SEPT14 chr7 55902144 55902144 C G g.55902144C>G ENST00000388975.3 c.694G>C p.Ala232Pro missense_variant benign HLE Missense Mutation RP1L1 chr8 10467335 10467335 C G g.10467335C>G ENST00000382483.3 c.4273G>C p.Asp1425His missense_variant probably damaging HLE Missense Mutation RIMS2 chr8 104897973 104897973 G T g.104897973G>T ENST00000436393.2 c.480G>T p.Arg160Ser missense_variant benign HLE Missense Mutation DPYS chr8 105440299 105440299 T C g.105440299T>C ENST00000351513.2 c.1001A>G p.Gln334Arg missense_variant probably damaging HLE Missense Mutation TRHR chr8 110131639 110131639 T A g.110131639T>A ENST00000311762.2 c.1152T>A p.Phe384Leu missense_variant benign HLE Missense Mutation TNFRSF11B chr8 119941145 119941145 A T g.119941145A>T ENST00000297350.4 c.424T>A p.Cys142Ser missense_variant probably damaging HLE Missense Mutation KIAA0196 chr8 126061369 126061369 C T g.126061369C>T ENST00000318410.7 c.2258G>A p.Arg753His missense_variant probably damaging HLE Missense Mutation ZC3H3 chr8 144621242 144621242 G A g.144621242G>A ENST00000262577.5 c.295C>T p.Arg99Trp missense_variant probably damaging HLE Missense Mutation MROH6 chr8 144653087 144653087 G A g.144653087G>A ENST00000398882.3 c.680C>T p.Ala227Val missense_variant benign HLE Missense Mutation TIGD5 chr8 144681790 144681790 G A g.144681790G>A ENST00000504548.2 c.1717G>A p.Asp573Asn missense_variant benign HLE Missense Mutation CCDC166 chr8 144790254 144790254 G A g.144790254G>A ENST00000542437.1 c.26C>T p.Pro9Leu missense_variant benign HLE Missense Mutation MAPK15 chr8 144803962 144803962 C T g.144803962C>T ENST00000338033.4 c.1370C>T p.Ser457Phe missense_variant possibly damaging HLE Missense Mutation ZNF596 chr8 195413 195413 A C g.195413A>C ENST00000308811.4 c.566A>C p.His189Pro missense_variant possibly damaging HLE Missense Mutation NR4A3 chr9 102595054 102595054 G C g.102595054G>C ENST00000338488.4 c.1035G>C p.Gln345His missense_variant probably damaging HLE Missense Mutation C5 chr9 123782408 123782408 C A g.123782408C>A ENST00000223642.1 c.1352G>T p.Gly451Val missense_variant benign HLE Missense Mutation ABCA2 chr9 139914921 139914921 C T g.139914921C>T ENST00000371605.3 c.1289G>A p.Arg430Gln missense_variant benign HLE Missense Mutation MAMDC2 chr9 72659527 72659527 T C g.72659527T>C ENST00000377182.4 c.62T>C p.Leu21Pro missense_variant possibly damaging HLE Missense Mutation SPATA31E1 chr9 90500169 90500169 C T g.90500169C>T ENST00000325643.5 c.767C>T p.Pro256Leu missense_variant benign HLE Missense Mutation ZCCHC18 chrX 103359488 103359488 G A g.103359488G>A ENST00000537356.3 c.686G>A p.Arg229Gln missense_variant benign HLE Missense Mutation DCAF12L1 chrX 125685390 125685390 T C g.125685390T>C ENST00000371126.1 c.1202A>G p.Lys401Arg missense_variant benign HLE Missense Mutation PTCHD1 chrX 23411676 23411676 G A g.23411676G>A ENST00000379361.4 c.2041G>A p.Val681Ile missense_variant benign HLE Missense Mutation SSX4 chrX 48244823 48244823 C T g.48244823C>T ENST00000375517.3 c.214C>T p.R72C missense_variant benign HLE Missense Mutation SPIN2B chrX 57146330 57146330 C T g.57146330C>T ENST00000275988.5 c.733G>A p.Asp245Asn missense_variant probably damaging HLE Missense Mutation PCDH11X chrX 91133209 91133209 C A g.91133209C>A ENST00000298274.8 c.1970C>A p.Ala657Asp missense_variant probably damaging HLF Missense Mutation COL11A1 chr1 103488388 103488388 T A g.103488388T>A ENST00000370096.3 c.1155A>T p.Glu385Asp missense_variant benign HLF Missense Mutation LRIG2 chr1 113657444 113657444 A G g.113657444A>G ENST00000361127.5 c.2476A>G p.Ile826Val missense_variant benign HLF Missense Mutation IVL chr1 152883501 152883501 G A g.152883501G>A ENST00000368764.3 c.1228G>A p.Glu410Lys missense_variant benign HLF Missense Mutation ADAR chr1 154573823 154573823 A T g.154573823A>T ENST00000368474.4 c.1295T>A p.Leu432Gln missense_variant possibly damaging HLF Missense Mutation GBA chr1 155205599 155205599 T A g.155205599T>A ENST00000327247.5 c.1261A>T p.Asn421Tyr missense_variant probably damaging HLF Missense Mutation RAB25 chr1 156038092 156038092 G A g.156038092G>A ENST00000361084.5 c.271G>A p.Val91Met missense_variant probably damaging HLF Missense Mutation ARHGEF11 chr1 156950243 156950243 C T g.156950243C>T ENST00000361409.2 c.259G>A p.Asp87Asn missense_variant probably damaging HLF Missense Mutation CD84 chr1 160535251 160535251 T C g.160535251T>C ENST00000311224.4 c.331A>G p.Ile111Val missense_variant possibly damaging HLF Missense Mutation PAPPA2 chr1 176659492 176659492 C A g.176659492C>A ENST00000367661.3 c.2357C>A p.Pro786Gln missense_variant probably damaging HLF Missense Mutation LAMC2 chr1 183200111 183200111 C T g.183200111C>T ENST00000264144.4 c.1730C>T p.Pro577Leu missense_variant probably damaging HLF Missense Mutation LGR6 chr1 202287956 202287956 G A g.202287956G>A ENST00000367278.3 c.2525G>A p.Arg842Gln missense_variant possibly damaging HLF Missense Mutation CENPF chr1 214817975 214817975 C A g.214817975C>A ENST00000366955.3 c.5062C>A p.His1688Asn missense_variant benign HLF Missense Mutation RAB3GAP2 chr1 220338086 220338086 T C g.220338086T>C ENST00000358951.2 c.3143A>G p.His1048Arg missense_variant possibly damaging HLF Missense Mutation FBXO28 chr1 224340949 224340949 A G g.224340949A>G ENST00000366862.5 c.622A>G p.Met208Val missense_variant possibly damaging HLF Missense Mutation SNAP47 chr1 227946865 227946865 T C g.227946865T>C ENST00000315781.5 c.802T>C p.Ser268Pro missense_variant probably damaging HLF Missense Mutation OBSCN chr1 228468098 228468098 C T g.228468098C>T ENST00000284548.11 c.7882C>T p.Arg2628Cys missense_variant benign HLF Missense Mutation MAN1C1 chr1 26098153 26098153 G A g.26098153G>A ENST00000374332.4 c.1147G>A p.Val383Ile missense_variant benign HLF Missense Mutation ZSCAN20 chr1 33957092 33957092 C T g.33957092C>T ENST00000361328.3 c.1234C>T p.Arg412Trp missense_variant probably damaging HLF Missense Mutation MACF1 chr1 39818694 39818694 G A g.39818694G>A ENST00000317713.7 c.5029G>A p.Glu1677Lys missense_variant probably damaging HLF Missense Mutation SZT2 chr1 43897471 43897471 G A g.43897471G>A ENST00000562955.1 c.5002G>A p.Ala1668Thr missense_variant benign HLF Missense Mutation FAM151A chr1 55078184 55078184 T G g.55078184T>G ENST00000302250.2 c.775A>C p.Ser259Arg missense_variant probably damaging HLF Missense Mutation TNNI3K chr1 74905204 74905204 A T g.74905204A>T ENST00000326637.3 c.1909A>T p.Thr738Ser missense_variant benign HLF Missense Mutation KIAA1107 chr1 92649681 92649681 G A g.92649681G>A ENST00000370378.4 c.3859G>A p.Ala1287Thr missense_variant probably damaging HLF Missense Mutation AGRN chr1 976885 976885 C A g.976885C>A ENST00000379370.2 c.980C>A p.Pro327Gln missense_variant benign HLF Missense Mutation DCLRE1A chr10 115608842 115608842 T A g.115608842T>A ENST00000361384.2 c.2022A>T p.Lys674Asn missense_variant benign HLF Missense Mutation DOCK1 chr10 128841359 128841359 A G g.128841359A>G ENST00000280333.6 c.2069A>G p.Lys690Arg missense_variant possibly damaging HLF Missense Mutation PLXDC2 chr10 20568669 20568669 G C g.20568669G>C ENST00000377252.4 c.1511G>C p.Arg504Thr missense_variant probably damaging HLF Missense Mutation EBLN1 chr10 22498039 22498039 C A g.22498039C>A ENST00000422359.2 c.874G>T p.Val292Leu missense_variant benign HLF Missense Mutation ANTXRL chr10 47667476 47667476 T A g.47667476T>A ENST00000447511.2 c.496T>A p.Phe166Ile missense_variant benign HLF Missense Mutation TRPC6 chr11 101347173 101347173 C A g.101347173C>A ENST00000344327.3 c.1603G>T p.Ala535Ser missense_variant probably damaging HLF Missense Mutation GRIA4 chr11 105732906 105732906 T C g.105732906T>C ENST00000282499.5 c.644T>C p.Ile215Thr missense_variant benign HLF Missense Mutation BUD13 chr11 116633322 116633322 C T g.116633322C>T ENST00000260210.4 c.983G>A p.Arg328Gln missense_variant benign HLF Missense Mutation KMT2A chr11 118362596 118362596 G A g.118362596G>A ENST00000389506.5 c.4948G>A p.Ala1650Thr missense_variant probably damaging HLF Missense Mutation ABCG4 chr11 119031311 119031311 A G g.119031311A>G ENST00000307417.3 c.1660A>G p.Ser554Gly missense_variant benign HLF Missense Mutation SORL1 chr11 121490622 121490622 A C g.121490622A>C ENST00000260197.7 c.5885A>C p.Asp1962Ala missense_variant possibly damaging HLF Missense Mutation OR8G5 chr11 124134985 124134985 C T g.124134985C>T ENST00000524943.2 c.263C>T p.Ser88Phe missense_variant damaging HLF Missense Mutation DCPS chr11 126215482 126215482 C T g.126215482C>T ENST00000263579.4 c.988C>T p.Leu330Phe missense_variant probably damaging HLF Missense Mutation KIRREL3 chr11 126301231 126301231 C A g.126301231C>A ENST00000525704.2 c.1779G>T p.Gln593His missense_variant damaging HLF Missense Mutation ARHGAP32 chr11 128840937 128840937 C G g.128840937C>G ENST00000310343.9 c.4129G>C p.Ala1377Pro missense_variant possibly damaging HLF Missense Mutation OTOG chr11 17656397 17656397 A G g.17656397A>G ENST00000399397.1 c.7304A>G p.Asn2508Ser missense_variant NA HLF Missense Mutation OTOG chr11 17657204 17657204 G A g.17657204G>A ENST00000399397.1 c.7558G>A p.Ala2593Thr missense_variant possibly damaging HLF Missense Mutation MRGPRX2 chr11 19077769 19077769 T C g.19077769T>C ENST00000329773.2 c.181A>G p.Arg61Gly missense_variant probably damaging HLF Missense Mutation MPPED2 chr11 30516950 30516950 T G g.30516950T>G ENST00000358117.5 c.429A>C p.Lys143Asn missense_variant probably damaging HLF Missense Mutation DCDC5 chr11 30915919 30915919 G A g.30915919G>A NM_020869.3 c.2090C>T p.Ala697Val missense_variant damaging HLF Missense Mutation RRM1 chr11 4159464 4159464 G A g.4159464G>A ENST00000300738.5 c.2230G>A p.Ala744Thr missense_variant possibly damaging HLF Missense Mutation CCDC86 chr11 60615444 60615444 G A g.60615444G>A ENST00000227520.5 c.806G>A p.Arg269Gln missense_variant benign HLF Missense Mutation OR56B3P chr11 6150512 6150512 G A g.6150512G>A ENST00000316517.2 c.673G>A p.V225M missense_variant NA HLF Missense Mutation TBX10 chr11 67400510 67400510 T G g.67400510T>G ENST00000335385.3 c.614A>C p.Lys205Thr missense_variant benign HLF Missense Mutation ARHGEF17 chr11 73073158 73073158 G A g.73073158G>A ENST00000263674.3 c.4568G>A p.Gly1523Asp missense_variant probably damaging HLF Missense Mutation OR10A3 chr11 7960593 7960593 G C g.7960593G>C ENST00000360759.3 c.475C>G p.Gln159Glu missense_variant possibly damaging HLF Missense Mutation NLRP10 chr11 7982050 7982050 C T g.7982050C>T ENST00000328600.2 c.1109G>A p.Arg370Lys missense_variant benign HLF Missense Mutation GRM5 chr11 88386433 88386433 G C g.88386433G>C ENST00000305432.5 c.1050C>G p.His350Gln missense_variant benign HLF Missense Mutation SCUBE2 chr11 9101053 9101053 A T g.9101053A>T ENST00000309263.3 c.260T>A p.Ile87Asn missense_variant possibly damaging HLF Missense Mutation HEPHL1 chr11 93796797 93796797 A G g.93796797A>G ENST00000315765.9 c.539A>G p.Asn180Ser missense_variant possibly damaging HLF Missense Mutation ANO4 chr12 101480543 101480543 G A g.101480543G>A ENST00000392979.3 c.1537G>A p.Val513Ile missense_variant possibly damaging HLF Missense Mutation GNPTAB chr12 102164884 102164884 T C g.102164884T>C ENST00000299314.7 c.823A>G p.Lys275Glu missense_variant benign HLF Missense Mutation ACACB chr12 109604668 109604668 C T g.109604668C>T ENST00000338432.7 c.656C>T p.Pro219Leu (Splice) missense_variant,splice_region_variant possibly damaging HLF Missense Mutation FAM222A chr12 110206569 110206569 G A g.110206569G>A ENST00000358906.3 c.835G>A p.Ala279Thr missense_variant benign HLF Missense Mutation CUX2 chr12 111744875 111744875 G A g.111744875G>A ENST00000261726.6 c.1009G>A p.Asp337Asn missense_variant probably damaging HLF Missense Mutation KSR2 chr12 118293265 118293265 G T g.118293265G>T ENST00000425217.1 c.353C>A p.Ser147Tyr missense_variant possibly damaging HLF Missense Mutation HCAR2 chr12 123187275 123187275 A G g.123187275A>G ENST00000328880.5 c.556T>C p.Phe186Leu missense_variant benign HLF Missense Mutation ZNF664 chr12 124496915 124496915 A G g.124496915A>G ENST00000337815.4 c.224A>G p.Asn75Ser missense_variant benign HLF Missense Mutation ITPR2 chr12 26540381 26540381 C A g.26540381C>A ENST00000381340.3 c.7843G>T p.Ala2615Ser missense_variant possibly damaging HLF Missense Mutation PKP2 chr12 33030861 33030861 T G g.33030861T>G ENST00000070846.6 c.953A>C p.His318Pro missense_variant benign HLF Missense Mutation C12orf5 chr12 4461796 4461796 C T g.4461796C>T ENST00000179259.4 c.752C>T p.Thr251Met missense_variant probably damaging HLF Missense Mutation KMT2D chr12 49426276 49426276 C T g.49426276C>T ENST00000301067.7 c.12212G>A p.Gly4071Glu missense_variant benign HLF Missense Mutation TMBIM6 chr12 50146838 50146838 G A g.50146838G>A ENST00000267115.5 c.139G>A p.Val47Ile missense_variant benign HLF Missense Mutation SLC39A5 chr12 56628681 56628681 C T g.56628681C>T ENST00000266980.4 c.545C>T p.Ala182Val missense_variant probably damaging HLF Missense Mutation LRP1 chr12 57578700 57578700 G A g.57578700G>A ENST00000243077.3 c.6265G>A p.Val2089Met missense_variant possibly damaging HLF Missense Mutation CLLU1 chr12 92818595 92818595 C A g.92818595C>A ENST00000378485.1 c.139C>A p.Leu47Met missense_variant unknown HLF Missense Mutation HAL chr12 96370464 96370464 C G g.96370464C>G ENST00000261208.3 c.1675G>C p.Ala559Pro missense_variant probably damaging HLF Missense Mutation N4BP2L2 chr13 33017742 33017742 T C g.33017742T>C ENST00000399396.3 c.932A>G p.Asp311Gly missense_variant benign HLF Missense Mutation PROSER1 chr13 39586344 39586344 C A g.39586344C>A ENST00000352251.3 c.2588G>T p.Gly863Val missense_variant possibly damaging HLF Missense Mutation ZBTB42 chr14 105268364 105268364 G A g.105268364G>A ENST00000342537.7 c.830G>A p.Gly277Asp missense_variant benign HLF Missense Mutation AHNAK2 chr14 105408982 105408982 T G g.105408982T>G ENST00000333244.5 c.12806A>C p.Glu4269Ala missense_variant possibly damaging HLF Missense Mutation METTL3 chr14 21971875 21971875 G A g.21971875G>A ENST00000298717.4 c.250C>T p.His84Tyr missense_variant benign HLF Missense Mutation AKAP6 chr14 33291067 33291067 G A g.33291067G>A ENST00000280979.4 c.4048G>A p.Ala1350Thr missense_variant benign HLF Missense Mutation WDHD1 chr14 55422333 55422333 T C g.55422333T>C ENST00000360586.3 c.2996A>G p.Asn999Ser missense_variant benign HLF Missense Mutation PELI2 chr14 56763405 56763405 T C g.56763405T>C ENST00000267460.4 c.784T>C p.Phe262Leu missense_variant benign HLF Missense Mutation CCDC175 chr14 59998537 59998537 T C g.59998537T>C ENST00000281581.4 c.1715A>G p.Tyr572Cys missense_variant damaging HLF Missense Mutation ERH chr14 69861548 69861548 T C g.69861548T>C ENST00000555373.1 c.85A>G p.Met29Val missense_variant benign HLF Missense Mutation EML5 chr14 89109254 89109254 A G g.89109254A>G ENST00000554922.1 c.4220T>C p.Leu1407Pro missense_variant probably damaging HLF Missense Mutation TTC7B chr14 91084340 91084340 C T g.91084340C>T ENST00000328459.6 c.1801G>A p.Glu601Lys missense_variant probably damaging HLF Missense Mutation CEP152 chr15 49037097 49037097 G C g.49037097G>C ENST00000380950.2 c.3727C>G p.Pro1243Ala missense_variant probably damaging HLF Missense Mutation CCPG1 chr15 55652274 55652274 A C g.55652274A>C ENST00000310958.6 c.1697T>G p.Phe566Cys missense_variant probably damaging HLF Missense Mutation MNS1 chr15 56748705 56748705 C G g.56748705C>G ENST00000260453.3 c.240G>C p.Lys80Asn missense_variant possibly damaging HLF Missense Mutation NARG2 chr15 60742007 60742007 C G g.60742007C>G ENST00000261520.4 c.1159G>C p.Glu387Gln missense_variant probably damaging HLF Missense Mutation ITGA11 chr15 68603348 68603348 C T g.68603348C>T ENST00000315757.7 c.3158G>A p.Arg1053His missense_variant benign HLF Missense Mutation IL16 chr15 81584945 81584945 A G g.81584945A>G ENST00000302987.4 c.1469A>G p.Lys490Arg missense_variant benign HLF Missense Mutation ZNF592 chr15 85328037 85328037 A G g.85328037A>G ENST00000299927.3 c.2131A>G p.Ile711Val missense_variant benign HLF Missense Mutation HAPLN3 chr15 89430474 89430474 G T g.89430474G>T ENST00000359595.3 c.56C>A p.Pro19His missense_variant probably damaging HLF Missense Mutation TXNDC11 chr16 11815490 11815490 G T g.11815490G>T ENST00000283033.5 c.736C>A p.Pro246Thr missense_variant probably damaging HLF Missense Mutation CACNA1H chr16 1251814 1251814 G A g.1251814G>A ENST00000348261.5 c.1364G>A p.Ser455Asn missense_variant probably damaging HLF Missense Mutation XYLT1 chr16 17228432 17228432 T C g.17228432T>C ENST00000261381.6 c.1925A>G p.His642Arg missense_variant benign HLF Missense Mutation RPL3L chr16 1994887 1994887 T C g.1994887T>C ENST00000268661.7 c.1175A>G p.Gln392Arg missense_variant benign HLF Missense Mutation KDM8 chr16 27231971 27231971 A T g.27231971A>T ENST00000286096.4 c.1171A>T p.Ile391Phe missense_variant possibly damaging HLF Missense Mutation TCEB2 chr16 2821486 2821486 C T g.2821486C>T ENST00000262306.7 c.473G>A p.Arg158His missense_variant benign HLF Missense Mutation ADCY9 chr16 4016924 4016924 G A g.4016924G>A ENST00000294016.3 c.2914C>T p.Arg972Trp missense_variant probably damaging HLF Missense Mutation CYLD chr16 50810131 50810131 A G g.50810131A>G ENST00000311559.9 c.964A>G p.Met322Val missense_variant benign HLF Missense Mutation TSNAXIP1 chr16 67861783 67861783 G C g.67861783G>C ENST00000388833.3 c.1864G>C p.Glu622Gln missense_variant possibly damaging HLF Missense Mutation ZNF23 chr16 71482504 71482504 G T g.71482504G>T ENST00000357254.4 c.1424C>A p.Pro475His missense_variant probably damaging HLF Missense Mutation GSE1 chr16 85704643 85704643 G A g.85704643G>A ENST00000253458.7 c.3458G>A p.Arg1153Gln missense_variant probably damaging HLF Missense Mutation ZNF469 chr16 88503449 88503449 A T g.88503449A>T ENST00000437464.1 c.9487A>T p.Asn3163Tyr missense_variant probably damaging HLF Missense Mutation VPS9D1 chr16 89782988 89782988 G A g.89782988G>A ENST00000389386.3 c.313C>T p.Pro105Ser missense_variant benign HLF Missense Mutation TCF25 chr16 89949883 89949883 C T g.89949883C>T ENST00000263346.8 c.317C>T p.Thr106Met missense_variant possibly damaging HLF Missense Mutation MYH4 chr17 10356206 10356206 A G g.10356206A>G ENST00000255381.2 c.3155T>C p.Leu1052Ser missense_variant possibly damaging HLF Missense Mutation HS3ST3B1 chr17 14205199 14205199 C T g.14205199C>T ENST00000360954.2 c.364C>T p.Pro122Ser missense_variant benign HLF Missense Mutation TEKT3 chr17 15234559 15234559 T G g.15234559T>G ENST00000338696.2 c.344A>C p.His115Pro missense_variant possibly damaging HLF Missense Mutation MPRIP chr17 17039690 17039690 C G g.17039690C>G ENST00000341712.4 c.662C>G p.Pro221Arg missense_variant damaging HLF Missense Mutation DHRS7B chr17 21094405 21094405 G C g.21094405G>C ENST00000395511.3 c.917G>C p.Gly306Ala missense_variant benign HLF Missense Mutation PIPOX chr17 27380461 27380461 C T g.27380461C>T ENST00000323372.4 c.508C>T p.Arg170Cys missense_variant benign HLF Missense Mutation OR3A2 chr17 3181302 3181302 G C g.3181302G>C ENST00000408891.2 c.928C>G p.Leu310Val missense_variant benign HLF Missense Mutation GPR179 chr17 36483792 36483792 T G g.36483792T>G ENST00000342292.4 c.5660A>C p.Gln1887Pro missense_variant benign HLF Missense Mutation MLLT6 chr17 36865472 36865472 C T g.36865472C>T ENST00000325718.7 c.401C>T p.Ser134Leu missense_variant probably damaging HLF Missense Mutation KRTAP4-16P chr17 39258388 39258388 T A g.39258388T>A ENST00000440582.1 c.74A>T p.H25L missense_variant NA HLF Missense Mutation TUBG2 chr17 40817516 40817516 T G g.40817516T>G ENST00000251412.7 c.629T>G p.Leu210Arg missense_variant probably damaging HLF Missense Mutation GOSR2 chr17 45006927 45006927 C A g.45006927C>A ENST00000225567.4 c.71C>A p.Thr24Lys missense_variant benign HLF Missense Mutation COPZ2 chr17 46109560 46109560 G T g.46109560G>T ENST00000006101.4 c.450C>A p.D150E missense_variant possibly damaging HLF Missense Mutation B4GALNT2 chr17 47210159 47210159 C T g.47210159C>T ENST00000393354.2 c.5C>T p.Thr2Ile missense_variant benign HLF Missense Mutation HSF5 chr17 56540432 56540432 C T g.56540432C>T ENST00000323777.3 c.1253G>A p.Ser418Asn missense_variant benign HLF Missense Mutation TEX2 chr17 62232305 62232305 G C g.62232305G>C ENST00000258991.3 c.2848C>G p.Leu950Val missense_variant possibly damaging HLF Missense Mutation ABCA10 chr17 67178923 67178923 A C g.67178923A>C ENST00000269081.4 c.2524T>G p.Ser842Ala missense_variant benign HLF Missense Mutation KCNJ16 chr17 68129249 68129249 G T g.68129249G>T ENST00000283936.1 c.1021G>T p.Ala341Ser missense_variant probably damaging HLF Missense Mutation GRIN2C chr17 72846881 72846881 A G g.72846881A>G ENST00000293190.5 c.1139T>C p.Leu380Pro missense_variant probably damaging HLF Missense Mutation ITGB4 chr17 73751175 73751175 C T g.73751175C>T ENST00000339591.3 c.4388C>T p.Pro1463Leu missense_variant benign HLF Missense Mutation EVPL chr17 74013866 74013866 C T g.74013866C>T ENST00000301607.3 c.1664G>A p.Arg555His missense_variant benign HLF Missense Mutation TP53 chr17 7577550 7577550 C G g.7577550C>G ENST00000269305.4 c.731G>C p.Gly244Ala missense_variant probably damaging HLF Missense Mutation DNAH17 chr17 76491052 76491052 G A g.76491052G>A NM_173628.3 c.6031C>T p.Leu2006Phe missense_variant damaging HLF Missense Mutation PER1 chr17 8046676 8046676 G A g.8046676G>A ENST00000317276.4 c.2980C>T p.Arg994Cys missense_variant probably damaging HLF Missense Mutation PSMG2 chr18 12720558 12720558 A T g.12720558A>T ENST00000317615.6 c.457A>T p.Asn153Tyr missense_variant possibly damaging HLF Missense Mutation TAF4B chr18 23865951 23865951 A G g.23865951A>G ENST00000269142.5 c.1078A>G p.Thr360Ala missense_variant benign HLF Missense Mutation FHOD3 chr18 34205538 34205538 G A g.34205538G>A ENST00000257209.4 c.1022G>A p.Arg341Gln missense_variant probably damaging HLF Missense Mutation NEDD4L chr18 56057917 56057917 C G g.56057917C>G ENST00000400345.3 c.2695C>G p.Leu899Val missense_variant probably damaging HLF Missense Mutation LAMA1 chr18 7012082 7012082 C T g.7012082C>T ENST00000389658.3 c.3419G>A p.Arg1140His missense_variant benign HLF Missense Mutation SOGA2 chr18 8826072 8826072 C T g.8826072C>T ENST00000359865.3 c.4564C>T p.Pro1522Ser missense_variant probably damaging HLF Missense Mutation DNMT1 chr19 10259654 10259654 C T g.10259654C>T ENST00000340748.4 c.2578G>A p.Gly860Arg missense_variant probably damaging HLF Missense Mutation OR1I1 chr19 15198252 15198252 A T g.15198252A>T ENST00000209540.2 c.376A>T p.Ile126Phe missense_variant probably damaging HLF Missense Mutation GDF15 chr19 18499659 18499659 C A g.18499659C>A ENST00000252809.3 c.841C>A p.Pro281Thr missense_variant probably damaging HLF Missense Mutation ELL chr19 18557283 18557283 C T g.18557283C>T ENST00000262809.4 c.1540G>A p.Ala514Thr missense_variant benign HLF Missense Mutation SUGP2 chr19 19121021 19121021 T C g.19121021T>C ENST00000330854.11 c.1981A>G p.Met661Val missense_variant,NMD_transcript_variant possibly damaging HLF Missense Mutation ZNF729 chr19 22498041 22498041 G C g.22498041G>C ENST00000357491.6 c.1822G>C p.A608P missense_variant NA HLF Missense Mutation TSHZ3 chr19 31768462 31768462 G T g.31768462G>T ENST00000240587.4 c.2237C>A p.Pro746His missense_variant probably damaging HLF Missense Mutation GPATCH1 chr19 33597656 33597656 C T g.33597656C>T ENST00000170564.2 c.1136C>T p.Pro379Leu missense_variant probably damaging HLF Missense Mutation GRAMD1A chr19 35512869 35512869 C T g.35512869C>T ENST00000317991.5 c.1768C>T p.Arg590Cys missense_variant benign HLF Missense Mutation CACTIN chr19 3613257 3613257 C T g.3613257C>T ENST00000248420.5 c.1585G>A p.Gly529Arg missense_variant benign HLF Missense Mutation CATSPERG chr19 38851425 38851425 G A g.38851425G>A ENST00000409235.3 c.1822G>A p.Val608Met missense_variant probably damaging HLF Missense Mutation FAM98C chr19 38896264 38896264 G C g.38896264G>C ENST00000252530.5 c.739G>C p.Asp247His missense_variant probably damaging HLF Missense Mutation RYR1 chr19 38958417 38958417 G A g.38958417G>A ENST00000355481.4 c.3346G>A p.Ala1116Thr missense_variant possibly damaging HLF Missense Mutation CCDC155 chr19 49912284 49912284 G A g.49912284G>A ENST00000447857.3 c.1054G>A p.Asp352Asn missense_variant possibly damaging HLF Missense Mutation ZNF528 chr19 52919930 52919930 C G g.52919930C>G ENST00000360465.3 c.1825C>G p.Leu609Val missense_variant benign HLF Missense Mutation TFPT chr19 54613456 54613456 G A g.54613456G>A ENST00000391757.1 c.331C>T p.Arg111Trp missense_variant probably damaging HLF Missense Mutation LILRB5 chr19 54754700 54754700 T C g.54754700T>C ENST00000316219.5 c.1723A>G p.Arg575Gly missense_variant benign HLF Missense Mutation KIR2DL1 chr19 55284970 55284970 T C g.55284970T>C ENST00000291633.7 c.256T>C p.Ser86Pro missense_variant benign HLF Missense Mutation ZNF550 chr19 58059130 58059130 C G g.58059130C>G ENST00000376230.3 c.482G>C p.G161A missense_variant,NMD_transcript_variant benign HLF Missense Mutation FLJ22184 chr19 7935683 7935683 G A g.7935683G>A NM_001190467.1 c.2447C>T p.Ala816Val missense_variant NA HLF Missense Mutation MUC16 chr19 8987281 8987281 G A g.8987281G>A ENST00000397910.4 c.41806C>T p.Arg13936Cys missense_variant probably damaging HLF Missense Mutation MUC16 chr19 9075292 9075292 T A g.9075292T>A ENST00000397910.4 c.12154A>T p.Thr4052Ser missense_variant possibly damaging HLF Missense Mutation CREG2 chr2 102000104 102000104 T C g.102000104T>C ENST00000324768.5 c.502A>G p.Thr168Ala missense_variant probably damaging HLF Missense Mutation NTSR2 chr2 11800228 11800228 C A g.11800228C>A ENST00000306928.5 c.930G>T p.Trp310Cys missense_variant probably damaging HLF Missense Mutation PCDP1 chr2 120369254 120369254 A T g.120369254A>T ENST00000413369.3 c.1247A>T p.D416V missense_variant benign HLF Missense Mutation GLI2 chr2 121746230 121746230 C T g.121746230C>T ENST00000361492.4 c.2740C>T p.Arg914Trp missense_variant probably damaging HLF Missense Mutation DPP4 chr2 162876791 162876791 T C g.162876791T>C ENST00000360534.3 c.1192A>G p.Thr398Ala missense_variant probably damaging HLF Missense Mutation PXDN chr2 1651953 1651953 T C g.1651953T>C ENST00000252804.4 c.3599A>G p.Lys1200Arg missense_variant possibly damaging HLF Missense Mutation ABCB11 chr2 169847323 169847323 C T g.169847323C>T ENST00000263817.6 c.896G>A p.Arg299Lys missense_variant benign HLF Missense Mutation LRP2 chr2 169997008 169997008 C T g.169997008C>T ENST00000263816.3 c.13156G>A p.Gly4386Arg missense_variant possibly damaging HLF Missense Mutation KCNS3 chr2 18113056 18113056 G A g.18113056G>A ENST00000304101.4 c.781G>A p.Val261Ile missense_variant benign HLF Missense Mutation ITGAV chr2 187521117 187521117 G A g.187521117G>A ENST00000261023.3 c.1708G>A p.Ala570Thr missense_variant probably damaging HLF Missense Mutation MSTN chr2 190925069 190925069 G T g.190925069G>T ENST00000260950.4 c.466C>A p.Leu156Ile missense_variant possibly damaging HLF Missense Mutation DNAH7 chr2 196834794 196834794 C T g.196834794C>T ENST00000312428.6 c.2083G>A p.Glu695Lys missense_variant probably damaging HLF Missense Mutation CCDC108 chr2 219892643 219892643 A G g.219892643A>G ENST00000341552.5 c.1940T>C p.Phe647Ser missense_variant probably damaging HLF Missense Mutation COL4A3 chr2 228131784 228131784 A G g.228131784A>G ENST00000396578.3 c.1484A>G p.His495Arg missense_variant probably damaging HLF Missense Mutation ARMC9 chr2 232160926 232160926 G T g.232160926G>T ENST00000349938.4 c.1733G>T p.Gly578Val missense_variant possibly damaging HLF Missense Mutation TRAF3IP1 chr2 239306308 239306308 A G g.239306308A>G ENST00000373327.4 c.1898A>G p.Gln633Arg missense_variant benign HLF Missense Mutation KIF1A chr2 241711989 241711989 T C g.241711989T>C ENST00000404283.3 c.1205A>G p.Lys402Arg (Splice) missense_variant,splice_region_variant benign HLF Missense Mutation ANO7 chr2 242140734 242140734 G C g.242140734G>C ENST00000274979.8 c.738G>C p.Gln246His missense_variant benign HLF Missense Mutation ITSN2 chr2 24524088 24524088 G C g.24524088G>C ENST00000355123.4 c.1016C>G p.Ser339Cys missense_variant benign HLF Missense Mutation POMC chr2 25384377 25384377 T G g.25384377T>G ENST00000264708.3 c.377A>C p.Asp126Ala missense_variant benign HLF Missense Mutation LTBP1 chr2 33518308 33518308 A G g.33518308A>G ENST00000404816.2 c.3194A>G p.His1065Arg missense_variant possibly damaging HLF Missense Mutation CEBPZ chr2 37439056 37439056 T G g.37439056T>G ENST00000234170.5 c.2730A>C p.Glu910Asp missense_variant benign HLF Missense Mutation NDUFAF7 chr2 37474768 37474768 T G g.37474768T>G ENST00000002125.4 c.1106T>G p.Leu369Arg missense_variant probably damaging HLF Missense Mutation ZFP36L2 chr2 43452709 43452709 G T g.43452709G>T ENST00000282388.3 c.234C>A p.Phe78Leu missense_variant benign HLF Missense Mutation THADA chr2 43459929 43459929 G A g.43459929G>A ENST00000405006.4 c.5389C>T p.Pro1797Ser missense_variant benign HLF Missense Mutation THADA chr2 43755034 43755034 T G g.43755034T>G ENST00000405006.4 c.3358A>C p.Thr1120Pro missense_variant probably damaging HLF Missense Mutation SLC3A1 chr2 44539831 44539831 A G g.44539831A>G ENST00000260649.6 c.1439A>G p.Tyr480Cys missense_variant probably damaging HLF Missense Mutation KDM3A chr2 86716530 86716530 A T g.86716530A>T ENST00000312912.5 c.3403A>T p.Ile1135Phe missense_variant probably damaging HLF Missense Mutation SNPH chr20 1286349 1286349 T A g.1286349T>A ENST00000381873.3 c.1136T>A p.Ile379Asn missense_variant possibly damaging HLF Missense Mutation E2F1 chr20 32267592 32267592 C T g.32267592C>T ENST00000343380.5 c.541G>A p.Ala181Thr missense_variant benign HLF Missense Mutation ZNF341 chr20 32379135 32379135 C T g.32379135C>T ENST00000342427.2 c.2356C>T p.Pro786Ser missense_variant benign HLF Missense Mutation PIGU chr20 33225755 33225755 T C g.33225755T>C ENST00000217446.3 c.353A>G p.Gln118Arg missense_variant benign HLF Missense Mutation SOGA1 chr20 35422544 35422544 T C g.35422544T>C ENST00000237536.4 c.3941A>G p.Asp1314Gly missense_variant damaging HLF Missense Mutation EPPIN chr20 44171443 44171443 T C g.44171443T>C ENST00000354280.4 c.287A>G p.Asp96Gly missense_variant probably damaging HLF Missense Mutation ZSWIM3 chr20 44506794 44506794 G A g.44506794G>A ENST00000255152.2 c.1597G>A p.Val533Ile missense_variant benign HLF Missense Mutation SULF2 chr20 46385992 46385992 C T g.46385992C>T ENST00000359930.4 c.116G>A p.Arg39His missense_variant probably damaging HLF Missense Mutation CDH26 chr20 58560134 58560134 G A g.58560134G>A ENST00000244047.5 c.787G>A p.Val263Met missense_variant benign HLF Missense Mutation LAMA5 chr20 60887957 60887957 G A g.60887957G>A ENST00000252999.3 c.9065C>T p.Ser3022Leu missense_variant benign HLF Missense Mutation DNAJC5 chr20 62562301 62562301 C T g.62562301C>T ENST00000360864.4 c.419C>T p.Ala140Val missense_variant benign HLF Missense Mutation NRIP1 chr21 16337822 16337822 C T g.16337822C>T ENST00000318948.4 c.2692G>A p.Glu898Lys missense_variant benign HLF Missense Mutation SH3BGR chr21 40834313 40834313 C G g.40834313C>G ENST00000333634.4 c.247C>G p.Gln83Glu missense_variant probably damaging HLF Missense Mutation TMPRSS3 chr21 43809121 43809121 C T g.43809121C>T ENST00000291532.3 c.239G>A p.Arg80His missense_variant benign HLF Missense Mutation SLC37A1 chr21 43987097 43987097 A C g.43987097A>C ENST00000352133.2 c.1273A>C p.Met425Leu (Splice) missense_variant,splice_region_variant benign HLF Missense Mutation DNMT3L chr21 45681109 45681109 C T g.45681109C>T ENST00000270172.3 c.34G>A p.Glu12Lys missense_variant probably damaging HLF Missense Mutation ARVCF chr22 19960786 19960786 G A g.19960786G>A ENST00000263207.3 c.2294C>T p.Pro765Leu missense_variant benign HLF Missense Mutation C22orf24 chr22 32330241 32330241 T C g.32330241T>C ENST00000248984.3 c.346A>G p.Ile116Val missense_variant benign HLF Missense Mutation MYH9 chr22 36685181 36685181 G A g.36685181G>A ENST00000216181.5 c.4507C>T p.Arg1503Cys missense_variant probably damaging HLF Missense Mutation EIF3D chr22 36912623 36912623 C G g.36912623C>G ENST00000216190.8 c.1108G>C p.Asp370His missense_variant possibly damaging HLF Missense Mutation TRIOBP chr22 38165151 38165151 G A g.38165151G>A ENST00000406386.3 c.6692G>A p.Arg2231His missense_variant probably damaging HLF Missense Mutation MICALL1 chr22 38323483 38323483 G A g.38323483G>A ENST00000215957.6 c.1531G>A p.Val511Met missense_variant probably damaging HLF Missense Mutation MGAT3 chr22 39883605 39883605 C T g.39883605C>T ENST00000341184.6 c.253C>T p.Pro85Ser missense_variant benign HLF Missense Mutation FANCD2 chr3 10108987 10108987 A C g.10108987A>C ENST00000287647.3 c.2480A>C p.Glu827Ala missense_variant probably damaging HLF Missense Mutation CD200R1L chr3 112545910 112545910 G T g.112545910G>T ENST00000398214.1 c.609C>A p.His203Gln missense_variant possibly damaging HLF Missense Mutation COL6A5 chr3 130187674 130187674 C G g.130187674C>G ENST00000265379.6 c.6826C>G p.His2276Asp missense_variant benign HLF Missense Mutation SLCO2A1 chr3 133672567 133672567 C T g.133672567C>T ENST00000310926.4 c.664G>A p.Gly222Arg missense_variant probably damaging HLF Missense Mutation CPB1 chr3 148562321 148562321 C A g.148562321C>A ENST00000282957.4 c.633C>A p.Asp211Glu missense_variant possibly damaging HLF Missense Mutation FNDC3B chr3 172048389 172048389 G A g.172048389G>A ENST00000336824.4 c.1438G>A p.Ala480Thr missense_variant benign HLF Missense Mutation PARL chr3 183547414 183547414 C A g.183547414C>A ENST00000317096.4 c.1112G>T p.Gly371Val missense_variant benign HLF Missense Mutation ABCF3 chr3 183911358 183911358 C T g.183911358C>T ENST00000429586.2 c.2002C>T p.Arg668Cys missense_variant benign HLF Missense Mutation KNG1 chr3 186459469 186459469 A T g.186459469A>T ENST00000265023.4 c.1284A>T p.Arg428Ser missense_variant benign HLF Missense Mutation CCDC50 chr3 191093102 191093102 C T g.191093102C>T ENST00000392456.3 c.700C>T p.Arg234Trp missense_variant benign HLF Missense Mutation MUC4 chr3 195518050 195518050 G A g.195518050G>A ENST00000462323.1 c.401C>T p.Thr134Ile missense_variant,NMD_transcript_variant probably damaging HLF Missense Mutation TFRC chr3 195800925 195800925 T C g.195800925T>C ENST00000360110.4 c.310A>G p.Thr104Ala missense_variant benign HLF Missense Mutation TRAK1 chr3 42244253 42244253 G A g.42244253G>A ENST00000449246.1 c.1531G>A p.Ala511Thr missense_variant benign HLF Missense Mutation CHL1 chr3 436404 436404 A T g.436404A>T ENST00000256509.2 c.2943A>T p.Leu981Phe missense_variant probably damaging HLF Missense Mutation FYCO1 chr3 46005882 46005882 G A g.46005882G>A ENST00000296137.2 c.3215C>T p.Ala1072Val missense_variant probably damaging HLF Missense Mutation ATRIP chr3 48488333 48488333 C G g.48488333C>G ENST00000320211.3 c.84C>G p.His28Gln missense_variant possibly damaging HLF Missense Mutation IP6K2 chr3 48732753 48732753 G A g.48732753G>A ENST00000431721.2 c.137C>T p.Pro49Leu missense_variant benign HLF Missense Mutation LAMB2 chr3 49161697 49161697 C A g.49161697C>A ENST00000305544.4 c.3350G>T p.Arg1117Leu missense_variant benign HLF Missense Mutation DAG1 chr3 49548187 49548187 G A g.49548187G>A ENST00000308775.2 c.220G>A p.Val74Ile missense_variant benign HLF Missense Mutation ALAS1 chr3 52236528 52236528 A G g.52236528A>G ENST00000310271.2 c.205A>G p.Lys69Glu missense_variant benign HLF Missense Mutation CACNA1D chr3 53815692 53815692 G A g.53815692G>A ENST00000350061.5 c.4790G>A p.Gly1597Asp (Splice) missense_variant,splice_region_variant benign HLF Missense Mutation CNTN3 chr3 74347171 74347171 C A g.74347171C>A ENST00000263665.6 c.2338G>T p.Val780Phe missense_variant probably damaging HLF Missense Mutation CLNK chr4 10515101 10515101 C G g.10515101C>G ENST00000226951.6 c.893G>C p.Arg298Thr missense_variant benign HLF Missense Mutation GLRB chr4 158091771 158091771 C G g.158091771C>G ENST00000264428.4 c.1385C>G p.Ala462Gly missense_variant benign HLF Missense Mutation PALLD chr4 169837099 169837099 G A g.169837099G>A ENST00000505667.1 c.2771G>A p.Arg924Gln missense_variant probably damaging HLF Missense Mutation UFSP2 chr4 186329517 186329517 A G g.186329517A>G ENST00000264689.6 c.904T>C p.Cys302Arg missense_variant probably damaging HLF Missense Mutation KIAA1239 chr4 37448745 37448745 A G g.37448745A>G ENST00000309447.5 c.5135A>G p.Asn1712Ser missense_variant benign HLF Missense Mutation YIPF7 chr4 44626750 44626750 C T g.44626750C>T ENST00000332990.5 c.548G>A p.Cys183Tyr missense_variant probably damaging HLF Missense Mutation AASDH chr4 57244447 57244447 T C g.57244447T>C ENST00000205214.6 c.535A>G p.Lys179Glu missense_variant benign HLF Missense Mutation SORCS2 chr4 7640199 7640199 G A g.7640199G>A ENST00000507866.2 c.793G>A p.Ala265Thr missense_variant probably damaging HLF Missense Mutation SLC2A9 chr4 9889247 9889247 G C g.9889247G>C ENST00000264784.3 c.1235C>G p.Pro412Arg missense_variant benign HLF Missense Mutation DDX46 chr5 134109533 134109533 A C g.134109533A>C ENST00000354283.4 c.595A>C p.Ser199Arg missense_variant probably damaging HLF Missense Mutation PCDHA7 chr5 140214301 140214301 A C g.140214301A>C ENST00000378125.3 c.333A>C p.Glu111Asp missense_variant benign HLF Missense Mutation PCDH1 chr5 141243083 141243083 T G g.141243083T>G ENST00000287008.3 c.2813A>C p.Lys938Thr missense_variant probably damaging HLF Missense Mutation SMIM3 chr5 150175145 150175145 A G g.150175145A>G ENST00000526627.1 c.143A>G p.Tyr48Cys missense_variant damaging HLF Missense Mutation FAM71B chr5 156590263 156590263 G A g.156590263G>A ENST00000302938.4 c.1013C>T p.Ser338Leu missense_variant benign HLF Missense Mutation EBF1 chr5 158526428 158526428 A C g.158526428A>C ENST00000313708.6 c.59T>G p.Leu20Arg missense_variant benign HLF Missense Mutation PLEKHG4B chr5 163071 163071 G T g.163071G>T ENST00000283426.6 c.1816G>T p.Ala606Ser missense_variant benign HLF Missense Mutation ZNF354B chr5 178293332 178293332 G C g.178293332G>C ENST00000322434.3 c.121G>C p.Asp41His missense_variant benign HLF Missense Mutation NIPBL chr5 36976160 36976160 A G g.36976160A>G ENST00000282516.8 c.1151A>G p.Asn384Ser missense_variant benign HLF Missense Mutation C5orf42 chr5 37177726 37177726 T A g.37177726T>A ENST00000425232.2 c.5897A>T p.Lys1966Ile missense_variant possibly damaging HLF Missense Mutation MROH2B chr5 41000447 41000447 G A g.41000447G>A ENST00000399564.4 c.4357C>T p.Arg1453Cys missense_variant benign HLF Missense Mutation C6 chr5 41176666 41176666 T A g.41176666T>A ENST00000263413.3 c.1079A>T p.Asp360Val missense_variant possibly damaging HLF Missense Mutation ZNF131 chr5 43175096 43175096 A T g.43175096A>T ENST00000306938.4 c.1631A>T p.Glu544Val missense_variant benign HLF Missense Mutation KIAA0947 chr5 5460878 5460878 C G g.5460878C>G ENST00000296564.7 c.1431C>G p.Asp477Glu missense_variant benign HLF Missense Mutation C5orf64 chr5 60999744 60999744 G A g.60999744G>A ENST00000313303.7 c.277G>A p.Gly93Arg missense_variant benign HLF Missense Mutation TRAPPC3L chr6 116818191 116818191 C T g.116818191C>T ENST00000368602.3 c.472G>A p.Gly158Ser missense_variant probably damaging HLF Missense Mutation IL22RA2 chr6 137482864 137482864 A G g.137482864A>G ENST00000296980.2 c.23T>C p.Leu8Pro missense_variant benign HLF Missense Mutation ADGB chr6 147022135 147022135 G A g.147022135G>A ENST00000397944.3 c.1636G>A p.Val546Ile missense_variant benign HLF Missense Mutation PPIL4 chr6 149833322 149833322 T G g.149833322T>G ENST00000253329.2 c.1196A>C p.Glu399Ala missense_variant benign HLF Missense Mutation KIF13A chr6 17799507 17799507 G T g.17799507G>T ENST00000259711.6 c.2780C>A p.Ser927Tyr missense_variant probably damaging HLF Missense Mutation HIST1H1C chr6 26056290 26056290 C T g.26056290C>T ENST00000343677.2 c.367G>A p.Ala123Thr missense_variant benign HLF Missense Mutation NKAPL chr6 28227610 28227610 T C g.28227610T>C ENST00000343684.3 c.461T>C p.Val154Ala missense_variant benign HLF Missense Mutation VARS2 chr6 30890300 30890300 C T g.30890300C>T ENST00000321897.5 c.2006C>T p.Pro669Leu missense_variant probably damaging HLF Missense Mutation ENPP5 chr6 46135579 46135579 C T g.46135579C>T ENST00000230565.3 c.421G>A p.Gly141Arg missense_variant probably damaging HLF Missense Mutation ENPP5 chr6 46135606 46135606 G A g.46135606G>A ENST00000230565.3 c.394C>T p.His132Tyr missense_variant benign HLF Missense Mutation GSTA4 chr6 52847431 52847431 T C g.52847431T>C ENST00000370959.1 c.487A>G p.Thr163Ala missense_variant benign HLF Missense Mutation GCLC chr6 53387280 53387280 G A g.53387280G>A ENST00000229416.6 c.196C>T p.Arg66Trp missense_variant possibly damaging HLF Missense Mutation EYS chr6 65301733 65301733 C T g.65301733C>T ENST00000370616.2 c.4027G>A p.Ala1343Thr missense_variant benign HLF Missense Mutation FAM135A chr6 71190665 71190665 T G g.71190665T>G ENST00000361499.3 c.604T>G p.Ser202Ala missense_variant probably damaging HLF Missense Mutation PNISR chr6 99849102 99849102 G A g.99849102G>A ENST00000369239.5 c.1732C>T p.Arg578Cys missense_variant probably damaging HLF Missense Mutation RELN chr7 103275923 103275923 A T g.103275923A>T ENST00000343529.5 c.2414T>A p.Ile805Lys missense_variant probably damaging HLF Missense Mutation PTPRZ1 chr7 121651858 121651858 C T g.121651858C>T ENST00000393386.2 c.2758C>T p.Arg920Cys missense_variant possibly damaging HLF Missense Mutation SDK1 chr7 3991394 3991394 G A g.3991394G>A ENST00000389531.3 c.992G>A p.Arg331Lys missense_variant probably damaging HLF Missense Mutation C7orf25 chr7 42949289 42949289 T C g.42949289T>C ENST00000350427.4 c.1211A>G p.Lys404Arg missense_variant probably damaging HLF Missense Mutation SEPT14 chr7 55902144 55902144 C G g.55902144C>G ENST00000388975.3 c.694G>C p.Ala232Pro missense_variant benign HLF Missense Mutation RP1L1 chr8 10467335 10467335 C G g.10467335C>G ENST00000382483.3 c.4273G>C p.Asp1425His missense_variant probably damaging HLF Missense Mutation RIMS2 chr8 104897973 104897973 G T g.104897973G>T ENST00000436393.2 c.480G>T p.Arg160Ser missense_variant benign HLF Missense Mutation DPYS chr8 105440299 105440299 T C g.105440299T>C ENST00000351513.2 c.1001A>G p.Gln334Arg missense_variant probably damaging HLF Missense Mutation TRHR chr8 110131639 110131639 T A g.110131639T>A ENST00000311762.2 c.1152T>A p.Phe384Leu missense_variant benign HLF Missense Mutation GATA4 chr8 11614514 11614514 C G g.11614514C>G ENST00000335135.4 c.1068C>G p.Ser356Arg missense_variant benign HLF Missense Mutation KIAA0196 chr8 126061369 126061369 C T g.126061369C>T ENST00000318410.7 c.2258G>A p.Arg753His missense_variant probably damaging HLF Missense Mutation ZC3H3 chr8 144621242 144621242 G A g.144621242G>A ENST00000262577.5 c.295C>T p.Arg99Trp missense_variant probably damaging HLF Missense Mutation TIGD5 chr8 144681790 144681790 G A g.144681790G>A ENST00000504548.2 c.1717G>A p.Asp573Asn missense_variant benign HLF Missense Mutation CCDC166 chr8 144790254 144790254 G A g.144790254G>A ENST00000542437.1 c.26C>T p.Pro9Leu missense_variant benign HLF Missense Mutation MAPK15 chr8 144803962 144803962 C T g.144803962C>T ENST00000338033.4 c.1370C>T p.Ser457Phe missense_variant possibly damaging HLF Missense Mutation OPLAH chr8 145112971 145112971 C T g.145112971C>T ENST00000426825.1 c.1030G>A p.A344T missense_variant probably damaging HLF Missense Mutation PPP1R16A chr8 145726915 145726915 G A g.145726915G>A ENST00000292539.4 c.1216G>A p.Glu406Lys missense_variant possibly damaging HLF Missense Mutation ZNF596 chr8 195413 195413 A C g.195413A>C ENST00000308811.4 c.566A>C p.His189Pro missense_variant possibly damaging HLF Missense Mutation ADAM18 chr8 39550188 39550188 A C g.39550188A>C ENST00000265707.5 c.1891A>C p.Lys631Gln missense_variant benign HLF Missense Mutation CLVS1 chr8 62370911 62370911 C A g.62370911C>A ENST00000325897.4 c.787C>A p.His263Asn missense_variant benign HLF Missense Mutation CNGB3 chr8 87641258 87641258 C T g.87641258C>T ENST00000320005.5 c.1369G>A p.Ala457Thr missense_variant benign HLF Missense Mutation ALG2 chr9 101980781 101980781 A G g.101980781A>G ENST00000476832.1 c.686T>C p.Leu229Pro missense_variant probably damaging HLF Missense Mutation ALG2 chr9 101980784 101980784 A T g.101980784A>T ENST00000476832.1 c.683T>A p.Leu228Gln missense_variant possibly damaging HLF Missense Mutation NR4A3 chr9 102595054 102595054 G C g.102595054G>C ENST00000338488.4 c.1035G>C p.Gln345His missense_variant probably damaging HLF Missense Mutation C5 chr9 123782408 123782408 C A g.123782408C>A ENST00000223642.1 c.1352G>T p.Gly451Val missense_variant benign HLF Missense Mutation ABCA2 chr9 139914921 139914921 C T g.139914921C>T ENST00000371605.3 c.1289G>A p.Arg430Gln missense_variant benign HLF Missense Mutation MAMDC2 chr9 72659527 72659527 T C g.72659527T>C ENST00000377182.4 c.62T>C p.Leu21Pro missense_variant possibly damaging HLF Missense Mutation SPATA31E1 chr9 90500169 90500169 C T g.90500169C>T ENST00000325643.5 c.767C>T p.Pro256Leu missense_variant benign HLF Missense Mutation ZCCHC18 chrX 103359488 103359488 G A g.103359488G>A ENST00000537356.3 c.686G>A p.Arg229Gln missense_variant benign HLF Missense Mutation DCAF12L1 chrX 125685390 125685390 T C g.125685390T>C ENST00000371126.1 c.1202A>G p.Lys401Arg missense_variant benign HLF Missense Mutation PTCHD1 chrX 23411676 23411676 G A g.23411676G>A ENST00000379361.4 c.2041G>A p.Val681Ile missense_variant benign HLF Missense Mutation SSX4 chrX 48244823 48244823 C T g.48244823C>T ENST00000375517.3 c.214C>T p.R72C missense_variant benign HLF Missense Mutation SPIN2B chrX 57146330 57146330 C T g.57146330C>T ENST00000275988.5 c.733G>A p.Asp245Asn missense_variant probably damaging HLF Missense Mutation PCDH11X chrX 91133209 91133209 C A g.91133209C>A ENST00000298274.8 c.1970C>A p.Ala657Asp missense_variant probably damaging Huh6 Missense Mutation AMPD1 chr1 115238109 115238109 G A g.115238109G>A ENST00000369538.3 c.83C>T p.Ser28Leu missense_variant damaging Huh6 Missense Mutation NPPB chr1 11918421 11918421 G A g.11918421G>A ENST00000376468.3 c.238C>T p.Arg80Trp missense_variant possibly damaging Huh6 Missense Mutation MFN2 chr1 12064980 12064980 G A g.12064980G>A ENST00000235329.5 c.1491G>A p.Met497Ile missense_variant benign Huh6 Missense Mutation SCNN1D chr1 1219428 1219428 C T g.1219428C>T ENST00000379101.4 c.422C>T p.Thr141Met missense_variant,NMD_transcript_variant benign Huh6 Missense Mutation GLTPD1 chr1 1263017 1263017 G C g.1263017G>C ENST00000343938.4 c.519G>C p.Glu173Asp missense_variant benign Huh6 Missense Mutation PRAMEF1 chr1 12854528 12854528 T C g.12854528T>C ENST00000332296.7 c.752T>C p.Leu251Pro missense_variant possibly damaging Huh6 Missense Mutation PRDM2 chr1 14108437 14108437 G A g.14108437G>A ENST00000235372.7 c.4147G>A p.Val1383Met missense_variant probably damaging Huh6 Missense Mutation POLR3C chr1 145597044 145597044 G A g.145597044G>A ENST00000334163.3 c.1081C>T p.Arg361Cys missense_variant probably damaging Huh6 Missense Mutation ANP32E chr1 150199042 150199042 C A g.150199042C>A ENST00000314136.8 c.579G>T p.Glu193Asp missense_variant benign Huh6 Missense Mutation NUP210L chr1 154026847 154026847 C T g.154026847C>T ENST00000271854.3 c.3340G>A p.Val1114Ile missense_variant benign Huh6 Missense Mutation HAX1 chr1 154247666 154247666 C T g.154247666C>T ENST00000328703.7 c.593C>T p.Pro198Leu missense_variant possibly damaging Huh6 Missense Mutation PKLR chr1 155270674 155270674 T C g.155270674T>C ENST00000392414.3 c.5A>G p.Glu2Gly (Splice) missense_variant,splice_region_variant benign Huh6 Missense Mutation PRCC chr1 156737907 156737907 C T g.156737907C>T ENST00000271526.4 c.344C>T p.Pro115Leu missense_variant benign Huh6 Missense Mutation FHAD1 chr1 15675557 15675557 C T g.15675557C>T ENST00000358897.4 c.2300C>T p.Ala767Val missense_variant possibly damaging Huh6 Missense Mutation SH2D2A chr1 156777059 156777059 C T g.156777059C>T ENST00000368199.3 c.1081G>A p.Ala361Thr missense_variant benign Huh6 Missense Mutation VSIG8 chr1 159827753 159827753 C T g.159827753C>T ENST00000368100.1 c.434G>A p.Arg145Gln missense_variant probably damaging Huh6 Missense Mutation POGK chr1 166816764 166816764 G A g.166816764G>A ENST00000367875.1 c.293G>A p.Arg98His missense_variant possibly damaging Huh6 Missense Mutation DUSP27 chr1 167096794 167096794 C T g.167096794C>T ENST00000271385.5 c.2426C>T p.Ala809Val missense_variant benign Huh6 Missense Mutation PADI3 chr1 17586111 17586111 G C g.17586111G>C ENST00000375460.3 c.131G>C p.Gly44Ala missense_variant probably damaging Huh6 Missense Mutation XPR1 chr1 180849367 180849367 G A g.180849367G>A ENST00000367590.4 c.1964G>A p.Arg655His missense_variant probably damaging Huh6 Missense Mutation PLA2G4A chr1 186925434 186925434 C A g.186925434C>A ENST00000367466.3 c.1537C>A p.Gln513Lys missense_variant benign Huh6 Missense Mutation LHX9 chr1 197890570 197890570 G A g.197890570G>A ENST00000337020.2 c.514G>A p.Asp172Asn missense_variant possibly damaging Huh6 Missense Mutation PHLDA3 chr1 201437568 201437568 G A g.201437568G>A ENST00000367309.1 c.347C>T p.Ala116Val missense_variant probably damaging Huh6 Missense Mutation VWA5B1 chr1 20659375 20659375 C A g.20659375C>A ENST00000289815.8 c.1689C>A p.Phe563Leu missense_variant probably damaging Huh6 Missense Mutation LPGAT1 chr1 212002468 212002468 G C g.212002468G>C ENST00000366996.1 c.171C>G p.Ile57Met missense_variant possibly damaging Huh6 Missense Mutation NENF chr1 212617723 212617723 A G g.212617723A>G ENST00000366988.3 c.281A>G p.Lys94Arg missense_variant benign Huh6 Missense Mutation NSL1 chr1 212911778 212911778 C T g.212911778C>T ENST00000366977.3 c.818G>A p.Arg273Gln missense_variant possibly damaging Huh6 Missense Mutation HSPG2 chr1 22174196 22174196 G C g.22174196G>C ENST00000374695.3 c.8011C>G p.P2671A missense_variant probably damaging Huh6 Missense Mutation OBSCN chr1 228459896 228459896 G A g.228459896G>A ENST00000570156.2 c.5960G>A p.R1987Q missense_variant NA Huh6 Missense Mutation OBSCN chr1 228481122 228481122 C T g.228481122C>T ENST00000284548.11 c.10936C>T p.Arg3646Trp missense_variant benign Huh6 Missense Mutation OR2W3 chr1 248059098 248059098 C G g.248059098C>G ENST00000360358.3 c.210C>G p.Asp70Glu missense_variant probably damaging Huh6 Missense Mutation RHCE chr1 25735270 25735270 T C g.25735270T>C ENST00000243186.6 c.239A>G p.Asn80Ser missense_variant probably damaging Huh6 Missense Mutation AIM1L chr1 26670238 26670238 A T g.26670238A>T NM_001039775.3 c.2911T>A p.Trp971Arg (Splice) missense_variant,splice_region_variant damaging Huh6 Missense Mutation CSMD2 chr1 34128652 34128652 C T g.34128652C>T ENST00000241312.4 c.3973G>A p.Val238Met missense_variant,NMD_transcript_variant probably damaging Huh6 Missense Mutation DMAP1 chr1 44685926 44685926 C T g.44685926C>T ENST00000315913.5 c.1289C>T p.Pro430Leu missense_variant benign Huh6 Missense Mutation BEST4 chr1 45250362 45250362 T G g.45250362T>G ENST00000372207.3 c.1087A>C p.Thr363Pro missense_variant probably damaging Huh6 Missense Mutation MAST2 chr1 46501386 46501386 A G g.46501386A>G ENST00000361297.2 c.5045A>G p.Asn1682Ser missense_variant benign Huh6 Missense Mutation EPS15 chr1 51938542 51938542 T C g.51938542T>C ENST00000371730.2 c.154A>G p.Ile52Val missense_variant benign Huh6 Missense Mutation ORC1 chr1 52862023 52862023 G A g.52862023G>A ENST00000371566.1 c.416C>T p.Ala139Val missense_variant possibly damaging Huh6 Missense Mutation C8A chr1 57378188 57378188 G A g.57378188G>A ENST00000361249.3 c.1493G>A p.Arg498Gln missense_variant probably damaging Huh6 Missense Mutation ST6GALNAC3 chr1 77093195 77093195 G A g.77093195G>A ENST00000328299.3 c.682G>A p.Ala228Thr missense_variant possibly damaging Huh6 Missense Mutation BARHL2 chr1 91182182 91182182 T C g.91182182T>C ENST00000370445.4 c.571A>G p.Ser191Gly missense_variant benign Huh6 Missense Mutation AGRN chr1 986963 986963 C T g.986963C>T ENST00000379370.2 c.5501C>T p.Pro1834Leu missense_variant probably damaging Huh6 Missense Mutation PKD2L1 chr10 102050206 102050206 G A g.102050206G>A ENST00000318222.3 c.2078C>T p.Pro693Leu missense_variant benign Huh6 Missense Mutation HIF1AN chr10 102295720 102295720 C T g.102295720C>T ENST00000299163.6 c.5C>T p.Ala2Val missense_variant benign Huh6 Missense Mutation CCDC168 chr13 103390991 103390991 T A g.103390991T>A NM_001146197.1 c.12056A>T p.Lys4019Met missense_variant unknown Huh6 Missense Mutation GRK5 chr10 121196209 121196209 T C g.121196209T>C ENST00000392870.2 c.785T>C p.Val262Ala missense_variant probably damaging Huh6 Missense Mutation C10orf120 chr10 124457323 124457323 C A g.124457323C>A ENST00000329446.4 c.934G>T p.Val312Phe missense_variant benign Huh6 Missense Mutation SYCE1 chr10 135369378 135369378 C G g.135369378C>G ENST00000303903.6 c.625G>C p.Val209Leu missense_variant probably damaging Huh6 Missense Mutation CUBN chr10 16916380 16916380 C T g.16916380C>T ENST00000377833.4 c.9229G>A p.Glu3077Lys missense_variant benign Huh6 Missense Mutation WAC chr10 28900728 28900728 G A g.28900728G>A ENST00000354911.4 c.1314G>A p.Met438Ile missense_variant benign Huh6 Missense Mutation LYZL1 chr10 29581550 29581550 C G g.29581550C>G ENST00000375500.3 c.380C>G p.Ala127Gly missense_variant benign Huh6 Missense Mutation RET chr10 43607612 43607612 G A g.43607612G>A ENST00000340058.5 c.1588G>A p.Glu530Lys missense_variant possibly damaging Huh6 Missense Mutation FAM208B chr10 5789768 5789768 G A g.5789768G>A ENST00000328090.5 c.4384G>A p.Val1462Met missense_variant benign Huh6 Missense Mutation FAM208B chr10 5790116 5790116 C T g.5790116C>T ENST00000328090.5 c.4732C>T p.Pro1578Ser missense_variant benign Huh6 Missense Mutation CDH23 chr10 73544772 73544772 G A g.73544772G>A NM_022124.5 c.5627G>A p.Ser1876Asn missense_variant possibly damaging Huh6 Missense Mutation TTC18 chr10 75072373 75072373 T C g.75072373T>C ENST00000310715.3 c.1151A>G p.Asp384Gly missense_variant possibly damaging Huh6 Missense Mutation ANXA7 chr10 75139678 75139678 C T g.75139678C>T ENST00000372921.5 c.1124G>A p.Arg375His missense_variant probably damaging Huh6 Missense Mutation ANXA7 chr10 75139901 75139901 C T g.75139901C>T ENST00000372921.5 c.977G>A p.Arg326His missense_variant probably damaging Huh6 Missense Mutation AMPD3 chr11 10521792 10521792 C T g.10521792C>T ENST00000396554.3 c.1744C>T p.Arg582Cys missense_variant probably damaging Huh6 Missense Mutation ELMOD1 chr11 107526745 107526745 A G g.107526745A>G ENST00000265840.7 c.785A>G p.Asn262Ser missense_variant possibly damaging Huh6 Missense Mutation USP28 chr11 113683102 113683102 T C g.113683102T>C ENST00000003302.4 c.1868A>G p.Glu623Gly missense_variant probably damaging Huh6 Missense Mutation GALNT18 chr11 11394173 11394173 G T g.11394173G>T ENST00000227756.4 c.981C>A p.Ser327Arg missense_variant possibly damaging Huh6 Missense Mutation BUD13 chr11 116633763 116633763 C T g.116633763C>T ENST00000260210.4 c.542G>A p.Arg181His missense_variant benign Huh6 Missense Mutation KMT2A chr11 118370084 118370084 A G g.118370084A>G ENST00000389506.5 c.6019A>G p.Arg2007Gly missense_variant probably damaging Huh6 Missense Mutation SAAL1 chr11 18111041 18111041 C G g.18111041C>G ENST00000300013.4 c.606G>C p.Lys202Asn missense_variant possibly damaging Huh6 Missense Mutation SYT8 chr11 1858557 1858557 C T g.1858557C>T ENST00000381968.3 c.1102C>T p.Arg368Trp missense_variant probably damaging Huh6 Missense Mutation TSPAN32 chr11 2334950 2334950 G A g.2334950G>A ENST00000182290.4 c.421G>A p.Val141Ile missense_variant benign Huh6 Missense Mutation MRGPRE chr11 3249446 3249446 G T g.3249446G>T ENST00000436689.2 c.581C>A p.Ala195Asp missense_variant possibly damaging Huh6 Missense Mutation NUP98 chr11 3723774 3723774 T C g.3723774T>C ENST00000324932.7 c.3431A>G p.Asn1144Ser missense_variant benign Huh6 Missense Mutation GYLTL1B chr11 45948363 45948363 T A g.45948363T>A ENST00000325468.5 c.1266T>A p.His422Gln missense_variant benign Huh6 Missense Mutation MADD chr11 47304517 47304517 A G g.47304517A>G ENST00000311027.5 c.1859A>G p.Asp620Gly missense_variant possibly damaging Huh6 Missense Mutation PTPRJ chr11 48177636 48177636 A G g.48177636A>G ENST00000418331.2 c.3403A>G p.Ile1135Val missense_variant possibly damaging Huh6 Missense Mutation MMP26 chr11 5013346 5013346 C A g.5013346C>A ENST00000300762.1 c.748C>A p.His250Asn missense_variant benign Huh6 Missense Mutation OR5D13 chr11 55541761 55541761 C T g.55541761C>T ENST00000361760.1 c.848C>T p.Ala283Val missense_variant benign Huh6 Missense Mutation C11orf35 chr11 556943 556943 G A g.556943G>A ENST00000329451.3 c.868C>T p.Pro290Ser missense_variant benign Huh6 Missense Mutation OR52N5 chr11 5799641 5799641 A G g.5799641A>G ENST00000317093.2 c.224T>C p.Leu75Pro missense_variant probably damaging Huh6 Missense Mutation OR52N2 chr11 5841908 5841908 G T g.5841908G>T ENST00000317037.2 c.343G>T p.Gly115Trp missense_variant probably damaging Huh6 Missense Mutation OR52E4 chr11 5905892 5905892 C T g.5905892C>T ENST00000316987.2 c.370C>T p.Arg124Cys missense_variant benign Huh6 Missense Mutation MS4A12 chr11 60271249 60271249 A C g.60271249A>C ENST00000016913.4 c.547A>C p.Met183Leu missense_variant benign Huh6 Missense Mutation SLC22A9 chr11 63176159 63176159 T C g.63176159T>C ENST00000279178.3 c.1409T>C p.Met470Thr missense_variant benign Huh6 Missense Mutation CDC42BPG chr11 64600134 64600134 C T g.64600134C>T ENST00000342711.5 c.2947G>A p.Ala983Thr missense_variant probably damaging Huh6 Missense Mutation ZNHIT2 chr11 64884275 64884275 C T g.64884275C>T ENST00000310597.4 c.851G>A p.Arg284Gln missense_variant probably damaging Huh6 Missense Mutation RNASEH2C chr11 65487601 65487601 C A g.65487601C>A ENST00000308418.4 c.383G>T p.Arg128Leu missense_variant benign Huh6 Missense Mutation DNHD1 chr11 6554316 6554316 A T g.6554316A>T ENST00000254579.6 c.2407A>T p.Asn803Tyr missense_variant benign Huh6 Missense Mutation BBS1 chr11 66299152 66299152 A G g.66299152A>G ENST00000318312.7 c.1634A>G p.Asn545Ser missense_variant benign Huh6 Missense Mutation RPS6KB2 chr11 67202161 67202161 G A g.67202161G>A ENST00000312629.5 c.1264G>A p.Val422Ile missense_variant benign Huh6 Missense Mutation OR2D2 chr11 6913349 6913349 T C g.6913349T>C ENST00000299459.2 c.383A>G p.Asn128Ser missense_variant benign Huh6 Missense Mutation ARAP1 chr11 72423607 72423607 G A g.72423607G>A ENST00000359373.5 c.754C>T p.Pro252Ser missense_variant benign Huh6 Missense Mutation PAAF1 chr11 73620546 73620546 G C g.73620546G>C ENST00000310571.3 c.635G>C p.Gly212Ala missense_variant benign Huh6 Missense Mutation RSF1 chr11 77386245 77386245 G A g.77386245G>A ENST00000308488.6 c.3398C>T p.Pro1133Leu missense_variant possibly damaging Huh6 Missense Mutation TENM4 chr11 78601063 78601063 T G g.78601063T>G ENST00000278550.7 c.851A>C p.His284Pro (Splice) missense_variant,splice_region_variant possibly damaging Huh6 Missense Mutation TENM4 chr11 78614541 78614541 G A g.78614541G>A ENST00000278550.7 c.521C>T p.Ala174Val missense_variant benign Huh6 Missense Mutation FAT3 chr11 92533669 92533669 C T g.92533669C>T ENST00000298047.6 c.7490C>T p.Ser2497Leu missense_variant probably damaging Huh6 Missense Mutation FAT3 chr11 92615933 92615933 G C g.92615933G>C ENST00000298047.6 c.12311G>C p.Arg4104Pro missense_variant possibly damaging Huh6 Missense Mutation STYK1 chr12 10772876 10772876 C T g.10772876C>T ENST00000075503.3 c.1136G>A p.Arg379His missense_variant probably damaging Huh6 Missense Mutation PRDM4 chr12 108136016 108136016 C G g.108136016C>G ENST00000228437.5 c.1591G>C p.Asp531His missense_variant probably damaging Huh6 Missense Mutation UNC119B chr12 121157726 121157726 G A g.121157726G>A ENST00000344651.4 c.647G>A p.Arg216His missense_variant benign Huh6 Missense Mutation DHX37 chr12 125451413 125451413 C T g.125451413C>T ENST00000308736.2 c.1516G>A p.Asp506Asn missense_variant benign Huh6 Missense Mutation RIMBP2 chr12 130934799 130934799 T C g.130934799T>C ENST00000261655.4 c.476A>G p.Asn159Ser missense_variant benign Huh6 Missense Mutation KIAA1467 chr12 13224310 13224310 T A g.13224310T>A ENST00000197268.8 c.1504T>A p.Ser502Thr missense_variant benign Huh6 Missense Mutation CACNA1C chr12 2795380 2795380 G A g.2795380G>A ENST00000347598.4 c.5873G>A p.Arg1958Gln missense_variant benign Huh6 Missense Mutation KIF21A chr12 39752098 39752098 T C g.39752098T>C ENST00000361418.5 c.1097A>G p.Asn366Ser missense_variant possibly damaging Huh6 Missense Mutation CNTN1 chr12 41408036 41408036 A G g.41408036A>G ENST00000347616.1 c.2120A>G p.Asn707Ser missense_variant benign Huh6 Missense Mutation IRAK4 chr12 44166730 44166730 C T g.44166730C>T ENST00000448290.2 c.506C>T p.Ser169Leu missense_variant benign Huh6 Missense Mutation NCKAP5L chr12 50187159 50187159 G T g.50187159G>T ENST00000335999.6 c.3316C>A p.Pro1106Thr missense_variant benign Huh6 Missense Mutation NEUROD4 chr12 55420957 55420957 G A g.55420957G>A ENST00000242994.3 c.734G>A p.Ser245Asn missense_variant possibly damaging Huh6 Missense Mutation OR6C75 chr12 55759499 55759499 T C g.55759499T>C ENST00000343399.3 c.605T>C p.Val202Ala missense_variant benign Huh6 Missense Mutation CLEC4C chr12 7899011 7899011 G A g.7899011G>A ENST00000360345.3 c.40C>T p.Leu14Phe missense_variant benign Huh6 Missense Mutation NALCN chr13 102029358 102029358 A G g.102029358A>G ENST00000251127.6 c.425T>C p.Leu142Ser missense_variant probably damaging Huh6 Missense Mutation CCDC168 chr13 103387361 103387361 C T g.103387361C>T NM_001146197.1 c.15686G>A p.Arg5229Lys missense_variant possibly damaging Huh6 Missense Mutation TNFSF13B chr13 108922484 108922484 G T g.108922484G>T ENST00000375887.4 c.241G>T p.Ala81Ser missense_variant benign Huh6 Missense Mutation CARS2 chr13 111319726 111319726 G A g.111319726G>A ENST00000257347.4 c.880C>T p.His294Tyr missense_variant possibly damaging Huh6 Missense Mutation CENPJ chr13 25487148 25487148 T C g.25487148T>C ENST00000381884.4 c.16A>G p.Thr6Ala missense_variant benign Huh6 Missense Mutation SHISA2 chr13 26620695 26620695 G A g.26620695G>A ENST00000319420.3 c.844C>T p.His282Tyr missense_variant probably damaging Huh6 Missense Mutation CDX2 chr13 28537283 28537283 C G g.28537283C>G ENST00000381020.7 c.911G>C p.Gly304Ala missense_variant benign Huh6 Missense Mutation PDS5B chr13 33252994 33252994 A G g.33252994A>G ENST00000315596.10 c.985A>G p.Ile329Val missense_variant benign Huh6 Missense Mutation TRPC4 chr13 38266372 38266372 C G g.38266372C>G ENST00000355779.2 c.998G>C p.Cys333Ser missense_variant probably damaging Huh6 Missense Mutation HHIPL1 chr14 100135185 100135185 G A g.100135185G>A ENST00000357223.2 c.1747G>A p.Ala583Thr missense_variant benign Huh6 Missense Mutation XRCC3 chr14 104173384 104173384 C T g.104173384C>T ENST00000352127.7 c.362G>A p.Cys121Tyr missense_variant probably damaging Huh6 Missense Mutation ASPG chr14 104563918 104563918 G A g.104563918G>A ENST00000455920.2 c.457G>A p.Gly153Ser missense_variant probably damaging Huh6 Missense Mutation C14orf80 chr14 105964213 105964213 C T g.105964213C>T ENST00000392523.4 c.1057C>T p.Arg353Cys missense_variant benign Huh6 Missense Mutation BAZ1A chr14 35240805 35240805 T A g.35240805T>A ENST00000360310.1 c.3213A>T p.Gln1071His missense_variant probably damaging Huh6 Missense Mutation DAAM1 chr14 59789882 59789882 A G g.59789882A>G ENST00000351081.1 c.713A>G p.Lys238Arg missense_variant benign Huh6 Missense Mutation SYNE2 chr14 64688402 64688402 G A g.64688402G>A ENST00000344113.4 c.20101G>A p.Glu6701Lys missense_variant possibly damaging Huh6 Missense Mutation FAM161B chr14 74407695 74407695 G A g.74407695G>A ENST00000534936.1 c.1334C>T p.Ser445Phe missense_variant probably damaging Huh6 Missense Mutation PROX2 chr14 75330444 75330444 G C g.75330444G>C ENST00000445876.1 c.94C>G p.Pro32Ala missense_variant benign Huh6 Missense Mutation NRXN3 chr14 79433576 79433576 G A g.79433576G>A ENST00000335750.5 c.1684G>A p.Gly562Arg missense_variant probably damaging Huh6 Missense Mutation TRIP11 chr14 92470258 92470258 T G g.92470258T>G ENST00000267622.4 c.4062A>C p.Lys1354Asn missense_variant benign Huh6 Missense Mutation GOLGA5 chr14 93286137 93286137 G A g.93286137G>A ENST00000163416.2 c.1576G>A p.Ala526Thr missense_variant benign Huh6 Missense Mutation ASB2 chr14 94417380 94417380 C T g.94417380C>T ENST00000315988.4 c.701G>A p.Gly234Glu missense_variant probably damaging Huh6 Missense Mutation ADAMTS17 chr15 100657192 100657192 G A g.100657192G>A ENST00000268070.4 c.1748C>T p.Pro583Leu missense_variant benign Huh6 Missense Mutation C15orf57 chr15 40854985 40854985 T C g.40854985T>C ENST00000358005.3 c.230A>G p.Tyr77Cys missense_variant probably damaging Huh6 Missense Mutation RPUSD2 chr15 40861769 40861769 A G g.40861769A>G ENST00000315616.7 c.233A>G p.Glu78Gly missense_variant benign Huh6 Missense Mutation C15orf62 chr15 41062773 41062773 G A g.41062773G>A ENST00000344320.6 c.80G>A p.Arg27Gln missense_variant benign Huh6 Missense Mutation CHAC1 chr15 41245669 41245669 A T g.41245669A>T ENST00000444189.2 c.14A>T p.Gln5Leu missense_variant possibly damaging Huh6 Missense Mutation EPB42 chr15 43507389 43507389 C T g.43507389C>T ENST00000441366.2 c.334G>A p.Ala112Thr missense_variant probably damaging Huh6 Missense Mutation LCTL chr15 66857037 66857037 A G g.66857037A>G ENST00000341509.5 c.259T>C p.Cys87Arg missense_variant probably damaging Huh6 Missense Mutation ADAMTS7 chr15 79090394 79090394 G C g.79090394G>C ENST00000388820.4 c.518C>G p.Ala173Gly missense_variant probably damaging Huh6 Missense Mutation ZNF592 chr15 85343204 85343204 C T g.85343204C>T ENST00000299927.3 c.3269C>T p.Pro1090Leu missense_variant possibly damaging Huh6 Missense Mutation ALPK3 chr15 85401652 85401652 G A g.85401652G>A ENST00000258888.5 c.4289G>A p.Arg1430Gln missense_variant benign Huh6 Missense Mutation ST8SIA2 chr15 92988059 92988059 G A g.92988059G>A ENST00000268164.3 c.742G>A p.Gly248Ser missense_variant probably damaging Huh6 Missense Mutation MCTP2 chr15 94841861 94841861 G A g.94841861G>A ENST00000357742.4 c.367G>A p.Ala123Thr missense_variant benign Huh6 Missense Mutation CACNA1H chr16 1260601 1260601 G A g.1260601G>A ENST00000348261.5 c.3988G>A p.Val1330Ile missense_variant benign Huh6 Missense Mutation PARN chr16 14693781 14693781 T A g.14693781T>A ENST00000437198.2 c.820A>T p.Ile274Phe missense_variant probably damaging Huh6 Missense Mutation IFT140 chr16 1576751 1576751 G A g.1576751G>A ENST00000426508.2 c.2446C>T p.Arg816Trp missense_variant probably damaging Huh6 Missense Mutation HS3ST6 chr16 1961922 1961922 T C g.1961922T>C ENST00000443547.1 c.605A>G p.Asp202Gly missense_variant benign Huh6 Missense Mutation ABCA3 chr16 2331461 2331461 G A g.2331461G>A ENST00000301732.5 c.4085C>T p.Ala1362Val missense_variant benign Huh6 Missense Mutation PLK1 chr16 23692328 23692328 G C g.23692328G>C ENST00000300093.4 c.671G>C p.Ser224Thr missense_variant benign Huh6 Missense Mutation MYLPF chr16 30387512 30387512 A G g.30387512A>G ENST00000322861.7 c.143A>G p.Glu48Gly missense_variant benign Huh6 Missense Mutation RNF40 chr16 30779622 30779622 C G g.30779622C>G ENST00000324685.6 c.1750C>G p.Pro584Ala missense_variant benign Huh6 Missense Mutation MMP25 chr16 3107168 3107168 C T g.3107168C>T ENST00000336577.4 c.796C>T p.Arg266Cys missense_variant benign Huh6 Missense Mutation ZNF423 chr16 49672185 49672185 G T g.49672185G>T ENST00000262383.2 c.878C>A p.Ala293Glu missense_variant probably damaging Huh6 Missense Mutation BRD7 chr16 50354299 50354299 G A g.50354299G>A ENST00000394688.3 c.1616C>T p.Ala539Val missense_variant probably damaging Huh6 Missense Mutation CDH8 chr16 61851530 61851530 G A g.61851530G>A ENST00000299345.6 c.1130C>T p.Thr377Ile missense_variant benign Huh6 Missense Mutation DYNC1LI2 chr16 66764061 66764061 G A g.66764061G>A ENST00000258198.2 c.995C>T p.Pro332Leu missense_variant benign Huh6 Missense Mutation TSNAXIP1 chr16 67860148 67860148 C T g.67860148C>T ENST00000388833.3 c.1076C>T p.Ser359Leu missense_variant benign Huh6 Missense Mutation DPEP2 chr16 68021438 68021438 T A g.68021438T>A ENST00000393847.1 c.1432A>T p.Thr478Ser missense_variant benign Huh6 Missense Mutation CALB2 chr16 71392773 71392773 G T g.71392773G>T ENST00000302628.4 c.78G>T p.Lys26Asn missense_variant benign Huh6 Missense Mutation ZFP1 chr16 75203988 75203988 G T g.75203988G>T ENST00000393430.2 c.980G>T p.Ser327Ile missense_variant probably damaging Huh6 Missense Mutation TMEM231 chr16 75576528 75576528 A C g.75576528A>C ENST00000258173.6 c.636T>G p.His212Gln missense_variant benign Huh6 Missense Mutation GAN chr16 81396155 81396155 G A g.81396155G>A ENST00000568107.2 c.1025G>A p.Ser342Asn missense_variant benign Huh6 Missense Mutation GRIN2A chr16 9892238 9892238 C G g.9892238C>G ENST00000330684.3 c.2252G>C p.Gly751Ala missense_variant probably damaging Huh6 Missense Mutation DNAH9 chr17 11865197 11865197 T A g.11865197T>A ENST00000262442.4 c.12857T>A p.Met4286Lys missense_variant possibly damaging Huh6 Missense Mutation TNFRSF13B chr17 16843003 16843003 G A g.16843003G>A ENST00000261652.2 c.740C>T p.Thr247Met missense_variant benign Huh6 Missense Mutation SMG6 chr17 2186015 2186015 G A g.2186015G>A ENST00000263073.6 c.2587C>T p.Arg863Trp missense_variant probably damaging Huh6 Missense Mutation SGSM2 chr17 2270655 2270655 C T g.2270655C>T ENST00000268989.3 c.1379C>T p.Ser460Leu missense_variant possibly damaging Huh6 Missense Mutation GPR179 chr17 36483547 36483547 C T g.36483547C>T ENST00000342292.4 c.5905G>A p.Val1969Ile missense_variant benign Huh6 Missense Mutation KRT13 chr17 39658737 39658737 C T g.39658737C>T ENST00000246635.3 c.1133G>A p.Arg378His missense_variant probably damaging Huh6 Missense Mutation FMNL1 chr17 43323312 43323312 C T g.43323312C>T ENST00000328118.3 c.3062C>T p.Pro1021Leu missense_variant benign Huh6 Missense Mutation GGT6 chr17 4462016 4462016 C T g.4462016C>T ENST00000574154.1 c.776G>A p.Arg259His missense_variant benign Huh6 Missense Mutation HOXB5 chr17 46669757 46669757 C A g.46669757C>A ENST00000239151.5 c.624G>T p.Glu208Asp missense_variant probably damaging Huh6 Missense Mutation ZNF652 chr17 47376050 47376050 C A g.47376050C>A ENST00000362063.2 c.1546G>T p.Val516Phe missense_variant benign Huh6 Missense Mutation CHAD chr17 48545926 48545926 C A g.48545926C>A ENST00000258969.4 c.249G>T p.Gln83His missense_variant probably damaging Huh6 Missense Mutation CDC42EP4 chr17 71282243 71282243 T C g.71282243T>C ENST00000335793.3 c.397A>G p.Ser133Gly missense_variant benign Huh6 Missense Mutation YBX2 chr17 7192953 7192953 G A g.7192953G>A ENST00000007699.5 c.940C>T p.Pro314Ser missense_variant probably damaging Huh6 Missense Mutation TRIM47 chr17 73872566 73872566 G A g.73872566G>A ENST00000254816.2 c.779C>T p.Ala260Val missense_variant possibly damaging Huh6 Missense Mutation TNRC6C chr17 76075507 76075507 A G g.76075507A>G ENST00000301624.4 c.3242A>G p.Asn1081Ser missense_variant benign Huh6 Missense Mutation GAA chr17 78081415 78081415 C T g.78081415C>T ENST00000302262.3 c.752C>T p.Ser251Leu missense_variant benign Huh6 Missense Mutation GAA chr17 78081424 78081424 C T g.78081424C>T ENST00000302262.3 c.761C>T p.Ser254Leu missense_variant probably damaging Huh6 Missense Mutation SUPT20HL1 chrX 24382492 24382492 G C g.24382492G>C NM_001136234.1 c.1615G>C p.Ala539Pro missense_variant NA Huh6 Missense Mutation NARF chr17 80436762 80436762 T A g.80436762T>A ENST00000309794.11 c.607T>A p.Ser203Thr missense_variant possibly damaging Huh6 Missense Mutation FN3KRP chr17 80678186 80678186 A C g.80678186A>C ENST00000269373.6 c.332A>C p.His111Pro missense_variant probably damaging Huh6 Missense Mutation NXN chr17 882726 882726 C T g.882726C>T ENST00000336868.3 c.193G>A p.Ala65Thr missense_variant probably damaging Huh6 Missense Mutation RNMT chr18 13731661 13731661 G A g.13731661G>A ENST00000262173.3 c.145G>A p.Val49Ile missense_variant benign Huh6 Missense Mutation ZNF519 chr18 14106219 14106219 G T g.14106219G>T ENST00000590202.1 c.320C>A p.Thr107Asn missense_variant benign Huh6 Missense Mutation CTAGE1 chr18 19995661 19995661 G A g.19995661G>A ENST00000391403.2 c.2114C>T p.Ser705Phe missense_variant benign Huh6 Missense Mutation SLC14A2 chr18 43204726 43204726 A T g.43204726A>T ENST00000255226.6 c.97A>T p.Thr33Ser missense_variant benign Huh6 Missense Mutation EPG5 chr18 43447704 43447704 C T g.43447704C>T ENST00000282041.5 c.6235G>A p.Gly2079Arg missense_variant probably damaging Huh6 Missense Mutation VPS4B chr18 61060766 61060766 C T g.61060766C>T ENST00000238497.5 c.1109G>A p.Arg370Gln missense_variant possibly damaging Huh6 Missense Mutation HOOK2 chr19 12881855 12881855 G A g.12881855G>A ENST00000264827.5 c.793C>T p.Arg265Cys missense_variant probably damaging Huh6 Missense Mutation PODNL1 chr19 14044796 14044796 A C g.14044796A>C ENST00000339560.5 c.683T>G p.Ile228Ser missense_variant probably damaging Huh6 Missense Mutation ZNF333 chr19 14829621 14829621 G C g.14829621G>C ENST00000292530.6 c.1482G>C p.Lys494Asn missense_variant probably damaging Huh6 Missense Mutation JAK3 chr19 17945988 17945988 G C g.17945988G>C ENST00000458235.1 c.1951C>G p.Arg651Gly missense_variant benign Huh6 Missense Mutation LPAR2 chr19 19737402 19737402 C T g.19737402C>T ENST00000407877.3 c.692G>A p.Arg231His missense_variant possibly damaging Huh6 Missense Mutation PLEKHF1 chr19 30165063 30165063 A G g.30165063A>G ENST00000436066.3 c.317A>G p.Lys106Arg missense_variant benign Huh6 Missense Mutation MFSD12 chr19 3548225 3548225 C T g.3548225C>T ENST00000355415.2 c.550G>A p.Ala184Thr missense_variant benign Huh6 Missense Mutation ZNF420 chr19 37581977 37581977 G T g.37581977G>T ENST00000304239.7 c.90G>T p.Leu30Phe missense_variant probably damaging Huh6 Missense Mutation MRPL54 chr19 3767330 3767330 G A g.3767330G>A ENST00000330133.4 c.356G>A p.Arg119Gln missense_variant probably damaging Huh6 Missense Mutation SARS2 chr19 39410406 39410406 C T g.39410406C>T ENST00000221431.6 c.755G>A p.Arg252His missense_variant benign Huh6 Missense Mutation PRX chr19 40902721 40902721 G A g.40902721G>A ENST00000324001.7 c.1538C>T p.Pro513Leu missense_variant probably damaging Huh6 Missense Mutation BCAM chr19 45323987 45323987 C T g.45323987C>T ENST00000270233.6 c.1789C>T p.His597Tyr missense_variant possibly damaging Huh6 Missense Mutation PVRL2 chr19 45381836 45381836 C A g.45381836C>A ENST00000252485.4 c.1399C>A p.Leu467Met missense_variant benign Huh6 Missense Mutation NKPD1 chr19 45656018 45656018 C A g.45656018C>A ENST00000317951.4 c.1677G>T p.Lys559Asn missense_variant benign Huh6 Missense Mutation MARK4 chr19 45781801 45781801 A G g.45781801A>G ENST00000262891.4 c.934A>G p.Ile312Val missense_variant benign Huh6 Missense Mutation CCDC114 chr19 48807021 48807021 C T g.48807021C>T ENST00000315396.7 c.763G>A p.Val255Ile missense_variant benign Huh6 Missense Mutation FUT2 chr19 49206911 49206911 G A g.49206911G>A ENST00000391876.4 c.698G>A p.R233H missense_variant benign Huh6 Missense Mutation IL4I1 chr19 50404916 50404916 G A g.50404916G>A ENST00000341114.3 c.59C>T p.Ala20Val missense_variant benign Huh6 Missense Mutation SIGLEC5 chr19 52115578 52115578 G C g.52115578G>C ENST00000222107.4 c.1562C>G p.Ala521Gly missense_variant possibly damaging Huh6 Missense Mutation ZNF816 chr19 53459336 53459336 G A g.53459336G>A ENST00000270457.4 c.7C>T p.Arg3Cys missense_variant possibly damaging Huh6 Missense Mutation TMEM190 chr19 55889197 55889197 C T g.55889197C>T ENST00000291934.3 c.248C>T p.Ala83Val missense_variant benign Huh6 Missense Mutation IGLV9-49 chr19 56720447 56720447 G A g.56720447G>A ENST00000376267.1 c.1369G>A p.E457K missense_variant NA Huh6 Missense Mutation ZIM3 chr19 57647211 57647211 T C g.57647211T>C ENST00000269834.1 c.494A>G p.Gln165Arg missense_variant benign Huh6 Missense Mutation ACER1 chr19 6312289 6312289 A T g.6312289A>T ENST00000301452.4 c.221T>A p.Met74Lys missense_variant possibly damaging Huh6 Missense Mutation CD70 chr19 6586075 6586075 T C g.6586075T>C ENST00000245903.3 c.538A>G p.Asn180Asp missense_variant probably damaging Huh6 Missense Mutation PEX11G chr19 7542312 7542312 G A g.7542312G>A ENST00000221480.1 c.502C>T p.Arg168Trp missense_variant probably damaging Huh6 Missense Mutation PRTN3 chr19 847929 847929 G A g.847929G>A ENST00000234347.5 c.731G>A p.Arg244His missense_variant benign Huh6 Missense Mutation OR1M1 chr19 9204318 9204318 C A g.9204318C>A ENST00000429566.3 c.398C>A p.Ala133Asp missense_variant benign Huh6 Missense Mutation NCK2 chr2 106498333 106498333 C T g.106498333C>T ENST00000233154.4 c.776C>T p.Pro259Leu missense_variant possibly damaging Huh6 Missense Mutation SULT1C2 chr2 108910715 108910715 T C g.108910715T>C ENST00000251481.6 c.182T>C p.Met61Thr missense_variant probably damaging Huh6 Missense Mutation IL37 chr2 113676192 113676192 A G g.113676192A>G ENST00000263326.3 c.463A>G p.Ile155Val missense_variant benign Huh6 Missense Mutation INSIG2 chr2 118865875 118865875 G A g.118865875G>A ENST00000245787.4 c.655G>A p.Ala219Thr missense_variant benign Huh6 Missense Mutation PCDP1 chr2 120395874 120395874 A T g.120395874A>T ENST00000413369.3 c.2014A>T p.T672S missense_variant benign Huh6 Missense Mutation CNTNAP5 chr2 125530544 125530544 C T g.125530544C>T ENST00000431078.1 c.2699C>T p.Thr900Met missense_variant possibly damaging Huh6 Missense Mutation SFT2D3 chr2 128459329 128459329 G T g.128459329G>T ENST00000310981.4 c.227G>T p.Arg76Leu missense_variant possibly damaging Huh6 Missense Mutation UGGT1 chr2 128947300 128947300 A G g.128947300A>G ENST00000259253.6 c.4652A>G p.Lys1551Arg missense_variant benign Huh6 Missense Mutation NEB chr2 152347020 152347020 C T g.152347020C>T ENST00000172853.10 c.19595G>A p.Arg6532His missense_variant probably damaging Huh6 Missense Mutation SLC38A11 chr2 165755156 165755156 C T g.165755156C>T ENST00000303735.4 c.946G>A p.Asp338Asn missense_variant possibly damaging Huh6 Missense Mutation SCN2A chr2 166179964 166179964 T A g.166179964T>A ENST00000283256.6 c.1970T>A p.Val657Asp missense_variant benign Huh6 Missense Mutation SCN9A chr2 167143004 167143004 T G g.167143004T>G ENST00000409435.1 c.1444A>C p.Lys482Gln missense_variant possibly damaging Huh6 Missense Mutation TTN chr2 179438056 179438056 C T g.179438056C>T ENST00000591111.1 c.67880G>A p.Arg22627His missense_variant probably damaging Huh6 Missense Mutation TTN chr2 179457564 179457564 T C g.179457564T>C ENST00000591111.1 c.54359A>G p.Asn18120Ser missense_variant probably damaging Huh6 Missense Mutation TTN chr2 179546396 179546396 G T g.179546396G>T ENST00000591111.1 c.32213C>A p.Pro10738Gln missense_variant possibly damaging Huh6 Missense Mutation ITGA4 chr2 182339742 182339742 G C g.182339742G>C ENST00000233573.6 c.375G>C p.Gln125His missense_variant probably damaging Huh6 Missense Mutation TMEM194B chr2 191383806 191383806 T G g.191383806T>G ENST00000409150.3 c.317A>C p.His106Pro missense_variant probably damaging Huh6 Missense Mutation SATB2 chr2 200213696 200213696 G T g.200213696G>T ENST00000260926.5 c.901C>A p.Gln301Lys missense_variant possibly damaging Huh6 Missense Mutation DYTN chr2 207516589 207516589 C T g.207516589C>T ENST00000452335.2 c.1690G>A p.Ala564Thr missense_variant probably damaging Huh6 Missense Mutation APOB chr2 21233486 21233486 C T g.21233486C>T ENST00000233242.1 c.6254G>A p.Arg2085Gln missense_variant benign Huh6 Missense Mutation TRAF3IP1 chr2 239306116 239306116 A G g.239306116A>G ENST00000373327.4 c.1706A>G p.Glu569Gly missense_variant probably damaging Huh6 Missense Mutation OR6B2 chr2 240969167 240969167 C T g.240969167C>T ENST00000402971.2 c.680G>A p.Arg227His missense_variant benign Huh6 Missense Mutation CAPN10 chr2 241530242 241530242 C T g.241530242C>T ENST00000270361.11 c.284C>T p.Pro95Leu missense_variant,NMD_transcript_variant probably damaging Huh6 Missense Mutation TCF23 chr2 27372994 27372994 G A g.27372994G>A ENST00000296096.5 c.226G>A p.Glu76Lys missense_variant possibly damaging Huh6 Missense Mutation USP34 chr2 61622134 61622134 C T g.61622134C>T ENST00000398571.2 c.607G>A p.Val203Ile missense_variant benign Huh6 Missense Mutation AFTPH chr2 64779521 64779521 G A g.64779521G>A ENST00000238855.7 c.913G>A p.Val305Met missense_variant benign Huh6 Missense Mutation SPRED2 chr2 65541005 65541005 T A g.65541005T>A ENST00000356388.4 c.887A>T p.Lys296Met missense_variant probably damaging Huh6 Missense Mutation PCBP1 chr2 70315473 70315473 C G g.70315473C>G ENST00000303577.5 c.598C>G p.Arg200Gly missense_variant benign Huh6 Missense Mutation C2orf42 chr2 70387882 70387882 C T g.70387882C>T ENST00000264434.2 c.1391G>A p.Arg464Gln missense_variant benign Huh6 Missense Mutation FAM136A chr2 70524600 70524600 C A g.70524600C>A ENST00000037869.3 c.238G>T p.Ala80Ser missense_variant benign Huh6 Missense Mutation TRABD2A chr2 85066404 85066404 A G g.85066404A>G ENST00000409133.1 c.860T>C p.Ile287Thr missense_variant benign Huh6 Missense Mutation C20orf96 chr20 270257 270257 G C g.270257G>C ENST00000360321.2 c.130C>G p.Gln44Glu missense_variant benign Huh6 Missense Mutation BPIFA2 chr20 31763265 31763265 G A g.31763265G>A ENST00000253362.2 c.463G>A p.Ala155Thr missense_variant benign Huh6 Missense Mutation PIGT chr20 44052943 44052943 A G g.44052943A>G ENST00000279036.6 c.1322A>G p.Lys441Arg missense_variant benign Huh6 Missense Mutation CDH22 chr20 44856181 44856181 G T g.44856181G>T ENST00000372262.3 c.636C>A p.Asp212Glu missense_variant possibly damaging Huh6 Missense Mutation LAMA5 chr20 60900433 60900433 G A g.60900433G>A ENST00000252999.3 c.5468C>T p.Ala1823Val missense_variant benign Huh6 Missense Mutation HELZ2 chr20 62194245 62194245 C T g.62194245C>T ENST00000467148.1 c.5930G>A p.Arg1977Gln missense_variant benign Huh6 Missense Mutation CYYR1 chr21 27852647 27852647 G A g.27852647G>A ENST00000299340.4 c.278C>T p.Ala93Val missense_variant possibly damaging Huh6 Missense Mutation IFNGR2 chr21 34805168 34805168 A C g.34805168A>C ENST00000290219.6 c.869A>C p.Gln290Pro missense_variant probably damaging Huh6 Missense Mutation KRTAP10-1 chr21 45959199 45959199 G A g.45959199G>A ENST00000400375.1 c.835C>T p.Arg279Cys missense_variant possibly damaging Huh6 Missense Mutation COL6A1 chr21 47406892 47406892 C T g.47406892C>T ENST00000361866.3 c.623C>T p.Thr208Met missense_variant probably damaging Huh6 Missense Mutation PCNT chr21 47831328 47831328 G A g.47831328G>A ENST00000359568.5 c.5341G>A p.Gly1781Arg missense_variant benign Huh6 Missense Mutation ZNF74 chr22 20761028 20761028 T C g.20761028T>C ENST00000356671.5 c.1705T>C p.Ser569Pro missense_variant possibly damaging Huh6 Missense Mutation CCDC116 chr22 21989155 21989155 G A g.21989155G>A ENST00000292779.3 c.803G>A p.Arg268His missense_variant benign Huh6 Missense Mutation NLRC3 chr16 3613395 3613395 G A g.3613395G>A ENST00000301749.7 c.1543C>T p.Arg515Cys missense_variant probably damaging Huh6 Missense Mutation ENTHD1 chr22 40140181 40140181 C T g.40140181C>T ENST00000325157.6 c.1327G>A p.Gly443Arg missense_variant benign Huh6 Missense Mutation RANGAP1 chr22 41670725 41670725 T G g.41670725T>G ENST00000356244.3 c.119A>C p.Asp40Ala missense_variant benign Huh6 Missense Mutation MEI1 chr22 42110050 42110050 C G g.42110050C>G ENST00000401548.3 c.394C>G p.Arg132Gly missense_variant benign Huh6 Missense Mutation GRAMD4 chr22 47058942 47058942 C T g.47058942C>T ENST00000361034.3 c.472C>T p.Arg158Trp missense_variant probably damaging Huh6 Missense Mutation KIAA2018 chr3 113379771 113379771 C G g.113379771C>G ENST00000316407.4 c.758G>C p.Ser253Thr missense_variant benign Huh6 Missense Mutation ZBTB20 chr3 114069474 114069474 G T g.114069474G>T ENST00000474710.1 c.1451C>A p.Thr484Asn missense_variant possibly damaging Huh6 Missense Mutation ARHGAP31 chr3 119133135 119133135 C T g.119133135C>T ENST00000264245.4 c.2359C>T p.Pro787Ser missense_variant probably damaging Huh6 Missense Mutation SEMA5B chr3 122631762 122631762 G A g.122631762G>A ENST00000357599.3 c.2653C>T p.Pro885Ser missense_variant probably damaging Huh6 Missense Mutation PPP2R3A chr3 135721655 135721655 C T g.135721655C>T ENST00000264977.3 c.1315C>T p.His439Tyr missense_variant benign Huh6 Missense Mutation FBLN2 chr3 13612600 13612600 G T g.13612600G>T ENST00000295760.7 c.745G>T p.Ala249Ser missense_variant possibly damaging Huh6 Missense Mutation ESYT3 chr3 138192417 138192417 G T g.138192417G>T ENST00000389567.4 c.2277G>T p.Gln759His missense_variant benign Huh6 Missense Mutation FOXL2 chr3 138665155 138665155 A T g.138665155A>T ENST00000330315.3 c.410T>A p.Met137Lys missense_variant probably damaging Huh6 Missense Mutation TRIM42 chr3 140407017 140407017 G A g.140407017G>A ENST00000286349.3 c.1493G>A p.Arg498His missense_variant benign Huh6 Missense Mutation HPS3 chr3 148858250 148858250 A G g.148858250A>G ENST00000296051.2 c.677A>G p.His226Arg missense_variant benign Huh6 Missense Mutation BCHE chr3 165547657 165547657 C T g.165547657C>T ENST00000264381.3 c.1165G>A p.Val389Met missense_variant benign Huh6 Missense Mutation GOLIM4 chr3 167750553 167750553 C T g.167750553C>T ENST00000470487.1 c.931G>A p.Glu311Lys missense_variant possibly damaging Huh6 Missense Mutation GPR160 chr3 169802578 169802578 T C g.169802578T>C ENST00000355897.5 c.818T>C p.Ile273Thr missense_variant possibly damaging Huh6 Missense Mutation DGKG chr3 186006576 186006576 G A g.186006576G>A ENST00000265022.3 c.467C>T p.Ser156Phe missense_variant benign Huh6 Missense Mutation MUC4 chr3 195512083 195512083 G A g.195512083G>A ENST00000462323.1 c.6368C>T p.Thr2123Ile missense_variant,NMD_transcript_variant benign Huh6 Missense Mutation TFRC chr3 195778910 195778910 G A g.195778910G>A ENST00000360110.4 c.2186C>T p.Thr729Met missense_variant probably damaging Huh6 Missense Mutation NEK10 chr3 27353664 27353664 A G g.27353664A>G ENST00000341435.5 c.494T>C p.Met165Thr missense_variant possibly damaging Huh6 Missense Mutation UBP1 chr3 33453094 33453094 T A g.33453094T>A ENST00000283628.5 c.534A>T p.Lys178Asn missense_variant probably damaging Huh6 Missense Mutation CTNNB1 chr3 41266104 41266104 G T g.41266104G>T ENST00000349496.5 c.101G>T p.Gly34Val missense_variant probably damaging Huh6 Missense Mutation ANO10 chr3 43602855 43602855 G C g.43602855G>C ENST00000292246.3 c.1333C>G p.Gln445Glu missense_variant probably damaging Huh6 Missense Mutation PRSS50 chr3 46753816 46753816 G T g.46753816G>T ENST00000315170.7 c.1078C>A p.Gln360Lys missense_variant benign Huh6 Missense Mutation SETD2 chr3 47164981 47164981 T G g.47164981T>G ENST00000409792.3 c.1145A>C p.Lys382Thr missense_variant probably damaging Huh6 Missense Mutation PLXNB1 chr3 48456396 48456396 C A g.48456396C>A ENST00000296440.6 c.4021G>T p.Ala1341Ser missense_variant possibly damaging Huh6 Missense Mutation CCDC36 chr3 49294383 49294383 C A g.49294383C>A ENST00000296449.5 c.1453C>A p.Pro485Thr missense_variant benign Huh6 Missense Mutation USP4 chr3 49377441 49377441 C T g.49377441C>T ENST00000265560.4 c.17G>A p.Gly6Asp missense_variant possibly damaging Huh6 Missense Mutation MST1R chr3 49934990 49934990 A C g.49934990A>C ENST00000296474.3 c.2009T>G p.Val670Gly missense_variant probably damaging Huh6 Missense Mutation VPRBP chr3 51475748 51475748 C A g.51475748C>A ENST00000504652.1 c.679G>T p.Asp227Tyr missense_variant possibly damaging Huh6 Missense Mutation DNAH1 chr3 52427015 52427015 C T g.52427015C>T ENST00000420323.2 c.10448C>T p.Ser3483Leu missense_variant benign Huh6 Missense Mutation ADAMTS9 chr3 64607927 64607927 T G g.64607927T>G ENST00000498707.1 c.2633A>C p.Gln878Pro missense_variant benign Huh6 Missense Mutation CNTN3 chr3 74350684 74350684 C T g.74350684C>T ENST00000263665.6 c.1960G>A p.Asp654Asn missense_variant benign Huh6 Missense Mutation HTR1F chr3 88039942 88039942 G C g.88039942G>C ENST00000319595.4 c.43G>C p.Glu15Gln missense_variant benign Huh6 Missense Mutation TADA3 chr3 9828725 9828725 C G g.9828725C>G ENST00000301964.2 c.775G>C p.Ala259Pro missense_variant benign Huh6 Missense Mutation PRRT3 chr3 9989323 9989323 C T g.9989323C>T ENST00000295984.3 c.1534G>A p.Val512Met missense_variant,NMD_transcript_variant probably damaging Huh6 Missense Mutation SPON2 chr4 1164833 1164833 A G g.1164833A>G ENST00000290902.5 c.590T>C p.Phe197Ser missense_variant probably damaging Huh6 Missense Mutation PRSS12 chr4 119239559 119239559 G T g.119239559G>T ENST00000296498.3 c.1124C>A p.Ala375Asp missense_variant probably damaging Huh6 Missense Mutation FAM184B chr4 17710894 17710894 G A g.17710894G>A ENST00000265018.3 c.515C>T p.Pro172Leu missense_variant benign Huh6 Missense Mutation SLIT2 chr4 20552491 20552491 C T g.20552491C>T ENST00000504154.1 c.2531C>T p.Ala844Val missense_variant benign Huh6 Missense Mutation ZCCHC4 chr4 25335046 25335046 G A g.25335046G>A ENST00000302874.4 c.571G>A p.Gly191Arg missense_variant probably damaging Huh6 Missense Mutation FAM193A chr4 2648548 2648548 G A g.2648548G>A ENST00000324666.5 c.427G>A p.Val143Ile missense_variant probably damaging Huh6 Missense Mutation SH3BP2 chr4 2835499 2835499 G A g.2835499G>A ENST00000356331.5 c.1624G>A p.Val542Met missense_variant probably damaging Huh6 Missense Mutation HTT chr4 3117820 3117820 G A g.3117820G>A ENST00000355072.5 c.898G>A p.V300I missense_variant benign Huh6 Missense Mutation N4BP2 chr4 40127852 40127852 A G g.40127852A>G ENST00000261435.6 c.4429A>G p.Met1477Val missense_variant benign Huh6 Missense Mutation STX18 chr4 4543598 4543598 C T g.4543598C>T ENST00000306200.2 c.94G>A p.Asp32Asn missense_variant probably damaging Huh6 Missense Mutation GABRG1 chr4 46099328 46099328 G A g.46099328G>A ENST00000295452.4 c.143C>T p.Thr48Met missense_variant probably damaging Huh6 Missense Mutation TMPRSS11B chr4 69107485 69107485 T C g.69107485T>C ENST00000332644.5 c.46A>G p.Thr16Ala missense_variant benign Huh6 Missense Mutation PKD2 chr4 88996109 88996109 G A g.88996109G>A ENST00000237596.2 c.2668G>A p.Glu890Lys (Splice) missense_variant,splice_region_variant probably damaging Huh6 Missense Mutation TRIM36 chr5 114469604 114469604 C T g.114469604C>T ENST00000282369.3 c.1487G>A p.Cys496Tyr missense_variant benign Huh6 Missense Mutation FER1L5 chr2 97357049 97357049 G A g.97357049G>A NM_001113382.1 c.2845G>A p.Glu949Lys missense_variant benign Huh6 Missense Mutation ZNF608 chr5 123979287 123979287 C T g.123979287C>T ENST00000306315.5 c.4213G>A p.Val1405Ile missense_variant benign Huh6 Missense Mutation PCDHA3 chr5 140182299 140182299 G T g.140182299G>T ENST00000522353.2 c.1517G>T p.Ser506Ile missense_variant damaging Huh6 Missense Mutation PCDHB11 chr5 140580098 140580098 A G g.140580098A>G ENST00000354757.3 c.751A>G p.Ile251Val missense_variant benign Huh6 Missense Mutation PCDHGA9 chr5 140784066 140784066 C T g.140784066C>T ENST00000573521.1 c.1547C>T p.Ala516Val missense_variant damaging Huh6 Missense Mutation ARAP3 chr5 141036196 141036196 G A g.141036196G>A ENST00000239440.4 c.3664C>T p.Arg1222Cys missense_variant probably damaging Huh6 Missense Mutation RNF145 chr5 158630657 158630657 G A g.158630657G>A ENST00000274542.2 c.53C>T p.Ser18Phe missense_variant benign Huh6 Missense Mutation MYO10 chr5 16681451 16681451 C T g.16681451C>T ENST00000513610.1 c.4351G>A p.Val1451Ile missense_variant possibly damaging Huh6 Missense Mutation PDZD2 chr5 32089169 32089169 T A g.32089169T>A ENST00000282493.3 c.5615T>A p.Leu1872His missense_variant probably damaging Huh6 Missense Mutation C5orf42 chr5 37121749 37121749 G C g.37121749G>C ENST00000425232.2 c.8993C>G p.Ser2998Cys missense_variant benign Huh6 Missense Mutation PARP8 chr5 50137802 50137802 A T g.50137802A>T ENST00000281631.5 c.2465A>T p.Tyr822Phe (Splice) missense_variant,splice_region_variant possibly damaging Huh6 Missense Mutation DHX29 chr5 54569156 54569156 C T g.54569156C>T ENST00000251636.5 c.2740G>A p.Ala914Thr missense_variant benign Huh6 Missense Mutation NAIP chr5 70308271 70308271 C G g.70308271C>G ENST00000194097.4 c.472G>C p.Glu158Gln missense_variant possibly damaging Huh6 Missense Mutation GPR98 chr5 90085621 90085621 A G g.90085621A>G ENST00000405460.2 c.13996A>G p.Ile4666Val missense_variant possibly damaging Huh6 Missense Mutation PRDM13 chr6 100061821 100061821 C T g.100061821C>T ENST00000369215.4 c.1310C>T p.Pro437Leu missense_variant possibly damaging Huh6 Missense Mutation PTPRK chr6 128841446 128841446 G A g.128841446G>A ENST00000368207.3 c.58C>T p.Pro20Ser missense_variant benign Huh6 Missense Mutation TULP4 chr6 158924536 158924536 C A g.158924536C>A ENST00000367097.3 c.3841C>A p.Pro1281Thr missense_variant benign Huh6 Missense Mutation LRRC16A chr6 25619729 25619729 G C g.25619729G>C ENST00000329474.6 c.4034G>C p.Arg1345Pro missense_variant benign Huh6 Missense Mutation ZSCAN31 chr6 28297360 28297360 C G g.28297360C>G ENST00000344279.6 c.101G>C p.Gly34Ala missense_variant possibly damaging Huh6 Missense Mutation ZSCAN12 chr6 28358680 28358680 G A g.28358680G>A ENST00000361028.1 c.1387C>T p.His463Tyr missense_variant probably damaging Huh6 Missense Mutation OR2H2 chr6 29556167 29556167 T C g.29556167T>C ENST00000383640.2 c.446T>C p.Ile149Thr missense_variant benign Huh6 Missense Mutation PPP1R10 chr6 30569902 30569902 T A g.30569902T>A ENST00000376511.2 c.2524A>T p.Ser842Cys missense_variant possibly damaging Huh6 Missense Mutation MUC22 chr6 30993449 30993449 A G g.30993449A>G ENST00000561890.1 c.241A>G p.Met81Val missense_variant benign Huh6 Missense Mutation SLC44A4 chr6 31839148 31839148 C T g.31839148C>T ENST00000229729.6 c.644G>A p.Arg215Gln missense_variant possibly damaging Huh6 Missense Mutation TNXB chr6 32056709 32056709 C T g.32056709C>T ENST00000375244.3 c.2632G>A p.Gly878Ser missense_variant probably damaging Huh6 Missense Mutation BRD2 chr6 32944480 32944480 C T g.32944480C>T ENST00000374825.4 c.967C>T p.Pro323Ser missense_variant possibly damaging Huh6 Missense Mutation CPNE5 chr6 36712048 36712048 C T g.36712048C>T ENST00000244751.2 c.1486G>A p.Asp496Asn missense_variant benign Huh6 Missense Mutation C6orf132 chr6 42072378 42072378 C A g.42072378C>A ENST00000341865.4 c.3272G>T p.Cys1091Phe missense_variant damaging Huh6 Missense Mutation CDC5L chr6 44397598 44397598 A G g.44397598A>G ENST00000371477.3 c.2042A>G p.Asn681Ser missense_variant benign Huh6 Missense Mutation CD109 chr6 74493515 74493515 C A g.74493515C>A ENST00000287097.5 c.2191C>A p.Leu731Met missense_variant probably damaging Huh6 Missense Mutation PPP1R3A chr7 113519666 113519666 G A g.113519666G>A ENST00000284601.3 c.1481C>T p.Ser494Leu missense_variant possibly damaging Huh6 Missense Mutation NRF1 chr7 129350347 129350347 T G g.129350347T>G ENST00000223190.4 c.899T>G p.Leu300Arg missense_variant probably damaging Huh6 Missense Mutation COPG2 chr7 130298462 130298462 C T g.130298462C>T ENST00000330992.7 c.445G>A p.V149M missense_variant probably damaging Huh6 Missense Mutation GSTK1 chr7 142962101 142962101 G T g.142962101G>T ENST00000358406.5 c.300G>T p.Met100Ile missense_variant probably damaging Huh6 Missense Mutation FAM131B chr7 143054020 143054020 C T g.143054020C>T ENST00000409222.3 c.622G>A p.Asp208Asn missense_variant probably damaging Huh6 Missense Mutation ITGB8 chr7 20418712 20418712 A G g.20418712A>G ENST00000222573.4 c.427A>G p.Lys143Glu missense_variant benign Huh6 Missense Mutation NFE2L3 chr7 26224640 26224640 T A g.26224640T>A ENST00000056233.3 c.1322T>A p.Val441Glu missense_variant possibly damaging Huh6 Missense Mutation ABCA13 chr7 48315769 48315769 G T g.48315769G>T ENST00000435803.1 c.6506G>T p.Trp2169Leu missense_variant benign Huh6 Missense Mutation USP42 chr7 6189749 6189749 C G g.6189749C>G ENST00000306177.5 c.1922C>G p.Ala641Gly missense_variant possibly damaging Huh6 Missense Mutation ERV3-1 chr7 64452480 64452480 T C g.64452480T>C ENST00000394323.2 c.925A>G p.Arg309Gly missense_variant possibly damaging Huh6 Missense Mutation ASL chr7 65546866 65546866 A G g.65546866A>G ENST00000304874.9 c.89A>G p.Tyr30Cys missense_variant benign Huh6 Missense Mutation C7orf26 chr7 6631323 6631323 A G g.6631323A>G ENST00000344417.5 c.239A>G p.Asn80Ser missense_variant benign Huh6 Missense Mutation AUTS2 chr7 70255170 70255170 C G g.70255170C>G ENST00000406775.2 c.2896C>G p.His990Asp missense_variant possibly damaging Huh6 Missense Mutation SEMA3D chr7 84751169 84751169 G T g.84751169G>T ENST00000284136.6 c.39C>A p.Ser13Arg missense_variant benign Huh6 Missense Mutation CYP51A1 chr7 91753085 91753085 C A g.91753085C>A ENST00000003100.8 c.853G>T p.Asp285Tyr missense_variant probably damaging Huh6 Missense Mutation SAMD9L chr7 92764241 92764241 G C g.92764241G>C ENST00000318238.4 c.1044C>G p.Ser348Arg missense_variant probably damaging Huh6 Missense Mutation SLC35G5 chr8 11188965 11188965 G A g.11188965G>A ENST00000382435.4 c.350G>A p.Cys117Tyr missense_variant probably damaging Huh6 Missense Mutation XPO7 chr8 21827696 21827696 G C g.21827696G>C ENST00000252512.9 c.301G>C p.Ala101Pro missense_variant benign Huh6 Missense Mutation POLR3D chr8 22105772 22105772 G A g.22105772G>A ENST00000306433.4 c.467G>A p.Arg156His missense_variant probably damaging Huh6 Missense Mutation PPP2CB chr8 30657228 30657228 C T g.30657228C>T ENST00000221138.4 c.146G>A p.Arg49His missense_variant benign Huh6 Missense Mutation RAB11FIP1 chr8 37730222 37730222 C G g.37730222C>G ENST00000330843.4 c.2098G>C p.Gly700Arg missense_variant benign Huh6 Missense Mutation PRKDC chr8 48695113 48695113 C T g.48695113C>T ENST00000314191.2 c.11219G>A p.R3740H missense_variant benign Huh6 Missense Mutation PRDM14 chr8 70981783 70981783 G T g.70981783G>T ENST00000276594.2 c.313C>A p.Pro105Thr missense_variant benign Huh6 Missense Mutation DPY19L4 chr8 95732231 95732231 C T g.95732231C>T ENST00000414645.2 c.5C>T p.Ala2Val missense_variant probably damaging Huh6 Missense Mutation CCNE2 chr8 95894385 95894385 G A g.95894385G>A ENST00000308108.4 c.1076C>T p.Thr359Ile missense_variant probably damaging Huh6 Missense Mutation OR13C8 chr9 107331618 107331618 C A g.107331618C>A ENST00000335040.1 c.170C>A p.Thr57Asn missense_variant benign Huh6 Missense Mutation AKAP2 chr9 112899105 112899105 T G g.112899105T>G ENST00000259318.7 c.588T>G p.Asp196Glu missense_variant benign Huh6 Missense Mutation FAM129B chr9 130289567 130289567 T C g.130289567T>C ENST00000373312.3 c.221A>G p.Asn74Ser missense_variant benign Huh6 Missense Mutation PRRC2B chr9 134351321 134351321 C T g.134351321C>T ENST00000357304.4 c.3805C>T p.Arg1269Trp missense_variant probably damaging Huh6 Missense Mutation ADAMTSL2 chr9 136439089 136439089 C T g.136439089C>T ENST00000354484.4 c.2717C>T p.Pro906Leu missense_variant benign Huh6 Missense Mutation C9orf69 chr9 139008659 139008659 C T g.139008659C>T ENST00000418388.1 c.88G>A p.A30T missense_variant NA Huh6 Missense Mutation PIGO chr9 35091414 35091414 C T g.35091414C>T ENST00000341666.3 c.2470G>A p.Ala824Thr missense_variant probably damaging Huh6 Missense Mutation TRPM3 chr9 73151092 73151092 C T g.73151092C>T ENST00000377110.3 c.4901G>A p.Arg1634His missense_variant probably damaging Huh6 Missense Mutation ANXA1 chr9 75773707 75773707 A T g.75773707A>T ENST00000257497.6 c.163A>T p.Ile55Leu missense_variant benign Huh6 Missense Mutation ZCCHC6 chr9 88938158 88938158 C A g.88938158C>A ENST00000375961.2 c.2507G>T p.Gly836Val missense_variant benign Huh6 Missense Mutation SHC3 chr9 91653197 91653197 A C g.91653197A>C ENST00000375835.4 c.1367T>G p.Phe456Cys missense_variant probably damaging Huh6 Missense Mutation PIH1D3 chrX 106462153 106462153 G A g.106462153G>A ENST00000336387.4 c.286G>A p.Glu96Lys missense_variant possibly damaging Huh6 Missense Mutation SEPT6 chrX 118786854 118786854 G A g.118786854G>A ENST00000343984.5 c.491C>T p.Ser164Phe missense_variant probably damaging Huh6 Missense Mutation TMEM120A chr7 75623876 75623876 G A g.75623876G>A ENST00000493111.2 c.13C>T p.Pro5Ser missense_variant benign Huh6 Missense Mutation ARHGAP4 chrX 153175726 153175726 C G g.153175726C>G ENST00000350060.5 c.2055G>C p.Gln685His missense_variant benign Huh6 Missense Mutation CCDC22 chrX 49105985 49105985 G A g.49105985G>A ENST00000376227.3 c.1651G>A p.Asp551Asn missense_variant probably damaging Huh6 Missense Mutation NLGN4X chrX 5811228 5811228 G C g.5811228G>C ENST00000275857.6 c.2081C>G p.Ala694Gly missense_variant probably damaging Huh6 Missense Mutation PCDH11Y chrY 5605862 5605862 C A g.5605862C>A ENST00000215473.6 c.3902C>A p.Ser1301Tyr missense_variant possibly damaging Li7 Missense Mutation SIKE1 chr1 115316919 115316919 C A g.115316919C>A ENST00000060969.5 c.597G>T p.Met199Ile missense_variant benign Li7 Missense Mutation TRIM45 chr1 117658296 117658296 C G g.117658296C>G ENST00000256649.4 c.1368G>C p.Met456Ile missense_variant benign Li7 Missense Mutation ADAM30 chr1 120437395 120437395 C T g.120437395C>T ENST00000369400.1 c.1565G>A p.Cys522Tyr missense_variant probably damaging Li7 Missense Mutation TCHH chr1 152084726 152084726 C G g.152084726C>G ENST00000368804.1 c.967G>C p.Glu323Gln missense_variant benign Li7 Missense Mutation IVL chr1 152883061 152883061 T C g.152883061T>C ENST00000368764.3 c.788T>C p.Leu263Pro missense_variant probably damaging Li7 Missense Mutation KCNN3 chr1 154842202 154842202 T G g.154842202T>G ENST00000271915.4 c.239A>C p.Gln80Pro missense_variant benign Li7 Missense Mutation GON4L chr1 155735240 155735240 G A g.155735240G>A ENST00000271883.5 c.4024C>T p.Arg1342Cys missense_variant benign Li7 Missense Mutation TMEM79 chr1 156255135 156255135 G A g.156255135G>A ENST00000295694.5 c.118G>A p.Glu40Lys missense_variant possibly damaging Li7 Missense Mutation BCAN chr1 156626789 156626789 T C g.156626789T>C ENST00000329117.5 c.2110T>C p.Ser704Pro missense_variant benign Li7 Missense Mutation FHAD1 chr1 15675578 15675578 A G g.15675578A>G ENST00000358897.4 c.2321A>G p.Lys774Arg missense_variant benign Li7 Missense Mutation OR6K2 chr1 158670216 158670216 G T g.158670216G>T ENST00000359610.2 c.227C>A p.Ala76Asp missense_variant possibly damaging Li7 Missense Mutation LAMC2 chr1 183204775 183204775 C G g.183204775C>G ENST00000264144.4 c.2366C>G p.Ala789Gly missense_variant possibly damaging Li7 Missense Mutation SMG7 chr1 183498585 183498585 A G g.183498585A>G ENST00000347615.2 c.760A>G p.Ile254Val missense_variant benign Li7 Missense Mutation RGS18 chr1 192128438 192128438 G A g.192128438G>A ENST00000367460.3 c.208G>A p.Ala70Thr missense_variant benign Li7 Missense Mutation LGR6 chr1 202266680 202266680 G A g.202266680G>A ENST00000367278.3 c.761G>A p.Arg254Gln missense_variant possibly damaging Li7 Missense Mutation KIF17 chr1 21030995 21030995 C G g.21030995C>G ENST00000247986.2 c.1068G>C p.Glu356Asp missense_variant probably damaging Li7 Missense Mutation WNT4 chr1 22456307 22456307 C T g.22456307C>T ENST00000290167.6 c.115G>A p.Glu39Lys missense_variant benign Li7 Missense Mutation DNAH14 chr1 225534194 225534194 T C g.225534194T>C ENST00000430092.1 c.10855T>C p.Cys3619Arg missense_variant probably damaging Li7 Missense Mutation TMEM63A chr1 226044654 226044654 A G g.226044654A>G ENST00000366835.3 c.1441T>C p.Ser481Pro missense_variant benign Li7 Missense Mutation TRIM17 chr1 228598783 228598783 A G g.228598783A>G ENST00000295033.3 c.620T>C p.Leu207Pro missense_variant probably damaging Li7 Missense Mutation RYR2 chr1 237604737 237604737 A C g.237604737A>C ENST00000366574.2 c.1124A>C p.Gln375Pro missense_variant probably damaging Li7 Missense Mutation MAP1LC3C chr1 242162283 242162283 C A g.242162283C>A ENST00000357246.3 c.28G>T p.Val10Phe missense_variant benign Li7 Missense Mutation KIF26B chr1 245849089 245849089 G T g.245849089G>T ENST00000407071.2 c.2804G>T p.Cys935Phe missense_variant probably damaging Li7 Missense Mutation OR13G1 chr1 247835749 247835749 C T g.247835749C>T ENST00000359688.2 c.595G>A p.Ala199Thr missense_variant probably damaging Li7 Missense Mutation SH3BP5L chr1 249106158 249106158 G A g.249106158G>A ENST00000366472.5 c.1123C>T p.Arg375Cys missense_variant possibly damaging Li7 Missense Mutation TRIM63 chr1 26392906 26392906 C T g.26392906C>T ENST00000374272.3 c.185G>A p.Arg62Gln missense_variant possibly damaging Li7 Missense Mutation ZMYM6 chr1 35457895 35457895 C T g.35457895C>T ENST00000357182.4 c.2086G>A p.Val696Ile missense_variant benign Li7 Missense Mutation MACF1 chr1 39816512 39816512 A T g.39816512A>T ENST00000317713.7 c.4835A>T p.Asp1612Val missense_variant possibly damaging Li7 Missense Mutation EFCAB7 chr1 64021064 64021064 T G g.64021064T>G ENST00000371088.4 c.1092T>G p.Ile364Met missense_variant benign Li7 Missense Mutation WDR78 chr1 67340485 67340485 G T g.67340485G>T ENST00000371022.3 c.779C>A p.Ser260Tyr missense_variant probably damaging Li7 Missense Mutation DPYD chr1 98058899 98058899 C T g.98058899C>T ENST00000370192.3 c.1003G>A p.Val335Met missense_variant probably damaging Li7 Missense Mutation RASSF10 chr11 13031655 13031655 C G g.13031655C>G NM_001080521.2 c.532C>G p.Arg178Gly missense_variant probably damaging Li7 Missense Mutation COL17A1 chr10 105796270 105796270 C T g.105796270C>T ENST00000353479.5 c.3398G>A p.Arg1133His missense_variant benign Li7 Missense Mutation COL17A1 chr10 105836074 105836074 G A g.105836074G>A ENST00000353479.5 c.316C>T p.Arg106Cys missense_variant probably damaging Li7 Missense Mutation INPP5F chr10 121586517 121586517 T A g.121586517T>A ENST00000361976.2 c.2624T>A p.Leu875Gln missense_variant benign Li7 Missense Mutation WDR11 chr10 122664863 122664863 G A g.122664863G>A ENST00000263461.6 c.3226G>A p.A1076T missense_variant probably damaging Li7 Missense Mutation JAKMIP3 chr10 133958654 133958654 G A g.133958654G>A ENST00000298622.4 c.1646G>A p.Arg549Gln missense_variant benign Li7 Missense Mutation TTC40 chr10 134732016 134732016 T G g.134732016T>G ENST00000368582.2 c.1867A>C p.Lys623Gln missense_variant possibly damaging Li7 Missense Mutation KNDC1 chr10 135038303 135038303 A G g.135038303A>G ENST00000304613.3 c.5159A>G p.Asp1720Gly missense_variant probably damaging Li7 Missense Mutation ARHGAP21 chr10 24959317 24959317 T C g.24959317T>C ENST00000376410.2 c.73A>G p.Asn25Asp missense_variant benign Li7 Missense Mutation PDSS1 chr10 27035316 27035316 A G g.27035316A>G ENST00000376215.5 c.1162A>G p.Ile388Val missense_variant benign Li7 Missense Mutation MAP3K8 chr10 30736811 30736811 G A g.30736811G>A ENST00000263056.1 c.437G>A p.Arg146Gln missense_variant probably damaging Li7 Missense Mutation PCDH15 chr10 55755509 55755509 G A g.55755509G>A ENST00000320301.6 c.2768C>T p.Pro923Leu missense_variant possibly damaging Li7 Missense Mutation LRIT2 chr10 85984094 85984094 A T g.85984094A>T ENST00000372113.4 c.887T>A p.Phe296Tyr missense_variant probably damaging Li7 Missense Mutation CCSER2 chr10 86131377 86131377 C T g.86131377C>T ENST00000224756.8 c.569C>T p.Ala190Val missense_variant benign Li7 Missense Mutation CNTN5 chr11 100095437 100095437 C A g.100095437C>A ENST00000279463.3 c.1898C>A p.Ala633Glu missense_variant probably damaging Li7 Missense Mutation ATM chr11 108114764 108114764 T C g.108114764T>C ENST00000278616.4 c.581T>C p.Val194Ala missense_variant possibly damaging Li7 Missense Mutation C11orf65 chr11 108277618 108277618 G T g.108277618G>T ENST00000393084.1 c.301C>A p.Pro101Thr missense_variant probably damaging Li7 Missense Mutation BCL9L chr11 118773058 118773058 T A g.118773058T>A ENST00000334801.3 c.1394A>T p.Tyr465Phe missense_variant possibly damaging Li7 Missense Mutation NLRX1 chr11 119044743 119044743 C A g.119044743C>A ENST00000292199.2 c.785C>A p.Pro262Gln missense_variant probably damaging Li7 Missense Mutation USP47 chr11 11957979 11957979 G C g.11957979G>C ENST00000339865.5 c.1795G>C p.Val599Leu missense_variant benign Li7 Missense Mutation C11orf63 chr11 122827236 122827236 C A g.122827236C>A ENST00000227349.2 c.1962C>A p.Asp654Glu missense_variant benign Li7 Missense Mutation OTOG chr11 17656693 17656693 C T g.17656693C>T ENST00000399397.1 c.7469C>T p.Thr2563Met missense_variant NA Li7 Missense Mutation E2F8 chr11 19259598 19259598 C T g.19259598C>T ENST00000250024.4 c.97G>A p.Ala33Thr missense_variant benign Li7 Missense Mutation MUC15 chr11 26584693 26584693 G A g.26584693G>A ENST00000455601.2 c.814C>T p.Arg272Trp missense_variant probably damaging Li7 Missense Mutation MUC15 chr11 26587189 26587189 G T g.26587189G>T ENST00000455601.2 c.217C>A p.Pro73Thr missense_variant benign Li7 Missense Mutation OR4C6 chr11 55432976 55432976 C T g.55432976C>T ENST00000314259.3 c.334C>T p.Leu112Phe missense_variant probably damaging Li7 Missense Mutation CTTN chr11 70267594 70267594 G A g.70267594G>A ENST00000301843.8 c.809G>A p.Gly270Glu missense_variant probably damaging Li7 Missense Mutation ACACB chr12 109644596 109644596 G A g.109644596G>A ENST00000338432.7 c.2995G>A p.Val999Ile missense_variant probably damaging Li7 Missense Mutation GIT2 chr12 110427502 110427502 T C g.110427502T>C ENST00000320063.9 c.292A>G p.Lys98Glu missense_variant benign Li7 Missense Mutation TAS2R31 chr12 11183196 11183196 T A g.11183196T>A ENST00000390675.2 c.739A>T p.Ile247Leu missense_variant benign Li7 Missense Mutation SH2B3 chr12 111885526 111885526 G A g.111885526G>A ENST00000341259.2 c.1303G>A p.Val435Met missense_variant benign Li7 Missense Mutation EP400 chr12 132514298 132514298 C T g.132514298C>T ENST00000389562.2 c.5431C>T p.Pro1848Ser missense_variant benign Li7 Missense Mutation C2CD5 chr12 22602776 22602776 T G g.22602776T>G ENST00000333957.4 c.2921A>C p.Glu974Ala missense_variant benign Li7 Missense Mutation GXYLT1 chr12 42503456 42503456 G A g.42503456G>A ENST00000398675.3 c.524C>T p.Thr175Met missense_variant possibly damaging Li7 Missense Mutation FGF6 chr12 4543479 4543479 G T g.4543479G>T ENST00000228837.2 c.529C>A p.Gln177Lys missense_variant benign Li7 Missense Mutation SLC38A1 chr12 46589974 46589974 A G g.46589974A>G ENST00000552197.1 c.1448T>C p.Met483Thr missense_variant benign Li7 Missense Mutation LARP4 chr12 50855021 50855021 C G g.50855021C>G ENST00000398473.2 c.1225C>G p.Pro409Ala missense_variant benign Li7 Missense Mutation SPSB2 chr12 6981828 6981828 C T g.6981828C>T ENST00000432205.1 c.238G>A p.Gly80Ser missense_variant probably damaging Li7 Missense Mutation ATN1 chr12 7046016 7046016 C T g.7046016C>T ENST00000356654.4 c.1586C>T p.Pro529Leu missense_variant possibly damaging Li7 Missense Mutation THAP2 chr12 72070664 72070664 T G g.72070664T>G ENST00000308086.2 c.463T>G p.Cys155Gly missense_variant probably damaging Li7 Missense Mutation ANKS1B chr12 99640375 99640375 T C g.99640375T>C ENST00000329257.7 c.2024A>G p.His675Arg missense_variant possibly damaging Li7 Missense Mutation TUBGCP3 chr13 113181316 113181316 C A g.113181316C>A ENST00000261965.3 c.1495G>T p.Asp499Tyr missense_variant probably damaging Li7 Missense Mutation SACS chr13 23909025 23909025 C T g.23909025C>T ENST00000382292.3 c.8990G>A p.Arg2997Gln missense_variant probably damaging Li7 Missense Mutation POSTN chr13 38160993 38160993 C A g.38160993C>A ENST00000379742.4 c.679G>T p.Asp227Tyr missense_variant probably damaging Li7 Missense Mutation METTL3 chr14 21971569 21971569 A G g.21971569A>G ENST00000298717.4 c.470T>C p.Met157Thr missense_variant benign Li7 Missense Mutation ADCY4 chr14 24800500 24800500 C T g.24800500C>T ENST00000310677.4 c.732G>A p.Met244Ile missense_variant benign Li7 Missense Mutation DNAAF2 chr14 50100181 50100181 C A g.50100181C>A ENST00000298292.8 c.1687G>T p.Ala563Ser missense_variant benign Li7 Missense Mutation WDR89 chr14 64065610 64065610 C T g.64065610C>T ENST00000267522.3 c.1051G>A p.Gly351Arg missense_variant probably damaging Li7 Missense Mutation MPP5 chr14 67768822 67768822 G A g.67768822G>A ENST00000261681.4 c.788G>A p.Arg263His missense_variant possibly damaging Li7 Missense Mutation PSEN1 chr14 73640302 73640302 G A g.73640302G>A ENST00000261970.3 c.367G>A p.Glu123Lys missense_variant possibly damaging Li7 Missense Mutation WI2-2373I1.2 chr7 330660 330660 C G g.330660C>G NM_001195127.1 c.149C>G p.Ala50Gly missense_variant NA Li7 Missense Mutation ATP10A chr15 25953420 25953420 T C g.25953420T>C ENST00000356865.6 c.2372A>G p.Lys791Arg missense_variant benign Li7 Missense Mutation IVD chr15 40707099 40707099 C G g.40707099C>G ENST00000249760.2 c.796C>G p.Leu266Val missense_variant benign Li7 Missense Mutation LACTB chr15 63419618 63419618 A G g.63419618A>G ENST00000261893.4 c.682A>G p.Lys228Glu missense_variant benign Li7 Missense Mutation CA12 chr15 63637678 63637678 C T g.63637678C>T ENST00000178638.3 c.427G>A p.Glu143Lys (Splice) missense_variant,splice_region_variant probably damaging Li7 Missense Mutation ANP32A chr15 69080238 69080238 G C g.69080238G>C ENST00000409628.2 c.75C>G p.Asp25Glu missense_variant,NMD_transcript_variant probably damaging Li7 Missense Mutation UACA chr15 70960058 70960058 C T g.70960058C>T ENST00000322954.6 c.2965G>A p.Val989Ile missense_variant benign Li7 Missense Mutation CSPG4 chr15 75982847 75982847 C T g.75982847C>T ENST00000308508.5 c.559G>A p.Asp187Asn missense_variant probably damaging Li7 Missense Mutation ARNT2 chr15 80855542 80855542 T A g.80855542T>A ENST00000303329.4 c.1278T>A p.Asp426Glu missense_variant benign Li7 Missense Mutation ANPEP chr15 90349232 90349232 G A g.90349232G>A ENST00000300060.6 c.583C>T p.Arg195Cys missense_variant probably damaging Li7 Missense Mutation GDPGP1 chr15 90784745 90784745 G A g.90784745G>A ENST00000329600.6 c.605G>A p.Arg202His missense_variant probably damaging Li7 Missense Mutation MAN2A2 chr15 91461497 91461497 C T g.91461497C>T ENST00000360468.3 c.3068C>T p.Ala1023Val missense_variant benign Li7 Missense Mutation TSC2 chr16 2106225 2106225 G A g.2106225G>A ENST00000219476.3 c.628G>A p.Ala210Thr missense_variant benign Li7 Missense Mutation PKD1 chr16 2139885 2139885 C T g.2139885C>T ENST00000262304.4 c.12755G>A p.Ser4252Asn missense_variant benign Li7 Missense Mutation CASKIN1 chr16 2235346 2235346 G A g.2235346G>A ENST00000343516.6 c.1112C>T p.Pro371Leu missense_variant probably damaging Li7 Missense Mutation GTF3C1 chr16 27483208 27483208 C T g.27483208C>T ENST00000356183.4 c.4387G>A p.Val1463Ile missense_variant benign Li7 Missense Mutation SRRM2 chr16 2817604 2817604 G A g.2817604G>A ENST00000301740.8 c.7075G>A p.Ala2359Thr missense_variant benign Li7 Missense Mutation SLX4 chr16 3647953 3647953 T A g.3647953T>A ENST00000294008.3 c.1211A>T p.Lys404Met missense_variant probably damaging Li7 Missense Mutation C16orf96 chr16 4606707 4606707 C A g.4606707C>A ENST00000444310.4 c.217C>A p.Pro73Thr missense_variant possibly damaging Li7 Missense Mutation CIAPIN1 chr16 57470631 57470631 T G g.57470631T>G ENST00000394391.4 c.324A>C p.Lys108Asn missense_variant benign Li7 Missense Mutation CNGB1 chr16 57945673 57945673 C T g.57945673C>T ENST00000251102.8 c.2476G>A p.Asp826Asn missense_variant benign Li7 Missense Mutation HYDIN chr16 70954721 70954721 G A g.70954721G>A ENST00000393567.2 c.7558C>T p.Arg2520Cys missense_variant probably damaging Li7 Missense Mutation PABPN1L chr16 88932996 88932996 G A g.88932996G>A ENST00000378358.4 c.19C>T p.Arg7Cys missense_variant benign Li7 Missense Mutation ANKRD11 chr16 89348543 89348543 C G g.89348543C>G ENST00000301030.4 c.4407G>C p.Trp1469Cys missense_variant probably damaging Li7 Missense Mutation EPN2 chr17 19216587 19216587 C T g.19216587C>T ENST00000314728.5 c.1142C>T p.Ser381Leu missense_variant benign Li7 Missense Mutation SLC35G3 chr17 33521059 33521059 G C g.33521059G>C ENST00000297307.5 c.268C>G p.Arg90Gly missense_variant benign Li7 Missense Mutation SOCS7 chr17 36508614 36508614 C G g.36508614C>G ENST00000331159.5 c.487C>G p.Pro163Ala missense_variant benign Li7 Missense Mutation ZZEF1 chr17 3936253 3936253 G A g.3936253G>A ENST00000381638.2 c.6628C>T p.Arg2210Trp missense_variant probably damaging Li7 Missense Mutation KRTAP9-7 chr17 39432184 39432184 C A g.39432184C>A ENST00000391354.1 c.235C>A p.Pro79Thr missense_variant damaging Li7 Missense Mutation KRT34 chr17 39535853 39535853 C T g.39535853C>T ENST00000394001.1 c.845G>A p.Arg282His missense_variant possibly damaging Li7 Missense Mutation PLCD3 chr17 43191632 43191632 G A g.43191632G>A ENST00000322765.5 c.1811C>T p.S604L missense_variant benign Li7 Missense Mutation FMNL1 chr17 43323629 43323629 G A g.43323629G>A ENST00000328118.3 c.3143G>A p.Arg1048Gln missense_variant possibly damaging Li7 Missense Mutation MYBBP1A chr17 4446270 4446270 G A g.4446270G>A ENST00000254718.4 c.2830C>T p.His944Tyr missense_variant benign Li7 Missense Mutation PSMB6 chr17 4701596 4701596 G A g.4701596G>A ENST00000270586.3 c.599G>A p.Arg200Gln missense_variant probably damaging Li7 Missense Mutation ABCC3 chr17 48750485 48750485 G A g.48750485G>A ENST00000285238.8 c.2395G>A p.Val799Met missense_variant possibly damaging Li7 Missense Mutation MTMR4 chr17 56585615 56585615 T C g.56585615T>C ENST00000323456.5 c.572A>G p.Gln191Arg missense_variant possibly damaging Li7 Missense Mutation WSCD1 chr17 5991313 5991313 C T g.5991313C>T ENST00000317744.5 c.431C>T p.Thr144Ile missense_variant benign Li7 Missense Mutation APOH chr17 64222212 64222212 T C g.64222212T>C ENST00000205948.6 c.272A>G p.Glu91Gly missense_variant probably damaging Li7 Missense Mutation ABCA5 chr17 67303010 67303010 G T g.67303010G>T ENST00000392676.3 c.644C>A p.Thr215Asn missense_variant benign Li7 Missense Mutation UNC13D chr17 73824952 73824952 G A g.73824952G>A ENST00000207549.4 c.3067C>T p.Arg1023Cys missense_variant benign Li7 Missense Mutation TP53 chr17 7576542 7576542 A G g.7576542A>G ENST00000455263.2 c.1036T>C p.Ser346Pro missense_variant benign Li7 Missense Mutation TP53 chr17 7576572 7576572 A C g.7576572A>C ENST00000455263.2 c.1006T>G p.Leu336Val missense_variant damaging Li7 Missense Mutation TK1 chr17 76170856 76170856 C T g.76170856C>T ENST00000301634.7 c.689G>A p.Cys230Tyr missense_variant benign Li7 Missense Mutation CARD14 chr17 78171934 78171934 C T g.78171934C>T ENST00000344227.2 c.1631C>T p.Ser544Phe missense_variant benign Li7 Missense Mutation AATK chr17 79096198 79096198 G A g.79096198G>A ENST00000326724.4 c.1538C>T p.Pro513Leu missense_variant benign Li7 Missense Mutation KCTD1 chr18 24127946 24127946 C G g.24127946C>G ENST00000417602.1 c.555G>C p.Glu185Asp missense_variant unknown Li7 Missense Mutation DCC chr18 50976903 50976903 G A g.50976903G>A ENST00000442544.2 c.3263G>A p.Gly1088Asp missense_variant probably damaging Li7 Missense Mutation TCF4 chr18 52921862 52921862 C T g.52921862C>T ENST00000354452.3 c.1216G>A p.Gly406Ser missense_variant probably damaging Li7 Missense Mutation ALPK2 chr18 56191239 56191239 G C g.56191239G>C ENST00000361673.3 c.5557C>G p.Gln1853Glu missense_variant probably damaging Li7 Missense Mutation CDH7 chr18 63547669 63547669 C T g.63547669C>T ENST00000323011.3 c.1897C>T p.Arg633Trp missense_variant probably damaging Li7 Missense Mutation LAMA1 chr18 6961715 6961715 A G g.6961715A>G ENST00000389658.3 c.7496T>C p.Leu2499Ser missense_variant probably damaging Li7 Missense Mutation ATG4D chr19 10654969 10654969 A C g.10654969A>C ENST00000309469.4 c.203A>C p.Lys68Thr missense_variant possibly damaging Li7 Missense Mutation PKN1 chr19 14580776 14580776 G A g.14580776G>A ENST00000242783.6 c.2269G>A p.Ala757Thr missense_variant benign Li7 Missense Mutation ZNF430 chr19 21239822 21239822 A T g.21239822A>T ENST00000261560.5 c.708A>T p.Glu236Asp missense_variant benign Li7 Missense Mutation ZNF254 chr19 24288781 24288781 C G g.24288781C>G ENST00000339642.6 c.70C>G p.Leu24Val missense_variant possibly damaging Li7 Missense Mutation RYR1 chr19 38939066 38939066 C T g.38939066C>T ENST00000355481.4 c.872C>T p.Ala291Val missense_variant probably damaging Li7 Missense Mutation FCGBP chr19 40364169 40364169 C T g.40364169C>T ENST00000221347.6 c.14473G>A p.Val4825Ile missense_variant probably damaging Li7 Missense Mutation MAP3K10 chr19 40711891 40711891 G A g.40711891G>A ENST00000253055.3 c.1262G>A p.Arg421Gln missense_variant benign Li7 Missense Mutation LTBP4 chr19 41103277 41103277 G T g.41103277G>T ENST00000308370.7 c.137G>T p.R46L missense_variant benign Li7 Missense Mutation FSD1 chr19 4311880 4311880 G T g.4311880G>T ENST00000221856.6 c.532G>T p.Ala178Ser missense_variant benign Li7 Missense Mutation PTGIR chr19 47124811 47124811 C T g.47124811C>T ENST00000291294.2 c.887G>A p.Arg296His missense_variant probably damaging Li7 Missense Mutation PRR24 chr19 47778394 47778394 C T g.47778394C>T ENST00000552360.2 c.218C>T p.Ser73Phe missense_variant benign Li7 Missense Mutation LIG1 chr19 48653093 48653093 G A g.48653093G>A ENST00000263274.7 c.703C>T p.Arg235Trp missense_variant benign Li7 Missense Mutation RASIP1 chr19 49238745 49238745 G A g.49238745G>A ENST00000222145.4 c.887C>T p.Ala296Val missense_variant probably damaging Li7 Missense Mutation TULP2 chr19 49398293 49398293 C A g.49398293C>A ENST00000221399.3 c.476G>T p.Arg159Ile missense_variant possibly damaging Li7 Missense Mutation SLC6A16 chr19 49813317 49813317 G A g.49813317G>A ENST00000335875.4 c.680C>T p.Thr227Met missense_variant possibly damaging Li7 Missense Mutation SIGLEC6 chr19 52031489 52031489 G A g.52031489G>A ENST00000425629.3 c.1031C>T p.Ala344Val missense_variant benign Li7 Missense Mutation CACNG7 chr19 54418636 54418636 A G g.54418636A>G ENST00000222212.2 c.301A>G p.Thr101Ala missense_variant benign Li7 Missense Mutation LILRB2 chr19 54782137 54782137 T A g.54782137T>A ENST00000314446.5 c.1235A>T p.Glu412Val missense_variant benign Li7 Missense Mutation ZNF749 chr19 57956565 57956565 C A g.57956565C>A ENST00000334181.4 c.2049C>A p.Phe683Leu missense_variant benign Li7 Missense Mutation ZIK1 chr19 58102582 58102582 G T g.58102582G>T ENST00000597850.1 c.1403G>T p.Cys468Phe missense_variant probably damaging Li7 Missense Mutation GPR108 chr19 6734296 6734296 C G g.6734296C>G ENST00000264080.7 c.397G>C p.Glu133Gln missense_variant benign Li7 Missense Mutation CERS4 chr19 8321909 8321909 G A g.8321909G>A ENST00000251363.5 c.689G>A p.Arg230His missense_variant possibly damaging Li7 Missense Mutation RANBP2 chr2 109399174 109399174 A T g.109399174A>T ENST00000283195.6 c.9225A>T p.Glu3075Asp missense_variant possibly damaging Li7 Missense Mutation ROCK2 chr2 11341093 11341093 G A g.11341093G>A ENST00000315872.6 c.2900C>T p.Thr967Ile missense_variant benign Li7 Missense Mutation CNTNAP5 chr2 125261957 125261957 C T g.125261957C>T ENST00000431078.1 c.1148C>T p.Thr383Ile missense_variant benign Li7 Missense Mutation MYO7B chr2 128384878 128384878 A G g.128384878A>G ENST00000389524.4 c.4375A>G p.Thr1459Ala missense_variant benign Li7 Missense Mutation UGGT1 chr2 128947300 128947300 A G g.128947300A>G ENST00000259253.6 c.4652A>G p.Lys1551Arg missense_variant benign Li7 Missense Mutation NEB chr2 152424596 152424596 C T g.152424596C>T ENST00000172853.10 c.12730G>A p.Val4244Ile missense_variant possibly damaging Li7 Missense Mutation FMNL2 chr2 153504339 153504339 G A g.153504339G>A ENST00000288670.9 c.3199G>A p.Asp1067Asn missense_variant probably damaging Li7 Missense Mutation CCDC148 chr2 159195260 159195260 G C g.159195260G>C ENST00000283233.5 c.742C>G p.Leu248Val missense_variant benign Li7 Missense Mutation PLA2R1 chr2 160862246 160862246 T C g.160862246T>C ENST00000283243.7 c.1751A>G p.Asn584Ser missense_variant probably damaging Li7 Missense Mutation GAD1 chr2 171686086 171686086 G A g.171686086G>A ENST00000344257.5 c.247G>A p.Asp83Asn missense_variant benign Li7 Missense Mutation OSBPL6 chr2 179248772 179248772 G A g.179248772G>A ENST00000190611.4 c.1882G>A p.Val628Ile missense_variant benign Li7 Missense Mutation TTN chr2 179440595 179440595 C G g.179440595C>G ENST00000591111.1 c.65341G>C p.Gly21781Arg missense_variant probably damaging Li7 Missense Mutation TTN chr2 179592543 179592543 C A g.179592543C>A ENST00000591111.1 c.18811G>T p.Asp6271Tyr missense_variant probably damaging Li7 Missense Mutation MYT1L chr2 1893225 1893225 T G g.1893225T>G ENST00000428368.2 c.2302A>C p.Asn768His missense_variant probably damaging Li7 Missense Mutation COL3A1 chr2 189864298 189864298 G A g.189864298G>A ENST00000304636.3 c.2224G>A p.Asp742Asn missense_variant possibly damaging Li7 Missense Mutation ANKAR chr2 190584511 190584511 G A g.190584511G>A ENST00000313581.4 c.2438G>A p.Cys813Tyr missense_variant benign Li7 Missense Mutation DNAH7 chr2 196825049 196825049 G T g.196825049G>T ENST00000312428.6 c.2826C>A p.Asp942Glu missense_variant probably damaging Li7 Missense Mutation TMEM237 chr2 202498134 202498134 G C g.202498134G>C ENST00000409883.2 c.295C>G p.Gln99Glu missense_variant benign Li7 Missense Mutation FZD7 chr2 202900299 202900299 A G g.202900299A>G ENST00000286201.1 c.929A>G p.Glu310Gly missense_variant benign Li7 Missense Mutation TDRD15 chr2 21365385 21365385 C A g.21365385C>A ENST00000405799.1 c.5046C>A p.D1682E missense_variant NA Li7 Missense Mutation ABCA12 chr2 215854157 215854157 G A g.215854157G>A ENST00000272895.7 c.3725C>T p.Pro1242Leu missense_variant probably damaging Li7 Missense Mutation FN1 chr2 216256394 216256394 A C g.216256394A>C ENST00000336916.4 c.3940T>G p.Leu1314Val missense_variant benign Li7 Missense Mutation PRSS56 chr2 233387890 233387890 C T g.233387890C>T ENST00000449534.2 c.827C>T p.Ala276Val missense_variant damaging Li7 Missense Mutation KLHL30 chr2 239049612 239049612 C T g.239049612C>T ENST00000409223.1 c.217C>T p.Arg73Cys missense_variant probably damaging Li7 Missense Mutation HDAC4 chr2 240016738 240016738 C T g.240016738C>T ENST00000345617.3 c.2233G>A p.Val745Met missense_variant benign Li7 Missense Mutation C2orf54 chr2 241827796 241827796 G C g.241827796G>C ENST00000388934.4 c.1164C>G p.Ile388Met missense_variant benign Li7 Missense Mutation GAL3ST2 chr2 242738500 242738500 T A g.242738500T>A ENST00000192314.6 c.50T>A p.Leu17His missense_variant probably damaging Li7 Missense Mutation GAREML chr2 26407721 26407721 C A g.26407721C>A ENST00000401533.2 c.1004C>A p.Pro335Gln missense_variant damaging Li7 Missense Mutation ATL2 chr2 38525591 38525591 G A g.38525591G>A ENST00000378954.4 c.1327C>T p.Arg443Cys missense_variant possibly damaging Li7 Missense Mutation RP11-474G23.1 chr2 68384678 68384678 T C g.68384678T>C ENST00000406334.3 c.911A>G p.Glu304Gly missense_variant,NMD_transcript_variant NA Li7 Missense Mutation ITGB1BP1 chr2 9552453 9552453 T G g.9552453T>G ENST00000238091.4 c.233A>C p.Glu78Ala missense_variant benign Li7 Missense Mutation RRBP1 chr20 17600325 17600325 C T g.17600325C>T ENST00000246043.4 c.3628G>A p.Ala1210Thr missense_variant possibly damaging Li7 Missense Mutation ACSS1 chr20 24995784 24995784 C A g.24995784C>A ENST00000323482.4 c.1329G>T p.Trp443Cys missense_variant probably damaging Li7 Missense Mutation ZHX3 chr20 39831230 39831230 C T g.39831230C>T ENST00000309060.3 c.2327G>A p.Arg776Gln missense_variant probably damaging Li7 Missense Mutation SERINC3 chr20 43142542 43142542 T A g.43142542T>A ENST00000255175.1 c.179A>T p.Glu60Val missense_variant benign Li7 Missense Mutation CSE1L chr20 47685270 47685270 A G g.47685270A>G ENST00000262982.2 c.586A>G p.Ser196Gly missense_variant benign Li7 Missense Mutation CASS4 chr20 55021022 55021022 G A g.55021022G>A ENST00000360314.3 c.526G>A p.Val176Met missense_variant probably damaging Li7 Missense Mutation LAMA5 chr20 60884421 60884421 C T g.60884421C>T ENST00000252999.3 c.11059G>A p.Val3687Met missense_variant probably damaging Li7 Missense Mutation DIDO1 chr20 61512660 61512660 G A g.61512660G>A ENST00000266070.4 c.4648C>T p.Pro1550Ser missense_variant benign Li7 Missense Mutation DIDO1 chr20 61541067 61541067 A C g.61541067A>C ENST00000266070.4 c.1145T>G p.Leu382Arg missense_variant probably damaging Li7 Missense Mutation TIAM1 chr21 32638636 32638636 G A g.32638636G>A ENST00000286827.3 c.653C>T p.Ala218Val missense_variant benign Li7 Missense Mutation DOPEY2 chr21 37620846 37620846 G A g.37620846G>A ENST00000399151.3 c.4978G>A p.Val1660Ile missense_variant probably damaging Li7 Missense Mutation SIM2 chr21 38117246 38117246 C T g.38117246C>T ENST00000290399.6 c.1385C>T p.Pro462Leu missense_variant possibly damaging Li7 Missense Mutation COL18A1 chr21 46897817 46897817 G A g.46897817G>A ENST00000359759.4 c.2404G>A p.G802R missense_variant possibly damaging Li7 Missense Mutation GAB4 chr22 17447181 17447181 G C g.17447181G>C ENST00000400588.1 c.1097C>G p.Ser366Cys missense_variant probably damaging Li7 Missense Mutation DGCR2 chr22 19036057 19036057 C G g.19036057C>G ENST00000263196.7 c.902G>C p.Gly301Ala missense_variant probably damaging Li7 Missense Mutation MED15 chr22 20937251 20937251 C T g.20937251C>T ENST00000263205.7 c.1534C>T p.Pro512Ser missense_variant probably damaging Li7 Missense Mutation MYO18B chr22 26286726 26286726 G A g.26286726G>A ENST00000335473.7 c.4318G>A p.Ala1440Thr missense_variant benign Li7 Missense Mutation ASPHD2 chr22 26829774 26829774 G A g.26829774G>A ENST00000215906.5 c.193G>A p.Ala65Thr missense_variant benign Li7 Missense Mutation MTMR3 chr22 30416467 30416467 A G g.30416467A>G ENST00000333027.3 c.2819A>G p.Glu940Gly missense_variant probably damaging Li7 Missense Mutation GATSL3 chr22 30685473 30685473 A C g.30685473A>C ENST00000404953.3 c.14T>G p.Ile5Ser missense_variant damaging Li7 Missense Mutation LARGE chr22 33712132 33712132 C T g.33712132C>T ENST00000354992.2 c.1390G>A p.Glu464Lys missense_variant benign Li7 Missense Mutation CACNA1I chr22 40045784 40045784 G C g.40045784G>C ENST00000401624.1 c.1846G>C p.Asp616His missense_variant possibly damaging Li7 Missense Mutation SLC25A17 chr22 41173052 41173052 T C g.41173052T>C ENST00000420970.1 c.685A>G p.Ile229Val missense_variant,NMD_transcript_variant benign Li7 Missense Mutation SREBF2 chr22 42274020 42274020 G A g.42274020G>A ENST00000361204.4 c.1654G>A p.Val552Ile missense_variant probably damaging Li7 Missense Mutation SAMM50 chr22 44369175 44369175 C T g.44369175C>T ENST00000350028.4 c.620C>T p.Thr207Met missense_variant possibly damaging Li7 Missense Mutation FBLN1 chr22 45996276 45996276 C T g.45996276C>T ENST00000327858.6 c.2062C>T p.His688Tyr missense_variant probably damaging Li7 Missense Mutation ODF3B chr22 50969431 50969431 A G g.50969431A>G ENST00000329363.4 c.475T>C p.Ser159Pro missense_variant probably damaging Li7 Missense Mutation GPR128 chr3 100362472 100362472 C T g.100362472C>T ENST00000273352.3 c.941C>T p.Thr314Met missense_variant possibly damaging Li7 Missense Mutation BOC chr3 112989785 112989785 G A g.112989785G>A ENST00000273395.4 c.661G>A p.Val221Met missense_variant probably damaging Li7 Missense Mutation KIAA2018 chr3 113376658 113376658 G C g.113376658G>C ENST00000316407.4 c.3871C>G p.Leu1291Val missense_variant possibly damaging Li7 Missense Mutation KIAA2018 chr3 113379603 113379603 G A g.113379603G>A ENST00000316407.4 c.926C>T p.Ala309Val missense_variant benign Li7 Missense Mutation HGD chr3 120389324 120389324 C G g.120389324C>G ENST00000283871.5 c.232G>C p.Glu78Gln missense_variant benign Li7 Missense Mutation BFSP2 chr3 133119027 133119027 T C g.133119027T>C ENST00000302334.2 c.100T>C p.Ser34Pro missense_variant probably damaging Li7 Missense Mutation SI chr3 164780258 164780258 C G g.164780258C>G ENST00000264382.3 c.921G>C p.Gln307His missense_variant probably damaging Li7 Missense Mutation SI chr3 164785131 164785131 G T g.164785131G>T ENST00000264382.3 c.632C>A p.Thr211Asn missense_variant benign Li7 Missense Mutation DGKG chr3 185986598 185986598 G A g.185986598G>A ENST00000265022.3 c.1108C>T p.Arg370Trp missense_variant probably damaging Li7 Missense Mutation TBCCD1 chr3 186272221 186272221 T C g.186272221T>C ENST00000338733.5 c.1366A>G p.Arg456Gly missense_variant benign Li7 Missense Mutation ATP13A5 chr3 193007809 193007809 C A g.193007809C>A ENST00000342358.4 c.2888G>T p.Arg963Ile missense_variant possibly damaging Li7 Missense Mutation ATP13A5 chr3 193039532 193039532 T G g.193039532T>G ENST00000342358.4 c.1853A>C p.His618Pro missense_variant benign Li7 Missense Mutation GOLGA4 chr3 37365569 37365569 A T g.37365569A>T ENST00000361924.2 c.2192A>T p.His731Leu missense_variant benign Li7 Missense Mutation MYRIP chr3 40231775 40231775 G C g.40231775G>C ENST00000302541.6 c.1486G>C p.Val496Leu missense_variant probably damaging Li7 Missense Mutation ANO10 chr3 43618547 43618547 T C g.43618547T>C ENST00000292246.3 c.799A>G p.Asn267Asp missense_variant benign Li7 Missense Mutation KIF15 chr3 44854605 44854605 G C g.44854605G>C ENST00000326047.4 c.2316G>C p.Gln772His missense_variant benign Li7 Missense Mutation KIF15 chr3 44854606 44854606 G A g.44854606G>A ENST00000326047.4 c.2317G>A p.Glu773Lys missense_variant benign Li7 Missense Mutation NCKIPSD chr3 48719807 48719807 G T g.48719807G>T ENST00000294129.2 c.460C>A p.Leu154Ile missense_variant benign Li7 Missense Mutation PTPRG chr3 61989071 61989071 C T g.61989071C>T ENST00000295874.10 c.419C>T p.Pro140Leu missense_variant probably damaging Li7 Missense Mutation LMCD1 chr3 8578876 8578876 T C g.8578876T>C ENST00000157600.3 c.137T>C p.Ile46Thr missense_variant possibly damaging Li7 Missense Mutation ADH4 chr4 100057804 100057804 T G g.100057804T>G ENST00000265512.7 c.395A>C p.Lys132Thr missense_variant benign Li7 Missense Mutation FAT4 chr4 126373318 126373318 G A g.126373318G>A ENST00000394329.3 c.11147G>A p.Arg3716His missense_variant probably damaging Li7 Missense Mutation SORBS2 chr4 186545106 186545106 G T g.186545106G>T ENST00000284776.7 c.1465C>A p.Leu489Met missense_variant benign Li7 Missense Mutation ZFYVE28 chr4 2306440 2306440 C T g.2306440C>T ENST00000290974.2 c.1627G>A p.Glu543Lys missense_variant possibly damaging Li7 Missense Mutation KIAA1239 chr4 37447097 37447097 G A g.37447097G>A ENST00000309447.5 c.3487G>A p.Glu1163Lys missense_variant probably damaging Li7 Missense Mutation GUF1 chr4 44700643 44700643 T C g.44700643T>C ENST00000281543.5 c.1955T>C p.Val652Ala missense_variant benign Li7 Missense Mutation CORIN chr4 47685768 47685768 A C g.47685768A>C ENST00000273857.4 c.1001T>G p.Leu334Trp missense_variant probably damaging Li7 Missense Mutation UGT2B4 chr4 70346575 70346575 T C g.70346575T>C ENST00000305107.6 c.1364A>G p.Lys455Arg missense_variant probably damaging Li7 Missense Mutation CXCL1 chr4 74735276 74735276 G C g.74735276G>C ENST00000395761.3 c.89G>C p.Arg30Pro missense_variant possibly damaging Li7 Missense Mutation CDS1 chr4 85540635 85540635 C G g.85540635C>G ENST00000295887.5 c.529C>G p.Gln177Glu missense_variant possibly damaging Li7 Missense Mutation ZNF608 chr5 123982515 123982515 T A g.123982515T>A ENST00000306315.5 c.3562A>T p.Asn1188Tyr missense_variant benign Li7 Missense Mutation ADAMTS19 chr5 129015550 129015550 T C g.129015550T>C ENST00000274487.4 c.2582T>C p.Val861Ala missense_variant possibly damaging Li7 Missense Mutation RAPGEF6 chr5 130828298 130828298 A C g.130828298A>C ENST00000296859.6 c.1708T>G p.Ser570Ala missense_variant benign Li7 Missense Mutation PCDHGB2 chr5 140741076 140741076 G T g.140741076G>T ENST00000522605.1 c.1374G>T p.Met458Ile missense_variant benign Li7 Missense Mutation MYOZ3 chr5 150052052 150052052 G A g.150052052G>A ENST00000297130.4 c.575G>A p.Arg192Gln missense_variant probably damaging Li7 Missense Mutation WWC1 chr5 167881032 167881032 A T g.167881032A>T ENST00000265293.4 c.2585A>T p.Glu862Val missense_variant benign Li7 Missense Mutation RANBP17 chr5 170343578 170343578 A C g.170343578A>C ENST00000389118.4 c.944A>C p.Glu315Ala missense_variant,NMD_transcript_variant benign Li7 Missense Mutation TRIM7 chr5 180622597 180622597 G A g.180622597G>A ENST00000274773.7 c.1105C>T p.Arg369Trp missense_variant probably damaging Li7 Missense Mutation MROH2B chr5 41010109 41010109 T C g.41010109T>C ENST00000399564.4 c.3208A>G p.Ile1070Val missense_variant benign Li7 Missense Mutation OXCT1 chr5 41807522 41807522 T A g.41807522T>A ENST00000196371.5 c.751A>T p.Ile251Phe missense_variant possibly damaging Li7 Missense Mutation FGF10 chr5 44388609 44388609 G A g.44388609G>A ENST00000264664.4 c.176C>T p.Ser59Phe missense_variant probably damaging Li7 Missense Mutation KIAA0947 chr5 5463307 5463307 T C g.5463307T>C ENST00000296564.7 c.3860T>C p.Leu1287Pro missense_variant benign Li7 Missense Mutation PPWD1 chr5 64883155 64883155 G T g.64883155G>T ENST00000261308.5 c.1873G>T p.Val625Phe missense_variant possibly damaging Li7 Missense Mutation NSUN2 chr5 6632055 6632055 T C g.6632055T>C ENST00000264670.6 c.290A>G p.Lys97Arg missense_variant benign Li7 Missense Mutation ELOVL2 chr6 10995294 10995294 C A g.10995294C>A ENST00000354666.3 c.451G>T p.Ala151Ser missense_variant possibly damaging Li7 Missense Mutation TBC1D32 chr6 121563480 121563480 G T g.121563480G>T ENST00000275159.6 c.2024C>A p.Ala675Asp missense_variant possibly damaging Li7 Missense Mutation RSPO3 chr6 127517142 127517142 C G g.127517142C>G ENST00000356698.4 c.809C>G p.Thr270Ser missense_variant benign Li7 Missense Mutation LOC100507462 chr6 139094663 139094663 G A g.139094663G>A NM_001242740.1 c.25C>T p.Leu9Phe missense_variant NA Li7 Missense Mutation HECA chr6 139495557 139495557 T C g.139495557T>C ENST00000367658.2 c.1348T>C p.Cys450Arg missense_variant probably damaging Li7 Missense Mutation MTHFD1L chr6 151265640 151265640 G A g.151265640G>A ENST00000367321.3 c.1459G>A p.Gly487Arg missense_variant probably damaging Li7 Missense Mutation SYNE1 chr6 152711512 152711512 T A g.152711512T>A ENST00000265368.4 c.8080A>T p.Ser2694Cys missense_variant probably damaging Li7 Missense Mutation SYTL3 chr6 159103997 159103997 C G g.159103997C>G ENST00000297239.9 c.370C>G p.Arg124Gly missense_variant probably damaging Li7 Missense Mutation BTN2A1 chr6 26459899 26459899 G C g.26459899G>C ENST00000312541.5 c.273G>C p.Glu91Asp missense_variant possibly damaging Li7 Missense Mutation HIST1H2BL chr6 27775339 27775339 T C g.27775339T>C ENST00000377401.2 c.346A>G p.Thr116Ala missense_variant possibly damaging Li7 Missense Mutation ZSCAN16 chr6 28097302 28097302 C A g.28097302C>A ENST00000340487.4 c.621C>A p.Asn207Lys missense_variant benign Li7 Missense Mutation HLA-A chr6 29910614 29910614 G C g.29910614G>C ENST00000376802.2 c.154G>C p.Val52Leu missense_variant probably damaging Li7 Missense Mutation C2 chr6 31905147 31905147 A G g.31905147A>G ENST00000299367.5 c.1040A>G p.Tyr347Cys missense_variant probably damaging Li7 Missense Mutation BTNL2 chr6 32362769 32362769 C G g.32362769C>G ENST00000374993.1 c.1112G>C p.Gly371Ala missense_variant benign Li7 Missense Mutation HLA-DMB chr6 32904957 32904957 C T g.32904957C>T ENST00000416244.2 c.614G>A p.Arg205Gln missense_variant benign Li7 Missense Mutation TAF8 chr6 42054465 42054465 C G g.42054465C>G ENST00000456846.2 c.929C>G p.T310R missense_variant possibly damaging Li7 Missense Mutation SLC22A7 chr6 43269385 43269385 G A g.43269385G>A ENST00000372585.5 c.1016G>A p.Arg339His missense_variant probably damaging Li7 Missense Mutation GSTA4 chr6 52849366 52849366 C T g.52849366C>T ENST00000370959.1 c.310G>A p.Glu104Lys missense_variant possibly damaging Li7 Missense Mutation TINAG chr6 54216175 54216175 T C g.54216175T>C ENST00000259782.4 c.1106T>C p.Met369Thr missense_variant benign Li7 Missense Mutation LCA5 chr6 80197046 80197046 T C g.80197046T>C ENST00000369846.4 c.1769A>G p.Asp590Gly missense_variant benign Li7 Missense Mutation TTK chr6 80715694 80715694 C A g.80715694C>A ENST00000230510.3 c.134C>A p.Thr45Asn missense_variant possibly damaging Li7 Missense Mutation KIAA1009 chr6 84925583 84925583 A G g.84925583A>G ENST00000403245.3 c.230T>C p.Met77Thr missense_variant benign Li7 Missense Mutation ZNF292 chr6 87969586 87969586 G A g.87969586G>A ENST00000369577.3 c.6239G>A p.Arg2080Gln missense_variant possibly damaging Li7 Missense Mutation FBXL4 chr6 99323548 99323548 C T g.99323548C>T ENST00000229971.1 c.1445G>A p.Arg482Gln missense_variant possibly damaging Li7 Missense Mutation EPHB4 chr7 100410776 100410776 C T g.100410776C>T ENST00000358173.3 c.1811G>A p.Arg604Lys missense_variant probably damaging Li7 Missense Mutation LAMB4 chr7 107677954 107677954 C T g.107677954C>T ENST00000205386.4 c.4558G>A p.Asp1520Asn missense_variant benign Li7 Missense Mutation VWDE chr7 12397135 12397135 T A g.12397135T>A ENST00000275358.3 c.3281A>T p.Gln1094Leu missense_variant benign Li7 Missense Mutation ZNF467 chr7 149463149 149463149 C T g.149463149C>T ENST00000302017.3 c.442G>A p.Ala148Thr missense_variant probably damaging Li7 Missense Mutation ZNF862 chr7 149558146 149558146 G C g.149558146G>C ENST00000223210.4 c.1897G>C p.Asp633His missense_variant probably damaging Li7 Missense Mutation FERD3L chr7 19184918 19184918 G T g.19184918G>T ENST00000275461.3 c.68C>A p.Ala23Asp missense_variant benign Li7 Missense Mutation MAD1L1 chr7 2259084 2259084 T C g.2259084T>C ENST00000265854.7 c.479A>G p.Asn160Ser missense_variant benign Li7 Missense Mutation AUTS2 chr7 69755475 69755475 A G g.69755475A>G ENST00000403018.2 c.782A>G p.Lys261Arg missense_variant benign Li7 Missense Mutation PCLO chr7 82764062 82764062 C G g.82764062C>G ENST00000333891.9 c.2804G>C p.Gly935Ala missense_variant probably damaging Li7 Missense Mutation SEMA3D chr7 84629123 84629123 T C g.84629123T>C ENST00000284136.6 c.1967A>G p.Gln656Arg missense_variant possibly damaging Li7 Missense Mutation ZNF706 chr8 102213846 102213846 T A g.102213846T>A ENST00000311212.4 c.124A>T p.Thr42Ser missense_variant benign Li7 Missense Mutation ZNF572 chr8 125989434 125989434 C G g.125989434C>G ENST00000319286.5 c.924C>G p.Ser308Arg missense_variant benign Li7 Missense Mutation OPLAH chr8 145114522 145114522 G A g.145114522G>A ENST00000426825.1 c.343C>T p.R115C missense_variant probably damaging Li7 Missense Mutation BOP1 chr8 145512832 145512832 C T g.145512832C>T ENST00000307404.5 c.253G>A p.Ala85Thr missense_variant benign Li7 Missense Mutation CLN8 chr8 1719257 1719257 A G g.1719257A>G ENST00000331222.4 c.37A>G p.Ile13Val missense_variant benign Li7 Missense Mutation ZNF596 chr8 194656 194656 C A g.194656C>A ENST00000308811.4 c.261C>A p.Phe87Leu missense_variant benign Li7 Missense Mutation DDHD2 chr8 38107316 38107316 T A g.38107316T>A ENST00000397166.2 c.1339T>A p.Ser447Thr missense_variant benign Li7 Missense Mutation NSMAF chr8 59499122 59499122 C T g.59499122C>T ENST00000038176.3 c.2341G>A p.Gly781Ser missense_variant probably damaging Li7 Missense Mutation EYA1 chr8 72211384 72211384 T C g.72211384T>C ENST00000340726.3 c.724A>G p.Ser242Gly missense_variant benign Li7 Missense Mutation JPH1 chr8 75157389 75157389 C A g.75157389C>A ENST00000342232.4 c.1280G>T p.Arg427Ile missense_variant possibly damaging Li7 Missense Mutation TBC1D2 chr9 100983381 100983381 C T g.100983381C>T ENST00000375064.1 c.1108G>A p.Ala370Thr missense_variant probably damaging Li7 Missense Mutation SVEP1 chr9 113228192 113228192 T C g.113228192T>C ENST00000302728.8 c.3275A>G p.Asn1092Ser missense_variant benign Li7 Missense Mutation COL27A1 chr9 116931402 116931402 G A g.116931402G>A ENST00000356083.3 c.1567G>A p.Val523Ile missense_variant benign Li7 Missense Mutation SNAPC4 chr9 139272579 139272579 G C g.139272579G>C ENST00000298532.2 c.3700C>G p.Pro1234Ala missense_variant benign Li7 Missense Mutation C9orf92 chr9 16215221 16215221 C T g.16215221C>T ENST00000380683.1 c.247G>A p.Val83Met missense_variant damaging Li7 Missense Mutation FRMPD3 chrX 106773658 106773658 G T g.106773658G>T ENST00000276185.4 c.267G>T p.Lys89Asn missense_variant damaging Li7 Missense Mutation TLR7 chrX 12904490 12904490 C A g.12904490C>A ENST00000380659.3 c.863C>A p.Ala288Glu missense_variant benign Li7 Missense Mutation FANCB chrX 14862803 14862803 T C g.14862803T>C ENST00000324138.3 c.1987A>G p.Thr663Ala missense_variant probably damaging Li7 Missense Mutation FLNA chrX 153578205 153578205 C A g.153578205C>A ENST00000369850.3 c.7364G>T p.Ser2455Ile missense_variant benign Li7 Missense Mutation MXRA5 chrX 3241105 3241105 A G g.3241105A>G ENST00000217939.6 c.2621T>C p.Leu874Pro missense_variant benign Li7 Missense Mutation APEX2 chrX 55033350 55033350 G A g.55033350G>A ENST00000374987.3 c.1039G>A p.Glu347Lys missense_variant benign Li7 Missense Mutation PABPC5 chrX 90690827 90690827 T A g.90690827T>A ENST00000312600.3 c.251T>A p.Ile84Asn missense_variant probably damaging Huh1 Missense Mutation COL11A1 chr1 103444283 103444283 G A g.103444283G>A ENST00000370096.3 c.2735C>T p.Pro912Leu missense_variant possibly damaging Huh1 Missense Mutation CELSR2 chr1 109793822 109793822 G A g.109793822G>A ENST00000271332.3 c.1121G>A p.Arg374Gln missense_variant possibly damaging Huh1 Missense Mutation ACP6 chr1 147121997 147121997 T C g.147121997T>C ENST00000369238.6 c.926A>G p.Glu309Gly missense_variant possibly damaging Huh1 Missense Mutation ACP6 chr1 147121998 147121998 C T g.147121998C>T ENST00000369238.6 c.925G>A p.Glu309Lys missense_variant benign Huh1 Missense Mutation FLG chr1 152281505 152281505 C A g.152281505C>A ENST00000368799.1 c.5857G>T p.Gly1953Cys missense_variant possibly damaging Huh1 Missense Mutation KRTCAP2 chr1 155145751 155145751 T C g.155145751T>C ENST00000295682.4 c.28A>G p.Ser10Gly missense_variant benign Huh1 Missense Mutation CD5L chr1 157803177 157803177 A T g.157803177A>T ENST00000368174.4 c.844T>A p.Cys282Ser missense_variant probably damaging Huh1 Missense Mutation PLEKHM2 chr1 16053822 16053822 G A g.16053822G>A ENST00000375799.3 c.1255G>A p.Gly419Arg missense_variant probably damaging Huh1 Missense Mutation MAEL chr1 166959040 166959040 A G g.166959040A>G ENST00000367872.4 c.199A>G p.Lys67Glu missense_variant benign Huh1 Missense Mutation POU2F1 chr1 167365538 167365538 G A g.167365538G>A ENST00000420254.3 c.934G>A p.Ala312Thr missense_variant possibly damaging Huh1 Missense Mutation NADK chr1 1691286 1691286 A C g.1691286A>C ENST00000344463.4 c.319T>G p.Ser107Ala missense_variant benign Huh1 Missense Mutation SCYL3 chr1 169836049 169836049 G C g.169836049G>C ENST00000367770.1 c.803C>G p.Thr268Arg missense_variant probably damaging Huh1 Missense Mutation KIAA1614 chr1 180885782 180885782 C G g.180885782C>G ENST00000367588.4 c.543C>G p.Asn181Lys missense_variant benign Huh1 Missense Mutation BRINP3 chr1 190068070 190068070 C T g.190068070C>T ENST00000367462.3 c.1379G>A p.Cys460Tyr missense_variant probably damaging Huh1 Missense Mutation BRINP3 chr1 190195412 190195412 C T g.190195412C>T ENST00000367462.3 c.761G>A p.Arg254His missense_variant benign Huh1 Missense Mutation CAPN8 chr1 223807121 223807121 G A g.223807121G>A ENST00000366873.2 c.1009C>T p.R337W missense_variant probably damaging Huh1 Missense Mutation ITPKB chr1 226924630 226924630 G A g.226924630G>A ENST00000272117.3 c.530C>T p.Pro177Leu missense_variant probably damaging Huh1 Missense Mutation RYR2 chr1 237948091 237948091 C T g.237948091C>T ENST00000366574.2 c.13079C>T p.Ser4360Phe missense_variant benign Huh1 Missense Mutation OR1C1 chr1 247921099 247921099 C T g.247921099C>T ENST00000408896.2 c.610G>A p.Gly204Ser missense_variant benign Huh1 Missense Mutation PGBD2 chr1 249211254 249211254 T G g.249211254T>G ENST00000329291.5 c.471T>G p.Ile157Met missense_variant probably damaging Huh1 Missense Mutation CSMD2 chr1 34025043 34025043 A G g.34025043A>G ENST00000373381.4 c.8411T>C p.V2804A missense_variant benign Huh1 Missense Mutation FAM151A chr1 55078199 55078199 C A g.55078199C>A ENST00000302250.2 c.760G>T p.Ala254Ser missense_variant benign Huh1 Missense Mutation PCSK9 chr1 55505520 55505520 G A g.55505520G>A ENST00000302118.5 c.10G>A p.Val4Ile missense_variant benign Huh1 Missense Mutation GBP3 chr1 89486370 89486370 C T g.89486370C>T ENST00000235878.5 c.35G>A p.Cys12Tyr missense_variant,NMD_transcript_variant probably damaging Huh1 Missense Mutation LRRC8C chr1 90179703 90179703 T G g.90179703T>G ENST00000370454.4 c.1574T>G p.Leu525Arg missense_variant probably damaging Huh1 Missense Mutation ALG14 chr1 95530477 95530477 G A g.95530477G>A ENST00000370205.5 c.233C>T p.Ala78Val missense_variant benign Huh1 Missense Mutation ALG14 chr1 95538442 95538442 G C g.95538442G>C ENST00000370205.5 c.13C>G p.Leu5Val missense_variant benign Huh1 Missense Mutation AFAP1L2 chr10 116085768 116085768 G A g.116085768G>A ENST00000545353.1 c.347C>T p.Ala116Val missense_variant NA Huh1 Missense Mutation GRK5 chr10 121214525 121214525 T G g.121214525T>G ENST00000392870.2 c.1719T>G p.Phe573Leu missense_variant benign Huh1 Missense Mutation DMBT1 chr10 124333243 124333243 C T g.124333243C>T ENST00000330163.4 c.248C>T p.Pro83Leu missense_variant benign Huh1 Missense Mutation MYO3A chr10 26286105 26286105 T G g.26286105T>G ENST00000265944.5 c.426T>G p.His142Gln missense_variant probably damaging Huh1 Missense Mutation GDF10 chr10 48428957 48428957 G A g.48428957G>A ENST00000224605.2 c.929C>T p.Pro310Leu missense_variant possibly damaging Huh1 Missense Mutation SLC18A3 chr10 50819307 50819307 A T g.50819307A>T ENST00000374115.3 c.521A>T p.Asp174Val missense_variant benign Huh1 Missense Mutation PCDH15 chr10 55996624 55996624 G A g.55996624G>A ENST00000320301.6 c.944C>T p.Pro315Leu missense_variant probably damaging Huh1 Missense Mutation FAM208B chr10 5790849 5790849 T C g.5790849T>C ENST00000328090.5 c.5465T>C p.Met1822Thr missense_variant benign Huh1 Missense Mutation IL2RA chr10 6066279 6066279 C T g.6066279C>T ENST00000256876.6 c.295G>A p.Glu99Lys missense_variant benign Huh1 Missense Mutation STOX1 chr10 70644103 70644103 A G g.70644103A>G ENST00000298596.6 c.551A>G p.Tyr184Cys missense_variant probably damaging Huh1 Missense Mutation CDH23 chr10 73498261 73498261 A G g.73498261A>G NM_022124.5 c.4216A>G p.Ile1406Val missense_variant benign Huh1 Missense Mutation CCDC168 chr13 103402683 103402683 C T g.103402683C>T NM_001146197.1 c.364G>A p.Glu122Lys missense_variant unknown Huh1 Missense Mutation PAPSS2 chr10 89504840 89504840 C G g.89504840C>G ENST00000361175.4 c.1558C>G p.Pro520Ala missense_variant probably damaging Huh1 Missense Mutation SORBS1 chr10 97174592 97174592 G A g.97174592G>A ENST00000277982.5 c.469C>T p.Pro157Ser missense_variant benign Huh1 Missense Mutation KIAA1377 chr11 101833978 101833978 G T g.101833978G>T ENST00000263468.8 c.2212G>T p.Val738Leu missense_variant benign Huh1 Missense Mutation ZC3H12C chr11 110035321 110035321 A T g.110035321A>T ENST00000278590.3 c.1511A>T p.Glu504Val missense_variant probably damaging Huh1 Missense Mutation ANKK1 chr11 113264264 113264264 A G g.113264264A>G ENST00000303941.3 c.247A>G p.Ile83Val missense_variant benign Huh1 Missense Mutation USP28 chr11 113723240 113723240 T C g.113723240T>C ENST00000003302.4 c.251A>G p.Asn84Ser missense_variant benign Huh1 Missense Mutation NNMT chr11 114183174 114183174 C T g.114183174C>T ENST00000299964.3 c.770C>T p.Ala257Val missense_variant probably damaging Huh1 Missense Mutation BUD13 chr11 116633763 116633763 C T g.116633763C>T ENST00000260210.4 c.542G>A p.Arg181His missense_variant benign Huh1 Missense Mutation VWA5A chr11 123994434 123994434 G A g.123994434G>A ENST00000360334.4 c.1087G>A p.Asp363Asn missense_variant possibly damaging Huh1 Missense Mutation NLRP6 chr11 279484 279484 G A g.279484G>A ENST00000312165.5 c.187G>A p.Asp63Asn missense_variant probably damaging Huh1 Missense Mutation PRR5L chr11 36453415 36453415 G A g.36453415G>A ENST00000378867.3 c.307G>A p.Ala103Thr missense_variant benign Huh1 Missense Mutation MAPK8IP1 chr11 45925576 45925576 A T g.45925576A>T ENST00000241014.2 c.1530A>T p.Glu510Asp missense_variant possibly damaging Huh1 Missense Mutation NUP160 chr11 47861587 47861587 T C g.47861587T>C ENST00000378460.2 c.556A>G p.Ile186Val missense_variant benign Huh1 Missense Mutation HBD chr11 5255641 5255641 T C g.5255641T>C ENST00000292901.3 c.23A>G p.Glu8Gly missense_variant possibly damaging Huh1 Missense Mutation OR51B6 chr11 5373645 5373645 G A g.5373645G>A ENST00000380219.1 c.908G>A p.Arg303His missense_variant benign Huh1 Missense Mutation OR5D18 chr11 55587812 55587812 G A g.55587812G>A ENST00000333976.4 c.707G>A p.Arg236His missense_variant benign Huh1 Missense Mutation OR8J1 chr11 56128061 56128061 C G g.56128061C>G ENST00000303039.3 c.339C>G p.Ile113Met missense_variant benign Huh1 Missense Mutation OR5M8 chr11 56258485 56258485 C T g.56258485C>T ENST00000327216.2 c.362G>A p.Arg121Gln missense_variant probably damaging Huh1 Missense Mutation FAM111B chr11 58891964 58891964 T C g.58891964T>C ENST00000343597.3 c.394T>C p.Tyr132His missense_variant probably damaging Huh1 Missense Mutation PHRF1 chr11 608608 608608 G C g.608608G>C ENST00000416188.2 c.3149G>C p.Ser1050Thr missense_variant possibly damaging Huh1 Missense Mutation CTSW chr11 65651040 65651040 C A g.65651040C>A ENST00000307886.3 c.1082C>A p.Ala361Asp missense_variant probably damaging Huh1 Missense Mutation PELI3 chr11 66243594 66243594 G A g.66243594G>A ENST00000320740.7 c.1366G>A p.Glu456Lys missense_variant probably damaging Huh1 Missense Mutation RAB38 chr11 87847173 87847173 C T g.87847173C>T ENST00000243662.6 c.619G>A p.Gly207Ser missense_variant benign Huh1 Missense Mutation SCUBE2 chr11 9090941 9090941 C A g.9090941C>A ENST00000309263.3 c.619G>T p.Ala207Ser missense_variant possibly damaging Huh1 Missense Mutation FAT3 chr11 92088460 92088460 G T g.92088460G>T ENST00000298047.6 c.3182G>T p.Ser1061Ile missense_variant probably damaging Huh1 Missense Mutation SCYL2 chr12 100706346 100706346 T C g.100706346T>C ENST00000360820.2 c.767T>C p.Met256Thr missense_variant benign Huh1 Missense Mutation MYBPC1 chr12 102064153 102064153 T C g.102064153T>C ENST00000360610.2 c.2558T>C p.Val853Ala missense_variant possibly damaging Huh1 Missense Mutation TXNRD1 chr12 104713303 104713303 C T g.104713303C>T ENST00000529546.1 c.365C>T p.Ala122Val missense_variant probably damaging Huh1 Missense Mutation KIAA1033 chr12 105531670 105531670 T A g.105531670T>A ENST00000332180.5 c.1333T>A p.Leu445Met missense_variant possibly damaging Huh1 Missense Mutation EIF2S3L chr12 10659613 10659613 T C g.10659613T>C ENST00000322446.3 c.1112T>C p.L371S missense_variant NA Huh1 Missense Mutation SLC6A13 chr12 331757 331757 A G g.331757A>G ENST00000343164.4 c.1456T>C p.Tyr486His missense_variant benign Huh1 Missense Mutation KMT2D chr12 49445166 49445166 T G g.49445166T>G ENST00000301067.7 c.2300A>C p.Glu767Ala missense_variant possibly damaging Huh1 Missense Mutation KRT85 chr12 52758104 52758104 C T g.52758104C>T ENST00000257901.3 c.676G>A p.Val226Ile missense_variant possibly damaging Huh1 Missense Mutation KRT76 chr12 53170667 53170667 G A g.53170667G>A ENST00000332411.2 c.409C>T p.Pro137Ser missense_variant benign Huh1 Missense Mutation SMARCC2 chr12 56559371 56559371 T C g.56559371T>C ENST00000267064.4 c.2870A>G p.Gln957Arg missense_variant probably damaging Huh1 Missense Mutation TPI1 chr12 6978453 6978453 C T g.6978453C>T ENST00000229270.4 c.467C>T p.Ala156Val missense_variant possibly damaging Huh1 Missense Mutation GLIPR1 chr12 75892486 75892486 G A g.75892486G>A ENST00000266659.3 c.632G>A p.Arg211Gln missense_variant probably damaging Huh1 Missense Mutation SOHLH2 chr13 36776110 36776110 C A g.36776110C>A ENST00000317764.6 c.169G>T p.Ala57Ser missense_variant benign Huh1 Missense Mutation LECT1 chr13 53282687 53282687 G A g.53282687G>A ENST00000377962.3 c.773C>T p.Pro258Leu missense_variant probably damaging Huh1 Missense Mutation LECT1 chr13 53307362 53307362 A G g.53307362A>G ENST00000377962.3 c.346T>C p.Phe116Leu missense_variant probably damaging Huh1 Missense Mutation SLITRK1 chr13 84454093 84454093 T C g.84454093T>C ENST00000377084.2 c.1550A>G p.Gln517Arg missense_variant possibly damaging Huh1 Missense Mutation ABCC4 chr13 95818560 95818560 G T g.95818560G>T ENST00000376887.4 c.1886C>A p.Ser629Tyr missense_variant probably damaging Huh1 Missense Mutation ABHD4 chr14 23072463 23072463 G A g.23072463G>A ENST00000418446.2 c.281G>A p.Arg94His missense_variant,NMD_transcript_variant benign Huh1 Missense Mutation SDR39U1 chr14 24909401 24909401 C T g.24909401C>T ENST00000399395.3 c.770G>A p.Arg257His missense_variant probably damaging Huh1 Missense Mutation SFTA3 chr14 36982322 36982322 C T g.36982322C>T ENST00000518002.1 c.37G>A p.Asp13Asn missense_variant,NMD_transcript_variant possibly damaging Huh1 Missense Mutation FAM179B chr14 45537802 45537802 A G g.45537802A>G ENST00000361577.3 c.4766A>G p.Tyr1589Cys missense_variant possibly damaging Huh1 Missense Mutation DAAM1 chr14 59789723 59789723 T A g.59789723T>A ENST00000351081.1 c.554T>A p.Ile185Lys missense_variant probably damaging Huh1 Missense Mutation SERPINA4 chr14 95035799 95035799 C T g.95035799C>T ENST00000298841.5 c.1151C>T p.Ala384Val missense_variant benign Huh1 Missense Mutation MGA chr15 41961174 41961174 T G g.41961174T>G ENST00000219905.7 c.82T>G p.Leu28Val missense_variant possibly damaging Huh1 Missense Mutation SERF2 chr15 44085944 44085944 A C g.44085944A>C ENST00000339624.5 c.176A>C p.Gln59Pro missense_variant damaging Huh1 Missense Mutation PATL2 chr15 44959322 44959322 T C g.44959322T>C ENST00000434130.1 c.1445A>G p.Asn482Ser missense_variant benign Huh1 Missense Mutation C2CD4A chr15 62360042 62360042 G A g.62360042G>A ENST00000355522.5 c.230G>A p.Gly77Asp missense_variant benign Huh1 Missense Mutation ZNF609 chr15 64968292 64968292 T G g.64968292T>G ENST00000326648.3 c.3239T>G p.Ile1080Ser missense_variant benign Huh1 Missense Mutation MTFMT chr15 65295560 65295560 T C g.65295560T>C ENST00000220058.4 c.1010A>G p.Lys337Arg missense_variant benign Huh1 Missense Mutation THAP10 chr15 71174942 71174942 T C g.71174942T>C ENST00000249861.4 c.625A>G p.Thr209Ala missense_variant benign Huh1 Missense Mutation ZNF735 chr7 63673587 63673587 T G g.63673587T>G NM_001159524.1 c.157T>G p.Phe53Val missense_variant benign Huh1 Missense Mutation IMP3 chr15 75932272 75932272 G C g.75932272G>C ENST00000314852.2 c.238C>G p.Leu80Val missense_variant possibly damaging Huh1 Missense Mutation PEAK1 chr15 77472158 77472158 T C g.77472158T>C ENST00000312493.4 c.2111A>G p.Gln704Arg missense_variant probably damaging Huh1 Missense Mutation AKAP13 chr15 86270322 86270322 T C g.86270322T>C ENST00000394518.2 c.6848T>C p.Leu2283Ser missense_variant probably damaging Huh1 Missense Mutation AGBL1 chr15 86702197 86702197 C A g.86702197C>A ENST00000421325.2 c.290C>A p.Ala97Asp missense_variant probably damaging Huh1 Missense Mutation KIF7 chr15 90190186 90190186 G A g.90190186G>A ENST00000394412.3 c.1663C>T p.Pro555Ser missense_variant benign Huh1 Missense Mutation UNKL chr16 1419965 1419965 G A g.1419965G>A ENST00000248104.7 c.43C>T p.Leu15Phe missense_variant possibly damaging Huh1 Missense Mutation CCDC154 chr16 1492492 1492492 T C g.1492492T>C ENST00000389176.3 c.590A>G p.Gln197Arg missense_variant benign Huh1 Missense Mutation ATXN2L chr16 28843561 28843561 G A g.28843561G>A ENST00000325215.6 c.1357G>A p.Ala453Thr missense_variant possibly damaging Huh1 Missense Mutation TBC1D10B chr16 30369344 30369344 C T g.30369344C>T ENST00000409939.3 c.2348G>A p.Arg783Gln missense_variant benign Huh1 Missense Mutation ZSCAN10 chr16 3140599 3140599 G A g.3140599G>A ENST00000252463.2 c.671C>T p.Pro224Leu missense_variant benign Huh1 Missense Mutation AXIN1 chr16 364669 364669 C A g.364669C>A ENST00000262320.3 c.893G>T p.Arg298Leu missense_variant probably damaging Huh1 Missense Mutation ABCC11 chr16 48247427 48247427 C T g.48247427C>T ENST00000353782.5 c.1283G>A p.Arg428Gln missense_variant probably damaging Huh1 Missense Mutation CDH3 chr16 68721619 68721619 C T g.68721619C>T ENST00000264012.4 c.1775C>T p.Thr592Met missense_variant possibly damaging Huh1 Missense Mutation CNTNAP4 chr16 76495948 76495948 G A g.76495948G>A ENST00000478060.1 c.1210G>A p.Ala404Thr missense_variant benign Huh1 Missense Mutation TAF1C chr16 84212735 84212735 G A g.84212735G>A ENST00000378541.4 c.2422C>T p.Pro808Ser missense_variant benign Huh1 Missense Mutation MYH13 chr17 10222370 10222370 C A g.10222370C>A ENST00000252172.4 c.3475G>T p.Gly1159Trp missense_variant probably damaging Huh1 Missense Mutation ATPAF2 chr17 17931689 17931689 C T g.17931689C>T ENST00000444058.1 c.181G>A p.Gly61Ser (Splice) missense_variant,splice_region_variant probably damaging Huh1 Missense Mutation SLC47A1 chr17 19459198 19459198 T A g.19459198T>A ENST00000270570.4 c.829T>A p.Tyr277Asn missense_variant probably damaging Huh1 Missense Mutation TMEM97 chr17 26646276 26646276 C T g.26646276C>T ENST00000226230.6 c.11C>T p.Pro4Leu missense_variant benign Huh1 Missense Mutation FAM222B chr17 27085791 27085791 G A g.27085791G>A ENST00000341217.5 c.1186C>T p.Arg396Cys missense_variant benign Huh1 Missense Mutation AOC3 chr17 41006521 41006521 T G g.41006521T>G ENST00000308423.2 c.1657T>G p.Trp553Gly missense_variant probably damaging Huh1 Missense Mutation ITGA3 chr17 48148685 48148685 G A g.48148685G>A ENST00000007722.7 c.762G>A p.Met254Ile missense_variant benign Huh1 Missense Mutation PDK2 chr17 48183442 48183442 C T g.48183442C>T NM_001199900.1 c.526C>T p.Arg176Trp missense_variant damaging Huh1 Missense Mutation SPATA20 chr17 48628452 48628452 G A g.48628452G>A ENST00000006658.6 c.1477G>A p.Val493Met missense_variant possibly damaging Huh1 Missense Mutation MTMR4 chr17 56572630 56572630 C T g.56572630C>T ENST00000323456.5 c.2873G>A p.Gly958Asp missense_variant probably damaging Huh1 Missense Mutation DDX42 chr17 61894264 61894264 G C g.61894264G>C ENST00000389924.2 c.2050G>C p.Ala684Pro missense_variant benign Huh1 Missense Mutation TEX2 chr17 62270921 62270921 G A g.62270921G>A ENST00000258991.3 c.2174C>T p.Pro725Leu (Splice) missense_variant,splice_region_variant benign Huh1 Missense Mutation NOL11 chr17 65734278 65734278 G C g.65734278G>C ENST00000253247.4 c.1570G>C p.Glu524Gln missense_variant benign Huh1 Missense Mutation SDK2 chr17 71357945 71357945 C G g.71357945C>G ENST00000392650.3 c.5345G>C p.Ser1782Thr missense_variant benign Huh1 Missense Mutation GRIN2C chr17 72851060 72851060 G T g.72851060G>T ENST00000293190.5 c.172C>A p.Leu58Ile missense_variant benign Huh1 Missense Mutation TP53 chr17 7579358 7579358 C A g.7579358C>A ENST00000269305.4 c.329G>T p.Arg110Leu missense_variant benign Huh1 Missense Mutation SOCS3 chr17 76354769 76354769 G T g.76354769G>T ENST00000330871.2 c.408C>A p.Phe136Leu missense_variant benign Huh1 Missense Mutation PFAS chr17 8167178 8167178 G A g.8167178G>A ENST00000314666.6 c.1715G>A p.Arg572Gln missense_variant benign Huh1 Missense Mutation MYOM1 chr18 3112301 3112301 C T g.3112301C>T ENST00000356443.4 c.3413G>A p.Arg1138His missense_variant possibly damaging Huh1 Missense Mutation FHOD3 chr18 34298085 34298085 G C g.34298085G>C ENST00000257209.4 c.2299G>C p.Glu767Gln missense_variant probably damaging Huh1 Missense Mutation DCC chr18 50848524 50848524 G C g.50848524G>C ENST00000442544.2 c.2161G>C p.Asp721His missense_variant probably damaging Huh1 Missense Mutation TCF4 chr18 52942973 52942973 G C g.52942973G>C ENST00000354452.3 c.666C>G p.His222Gln missense_variant possibly damaging Huh1 Missense Mutation CCBE1 chr18 57103223 57103223 C T g.57103223C>T ENST00000439986.4 c.1138G>A p.Ala380Thr missense_variant benign Huh1 Missense Mutation VPS4B chr18 61060766 61060766 C T g.61060766C>T ENST00000238497.5 c.1109G>A p.Arg370Gln missense_variant possibly damaging Huh1 Missense Mutation ATP9B chr18 76856565 76856565 A G g.76856565A>G ENST00000307671.7 c.209A>G p.His70Arg missense_variant benign Huh1 Missense Mutation PTPRM chr18 8296378 8296378 G A g.8296378G>A ENST00000332175.8 c.2728G>A p.Gly910Arg missense_variant probably damaging Huh1 Missense Mutation KEAP1 chr19 10602338 10602338 T A g.10602338T>A ENST00000171111.5 c.1240A>T p.Asn414Tyr missense_variant probably damaging Huh1 Missense Mutation FARSA chr19 13041148 13041148 C T g.13041148C>T ENST00000314606.4 c.392G>A p.Ser131Asn missense_variant benign Huh1 Missense Mutation CACNA1A chr19 13319766 13319766 C T g.13319766C>T ENST00000360228.5 c.6584G>A p.Arg2195Gln missense_variant benign Huh1 Missense Mutation CACNA1A chr19 13397505 13397505 C T g.13397505C>T ENST00000360228.5 c.3365G>A p.Arg1122His missense_variant benign Huh1 Missense Mutation NWD1 chr19 16918852 16918852 C G g.16918852C>G ENST00000379808.3 c.4192C>G p.His1398Asp missense_variant probably damaging Huh1 Missense Mutation KLHL26 chr19 18779976 18779976 G C g.18779976G>C ENST00000300976.4 c.1769G>C p.Arg590Pro missense_variant probably damaging Huh1 Missense Mutation C19orf55 chr19 36250873 36250873 G A g.36250873G>A ENST00000301165.5 c.292G>A p.G98R missense_variant possibly damaging Huh1 Missense Mutation THAP8 chr19 36530272 36530272 G A g.36530272G>A ENST00000292894.1 c.625C>T p.His209Tyr missense_variant benign Huh1 Missense Mutation FBXO17 chr19 39440863 39440863 C T g.39440863C>T ENST00000292852.4 c.97G>A p.Val33Met missense_variant damaging Huh1 Missense Mutation FCGBP chr19 40364169 40364169 C T g.40364169C>T ENST00000221347.6 c.14473G>A p.Val4825Ile missense_variant probably damaging Huh1 Missense Mutation LIPE chr19 42931067 42931067 G C g.42931067G>C ENST00000244289.4 c.235C>G p.Gln79Glu missense_variant possibly damaging Huh1 Missense Mutation PPM1N chr19 46002146 46002146 C T g.46002146C>T ENST00000451287.2 c.416C>T p.Ala139Val missense_variant possibly damaging Huh1 Missense Mutation SLC1A5 chr19 47290898 47290898 C T g.47290898C>T ENST00000542575.2 c.325G>A p.Val109Met missense_variant probably damaging Huh1 Missense Mutation TICAM1 chr19 4816534 4816534 G T g.4816534G>T ENST00000248244.5 c.1856C>A p.Pro619Gln missense_variant possibly damaging Huh1 Missense Mutation TMEM143 chr19 48846608 48846608 C A g.48846608C>A ENST00000293261.3 c.665G>T p.Gly222Val missense_variant possibly damaging Huh1 Missense Mutation ZNF350 chr19 52468990 52468990 C A g.52468990C>A ENST00000243644.4 c.716G>T p.Cys239Phe missense_variant probably damaging Huh1 Missense Mutation NLRP12 chr19 54301639 54301639 C T g.54301639C>T ENST00000324134.6 c.2785G>A p.Ala929Thr missense_variant benign Huh1 Missense Mutation NLRP5 chr19 56544957 56544957 G A g.56544957G>A ENST00000390649.3 c.2497G>A p.Val833Ile missense_variant benign Huh1 Missense Mutation STXBP2 chr19 7706944 7706944 G T g.7706944G>T ENST00000221283.5 c.603G>T p.Leu201Phe missense_variant possibly damaging Huh1 Missense Mutation MUC16 chr19 9025613 9025613 C T g.9025613C>T ENST00000397910.4 c.36841G>A p.Gly12281Ser missense_variant benign Huh1 Missense Mutation MUC16 chr19 9065715 9065715 A C g.9065715A>C ENST00000397910.4 c.21731T>G p.Leu7244Arg missense_variant benign Huh1 Missense Mutation ST6GAL2 chr2 107459814 107459814 A C g.107459814A>C ENST00000361686.4 c.620T>G p.Leu207Arg missense_variant probably damaging Huh1 Missense Mutation NOL10 chr2 10803091 10803091 T C g.10803091T>C ENST00000345985.3 c.671A>G p.Asp224Gly missense_variant benign Huh1 Missense Mutation PDIA6 chr2 10927435 10927435 T C g.10927435T>C ENST00000272227.3 c.1129A>G p.Ser377Gly missense_variant probably damaging Huh1 Missense Mutation FBLN7 chr2 112944907 112944907 G A g.112944907G>A ENST00000331203.2 c.1144G>A p.Gly382Ser missense_variant probably damaging Huh1 Missense Mutation PCDP1 chr2 120395874 120395874 A T g.120395874A>T ENST00000413369.3 c.2014A>T p.T672S missense_variant benign Huh1 Missense Mutation SAP130 chr2 128707508 128707508 T C g.128707508T>C ENST00000259235.3 c.2705A>G p.His902Arg missense_variant possibly damaging Huh1 Missense Mutation ZRANB3 chr2 135960455 135960455 C T g.135960455C>T ENST00000264159.6 c.3088G>A p.Gly1030Arg missense_variant probably damaging Huh1 Missense Mutation TNFAIP6 chr2 152220469 152220469 G T g.152220469G>T ENST00000243347.3 c.107G>T p.Gly36Val missense_variant probably damaging Huh1 Missense Mutation BAZ2B chr2 160310180 160310180 C T g.160310180C>T ENST00000343439.5 c.278G>A p.Gly93Glu missense_variant probably damaging Huh1 Missense Mutation KLHL41 chr2 170366785 170366785 G A g.170366785G>A ENST00000284669.1 c.497G>A p.Cys166Tyr missense_variant benign Huh1 Missense Mutation KLHL23 chr2 170606130 170606130 C T g.170606130C>T ENST00000272797.4 c.1565C>T p.Thr522Met missense_variant possibly damaging Huh1 Missense Mutation TTC30A chr2 178481452 178481452 T A g.178481452T>A ENST00000355689.5 c.1978A>T p.Ile660Phe missense_variant benign Huh1 Missense Mutation TTN chr2 179486343 179486343 T C g.179486343T>C ENST00000591111.1 c.40285A>G p.Ile13429Val missense_variant benign Huh1 Missense Mutation TTN chr2 179615486 179615486 C T g.179615486C>T ENST00000360870.5 c.11641G>A p.Glu3881Lys missense_variant benign Huh1 Missense Mutation DNAH7 chr2 196771709 196771709 C A g.196771709C>A ENST00000312428.6 c.4129G>T p.Ala1377Ser missense_variant benign Huh1 Missense Mutation TYW5 chr2 200797937 200797937 T G g.200797937T>G ENST00000354611.4 c.801A>C p.Lys267Asn missense_variant probably damaging Huh1 Missense Mutation WDR35 chr2 20174240 20174240 T C g.20174240T>C ENST00000281405.4 c.725A>G p.Glu242Gly missense_variant benign Huh1 Missense Mutation TDRD15 chr2 21365905 21365905 G A g.21365905G>A ENST00000405799.1 c.5566G>A p.A1856T missense_variant NA Huh1 Missense Mutation CNPPD1 chr2 220037456 220037456 G A g.220037456G>A ENST00000360507.5 c.1085C>T p.Ala362Val missense_variant benign Huh1 Missense Mutation GMPPA chr2 220368873 220368873 T G g.220368873T>G ENST00000313597.5 c.558T>G p.Phe186Leu missense_variant benign Huh1 Missense Mutation MROH2A chr2 234702396 234702396 G C g.234702396G>C ENST00000389758.3 c.748G>C p.Glu250Gln missense_variant benign Huh1 Missense Mutation ATAD2B chr2 24056890 24056890 C A g.24056890C>A ENST00000238789.5 c.1627G>T p.Val543Phe missense_variant probably damaging Huh1 Missense Mutation SLC8A1 chr2 40342493 40342493 C T g.40342493C>T ENST00000332839.4 c.2822G>A p.Arg941Gln missense_variant probably damaging Huh1 Missense Mutation SLC8A1 chr2 40656547 40656547 C A g.40656547C>A ENST00000332839.4 c.874G>T p.Asp292Tyr missense_variant probably damaging Huh1 Missense Mutation CLHC1 chr2 55436617 55436617 C T g.55436617C>T ENST00000401408.1 c.737G>A p.Ser246Asn missense_variant benign Huh1 Missense Mutation GMCL1 chr2 70057262 70057262 C T g.70057262C>T ENST00000282570.3 c.238C>T p.Arg80Trp missense_variant probably damaging Huh1 Missense Mutation DQX1 chr2 74750129 74750129 C G g.74750129C>G ENST00000393951.2 c.1157G>C p.Cys386Ser missense_variant benign Huh1 Missense Mutation MAT2A chr2 85769851 85769851 G T g.85769851G>T ENST00000306434.3 c.932G>T p.Cys311Phe missense_variant probably damaging Huh1 Missense Mutation KIF3B chr20 30898190 30898190 G A g.30898190G>A ENST00000375712.3 c.610G>A p.Gly204Ser missense_variant probably damaging Huh1 Missense Mutation MYBL2 chr20 42343777 42343777 A G g.42343777A>G ENST00000217026.4 c.1828A>G p.Thr610Ala missense_variant benign Huh1 Missense Mutation STK4 chr20 43610574 43610574 G A g.43610574G>A ENST00000372801.1 c.350G>A p.Arg117Gln missense_variant possibly damaging Huh1 Missense Mutation TCFL5 chr20 61473346 61473346 G A g.61473346G>A ENST00000335351.3 c.1484C>T p.Pro495Leu missense_variant possibly damaging Huh1 Missense Mutation HELZ2 chr20 62194770 62194770 G A g.62194770G>A ENST00000467148.1 c.5405C>T p.Ala1802Val missense_variant benign Huh1 Missense Mutation IGSF5 chr21 41137474 41137474 G C g.41137474G>C ENST00000380588.4 c.113G>C p.Gly38Ala missense_variant possibly damaging Huh1 Missense Mutation KRTAP10-10 chr21 46057766 46057766 G C g.46057766G>C ENST00000380095.1 c.432G>C p.Gln144His missense_variant probably damaging Huh1 Missense Mutation MCM3AP chr21 47705191 47705191 T C g.47705191T>C ENST00000291688.1 c.10A>G p.Thr4Ala missense_variant benign Huh1 Missense Mutation ARVCF chr22 19960326 19960326 G A g.19960326G>A ENST00000263207.3 c.2575C>T p.Pro859Ser missense_variant benign Huh1 Missense Mutation LRP5L chr22 25750688 25750688 T C g.25750688T>C ENST00000402785.2 c.530A>G p.Tyr177Cys missense_variant probably damaging Huh1 Missense Mutation IL2RB chr22 37524365 37524365 G A g.37524365G>A ENST00000216223.5 c.1427C>T p.Thr476Ile missense_variant benign Huh1 Missense Mutation CELSR1 chr22 46787701 46787701 T G g.46787701T>G ENST00000262738.3 c.5977A>C p.Lys1993Gln missense_variant benign Huh1 Missense Mutation CELSR1 chr22 46930444 46930444 G A g.46930444G>A ENST00000262738.3 c.2624C>T p.Thr875Ile missense_variant possibly damaging Huh1 Missense Mutation BFSP2 chr3 133169272 133169272 G C g.133169272G>C ENST00000302334.2 c.855G>C p.Lys285Asn missense_variant probably damaging Huh1 Missense Mutation RASA2 chr3 141289819 141289819 G A g.141289819G>A ENST00000286364.3 c.929G>A p.Arg310Gln missense_variant probably damaging Huh1 Missense Mutation RNF7 chr3 141462354 141462354 C G g.141462354C>G ENST00000273480.3 c.179C>G p.Ala60Gly missense_variant possibly damaging Huh1 Missense Mutation GRK7 chr3 141526628 141526628 G T g.141526628G>T ENST00000264952.2 c.1192G>T p.Val398Phe missense_variant possibly damaging Huh1 Missense Mutation GPR160 chr3 169802578 169802578 T C g.169802578T>C ENST00000355897.5 c.818T>C p.Ile273Thr missense_variant possibly damaging Huh1 Missense Mutation CCDC39 chr3 180397122 180397122 G T g.180397122G>T ENST00000442201.2 c.47C>A p.Ala16Asp missense_variant probably damaging Huh1 Missense Mutation DGKG chr3 185993359 185993359 C T g.185993359C>T ENST00000265022.3 c.887G>A p.Arg296His missense_variant probably damaging Huh1 Missense Mutation CLASP2 chr3 33626359 33626359 T C g.33626359T>C ENST00000468888.2 c.2125A>G p.Thr709Ala missense_variant benign Huh1 Missense Mutation GOLGA4 chr3 37357030 37357030 C T g.37357030C>T ENST00000361924.2 c.1354C>T p.Arg452Cys missense_variant probably damaging Huh1 Missense Mutation GOLGA4 chr3 37365878 37365878 A C g.37365878A>C ENST00000361924.2 c.2501A>C p.Glu834Ala missense_variant probably damaging Huh1 Missense Mutation PRSS50 chr3 46757103 46757103 C T g.46757103C>T ENST00000315170.7 c.392G>A p.Arg131Gln missense_variant benign Huh1 Missense Mutation KLHL18 chr3 47385153 47385153 G A g.47385153G>A ENST00000232766.5 c.1447G>A p.Gly483Arg missense_variant probably damaging Huh1 Missense Mutation DNAH1 chr3 52407058 52407058 G A g.52407058G>A ENST00000420323.2 c.6974G>A p.Arg2325His missense_variant probably damaging Huh1 Missense Mutation TNNC1 chr3 52485773 52485773 G A g.52485773G>A ENST00000232975.3 c.304C>T p.Arg102Cys missense_variant benign Huh1 Missense Mutation STAB1 chr3 52529443 52529443 G A g.52529443G>A ENST00000321725.6 c.14G>A p.Arg5Gln missense_variant benign Huh1 Missense Mutation DNAH12 chr3 57454515 57454515 T C g.57454515T>C ENST00000351747.2 c.2297A>G p.Asn766Ser missense_variant benign Huh1 Missense Mutation PDZRN3 chr3 73440216 73440216 A G g.73440216A>G ENST00000263666.4 c.1306T>C p.Cys436Arg missense_variant probably damaging Huh1 Missense Mutation GRM7 chr3 7721940 7721940 G A g.7721940G>A ENST00000357716.4 c.2656G>A p.Gly886Ser missense_variant possibly damaging Huh1 Missense Mutation ARL13B chr3 93722577 93722577 A G g.93722577A>G ENST00000394222.3 c.205A>G p.Ile69Val missense_variant benign Huh1 Missense Mutation CRYBG3 chr3 97590937 97590937 C A g.97590937C>A ENST00000419587.2 c.899C>A p.Pro300Gln missense_variant unknown Huh1 Missense Mutation IL17RC chr3 9962224 9962224 G A g.9962224G>A ENST00000295981.3 c.728G>A p.Arg243Gln missense_variant benign Huh1 Missense Mutation ZNF518B chr4 10445759 10445759 C G g.10445759C>G ENST00000326756.3 c.2194G>C p.Gly732Arg missense_variant benign Huh1 Missense Mutation LRIT3 chr4 110772995 110772995 A G g.110772995A>G ENST00000594814.1 c.452A>G p.Tyr151Cys missense_variant probably damaging Huh1 Missense Mutation SLC7A11 chr4 139100458 139100458 C T g.139100458C>T ENST00000280612.5 c.1357G>A p.Gly453Ser missense_variant possibly damaging Huh1 Missense Mutation OTUD4 chr4 146073711 146073711 A G g.146073711A>G ENST00000454497.2 c.755T>C p.Val252Ala missense_variant benign Huh1 Missense Mutation CC2D2A chr4 15560840 15560840 T C g.15560840T>C ENST00000413206.1 c.2882T>C p.Ile961Thr missense_variant benign Huh1 Missense Mutation TDO2 chr4 156828929 156828929 C G g.156828929C>G ENST00000536354.2 c.288C>G p.Ile96Met missense_variant benign Huh1 Missense Mutation PROM1 chr4 16010674 16010674 A G g.16010674A>G ENST00000447510.2 c.1199T>C p.Leu400Pro missense_variant probably damaging Huh1 Missense Mutation PROM1 chr4 16035075 16035075 T A g.16035075T>A ENST00000447510.2 c.361A>T p.Ile121Phe missense_variant benign Huh1 Missense Mutation CLCN3 chr4 170581591 170581591 A T g.170581591A>T ENST00000507875.1 c.71A>T p.His24Leu missense_variant benign Huh1 Missense Mutation ADAM29 chr4 175897089 175897089 C T g.175897089C>T ENST00000359240.3 c.413C>T p.Pro138Leu missense_variant probably damaging Huh1 Missense Mutation C4orf6 chr4 5527157 5527157 C T g.5527157C>T ENST00000195455.2 c.100C>T p.Arg34Cys missense_variant benign Huh1 Missense Mutation YTHDC1 chr4 69197856 69197856 T A g.69197856T>A ENST00000344157.4 c.1087A>T p.Asn363Tyr missense_variant probably damaging Huh1 Missense Mutation FAM47E chr4 77172946 77172946 T C g.77172946T>C ENST00000424749.2 c.47T>C p.Val16Ala missense_variant benign Huh1 Missense Mutation PTPN13 chr4 87724906 87724906 G A g.87724906G>A ENST00000411767.2 c.6550G>A p.Val2184Ile missense_variant benign Huh1 Missense Mutation RAP1GDS1 chr4 99341236 99341236 A T g.99341236A>T ENST00000408927.3 c.1241A>T p.Glu414Val missense_variant possibly damaging Huh1 Missense Mutation WDR36 chr5 110446546 110446546 A G g.110446546A>G ENST00000506538.2 c.1669A>G p.Thr557Ala missense_variant benign Huh1 Missense Mutation SLC6A19 chr5 1212445 1212445 C T g.1212445C>T ENST00000304460.10 c.509C>T p.Ser170Phe missense_variant benign Huh1 Missense Mutation SNX2 chr5 122139282 122139282 C T g.122139282C>T ENST00000379516.2 c.617C>T p.Pro206Leu missense_variant probably damaging Huh1 Missense Mutation FBN2 chr5 127673769 127673769 G C g.127673769G>C ENST00000262464.4 c.3518C>G p.Thr1173Ser missense_variant benign Huh1 Missense Mutation DNAH5 chr5 13771024 13771024 G T g.13771024G>T ENST00000265104.4 c.9439C>A p.Gln3147Lys missense_variant benign Huh1 Missense Mutation PROB1 chr5 138730494 138730494 C G g.138730494C>G ENST00000434752.2 c.277G>C p.Gly93Arg missense_variant benign Huh1 Missense Mutation NRG2 chr5 139232506 139232506 C G g.139232506C>G ENST00000361474.1 c.1399G>C p.Glu467Gln missense_variant probably damaging Huh1 Missense Mutation CD14 chr5 140011505 140011505 G C g.140011505G>C ENST00000302014.6 c.1064C>G p.Ser355Trp missense_variant probably damaging Huh1 Missense Mutation PCDHB14 chr5 140603147 140603147 T C g.140603147T>C ENST00000239449.4 c.70T>C p.Ser24Pro missense_variant benign Huh1 Missense Mutation POU4F3 chr5 145719597 145719597 G A g.145719597G>A ENST00000230732.4 c.607G>A p.Val203Met missense_variant probably damaging Huh1 Missense Mutation HMMR chr5 162910278 162910278 G A g.162910278G>A ENST00000358715.3 c.1687G>A p.Ala563Thr missense_variant benign Huh1 Missense Mutation TENM2 chr5 167489111 167489111 A C g.167489111A>C ENST00000518659.1 c.1356A>C p.Glu452Asp missense_variant benign Huh1 Missense Mutation DBN1 chr5 176895200 176895200 G A g.176895200G>A ENST00000309007.5 c.164C>T p.Ser55Leu missense_variant probably damaging Huh1 Missense Mutation UGT3A1 chr5 35954377 35954377 A G g.35954377A>G ENST00000274278.3 c.1499T>C p.Met500Thr missense_variant benign Huh1 Missense Mutation HCN1 chr5 45303919 45303919 C T g.45303919C>T ENST00000303230.4 c.1400G>A p.Arg467Gln missense_variant probably damaging Huh1 Missense Mutation ITGA1 chr5 52206244 52206244 G T g.52206244G>T ENST00000282588.6 c.1852G>T p.Ala618Ser missense_variant benign Huh1 Missense Mutation RASGRF2 chr5 80381646 80381646 A T g.80381646A>T ENST00000265080.4 c.1187A>T p.His396Leu missense_variant probably damaging Huh1 Missense Mutation VCAN chr5 82817707 82817707 A G g.82817707A>G ENST00000265077.3 c.3582A>G p.Ile1194Met missense_variant possibly damaging Huh1 Missense Mutation RFESD chr5 94991839 94991839 C A g.94991839C>A ENST00000311364.4 c.300C>A p.Asn100Lys missense_variant possibly damaging Huh1 Missense Mutation AK9 chr6 109837745 109837745 T C g.109837745T>C ENST00000424296.2 c.3734A>G p.Glu1245Gly missense_variant probably damaging Huh1 Missense Mutation CDK19 chr6 110944546 110944546 T C g.110944546T>C ENST00000368911.3 c.880A>G p.Ile294Val missense_variant benign Huh1 Missense Mutation FAM26F chr6 116783127 116783127 T G g.116783127T>G ENST00000368605.1 c.35T>G p.Val12Gly missense_variant benign Huh1 Missense Mutation LAMA2 chr6 129687414 129687414 G C g.129687414G>C ENST00000421865.2 c.4768G>C p.Glu1590Gln missense_variant benign Huh1 Missense Mutation FOXQ1 chr6 1313330 1313330 G A g.1313330G>A ENST00000296839.2 c.391G>A p.Ala131Thr missense_variant probably damaging Huh1 Missense Mutation HECA chr6 139488222 139488222 G A g.139488222G>A ENST00000367658.2 c.1073G>A p.Arg358Lys missense_variant probably damaging Huh1 Missense Mutation PHACTR2 chr6 144093540 144093540 A G g.144093540A>G ENST00000427704.2 c.1345A>G p.Ile449Val missense_variant benign Huh1 Missense Mutation ADGB chr6 147022135 147022135 G A g.147022135G>A ENST00000397944.3 c.1636G>A p.Val546Ile missense_variant benign Huh1 Missense Mutation TIAM2 chr6 155451184 155451184 G T g.155451184G>T ENST00000318981.5 c.827G>T p.Ser276Ile missense_variant possibly damaging Huh1 Missense Mutation LPA chr6 160969618 160969618 T C g.160969618T>C ENST00000316300.5 c.5047A>G p.Ile1683Val missense_variant benign Huh1 Missense Mutation MAP3K4 chr6 161508882 161508882 G A g.161508882G>A ENST00000348824.7 c.2719G>A p.Gly907Ser missense_variant benign Huh1 Missense Mutation UNC93A chr6 167708177 167708177 T G g.167708177T>G ENST00000230256.3 c.260T>G p.Phe87Cys missense_variant possibly damaging Huh1 Missense Mutation FAM65B chr6 24806639 24806639 C T g.24806639C>T ENST00000259698.4 c.3169G>A p.Gly1057Arg missense_variant probably damaging Huh1 Missense Mutation ZSCAN12 chr6 28358680 28358680 G A g.28358680G>A ENST00000361028.1 c.1387C>T p.His463Tyr missense_variant probably damaging Huh1 Missense Mutation HLA-F chr6 29694944 29694944 T C g.29694944T>C ENST00000259951.7 c.1321T>C p.Phe441Leu missense_variant benign Huh1 Missense Mutation MUC22 chr6 30995636 30995636 A G g.30995636A>G ENST00000561890.1 c.2428A>G p.Thr810Ala missense_variant benign Huh1 Missense Mutation SKIV2L chr6 31928276 31928276 C T g.31928276C>T ENST00000375394.2 c.422C>T p.Ala141Val missense_variant benign Huh1 Missense Mutation PSMB9 chr6 32827301 32827301 G C g.32827301G>C ENST00000374859.2 c.652G>C p.Asp218His missense_variant probably damaging Huh1 Missense Mutation KCNK17 chr6 39272335 39272335 C T g.39272335C>T ENST00000373231.4 c.449G>A p.Arg150Gln missense_variant possibly damaging Huh1 Missense Mutation CUL7 chr6 43016266 43016266 G A g.43016266G>A ENST00000265348.3 c.1867C>T p.Arg623Cys missense_variant possibly damaging Huh1 Missense Mutation EXOC2 chr6 532488 532488 C G g.532488C>G ENST00000230449.4 c.2361G>C p.Lys787Asn missense_variant benign Huh1 Missense Mutation EYS chr6 64516100 64516100 G C g.64516100G>C ENST00000370616.2 c.7394C>G p.Thr2465Ser missense_variant probably damaging Huh1 Missense Mutation RREB1 chr6 7230720 7230720 C G g.7230720C>G ENST00000334984.6 c.2388C>G p.Ser796Arg missense_variant benign Huh1 Missense Mutation RIOK1 chr6 7403054 7403054 C T g.7403054C>T ENST00000379834.2 c.691C>T p.Arg231Cys missense_variant probably damaging Huh1 Missense Mutation GABRR1 chr6 89890138 89890138 T A g.89890138T>A ENST00000454853.2 c.1019A>T p.Tyr340Phe missense_variant probably damaging Huh1 Missense Mutation MUC17 chr7 100681674 100681674 C G g.100681674C>G ENST00000306151.4 c.6977C>G p.Thr2326Ser missense_variant benign Huh1 Missense Mutation CYP2W1 chr7 1027129 1027129 G A g.1027129G>A ENST00000308919.7 c.1105G>A p.Ala369Thr missense_variant benign Huh1 Missense Mutation PAX4 chr7 127254587 127254587 G A g.127254587G>A ENST00000341640.2 c.361C>T p.Arg121Trp missense_variant probably damaging Huh1 Missense Mutation IRF5 chr7 128587812 128587812 C T g.128587812C>T ENST00000249375.4 c.769C>T p.Arg257Trp missense_variant probably damaging Huh1 Missense Mutation AGBL3 chr7 134800245 134800245 G A g.134800245G>A ENST00000436302.2 c.2224G>A p.Val742Ile missense_variant benign Huh1 Missense Mutation KRBA1 chr7 149419530 149419530 T A g.149419530T>A ENST00000255992.10 c.484T>A p.W162R missense_variant benign Huh1 Missense Mutation LOC100996634 chr6 109583214 109583214 G T g.109583214G>T NM_001277339.1 c.1116G>T p.E372D missense_variant benign Huh1 Missense Mutation ABCF2 chr7 150912032 150912032 G A g.150912032G>A ENST00000222388.2 c.1667C>T p.Ala556Val missense_variant probably damaging Huh1 Missense Mutation DPP6 chr7 153749913 153749913 C T g.153749913C>T ENST00000377770.3 c.8C>T p.Ser3Leu missense_variant probably damaging Huh1 Missense Mutation DNAH11 chr7 21757408 21757408 G T g.21757408G>T ENST00000409508.3 c.6999G>T p.Trp2333Cys missense_variant probably damaging Huh1 Missense Mutation SDK1 chr7 4008958 4008958 A G g.4008958A>G ENST00000389531.3 c.1616A>G p.Gln539Arg missense_variant benign Huh1 Missense Mutation ABCA13 chr7 48311421 48311421 A G g.48311421A>G ENST00000435803.1 c.2158A>G p.Lys720Glu missense_variant benign Huh1 Missense Mutation WBSCR28 chr7 73279513 73279513 T C g.73279513T>C ENST00000320531.2 c.263T>C p.Val88Ala missense_variant possibly damaging Huh1 Missense Mutation RSBN1L chr7 77408108 77408108 C G g.77408108C>G ENST00000334955.8 c.2164C>G p.His722Asp missense_variant possibly damaging Huh1 Missense Mutation TECPR1 chr7 97870494 97870494 G T g.97870494G>T ENST00000379795.3 c.720C>A p.Asp240Glu missense_variant benign Huh1 Missense Mutation PINX1 chr8 10683679 10683679 T C g.10683679T>C ENST00000314787.3 c.377A>G p.Tyr126Cys missense_variant probably damaging Huh1 Missense Mutation ZNF707 chr8 144776062 144776062 C T g.144776062C>T ENST00000358656.4 c.478C>T p.Arg160Trp missense_variant probably damaging Huh1 Missense Mutation EPPK1 chr8 144945672 144945672 C T g.144945672C>T ENST00000525985.1 c.1750G>A p.E584K missense_variant possibly damaging Huh1 Missense Mutation PLEC chr8 144993029 144993029 C T g.144993029C>T ENST00000322810.4 c.11371G>A p.Glu3791Lys missense_variant benign Huh1 Missense Mutation PLEC chr8 144999757 144999757 C T g.144999757C>T ENST00000322810.4 c.4751G>A p.Arg1584Gln missense_variant benign Huh1 Missense Mutation C8orf33 chr8 146278069 146278069 C A g.146278069C>A ENST00000331434.6 c.104C>A p.Ala35Asp missense_variant benign Huh1 Missense Mutation PXDNL chr8 52321089 52321089 C T g.52321089C>T ENST00000356297.4 c.3095G>A p.Gly1032Asp missense_variant benign Huh1 Missense Mutation RP1 chr8 55540691 55540691 C G g.55540691C>G ENST00000220676.1 c.4249C>G p.Leu1417Val missense_variant benign Huh1 Missense Mutation TGS1 chr8 56711543 56711543 A G g.56711543A>G ENST00000260129.5 c.1613A>G p.Asp538Gly missense_variant benign Huh1 Missense Mutation CRH chr8 67089430 67089430 C T g.67089430C>T ENST00000276571.3 c.283G>A p.Ala95Thr missense_variant benign Huh1 Missense Mutation TRPA1 chr8 72987607 72987607 T A g.72987607T>A ENST00000262209.4 c.38A>T p.Glu13Val missense_variant benign Huh1 Missense Mutation ABCA1 chr9 107593982 107593982 T C g.107593982T>C ENST00000374736.3 c.1636A>G p.Ile546Val missense_variant benign Huh1 Missense Mutation FKBP15 chr9 115930811 115930811 G C g.115930811G>C ENST00000238256.3 c.3511C>G p.Leu1171Val missense_variant probably damaging Huh1 Missense Mutation COL27A1 chr9 116931124 116931124 C T g.116931124C>T ENST00000356083.3 c.1289C>T p.Pro430Leu missense_variant benign Huh1 Missense Mutation OR1J1 chr9 125239844 125239844 T C g.125239844T>C ENST00000259357.2 c.362A>G p.Asp121Gly missense_variant probably damaging Huh1 Missense Mutation POMT1 chr9 134381586 134381586 C A g.134381586C>A ENST00000372228.3 c.208C>A p.His70Asn missense_variant probably damaging Huh1 Missense Mutation EHMT1 chr9 140611623 140611623 G A g.140611623G>A ENST00000460843.1 c.631G>A p.Val211Ile missense_variant benign Huh1 Missense Mutation DOCK8 chr9 317064 317064 C A g.317064C>A ENST00000453981.1 c.763C>A p.Pro255Thr missense_variant benign Huh1 Missense Mutation GLIPR2 chr9 36147852 36147852 C G g.36147852C>G ENST00000377959.1 c.83C>G p.Pro28Arg missense_variant possibly damaging Huh1 Missense Mutation CCIN chr9 36170682 36170682 C G g.36170682C>G ENST00000335119.2 c.1183C>G p.Arg395Gly missense_variant benign Huh1 Missense Mutation SPATA31E1 chr9 90501553 90501553 C A g.90501553C>A ENST00000325643.5 c.2151C>A p.Ser717Arg missense_variant benign Huh1 Missense Mutation WNK2 chr9 96055097 96055097 G A g.96055097G>A ENST00000395477.2 c.5350G>A p.Val1821Met missense_variant probably damaging Huh1 Missense Mutation NUP62CL chrX 106396447 106396447 C G g.106396447C>G ENST00000372466.4 c.485G>C p.Ser162Thr missense_variant probably damaging Huh1 Missense Mutation RBMXL3 chrX 114425872 114425872 G A g.114425872G>A ENST00000424776.3 c.1868G>A p.Arg623His missense_variant probably damaging Huh1 Missense Mutation ARSD chrX 2833638 2833638 C T g.2833638C>T ENST00000381154.1 c.959G>A p.Gly320Asp missense_variant probably damaging Huh1 Missense Mutation NR0B1 chrX 30327329 30327329 C T g.30327329C>T ENST00000378970.4 c.152G>A p.Arg51Lys missense_variant possibly damaging Huh1 Missense Mutation DMD chrX 31496263 31496263 A G g.31496263A>G ENST00000357033.4 c.8897T>C p.Leu2966Pro missense_variant probably damaging Huh1 Missense Mutation FAAH2 chrX 57358238 57358238 C T g.57358238C>T ENST00000374900.4 c.620C>T p.Ser207Phe (Splice) missense_variant,splice_region_variant probably damaging Huh1 Missense Mutation SHROOM2 chrX 9900582 9900582 G A g.9900582G>A ENST00000380913.3 c.3259G>A p.Val1087Met missense_variant benign Huh1 Missense Mutation TGIF2LY chrY 3447793 3447793 A G g.3447793A>G ENST00000321217.4 c.508A>G p.Arg170Gly missense_variant probably damaging JHH1 Missense Mutation GPR61 chr1 110086402 110086402 G A g.110086402G>A ENST00000404129.2 c.758G>A p.Arg253Gln missense_variant,NMD_transcript_variant probably damaging JHH1 Missense Mutation CD101 chr1 117568514 117568514 G A g.117568514G>A ENST00000256652.4 c.2812G>A p.Val938Met missense_variant probably damaging JHH1 Missense Mutation CCNL2 chr1 1334613 1334613 G C g.1334613G>C ENST00000400809.3 c.74C>G p.Ser25Cys missense_variant possibly damaging JHH1 Missense Mutation TMEM240 chr1 1470999 1470999 C T g.1470999C>T ENST00000378733.4 c.343G>A p.Val115Met missense_variant probably damaging JHH1 Missense Mutation CGN chr1 151503083 151503083 G T g.151503083G>T ENST00000271636.7 c.2432G>T p.Arg811Leu missense_variant possibly damaging JHH1 Missense Mutation FHAD1 chr1 15578369 15578369 T C g.15578369T>C ENST00000358897.4 c.89T>C p.Leu30Ser missense_variant probably damaging JHH1 Missense Mutation TMEM79 chr1 156261328 156261328 G A g.156261328G>A ENST00000295694.5 c.1124G>A p.Arg375His missense_variant benign JHH1 Missense Mutation HAPLN2 chr1 156594985 156594985 C T g.156594985C>T ENST00000255039.1 c.832C>T p.Leu278Phe missense_variant probably damaging JHH1 Missense Mutation CRABP2 chr1 156670686 156670686 C T g.156670686C>T ENST00000368220.1 c.229G>A p.Val77Met missense_variant probably damaging JHH1 Missense Mutation ATP1A2 chr1 160093019 160093019 G T g.160093019G>T ENST00000361216.3 c.194G>T p.Arg65Leu missense_variant benign JHH1 Missense Mutation FMO3 chr1 171077348 171077348 C T g.171077348C>T ENST00000367755.4 c.613C>T p.Arg205Cys missense_variant benign JHH1 Missense Mutation METTL13 chr1 171753456 171753456 G A g.171753456G>A ENST00000361735.3 c.730G>A p.Glu244Lys missense_variant benign JHH1 Missense Mutation TNR chr1 175375547 175375547 T C g.175375547T>C ENST00000263525.2 c.304A>G p.Met102Val missense_variant benign JHH1 Missense Mutation NPHS2 chr1 179533851 179533851 G A g.179533851G>A ENST00000367615.4 c.352C>T p.Pro118Ser missense_variant probably damaging JHH1 Missense Mutation QSOX1 chr1 180151339 180151339 G A g.180151339G>A ENST00000367600.5 c.637G>A p.Val213Met missense_variant possibly damaging JHH1 Missense Mutation LHX4 chr1 180243701 180243701 A C g.180243701A>C ENST00000263726.2 c.1160A>C p.His387Pro missense_variant probably damaging JHH1 Missense Mutation RGS8 chr1 182635145 182635145 G A g.182635145G>A ENST00000367556.1 c.152C>T p.Thr51Met missense_variant benign JHH1 Missense Mutation FAM129A chr1 184777288 184777288 G A g.184777288G>A ENST00000367511.3 c.1255C>T p.Arg419Cys missense_variant probably damaging JHH1 Missense Mutation PRG4 chr1 186278263 186278263 A G g.186278263A>G ENST00000445192.2 c.3412A>G p.Met1138Val missense_variant benign JHH1 Missense Mutation LGR6 chr1 202287634 202287634 G A g.202287634G>A ENST00000367278.3 c.2203G>A p.Ala735Thr missense_variant possibly damaging JHH1 Missense Mutation MDM4 chr1 204499917 204499917 C T g.204499917C>T ENST00000367180.1 c.259C>T p.Arg87Cys missense_variant benign JHH1 Missense Mutation FAIM3 chr1 207078464 207078464 G A g.207078464G>A ENST00000367091.3 c.1073C>T p.Pro358Leu missense_variant benign JHH1 Missense Mutation CD55 chr1 207510142 207510142 A G g.207510142A>G ENST00000314754.8 c.958A>G p.Thr320Ala missense_variant benign JHH1 Missense Mutation DUSP10 chr1 221912618 221912618 T C g.221912618T>C ENST00000366899.3 c.469A>G p.Lys157Glu missense_variant benign JHH1 Missense Mutation TRIM17 chr1 228598783 228598783 A G g.228598783A>G ENST00000295033.3 c.620T>C p.Leu207Pro missense_variant probably damaging JHH1 Missense Mutation HEATR1 chr1 236760146 236760146 T C g.236760146T>C ENST00000366581.2 c.734A>G p.Tyr245Cys missense_variant probably damaging JHH1 Missense Mutation CHML chr1 241798479 241798479 T A g.241798479T>A ENST00000366553.1 c.590A>T p.Asp197Val missense_variant benign JHH1 Missense Mutation PDZD7 chr10 102776181 102776181 C T g.102776181C>T NM_001195263.1 c.1526G>A p.Gly509Glu missense_variant unknown JHH1 Missense Mutation OR2M3 chr1 248367142 248367142 T C g.248367142T>C ENST00000456743.1 c.773T>C p.Met258Thr missense_variant benign JHH1 Missense Mutation OR2T3 chr1 248637441 248637441 T C g.248637441T>C ENST00000359594.2 c.790T>C p.Tyr264His missense_variant probably damaging JHH1 Missense Mutation TEKT2 chr1 36552436 36552436 G A g.36552436G>A ENST00000207457.3 c.620G>A p.Arg207His missense_variant probably damaging JHH1 Missense Mutation MANEAL chr1 38260258 38260258 C T g.38260258C>T ENST00000373045.6 c.404C>T p.Pro135Leu missense_variant benign JHH1 Missense Mutation SZT2 chr1 43896971 43896971 C A g.43896971C>A ENST00000562955.1 c.4781C>A p.Ser1594Tyr missense_variant probably damaging JHH1 Missense Mutation HPDL chr1 45793130 45793130 G A g.45793130G>A ENST00000334815.3 c.310G>A p.Val104Ile missense_variant possibly damaging JHH1 Missense Mutation ZYG11A chr1 53323078 53323078 C T g.53323078C>T ENST00000371528.1 c.665C>T p.Ala222Val missense_variant benign JHH1 Missense Mutation MROH7 chr1 55119384 55119384 G A g.55119384G>A ENST00000339553.5 c.785G>A p.Gly262Glu missense_variant benign JHH1 Missense Mutation RNF207 chr1 6272378 6272378 G A g.6272378G>A ENST00000377939.4 c.1384G>A p.Glu462Lys missense_variant possibly damaging JHH1 Missense Mutation LPHN2 chr1 82416747 82416747 C G g.82416747C>G ENST00000271029.4 c.1538C>G p.Pro513Arg missense_variant possibly damaging JHH1 Missense Mutation SSX2IP chr1 85127972 85127972 T A g.85127972T>A ENST00000342203.3 c.836A>T p.Lys279Met missense_variant probably damaging JHH1 Missense Mutation CLCA2 chr1 86904748 86904748 A G g.86904748A>G ENST00000370565.4 c.1162A>G p.Thr388Ala missense_variant benign JHH1 Missense Mutation CCDC147 chr10 106207474 106207474 A G g.106207474A>G ENST00000369704.3 c.2275A>G p.Met759Val missense_variant benign JHH1 Missense Mutation SORCS3 chr10 106916969 106916969 A G g.106916969A>G ENST00000369701.3 c.1556A>G p.Asn519Ser missense_variant probably damaging JHH1 Missense Mutation TTC40 chr10 134649717 134649717 C T g.134649717C>T ENST00000368586.5 c.6542G>A p.Arg2181His missense_variant benign JHH1 Missense Mutation MKX chr10 27964273 27964273 G T g.27964273G>T ENST00000375790.5 c.944C>A p.Thr315Lys missense_variant probably damaging JHH1 Missense Mutation WDFY4 chr10 49996695 49996695 T A g.49996695T>A ENST00000325239.5 c.3929T>A p.Val1310Glu missense_variant probably damaging JHH1 Missense Mutation A1CF chr10 52575814 52575814 T G g.52575814T>G ENST00000282641.2 c.1093A>C p.Lys365Gln missense_variant probably damaging JHH1 Missense Mutation SUPV3L1 chr10 70940132 70940132 C A g.70940132C>A ENST00000359655.4 c.85C>A p.Arg29Ser missense_variant possibly damaging JHH1 Missense Mutation ADAMTS14 chr10 72493645 72493645 G A g.72493645G>A ENST00000373207.1 c.1213G>A p.Gly405Ser missense_variant probably damaging JHH1 Missense Mutation UNC5B chr10 73053616 73053616 G A g.73053616G>A ENST00000335350.6 c.2101G>A p.Ala701Thr missense_variant benign JHH1 Missense Mutation BTAF1 chr10 93751878 93751878 T A g.93751878T>A ENST00000265990.6 c.2857T>A p.Ser953Thr (Splice) missense_variant,splice_region_variant benign JHH1 Missense Mutation MUC2 chr11 1077608 1077608 C T g.1077608C>T ENST00000359061.5 c.358C>T p.P120S missense_variant probably damaging JHH1 Missense Mutation DSCAML1 chr11 117667868 117667868 G A g.117667868G>A ENST00000321322.6 c.107C>T p.Ala36Val missense_variant damaging JHH1 Missense Mutation KIRREL3 chr11 126301231 126301231 C A g.126301231C>A ENST00000525704.2 c.1779G>T p.Gln593His missense_variant damaging JHH1 Missense Mutation SIRT3 chr11 230540 230540 G C g.230540G>C ENST00000382743.4 c.719C>G p.Pro240Arg missense_variant probably damaging JHH1 Missense Mutation LDLRAD3 chr11 36250784 36250784 C T g.36250784C>T ENST00000315571.5 c.875C>T p.Pro292Leu missense_variant probably damaging JHH1 Missense Mutation PGAP2 chr11 3845325 3845325 G A g.3845325G>A NM_001283039.1 c.502G>A p.Val168Ile missense_variant benign JHH1 Missense Mutation RRM1 chr11 4133277 4133277 G A g.4133277G>A ENST00000300738.5 c.635G>A p.Arg212His missense_variant benign JHH1 Missense Mutation OR4C3 chr11 48346910 48346910 C A g.48346910C>A ENST00000319856.4 c.418C>A p.Leu140Ile missense_variant probably damaging JHH1 Missense Mutation OR51H1P chr11 4881596 4881596 T C g.4881596T>C ENST00000322059.1 c.199A>G p.I67V missense_variant NA JHH1 Missense Mutation ANKRD13D chr11 67059185 67059185 G A g.67059185G>A ENST00000511455.2 c.509G>A p.Arg170Gln missense_variant probably damaging JHH1 Missense Mutation ANKRD13D chr11 67069243 67069243 C G g.67069243C>G ENST00000511455.2 c.1553C>G p.Ala518Gly missense_variant benign JHH1 Missense Mutation DHCR7 chr11 71150073 71150073 C T g.71150073C>T ENST00000355527.3 c.683G>A p.Arg228Gln missense_variant probably damaging JHH1 Missense Mutation TENM4 chr11 78574076 78574076 C T g.78574076C>T ENST00000278550.7 c.1186G>A p.Val396Ile missense_variant benign JHH1 Missense Mutation CCDC89 chr11 85396554 85396554 C A g.85396554C>A ENST00000316398.3 c.620G>T p.Arg207Leu missense_variant possibly damaging JHH1 Missense Mutation MTNR1B chr11 92714996 92714996 G A g.92714996G>A ENST00000257068.2 c.607G>A p.Ala203Thr missense_variant benign JHH1 Missense Mutation C11orf54 chr11 93490548 93490548 C G g.93490548C>G ENST00000331239.4 c.574C>G p.L192V missense_variant damaging JHH1 Missense Mutation TMEM119 chr12 108985778 108985778 A G g.108985778A>G ENST00000392806.3 c.382T>C p.Tyr128His missense_variant probably damaging JHH1 Missense Mutation ACACB chr12 109609642 109609642 G A g.109609642G>A ENST00000338432.7 c.958G>A p.Val320Ile missense_variant probably damaging JHH1 Missense Mutation C12orf49 chr12 117175615 117175615 G A g.117175615G>A ENST00000261318.3 c.91C>T p.Leu31Phe missense_variant benign JHH1 Missense Mutation GCN1L1 chr12 120599825 120599825 G A g.120599825G>A ENST00000300648.6 c.2201C>T p.Ser734Leu missense_variant benign JHH1 Missense Mutation TMEM132C chr12 128899408 128899408 C T g.128899408C>T ENST00000435159.2 c.217C>T p.Arg73Trp missense_variant damaging JHH1 Missense Mutation CACNA1C chr12 2788763 2788763 G A g.2788763G>A ENST00000347598.4 c.5389G>A p.Val1797Met missense_variant possibly damaging JHH1 Missense Mutation LRP1 chr12 57578911 57578911 C A g.57578911C>A ENST00000243077.3 c.6386C>A p.Thr2129Lys missense_variant possibly damaging JHH1 Missense Mutation EEA1 chr12 93181764 93181764 T C g.93181764T>C ENST00000322349.8 c.3029A>G p.Glu1010Gly missense_variant possibly damaging JHH1 Missense Mutation KLRF1 chr12 9980198 9980198 G A g.9980198G>A ENST00000279544.3 c.58G>A p.A20T missense_variant benign JHH1 Missense Mutation RXFP2 chr13 32366083 32366083 C A g.32366083C>A ENST00000298386.2 c.1286C>A p.Thr429Asn missense_variant probably damaging JHH1 Missense Mutation ESD chr13 47351743 47351743 G C g.47351743G>C ENST00000378720.3 c.616C>G p.His206Asp missense_variant benign JHH1 Missense Mutation SCEL chr13 78188051 78188051 A G g.78188051A>G ENST00000349847.3 c.1412A>G p.His471Arg missense_variant benign JHH1 Missense Mutation AHNAK2 chr14 105406732 105406732 G A g.105406732G>A ENST00000333244.5 c.15056C>T p.Pro5019Leu missense_variant benign JHH1 Missense Mutation OR11H6 chr14 20692334 20692334 G A g.20692334G>A ENST00000315519.2 c.466G>A p.Gly156Arg missense_variant benign JHH1 Missense Mutation KLHL33 chr14 20898003 20898003 C T g.20898003C>T ENST00000344581.4 c.832G>A p.Gly278Arg missense_variant probably damaging JHH1 Missense Mutation ARHGEF40 chr14 21546629 21546629 G A g.21546629G>A ENST00000298693.3 c.2228G>A p.Arg743His missense_variant probably damaging JHH1 Missense Mutation SYNE2 chr14 64588751 64588751 G C g.64588751G>C ENST00000344113.4 c.13180G>C p.Glu4394Gln missense_variant probably damaging JHH1 Missense Mutation ANGEL1 chr14 77257115 77257115 G T g.77257115G>T ENST00000251089.2 c.1691C>A p.Thr564Asn (Splice) missense_variant,splice_region_variant benign JHH1 Missense Mutation UNC79 chr14 94121728 94121728 A G g.94121728A>G ENST00000256339.4 c.6017A>G p.Lys2006Arg missense_variant benign JHH1 Missense Mutation ASB2 chr14 94405623 94405623 A C g.94405623A>C ENST00000315988.4 c.1304T>G p.Met435Arg missense_variant probably damaging JHH1 Missense Mutation CCDC85C chr14 99982609 99982609 G T g.99982609G>T ENST00000380243.4 c.1086C>A p.His362Gln missense_variant probably damaging JHH1 Missense Mutation MKRN3 chr15 23812028 23812028 A G g.23812028A>G ENST00000314520.3 c.1099A>G p.Thr367Ala missense_variant benign JHH1 Missense Mutation MAGEL2 chr15 23890017 23890017 C A g.23890017C>A NM_019066.4 c.2873G>T p.Trp958Leu missense_variant probably damaging JHH1 Missense Mutation THBS1 chr15 39876363 39876363 C T g.39876363C>T ENST00000260356.5 c.878C>T p.Thr293Met missense_variant probably damaging JHH1 Missense Mutation EIF2AK4 chr15 40293330 40293330 G A g.40293330G>A ENST00000263791.5 c.3064G>A p.Val1022Met missense_variant possibly damaging JHH1 Missense Mutation CASC5 chr15 40933209 40933209 C T g.40933209C>T ENST00000346991.5 c.5860C>T p.Arg1954Cys missense_variant benign JHH1 Missense Mutation EHD4 chr15 42264644 42264644 C A g.42264644C>A ENST00000220325.4 c.49G>T p.Gly17Cys missense_variant probably damaging JHH1 Missense Mutation FRMD5 chr15 44166419 44166419 C G g.44166419C>G ENST00000402883.1 c.1377G>C p.Glu459Asp missense_variant benign JHH1 Missense Mutation UNC13C chr15 54306548 54306548 G C g.54306548G>C ENST00000260323.11 c.1448G>C p.Ser483Thr missense_variant benign JHH1 Missense Mutation CGNL1 chr15 57731497 57731497 C G g.57731497C>G ENST00000281282.5 c.1300C>G p.Arg434Gly missense_variant benign JHH1 Missense Mutation KIAA1199 chr15 81218023 81218023 C T g.81218023C>T ENST00000220244.3 c.2347C>T p.His783Tyr missense_variant possibly damaging JHH1 Missense Mutation FSD2 chr15 83451590 83451590 G A g.83451590G>A ENST00000334574.8 c.923C>T p.Thr308Ile missense_variant probably damaging JHH1 Missense Mutation FES chr15 91428447 91428447 G A g.91428447G>A ENST00000328850.3 c.172G>A p.Gly58Ser missense_variant benign JHH1 Missense Mutation SMG1 chr16 18846356 18846356 G C g.18846356G>C ENST00000389467.3 c.8188C>G p.Gln2730Glu missense_variant benign JHH1 Missense Mutation HS3ST6 chr16 1961712 1961712 T C g.1961712T>C ENST00000443547.1 c.815A>G p.Lys272Arg missense_variant benign JHH1 Missense Mutation DNAH3 chr16 20944724 20944724 C T g.20944724C>T ENST00000261383.3 c.12103G>A p.Gly4035Arg missense_variant probably damaging JHH1 Missense Mutation TNRC6A chr16 24804937 24804937 A C g.24804937A>C ENST00000315183.7 c.3319A>C p.Ser1107Arg missense_variant benign JHH1 Missense Mutation HIRIP3 chr16 30004674 30004674 T C g.30004674T>C ENST00000279392.3 c.1525A>G p.Thr509Ala missense_variant possibly damaging JHH1 Missense Mutation SLC5A2 chr16 31501827 31501827 G A g.31501827G>A ENST00000330498.3 c.1990G>A p.Ala664Thr missense_variant probably damaging JHH1 Missense Mutation UBN1 chr16 4921170 4921170 A G g.4921170A>G ENST00000262376.6 c.1574A>G p.Gln525Arg missense_variant benign JHH1 Missense Mutation ADCY7 chr16 50347917 50347917 G A g.50347917G>A ENST00000254235.3 c.2800G>A p.Gly934Ser missense_variant probably damaging JHH1 Missense Mutation SEC14L5 chr16 5053536 5053536 G A g.5053536G>A ENST00000251170.7 c.1264G>A p.Val422Met missense_variant probably damaging JHH1 Missense Mutation SEC14L5 chr16 5057470 5057470 C T g.5057470C>T ENST00000251170.7 c.1555C>T p.Arg519Cys missense_variant benign JHH1 Missense Mutation RPL13 chr16 89628077 89628077 A G g.89628077A>G ENST00000311528.5 c.338A>G p.Asn113Ser missense_variant possibly damaging JHH1 Missense Mutation LMF1 chr16 919041 919041 C T g.919041C>T ENST00000262301.11 c.1432G>A p.Asp478Asn missense_variant benign JHH1 Missense Mutation MYH8 chr17 10302972 10302972 C A g.10302972C>A ENST00000403437.2 c.3750G>T p.Lys1250Asn missense_variant probably damaging JHH1 Missense Mutation TNFRSF13B chr17 16852271 16852271 C T g.16852271C>T ENST00000261652.2 c.226G>A p.Gly76Ser missense_variant probably damaging JHH1 Missense Mutation CLUH chr17 2598522 2598522 G A g.2598522G>A ENST00000435359.1 c.2480C>T p.Thr827Met missense_variant possibly damaging JHH1 Missense Mutation VTN chr17 26695914 26695914 C T g.26695914C>T ENST00000226218.4 c.805G>A p.Glu269Lys missense_variant possibly damaging JHH1 Missense Mutation SGK494 chr17 26938202 26938202 G A g.26938202G>A ENST00000301037.5 c.970C>T p.Pro324Ser missense_variant damaging JHH1 Missense Mutation PEX12 chr17 33904102 33904102 T C g.33904102T>C ENST00000225873.4 c.635A>G p.Glu212Gly missense_variant benign JHH1 Missense Mutation C17orf85 chr17 3743430 3743430 T C g.3743430T>C ENST00000389005.4 c.319A>G p.Arg107Gly missense_variant possibly damaging JHH1 Missense Mutation GSDMA chr17 38127822 38127822 G A g.38127822G>A ENST00000301659.4 c.604G>A p.Val202Ile missense_variant benign JHH1 Missense Mutation ZBTB4 chr17 7367016 7367016 T A g.7367016T>A ENST00000311403.4 c.1285A>T p.Thr429Ser missense_variant benign JHH1 Missense Mutation TP53I13 chr17 27899205 27899205 A T g.27899205A>T ENST00000301057.7 c.559A>T p.Thr187Ser missense_variant benign JHH1 Missense Mutation ALOX15B chr17 7951863 7951863 G C g.7951863G>C ENST00000380183.4 c.2011G>C p.Glu671Gln missense_variant probably damaging JHH1 Missense Mutation GCGR chr17 79771513 79771513 C T g.79771513C>T ENST00000400723.3 c.1382C>T p.Ala461Val missense_variant benign JHH1 Missense Mutation NOTUM chr17 79915760 79915760 A T g.79915760A>T ENST00000409678.3 c.617T>A p.Leu206His missense_variant probably damaging JHH1 Missense Mutation OGFOD3 chr17 80356089 80356089 G A g.80356089G>A ENST00000313056.5 c.806C>T p.Thr269Met missense_variant probably damaging JHH1 Missense Mutation ZNF519 chr18 14105703 14105703 T C g.14105703T>C ENST00000590202.1 c.836A>G p.His279Arg missense_variant benign JHH1 Missense Mutation B4GALT6 chr18 29246237 29246237 T G g.29246237T>G ENST00000306851.5 c.214A>C p.Ser72Arg missense_variant benign JHH1 Missense Mutation MEP1B chr18 29793475 29793475 G A g.29793475G>A ENST00000269202.6 c.1532G>A p.Arg511His missense_variant possibly damaging JHH1 Missense Mutation FHOD3 chr18 34298578 34298578 G T g.34298578G>T ENST00000257209.4 c.2792G>T p.Cys931Phe missense_variant benign JHH1 Missense Mutation SKOR2 chr18 44774201 44774201 C T g.44774201C>T ENST00000425639.1 c.1354G>A p.Gly452Ser missense_variant benign JHH1 Missense Mutation LAMA1 chr18 7080381 7080381 G A g.7080381G>A ENST00000389658.3 c.137C>T p.Pro46Leu missense_variant probably damaging JHH1 Missense Mutation COL5A3 chr19 10114362 10114362 C T g.10114362C>T ENST00000264828.3 c.728G>A p.Arg243His missense_variant possibly damaging JHH1 Missense Mutation RGL3 chr19 11517217 11517217 G A g.11517217G>A ENST00000380456.3 c.874C>T p.Arg292Cys missense_variant probably damaging JHH1 Missense Mutation SAMD1 chr19 14200156 14200156 C G g.14200156C>G ENST00000533683.2 c.655G>C p.V219L missense_variant benign JHH1 Missense Mutation JUND chr19 18392212 18392212 G A g.18392212G>A ENST00000252818.3 c.83C>T p.Pro28Leu missense_variant benign JHH1 Missense Mutation ZNF253 chr19 20002651 20002651 C T g.20002651C>T ENST00000589717.1 c.595C>T p.Pro199Ser missense_variant possibly damaging JHH1 Missense Mutation RHPN2 chr19 33470969 33470969 C T g.33470969C>T ENST00000254260.3 c.1994G>A p.Arg665Gln missense_variant possibly damaging JHH1 Missense Mutation C19orf55 chr19 36252966 36252966 C T g.36252966C>T ENST00000301165.5 c.358C>T p.R120C missense_variant possibly damaging JHH1 Missense Mutation THAP8 chr19 36530272 36530272 G A g.36530272G>A ENST00000292894.1 c.625C>T p.His209Tyr missense_variant benign JHH1 Missense Mutation WDR87 chr19 38385400 38385400 C G g.38385400C>G ENST00000303868.5 c.826G>C p.Gly276Arg missense_variant probably damaging JHH1 Missense Mutation MEGF8 chr19 42880103 42880103 C T g.42880103C>T ENST00000334370.4 c.7513C>T p.Arg2505Trp missense_variant probably damaging JHH1 Missense Mutation PHLDB3 chr19 43983714 43983714 G T g.43983714G>T ENST00000292140.5 c.1517C>A p.Pro506Gln missense_variant benign JHH1 Missense Mutation CBLC chr19 45296762 45296762 G A g.45296762G>A ENST00000270279.3 c.1169G>A p.Arg390His missense_variant probably damaging JHH1 Missense Mutation VASP chr19 46021238 46021238 C T g.46021238C>T ENST00000245932.6 c.229C>T p.Pro77Ser missense_variant probably damaging JHH1 Missense Mutation TMEM143 chr19 48846608 48846608 C A g.48846608C>A ENST00000293261.3 c.665G>T p.Gly222Val missense_variant possibly damaging JHH1 Missense Mutation SYNGR4 chr19 48876897 48876897 G A g.48876897G>A ENST00000344846.2 c.217G>A p.Gly73Ser missense_variant probably damaging JHH1 Missense Mutation KLK10 chr19 51518195 51518195 C T g.51518195C>T ENST00000309958.3 c.692G>A p.Gly231Asp missense_variant probably damaging JHH1 Missense Mutation SIGLEC6 chr19 52033031 52033031 C T g.52033031C>T ENST00000343300.4 c.959G>A p.Arg320His missense_variant benign JHH1 Missense Mutation LENG8 chr19 54967363 54967363 T G g.54967363T>G ENST00000326764.5 c.1243T>G p.Ser415Ala missense_variant benign JHH1 Missense Mutation NLRP2 chr19 55481528 55481528 A G g.55481528A>G ENST00000263437.6 c.145A>G p.Lys49Glu missense_variant benign JHH1 Missense Mutation EPS8L1 chr19 55591187 55591187 G A g.55591187G>A ENST00000201647.6 c.247G>A p.Asp83Asn missense_variant benign JHH1 Missense Mutation SSC5D chr19 56029670 56029670 A G g.56029670A>G ENST00000389623.6 c.4027A>G p.Thr1343Ala missense_variant benign JHH1 Missense Mutation ZNF552 chr19 58319826 58319826 G T g.58319826G>T ENST00000391701.1 c.806C>A p.Thr269Lys missense_variant benign JHH1 Missense Mutation A1BG chr19 58864341 58864341 G A g.58864341G>A ENST00000263100.3 c.293C>T p.Ser98Phe missense_variant benign JHH1 Missense Mutation SLC25A23 chr19 6442078 6442078 C T g.6442078C>T ENST00000301454.4 c.1315G>A p.Ala439Thr missense_variant benign JHH1 Missense Mutation MUC16 chr19 9060211 9060211 T A g.9060211T>A ENST00000397910.4 c.27235A>T p.Ile9079Phe missense_variant possibly damaging JHH1 Missense Mutation MUC16 chr19 9067302 9067302 G T g.9067302G>T ENST00000397910.4 c.20144C>A p.Thr6715Asn missense_variant possibly damaging JHH1 Missense Mutation TBC1D8 chr2 101638893 101638893 T C g.101638893T>C ENST00000376840.4 c.2566A>G p.Ile856Val missense_variant benign JHH1 Missense Mutation STAM2 chr2 153000465 153000465 A T g.153000465A>T ENST00000263904.4 c.580T>A p.Ser194Thr missense_variant benign JHH1 Missense Mutation TTN chr2 179635205 179635205 C T g.179635205C>T ENST00000342992.6 c.8314G>A p.Val2772Met missense_variant benign JHH1 Missense Mutation TFPI chr2 188348899 188348899 C T g.188348899C>T ENST00000233156.3 c.580G>A p.Val194Met missense_variant benign JHH1 Missense Mutation HECW2 chr2 197194329 197194329 A G g.197194329A>G ENST00000260983.3 c.541T>C p.Ser181Pro missense_variant benign JHH1 Missense Mutation NIF3L1 chr2 201757042 201757042 C A g.201757042C>A ENST00000409020.1 c.376C>A p.Pro126Thr missense_variant probably damaging JHH1 Missense Mutation RHBDD1 chr2 227729495 227729495 C G g.227729495C>G ENST00000341329.3 c.86C>G p.Pro29Arg missense_variant probably damaging JHH1 Missense Mutation SPHKAP chr2 228884216 228884216 C T g.228884216C>T ENST00000344657.5 c.1354G>A p.Val452Ile missense_variant benign JHH1 Missense Mutation UGT1A10 chr2 234545345 234545345 G A g.234545345G>A ENST00000344644.5 c.177G>A p.Met59Ile missense_variant benign JHH1 Missense Mutation UGT1A9 chr2 234581346 234581346 G A g.234581346G>A ENST00000354728.4 c.766G>A p.Asp256Asn missense_variant damaging JHH1 Missense Mutation FARP2 chr2 242343336 242343336 C G g.242343336C>G ENST00000264042.3 c.277C>G p.Gln93Glu missense_variant possibly damaging JHH1 Missense Mutation AGBL5 chr2 27282135 27282135 G T g.27282135G>T ENST00000323064.8 c.1952G>T p.Ser651Ile missense_variant probably damaging JHH1 Missense Mutation TRAPPC12 chr2 3483048 3483048 G A g.3483048G>A ENST00000324266.5 c.2024G>A p.Arg675Gln missense_variant probably damaging JHH1 Missense Mutation VIT chr2 37041400 37041400 A G g.37041400A>G ENST00000389975.3 c.1933A>G p.Arg645Gly missense_variant benign JHH1 Missense Mutation HAAO chr2 42997664 42997664 G A g.42997664G>A ENST00000294973.6 c.409C>T p.Leu137Phe missense_variant probably damaging JHH1 Missense Mutation PPP1R21 chr2 48738512 48738512 G T g.48738512G>T ENST00000294952.8 c.2218G>T p.Asp740Tyr missense_variant probably damaging JHH1 Missense Mutation CYP26B1 chr2 72359467 72359467 C G g.72359467C>G ENST00000001146.2 c.1428G>C p.Leu476Phe missense_variant benign JHH1 Missense Mutation AGAP11 chr10 88768676 88768676 A G g.88768676A>G NM_133447.1 c.667A>G p.Ile223Val missense_variant benign JHH1 Missense Mutation C20orf144 chr20 32251440 32251440 G A g.32251440G>A ENST00000375222.3 c.229G>A p.Ala77Thr missense_variant probably damaging JHH1 Missense Mutation SPINT3 chr20 44141415 44141415 A T g.44141415A>T ENST00000217428.6 c.146T>A p.Met49Lys missense_variant benign JHH1 Missense Mutation GCNT7 chr20 55070297 55070297 G A g.55070297G>A NM_080615.1 c.1027C>T p.Arg343Trp missense_variant benign JHH1 Missense Mutation DOPEY2 chr21 37584276 37584276 C A g.37584276C>A ENST00000399151.3 c.785C>A p.Ser262Tyr missense_variant benign JHH1 Missense Mutation TRAPPC10 chr21 45457771 45457771 C T g.45457771C>T ENST00000291574.4 c.248C>T p.Thr83Met missense_variant probably damaging JHH1 Missense Mutation PRAME chr22 22892596 22892596 C G g.22892596C>G ENST00000398741.1 c.505G>C p.Glu169Gln missense_variant possibly damaging JHH1 Missense Mutation PIWIL3 chr22 25158391 25158391 C T g.25158391C>T ENST00000332271.5 c.76G>A p.Gly26Arg missense_variant benign JHH1 Missense Mutation GAS2L1 chr22 29704208 29704208 A G g.29704208A>G ENST00000341313.6 c.113A>G p.N38S missense_variant possibly damaging JHH1 Missense Mutation SEC14L3 chr22 30864607 30864607 C T g.30864607C>T ENST00000215812.4 c.311G>A p.Gly104Glu missense_variant probably damaging JHH1 Missense Mutation SSTR3 chr22 37602809 37602809 G A g.37602809G>A ENST00000328544.3 c.1034C>T p.Pro345Leu missense_variant benign JHH1 Missense Mutation APOBEC3D chr22 39428289 39428289 C A g.39428289C>A ENST00000216099.8 c.1129C>A p.Leu377Met missense_variant damaging JHH1 Missense Mutation MYH15 chr3 108163602 108163602 T G g.108163602T>G ENST00000273353.3 c.2600A>C p.Glu867Ala missense_variant probably damaging JHH1 Missense Mutation EFCC1 chr3 128757698 128757698 A G g.128757698A>G ENST00000480450.1 c.1615A>G p.Lys539Glu missense_variant probably damaging JHH1 Missense Mutation NUP210 chr3 13378290 13378290 G C g.13378290G>C ENST00000254508.5 c.3681C>G p.His1227Gln missense_variant benign JHH1 Missense Mutation XPC chr3 14209838 14209838 G A g.14209838G>A ENST00000285021.7 c.455C>T p.Ala152Val missense_variant benign JHH1 Missense Mutation SLC9A9 chr3 143271257 143271257 C T g.143271257C>T ENST00000316549.6 c.1036G>A p.Ala346Thr missense_variant probably damaging JHH1 Missense Mutation FGD5 chr3 14860702 14860702 G A g.14860702G>A ENST00000285046.5 c.124G>A p.Val42Ile missense_variant benign JHH1 Missense Mutation IGSF10 chr3 151155987 151155987 G T g.151155987G>T ENST00000282466.3 c.6362C>A p.Ala2121Asp missense_variant probably damaging JHH1 Missense Mutation ARL14 chr3 160395279 160395279 G A g.160395279G>A ENST00000320767.2 c.145G>A p.Val49Met missense_variant probably damaging JHH1 Missense Mutation ZNF619 chr3 40528498 40528498 A G g.40528498A>G ENST00000314686.5 c.449A>G p.Gln150Arg missense_variant possibly damaging JHH1 Missense Mutation ZNF502 chr3 44762848 44762848 A G g.44762848A>G ENST00000296091.4 c.539A>G p.Glu180Gly missense_variant possibly damaging JHH1 Missense Mutation MAP4 chr3 47957978 47957978 C A g.47957978C>A ENST00000360240.6 c.1339G>T p.Ala447Ser missense_variant benign JHH1 Missense Mutation GMPPB chr3 49759220 49759220 C T g.49759220C>T ENST00000308388.6 c.1048G>A p.Gly350Ser missense_variant benign JHH1 Missense Mutation NEK4 chr3 52802418 52802418 T G g.52802418T>G ENST00000233027.5 c.296A>C p.Lys99Thr missense_variant probably damaging JHH1 Missense Mutation CCDC66 chr3 56651378 56651378 G T g.56651378G>T ENST00000394672.3 c.2082G>T p.Met694Ile missense_variant benign JHH1 Missense Mutation FLNB chr3 58135711 58135711 G A g.58135711G>A ENST00000295956.4 c.6226G>A p.Ala2076Thr missense_variant probably damaging JHH1 Missense Mutation OR5H14 chr3 97868861 97868861 T A g.97868861T>A ENST00000437310.1 c.632T>A p.Ile211Lys missense_variant probably damaging JHH1 Missense Mutation TET2 chr4 106156895 106156895 A G g.106156895A>G ENST00000265149.5 c.1796A>G p.Gln599Arg missense_variant,NMD_transcript_variant probably damaging JHH1 Missense Mutation ETNPPL chr4 109675802 109675802 C G g.109675802C>G ENST00000296486.3 c.475G>C p.Asp159His missense_variant probably damaging JHH1 Missense Mutation OTUD4 chr4 146073711 146073711 A G g.146073711A>G ENST00000454497.2 c.755T>C p.Val252Ala missense_variant benign JHH1 Missense Mutation LRBA chr4 151793891 151793891 G C g.151793891G>C ENST00000357115.3 c.2182C>G p.Leu728Val missense_variant benign JHH1 Missense Mutation FGG chr4 155533288 155533288 G C g.155533288G>C ENST00000336098.3 c.189C>G p.Asp63Glu missense_variant benign JHH1 Missense Mutation MSMO1 chr4 166261451 166261451 G T g.166261451G>T ENST00000261507.6 c.610G>T p.Val204Leu missense_variant benign JHH1 Missense Mutation MFAP3L chr4 170926738 170926738 T A g.170926738T>A ENST00000361618.3 c.291A>T p.Arg97Ser missense_variant benign JHH1 Missense Mutation RGS12 chr4 3318813 3318813 C T g.3318813C>T ENST00000336727.3 c.916C>T p.Pro306Ser missense_variant probably damaging JHH1 Missense Mutation COX7B2 chr4 46737077 46737077 T G g.46737077T>G ENST00000302930.5 c.133A>C p.Ser45Arg missense_variant benign JHH1 Missense Mutation TMPRSS11B chr4 69096991 69096991 C T g.69096991C>T ENST00000332644.5 c.616G>A p.Gly206Ser missense_variant probably damaging JHH1 Missense Mutation CPZ chr4 8621090 8621090 G A g.8621090G>A ENST00000360986.4 c.1705G>A p.Ala569Thr missense_variant benign JHH1 Missense Mutation SHROOM1 chr5 132159168 132159168 G T g.132159168G>T ENST00000319854.3 c.2000C>A p.Thr667Lys missense_variant benign JHH1 Missense Mutation PCDHGB6 chr5 140787964 140787964 G C g.140787964G>C ENST00000520790.1 c.195G>C p.Lys65Asn missense_variant benign JHH1 Missense Mutation SH3TC2 chr5 148427475 148427475 G A g.148427475G>A ENST00000323829.5 c.229C>T p.Arg77Trp missense_variant,NMD_transcript_variant probably damaging JHH1 Missense Mutation MAP1B chr5 71490624 71490624 C T g.71490624C>T ENST00000296755.7 c.1442C>T p.Ala481Val missense_variant possibly damaging JHH1 Missense Mutation BEND3 chr6 107391061 107391061 G T g.107391061G>T ENST00000369042.1 c.1334C>A p.Pro445Gln missense_variant possibly damaging JHH1 Missense Mutation MAP3K4 chr6 161469837 161469837 C T g.161469837C>T ENST00000348824.7 c.533C>T p.Ser178Leu missense_variant benign JHH1 Missense Mutation MBOAT1 chr6 20124770 20124770 G A g.20124770G>A ENST00000324607.7 c.776C>T p.Thr259Met missense_variant probably damaging JHH1 Missense Mutation BTN2A1 chr6 26459769 26459769 C T g.26459769C>T ENST00000312541.5 c.143C>T p.Thr48Met missense_variant benign JHH1 Missense Mutation SKIV2L chr6 31931768 31931768 C T g.31931768C>T ENST00000375394.2 c.1726C>T p.Arg576Trp missense_variant probably damaging JHH1 Missense Mutation STK19 chr6 31946695 31946695 C G g.31946695C>G ENST00000375331.2 c.583C>G p.Gln195Glu missense_variant benign JHH1 Missense Mutation CMTR1 chr6 37427378 37427378 G A g.37427378G>A ENST00000373451.4 c.1013G>A p.Arg338His missense_variant probably damaging JHH1 Missense Mutation ECI2 chr6 4126379 4126379 C T g.4126379C>T ENST00000380118.3 c.664G>A p.Val222Ile missense_variant benign JHH1 Missense Mutation SLC29A1 chr6 44198557 44198557 C T g.44198557C>T ENST00000371708.1 c.697C>T p.Arg233Cys missense_variant probably damaging JHH1 Missense Mutation KHDRBS2 chr6 62407145 62407145 A G g.62407145A>G ENST00000281156.4 c.907T>C p.Tyr303His missense_variant probably damaging JHH1 Missense Mutation FUT9 chr6 96651948 96651948 A G g.96651948A>G ENST00000302103.5 c.917A>G p.Asp306Gly missense_variant probably damaging JHH1 Missense Mutation CTTNBP2 chr7 117501325 117501325 T C g.117501325T>C ENST00000160373.3 c.127A>G p.Met43Val missense_variant benign JHH1 Missense Mutation MAD1L1 chr7 2255621 2255621 T A g.2255621T>A ENST00000265854.7 c.823A>T p.Thr275Ser missense_variant benign JHH1 Missense Mutation MAD1L1 chr7 2255622 2255622 C A g.2255622C>A ENST00000265854.7 c.822G>T p.Glu274Asp missense_variant benign JHH1 Missense Mutation CDK13 chr7 40132834 40132834 C T g.40132834C>T ENST00000181839.4 c.3686C>T p.Ser1229Leu (Splice) missense_variant,splice_region_variant benign JHH1 Missense Mutation SDK1 chr7 4218194 4218194 G C g.4218194G>C ENST00000404826.2 c.5074G>C p.Val1692Leu missense_variant possibly damaging JHH1 Missense Mutation POLD2 chr7 44161690 44161690 C T g.44161690C>T NM_006230.3 c.68G>A p.Gly23Asp missense_variant NA JHH1 Missense Mutation CASP8AP2 chr6 90577698 90577698 T G g.90577698T>G NM_001137667.1 c.4689T>G p.D1563E missense_variant benign JHH1 Missense Mutation ZNF107 chr7 64167308 64167308 T C g.64167308T>C ENST00000344930.3 c.626T>C p.Ile209Thr missense_variant benign JHH1 Missense Mutation OXR1 chr8 107726154 107726154 A T g.107726154A>T ENST00000442977.2 c.1900A>T p.Ile634Phe missense_variant benign JHH1 Missense Mutation PKHD1L1 chr8 110406693 110406693 G T g.110406693G>T ENST00000378402.5 c.790G>T p.Ala264Ser missense_variant benign JHH1 Missense Mutation TBC1D31 chr8 124140584 124140584 A T g.124140584A>T ENST00000287380.1 c.1948A>T p.Met650Leu missense_variant benign JHH1 Missense Mutation LYPD2 chr8 143831786 143831786 A G g.143831786A>G ENST00000359228.3 c.293T>C p.Leu98Pro missense_variant probably damaging JHH1 Missense Mutation EPPK1 chr8 144940953 144940953 G A g.144940953G>A ENST00000525985.1 c.6469C>T p.L2157F missense_variant benign JHH1 Missense Mutation PLEC chr8 145007158 145007158 G A g.145007158G>A ENST00000322810.4 c.1951C>T p.Arg651Cys missense_variant probably damaging JHH1 Missense Mutation CPSF1 chr8 145619133 145619133 G A g.145619133G>A ENST00000349769.3 c.3980C>T p.Ser1327Leu missense_variant benign JHH1 Missense Mutation LRRC14 chr8 145746690 145746690 G A g.145746690G>A ENST00000292524.1 c.1310G>A p.Gly437Asp missense_variant benign JHH1 Missense Mutation NRG1 chr8 32579528 32579528 T C g.32579528T>C ENST00000518084.1 c.8T>C p.Ile3Thr missense_variant damaging JHH1 Missense Mutation TGFBR1 chr9 101907127 101907127 G C g.101907127G>C ENST00000374994.4 c.1087G>C p.Asp363His missense_variant possibly damaging JHH1 Missense Mutation OR13F1 chr9 107267207 107267207 C T g.107267207C>T ENST00000334726.2 c.664C>T p.Leu222Phe missense_variant probably damaging JHH1 Missense Mutation ACTL7A chr9 111625705 111625705 G C g.111625705G>C ENST00000333999.3 c.1103G>C p.Ser368Thr missense_variant benign JHH1 Missense Mutation TMEM245 chr9 111882114 111882114 A G g.111882114A>G ENST00000374586.3 c.80T>C p.Val27Ala missense_variant benign JHH1 Missense Mutation CCDC183 chr9 139700582 139700582 T G g.139700582T>G ENST00000338005.6 c.1001T>G p.Leu334Arg missense_variant possibly damaging JHH1 Missense Mutation IFNA6 chr9 21350577 21350577 G A g.21350577G>A ENST00000380210.1 c.310C>T p.Leu104Phe missense_variant possibly damaging JHH1 Missense Mutation DOCK8 chr9 334361 334361 T G g.334361T>G ENST00000453981.1 c.1262T>G p.Val421Gly missense_variant benign JHH1 Missense Mutation TLE4 chr9 82336712 82336712 C G g.82336712C>G ENST00000376552.2 c.1895C>G p.Thr632Ser missense_variant benign JHH1 Missense Mutation WNK2 chr9 96031160 96031160 C T g.96031160C>T ENST00000297954.4 c.4072C>T p.R1358C missense_variant unknown JHH1 Missense Mutation VSIG1 chrX 107304722 107304722 C T g.107304722C>T ENST00000415430.3 c.278C>T p.Thr93Met missense_variant unknown JHH1 Missense Mutation KLHL15 chrX 24024725 24024725 A G g.24024725A>G ENST00000328046.8 c.86T>C p.Leu29Ser missense_variant probably damaging JHH1 Missense Mutation MXRA5 chrX 3241105 3241105 A G g.3241105A>G ENST00000217939.6 c.2621T>C p.Leu874Pro missense_variant benign JHH1 Missense Mutation TAF1 chrX 70643015 70643015 G T g.70643015G>T ENST00000373790.4 c.4498G>T p.Asp1500Tyr missense_variant probably damaging JHH2 Missense Mutation DBT chr1 100696450 100696450 G A g.100696450G>A ENST00000370131.3 c.272C>T p.Thr91Ile missense_variant benign JHH2 Missense Mutation EXTL2 chr1 101339831 101339831 G C g.101339831G>C ENST00000370113.3 c.660C>G p.Ser220Arg missense_variant benign JHH2 Missense Mutation CELSR2 chr1 109792780 109792780 C T g.109792780C>T ENST00000271332.3 c.79C>T p.Pro27Ser missense_variant benign JHH2 Missense Mutation TARDBP chr1 11080604 11080604 T A g.11080604T>A ENST00000240185.3 c.662T>A p.Phe221Tyr missense_variant possibly damaging JHH2 Missense Mutation SLC16A4 chr1 110921937 110921937 G C g.110921937G>C ENST00000369779.4 c.568C>G p.Pro190Ala missense_variant possibly damaging JHH2 Missense Mutation PHGDH chr1 120284468 120284468 C T g.120284468C>T ENST00000369409.4 c.1157C>T p.Ala386Val missense_variant benign JHH2 Missense Mutation MFN2 chr1 12065963 12065963 G A g.12065963G>A ENST00000235329.5 c.1691G>A p.Arg564Gln missense_variant possibly damaging JHH2 Missense Mutation PIP5K1A chr1 151204758 151204758 A C g.151204758A>C ENST00000368888.4 c.403A>C p.Asn135His missense_variant possibly damaging JHH2 Missense Mutation FLG chr1 152279617 152279617 C G g.152279617C>G ENST00000368799.1 c.7745G>C p.Arg2582Thr missense_variant benign JHH2 Missense Mutation FLG2 chr1 152331326 152331326 A G g.152331326A>G ENST00000388718.5 c.35T>C p.Ile12Thr missense_variant possibly damaging JHH2 Missense Mutation KAZN chr1 15382719 15382719 C T g.15382719C>T ENST00000376030.2 c.859C>T p.Arg287Trp missense_variant probably damaging JHH2 Missense Mutation CRTC2 chr1 153925051 153925051 T G g.153925051T>G ENST00000368633.1 c.698A>C p.Lys233Thr missense_variant probably damaging JHH2 Missense Mutation KCNN3 chr1 154842210 154842210 C A g.154842210C>A ENST00000271915.4 c.231G>T p.Gln77His missense_variant benign JHH2 Missense Mutation UBQLN4 chr1 156011760 156011760 G A g.156011760G>A ENST00000368309.3 c.1369C>T p.Leu457Phe missense_variant probably damaging JHH2 Missense Mutation ARHGEF19 chr1 16525116 16525116 C T g.16525116C>T ENST00000270747.3 c.2375G>A p.Ser792Asn missense_variant benign JHH2 Missense Mutation DUSP27 chr1 167096794 167096794 C T g.167096794C>T ENST00000271385.5 c.2426C>T p.Ala809Val missense_variant benign JHH2 Missense Mutation ARHGEF10L chr1 18023630 18023630 G A g.18023630G>A ENST00000361221.3 c.3595G>A p.Ala1199Thr missense_variant benign JHH2 Missense Mutation HMCN1 chr1 186057112 186057112 C G g.186057112C>G ENST00000271588.4 c.9412C>G p.Arg3138Gly missense_variant probably damaging JHH2 Missense Mutation HMCN1 chr1 186062340 186062340 C A g.186062340C>A ENST00000271588.4 c.9962C>A p.Ala3321Asp missense_variant probably damaging JHH2 Missense Mutation IPO9 chr1 201837847 201837847 A G g.201837847A>G ENST00000361565.4 c.1927A>G p.Met643Val missense_variant benign JHH2 Missense Mutation KDM5B chr1 202736088 202736088 G A g.202736088G>A ENST00000367264.2 c.677C>T p.Pro226Leu missense_variant benign JHH2 Missense Mutation KDM5B chr1 202736091 202736091 C A g.202736091C>A ENST00000367264.2 c.674G>T p.Cys225Phe missense_variant possibly damaging JHH2 Missense Mutation TRAF5 chr1 211542802 211542802 C G g.211542802C>G ENST00000261464.5 c.798C>G p.Asp266Glu missense_variant benign JHH2 Missense Mutation NENF chr1 212617723 212617723 A G g.212617723A>G ENST00000366988.3 c.281A>G p.Lys94Arg missense_variant benign JHH2 Missense Mutation NSL1 chr1 212911778 212911778 C T g.212911778C>T ENST00000366977.3 c.818G>A p.Arg273Gln missense_variant possibly damaging JHH2 Missense Mutation LDLRAD2 chr1 22141269 22141269 G T g.22141269G>T ENST00000344642.2 c.464G>T p.Arg155Leu missense_variant benign JHH2 Missense Mutation TLR5 chr1 223285304 223285304 T C g.223285304T>C ENST00000342210.6 c.1070A>G p.Tyr357Cys missense_variant possibly damaging JHH2 Missense Mutation ZBTB40 chr1 22828908 22828908 G A g.22828908G>A ENST00000375647.4 c.1141G>A p.Glu381Lys missense_variant possibly damaging JHH2 Missense Mutation OBSCN chr1 228456234 228456234 C T g.228456234C>T ENST00000284548.11 c.4865C>T p.Pro1622Leu missense_variant benign JHH2 Missense Mutation OBSCN chr1 228469708 228469708 G A g.228469708G>A ENST00000284548.11 c.8272G>A p.Val2758Ile missense_variant possibly damaging JHH2 Missense Mutation OBSCN chr1 228469825 228469825 C T g.228469825C>T ENST00000284548.11 c.8389C>T p.Arg2797Trp missense_variant probably damaging JHH2 Missense Mutation OBSCN chr1 228471240 228471240 T G g.228471240T>G ENST00000284548.11 c.8774T>G p.Leu2925Arg missense_variant probably damaging JHH2 Missense Mutation HEATR1 chr1 236748464 236748464 T C g.236748464T>C ENST00000366581.2 c.2102A>G p.Lys701Arg missense_variant benign JHH2 Missense Mutation EXO1 chr1 242048629 242048629 A G g.242048629A>G ENST00000348581.5 c.2225A>G p.Tyr742Cys missense_variant benign JHH2 Missense Mutation NUDC chr1 27268000 27268000 G A g.27268000G>A ENST00000321265.5 c.212G>A p.Arg71Gln missense_variant benign JHH2 Missense Mutation PTPRU chr1 29606134 29606134 A G g.29606134A>G ENST00000323874.8 c.1730A>G p.Gln577Arg missense_variant probably damaging JHH2 Missense Mutation CSMD2 chr1 33985195 33985195 C T g.33985195C>T ENST00000241312.4 c.10387G>A p.Asp3607Asn missense_variant,NMD_transcript_variant probably damaging JHH2 Missense Mutation CLSPN chr1 36217053 36217053 C T g.36217053C>T ENST00000251195.5 c.1826G>A p.Arg609Lys missense_variant probably damaging JHH2 Missense Mutation SZT2 chr1 43908242 43908242 C T g.43908242C>T ENST00000562955.1 c.7933C>T p.Leu2645Phe missense_variant probably damaging JHH2 Missense Mutation KLF17 chr1 44595763 44595763 A G g.44595763A>G ENST00000372299.3 c.820A>G p.Arg274Gly missense_variant benign JHH2 Missense Mutation PARS2 chr1 55224828 55224828 C A g.55224828C>A ENST00000371279.3 c.7G>T p.Gly3Trp missense_variant probably damaging JHH2 Missense Mutation TAS1R1 chr1 6638941 6638941 T C g.6638941T>C ENST00000333172.6 c.1823T>C p.Met608Thr missense_variant probably damaging JHH2 Missense Mutation CAMTA1 chr1 7798423 7798423 C T g.7798423C>T ENST00000303635.7 c.4063C>T p.Pro1355Ser missense_variant benign JHH2 Missense Mutation KIAA1107 chr1 92646670 92646670 G T g.92646670G>T ENST00000370378.4 c.2116G>T p.Asp706Tyr missense_variant possibly damaging JHH2 Missense Mutation EVI5 chr1 93159903 93159903 T C g.93159903T>C ENST00000370331.1 c.1084A>G p.Met362Val missense_variant benign JHH2 Missense Mutation ZDHHC6 chr10 114201973 114201973 T C g.114201973T>C ENST00000369405.3 c.496A>G p.Met166Val missense_variant possibly damaging JHH2 Missense Mutation TTC40 chr10 134664709 134664709 G A g.134664709G>A ENST00000368586.5 c.5675C>T p.Ala1892Val missense_variant possibly damaging JHH2 Missense Mutation KNDC1 chr10 135012687 135012687 C G g.135012687C>G ENST00000304613.3 c.2675C>G p.Ser892Trp missense_variant probably damaging JHH2 Missense Mutation SVIL chr10 29747415 29747415 T G g.29747415T>G ENST00000355867.4 c.6506A>C p.Glu2169Ala missense_variant possibly damaging JHH2 Missense Mutation SLC18A3 chr10 50820344 50820344 G A g.50820344G>A ENST00000374115.3 c.1558G>A p.Ala520Thr missense_variant benign JHH2 Missense Mutation PCDH15 chr10 55571372 55571372 G T g.55571372G>T ENST00000395438.1 c.4381C>A p.Pro1461Thr missense_variant benign JHH2 Missense Mutation CDH23 chr10 73574992 73574992 G A g.73574992G>A NM_022124.5 c.10022G>A p.Arg3341His missense_variant benign JHH2 Missense Mutation USP54 chr10 75276598 75276598 G A g.75276598G>A ENST00000339859.4 c.3586C>T p.Pro1196Ser missense_variant benign JHH2 Missense Mutation PDLIM1 chr10 97031468 97031468 T C g.97031468T>C ENST00000329399.6 c.170A>G p.Asn57Ser missense_variant benign JHH2 Missense Mutation ATM chr11 108141831 108141831 C G g.108141831C>G ENST00000278616.4 c.2879C>G p.Pro960Arg missense_variant possibly damaging JHH2 Missense Mutation SIK3 chr11 116734397 116734397 T C g.116734397T>C ENST00000292055.4 c.1772A>G p.Lys591Arg missense_variant benign JHH2 Missense Mutation TTC36 chr11 118399431 118399431 A G g.118399431A>G ENST00000302783.4 c.232A>G p.Ile78Val missense_variant possibly damaging JHH2 Missense Mutation C11orf63 chr11 122775908 122775908 G A g.122775908G>A ENST00000307257.6 c.893G>A p.Arg298His missense_variant damaging JHH2 Missense Mutation SPA17 chr11 124545309 124545309 G C g.124545309G>C ENST00000227135.2 c.149G>C p.Arg50Thr missense_variant probably damaging JHH2 Missense Mutation GLB1L2 chr11 134214322 134214322 T C g.134214322T>C ENST00000339772.7 c.326T>C p.Phe109Ser missense_variant probably damaging JHH2 Missense Mutation PIK3C2A chr11 17113555 17113555 C G g.17113555C>G ENST00000265970.7 c.4630G>C p.Ala1544Pro missense_variant benign JHH2 Missense Mutation INS-IGF2 chr11 2168855 2168855 C T g.2168855C>T ENST00000356578.4 c.590G>A p.Arg197His missense_variant,NMD_transcript_variant benign JHH2 Missense Mutation CHST1 chr11 45671710 45671710 C T g.45671710C>T ENST00000308064.2 c.764G>A p.Arg255Gln missense_variant probably damaging JHH2 Missense Mutation OR51G1 chr11 4944921 4944921 A G g.4944921A>G ENST00000321961.2 c.649T>C p.Phe217Leu missense_variant benign JHH2 Missense Mutation OR52H1 chr11 5565921 5565921 C T g.5565921C>T ENST00000322653.4 c.833G>A p.Arg278His missense_variant benign JHH2 Missense Mutation OR8H3 chr11 55890256 55890256 G A g.55890256G>A ENST00000313472.3 c.408G>A p.Met136Ile missense_variant possibly damaging JHH2 Missense Mutation CDC42BPG chr11 64594170 64594170 C T g.64594170C>T ENST00000342711.5 c.4486G>A p.Glu1496Lys missense_variant benign JHH2 Missense Mutation AIP chr11 67258415 67258415 A C g.67258415A>C ENST00000279146.3 c.944A>C p.Gln315Pro missense_variant possibly damaging JHH2 Missense Mutation LRP5 chr11 68174175 68174175 C T g.68174175C>T ENST00000294304.7 c.1985C>T p.Thr662Ile missense_variant possibly damaging JHH2 Missense Mutation TPCN2 chr11 68816536 68816536 C T g.68816536C>T ENST00000294309.3 c.71C>T p.Ala24Val missense_variant possibly damaging JHH2 Missense Mutation PDE2A chr11 72385236 72385236 C G g.72385236C>G ENST00000334456.5 c.16G>C p.Gly6Arg missense_variant probably damaging JHH2 Missense Mutation ARAP1 chr11 72422183 72422183 C T g.72422183C>T ENST00000359373.5 c.1096G>A p.Ala366Thr missense_variant benign JHH2 Missense Mutation EFCAB4A chr11 831705 831705 G A g.831705G>A ENST00000525077.1 c.1196G>A p.Arg399Gln missense_variant benign JHH2 Missense Mutation ZNF143 chr11 9546800 9546800 C G g.9546800C>G ENST00000396602.2 c.1700C>G p.Ala567Gly missense_variant probably damaging JHH2 Missense Mutation UTP20 chr12 101750765 101750765 C T g.101750765C>T ENST00000261637.4 c.5596C>T p.Arg1866Cys missense_variant probably damaging JHH2 Missense Mutation PXN chr12 120650365 120650365 C T g.120650365C>T ENST00000228307.7 c.1528G>A p.Val510Met missense_variant possibly damaging JHH2 Missense Mutation RIMBP2 chr12 130934799 130934799 T C g.130934799T>C ENST00000261655.4 c.476A>G p.Asn159Ser missense_variant benign JHH2 Missense Mutation GOLGA3 chr12 133351839 133351839 T C g.133351839T>C ENST00000204726.3 c.4031A>G p.Lys1344Arg missense_variant probably damaging JHH2 Missense Mutation ADAMTS20 chr12 43821125 43821125 C T g.43821125C>T ENST00000389420.3 c.4093G>A p.Gly1365Arg missense_variant probably damaging JHH2 Missense Mutation ASB8 chr12 48543467 48543467 T C g.48543467T>C ENST00000317697.3 c.549A>G p.Ile183Met missense_variant benign JHH2 Missense Mutation C1R chr12 7188337 7188337 C G g.7188337C>G ENST00000542285.1 c.1461G>C p.R487S missense_variant benign JHH2 Missense Mutation BRCA2 chr13 32937361 32937361 G T g.32937361G>T ENST00000380152.3 c.8022G>T p.Lys2674Asn missense_variant probably damaging JHH2 Missense Mutation FREM2 chr13 39343751 39343751 A G g.39343751A>G ENST00000280481.7 c.5447A>G p.Lys1816Arg missense_variant benign JHH2 Missense Mutation PROSER1 chr13 39587123 39587123 G T g.39587123G>T ENST00000352251.3 c.2266C>A p.Pro756Thr missense_variant benign JHH2 Missense Mutation MYCBP2 chr13 77651504 77651504 G T g.77651504G>T ENST00000407578.2 c.11503C>A p.His3797Asn missense_variant possibly damaging JHH2 Missense Mutation DZIP1 chr13 96239873 96239873 C G g.96239873C>G ENST00000347108.3 c.2138G>C p.Gly713Ala missense_variant benign JHH2 Missense Mutation OXGR1 chr13 97639183 97639183 C A g.97639183C>A ENST00000298440.1 c.831G>T p.Glu277Asp missense_variant benign JHH2 Missense Mutation PPP1R13B chr14 104208267 104208267 C G g.104208267C>G ENST00000202556.9 c.1682G>C p.Gly561Ala missense_variant possibly damaging JHH2 Missense Mutation PARP2 chr14 20823018 20823018 A G g.20823018A>G ENST00000250416.5 c.853A>G p.Ile285Val missense_variant benign JHH2 Missense Mutation OR6J1 chr14 23102770 23102770 C A g.23102770C>A ENST00000540461.1 c.947G>T p.R316M missense_variant NA JHH2 Missense Mutation CCDC175 chr14 59998537 59998537 T C g.59998537T>C ENST00000281581.4 c.1715A>G p.Tyr572Cys missense_variant damaging JHH2 Missense Mutation STON2 chr14 81744673 81744673 T C g.81744673T>C ENST00000267540.2 c.982A>G p.Ile328Val missense_variant probably damaging JHH2 Missense Mutation CCDC88C chr14 91780412 91780412 G A g.91780412G>A ENST00000389857.6 c.1748C>T p.Ala583Val missense_variant benign JHH2 Missense Mutation TRIP11 chr14 92471457 92471457 T C g.92471457T>C ENST00000267622.4 c.2863A>G p.Thr955Ala missense_variant benign JHH2 Missense Mutation GCHFR chr15 41058056 41058056 A G g.41058056A>G ENST00000260447.4 c.68A>G p.Gln23Arg missense_variant benign JHH2 Missense Mutation CAPN3 chr15 42686500 42686500 C T g.42686500C>T ENST00000318023.7 c.1076C>T p.Pro359Leu missense_variant probably damaging JHH2 Missense Mutation HDC chr15 50546780 50546780 C T g.50546780C>T ENST00000267845.3 c.523G>A p.Asp175Asn missense_variant benign JHH2 Missense Mutation PIF1 chr15 65108537 65108537 T G g.65108537T>G ENST00000268043.4 c.1886A>C p.Glu629Ala missense_variant benign JHH2 Missense Mutation RASGRF1 chr15 79292172 79292172 C T g.79292172C>T ENST00000419573.3 c.2707G>A p.Ala903Thr missense_variant benign JHH2 Missense Mutation AP3B2 chr15 83328607 83328607 C T g.83328607C>T ENST00000261722.3 c.3088G>A p.Asp1030Asn missense_variant benign JHH2 Missense Mutation MFGE8 chr15 89449879 89449879 T C g.89449879T>C ENST00000268150.8 c.518A>G p.His173Arg missense_variant benign JHH2 Missense Mutation ABCC6 chr16 16315616 16315616 C A g.16315616C>A ENST00000205557.7 c.109G>T p.Val37Phe missense_variant possibly damaging JHH2 Missense Mutation DNAH3 chr16 20966299 20966299 G T g.20966299G>T ENST00000261383.3 c.10907C>A p.Pro3636His missense_variant probably damaging JHH2 Missense Mutation CASKIN1 chr16 2231358 2231358 C T g.2231358C>T ENST00000343516.6 c.2011G>A p.Val671Met missense_variant possibly damaging JHH2 Missense Mutation BRICD5 chr16 2260251 2260251 G A g.2260251G>A ENST00000328540.3 c.212C>T p.Pro71Leu missense_variant benign JHH2 Missense Mutation KREMEN2 chr16 3014929 3014929 G A g.3014929G>A ENST00000303746.5 c.164G>A p.Gly55Glu missense_variant probably damaging JHH2 Missense Mutation SRCAP chr16 30735082 30735082 C T g.30735082C>T ENST00000262518.4 c.4337C>T p.Thr1446Ile missense_variant possibly damaging JHH2 Missense Mutation SETD1A chr16 30977559 30977559 C T g.30977559C>T ENST00000262519.8 c.2357C>T p.Pro786Leu missense_variant probably damaging JHH2 Missense Mutation RAB11FIP3 chr16 538925 538925 G A g.538925G>A ENST00000262305.4 c.1190G>A p.Ser397Asn missense_variant benign JHH2 Missense Mutation CDH5 chr16 66429973 66429973 G A g.66429973G>A ENST00000341529.3 c.1229G>A p.Arg410His missense_variant probably damaging JHH2 Missense Mutation WWP2 chr16 69922093 69922093 C G g.69922093C>G ENST00000356003.2 c.855C>G p.Ser285Arg missense_variant benign JHH2 Missense Mutation HYDIN chr16 70841932 70841932 T C g.70841932T>C ENST00000393567.2 c.14917A>G p.Ile4973Val missense_variant benign JHH2 Missense Mutation ADAT1 chr16 75646568 75646568 T C g.75646568T>C ENST00000307921.3 c.616A>G p.Arg206Gly missense_variant benign JHH2 Missense Mutation MYH8 chr17 10297597 10297597 G C g.10297597G>C ENST00000403437.2 c.5135C>G p.Ala1712Gly missense_variant possibly damaging JHH2 Missense Mutation ZNF286A chr17 15619469 15619469 G A g.15619469G>A ENST00000413242.2 c.431G>A p.Arg144Gln missense_variant,NMD_transcript_variant benign JHH2 Missense Mutation SUPT6H chr17 27010665 27010665 A G g.27010665A>G ENST00000314616.6 c.2060A>G p.Glu687Gly missense_variant possibly damaging JHH2 Missense Mutation GGNBP2 chr17 34913041 34913041 G A g.34913041G>A ENST00000304718.4 c.293G>A p.Arg98His missense_variant possibly damaging JHH2 Missense Mutation KRT35 chr17 39633834 39633834 C T g.39633834C>T ENST00000393989.1 c.1156G>A p.Val386Ile missense_variant possibly damaging JHH2 Missense Mutation ZNF385C chr17 40183754 40183754 T C g.40183754T>C NM_001242704.1 c.322A>G p.Lys187Glu missense_variant benign JHH2 Missense Mutation SP2 chr17 45994385 45994385 C G g.45994385C>G ENST00000376741.4 c.948C>G p.Ile316Met missense_variant probably damaging JHH2 Missense Mutation MARCH10 chr17 60865894 60865894 G T g.60865894G>T ENST00000311269.5 c.157C>A p.Gln53Lys missense_variant benign JHH2 Missense Mutation AMZ2 chr17 66251886 66251886 C G g.66251886C>G ENST00000359904.3 c.796C>G p.Gln266Glu missense_variant benign JHH2 Missense Mutation FAM104A chr17 71228324 71228324 C A g.71228324C>A ENST00000403627.3 c.122G>T p.Gly41Val missense_variant probably damaging JHH2 Missense Mutation TTYH2 chr17 72233538 72233538 A G g.72233538A>G ENST00000269346.4 c.520A>G p.Ile174Val missense_variant benign JHH2 Missense Mutation WBP2 chr17 73847689 73847689 T C g.73847689T>C ENST00000254806.3 c.128A>G p.Lys43Arg missense_variant benign JHH2 Missense Mutation ATP1B2 chr17 7558869 7558869 G A g.7558869G>A ENST00000250111.4 c.634G>A p.Gly212Ser missense_variant probably damaging JHH2 Missense Mutation PGS1 chr17 76395518 76395518 C T g.76395518C>T ENST00000262764.6 c.601C>T p.Arg201Cys missense_variant probably damaging JHH2 Missense Mutation SIRT7 chr17 79872382 79872382 T C g.79872382T>C ENST00000328666.6 c.604A>G p.Arg202Gly missense_variant benign JHH2 Missense Mutation LAMA3 chr18 21478772 21478772 T C g.21478772T>C ENST00000313654.9 c.5684T>C p.Leu1895Pro missense_variant probably damaging JHH2 Missense Mutation HRH4 chr18 22057404 22057404 T G g.22057404T>G ENST00000256906.4 c.1051T>G p.Ser351Ala missense_variant probably damaging JHH2 Missense Mutation AQP4 chr18 24442243 24442243 A G g.24442243A>G ENST00000383168.4 c.350T>C p.Phe117Ser missense_variant probably damaging JHH2 Missense Mutation POLI chr18 51807112 51807112 T C g.51807112T>C ENST00000579534.1 c.635T>C p.Met212Thr missense_variant possibly damaging JHH2 Missense Mutation MC4R chr18 58039100 58039100 C T g.58039100C>T ENST00000299766.3 c.483G>A p.Met161Ile missense_variant benign JHH2 Missense Mutation VPS4B chr18 61060766 61060766 C T g.61060766C>T ENST00000238497.5 c.1109G>A p.Arg370Gln missense_variant possibly damaging JHH2 Missense Mutation ILF3 chr19 10799972 10799972 A G g.10799972A>G ENST00000318511.3 c.2669A>G p.Asn890Ser missense_variant benign JHH2 Missense Mutation HOOK2 chr19 12881855 12881855 G A g.12881855G>A ENST00000264827.5 c.793C>T p.Arg265Cys missense_variant probably damaging JHH2 Missense Mutation IL27RA chr19 14159855 14159855 G A g.14159855G>A ENST00000263379.2 c.1204G>A p.Ala402Thr missense_variant probably damaging JHH2 Missense Mutation EMR3 chr19 14765796 14765796 A T g.14765796A>T ENST00000253673.5 c.575T>A p.Val192Glu (Splice) missense_variant,splice_region_variant benign JHH2 Missense Mutation OR1I1 chr19 15198330 15198330 A G g.15198330A>G ENST00000209540.2 c.454A>G p.Thr152Ala missense_variant probably damaging JHH2 Missense Mutation ZNF90 chr19 20229559 20229559 G A g.20229559G>A ENST00000418063.2 c.1196G>A p.Cys399Tyr missense_variant probably damaging JHH2 Missense Mutation NUDT19 chr19 33183521 33183521 T C g.33183521T>C ENST00000397061.3 c.655T>C p.Cys219Arg missense_variant probably damaging JHH2 Missense Mutation SYNE4 chr19 36496279 36496279 G A g.36496279G>A ENST00000324444.3 c.928C>T p.Arg310Cys missense_variant benign JHH2 Missense Mutation ZNF781 chr19 38160526 38160526 A G g.38160526A>G ENST00000358582.4 c.524T>C p.Val175Ala missense_variant benign JHH2 Missense Mutation SUPT5H chr19 39963867 39963867 G T g.39963867G>T ENST00000432763.2 c.2283G>T p.Met761Ile missense_variant benign JHH2 Missense Mutation CEACAM3 chr19 42300656 42300656 A G g.42300656A>G ENST00000221999.4 c.47A>G p.Gln16Arg missense_variant possibly damaging JHH2 Missense Mutation MEGF8 chr19 42880103 42880103 C T g.42880103C>T ENST00000334370.4 c.7513C>T p.Arg2505Trp missense_variant probably damaging JHH2 Missense Mutation IRGC chr19 44222859 44222859 C A g.44222859C>A ENST00000244314.5 c.149C>A p.Thr50Lys missense_variant benign JHH2 Missense Mutation ZNF225 chr19 44636419 44636419 G C g.44636419G>C ENST00000262894.6 c.1652G>C p.Ser551Thr missense_variant benign JHH2 Missense Mutation PLIN4 chr19 4513473 4513473 C T g.4513473C>T ENST00000301286.3 c.457G>A p.Gly153Ser missense_variant possibly damaging JHH2 Missense Mutation CEACAM16 chr19 45211237 45211237 G A g.45211237G>A ENST00000405314.2 c.1045G>A p.Ala349Thr missense_variant probably damaging JHH2 Missense Mutation ARHGAP35 chr19 47425545 47425545 A G g.47425545A>G ENST00000404338.3 c.3613A>G p.Ile1205Val missense_variant benign JHH2 Missense Mutation KLK9 chr19 51506426 51506426 C T g.51506426C>T ENST00000250366.6 c.694G>A p.Ala232Thr missense_variant,NMD_transcript_variant benign JHH2 Missense Mutation ZNF175 chr19 52084729 52084729 G A g.52084729G>A ENST00000262259.2 c.158G>A p.Arg53Gln missense_variant benign JHH2 Missense Mutation ZNF816 chr19 53456082 53456082 A G g.53456082A>G ENST00000270457.4 c.112T>C p.Trp38Arg missense_variant probably damaging JHH2 Missense Mutation PTPRH chr19 55708650 55708650 G A g.55708650G>A ENST00000376350.3 c.1825C>T p.Arg609Trp missense_variant probably damaging JHH2 Missense Mutation ZNF211 chr19 58144755 58144755 A G g.58144755A>G ENST00000240731.4 c.41A>G p.Gln14Arg missense_variant benign JHH2 Missense Mutation ZNF135 chr19 58578796 58578796 A G g.58578796A>G ENST00000313434.5 c.944A>G p.Gln315Arg missense_variant benign JHH2 Missense Mutation ZSCAN18 chr19 58600145 58600145 T C g.58600145T>C ENST00000240727.6 c.463A>G p.Arg155Gly missense_variant possibly damaging JHH2 Missense Mutation CLEC4M chr19 7828326 7828326 C G g.7828326C>G ENST00000248228.4 c.94C>G p.Gln32Glu missense_variant benign JHH2 Missense Mutation MED16 chr19 890167 890167 C T g.890167C>T ENST00000269814.4 c.247G>A p.Ala83Thr missense_variant possibly damaging JHH2 Missense Mutation MUC16 chr19 9072783 9072783 T A g.9072783T>A ENST00000397910.4 c.14663A>T p.Glu4888Val missense_variant probably damaging JHH2 Missense Mutation ZNF317 chr19 9269508 9269508 A G g.9269508A>G ENST00000247956.6 c.392A>G p.Glu131Gly missense_variant benign JHH2 Missense Mutation ARID3A chr19 929637 929637 G A g.929637G>A ENST00000263620.3 c.109G>A p.Gly37Ser missense_variant benign JHH2 Missense Mutation PDCL3 chr2 101192914 101192914 C T g.101192914C>T ENST00000264254.6 c.676C>T p.Arg226Cys missense_variant benign JHH2 Missense Mutation IL1R2 chr2 102625062 102625062 A G g.102625062A>G ENST00000332549.3 c.25A>G p.Met9Val missense_variant benign JHH2 Missense Mutation LPIN1 chr2 11922543 11922543 C G g.11922543C>G ENST00000256720.2 c.1066C>G p.Pro356Ala missense_variant possibly damaging JHH2 Missense Mutation MARCH7 chr2 160599680 160599680 G T g.160599680G>T ENST00000259050.4 c.262G>T p.Asp88Tyr missense_variant probably damaging JHH2 Missense Mutation TTN chr2 179479255 179479255 T C g.179479255T>C ENST00000591111.1 c.44063A>G p.Tyr14688Cys missense_variant probably damaging JHH2 Missense Mutation LOC100130451 chr2 214142564 214142564 T G g.214142564T>G NM_001242575.1 c.312A>C p.Gln104His missense_variant NA JHH2 Missense Mutation RNF25 chr2 219528775 219528775 C T g.219528775C>T ENST00000295704.2 c.1285G>A p.Gly429Ser missense_variant possibly damaging JHH2 Missense Mutation SLC23A3 chr2 220026668 220026668 G C g.220026668G>C ENST00000409878.3 c.1796C>G p.Pro599Arg missense_variant possibly damaging JHH2 Missense Mutation MFF chr2 228221829 228221829 G A g.228221829G>A ENST00000353339.3 c.1025G>A p.Arg342His missense_variant probably damaging JHH2 Missense Mutation B3GNT7 chr2 232262648 232262648 C T g.232262648C>T ENST00000287590.5 c.218C>T p.Pro73Leu missense_variant benign JHH2 Missense Mutation GPR35 chr2 241569953 241569953 T C g.241569953T>C ENST00000319838.5 c.584T>C p.Val195Ala missense_variant probably damaging JHH2 Missense Mutation EMILIN1 chr2 27306780 27306780 G A g.27306780G>A ENST00000380320.4 c.2341G>A p.Gly781Arg missense_variant benign JHH2 Missense Mutation IFT172 chr2 27667313 27667313 A G g.27667313A>G ENST00000260570.3 c.5236T>C p.Phe1746Leu missense_variant possibly damaging JHH2 Missense Mutation SLC4A1AP chr2 27887158 27887158 C T g.27887158C>T ENST00000326019.6 c.539C>T p.Thr180Ile missense_variant possibly damaging JHH2 Missense Mutation VRK2 chr2 58373581 58373581 T C g.58373581T>C ENST00000340157.4 c.1154T>C p.Ile385Thr missense_variant benign JHH2 Missense Mutation XPO1 chr2 61710169 61710169 T C g.61710169T>C ENST00000401558.2 c.2735A>G p.Gln912Arg missense_variant probably damaging JHH2 Missense Mutation CCT7 chr2 73476257 73476257 A G g.73476257A>G ENST00000258091.5 c.922A>G p.Met308Val missense_variant benign JHH2 Missense Mutation USP39 chr2 85868168 85868168 T G g.85868168T>G ENST00000323701.6 c.1354T>G p.Phe452Val missense_variant benign JHH2 Missense Mutation TAF1B chr2 9994486 9994486 A G g.9994486A>G ENST00000263663.5 c.335A>G p.Tyr112Cys missense_variant probably damaging JHH2 Missense Mutation XKR7 chr20 30585085 30585085 T C g.30585085T>C ENST00000562532.2 c.1565T>C p.Val522Ala missense_variant probably damaging JHH2 Missense Mutation NECAB3 chr20 32247727 32247727 G A g.32247727G>A ENST00000246190.6 c.607C>T p.Arg203Trp missense_variant benign JHH2 Missense Mutation CPNE1 chr20 34220145 34220145 C G g.34220145C>G ENST00000317619.3 c.396G>C p.Gln132His missense_variant benign JHH2 Missense Mutation RBM12 chr20 34241380 34241380 T C g.34241380T>C ENST00000359646.1 c.1865A>G p.Glu622Gly missense_variant probably damaging JHH2 Missense Mutation BPI chr20 36939024 36939024 T A g.36939024T>A ENST00000262865.4 c.518T>A p.Val173Asp missense_variant probably damaging JHH2 Missense Mutation CENPB chr20 3766620 3766620 C T g.3766620C>T ENST00000379751.4 c.511G>A p.Gly171Ser missense_variant benign JHH2 Missense Mutation MAVS chr20 3845167 3845167 A T g.3845167A>T ENST00000428216.2 c.890A>T p.Lys297Ile missense_variant probably damaging JHH2 Missense Mutation OGFR chr20 61442883 61442883 G A g.61442883G>A ENST00000290291.6 c.535G>A p.Gly179Arg missense_variant probably damaging JHH2 Missense Mutation OGFR chr20 61442889 61442889 C T g.61442889C>T ENST00000290291.6 c.541C>T p.Arg181Trp missense_variant probably damaging JHH2 Missense Mutation CCT8 chr21 30441810 30441810 C T g.30441810C>T ENST00000286788.4 c.165G>A p.Met55Ile missense_variant probably damaging JHH2 Missense Mutation TRPM2 chr21 45846967 45846967 C T g.45846967C>T ENST00000300482.5 c.3947C>T p.Pro1316Leu missense_variant benign JHH2 Missense Mutation PTTG1IP chr21 46281171 46281171 T C g.46281171T>C ENST00000330938.3 c.184A>G p.Thr62Ala missense_variant benign JHH2 Missense Mutation DGCR2 chr22 19029428 19029428 C T g.19029428C>T ENST00000263196.7 c.1051G>A p.Val351Ile missense_variant benign JHH2 Missense Mutation ZNF74 chr22 20761028 20761028 T C g.20761028T>C ENST00000356671.5 c.1705T>C p.Ser569Pro missense_variant possibly damaging JHH2 Missense Mutation RGL4 chr22 24035099 24035099 A G g.24035099A>G ENST00000290691.5 c.617A>G p.Asn206Ser missense_variant benign JHH2 Missense Mutation SLC5A1 chr22 32439365 32439365 G A g.32439365G>A ENST00000266088.4 c.97G>A p.Val33Ile missense_variant benign JHH2 Missense Mutation TOM1 chr22 35743083 35743083 G A g.35743083G>A ENST00000449058.2 c.1360G>A p.Ala454Thr missense_variant probably damaging JHH2 Missense Mutation IL2RB chr22 37524600 37524600 C T g.37524600C>T ENST00000216223.5 c.1192G>A p.Gly398Arg missense_variant benign JHH2 Missense Mutation TRIOBP chr22 38131004 38131004 G A g.38131004G>A ENST00000406386.3 c.4661G>A p.Arg1554Gln missense_variant benign JHH2 Missense Mutation DDX17 chr22 38902119 38902119 C T g.38902119C>T ENST00000396821.3 c.124G>A p.A42T missense_variant benign JHH2 Missense Mutation CEP97 chr3 101484351 101484351 T C g.101484351T>C ENST00000341893.3 c.2554T>C p.Cys852Arg missense_variant benign JHH2 Missense Mutation SIDT1 chr3 113323798 113323798 T A g.113323798T>A ENST00000264852.4 c.1379T>A p.Ile460Asn missense_variant possibly damaging JHH2 Missense Mutation PIK3R4 chr3 130452424 130452424 T A g.130452424T>A ENST00000356763.3 c.1418A>T p.Asp473Val missense_variant probably damaging JHH2 Missense Mutation PPP2R3A chr3 135825098 135825098 G A g.135825098G>A ENST00000264977.3 c.3263G>A p.Arg1088Gln missense_variant probably damaging JHH2 Missense Mutation TRIM42 chr3 140407002 140407002 G C g.140407002G>C ENST00000286349.3 c.1478G>C p.Gly493Ala missense_variant possibly damaging JHH2 Missense Mutation PLS1 chr3 142396905 142396905 A G g.142396905A>G ENST00000337777.3 c.529A>G p.Ile177Val missense_variant benign JHH2 Missense Mutation NLGN1 chr3 173997290 173997290 G T g.173997290G>T ENST00000361589.4 c.1499G>T p.Trp500Leu missense_variant probably damaging JHH2 Missense Mutation MUC4 chr3 195518055 195518055 C T g.195518055C>T ENST00000462323.1 c.396G>A p.Met132Ile missense_variant,NMD_transcript_variant benign JHH2 Missense Mutation GADL1 chr3 30875733 30875733 C T g.30875733C>T ENST00000282538.5 c.944G>A p.Arg315His missense_variant probably damaging JHH2 Missense Mutation XIRP1 chr3 39230110 39230110 C T g.39230110C>T ENST00000340369.3 c.827G>A p.Arg276Gln missense_variant benign JHH2 Missense Mutation KIF15 chr3 44846522 44846522 A G g.44846522A>G ENST00000326047.4 c.1691A>G p.Gln564Arg missense_variant benign JHH2 Missense Mutation BSN chr3 49700353 49700353 C T g.49700353C>T ENST00000296452.4 c.10762C>T p.Arg3588Trp missense_variant probably damaging JHH2 Missense Mutation TMF1 chr3 69097546 69097546 T C g.69097546T>C ENST00000398559.2 c.310A>G p.Thr104Ala missense_variant benign JHH2 Missense Mutation DDIT4L chr4 101109088 101109088 C T g.101109088C>T ENST00000273990.2 c.328G>A p.Val110Met missense_variant probably damaging JHH2 Missense Mutation FGFRL1 chr4 1018969 1018969 A G g.1018969A>G ENST00000264748.6 c.1349A>G p.His450Arg missense_variant benign JHH2 Missense Mutation RNF212 chr4 1075370 1075370 T G g.1075370T>G ENST00000382968.5 c.400A>C p.Lys134Gln missense_variant probably damaging JHH2 Missense Mutation SEC24B chr4 110394259 110394259 C T g.110394259C>T ENST00000265175.5 c.977C>T p.Ser326Leu missense_variant probably damaging JHH2 Missense Mutation ANK2 chr4 114290707 114290707 A G g.114290707A>G ENST00000357077.4 c.11356A>G p.Lys3786Glu missense_variant possibly damaging JHH2 Missense Mutation TNIP3 chr4 122082303 122082303 T A g.122082303T>A ENST00000509841.1 c.366A>T p.Lys122Asn missense_variant probably damaging JHH2 Missense Mutation FAT4 chr4 126242209 126242209 C A g.126242209C>A ENST00000394329.3 c.4643C>A p.Thr1548Lys missense_variant probably damaging JHH2 Missense Mutation SCLT1 chr4 130003522 130003522 C T g.130003522C>T ENST00000281142.5 c.41G>A p.Arg14Lys missense_variant benign JHH2 Missense Mutation PROM1 chr4 15995639 15995639 T G g.15995639T>G ENST00000447510.2 c.1738A>C p.Asn580His missense_variant possibly damaging JHH2 Missense Mutation VEGFC chr4 177608624 177608624 C T g.177608624C>T ENST00000280193.2 c.862G>A p.E288K missense_variant probably damaging JHH2 Missense Mutation CENPU chr4 185655200 185655200 C G g.185655200C>G ENST00000281453.5 c.17G>C p.Arg6Pro missense_variant benign JHH2 Missense Mutation SLIT2 chr4 20530587 20530587 G A g.20530587G>A ENST00000504154.1 c.1478G>A p.Arg493Gln missense_variant probably damaging JHH2 Missense Mutation WDR19 chr4 39229947 39229947 A G g.39229947A>G ENST00000399820.3 c.1747A>G p.Thr583Ala missense_variant probably damaging JHH2 Missense Mutation C4orf50 chr4 5961298 5961298 G A g.5961298G>A ENST00000531445.1 c.2057C>T p.Thr212Ile missense_variant possibly damaging JHH2 Missense Mutation ANKRD17 chr4 73962883 73962883 G A g.73962883G>A ENST00000358602.4 c.5128C>T p.Pro1710Ser missense_variant probably damaging JHH2 Missense Mutation SORCS2 chr4 7728565 7728565 G A g.7728565G>A ENST00000507866.2 c.2804G>A p.Arg935His missense_variant probably damaging JHH2 Missense Mutation PRDM8 chr4 81123331 81123331 C A g.81123331C>A ENST00000339711.4 c.715C>A p.Pro239Thr missense_variant benign JHH2 Missense Mutation HERC6 chr4 89319302 89319302 G A g.89319302G>A ENST00000264346.7 c.1033G>A p.Asp345Asn missense_variant benign JHH2 Missense Mutation CTNNA1 chr5 138266572 138266572 T G g.138266572T>G ENST00000302763.7 c.2246T>G p.Ile749Ser missense_variant probably damaging JHH2 Missense Mutation PCDHB1 chr5 140432646 140432646 G C g.140432646G>C ENST00000306549.3 c.1591G>C p.Val531Leu missense_variant benign JHH2 Missense Mutation FER1L5 chr2 97368918 97368918 G A g.97368918G>A NM_001113382.1 c.5634G>A p.Met1878Ile missense_variant probably damaging JHH2 Missense Mutation PCDHGA5 chr5 140744997 140744997 C T g.140744997C>T ENST00000518069.1 c.1100C>T p.Ala367Val missense_variant benign JHH2 Missense Mutation TRIO chr5 14399163 14399163 A G g.14399163A>G ENST00000344204.4 c.4598A>G p.Tyr1533Cys missense_variant probably damaging JHH2 Missense Mutation FNDC9 chr5 156769915 156769915 C G g.156769915C>G ENST00000312349.4 c.630G>C p.Arg210Ser missense_variant benign JHH2 Missense Mutation CYFIP2 chr5 156816423 156816423 A T g.156816423A>T ENST00000521420.1 c.3356A>T p.E1119V missense_variant probably damaging JHH2 Missense Mutation CENPH chr5 68504097 68504097 A G g.68504097A>G ENST00000283006.2 c.562A>G p.Ser188Gly missense_variant benign JHH2 Missense Mutation ARRDC3 chr5 90678686 90678686 T G g.90678686T>G ENST00000265138.3 c.224A>C p.Tyr75Ser missense_variant probably damaging JHH2 Missense Mutation CAST chr5 96100944 96100944 A G g.96100944A>G ENST00000341926.3 c.1703A>G p.Asp568Gly missense_variant benign JHH2 Missense Mutation SYCP2L chr6 10912964 10912964 G A g.10912964G>A ENST00000283141.6 c.977G>A p.Ser326Asn missense_variant probably damaging JHH2 Missense Mutation ROS1 chr6 117658406 117658406 T C g.117658406T>C ENST00000368508.3 c.5177A>G p.Asn1726Ser missense_variant benign JHH2 Missense Mutation DCBLD1 chr6 117860499 117860499 C A g.117860499C>A ENST00000296955.8 c.1058C>A p.Ser353Tyr missense_variant probably damaging JHH2 Missense Mutation ZDHHC14 chr6 158093792 158093792 G A g.158093792G>A ENST00000359775.5 c.1105G>A p.Val369Ile missense_variant probably damaging JHH2 Missense Mutation SYNJ2 chr6 158502193 158502193 C T g.158502193C>T ENST00000355585.4 c.2620C>T p.Arg874Trp missense_variant probably damaging JHH2 Missense Mutation PARK2 chr6 162683679 162683679 C T g.162683679C>T ENST00000366892.1 c.290G>A p.Arg97Gln missense_variant benign JHH2 Missense Mutation OR2B2 chr6 27879290 27879290 G C g.27879290G>C ENST00000303324.2 c.808C>G p.Arg270Gly missense_variant possibly damaging JHH2 Missense Mutation DNAH8 chr6 38783389 38783389 A G g.38783389A>G ENST00000359357.3 c.2828A>G p.D943G missense_variant benign JHH2 Missense Mutation XPO5 chr6 43534965 43534965 T G g.43534965T>G ENST00000265351.7 c.775A>C p.Asn259His missense_variant possibly damaging JHH2 Missense Mutation TNFRSF21 chr6 47254252 47254252 C T g.47254252C>T ENST00000296861.2 c.176G>A p.Arg59His missense_variant possibly damaging JHH2 Missense Mutation DST chr6 56483740 56483740 C T g.56483740C>T ENST00000370765.6 c.5092G>A p.Gly1698Arg missense_variant benign JHH2 Missense Mutation FAM46A chr6 82461632 82461632 C T g.82461632C>T ENST00000320172.6 c.227G>A p.Gly76Asp missense_variant benign JHH2 Missense Mutation NYAP1 chr7 100088698 100088698 C T g.100088698C>T ENST00000300179.2 c.2248C>T p.Pro750Ser missense_variant possibly damaging JHH2 Missense Mutation ATXN7L1 chr7 105264571 105264571 G T g.105264571G>T ENST00000419735.3 c.1346C>A p.Ser449Tyr missense_variant possibly damaging JHH2 Missense Mutation SLC26A3 chr7 107414571 107414571 T C g.107414571T>C ENST00000340010.5 c.1801A>G p.Ile601Val missense_variant benign JHH2 Missense Mutation NRCAM chr7 107836313 107836313 T C g.107836313T>C ENST00000379022.4 c.1355A>G p.Glu452Gly missense_variant possibly damaging JHH2 Missense Mutation SMO chr7 128850877 128850877 A T g.128850877A>T ENST00000249373.3 c.1724A>T p.Lys575Met missense_variant benign JHH2 Missense Mutation LRGUK chr7 133932320 133932320 A G g.133932320A>G ENST00000285928.2 c.1996A>G p.Ile666Val missense_variant benign JHH2 Missense Mutation KEL chr7 142651320 142651320 C T g.142651320C>T ENST00000355265.2 c.875G>A p.Arg292Gln missense_variant possibly damaging JHH2 Missense Mutation ASIC3 chr7 150749290 150749290 G A g.150749290G>A ENST00000297512.8 c.1424G>A p.Arg475Gln missense_variant possibly damaging JHH2 Missense Mutation DNAH11 chr7 21698468 21698468 A G g.21698468A>G ENST00000409508.3 c.5147A>G p.His1716Arg missense_variant benign JHH2 Missense Mutation HOXA9 chr7 27204784 27204784 A T g.27204784A>T ENST00000343483.6 c.293T>A p.Val98Glu missense_variant benign JHH2 Missense Mutation NOD1 chr7 30491003 30491003 G A g.30491003G>A ENST00000222823.4 c.2030C>T p.Ala677Val missense_variant probably damaging JHH2 Missense Mutation ADCYAP1R1 chr7 31124972 31124972 C T g.31124972C>T ENST00000304166.4 c.584C>T p.Ser195Leu missense_variant probably damaging JHH2 Missense Mutation PDE1C chr7 31815290 31815290 G A g.31815290G>A ENST00000321453.7 c.1948C>T p.Leu650Phe missense_variant benign JHH2 Missense Mutation AEBP1 chr7 44150755 44150755 G A g.44150755G>A ENST00000223357.3 c.1633G>A p.Val545Ile (Splice) missense_variant,splice_region_variant benign JHH2 Missense Mutation GCK chr7 44191907 44191907 G T g.44191907G>T ENST00000403799.3 c.326C>A p.Ser109Tyr missense_variant possibly damaging JHH2 Missense Mutation PHKG1 chr7 56149726 56149726 C T g.56149726C>T ENST00000297373.2 c.652G>A p.Val218Ile missense_variant probably damaging JHH2 Missense Mutation ZNF727 chr7 63537882 63537882 A T g.63537882A>T ENST00000550760.3 c.455A>T p.Lys152Ile missense_variant benign JHH2 Missense Mutation TPST1 chr7 65705963 65705963 G T g.65705963G>T ENST00000304842.5 c.551G>T p.Arg184Leu missense_variant probably damaging JHH2 Missense Mutation FZD9 chr7 72849710 72849710 C T g.72849710C>T ENST00000344575.3 c.1373C>T p.Pro458Leu missense_variant probably damaging JHH2 Missense Mutation TMEM60 chr7 77423311 77423311 T A g.77423311T>A ENST00000257663.3 c.380A>T p.Asn127Ile missense_variant probably damaging JHH2 Missense Mutation HEATR2 chr7 813764 813764 G A g.813764G>A ENST00000297440.6 c.2011G>A p.Ala671Thr missense_variant probably damaging JHH2 Missense Mutation AKAP9 chr7 91622317 91622317 A T g.91622317A>T ENST00000358100.2 c.560A>T p.Asn187Ile missense_variant possibly damaging JHH2 Missense Mutation CALCR chr7 93101700 93101700 G C g.93101700G>C ENST00000360249.4 c.416C>G p.Pro139Arg missense_variant benign JHH2 Missense Mutation ZFPM2 chr8 106573618 106573618 G A g.106573618G>A ENST00000407775.2 c.329G>A p.Gly110Glu missense_variant possibly damaging JHH2 Missense Mutation C8orf76 chr8 124251323 124251323 T C g.124251323T>C ENST00000276704.4 c.179A>G p.Lys60Arg missense_variant benign JHH2 Missense Mutation ZNF572 chr8 125989483 125989483 G A g.125989483G>A ENST00000319286.5 c.973G>A p.Glu325Lys missense_variant probably damaging JHH2 Missense Mutation NSMCE2 chr8 126163472 126163472 C T g.126163472C>T ENST00000287437.3 c.217C>T p.Arg73Trp missense_variant probably damaging JHH2 Missense Mutation TSNARE1 chr8 143381911 143381911 G A g.143381911G>A ENST00000307180.3 c.1226C>T p.Pro409Leu missense_variant probably damaging JHH2 Missense Mutation PSCA chr8 143763392 143763392 G A g.143763392G>A ENST00000301258.4 c.187G>A p.Asp63Asn missense_variant possibly damaging JHH2 Missense Mutation SPATC1 chr8 145101553 145101553 A G g.145101553A>G ENST00000377470.3 c.1472A>G p.Lys491Arg missense_variant possibly damaging JHH2 Missense Mutation ADAM28 chr8 24170983 24170983 T C g.24170983T>C ENST00000265769.4 c.466T>C p.Phe156Leu missense_variant probably damaging JHH2 Missense Mutation WRN chr8 30949375 30949375 G T g.30949375G>T ENST00000298139.5 c.1859G>T p.Gly620Val missense_variant probably damaging JHH2 Missense Mutation UNC5D chr8 35647959 35647959 G C g.35647959G>C ENST00000404895.2 c.2740G>C p.Asp914His missense_variant probably damaging JHH2 Missense Mutation RAB11FIP1 chr8 37730222 37730222 C G g.37730222C>G ENST00000330843.4 c.2098G>C p.Gly700Arg missense_variant benign JHH2 Missense Mutation ADRB3 chr8 37823194 37823194 G C g.37823194G>C ENST00000345060.3 c.794C>G p.Thr265Arg missense_variant benign JHH2 Missense Mutation ZFHX4 chr8 77776211 77776211 C T g.77776211C>T ENST00000521891.2 c.10261C>T p.His3421Tyr missense_variant probably damaging JHH2 Missense Mutation SLC7A13 chr8 87226836 87226836 C T g.87226836C>T ENST00000297524.3 c.1219G>A p.Val407Met missense_variant benign JHH2 Missense Mutation CPQ chr8 97847203 97847203 A G g.97847203A>G ENST00000220763.5 c.436A>G p.Ile146Val (Splice) missense_variant,splice_region_variant possibly damaging JHH2 Missense Mutation OR5C1 chr9 125552163 125552163 G A g.125552163G>A ENST00000373680.2 c.952G>A p.Gly318Arg missense_variant benign JHH2 Missense Mutation ZBTB26 chr9 125682009 125682009 C T g.125682009C>T ENST00000373654.1 c.205G>A p.Glu69Lys missense_variant benign JHH2 Missense Mutation GARNL3 chr9 130155474 130155474 G C g.130155474G>C ENST00000373387.4 c.2983G>C p.Gly995Arg missense_variant benign JHH2 Missense Mutation ENG chr9 130588067 130588067 C T g.130588067C>T ENST00000344849.3 c.596G>A p.Arg199His missense_variant benign JHH2 Missense Mutation TSC1 chr9 135776993 135776993 T G g.135776993T>G ENST00000298552.3 c.2485A>C p.Ser829Arg missense_variant probably damaging JHH2 Missense Mutation SNAPC4 chr9 139273185 139273185 A T g.139273185A>T ENST00000298532.2 c.3094T>A p.Ser1032Thr missense_variant benign JHH2 Missense Mutation CLIC3 chr9 139889717 139889717 C A g.139889717C>A ENST00000494426.1 c.297G>T p.Arg99Ser missense_variant benign JHH2 Missense Mutation NELFB chr9 140161708 140161708 C T g.140161708C>T ENST00000343053.4 c.1255C>T p.Arg419Cys missense_variant probably damaging JHH2 Missense Mutation KIAA0020 chr9 2812337 2812337 A G g.2812337A>G ENST00000397885.2 c.1295T>C p.Ile432Thr missense_variant probably damaging JHH2 Missense Mutation TAF1L chr9 32635075 32635075 T C g.32635075T>C ENST00000242310.4 c.503A>G p.Asp168Gly missense_variant benign JHH2 Missense Mutation TJP2 chr9 71869213 71869213 T C g.71869213T>C ENST00000377245.4 c.3496T>C p.Tyr1166His missense_variant probably damaging JHH2 Missense Mutation ZNF782 chr9 99580608 99580608 T C g.99580608T>C ENST00000481138.1 c.1697A>G p.His566Arg missense_variant benign JHH2 Missense Mutation IRS4 chrX 107977029 107977029 C A g.107977029C>A ENST00000372129.2 c.2546G>T p.Trp849Leu missense_variant benign JHH2 Missense Mutation AVPR2 chrX 153172097 153172097 G A g.153172097G>A ENST00000337474.5 c.1031G>A p.Arg344Gln missense_variant benign JHH2 Missense Mutation ZRSR2 chrX 15841062 15841062 C A g.15841062C>A ENST00000307771.7 c.1146C>A p.Asn382Lys missense_variant benign JHH2 Missense Mutation WNK3 chrX 54263589 54263589 G C g.54263589G>C ENST00000354646.2 c.4410C>G p.Ser1470Arg missense_variant possibly damaging JHH2 Missense Mutation AR chrX 66765158 66765158 T A g.66765158T>A ENST00000374690.3 c.170T>A p.Leu57Gln missense_variant unknown JHH4 Missense Mutation SYCP1 chr1 115524039 115524039 G A g.115524039G>A ENST00000369518.1 c.2465G>A p.Arg822Gln missense_variant benign JHH4 Missense Mutation DRAXIN chr1 11766524 11766524 G A g.11766524G>A ENST00000294485.5 c.209G>A p.Gly70Asp missense_variant possibly damaging JHH4 Missense Mutation CLCN6 chr1 11888268 11888268 G A g.11888268G>A ENST00000312413.6 c.946G>A p.Glu316Lys missense_variant benign JHH4 Missense Mutation GLTPD1 chr1 1262701 1262701 G A g.1262701G>A ENST00000343938.4 c.203G>A p.Arg68Lys missense_variant possibly damaging JHH4 Missense Mutation TCHH chr1 152080879 152080879 C T g.152080879C>T ENST00000368804.1 c.4814G>A p.Arg1605His missense_variant possibly damaging JHH4 Missense Mutation KPRP chr1 152732959 152732959 C T g.152732959C>T ENST00000368773.1 c.895C>T p.Arg299Cys missense_variant probably damaging JHH4 Missense Mutation CRTC2 chr1 153921613 153921613 A T g.153921613A>T ENST00000368633.1 c.1652T>A p.Met551Lys missense_variant benign JHH4 Missense Mutation MUC1 chr1 155159989 155159989 G A g.155159989G>A ENST00000368395.1 c.1145C>T p.Ala382Val missense_variant probably damaging JHH4 Missense Mutation FBLIM1 chr1 16091618 16091618 C T g.16091618C>T ENST00000332305.5 c.140C>T p.Ala47Val missense_variant benign JHH4 Missense Mutation SPEN chr1 16260782 16260782 G A g.16260782G>A ENST00000375759.3 c.8047G>A p.Val2683Met missense_variant probably damaging JHH4 Missense Mutation ZBTB17 chr1 16273459 16273459 C G g.16273459C>G ENST00000375733.2 c.365G>C p.Gly122Ala missense_variant benign JHH4 Missense Mutation CDK11A chr1 1635549 1635549 G T g.1635549G>T ENST00000378633.1 c.1732C>A p.Pro578Thr missense_variant damaging JHH4 Missense Mutation FMO3 chr1 171077348 171077348 C T g.171077348C>T ENST00000367755.4 c.613C>T p.Arg205Cys missense_variant benign JHH4 Missense Mutation BRINP2 chr1 177250522 177250522 G A g.177250522G>A ENST00000361539.4 c.2210G>A p.Arg737Gln missense_variant possibly damaging JHH4 Missense Mutation CNTN2 chr1 205035023 205035023 C T g.205035023C>T ENST00000331830.4 c.1802C>T p.Thr601Ile missense_variant possibly damaging JHH4 Missense Mutation RASSF5 chr1 206757771 206757771 G A g.206757771G>A ENST00000355294.4 c.743G>A p.Arg248Gln missense_variant probably damaging JHH4 Missense Mutation RPS6KC1 chr1 213415059 213415059 A G g.213415059A>G ENST00000366960.3 c.2240A>G p.Lys747Arg missense_variant benign JHH4 Missense Mutation OBSCN chr1 228471318 228471318 G A g.228471318G>A ENST00000284548.11 c.8852G>A p.Gly2951Asp missense_variant benign JHH4 Missense Mutation OR2L13 chr1 248263191 248263191 G A g.248263191G>A ENST00000358120.2 c.514G>A p.Ala172Thr missense_variant possibly damaging JHH4 Missense Mutation UBXN11 chr1 26628211 26628211 C T g.26628211C>T ENST00000314675.7 c.74G>A p.Arg25Lys (Splice) missense_variant,splice_region_variant benign JHH4 Missense Mutation ZCCHC11 chr1 52940666 52940666 A C g.52940666A>C ENST00000257177.4 c.2565T>G p.Asn855Lys missense_variant benign JHH4 Missense Mutation KCNAB2 chr1 6157385 6157385 G A g.6157385G>A ENST00000164247.1 c.982G>A p.Asp328Asn missense_variant benign JHH4 Missense Mutation INSL5 chr1 67263892 67263892 C T g.67263892C>T ENST00000304526.2 c.212G>A p.Arg71His missense_variant benign JHH4 Missense Mutation ODF2L chr1 86841990 86841990 A G g.86841990A>G ENST00000294678.2 c.736T>C p.Ser246Pro missense_variant probably damaging JHH4 Missense Mutation GBP4 chr1 89662979 89662979 C T g.89662979C>T ENST00000355754.6 c.49G>A p.Glu17Lys missense_variant benign JHH4 Missense Mutation ABCA4 chr1 94522354 94522354 C T g.94522354C>T ENST00000370225.3 c.2185G>A p.Asp729Asn missense_variant benign JHH4 Missense Mutation ABCA4 chr1 94544208 94544208 C T g.94544208C>T ENST00000370225.3 c.1294G>A p.Glu432Lys missense_variant benign JHH4 Missense Mutation AGRN chr1 986963 986963 C T g.986963C>T ENST00000379370.2 c.5501C>T p.Pro1834Leu missense_variant probably damaging JHH4 Missense Mutation EIF3A chr10 120795712 120795712 C A g.120795712C>A ENST00000369144.3 c.3988G>T p.Val1330Phe missense_variant benign JHH4 Missense Mutation INPP5F chr10 121586520 121586520 C G g.121586520C>G ENST00000361976.2 c.2627C>G p.Ala876Gly missense_variant benign JHH4 Missense Mutation SEPHS1 chr10 13375944 13375944 T C g.13375944T>C ENST00000327347.5 c.433A>G p.Ile145Val missense_variant benign JHH4 Missense Mutation MYO3A chr10 26359295 26359295 C A g.26359295C>A ENST00000265944.5 c.1324C>A p.His442Asn missense_variant possibly damaging JHH4 Missense Mutation ARHGAP12 chr10 32101709 32101709 G T g.32101709G>T ENST00000344936.2 c.1877C>A p.Thr626Asn missense_variant benign JHH4 Missense Mutation BMS1 chr10 43325850 43325850 C T g.43325850C>T ENST00000374518.5 c.3598C>T p.Arg1200Cys missense_variant probably damaging JHH4 Missense Mutation ANTXRL chr10 47701104 47701104 C G g.47701104C>G ENST00000447511.2 c.1680C>G p.Ser560Arg missense_variant benign JHH4 Missense Mutation AKR1C4 chr10 5242247 5242247 T A g.5242247T>A ENST00000263126.1 c.188T>A p.Leu63Gln missense_variant benign JHH4 Missense Mutation PCDH15 chr10 55996624 55996624 G A g.55996624G>A ENST00000320301.6 c.944C>T p.Pro315Leu missense_variant probably damaging JHH4 Missense Mutation STOX1 chr10 70644274 70644274 G A g.70644274G>A ENST00000298596.6 c.722G>A p.Cys241Tyr missense_variant possibly damaging JHH4 Missense Mutation SFMBT2 chr10 7326103 7326103 C T g.7326103C>T ENST00000361972.4 c.535G>A p.Gly179Arg missense_variant probably damaging JHH4 Missense Mutation CYP2C18 chr10 96466592 96466592 A G g.96466592A>G ENST00000285979.6 c.694A>G p.Lys232Glu missense_variant benign JHH4 Missense Mutation PDLIM1 chr10 97023760 97023760 C A g.97023760C>A ENST00000329399.6 c.394G>T p.Ala132Ser missense_variant possibly damaging JHH4 Missense Mutation MUC6 chr11 1031856 1031856 C T g.1031856C>T ENST00000421673.2 c.313G>A p.Val105Ile missense_variant benign JHH4 Missense Mutation NPAT chr11 108043562 108043562 A G g.108043562A>G ENST00000278612.8 c.2149T>C p.Ser717Pro missense_variant benign JHH4 Missense Mutation C11orf87 chr11 109294618 109294618 C G g.109294618C>G ENST00000327419.6 c.259C>G p.Arg87Gly missense_variant probably damaging JHH4 Missense Mutation RNF214 chr11 117105004 117105004 G T g.117105004G>T ENST00000300650.4 c.16G>T p.Val6Phe missense_variant probably damaging JHH4 Missense Mutation USP2 chr11 119243920 119243920 G A g.119243920G>A ENST00000260187.2 c.271C>T p.Arg91Trp missense_variant benign JHH4 Missense Mutation CCDC15 chr11 124857177 124857177 G C g.124857177G>C ENST00000344762.5 c.1055G>C p.Gly352Ala missense_variant probably damaging JHH4 Missense Mutation APLP2 chr11 129939970 129939970 A C g.129939970A>C ENST00000263574.5 c.98A>C p.Tyr33Ser missense_variant probably damaging JHH4 Missense Mutation E2F8 chr11 19256365 19256365 A G g.19256365A>G ENST00000250024.4 c.692T>C p.Ile231Thr missense_variant benign JHH4 Missense Mutation NAV2 chr11 19955549 19955549 G A g.19955549G>A ENST00000396087.3 c.1828G>A p.Glu610Lys missense_variant probably damaging JHH4 Missense Mutation NDUFS3 chr11 47603943 47603943 C G g.47603943C>G ENST00000263774.4 c.550C>G p.Leu184Val missense_variant probably damaging JHH4 Missense Mutation OR4C13 chr11 49974650 49974650 C G g.49974650C>G ENST00000555099.1 c.676C>G p.His226Asp missense_variant benign JHH4 Missense Mutation OR52J3 chr11 5067999 5067999 C T g.5067999C>T ENST00000380370.1 c.244C>T p.Arg82Cys missense_variant probably damaging JHH4 Missense Mutation SLC3A2 chr11 62655822 62655822 G A g.62655822G>A ENST00000377890.2 c.1550G>A p.Gly517Asp missense_variant probably damaging JHH4 Missense Mutation CCKBR chr11 6291551 6291551 C T g.6291551C>T ENST00000334619.2 c.637C>T p.Arg213Trp missense_variant probably damaging JHH4 Missense Mutation SART1 chr11 65744142 65744142 G A g.65744142G>A ENST00000312397.5 c.1762G>A p.Glu588Lys missense_variant benign JHH4 Missense Mutation DCHS1 chr11 6661425 6661425 G A g.6661425G>A ENST00000299441.3 c.1420C>T p.Arg474Cys missense_variant probably damaging JHH4 Missense Mutation PC chr11 66616472 66616472 C A g.66616472C>A ENST00000393955.2 c.3435G>T p.Met1145Ile missense_variant possibly damaging JHH4 Missense Mutation ANKRD13D chr11 67059185 67059185 G A g.67059185G>A ENST00000511455.2 c.509G>A p.Arg170Gln missense_variant probably damaging JHH4 Missense Mutation ANKRD13D chr11 67069243 67069243 C G g.67069243C>G ENST00000511455.2 c.1553C>G p.Ala518Gly missense_variant benign JHH4 Missense Mutation ARAP1 chr11 72423607 72423607 G A g.72423607G>A ENST00000359373.5 c.754C>T p.Pro252Ser missense_variant benign JHH4 Missense Mutation PLEKHB1 chr11 73371867 73371867 G C g.73371867G>C ENST00000354190.5 c.565G>C p.Val189Leu missense_variant benign JHH4 Missense Mutation TENM4 chr11 78482154 78482154 C G g.78482154C>G ENST00000278550.7 c.2422G>C p.Gly808Arg missense_variant probably damaging JHH4 Missense Mutation SCUBE2 chr11 9111335 9111335 C T g.9111335C>T ENST00000309263.3 c.175G>A p.Asp59Asn missense_variant benign JHH4 Missense Mutation FICD chr12 108913218 108913218 C T g.108913218C>T ENST00000552695.1 c.1343C>T p.Ser448Phe missense_variant possibly damaging JHH4 Missense Mutation SSH1 chr12 109182635 109182635 G T g.109182635G>T ENST00000326495.5 c.2279C>A p.Ser760Tyr missense_variant possibly damaging JHH4 Missense Mutation MYO1H chr12 109878603 109878603 C T g.109878603C>T ENST00000310903.5 c.2461C>T p.Arg821Cys missense_variant benign JHH4 Missense Mutation MSI1 chr12 120783943 120783943 G C g.120783943G>C ENST00000257552.2 c.1042C>G p.Leu348Val missense_variant benign JHH4 Missense Mutation CCDC62 chr12 123285834 123285834 C A g.123285834C>A ENST00000253079.6 c.1141C>A p.Gln381Lys missense_variant benign JHH4 Missense Mutation GUCY2C chr12 14766211 14766211 C T g.14766211C>T ENST00000261170.3 c.3062G>A p.Arg1021His missense_variant benign JHH4 Missense Mutation FGFR1OP2 chr12 27117662 27117662 G A g.27117662G>A ENST00000229395.3 c.758G>A p.Ser253Asn missense_variant benign JHH4 Missense Mutation MRPS35 chr12 27863856 27863856 A G g.27863856A>G ENST00000081029.3 c.80A>G p.Tyr27Cys missense_variant benign JHH4 Missense Mutation PRICKLE1 chr12 42866206 42866206 G A g.42866206G>A ENST00000345127.3 c.113C>T p.Pro38Leu missense_variant probably damaging JHH4 Missense Mutation KRT86 chr12 52699492 52699492 C A g.52699492C>A ENST00000293525.5 c.946C>A p.Arg316Ser missense_variant possibly damaging JHH4 Missense Mutation B4GALNT1 chr12 58022599 58022599 C T g.58022599C>T ENST00000341156.4 c.899G>A p.Arg300His missense_variant probably damaging JHH4 Missense Mutation PPM1H chr12 63060973 63060973 G T g.63060973G>T ENST00000228705.6 c.1382C>A p.Pro461Gln missense_variant probably damaging JHH4 Missense Mutation TMEM5 chr12 64178797 64178797 G C g.64178797G>C ENST00000261234.6 c.373G>C p.Asp125His missense_variant probably damaging JHH4 Missense Mutation PHB2 chr12 7078718 7078718 T C g.7078718T>C ENST00000399433.2 c.235A>G p.Ile79Val missense_variant benign JHH4 Missense Mutation ZFC3H1 chr12 72027120 72027120 T C g.72027120T>C ENST00000378743.3 c.2609A>G p.Lys870Arg missense_variant benign JHH4 Missense Mutation SLC2A14 chr12 7973851 7973851 G A g.7973851G>A ENST00000396589.2 c.1004C>T p.Ala335Val missense_variant benign JHH4 Missense Mutation OTOGL chr12 80714333 80714333 C T g.80714333C>T ENST00000458043.2 c.3907C>T p.His1303Tyr missense_variant damaging JHH4 Missense Mutation HAL chr12 96368051 96368051 G A g.96368051G>A ENST00000261208.3 c.1933C>T p.His645Tyr missense_variant benign JHH4 Missense Mutation NALCN chr13 101795469 101795469 G T g.101795469G>T ENST00000251127.6 c.2080C>A p.Arg694Ser missense_variant possibly damaging JHH4 Missense Mutation SHISA2 chr13 26620871 26620871 T G g.26620871T>G ENST00000319420.3 c.668A>C p.Asn223Thr missense_variant probably damaging JHH4 Missense Mutation MTRF1 chr13 41835028 41835028 A G g.41835028A>G ENST00000379477.1 c.16T>C p.Cys6Arg missense_variant benign JHH4 Missense Mutation CYSLTR2 chr13 49281061 49281061 C A g.49281061C>A ENST00000282018.3 c.108C>A p.Phe36Leu missense_variant probably damaging JHH4 Missense Mutation AHNAK2 chr14 105413602 105413602 C A g.105413602C>A ENST00000333244.5 c.8186G>T p.Gly2729Val missense_variant probably damaging JHH4 Missense Mutation AHNAK2 chr14 105416204 105416204 T C g.105416204T>C ENST00000333244.5 c.5584A>G p.Met1862Val missense_variant benign JHH4 Missense Mutation RTN1 chr14 60193907 60193907 G A g.60193907G>A ENST00000267484.5 c.1495C>T p.Arg499Trp missense_variant probably damaging JHH4 Missense Mutation RTN1 chr14 60212544 60212544 C A g.60212544C>A ENST00000267484.5 c.897G>T p.Lys299Asn missense_variant benign JHH4 Missense Mutation MPP5 chr14 67768822 67768822 G A g.67768822G>A ENST00000261681.4 c.788G>A p.Arg263His missense_variant possibly damaging JHH4 Missense Mutation ESRRB chr14 76964643 76964643 C T g.76964643C>T ENST00000261532.7 c.1144C>T p.Arg382Cys missense_variant probably damaging JHH4 Missense Mutation IRF2BPL chr14 77492401 77492401 G C g.77492401G>C ENST00000238647.3 c.1735C>G p.Leu579Val missense_variant benign JHH4 Missense Mutation KCNK10 chr14 88729811 88729811 G A g.88729811G>A ENST00000340700.5 c.122C>T p.Pro41Leu missense_variant probably damaging JHH4 Missense Mutation CCDC88C chr14 91779567 91779567 C T g.91779567C>T ENST00000389857.6 c.2593G>A p.Val865Ile missense_variant benign JHH4 Missense Mutation IFI27L1 chr14 94568273 94568273 G A g.94568273G>A ENST00000393115.3 c.175G>A p.Gly59Arg missense_variant probably damaging JHH4 Missense Mutation FMN1 chr15 33218415 33218415 C A g.33218415C>A ENST00000334528.9 c.2517G>T p.Leu839Phe missense_variant probably damaging JHH4 Missense Mutation MGA chr15 41961174 41961174 T G g.41961174T>G ENST00000219905.7 c.82T>G p.Leu28Val missense_variant possibly damaging JHH4 Missense Mutation MAP1A chr15 43820458 43820458 G T g.43820458G>T ENST00000300231.5 c.6787G>T p.Ala2263Ser missense_variant probably damaging JHH4 Missense Mutation MAP1A chr15 43820933 43820933 G A g.43820933G>A ENST00000300231.5 c.7262G>A p.Gly2421Asp missense_variant benign JHH4 Missense Mutation UNC13C chr15 54919280 54919280 C T g.54919280C>T ENST00000260323.11 c.6614C>T p.Ser2205Phe missense_variant possibly damaging JHH4 Missense Mutation VPS13C chr15 62306142 62306142 A G g.62306142A>G ENST00000261517.5 c.734T>C p.Ile245Thr missense_variant possibly damaging JHH4 Missense Mutation SEMA7A chr15 74709961 74709961 G A g.74709961G>A ENST00000261918.4 c.521C>T p.Pro174Leu missense_variant probably damaging JHH4 Missense Mutation NGRN chr15 90814617 90814617 A G g.90814617A>G ENST00000379095.3 c.473A>G p.Asn158Ser missense_variant benign JHH4 Missense Mutation CACNA1H chr16 1263782 1263782 G T g.1263782G>T ENST00000348261.5 c.4780G>T p.Ala1594Ser (Splice) missense_variant,splice_region_variant benign JHH4 Missense Mutation CACNA1H chr16 1263783 1263783 C T g.1263783C>T ENST00000348261.5 c.4781C>T p.Ala1594Val missense_variant benign JHH4 Missense Mutation ABCC6 chr16 16315616 16315616 C A g.16315616C>A ENST00000205557.7 c.109G>T p.Val37Phe missense_variant possibly damaging JHH4 Missense Mutation TBL3 chr16 2024656 2024656 C T g.2024656C>T ENST00000568546.1 c.355C>T p.Pro119Ser missense_variant benign JHH4 Missense Mutation DNAH3 chr16 21078710 21078710 C T g.21078710C>T ENST00000261383.3 c.3412G>A p.Asp1138Asn missense_variant benign JHH4 Missense Mutation TCEB2 chr16 2821508 2821508 C T g.2821508C>T ENST00000262306.7 c.451G>A p.Gly151Arg missense_variant benign JHH4 Missense Mutation PRSS22 chr16 2905601 2905601 G A g.2905601G>A ENST00000161006.3 c.533C>T p.Ser178Leu missense_variant benign JHH4 Missense Mutation SRCAP chr16 30735148 30735148 C T g.30735148C>T ENST00000262518.4 c.4403C>T p.Ser1468Leu missense_variant benign JHH4 Missense Mutation SRCAP chr16 30735363 30735363 A G g.30735363A>G ENST00000262518.4 c.4618A>G p.Thr1540Ala missense_variant benign JHH4 Missense Mutation SETD1A chr16 30975997 30975997 C T g.30975997C>T ENST00000262519.8 c.934C>T p.Arg312Cys missense_variant probably damaging JHH4 Missense Mutation ROGDI chr16 4851529 4851529 C T g.4851529C>T ENST00000322048.7 c.175G>A p.Glu59Lys missense_variant possibly damaging JHH4 Missense Mutation ADCY7 chr16 50322107 50322107 G A g.50322107G>A ENST00000254235.3 c.17G>A p.Arg6His missense_variant probably damaging JHH4 Missense Mutation NOD2 chr16 50733645 50733645 C T g.50733645C>T ENST00000300589.2 c.320C>T p.Ala107Val missense_variant benign JHH4 Missense Mutation SLC38A7 chr16 58705081 58705081 G A g.58705081G>A ENST00000219320.4 c.1099C>T p.Arg367Trp missense_variant probably damaging JHH4 Missense Mutation PIGQ chr16 632927 632927 C A g.632927C>A ENST00000026218.5 c.1576C>A p.Pro526Thr missense_variant benign JHH4 Missense Mutation WFIKKN1 chr16 682771 682771 G A g.682771G>A ENST00000319070.2 c.361G>A p.Glu121Lys missense_variant probably damaging JHH4 Missense Mutation SLC7A6 chr16 68309144 68309144 C T g.68309144C>T ENST00000219343.6 c.515C>T p.Ala172Val missense_variant benign JHH4 Missense Mutation MTSS1L chr16 70708384 70708384 G A g.70708384G>A ENST00000338779.6 c.878C>T p.Pro293Leu missense_variant probably damaging JHH4 Missense Mutation RFWD3 chr16 74666539 74666539 T G g.74666539T>G ENST00000361070.4 c.1459A>C p.Met487Leu missense_variant benign JHH4 Missense Mutation CHTF18 chr16 847871 847871 C T g.847871C>T ENST00000262315.9 c.2824C>T p.Arg942Trp missense_variant benign JHH4 Missense Mutation NCOR1 chr17 15960844 15960844 C T g.15960844C>T ENST00000268712.3 c.6376G>A p.Asp2126Asn missense_variant probably damaging JHH4 Missense Mutation SMG6 chr17 2200560 2200560 G A g.2200560G>A ENST00000263073.6 c.2128C>T p.Arg710Cys missense_variant probably damaging JHH4 Missense Mutation CLUH chr17 2606725 2606725 G A g.2606725G>A ENST00000435359.1 c.248C>T p.Thr83Met missense_variant probably damaging JHH4 Missense Mutation ATAD5 chr17 29220793 29220793 T C g.29220793T>C ENST00000321990.4 c.4922T>C p.Leu1641Pro missense_variant probably damaging JHH4 Missense Mutation RHBDL3 chr17 30611799 30611799 C T g.30611799C>T ENST00000269051.4 c.257C>T p.Ala86Val missense_variant possibly damaging JHH4 Missense Mutation C17orf102 chr17 32904610 32904610 C T g.32904610C>T ENST00000357754.1 c.440G>A p.Gly147Asp missense_variant probably damaging JHH4 Missense Mutation GPR179 chr17 36483547 36483547 C T g.36483547C>T ENST00000342292.4 c.5905G>A p.Val1969Ile missense_variant benign JHH4 Missense Mutation FBXO47 chr17 37107903 37107903 C T g.37107903C>T ENST00000378079.2 c.547G>A p.Val183Ile missense_variant probably damaging JHH4 Missense Mutation C17orf85 chr17 3743430 3743430 T C g.3743430T>C ENST00000389005.4 c.319A>G p.Arg107Gly missense_variant possibly damaging JHH4 Missense Mutation KRTAP4-16P chr17 39258269 39258269 G A g.39258269G>A ENST00000440582.1 c.193C>T p.R65C missense_variant NA JHH4 Missense Mutation ZNF385C chr17 40183754 40183754 T C g.40183754T>C NM_001242704.1 c.322A>G p.Lys187Glu missense_variant benign JHH4 Missense Mutation NAGLU chr17 40693093 40693093 G A g.40693093G>A ENST00000225927.2 c.890G>A p.Arg297Gln missense_variant possibly damaging JHH4 Missense Mutation SPPL2C chr17 43924163 43924163 A G g.43924163A>G ENST00000329196.5 c.1891A>G p.Met631Val missense_variant benign JHH4 Missense Mutation B4GALNT2 chr17 47210159 47210159 C T g.47210159C>T ENST00000393354.2 c.5C>T p.Thr2Ile missense_variant benign JHH4 Missense Mutation ABCC3 chr17 48761427 48761427 G A g.48761427G>A ENST00000285238.8 c.4072G>A p.Gly1358Ser missense_variant probably damaging JHH4 Missense Mutation EPX chr17 56274475 56274475 G C g.56274475G>C ENST00000225371.5 c.977G>C p.Arg326Pro missense_variant probably damaging JHH4 Missense Mutation HELZ chr17 65110496 65110496 C T g.65110496C>T ENST00000358691.5 c.3862G>A p.Gly1288Arg missense_variant probably damaging JHH4 Missense Mutation CD300C chr17 72539058 72539058 C T g.72539058C>T ENST00000330793.1 c.469G>A p.Val157Met missense_variant probably damaging JHH4 Missense Mutation OTOP3 chr17 72943332 72943332 A C g.72943332A>C ENST00000328801.4 c.1382A>C p.His461Pro missense_variant probably damaging JHH4 Missense Mutation LLGL2 chr17 73570320 73570320 C T g.73570320C>T ENST00000167462.5 c.2932C>T p.Arg978Cys missense_variant probably damaging JHH4 Missense Mutation EVPL chr17 74005376 74005376 C G g.74005376C>G ENST00000301607.3 c.3910G>C p.Glu1304Gln missense_variant probably damaging JHH4 Missense Mutation SPHK1 chr17 74383057 74383057 A T g.74383057A>T ENST00000392496.3 c.545A>T p.Glu182Val missense_variant probably damaging JHH4 Missense Mutation TP53 chr17 7577534 7577534 C A g.7577534C>A ENST00000269305.4 c.747G>T p.Arg249Ser missense_variant probably damaging JHH4 Missense Mutation DNAH2 chr17 7697644 7697644 C T g.7697644C>T ENST00000389173.2 c.7642C>T p.Arg2548Cys missense_variant possibly damaging JHH4 Missense Mutation USP43 chr17 9631397 9631397 C A g.9631397C>A ENST00000285199.7 c.2462C>A p.Ser821Tyr missense_variant possibly damaging JHH4 Missense Mutation LAMA3 chr18 21456270 21456270 G A g.21456270G>A ENST00000313654.9 c.5011G>A p.Gly1671Arg missense_variant probably damaging JHH4 Missense Mutation DSG3 chr18 29054297 29054297 C T g.29054297C>T ENST00000257189.4 c.2315C>T p.Thr772Ile missense_variant probably damaging JHH4 Missense Mutation WDR7 chr18 54483282 54483282 G A g.54483282G>A ENST00000254442.3 c.3211G>A p.Ala1071Thr missense_variant benign JHH4 Missense Mutation LAMA1 chr18 7017330 7017330 C G g.7017330C>G ENST00000389658.3 c.2755G>C p.Gly919Arg missense_variant probably damaging JHH4 Missense Mutation FLJ44313 chr18 74208621 74208621 A G g.74208621A>G NM_001272093.2 c.464A>G p.Lys155Arg missense_variant NA JHH4 Missense Mutation NFATC1 chr18 77227513 77227513 A G g.77227513A>G ENST00000253506.5 c.2023A>G p.Ser675Gly missense_variant benign JHH4 Missense Mutation SOGA2 chr18 8825452 8825452 G A g.8825452G>A ENST00000359865.3 c.3944G>A p.Arg1315Gln missense_variant possibly damaging JHH4 Missense Mutation ATP8B3 chr19 1789575 1789575 A G g.1789575A>G ENST00000310127.6 c.2630T>C p.Leu877Pro missense_variant probably damaging JHH4 Missense Mutation PIK3R2 chr19 18277999 18277999 C T g.18277999C>T ENST00000222254.8 c.1619C>T p.Thr540Met missense_variant benign JHH4 Missense Mutation SSBP4 chr19 18542969 18542969 G A g.18542969G>A ENST00000270061.7 c.649G>A p.Gly217Ser missense_variant possibly damaging JHH4 Missense Mutation COMP chr19 18902026 18902026 G A g.18902026G>A ENST00000222271.2 c.53C>T p.Ala18Val missense_variant benign JHH4 Missense Mutation NCAN chr19 19329894 19329894 C T g.19329894C>T ENST00000252575.6 c.244C>T p.Arg82Trp missense_variant possibly damaging JHH4 Missense Mutation ZNF181 chr19 35232390 35232390 G C g.35232390G>C ENST00000492450.1 c.1104G>C p.Gln368His missense_variant probably damaging JHH4 Missense Mutation ZNF792 chr19 35449072 35449072 C T g.35449072C>T ENST00000404801.1 c.1687G>A p.Glu563Lys missense_variant benign JHH4 Missense Mutation SIPA1L3 chr19 38631895 38631895 G A g.38631895G>A ENST00000222345.6 c.3215G>A p.Gly1072Asp missense_variant benign JHH4 Missense Mutation SYCN chr19 39694563 39694563 A G g.39694563A>G ENST00000318438.6 c.332T>C p.Leu111Pro missense_variant probably damaging JHH4 Missense Mutation TGFB1 chr19 41858865 41858865 C T g.41858865C>T ENST00000221930.5 c.85G>A p.Gly29Arg missense_variant benign JHH4 Missense Mutation CEACAM7 chr19 42191149 42191149 G A g.42191149G>A ENST00000006724.3 c.68C>T p.Ser23Leu missense_variant probably damaging JHH4 Missense Mutation TPRX2P chr19 48364575 48364575 G A g.48364575G>A ENST00000535362.1 c.787G>A p.A263T missense_variant NA JHH4 Missense Mutation FAM83E chr19 49106812 49106812 C T g.49106812C>T ENST00000263266.3 c.1115G>A p.Arg372His missense_variant probably damaging JHH4 Missense Mutation POLD1 chr19 50905094 50905094 C T g.50905094C>T ENST00000440232.2 c.376C>T p.Arg126Cys missense_variant probably damaging JHH4 Missense Mutation GPR32 chr19 51274077 51274077 C T g.51274077C>T ENST00000270590.4 c.220C>T p.Arg74Cys missense_variant possibly damaging JHH4 Missense Mutation HAS1 chr19 52220394 52220394 C T g.52220394C>T ENST00000222115.1 c.755G>A p.Arg252Gln missense_variant benign JHH4 Missense Mutation ZNF160 chr19 53572288 53572288 C T g.53572288C>T ENST00000418871.1 c.1499G>A p.Arg500Gln missense_variant benign JHH4 Missense Mutation LILRB5 chr19 54754724 54754724 T C g.54754724T>C ENST00000316219.5 c.1699A>G p.Thr567Ala missense_variant benign JHH4 Missense Mutation LAIR2 chr19 55019183 55019183 C T g.55019183C>T ENST00000301202.2 c.148C>T p.Arg50Trp missense_variant probably damaging JHH4 Missense Mutation ZNF784 chr19 56133446 56133446 C T g.56133446C>T ENST00000325351.4 c.643G>A p.Glu215Lys missense_variant probably damaging JHH4 Missense Mutation ZBTB45 chr19 59028317 59028317 C T g.59028317C>T ENST00000354590.3 c.724G>A p.Ala242Thr missense_variant benign JHH4 Missense Mutation ZBTB45 chr19 59028787 59028787 T G g.59028787T>G ENST00000354590.3 c.254A>C p.Glu85Ala missense_variant probably damaging JHH4 Missense Mutation MZF1 chr19 59073662 59073662 C T g.59073662C>T ENST00000215057.2 c.1982G>A p.Ser661Asn missense_variant benign JHH4 Missense Mutation ACSBG2 chr19 6141573 6141573 A G g.6141573A>G ENST00000252669.5 c.19A>G p.Thr7Ala missense_variant benign JHH4 Missense Mutation PRTN3 chr19 846221 846221 C A g.846221C>A ENST00000234347.5 c.444C>A p.His148Gln missense_variant benign JHH4 Missense Mutation PRAM1 chr19 8563851 8563851 A G g.8563851A>G ENST00000255612.3 c.841T>C p.Phe281Leu missense_variant benign JHH4 Missense Mutation MUC16 chr19 9075904 9075904 C T g.9075904C>T ENST00000397910.4 c.11542G>A p.Ala3848Thr missense_variant benign JHH4 Missense Mutation TMEM182 chr2 103380800 103380800 C T g.103380800C>T ENST00000412401.2 c.245C>T p.Pro82Leu missense_variant benign JHH4 Missense Mutation HNMT chr2 138771642 138771642 A G g.138771642A>G ENST00000280097.3 c.821A>G p.Lys274Arg missense_variant benign JHH4 Missense Mutation EPC2 chr2 149528867 149528867 C T g.149528867C>T ENST00000258484.6 c.1631C>T p.Thr544Ile missense_variant possibly damaging JHH4 Missense Mutation WDSUB1 chr2 160114275 160114275 A G g.160114275A>G ENST00000359774.4 c.946T>C p.Cys316Arg missense_variant benign JHH4 Missense Mutation TTC30A chr2 178482994 178482994 C G g.178482994C>G ENST00000355689.5 c.436G>C p.Glu146Gln missense_variant benign JHH4 Missense Mutation TTN chr2 179446726 179446726 T C g.179446726T>C ENST00000591111.1 c.61447A>G p.Thr20483Ala missense_variant benign JHH4 Missense Mutation TTN chr2 179480434 179480434 G A g.179480434G>A ENST00000591111.1 c.43471C>T p.Arg14491Cys missense_variant benign JHH4 Missense Mutation TTN chr2 179632780 179632780 T C g.179632780T>C ENST00000342992.6 c.9266A>G p.Gln3089Arg missense_variant benign JHH4 Missense Mutation NIF3L1 chr2 201757042 201757042 C A g.201757042C>A ENST00000409020.1 c.376C>A p.Pro126Thr missense_variant probably damaging JHH4 Missense Mutation ZDBF2 chr2 207171457 207171457 T A g.207171457T>A ENST00000374423.3 c.2205T>A p.Asn735Lys missense_variant probably damaging JHH4 Missense Mutation LANCL1 chr2 211305429 211305429 T A g.211305429T>A ENST00000233714.4 c.583A>T p.Arg195Trp missense_variant probably damaging JHH4 Missense Mutation FN1 chr2 216300439 216300439 G T g.216300439G>T ENST00000323926.6 c.87C>A p.Ser29Arg missense_variant benign JHH4 Missense Mutation GPBAR1 chr2 219127574 219127574 C T g.219127574C>T ENST00000479077.1 c.127C>T p.Arg43Cys missense_variant probably damaging JHH4 Missense Mutation ABCB6 chr2 220082993 220082993 G T g.220082993G>T ENST00000265316.3 c.403C>A p.Arg135Ser missense_variant benign JHH4 Missense Mutation SPHKAP chr2 228855885 228855885 G T g.228855885G>T ENST00000392056.3 c.4790C>A p.Pro1597Gln missense_variant benign JHH4 Missense Mutation TRIP12 chr2 230725177 230725177 G A g.230725177G>A ENST00000389044.4 c.169C>T p.Pro57Ser missense_variant benign JHH4 Missense Mutation CHRND chr2 233392983 233392983 C A g.233392983C>A ENST00000258385.3 c.255C>A p.Asp85Glu missense_variant probably damaging JHH4 Missense Mutation IQCA1 chr2 237240114 237240114 A C g.237240114A>C ENST00000409907.3 c.2261T>G p.Leu754Arg missense_variant probably damaging JHH4 Missense Mutation OR6B3 chr2 240985270 240985270 C T g.240985270C>T ENST00000319423.4 c.220G>A p.Val74Met missense_variant probably damaging JHH4 Missense Mutation DRC1 chr2 26676222 26676222 C T g.26676222C>T ENST00000288710.2 c.1724C>T p.Ala575Val missense_variant benign JHH4 Missense Mutation SLC30A6 chr2 32422793 32422793 C T g.32422793C>T ENST00000282587.5 c.563C>T p.Pro188Leu missense_variant probably damaging JHH4 Missense Mutation LHCGR chr2 48950791 48950791 T A g.48950791T>A ENST00000294954.7 c.428A>T p.Lys143Met missense_variant probably damaging JHH4 Missense Mutation MPHOSPH10 chr2 71360042 71360042 T C g.71360042T>C ENST00000244230.2 c.104T>C p.Leu35Ser missense_variant probably damaging JHH4 Missense Mutation INO80B chr2 74684981 74684981 T G g.74684981T>G ENST00000233331.7 c.1061T>G p.Leu354Trp missense_variant probably damaging JHH4 Missense Mutation RETSAT chr2 85571407 85571407 C G g.85571407C>G ENST00000263854.6 c.1321G>C p.Ala441Pro missense_variant benign JHH4 Missense Mutation NCAPH chr2 97033037 97033037 A G g.97033037A>G ENST00000240423.4 c.1924A>G p.Met642Val missense_variant probably damaging JHH4 Missense Mutation MRPL30 chr2 99811235 99811235 G T g.99811235G>T ENST00000338148.3 c.154G>T p.Asp52Tyr missense_variant benign JHH4 Missense Mutation BPIFA1 chr20 31825623 31825623 G A g.31825623G>A ENST00000354297.4 c.106G>A p.Val36Met missense_variant benign JHH4 Missense Mutation TTI1 chr20 36641993 36641993 C G g.36641993C>G ENST00000373447.3 c.226G>C p.Glu76Gln missense_variant possibly damaging JHH4 Missense Mutation TRIB3 chr20 371983 371983 C G g.371983C>G ENST00000217233.3 c.344C>G p.Pro115Arg missense_variant probably damaging JHH4 Missense Mutation EMILIN3 chr20 39991148 39991148 C T g.39991148C>T ENST00000332312.3 c.1061G>A p.Ser354Asn missense_variant benign JHH4 Missense Mutation ZNF334 chr20 45131121 45131121 A T g.45131121A>T ENST00000347606.4 c.857T>A p.Ile286Asn missense_variant possibly damaging JHH4 Missense Mutation GCNT7 chr20 55066737 55066737 G A g.55066737G>A NM_080615.1 c.1169C>T p.Pro390Leu missense_variant probably damaging JHH4 Missense Mutation APP chr21 27327998 27327998 C G g.27327998C>G ENST00000346798.3 c.1530G>C p.Lys510Asn missense_variant probably damaging JHH4 Missense Mutation N6AMT1 chr21 30252248 30252248 C T g.30252248C>T ENST00000303775.5 c.340G>A p.Glu114Lys missense_variant benign JHH4 Missense Mutation USP16 chr21 30410743 30410743 G C g.30410743G>C ENST00000334352.4 c.724G>C p.Ala242Pro missense_variant benign JHH4 Missense Mutation KRTAP10-8 chr21 46032658 46032658 G A g.46032658G>A ENST00000334662.2 c.641G>A p.Arg214His missense_variant benign JHH4 Missense Mutation KLHL22 chr22 20819470 20819470 G A g.20819470G>A ENST00000328879.4 c.787C>T p.Pro263Ser missense_variant benign JHH4 Missense Mutation RTDR1 chr22 23404077 23404077 G C g.23404077G>C ENST00000216036.4 c.700C>G p.Pro234Ala missense_variant probably damaging JHH4 Missense Mutation UPB1 chr22 24891462 24891462 G A g.24891462G>A ENST00000326010.5 c.91G>A p.Gly31Ser missense_variant probably damaging JHH4 Missense Mutation PIWIL3 chr22 25152460 25152460 G A g.25152460G>A ENST00000332271.5 c.568C>T p.Arg190Trp (Splice) missense_variant,splice_region_variant probably damaging JHH4 Missense Mutation TTC28 chr22 28494930 28494930 C T g.28494930C>T ENST00000397906.2 c.3520G>A p.Ala1174Thr missense_variant possibly damaging JHH4 Missense Mutation DEPDC5 chr22 32272225 32272225 T C g.32272225T>C ENST00000382112.3 c.3752T>C p.Ile1251Thr missense_variant probably damaging JHH4 Missense Mutation IL2RB chr22 37524365 37524365 G A g.37524365G>A ENST00000216223.5 c.1427C>T p.Thr476Ile missense_variant benign JHH4 Missense Mutation CACNA1I chr22 40045634 40045634 G T g.40045634G>T ENST00000401624.1 c.1696G>T p.Gly566Cys missense_variant probably damaging JHH4 Missense Mutation MKL1 chr22 40815133 40815133 C T g.40815133C>T ENST00000355630.3 c.1309G>A p.Ala437Thr missense_variant benign JHH4 Missense Mutation MOV10L1 chr22 50530503 50530503 G T g.50530503G>T ENST00000262794.5 c.171G>T p.Met57Ile missense_variant benign JHH4 Missense Mutation TUBGCP6 chr22 50658099 50658099 C T g.50658099C>T ENST00000248846.5 c.4289G>A p.Arg1430Gln missense_variant benign JHH4 Missense Mutation CAND2 chr3 12857408 12857408 C G g.12857408C>G ENST00000456430.2 c.1342C>G p.Arg448Gly missense_variant possibly damaging JHH4 Missense Mutation TF chr3 133494430 133494430 C G g.133494430C>G ENST00000402696.3 c.1841C>G p.Ala614Gly missense_variant benign JHH4 Missense Mutation HLTF chr3 148764044 148764044 C T g.148764044C>T ENST00000310053.5 c.1895G>A p.Arg632His (Splice) missense_variant,splice_region_variant possibly damaging JHH4 Missense Mutation AADACL2 chr3 151458518 151458518 T C g.151458518T>C ENST00000356517.3 c.223T>C p.Ser75Pro missense_variant possibly damaging JHH4 Missense Mutation GFM1 chr3 158366853 158366853 C T g.158366853C>T ENST00000264263.5 c.596C>T p.Ala199Val missense_variant probably damaging JHH4 Missense Mutation MFSD1 chr3 158522146 158522146 A G g.158522146A>G ENST00000415822.2 c.349A>G p.Thr117Ala missense_variant benign JHH4 Missense Mutation OTOL1 chr3 161221708 161221708 A T g.161221708A>T ENST00000327928.4 c.1412A>T p.Glu471Val missense_variant probably damaging JHH4 Missense Mutation HTR3D chr3 183754557 183754557 C T g.183754557C>T ENST00000382489.3 c.533C>T p.Ser178Phe missense_variant benign JHH4 Missense Mutation SCN10A chr3 38781125 38781125 G A g.38781125G>A ENST00000449082.2 c.2161C>T p.Pro721Ser missense_variant probably damaging JHH4 Missense Mutation SMARCC1 chr3 47629793 47629793 G T g.47629793G>T ENST00000254480.5 c.3224C>A p.Pro1075His missense_variant probably damaging JHH4 Missense Mutation NCKIPSD chr3 48720379 48720379 G A g.48720379G>A ENST00000294129.2 c.238C>T p.Arg80Trp missense_variant probably damaging JHH4 Missense Mutation AMT chr3 49459581 49459581 T C g.49459581T>C ENST00000273588.3 c.214A>G p.Thr72Ala missense_variant probably damaging JHH4 Missense Mutation TEX264 chr3 51708454 51708454 A G g.51708454A>G ENST00000341333.5 c.134A>G p.Asn45Ser missense_variant benign JHH4 Missense Mutation ABHD14A chr3 52014474 52014474 C T g.52014474C>T ENST00000273596.3 c.463C>T p.Arg155Trp missense_variant probably damaging JHH4 Missense Mutation DNAH1 chr3 52381857 52381857 T C g.52381857T>C ENST00000420323.2 c.1973T>C p.Leu658Pro missense_variant probably damaging JHH4 Missense Mutation ITIH4 chr3 52850912 52850912 G A g.52850912G>A ENST00000266041.4 c.2459C>T p.Ser820Leu missense_variant benign JHH4 Missense Mutation PTPRG chr3 62263281 62263281 C T g.62263281C>T ENST00000474889.1 c.3692C>T p.Thr1231Met missense_variant possibly damaging JHH4 Missense Mutation KBTBD8 chr3 67054076 67054076 G A g.67054076G>A ENST00000417314.2 c.685G>A p.Glu229Lys missense_variant possibly damaging JHH4 Missense Mutation GRM7 chr3 7782053 7782053 C T g.7782053C>T ENST00000357716.4 c.2708C>T p.Ala903Val missense_variant benign JHH4 Missense Mutation EPHA3 chr3 89390165 89390165 G A g.89390165G>A ENST00000336596.2 c.914G>A p.Arg305Lys missense_variant benign JHH4 Missense Mutation RAD18 chr3 8955335 8955335 T C g.8955335T>C ENST00000264926.2 c.959A>G p.Asn320Ser missense_variant benign JHH4 Missense Mutation EPHA6 chr3 96585671 96585671 G A g.96585671G>A ENST00000389672.5 c.388G>A p.Val130Met (Splice) missense_variant,splice_region_variant probably damaging JHH4 Missense Mutation TRIM2 chr4 154197101 154197101 G A g.154197101G>A ENST00000437508.2 c.191G>A p.Arg64His missense_variant probably damaging JHH4 Missense Mutation DCHS2 chr4 155253906 155253906 A C g.155253906A>C ENST00000357232.4 c.1957T>G p.Ser653Ala missense_variant benign JHH4 Missense Mutation LCORL chr4 17885935 17885935 G A g.17885935G>A ENST00000382226.5 c.1217C>T p.Ser406Leu missense_variant benign JHH4 Missense Mutation GPR125 chr4 22390250 22390250 A G g.22390250A>G ENST00000334304.5 c.3044T>C p.Leu1015Ser missense_variant benign JHH4 Missense Mutation HTT chr4 3240698 3240698 G A g.3240698G>A ENST00000355072.5 c.9208G>A p.A3070T missense_variant benign JHH4 Missense Mutation GPRIN3 chr4 90168960 90168960 G T g.90168960G>T ENST00000333209.4 c.2302C>A p.Arg768Ser missense_variant probably damaging JHH4 Missense Mutation ANKRD33B chr5 10649482 10649482 G A g.10649482G>A ENST00000296657.5 c.742G>A p.Glu248Lys missense_variant benign JHH4 Missense Mutation PCDHGB2 chr5 140741347 140741347 C T g.140741347C>T ENST00000522605.1 c.1645C>T p.Arg549Cys missense_variant benign JHH4 Missense Mutation NEURL1B chr5 172110465 172110465 G C g.172110465G>C ENST00000369800.5 c.621G>C p.Gln207His missense_variant benign JHH4 Missense Mutation IRX4 chr5 1878357 1878357 T A g.1878357T>A ENST00000231357.2 c.1286A>T p.Asp429Val missense_variant probably damaging JHH4 Missense Mutation CDH10 chr5 24498608 24498608 G C g.24498608G>C ENST00000264463.4 c.1414C>G p.Arg472Gly missense_variant benign JHH4 Missense Mutation ANKRD31 chr5 74441908 74441908 T G g.74441908T>G ENST00000274361.3 c.3328A>C p.Asn1110His missense_variant damaging JHH4 Missense Mutation POC5 chr5 74988249 74988249 C T g.74988249C>T ENST00000428202.2 c.767G>A p.Arg256Gln missense_variant possibly damaging JHH4 Missense Mutation CKMT2 chr5 80561993 80561993 T G g.80561993T>G ENST00000254035.4 c.1176T>G p.Asn392Lys missense_variant benign JHH4 Missense Mutation KIAA0825 chr5 93856334 93856334 G T g.93856334G>T ENST00000312498.7 c.589C>A p.Gln197Lys missense_variant benign JHH4 Missense Mutation PREP chr6 105821310 105821310 C T g.105821310C>T ENST00000369110.3 c.529G>A p.Ala177Thr missense_variant benign JHH4 Missense Mutation ROS1 chr6 117638325 117638325 C T g.117638325C>T ENST00000368508.3 c.6116G>A p.Arg2039His missense_variant probably damaging JHH4 Missense Mutation NUS1 chr6 118014312 118014312 A T g.118014312A>T ENST00000368494.3 c.523A>T p.Asn175Tyr missense_variant probably damaging JHH4 Missense Mutation ADGB chr6 147105797 147105797 A G g.147105797A>G ENST00000397944.3 c.4079A>G p.Tyr1360Cys missense_variant probably damaging JHH4 Missense Mutation HIST1H2BB chr6 26043854 26043854 G A g.26043854G>A ENST00000357905.2 c.32C>T p.Pro11Leu missense_variant probably damaging JHH4 Missense Mutation PRRC2A chr6 31601380 31601380 C T g.31601380C>T ENST00000376007.4 c.4544C>T p.Pro1515Leu missense_variant benign JHH4 Missense Mutation PHF1 chr6 33382863 33382863 G A g.33382863G>A ENST00000374516.3 c.1181G>A p.Arg394His missense_variant benign JHH4 Missense Mutation SLC26A8 chr6 35930312 35930312 T G g.35930312T>G ENST00000355574.2 c.1452A>C p.Gln484His missense_variant possibly damaging JHH4 Missense Mutation ECI2 chr6 4126379 4126379 C T g.4126379C>T ENST00000380118.3 c.664G>A p.Val222Ile missense_variant benign JHH4 Missense Mutation PKHD1 chr6 51613326 51613326 C G g.51613326C>G ENST00000340994.4 c.9088G>C p.Ala3030Pro missense_variant probably damaging JHH4 Missense Mutation HCRTR2 chr6 55039572 55039572 A G g.55039572A>G ENST00000370862.3 c.187A>G p.Ile63Val missense_variant benign JHH4 Missense Mutation FILIP1 chr6 76023061 76023061 C A g.76023061C>A ENST00000237172.7 c.2487G>T p.Gln829His missense_variant probably damaging JHH4 Missense Mutation PRSS35 chr6 84233570 84233570 G T g.84233570G>T ENST00000369700.3 c.410G>T p.Arg137Met missense_variant probably damaging JHH4 Missense Mutation ZNF292 chr6 87969561 87969561 C T g.87969561C>T ENST00000369577.3 c.6214C>T p.Leu2072Phe missense_variant benign JHH4 Missense Mutation RRAGD chr6 90077912 90077912 T C g.90077912T>C ENST00000369415.4 c.1066A>G p.Asn356Asp missense_variant probably damaging JHH4 Missense Mutation CDHR3 chr7 105636790 105636790 C A g.105636790C>A ENST00000317716.9 c.703C>A p.Arg235Ser missense_variant benign JHH4 Missense Mutation CPED1 chr7 120737875 120737875 C T g.120737875C>T ENST00000310396.5 c.739C>T p.Arg247Cys missense_variant probably damaging JHH4 Missense Mutation SMO chr7 128850877 128850877 A T g.128850877A>T ENST00000249373.3 c.1724A>T p.Lys575Met missense_variant benign JHH4 Missense Mutation VIPR2 chr7 158835860 158835860 G A g.158835860G>A ENST00000262178.2 c.463C>T p.His155Tyr missense_variant probably damaging JHH4 Missense Mutation NACAD chr7 45124598 45124598 G A g.45124598G>A ENST00000490531.2 c.1181C>T p.Ala394Val missense_variant possibly damaging JHH4 Missense Mutation BAALC chr8 104225261 104225261 G A g.104225261G>A ENST00000309982.5 c.275G>A p.Ser92Asn missense_variant benign JHH4 Missense Mutation DCAF13 chr8 104427234 104427234 C T g.104427234C>T ENST00000297579.5 c.16C>T p.Pro6Ser missense_variant damaging JHH4 Missense Mutation ZFPM2 chr8 106813325 106813325 G A g.106813325G>A ENST00000407775.2 c.1015G>A p.Val339Ile missense_variant benign JHH4 Missense Mutation EPPK1 chr8 144946569 144946569 C T g.144946569C>T ENST00000525985.1 c.853G>A p.G285S missense_variant possibly damaging JHH4 Missense Mutation ADAM28 chr8 24170983 24170983 T C g.24170983T>C ENST00000265769.4 c.466T>C p.Phe156Leu missense_variant probably damaging JHH4 Missense Mutation ADAM7 chr8 24300070 24300070 C T g.24300070C>T ENST00000175238.6 c.137C>T p.Thr46Ile missense_variant benign JHH4 Missense Mutation SLC20A2 chr8 42329766 42329766 C G g.42329766C>G ENST00000342228.3 c.143G>C p.Cys48Ser missense_variant probably damaging JHH4 Missense Mutation CPNE3 chr8 87567105 87567105 C T g.87567105C>T ENST00000198765.4 c.1147C>T p.Arg383Trp missense_variant probably damaging JHH4 Missense Mutation TNKS chr8 9609296 9609296 G A g.9609296G>A ENST00000310430.6 c.3010G>A p.Val1004Ile missense_variant benign JHH4 Missense Mutation GABBR2 chr9 101065617 101065617 G A g.101065617G>A ENST00000259455.2 c.2318C>T p.Thr773Met missense_variant probably damaging JHH4 Missense Mutation CTNNAL1 chr9 111705108 111705108 T A g.111705108T>A ENST00000325551.4 c.2146A>T p.Met716Leu missense_variant benign JHH4 Missense Mutation PAPPA chr9 119144750 119144750 C T g.119144750C>T ENST00000328252.3 c.4754C>T p.Thr1585Ile missense_variant benign JHH4 Missense Mutation TTLL11 chr9 124751908 124751908 C A g.124751908C>A ENST00000321582.5 c.1105G>T p.Ala369Ser missense_variant benign JHH4 Missense Mutation RABGAP1 chr9 125863962 125863962 C G g.125863962C>G ENST00000373647.4 c.3007C>G p.Leu1003Val missense_variant benign JHH4 Missense Mutation FNBP1 chr9 132740787 132740787 T C g.132740787T>C ENST00000355681.3 c.302A>G p.Asp101Gly missense_variant benign JHH4 Missense Mutation LAMC3 chr9 133961049 133961049 T G g.133961049T>G ENST00000361069.4 c.4169T>G p.Leu1390Arg missense_variant benign JHH4 Missense Mutation FCN1 chr9 137805454 137805454 C T g.137805454C>T ENST00000371806.3 c.313G>A p.Ala105Thr missense_variant benign JHH4 Missense Mutation MRPS2 chr9 138392593 138392593 G C g.138392593G>C ENST00000241600.5 c.37G>C p.Gly13Arg missense_variant benign JHH4 Missense Mutation SNAPC4 chr9 139277822 139277822 G A g.139277822G>A ENST00000298532.2 c.1799C>T p.Pro600Leu missense_variant benign JHH4 Missense Mutation FAM154A chr9 18928446 18928446 G C g.18928446G>C ENST00000380534.4 c.1029C>G p.Asp343Glu missense_variant probably damaging JHH4 Missense Mutation KIF24 chr9 34290230 34290230 T C g.34290230T>C ENST00000379166.2 c.1069A>G p.Ile357Val missense_variant possibly damaging JHH4 Missense Mutation KANK1 chr9 712634 712634 A G g.712634A>G ENST00000382297.2 c.1868A>G p.Lys623Arg missense_variant benign JHH4 Missense Mutation FANCB chrX 14876060 14876060 C G g.14876060C>G ENST00000324138.3 c.1121G>C p.Cys374Ser missense_variant possibly damaging JHH4 Missense Mutation U82695.9 chrX 152751427 152751427 T G g.152751427T>G ENST00000428676.1 c.70T>G p.S24A missense_variant NA JHH4 Missense Mutation IDH3G chrX 153051841 153051841 G T g.153051841G>T ENST00000217901.5 c.988C>A p.Leu330Met missense_variant probably damaging JHH4 Missense Mutation NEFL chr8 24810463 24810463 C T g.24810463C>T NM_006158.4 c.1493G>A p.Ala498Thr (Splice) missense_variant,splice_region_variant benign JHH4 Missense Mutation CXorf22 chrX 35937933 35937933 G A g.35937933G>A ENST00000297866.5 c.17G>A p.Gly6Asp missense_variant probably damaging JHH4 Missense Mutation AR chrX 66905912 66905912 A G g.66905912A>G ENST00000374690.3 c.1829A>G p.Lys610Arg missense_variant probably damaging JHH5 Missense Mutation AGL chr1 100366232 100366232 C A g.100366232C>A ENST00000294724.4 c.3403C>A p.Leu1135Ile missense_variant probably damaging JHH5 Missense Mutation EXOSC10 chr1 11158143 11158143 T C g.11158143T>C ENST00000304457.7 c.182A>G p.Asp61Gly missense_variant probably damaging JHH5 Missense Mutation BCAS2 chr1 115124190 115124190 G A g.115124190G>A ENST00000369541.3 c.23C>T p.Ala8Val missense_variant probably damaging JHH5 Missense Mutation IQGAP3 chr1 156513961 156513961 G A g.156513961G>A ENST00000361170.2 c.2443C>T p.His815Tyr missense_variant benign JHH5 Missense Mutation OR6K3 chr1 158687707 158687707 A T g.158687707A>T ENST00000368145.1 c.199T>A p.Ser67Thr missense_variant probably damaging JHH5 Missense Mutation KIAA1751 chr1 1905486 1905486 G A g.1905486G>A NM_001080484.1 c.652C>T p.Arg218Trp missense_variant probably damaging JHH5 Missense Mutation IGSF8 chr1 160068249 160068249 C G g.160068249C>G ENST00000314485.7 c.14G>C p.Arg5Thr missense_variant benign JHH5 Missense Mutation C1orf64 chr1 16332749 16332749 G A g.16332749G>A ENST00000329454.2 c.418G>A p.Val140Met missense_variant possibly damaging JHH5 Missense Mutation PADI3 chr1 17597417 17597417 G A g.17597417G>A ENST00000375460.3 c.875G>A p.Arg292Gln missense_variant probably damaging JHH5 Missense Mutation CEP350 chr1 179983580 179983580 G T g.179983580G>T ENST00000367607.3 c.1992G>T p.Leu664Phe missense_variant probably damaging JHH5 Missense Mutation QSOX1 chr1 180124188 180124188 C A g.180124188C>A ENST00000367600.5 c.146C>A p.Thr49Lys missense_variant possibly damaging JHH5 Missense Mutation CR2 chr1 207653332 207653332 C T g.207653332C>T ENST00000367058.3 c.2945C>T p.Ala982Val missense_variant benign JHH5 Missense Mutation MUL1 chr1 20827269 20827269 C T g.20827269C>T ENST00000264198.3 c.973G>A p.Glu325Lys missense_variant benign JHH5 Missense Mutation RAB3GAP2 chr1 220330767 220330767 C G g.220330767C>G ENST00000358951.2 c.3400G>C p.Val1134Leu missense_variant benign JHH5 Missense Mutation HSPG2 chr1 22163333 22163333 C A g.22163333C>A ENST00000374695.3 c.10317G>T p.Q3439H missense_variant benign JHH5 Missense Mutation MIA3 chr1 222801037 222801037 G A g.222801037G>A ENST00000344441.6 c.475G>A p.Glu159Lys missense_variant probably damaging JHH5 Missense Mutation TLR5 chr1 223284519 223284519 C T g.223284519C>T ENST00000342210.6 c.1855G>A p.Val619Ile missense_variant benign JHH5 Missense Mutation DNAH14 chr1 225334903 225334903 C T g.225334903C>T ENST00000430092.1 c.4841C>T p.Ala1614Val missense_variant probably damaging JHH5 Missense Mutation LBR chr1 225600276 225600276 C T g.225600276C>T ENST00000272163.4 c.964G>A p.Val322Met missense_variant benign JHH5 Missense Mutation OBSCN chr1 228461605 228461605 G C g.228461605G>C ENST00000284548.11 c.5272G>C p.Glu1758Gln missense_variant possibly damaging JHH5 Missense Mutation RAB4A chr1 229438619 229438619 C G g.229438619C>G ENST00000366690.4 c.552C>G p.Asp184Glu missense_variant benign JHH5 Missense Mutation LYST chr1 235872443 235872443 T C g.235872443T>C ENST00000389793.2 c.10091A>G p.Tyr3364Cys missense_variant probably damaging JHH5 Missense Mutation TCEB3 chr1 24083523 24083523 C T g.24083523C>T ENST00000418390.2 c.2243C>T p.Pro748Leu missense_variant benign JHH5 Missense Mutation PLCH2 chr1 2436222 2436222 G A g.2436222G>A ENST00000378486.3 c.3821G>A p.Arg1274His missense_variant benign JHH5 Missense Mutation HDAC1 chr1 32793249 32793249 G A g.32793249G>A ENST00000373548.3 c.607G>A p.Glu203Lys missense_variant possibly damaging JHH5 Missense Mutation WRAP73 chr1 3552573 3552573 C A g.3552573C>A ENST00000270708.7 c.538G>T p.Asp180Tyr missense_variant probably damaging JHH5 Missense Mutation ZMYM4 chr1 35855579 35855579 G C g.35855579G>C ENST00000314607.6 c.2467G>C p.Gly823Arg missense_variant probably damaging JHH5 Missense Mutation SH3D21 chr1 36785645 36785645 G A g.36785645G>A ENST00000426732.2 c.1033G>A p.Ala345Thr missense_variant benign JHH5 Missense Mutation ELAVL4 chr1 50666792 50666792 G A g.50666792G>A ENST00000371823.4 c.1085G>A p.Arg362His missense_variant probably damaging JHH5 Missense Mutation FOXD3 chr1 63789081 63789081 G T g.63789081G>T ENST00000371116.2 c.352G>T p.Gly118Cys missense_variant probably damaging JHH5 Missense Mutation JAK1 chr1 65321324 65321324 G A g.65321324G>A ENST00000342505.4 c.1516C>T p.Arg506Cys missense_variant possibly damaging JHH5 Missense Mutation RERE chr1 8716327 8716327 G C g.8716327G>C ENST00000337907.3 c.30C>G p.Asp10Glu missense_variant benign JHH5 Missense Mutation PLEKHN1 chr1 908905 908905 G T g.908905G>T ENST00000379409.2 c.1475G>T p.Ser492Ile missense_variant possibly damaging JHH5 Missense Mutation CDC7 chr1 91977228 91977228 T G g.91977228T>G ENST00000234626.6 c.410T>G p.Leu137Arg missense_variant probably damaging JHH5 Missense Mutation PPRC1 chr10 103900396 103900396 G A g.103900396G>A ENST00000278070.2 c.2131G>A p.Val711Met missense_variant benign JHH5 Missense Mutation EIF3A chr10 120795712 120795712 C A g.120795712C>A ENST00000369144.3 c.3988G>T p.Val1330Phe missense_variant benign JHH5 Missense Mutation ADAM12 chr10 127753506 127753506 G T g.127753506G>T ENST00000368676.4 c.1487C>A p.Thr496Lys missense_variant possibly damaging JHH5 Missense Mutation KNDC1 chr10 135038303 135038303 A G g.135038303A>G ENST00000304613.3 c.5159A>G p.Asp1720Gly missense_variant probably damaging JHH5 Missense Mutation C10orf10 chr10 45472899 45472899 G A g.45472899G>A ENST00000298295.3 c.580C>T p.Arg194Cys missense_variant benign JHH5 Missense Mutation ERCC6 chr10 50678714 50678714 T C g.50678714T>C ENST00000355832.5 c.3292A>G p.Ser1098Gly missense_variant benign JHH5 Missense Mutation PRKCQ chr10 6540472 6540472 T C g.6540472T>C ENST00000263125.5 c.428A>G p.His143Arg missense_variant probably damaging JHH5 Missense Mutation SFTPD chr10 81701267 81701267 G T g.81701267G>T ENST00000372292.3 c.554C>A p.Ser185Tyr missense_variant possibly damaging JHH5 Missense Mutation MMP20 chr11 102464198 102464198 G A g.102464198G>A ENST00000260228.2 c.1219C>T p.Leu407Phe missense_variant possibly damaging JHH5 Missense Mutation MUC6 chr11 1026127 1026127 C A g.1026127C>A ENST00000421673.2 c.2561G>T p.Gly854Val missense_variant probably damaging JHH5 Missense Mutation ATM chr11 108138000 108138000 C G g.108138000C>G ENST00000278616.4 c.2569C>G p.Leu857Val missense_variant probably damaging JHH5 Missense Mutation C2CD2L chr11 118984833 118984833 C T g.118984833C>T ENST00000336702.3 c.1670C>T p.Ala557Val missense_variant probably damaging JHH5 Missense Mutation SAAL1 chr11 18110922 18110922 A G g.18110922A>G ENST00000300013.4 c.725T>C p.Val242Ala missense_variant benign JHH5 Missense Mutation NAV2 chr11 20071386 20071386 C G g.20071386C>G ENST00000396087.3 c.4444C>G p.Leu1482Val missense_variant benign JHH5 Missense Mutation RIC8A chr11 213397 213397 C T g.213397C>T ENST00000325207.5 c.1472C>T p.Thr491Ile missense_variant possibly damaging JHH5 Missense Mutation FANCF chr11 22646662 22646662 T C g.22646662T>C ENST00000327470.3 c.695A>G p.Glu232Gly missense_variant possibly damaging JHH5 Missense Mutation SLC5A12 chr11 26719995 26719995 G C g.26719995G>C ENST00000280467.6 c.909C>G p.Asp303Glu missense_variant benign JHH5 Missense Mutation ART1 chr11 3681010 3681010 G T g.3681010G>T ENST00000250693.1 c.261G>T p.Gln87His missense_variant possibly damaging JHH5 Missense Mutation ACCSL chr11 44072929 44072929 C T g.44072929C>T ENST00000378832.1 c.680C>T p.Ala227Val missense_variant probably damaging JHH5 Missense Mutation EXT2 chr11 44146485 44146485 G A g.44146485G>A ENST00000343631.3 c.890G>A p.Arg297His missense_variant probably damaging JHH5 Missense Mutation ACP2 chr11 47269639 47269639 C T g.47269639C>T ENST00000256997.3 c.160G>A p.Asp54Asn missense_variant probably damaging JHH5 Missense Mutation RAPSN chr11 47469438 47469438 C A g.47469438C>A ENST00000298854.2 c.457G>T p.Ala153Ser missense_variant possibly damaging JHH5 Missense Mutation PGA5 chr11 61018706 61018706 G A g.61018706G>A ENST00000312403.5 c.1120G>A p.Val374Ile missense_variant benign JHH5 Missense Mutation BEST1 chr11 61727452 61727452 C A g.61727452C>A ENST00000378043.4 c.1037C>A p.Pro346His missense_variant probably damaging JHH5 Missense Mutation SLC22A25 chr11 62984831 62984831 T C g.62984831T>C ENST00000306494.6 c.785A>G p.Gln262Arg missense_variant probably damaging JHH5 Missense Mutation BATF2 chr11 64757202 64757202 C T g.64757202C>T ENST00000301887.4 c.224G>A p.Arg75Gln missense_variant benign JHH5 Missense Mutation DNHD1 chr11 6560038 6560038 G A g.6560038G>A ENST00000254579.6 c.3323G>A p.Arg1108His (Splice) missense_variant,splice_region_variant probably damaging JHH5 Missense Mutation SYN2 chr3 12228904 12228904 G C g.12228904G>C NM_133625.4 c.1405G>C p.Gly469Arg missense_variant possibly damaging JHH5 Missense Mutation SPTBN2 chr11 66455773 66455773 G A g.66455773G>A ENST00000309996.2 c.6241C>T p.Arg2081Trp missense_variant probably damaging JHH5 Missense Mutation POLR2L chr11 840440 840440 G A g.840440G>A ENST00000322028.4 c.136C>T p.Arg46Cys missense_variant possibly damaging JHH5 Missense Mutation SBF2 chr11 9838422 9838422 C T g.9838422C>T ENST00000256190.8 c.3943G>A p.Ala1315Thr missense_variant benign JHH5 Missense Mutation CNTN5 chr11 99786848 99786848 G A g.99786848G>A ENST00000279463.3 c.640G>A p.Val214Ile missense_variant possibly damaging JHH5 Missense Mutation TAS2R13 chr12 11061446 11061446 T C g.11061446T>C ENST00000390677.2 c.452A>G p.His151Arg missense_variant benign JHH5 Missense Mutation RPH3A chr12 113325663 113325663 T A g.113325663T>A ENST00000389385.4 c.1498T>A p.Ser500Thr missense_variant benign JHH5 Missense Mutation RASAL1 chr12 113543655 113543655 G A g.113543655G>A ENST00000261729.5 c.1691C>T p.Ser564Leu missense_variant possibly damaging JHH5 Missense Mutation PXN chr12 120652642 120652642 C T g.120652642C>T ENST00000228307.7 c.1264G>A p.Gly422Ser missense_variant possibly damaging JHH5 Missense Mutation HCAR3 chr12 123200903 123200903 G A g.123200903G>A ENST00000528880.2 c.382C>T p.Arg128Trp missense_variant probably damaging JHH5 Missense Mutation ABCB9 chr12 123434341 123434341 G A g.123434341G>A ENST00000280560.8 c.841C>T p.Arg281Cys missense_variant probably damaging JHH5 Missense Mutation GTF2H3 chr12 124123814 124123814 A G g.124123814A>G ENST00000536375.1 c.17A>G p.Asp6Gly missense_variant possibly damaging JHH5 Missense Mutation RIMBP2 chr12 130934799 130934799 T C g.130934799T>C ENST00000261655.4 c.476A>G p.Asn159Ser missense_variant benign JHH5 Missense Mutation SFSWAP chr12 132198683 132198683 G C g.132198683G>C ENST00000261674.4 c.286G>C p.Asp96His missense_variant probably damaging JHH5 Missense Mutation TMTC1 chr12 29908758 29908758 C A g.29908758C>A ENST00000539277.1 c.615G>T p.Leu205Phe missense_variant probably damaging JHH5 Missense Mutation PKP2 chr12 33030963 33030963 C A g.33030963C>A ENST00000070846.6 c.851G>T p.Arg284Met missense_variant benign JHH5 Missense Mutation KRT74 chr12 52960826 52960826 C T g.52960826C>T ENST00000305620.2 c.1517G>A p.Arg506Gln missense_variant benign JHH5 Missense Mutation TENC1 chr12 53448193 53448193 G A g.53448193G>A ENST00000314250.6 c.490G>A p.Val164Met missense_variant benign JHH5 Missense Mutation HOXC6 chr12 54422385 54422385 A G g.54422385A>G ENST00000243108.4 c.80A>G p.Asn27Ser missense_variant benign JHH5 Missense Mutation HOXC5 chr12 54427196 54427196 G C g.54427196G>C ENST00000312492.2 c.290G>C p.Gly97Ala missense_variant possibly damaging JHH5 Missense Mutation ANKRD52 chr12 56648666 56648666 T C g.56648666T>C ENST00000267116.7 c.533A>G p.His178Arg missense_variant probably damaging JHH5 Missense Mutation BAZ2A chr12 56995379 56995379 G A g.56995379G>A ENST00000551812.1 c.4028C>T p.Ser1343Phe missense_variant probably damaging JHH5 Missense Mutation LRP1 chr12 57590880 57590880 A G g.57590880A>G ENST00000243077.3 c.9008A>G p.Tyr3003Cys missense_variant probably damaging JHH5 Missense Mutation BEST3 chr12 70078379 70078379 C T g.70078379C>T ENST00000266661.4 c.173G>A p.Gly58Asp missense_variant NA JHH5 Missense Mutation N4BP2L2 chr13 33018217 33018217 G T g.33018217G>T ENST00000399396.3 c.457C>A p.Gln153Lys missense_variant probably damaging JHH5 Missense Mutation FAM124A chr13 51826153 51826153 A C g.51826153A>C ENST00000280057.6 c.758A>C p.Asp253Ala missense_variant probably damaging JHH5 Missense Mutation OR4K15 chr14 20444458 20444458 C T g.20444458C>T ENST00000305051.5 c.781C>T p.Arg261Cys missense_variant benign JHH5 Missense Mutation ZFHX2 chr14 23991557 23991557 C T g.23991557C>T ENST00000419474.3 c.7333G>A p.Val2445Met missense_variant damaging JHH5 Missense Mutation TSSK4 chr14 24675800 24675800 T A g.24675800T>A ENST00000287913.6 c.311T>A p.Leu104Gln missense_variant probably damaging JHH5 Missense Mutation STRN3 chr14 31424891 31424891 T C g.31424891T>C ENST00000355683.5 c.395A>G p.Tyr132Cys missense_variant benign JHH5 Missense Mutation HEATR5A chr14 31858200 31858200 G C g.31858200G>C ENST00000404677.3 c.784C>G p.Gln262Glu missense_variant benign JHH5 Missense Mutation FAM179B chr14 45496504 45496504 G C g.45496504G>C ENST00000361462.2 c.3331G>C p.Val1111Leu (Splice) missense_variant,splice_region_variant probably damaging JHH5 Missense Mutation GPR137C chr14 53020277 53020277 A G g.53020277A>G ENST00000321662.6 c.412A>G p.Thr138Ala missense_variant possibly damaging JHH5 Missense Mutation SYNE2 chr14 64407378 64407378 C G g.64407378C>G ENST00000341472.5 c.126C>G p.Asn42Lys missense_variant probably damaging JHH5 Missense Mutation ACTN1 chr14 69349201 69349201 C T g.69349201C>T ENST00000193403.6 c.1927G>A p.Gly643Arg missense_variant probably damaging JHH5 Missense Mutation ELMSAN1 chr14 74189487 74189487 T C g.74189487T>C ENST00000286523.5 c.2638A>G p.Ile880Val missense_variant possibly damaging JHH5 Missense Mutation ADCK1 chr14 78353440 78353440 G C g.78353440G>C ENST00000238561.5 c.430G>C p.Asp144His missense_variant possibly damaging JHH5 Missense Mutation TRIP11 chr14 92471907 92471907 G T g.92471907G>T ENST00000267622.4 c.2413C>A p.Gln805Lys missense_variant possibly damaging JHH5 Missense Mutation GOLGA5 chr14 93273104 93273104 A C g.93273104A>C ENST00000163416.2 c.568A>C p.Ser190Arg missense_variant benign JHH5 Missense Mutation C14orf177 chr14 99182581 99182581 G T g.99182581G>T ENST00000325812.2 c.53G>T p.Arg18Met missense_variant probably damaging JHH5 Missense Mutation ARHGAP11A chr15 32928766 32928766 A G g.32928766A>G ENST00000361627.3 c.1792A>G p.Lys598Glu missense_variant probably damaging JHH5 Missense Mutation C15orf52 chr15 40627456 40627456 G A g.40627456G>A ENST00000559313.1 c.1508C>T p.Pro503Leu missense_variant benign JHH5 Missense Mutation C15orf62 chr15 41063180 41063180 C A g.41063180C>A ENST00000344320.6 c.487C>A p.Gln163Lys missense_variant probably damaging JHH5 Missense Mutation CEP152 chr15 49031404 49031404 A G g.49031404A>G ENST00000380950.2 c.4175T>C p.Ile1392Thr missense_variant benign JHH5 Missense Mutation GALK2 chr15 49493421 49493421 G A g.49493421G>A ENST00000559208.1 c.116G>A p.Arg39Gln missense_variant,NMD_transcript_variant probably damaging JHH5 Missense Mutation AQP9 chr15 58471391 58471391 C T g.58471391C>T ENST00000219919.4 c.560C>T p.Ala187Val missense_variant benign JHH5 Missense Mutation ISLR chr15 74468140 74468140 T G g.74468140T>G ENST00000249842.3 c.941T>G p.Ile314Ser missense_variant possibly damaging JHH5 Missense Mutation CYP1A1 chr15 75012894 75012894 G C g.75012894G>C ENST00000379727.3 c.1475C>G p.Pro492Arg missense_variant possibly damaging JHH5 Missense Mutation C15orf39 chr15 75503198 75503198 G A g.75503198G>A ENST00000360639.2 c.2885G>A p.Arg962Lys missense_variant benign JHH5 Missense Mutation ALPK3 chr15 85411502 85411502 G T g.85411502G>T ENST00000258888.5 c.5539G>T p.Ala1847Ser missense_variant benign JHH5 Missense Mutation AEN chr15 89169946 89169946 G A g.89169946G>A ENST00000332810.3 c.506G>A p.Arg169His missense_variant benign JHH5 Missense Mutation FURIN chr15 91425038 91425038 C T g.91425038C>T ENST00000268171.3 c.2315C>T p.Pro772Leu missense_variant possibly damaging JHH5 Missense Mutation MYH11 chr16 15814159 15814159 T C g.15814159T>C ENST00000300036.5 c.4802A>G p.Tyr1601Cys missense_variant benign JHH5 Missense Mutation DNAH3 chr16 20976123 20976123 C G g.20976123C>G ENST00000261383.3 c.9083G>C p.Cys3028Ser missense_variant probably damaging JHH5 Missense Mutation ABCC11 chr16 48261867 48261867 G T g.48261867G>T ENST00000353782.5 c.245C>A p.Ala82Asp missense_variant benign JHH5 Missense Mutation CHD9 chr16 53337835 53337835 G A g.53337835G>A ENST00000398510.3 c.5917G>A p.Gly1973Ser missense_variant possibly damaging JHH5 Missense Mutation GSE1 chr16 85699734 85699734 G A g.85699734G>A ENST00000253458.7 c.2911G>A p.Gly971Arg missense_variant probably damaging JHH5 Missense Mutation ZNF469 chr16 88497798 88497798 G A g.88497798G>A ENST00000437464.1 c.3836G>A p.Gly1279Asp missense_variant benign JHH5 Missense Mutation ZNF469 chr16 88500484 88500484 C A g.88500484C>A ENST00000437464.1 c.6522C>A p.Ser2174Arg missense_variant possibly damaging JHH5 Missense Mutation DNAH9 chr17 11687707 11687707 G A g.11687707G>A ENST00000262442.4 c.7912G>A p.Gly2638Arg missense_variant benign JHH5 Missense Mutation TRPV2 chr17 16332211 16332211 C A g.16332211C>A ENST00000338560.7 c.1502C>A p.Ser501Tyr missense_variant possibly damaging JHH5 Missense Mutation SMYD4 chr17 1690142 1690142 C T g.1690142C>T ENST00000305513.7 c.1846G>A p.Glu616Lys missense_variant benign JHH5 Missense Mutation FAM83G chr17 18881988 18881988 C T g.18881988C>T ENST00000345041.4 c.991G>A p.Val331Met missense_variant possibly damaging JHH5 Missense Mutation CLUH chr17 2594958 2594958 C T g.2594958C>T ENST00000435359.1 c.3691G>A p.Ala1231Thr missense_variant benign JHH5 Missense Mutation PIPOX chr17 27371902 27371902 G T g.27371902G>T ENST00000323372.4 c.140G>T p.Ser47Ile missense_variant probably damaging JHH5 Missense Mutation ITGAE chr17 3657109 3657109 C A g.3657109C>A ENST00000263087.4 c.1495G>T p.Ala499Ser missense_variant benign JHH5 Missense Mutation KRT36 chr17 39642662 39642662 G A g.39642662G>A ENST00000328119.6 c.1370C>T p.Ser457Phe missense_variant probably damaging JHH5 Missense Mutation ZNF385C chr17 40180114 40180114 C T g.40180114C>T NM_001242704.1 c.881G>A p.Cys374Tyr missense_variant damaging JHH5 Missense Mutation KIF18B chr17 43008989 43008989 C T g.43008989C>T ENST00000593135.1 c.1498G>A p.D500N missense_variant possibly damaging JHH5 Missense Mutation DDX5 chr17 62496261 62496261 T C g.62496261T>C ENST00000225792.5 c.1625A>G p.Asn542Ser missense_variant benign JHH5 Missense Mutation KPNA2 chr17 66042689 66042689 G A g.66042689G>A ENST00000330459.3 c.1567G>A p.Ala523Thr missense_variant benign JHH5 Missense Mutation SOCS3 chr17 76354769 76354769 G T g.76354769G>T ENST00000330871.2 c.408C>A p.Phe136Leu missense_variant benign JHH5 Missense Mutation USP36 chr17 76795807 76795807 C A g.76795807C>A ENST00000312010.6 c.3066G>T p.Glu1022Asp missense_variant benign JHH5 Missense Mutation CCDC40 chr17 78073446 78073446 G A g.78073446G>A ENST00000397545.4 c.3301G>A p.Asp1101Asn missense_variant possibly damaging JHH5 Missense Mutation OGFOD3 chr17 80356089 80356089 G A g.80356089G>A ENST00000313056.5 c.806C>T p.Thr269Met missense_variant probably damaging JHH5 Missense Mutation GREB1L chr18 19098115 19098115 T C g.19098115T>C ENST00000424526.1 c.5392T>C p.Tyr1798His missense_variant benign JHH5 Missense Mutation ESCO1 chr18 19147965 19147965 C T g.19147965C>T ENST00000269214.5 c.1621G>A p.Asp541Asn missense_variant benign JHH5 Missense Mutation MYOM1 chr18 3131436 3131436 T C g.3131436T>C ENST00000261606.7 c.2443A>G p.Asn815Asp missense_variant possibly damaging JHH5 Missense Mutation ABCA7 chr19 1049396 1049396 G A g.1049396G>A ENST00000263094.6 c.2512G>A p.Ala838Thr missense_variant probably damaging JHH5 Missense Mutation KEAP1 chr19 10610511 10610511 T C g.10610511T>C ENST00000171111.5 c.199A>G p.Met67Val missense_variant possibly damaging JHH5 Missense Mutation OR10H5 chr19 15905250 15905250 G A g.15905250G>A ENST00000308940.8 c.392G>A p.Arg131His missense_variant benign JHH5 Missense Mutation ZNF257 chr19 22271279 22271279 C A g.22271279C>A ENST00000594947.1 c.727C>A p.His243Asn missense_variant benign JHH5 Missense Mutation SLC7A9 chr19 33350757 33350757 G A g.33350757G>A ENST00000023064.4 c.863C>T p.Ala288Val missense_variant probably damaging JHH5 Missense Mutation LGI4 chr19 35622936 35622936 C T g.35622936C>T ENST00000310123.3 c.325G>A p.Asp109Asn missense_variant benign JHH5 Missense Mutation HAUS5 chr19 36110563 36110563 G A g.36110563G>A ENST00000203166.5 c.1309G>A p.Ala437Thr missense_variant probably damaging JHH5 Missense Mutation GRIK5 chr19 42503348 42503348 G C g.42503348G>C ENST00000262895.3 c.2618C>G p.Ala873Gly missense_variant benign JHH5 Missense Mutation CIC chr19 42796979 42796979 C T g.42796979C>T ENST00000575354.2 c.3437C>T p.Pro1146Leu missense_variant benign JHH5 Missense Mutation MARK4 chr19 45781801 45781801 A G g.45781801A>G ENST00000262891.4 c.934A>G p.Ile312Val missense_variant benign JHH5 Missense Mutation PLIN3 chr19 4859637 4859637 C T g.4859637C>T ENST00000221957.4 c.313G>A p.Glu105Lys missense_variant probably damaging JHH5 Missense Mutation ADM5 chr19 50193556 50193556 C T g.50193556C>T ENST00000420022.3 c.268C>T p.Arg90Trp missense_variant benign JHH5 Missense Mutation SHANK1 chr19 51171378 51171378 G A g.51171378G>A ENST00000293441.1 c.3839C>T p.Pro1280Leu missense_variant probably damaging JHH5 Missense Mutation ZNF880 chr19 52887432 52887432 C G g.52887432C>G ENST00000422689.2 c.599C>G p.Ala200Gly missense_variant benign JHH5 Missense Mutation TMC4 chr19 54672379 54672379 T C g.54672379T>C ENST00000376591.4 c.488A>G p.Tyr163Cys missense_variant probably damaging JHH5 Missense Mutation ZNF324 chr19 58982578 58982578 C G g.58982578C>G ENST00000196482.3 c.719C>G p.Pro240Arg missense_variant possibly damaging JHH5 Missense Mutation GPR108 chr19 6733066 6733066 C T g.6733066C>T ENST00000264080.7 c.865G>A p.Val289Ile missense_variant probably damaging JHH5 Missense Mutation AC025278.1 chr19 7011962 7011962 A G g.7011962A>G ENST00000377296.3 c.146A>G p.H49R missense_variant NA JHH5 Missense Mutation TIMM44 chr19 7998852 7998852 C T g.7998852C>T ENST00000270538.3 c.580G>A p.Val194Ile missense_variant benign JHH5 Missense Mutation RPS28 chr19 8386559 8386559 G T g.8386559G>T ENST00000600659.2 c.59G>T p.Arg20Met missense_variant possibly damaging JHH5 Missense Mutation ODC1 chr2 10583633 10583633 A C g.10583633A>C ENST00000234111.4 c.649T>G p.Cys217Gly missense_variant benign JHH5 Missense Mutation NOL10 chr2 10712253 10712253 G A g.10712253G>A ENST00000381685.5 c.2011C>T p.Arg671Cys missense_variant probably damaging JHH5 Missense Mutation B3GALT1 chr2 168726199 168726199 G A g.168726199G>A ENST00000305861.1 c.650G>A p.Arg217His missense_variant benign JHH5 Missense Mutation CALCRL chr2 188225455 188225455 G T g.188225455G>T ENST00000392370.3 c.651C>A p.Phe217Leu missense_variant probably damaging JHH5 Missense Mutation BMPR2 chr2 203332270 203332270 A C g.203332270A>C ENST00000374574.2 c.276A>C p.Gln92His missense_variant benign JHH5 Missense Mutation FN1 chr2 216284003 216284003 A G g.216284003A>G ENST00000323926.6 c.1781T>C p.Ile594Thr missense_variant probably damaging JHH5 Missense Mutation SPHKAP chr2 228881515 228881515 G A g.228881515G>A ENST00000344657.5 c.4055C>T p.Ala1352Val missense_variant benign JHH5 Missense Mutation NMUR1 chr2 232389765 232389765 C T g.232389765C>T ENST00000305141.4 c.1270G>A p.Asp424Asn missense_variant benign JHH5 Missense Mutation INPP5D chr2 234056146 234056146 G T g.234056146G>T ENST00000359570.5 c.900G>T p.Q300H missense_variant probably damaging JHH5 Missense Mutation INPP5D chr2 234106950 234106950 C T g.234106950C>T ENST00000359570.5 c.2867C>T p.P956L missense_variant possibly damaging JHH5 Missense Mutation GPR113 chr2 26533872 26533872 T G g.26533872T>G ENST00000311519.1 c.2724A>C p.Gln908His missense_variant benign JHH5 Missense Mutation PRKD3 chr2 37520365 37520365 C T g.37520365C>T ENST00000234179.2 c.338G>A p.Arg113His missense_variant possibly damaging JHH5 Missense Mutation PLEKHH2 chr2 43958680 43958680 T C g.43958680T>C ENST00000282406.4 c.2882T>C p.Ile961Thr missense_variant benign JHH5 Missense Mutation GTF2A1L chr2 48874129 48874129 T C g.48874129T>C ENST00000403751.3 c.926T>C p.Val309Ala missense_variant benign JHH5 Missense Mutation ARHGAP25 chr2 69034419 69034419 C T g.69034419C>T ENST00000295381.3 c.478C>T p.Arg160Cys missense_variant benign JHH5 Missense Mutation TET3 chr2 74274969 74274969 C G g.74274969C>G ENST00000409262.3 c.1520C>G p.A507G missense_variant possibly damaging JHH5 Missense Mutation THNSL2 chr2 88472883 88472883 G C g.88472883G>C ENST00000324166.5 c.214G>C p.Glu72Gln missense_variant benign JHH5 Missense Mutation CIAO1 chr2 96934352 96934352 G A g.96934352G>A ENST00000488633.1 c.647G>A p.Arg216His missense_variant probably damaging JHH5 Missense Mutation SEMA4C chr2 97529783 97529783 C T g.97529783C>T ENST00000305476.5 c.1210G>A p.Val404Met missense_variant probably damaging JHH5 Missense Mutation TASP1 chr20 13539685 13539685 T A g.13539685T>A ENST00000337743.4 c.645A>T p.Gln215His missense_variant probably damaging JHH5 Missense Mutation CST5 chr20 23856889 23856889 T C g.23856889T>C ENST00000304710.4 c.365A>G p.Gln122Arg missense_variant benign JHH5 Missense Mutation DDRGK1 chr20 3180717 3180717 C T g.3180717C>T ENST00000354488.3 c.440G>A p.Arg147Gln missense_variant possibly damaging JHH5 Missense Mutation GSS chr20 33519171 33519171 C T g.33519171C>T ENST00000216951.2 c.1079G>A p.Arg360Gln missense_variant benign JHH5 Missense Mutation CHD6 chr20 40068673 40068673 C A g.40068673C>A ENST00000373233.3 c.3974G>T p.Gly1325Val missense_variant benign JHH5 Missense Mutation ZSWIM3 chr20 44507112 44507112 G A g.44507112G>A ENST00000255152.2 c.1915G>A p.Glu639Lys missense_variant possibly damaging JHH5 Missense Mutation SLC9A8 chr20 48503310 48503310 C T g.48503310C>T ENST00000361573.2 c.1513C>T p.His505Tyr missense_variant benign JHH5 Missense Mutation NFATC2 chr20 50048687 50048687 G A g.50048687G>A ENST00000371564.3 c.2639C>T p.Pro880Leu missense_variant probably damaging JHH5 Missense Mutation SPO11 chr20 55904961 55904961 T C g.55904961T>C ENST00000345868.4 c.38T>C p.Phe13Ser missense_variant benign JHH5 Missense Mutation ANKRD60 chr20 56793795 56793795 C T g.56793795C>T ENST00000457363.1 c.794G>A p.R265Q missense_variant NA JHH5 Missense Mutation MCM8 chr20 5967979 5967979 G A g.5967979G>A ENST00000378896.3 c.2215G>A p.Asp739Asn missense_variant possibly damaging JHH5 Missense Mutation KRTAP6-3 chr21 31964937 31964937 A C g.31964937A>C NM_181605.3 c.173A>C p.Tyr51Ser missense_variant possibly damaging JHH5 Missense Mutation MRAP chr21 33684248 33684248 G A g.33684248G>A ENST00000303645.5 c.460G>A p.Val154Ile missense_variant benign JHH5 Missense Mutation DSCAM chr21 41450716 41450716 C A g.41450716C>A ENST00000400454.1 c.4609G>T p.Asp1537Tyr missense_variant possibly damaging JHH5 Missense Mutation DSCAM chr21 41725610 41725610 C T g.41725610C>T ENST00000400454.1 c.716G>A p.Gly239Glu missense_variant possibly damaging JHH5 Missense Mutation COL6A1 chr21 47404307 47404307 G A g.47404307G>A ENST00000361866.3 c.352G>A p.Asp118Asn missense_variant possibly damaging JHH5 Missense Mutation DIP2A chr21 47965121 47965121 G A g.47965121G>A ENST00000417564.2 c.2248G>A p.Val750Ile missense_variant benign JHH5 Missense Mutation APOBEC3H chr22 39497300 39497300 A G g.39497300A>G ENST00000348946.4 c.209A>G p.Glu70Gly missense_variant benign JHH5 Missense Mutation HDAC10 chr22 50685138 50685138 A G g.50685138A>G ENST00000216271.5 c.1541T>C p.Leu514Pro missense_variant probably damaging JHH5 Missense Mutation PLCXD2 chr3 111426853 111426853 G A g.111426853G>A ENST00000393934.3 c.244G>A p.Ala82Thr missense_variant probably damaging JHH5 Missense Mutation CCDC80 chr3 112358433 112358433 C T g.112358433C>T ENST00000206423.3 c.320G>A p.Arg107Lys missense_variant benign JHH5 Missense Mutation WDR52 chr3 113015612 113015612 C T g.113015612C>T ENST00000393845.2 c.5198G>A p.Arg1733Gln missense_variant benign JHH5 Missense Mutation SIDT1 chr3 113342344 113342344 C T g.113342344C>T ENST00000264852.4 c.2161C>T p.Leu721Phe missense_variant possibly damaging JHH5 Missense Mutation POLQ chr3 121230769 121230769 C T g.121230769C>T ENST00000264233.5 c.1576G>A p.Glu526Lys missense_variant benign JHH5 Missense Mutation CHCHD6 chr3 126452060 126452060 C T g.126452060C>T ENST00000290913.3 c.406C>T p.Arg136Trp missense_variant probably damaging JHH5 Missense Mutation ATP2C1 chr3 130711836 130711836 A C g.130711836A>C ENST00000328560.8 c.1881A>C p.Lys627Asn missense_variant probably damaging JHH5 Missense Mutation TOPBP1 chr3 133374248 133374248 A C g.133374248A>C ENST00000260810.5 c.628T>G p.Leu210Val missense_variant probably damaging JHH5 Missense Mutation FGD5 chr3 14860754 14860754 C T g.14860754C>T ENST00000285046.5 c.176C>T p.Ser59Leu missense_variant benign JHH5 Missense Mutation ARL14 chr3 160395208 160395208 G A g.160395208G>A ENST00000320767.2 c.74G>A p.Gly25Glu missense_variant probably damaging JHH5 Missense Mutation GOLGA4 chr3 37368475 37368475 A G g.37368475A>G ENST00000361924.2 c.5098A>G p.Ser1700Gly missense_variant benign JHH5 Missense Mutation TCAIM chr3 44438276 44438276 G A g.44438276G>A ENST00000342649.4 c.835G>A p.Val279Met missense_variant benign JHH5 Missense Mutation ZKSCAN7 chr3 44598610 44598610 G A g.44598610G>A ENST00000273320.3 c.71G>A p.Arg24His missense_variant benign JHH5 Missense Mutation ZNF660 chr3 44636367 44636367 A T g.44636367A>T ENST00000322734.2 c.682A>T p.Ile228Phe missense_variant benign JHH5 Missense Mutation CDCP1 chr3 45127534 45127534 C T g.45127534C>T ENST00000296129.1 c.2107G>A p.Ala703Thr missense_variant benign JHH5 Missense Mutation BSN chr3 49680349 49680349 G A g.49680349G>A ENST00000296452.4 c.1282G>A p.Ala428Thr missense_variant probably damaging JHH5 Missense Mutation ZMYND10 chr3 50382931 50382931 A G g.50382931A>G ENST00000231749.3 c.80T>C p.Met27Thr missense_variant benign JHH5 Missense Mutation TEX264 chr3 51708379 51708379 C T g.51708379C>T ENST00000341333.5 c.59C>T p.Thr20Met missense_variant probably damaging JHH5 Missense Mutation IQCF6 chr3 51812955 51812955 C T g.51812955C>T ENST00000398780.3 c.8G>A p.Arg3His missense_variant probably damaging JHH5 Missense Mutation FOXP1 chr3 71102906 71102906 T C g.71102906T>C ENST00000318789.4 c.301A>G p.Met101Val missense_variant benign JHH5 Missense Mutation ELF2 chr4 139983109 139983109 T A g.139983109T>A ENST00000265495.4 c.680A>T p.Lys227Met missense_variant probably damaging JHH5 Missense Mutation GPR125 chr4 22444374 22444374 C A g.22444374C>A ENST00000334304.5 c.819G>T p.Met273Ile missense_variant possibly damaging JHH5 Missense Mutation PTTG2 chr4 37962189 37962189 G T g.37962189G>T ENST00000504686.1 c.134G>T p.Arg45Leu missense_variant benign JHH5 Missense Mutation NMU chr4 56502328 56502328 G A g.56502328G>A ENST00000264218.3 c.32C>T p.Ser11Leu missense_variant benign JHH5 Missense Mutation IL8 chr4 74606434 74606434 G A g.74606434G>A ENST00000307407.3 c.59G>A p.Cys20Tyr missense_variant probably damaging JHH5 Missense Mutation FRAS1 chr4 79236855 79236855 G C g.79236855G>C ENST00000264895.6 c.1786G>C p.Gly596Arg missense_variant possibly damaging JHH5 Missense Mutation CDS1 chr4 85504592 85504592 C G g.85504592C>G ENST00000295887.5 c.38C>G p.Pro13Arg missense_variant benign JHH5 Missense Mutation PDHA2 chr4 96762164 96762164 A G g.96762164A>G ENST00000295266.4 c.863A>G p.His288Arg missense_variant probably damaging JHH5 Missense Mutation GIN1 chr5 102433082 102433082 T C g.102433082T>C ENST00000399004.2 c.944A>G p.Lys315Arg missense_variant benign JHH5 Missense Mutation APBB3 chr5 139942056 139942056 A T g.139942056A>T ENST00000354402.5 c.380T>A p.Val127Glu missense_variant probably damaging JHH5 Missense Mutation DIAPH1 chr5 140907238 140907238 G C g.140907238G>C ENST00000398557.4 c.3175C>G p.Leu1059Val missense_variant probably damaging JHH5 Missense Mutation NEURL1B chr5 172110465 172110465 G C g.172110465G>C ENST00000369800.5 c.621G>C p.Gln207His missense_variant benign JHH5 Missense Mutation IRX2 chr5 2749654 2749654 G C g.2749654G>C ENST00000302057.5 c.497C>G p.Ala166Gly missense_variant probably damaging JHH5 Missense Mutation UGT3A1 chr5 35954377 35954377 A G g.35954377A>G ENST00000274278.3 c.1499T>C p.Met500Thr missense_variant benign JHH5 Missense Mutation DAB2 chr5 39382971 39382971 A G g.39382971A>G ENST00000320816.6 c.1090T>C p.Trp364Arg missense_variant probably damaging JHH5 Missense Mutation ADAMTS16 chr5 5262884 5262884 C T g.5262884C>T ENST00000274181.7 c.2777C>T p.Ala926Val missense_variant possibly damaging JHH5 Missense Mutation LNPEP chr5 96314935 96314935 C T g.96314935C>T ENST00000231368.5 c.113C>T p.Pro38Leu missense_variant probably damaging JHH5 Missense Mutation PDSS2 chr6 107475829 107475829 A C g.107475829A>C ENST00000369037.4 c.1194T>G p.Phe398Leu missense_variant benign JHH5 Missense Mutation TAAR2 chr6 132938839 132938839 G A g.132938839G>A ENST00000367931.1 c.506C>T p.Ser169Leu missense_variant possibly damaging JHH5 Missense Mutation HECA chr6 139487636 139487636 A G g.139487636A>G ENST00000367658.2 c.487A>G p.Met163Val missense_variant possibly damaging JHH5 Missense Mutation GPR126 chr6 142726870 142726870 T A g.142726870T>A ENST00000230173.6 c.2173T>A p.Leu725Met missense_variant probably damaging JHH5 Missense Mutation HIVEP2 chr6 143081792 143081792 T C g.143081792T>C ENST00000012134.2 c.5633A>G p.Asp1878Gly missense_variant possibly damaging JHH5 Missense Mutation PLAGL1 chr6 144263106 144263106 C T g.144263106C>T ENST00000354765.2 c.847G>A p.Ala283Thr missense_variant benign JHH5 Missense Mutation RBM24 chr6 17281949 17281949 G A g.17281949G>A ENST00000379052.5 c.137G>A p.Arg46Gln missense_variant probably damaging JHH5 Missense Mutation STK38 chr6 36465576 36465576 C T g.36465576C>T ENST00000229812.7 c.1153G>A p.Val385Ile missense_variant benign JHH5 Missense Mutation TSPO2 chr6 41010803 41010803 A G g.41010803A>G ENST00000373158.2 c.79A>G p.Met27Val missense_variant benign JHH5 Missense Mutation CAPN11 chr6 44145138 44145138 T C g.44145138T>C ENST00000398776.1 c.1397T>C p.Ile466Thr missense_variant probably damaging JHH5 Missense Mutation MLIP chr6 54002363 54002363 C T g.54002363C>T ENST00000514921.1 c.1463C>T p.Ser488Phe missense_variant possibly damaging JHH5 Missense Mutation CAGE1 chr6 7373706 7373706 T G g.7373706T>G ENST00000338150.4 c.1346A>C p.Glu449Ala missense_variant benign JHH5 Missense Mutation TPBG chr6 83075846 83075846 G A g.83075846G>A ENST00000369750.3 c.1168G>A p.Asp390Asn missense_variant probably damaging JHH5 Missense Mutation PNISR chr6 99849191 99849191 C T g.99849191C>T ENST00000369239.5 c.1643G>A p.Arg548Gln missense_variant benign JHH5 Missense Mutation PPP1R35 chr7 100033063 100033063 G C g.100033063G>C ENST00000292330.2 c.682C>G p.Pro228Ala missense_variant benign JHH5 Missense Mutation SERPINE1 chr7 100771940 100771940 T C g.100771940T>C ENST00000223095.4 c.266T>C p.Ile89Thr missense_variant possibly damaging JHH5 Missense Mutation PPP1R3A chr7 113519666 113519666 G A g.113519666G>A ENST00000284601.3 c.1481C>T p.Ser494Leu missense_variant possibly damaging JHH5 Missense Mutation KLHDC10 chr7 129736775 129736775 C G g.129736775C>G ENST00000335420.5 c.181C>G p.Arg61Gly missense_variant benign JHH5 Missense Mutation NUP205 chr7 135312746 135312746 A G g.135312746A>G ENST00000285968.6 c.4819A>G p.Met1607Val missense_variant benign JHH5 Missense Mutation DENND2A chr7 140301440 140301440 C T g.140301440C>T ENST00000275884.6 c.758G>A p.Gly253Asp missense_variant benign JHH5 Missense Mutation MICALL2 chr7 1481968 1481968 C G g.1481968C>G ENST00000297508.7 c.1571G>C p.Ser524Thr missense_variant benign JHH5 Missense Mutation TMUB1 chr7 150778839 150778839 G C g.150778839G>C ENST00000297533.4 c.538C>G p.Pro180Ala missense_variant benign JHH5 Missense Mutation CHPF2 chr7 150935714 150935714 C T g.150935714C>T ENST00000035307.2 c.2266C>T p.Arg756Cys missense_variant probably damaging JHH5 Missense Mutation DPP6 chr7 154172041 154172041 T A g.154172041T>A ENST00000377770.3 c.376T>A p.Ser126Thr missense_variant possibly damaging JHH5 Missense Mutation C7orf31 chr7 25176166 25176166 T A g.25176166T>A ENST00000283905.3 c.1198A>T p.Ile400Leu missense_variant benign JHH5 Missense Mutation HOXA1 chr7 27134343 27134343 T C g.27134343T>C ENST00000343060.4 c.724A>G p.Thr242Ala missense_variant probably damaging JHH5 Missense Mutation AEBP1 chr7 44150755 44150755 G A g.44150755G>A ENST00000223357.3 c.1633G>A p.Val545Ile (Splice) missense_variant,splice_region_variant benign JHH5 Missense Mutation ADCY1 chr7 45719385 45719385 G A g.45719385G>A ENST00000297323.7 c.1976G>A p.Arg659Gln missense_variant benign JHH5 Missense Mutation SLC29A4 chr7 5338985 5338985 G A g.5338985G>A ENST00000297195.4 c.1136G>A p.Arg379His missense_variant benign JHH5 Missense Mutation RNF216 chr7 5780903 5780903 C A g.5780903C>A ENST00000389900.4 c.574G>T p.Val192Phe missense_variant,NMD_transcript_variant possibly damaging JHH5 Missense Mutation POR chr7 75612935 75612935 A G g.75612935A>G ENST00000394893.1 c.928A>G p.Ile310Val missense_variant benign JHH5 Missense Mutation POR chr7 75614099 75614099 G T g.75614099G>T ENST00000394893.1 c.1071G>T p.Glu357Asp missense_variant benign JHH5 Missense Mutation PCLO chr7 82545634 82545634 A G g.82545634A>G ENST00000333891.9 c.11668T>C p.Tyr3890His missense_variant probably damaging JHH5 Missense Mutation ASB4 chr7 95115297 95115297 C T g.95115297C>T ENST00000325885.5 c.14C>T p.Thr5Ile missense_variant benign JHH5 Missense Mutation ASB4 chr7 95157425 95157425 G C g.95157425G>C ENST00000325885.5 c.788G>C p.Cys263Ser missense_variant possibly damaging JHH5 Missense Mutation PRSS55 chr8 10396062 10396062 G A g.10396062G>A ENST00000328655.3 c.818G>A p.Gly273Glu missense_variant probably damaging JHH5 Missense Mutation RP1L1 chr8 10467580 10467580 T G g.10467580T>G ENST00000382483.3 c.4028A>C p.Glu1343Ala missense_variant benign JHH5 Missense Mutation RP1L1 chr8 10467581 10467581 C T g.10467581C>T ENST00000382483.3 c.4027G>A p.Glu1343Lys missense_variant benign JHH5 Missense Mutation RP11-127H5.1 chr8 105845657 105845657 A T g.105845657A>T ENST00000521923.1 c.233A>T p.E78V missense_variant NA JHH5 Missense Mutation PKHD1L1 chr8 110539201 110539201 C G g.110539201C>G ENST00000378402.5 c.12673C>G p.Leu4225Val missense_variant possibly damaging JHH5 Missense Mutation MTMR9 chr8 11180245 11180245 G T g.11180245G>T ENST00000221086.3 c.1598G>T p.Arg533Leu missense_variant benign JHH5 Missense Mutation EXT1 chr8 118830694 118830694 C T g.118830694C>T ENST00000378204.2 c.1612G>A p.Val538Ile missense_variant possibly damaging JHH5 Missense Mutation TRAPPC9 chr8 140743395 140743395 C T g.140743395C>T ENST00000438773.2 c.3356G>A p.Arg1119Gln missense_variant possibly damaging JHH5 Missense Mutation PLEC chr8 144998118 144998118 G T g.144998118G>T ENST00000322810.4 c.6390C>A p.Ser2130Arg missense_variant benign JHH5 Missense Mutation SLC52A2 chr8 145584312 145584312 C A g.145584312C>A ENST00000329994.2 c.1064C>A p.Ala355Glu missense_variant benign JHH5 Missense Mutation CSGALNACT1 chr8 19363157 19363157 C A g.19363157C>A ENST00000311540.4 c.189G>T p.Glu63Asp missense_variant probably damaging JHH5 Missense Mutation CDCA2 chr8 25364619 25364619 A G g.25364619A>G ENST00000330560.3 c.2437A>G p.Arg813Gly missense_variant possibly damaging JHH5 Missense Mutation SCARA5 chr8 27779466 27779466 T G g.27779466T>G ENST00000354914.3 c.538A>C p.Thr180Pro missense_variant benign JHH5 Missense Mutation RPS20 chr8 56985737 56985737 A C g.56985737A>C ENST00000009589.3 c.272T>G p.Leu91Trp missense_variant possibly damaging JHH5 Missense Mutation EYA1 chr8 72211437 72211437 C A g.72211437C>A ENST00000340726.3 c.671G>T p.Gly224Val missense_variant possibly damaging JHH5 Missense Mutation SSPO chr7 149510779 149510779 A G g.149510779A>G NM_198455.2 c.10064A>G p.Asn3355Ser missense_variant benign JHH5 Missense Mutation DCAF4L2 chr8 88885425 88885425 C T g.88885425C>T ENST00000319675.3 c.775G>A p.Gly259Ser missense_variant benign JHH5 Missense Mutation RBM12B chr8 94746050 94746050 G T g.94746050G>T ENST00000399300.2 c.2589C>A p.Asp863Glu missense_variant benign JHH5 Missense Mutation NR6A1 chr9 127302330 127302330 C T g.127302330C>T ENST00000344523.4 c.578G>A p.Gly193Asp missense_variant benign JHH5 Missense Mutation SPTAN1 chr9 131389712 131389712 C G g.131389712C>G ENST00000372731.4 c.6609C>G p.Asn2203Lys missense_variant probably damaging JHH5 Missense Mutation TOR1A chr9 132586201 132586201 C A g.132586201C>A ENST00000351698.4 c.164G>T p.Ser55Ile missense_variant benign JHH5 Missense Mutation TSC1 chr9 135776993 135776993 T G g.135776993T>G ENST00000298552.3 c.2485A>C p.Ser829Arg missense_variant probably damaging JHH5 Missense Mutation CCDC183 chr9 139699856 139699856 G A g.139699856G>A ENST00000338005.6 c.895G>A p.Val299Met missense_variant probably damaging JHH5 Missense Mutation PTGDS chr9 139873565 139873565 C G g.139873565C>G ENST00000224167.2 c.235C>G p.Leu79Val missense_variant benign JHH5 Missense Mutation PNPLA7 chr9 140435134 140435134 T C g.140435134T>C ENST00000277531.4 c.632A>G p.Asp211Gly missense_variant probably damaging JHH5 Missense Mutation EHMT1 chr9 140705991 140705991 G A g.140705991G>A ENST00000460843.1 c.2791G>A p.Asp931Asn missense_variant probably damaging JHH5 Missense Mutation CCL19 chr9 34689982 34689982 G T g.34689982G>T ENST00000311925.2 c.221C>A p.Pro74Gln missense_variant possibly damaging JHH5 Missense Mutation FANCG chr9 35077347 35077347 G T g.35077347G>T ENST00000378643.3 c.560C>A p.Pro187Gln missense_variant probably damaging JHH5 Missense Mutation GBA2 chr9 35738845 35738845 C A g.35738845C>A ENST00000378094.4 c.1851G>T p.Trp617Cys missense_variant probably damaging JHH5 Missense Mutation KIAA2026 chr9 5968652 5968652 T C g.5968652T>C ENST00000381461.2 c.1579A>G p.Ser527Gly missense_variant benign JHH5 Missense Mutation TJP2 chr9 71851954 71851954 G A g.71851954G>A ENST00000265384.7 c.2081G>A p.Gly694Glu missense_variant probably damaging JHH5 Missense Mutation TMEM2 chr9 74312944 74312944 G A g.74312944G>A ENST00000377044.4 c.3554C>T p.Pro1185Leu missense_variant probably damaging JHH5 Missense Mutation NXF3 chrX 102334778 102334778 G T g.102334778G>T ENST00000395065.3 c.1073C>A p.Ser358Tyr missense_variant benign JHH5 Missense Mutation TCEAL3 chrX 102864570 102864570 G A g.102864570G>A ENST00000243286.3 c.578G>A p.Gly193Asp missense_variant benign JHH5 Missense Mutation DOCK11 chrX 117762186 117762186 T C g.117762186T>C ENST00000276202.7 c.3725T>C p.Ile1242Thr missense_variant benign JHH5 Missense Mutation C1GALT1C1 chrX 119760383 119760383 C A g.119760383C>A ENST00000304661.5 c.639G>T p.Met213Ile missense_variant benign JHH5 Missense Mutation MROH5 chr8 142477599 142477599 G A g.142477599G>A ENST00000430863.1 c.2222C>T p.Thr741Met missense_variant probably damaging JHH5 Missense Mutation ZNF280C chrX 129349302 129349302 C T g.129349302C>T ENST00000370978.4 c.1844G>A p.Arg615His missense_variant benign JHH5 Missense Mutation ATP11C chrX 138827982 138827982 G A g.138827982G>A ENST00000327569.3 c.2872C>T p.Pro958Ser missense_variant benign JHH5 Missense Mutation NHS chrX 17745280 17745280 G T g.17745280G>T ENST00000380060.3 c.2991G>T p.Leu997Phe missense_variant probably damaging JHH5 Missense Mutation POLA1 chrX 24859933 24859933 G A g.24859933G>A ENST00000379059.3 c.3883G>A p.Val1295Ile missense_variant possibly damaging JHH5 Missense Mutation NR0B1 chrX 30327329 30327329 C T g.30327329C>T ENST00000378970.4 c.152G>A p.Arg51Lys missense_variant possibly damaging JHH5 Missense Mutation AKAP4 chrX 49957463 49957463 A C g.49957463A>C ENST00000376056.2 c.1874T>G p.Ile625Ser missense_variant probably damaging JHH5 Missense Mutation GNL3L chrX 54578096 54578096 G A g.54578096G>A ENST00000336470.4 c.959G>A p.Arg320His missense_variant probably damaging JHH5 Missense Mutation ITIH6 chrX 54785211 54785211 A C g.54785211A>C ENST00000218436.6 c.1296T>G p.Asp432Glu missense_variant possibly damaging JHH5 Missense Mutation TRO chrX 54956437 54956437 A G g.54956437A>G ENST00000173898.7 c.3280A>G p.Ile1094Val missense_variant possibly damaging JHH5 Missense Mutation PCDH11Y chrY 4967268 4967268 G A g.4967268G>A ENST00000333703.4 c.1616G>A p.Arg539His missense_variant possibly damaging JHH5 Missense Mutation TBL1Y chrY 6939611 6939611 C A g.6939611C>A ENST00000346432.3 c.743C>A p.Thr248Lys missense_variant benign JHH6 Missense Mutation FRRS1 chr1 100207773 100207773 C G g.100207773C>G ENST00000287474.5 c.390G>C p.Trp130Cys missense_variant probably damaging JHH6 Missense Mutation COL11A1 chr1 103444283 103444283 G A g.103444283G>A ENST00000370096.3 c.2735C>T p.Pro912Leu missense_variant possibly damaging JHH6 Missense Mutation NBPF7 chr1 120384206 120384206 A G g.120384206A>G NM_001047980.2 c.356T>C p.Val119Ala missense_variant benign JHH6 Missense Mutation LCE1C chr1 152777767 152777767 C T g.152777767C>T ENST00000368768.1 c.188G>A p.Ser63Asn missense_variant benign JHH6 Missense Mutation NPR1 chr1 153651622 153651622 G T g.153651622G>T ENST00000368680.3 c.38G>T p.Arg13Leu missense_variant benign JHH6 Missense Mutation OR6K6 chr1 158724723 158724723 T A g.158724723T>A ENST00000368144.2 c.118T>A p.Phe40Ile missense_variant possibly damaging JHH6 Missense Mutation LY9 chr1 160784237 160784237 C T g.160784237C>T ENST00000263285.6 c.758C>T p.Thr253Met missense_variant benign JHH6 Missense Mutation EPHA2 chr1 16464614 16464614 G A g.16464614G>A ENST00000358432.5 c.1046C>T p.Thr349Met missense_variant possibly damaging JHH6 Missense Mutation RASAL2 chr1 178421723 178421723 G A g.178421723G>A ENST00000462775.1 c.1501G>A p.Asp501Asn missense_variant probably damaging JHH6 Missense Mutation CEP350 chr1 179989635 179989635 A C g.179989635A>C ENST00000367607.3 c.2726A>C p.Asp909Ala missense_variant benign JHH6 Missense Mutation LHX4 chr1 180240618 180240618 C G g.180240618C>G ENST00000263726.2 c.555C>G p.His185Gln missense_variant probably damaging JHH6 Missense Mutation PIK3C2B chr1 204413520 204413520 A G g.204413520A>G ENST00000367187.3 c.2711T>C p.Val904Ala missense_variant probably damaging JHH6 Missense Mutation HSPG2 chr1 22155354 22155354 C A g.22155354C>A ENST00000374695.3 c.12211G>T p.A4071S missense_variant possibly damaging JHH6 Missense Mutation CCSAP chr1 229462631 229462631 T C g.229462631T>C ENST00000284617.2 c.490A>G p.Arg164Gly missense_variant probably damaging JHH6 Missense Mutation NID1 chr1 236143150 236143150 T G g.236143150T>G ENST00000264187.6 c.3481A>C p.Lys1161Gln missense_variant possibly damaging JHH6 Missense Mutation KIF26B chr1 245850456 245850456 A G g.245850456A>G ENST00000407071.2 c.4171A>G p.Ile1391Val missense_variant benign JHH6 Missense Mutation SEPN1 chr1 26140628 26140628 T C g.26140628T>C ENST00000361547.2 c.1561T>C p.Phe521Leu missense_variant probably damaging JHH6 Missense Mutation ZDHHC18 chr1 27176861 27176861 C T g.27176861C>T ENST00000374142.4 c.716C>T p.Ala239Val missense_variant probably damaging JHH6 Missense Mutation AGO1 chr1 36384702 36384702 G A g.36384702G>A ENST00000373204.4 c.2312G>A p.Arg771His missense_variant benign JHH6 Missense Mutation CCDC17 chr1 46088230 46088230 T C g.46088230T>C ENST00000528266.1 c.850A>G p.Thr284Ala missense_variant benign JHH6 Missense Mutation ASB17 chr1 76384659 76384659 T A g.76384659T>A ENST00000284142.6 c.866A>T p.Asn289Ile missense_variant possibly damaging JHH6 Missense Mutation CAMTA1 chr1 7798213 7798213 G A g.7798213G>A ENST00000303635.7 c.3853G>A p.Glu1285Lys missense_variant probably damaging JHH6 Missense Mutation COL24A1 chr1 86200556 86200556 G A g.86200556G>A ENST00000370571.2 c.4874C>T p.Thr1625Ile missense_variant benign JHH6 Missense Mutation XPNPEP1 chr10 111630529 111630529 G C g.111630529G>C ENST00000502935.1 c.1656C>G p.Phe552Leu missense_variant benign JHH6 Missense Mutation TACC2 chr10 123846411 123846411 C T g.123846411C>T ENST00000334433.3 c.4396C>T p.Pro1466Ser missense_variant benign JHH6 Missense Mutation TACC2 chr10 123846780 123846780 G A g.123846780G>A ENST00000334433.3 c.4765G>A p.Val1589Met missense_variant possibly damaging JHH6 Missense Mutation KIAA1217 chr10 24820807 24820807 C T g.24820807C>T ENST00000376454.3 c.3131C>T p.Ser1044Leu missense_variant probably damaging JHH6 Missense Mutation ZNF25 chr10 38245986 38245986 C G g.38245986C>G ENST00000302609.7 c.200G>C p.Trp67Ser missense_variant probably damaging JHH6 Missense Mutation OR13A1 chr10 45799197 45799197 C T g.45799197C>T ENST00000374401.2 c.674G>A p.Gly225Asp missense_variant benign JHH6 Missense Mutation TSPAN15 chr10 71266678 71266678 G A g.71266678G>A ENST00000373290.2 c.829G>A p.Ala277Thr missense_variant benign JHH6 Missense Mutation SPOCK2 chr10 73822848 73822848 C T g.73822848C>T ENST00000317376.4 c.1064G>A p.Cys355Tyr missense_variant probably damaging JHH6 Missense Mutation IFIT3 chr10 91099603 91099603 G C g.91099603G>C ENST00000371811.4 c.1191G>C p.Glu397Asp missense_variant benign JHH6 Missense Mutation IFIT1B chr10 91143239 91143239 C A g.91143239C>A ENST00000371809.3 c.169C>A p.Leu57Ile missense_variant possibly damaging JHH6 Missense Mutation RBP4 chr10 95360242 95360242 C A g.95360242C>A ENST00000371464.3 c.263G>T p.Cys88Phe missense_variant probably damaging JHH6 Missense Mutation AVPI1 chr10 99439632 99439632 G A g.99439632G>A ENST00000370626.3 c.31C>T p.Pro11Ser missense_variant possibly damaging JHH6 Missense Mutation KIAA1377 chr11 101793458 101793458 G A g.101793458G>A ENST00000263468.8 c.215G>A p.Arg72His missense_variant probably damaging JHH6 Missense Mutation MMP20 chr11 102464198 102464198 G A g.102464198G>A ENST00000260228.2 c.1219C>T p.Leu407Phe missense_variant possibly damaging JHH6 Missense Mutation ELMOD1 chr11 107501247 107501247 G A g.107501247G>A ENST00000265840.7 c.122G>A p.Cys41Tyr missense_variant probably damaging JHH6 Missense Mutation HYOU1 chr11 118923503 118923503 C T g.118923503C>T ENST00000404233.3 c.833G>A p.Arg278Gln missense_variant probably damaging JHH6 Missense Mutation ZBTB44 chr11 130131672 130131672 T C g.130131672T>C ENST00000357899.4 c.97A>G p.Ile33Val missense_variant benign JHH6 Missense Mutation PTPN5 chr11 18754820 18754820 T G g.18754820T>G ENST00000358540.2 c.1180A>C p.Ile394Leu missense_variant benign JHH6 Missense Mutation ANO5 chr11 22283684 22283684 G A g.22283684G>A ENST00000324559.8 c.1640G>A p.Arg547Gln missense_variant probably damaging JHH6 Missense Mutation FANCF chr11 22646242 22646242 C G g.22646242C>G ENST00000327470.3 c.1115G>C p.Ser372Thr missense_variant benign JHH6 Missense Mutation SIGIRR chr11 406892 406892 C A g.406892C>A ENST00000332725.3 c.830G>T p.Arg277Leu missense_variant probably damaging JHH6 Missense Mutation SLC35C1 chr11 45827635 45827635 G T g.45827635G>T ENST00000314134.3 c.283G>T p.Ala95Ser missense_variant benign JHH6 Missense Mutation OR5AS1 chr11 55798441 55798441 C T g.55798441C>T ENST00000313555.1 c.547C>T p.Pro183Ser missense_variant probably damaging JHH6 Missense Mutation AHNAK chr11 62293202 62293202 T C g.62293202T>C ENST00000378024.4 c.8687A>G p.Lys2896Arg missense_variant probably damaging JHH6 Missense Mutation TAF6L chr11 62549388 62549388 C T g.62549388C>T ENST00000294168.3 c.554C>T p.Thr185Met missense_variant probably damaging JHH6 Missense Mutation CHRM1 chr11 62677633 62677633 G T g.62677633G>T ENST00000306960.3 c.940C>A p.Pro314Thr missense_variant possibly damaging JHH6 Missense Mutation STIP1 chr11 63953387 63953387 A C g.63953387A>C ENST00000358794.5 c.91A>C p.K31Q missense_variant NA JHH6 Missense Mutation SCYL1 chr11 65305765 65305765 G T g.65305765G>T ENST00000270176.5 c.2272G>T p.Asp758Tyr missense_variant probably damaging JHH6 Missense Mutation CARNS1 chr11 67191984 67191984 C T g.67191984C>T ENST00000307823.3 c.2396C>T p.Ala799Val missense_variant probably damaging JHH6 Missense Mutation MRGPRF chr11 68773569 68773569 C A g.68773569C>A ENST00000309099.6 c.209G>T p.Gly70Val missense_variant probably damaging JHH6 Missense Mutation CTTN chr11 70279767 70279767 G A g.70279767G>A ENST00000301843.8 c.1459G>A p.Asp487Asn missense_variant probably damaging JHH6 Missense Mutation LOC100506127 chr11 76114707 76114707 C T g.76114707C>T NM_001282456.3 c.386C>T p.Thr129Met missense_variant NA JHH6 Missense Mutation PPFIBP2 chr11 7672168 7672168 G A g.7672168G>A ENST00000299492.4 c.2219G>A p.Arg740Gln missense_variant probably damaging JHH6 Missense Mutation SMCO4 chr11 93212348 93212348 T C g.93212348T>C ENST00000298966.2 c.8A>G p.Gln3Arg missense_variant possibly damaging JHH6 Missense Mutation KDM4E chr11 94759136 94759136 G A g.94759136G>A ENST00000450979.2 c.415G>A p.Gly139Ser missense_variant probably damaging JHH6 Missense Mutation UHRF1BP1L chr12 100452222 100452222 C T g.100452222C>T ENST00000279907.7 c.2833G>A p.Asp945Asn missense_variant benign JHH6 Missense Mutation IGF1 chr12 102869505 102869505 C A g.102869505C>A ENST00000307046.8 c.136G>T p.Ala46Ser missense_variant benign JHH6 Missense Mutation CMKLR1 chr12 108686331 108686331 G A g.108686331G>A ENST00000312143.7 c.409C>T p.Arg137Cys missense_variant probably damaging JHH6 Missense Mutation GCN1L1 chr12 120628197 120628197 C T g.120628197C>T ENST00000300648.6 c.25G>A p.Glu9Lys missense_variant benign JHH6 Missense Mutation ITPR2 chr12 26784827 26784827 G A g.26784827G>A ENST00000381340.3 c.2906C>T p.Thr969Ile missense_variant possibly damaging JHH6 Missense Mutation TEAD4 chr12 3104098 3104098 G A g.3104098G>A ENST00000358409.2 c.166G>A p.A56T missense_variant probably damaging JHH6 Missense Mutation GXYLT1 chr12 42503486 42503486 T C g.42503486T>C ENST00000398675.3 c.494A>G p.Asn165Ser missense_variant benign JHH6 Missense Mutation KRT81 chr12 52681856 52681856 A C g.52681856A>C ENST00000327741.5 c.812T>G p.Met271Arg missense_variant probably damaging JHH6 Missense Mutation KRT71 chr12 52940107 52940107 C T g.52940107C>T ENST00000267119.5 c.1288G>A p.Ala430Thr missense_variant benign JHH6 Missense Mutation KRT2 chr12 53039068 53039068 C T g.53039068C>T ENST00000309680.3 c.1655G>A p.Ser552Asn missense_variant benign JHH6 Missense Mutation OR6C70 chr12 55863750 55863750 T C g.55863750T>C ENST00000327335.4 c.173A>G p.Tyr58Cys missense_variant possibly damaging JHH6 Missense Mutation STAT2 chr12 56742782 56742782 C T g.56742782C>T ENST00000314128.4 c.1502G>A p.Ser501Asn missense_variant probably damaging JHH6 Missense Mutation AVIL chr12 58197374 58197374 C T g.58197374C>T ENST00000257861.3 c.1750G>A p.Glu584Lys missense_variant probably damaging JHH6 Missense Mutation PHLDA1 chr12 76424445 76424445 G C g.76424445G>C ENST00000266671.5 c.1077C>G p.His359Gln missense_variant benign JHH6 Missense Mutation PTPRQ chr12 81026012 81026012 G T g.81026012G>T ENST00000266688.5 c.5716G>T p.V1906F missense_variant probably damaging JHH6 Missense Mutation CEP290 chr12 88500631 88500631 C A g.88500631C>A ENST00000552810.1 c.2638G>T p.Ala880Ser missense_variant benign JHH6 Missense Mutation MYO16 chr13 109610116 109610116 G A g.109610116G>A ENST00000251041.5 c.1940G>A p.Arg647Gln missense_variant benign JHH6 Missense Mutation COL4A2 chr13 111164467 111164467 G A g.111164467G>A ENST00000360467.5 c.5068G>A p.Ala1690Thr missense_variant possibly damaging JHH6 Missense Mutation TUBA3C chr13 19753624 19753624 T C g.19753624T>C ENST00000400113.3 c.83A>G p.His28Arg missense_variant benign JHH6 Missense Mutation GTF3A chr13 27999017 27999017 G A g.27999017G>A ENST00000381140.4 c.143G>A p.S48N missense_variant possibly damaging JHH6 Missense Mutation FREM2 chr13 39261614 39261614 C G g.39261614C>G ENST00000280481.7 c.133C>G p.Pro45Ala missense_variant benign JHH6 Missense Mutation SLITRK6 chr13 86368708 86368708 C T g.86368708C>T ENST00000400286.2 c.1936G>A p.Glu646Lys missense_variant possibly damaging JHH6 Missense Mutation TTC6 chr14 38166018 38166018 T G g.38166018T>G ENST00000553443.1 c.1354T>G p.C452G missense_variant NA JHH6 Missense Mutation RTN1 chr14 60193907 60193907 G A g.60193907G>A ENST00000267484.5 c.1495C>T p.Arg499Trp missense_variant probably damaging JHH6 Missense Mutation RTN1 chr14 60212544 60212544 C A g.60212544C>A ENST00000267484.5 c.897G>T p.Lys299Asn missense_variant benign JHH6 Missense Mutation EXD2 chr14 69676461 69676461 G A g.69676461G>A ENST00000312994.5 c.274G>A p.Glu92Lys missense_variant benign JHH6 Missense Mutation ZC2HC1C chr14 75537322 75537322 A G g.75537322A>G ENST00000238686.8 c.46A>G p.Met16Val missense_variant benign JHH6 Missense Mutation STON2 chr14 81744673 81744673 T C g.81744673T>C ENST00000267540.2 c.982A>G p.Ile328Val missense_variant probably damaging JHH6 Missense Mutation NPAP1 chr15 24923340 24923340 G T g.24923340G>T ENST00000329468.2 c.2326G>T p.Ala776Ser missense_variant benign JHH6 Missense Mutation OCA2 chr15 28326993 28326993 G A g.28326993G>A ENST00000353809.5 c.28C>T p.Arg10Trp missense_variant possibly damaging JHH6 Missense Mutation SPG11 chr15 44877994 44877994 A G g.44877994A>G ENST00000261866.7 c.4961T>C p.Ile1654Thr missense_variant possibly damaging JHH6 Missense Mutation FAM214A chr15 52901658 52901658 C G g.52901658C>G ENST00000261844.7 c.1453G>C p.Val485Leu missense_variant benign JHH6 Missense Mutation HERC1 chr15 63947967 63947967 T C g.63947967T>C ENST00000443617.2 c.10058A>G p.Tyr3353Cys missense_variant benign JHH6 Missense Mutation ITGA11 chr15 68600013 68600013 C T g.68600013C>T ENST00000315757.7 c.3196G>A p.Val1066Ile missense_variant benign JHH6 Missense Mutation TMEM202 chr15 72700041 72700041 C A g.72700041C>A ENST00000341689.3 c.629C>A p.Ser210Tyr missense_variant possibly damaging JHH6 Missense Mutation CCDC33 chr15 74565200 74565200 G A g.74565200G>A ENST00000398814.3 c.727G>A p.Val243Met missense_variant probably damaging JHH6 Missense Mutation TBC1D2B chr15 78305378 78305378 T C g.78305378T>C ENST00000300584.3 c.2057A>G p.Asn686Ser missense_variant benign JHH6 Missense Mutation CPEB1 chr15 83218344 83218344 T A g.83218344T>A ENST00000562019.1 c.1280A>T p.Asp427Val missense_variant probably damaging JHH6 Missense Mutation UNKL chr16 1416353 1416353 T A g.1416353T>A ENST00000389221.4 c.1931A>T p.Glu644Val missense_variant probably damaging JHH6 Missense Mutation DNAH3 chr16 20974837 20974837 C T g.20974837C>T ENST00000261383.3 c.10369G>A p.Glu3457Lys missense_variant possibly damaging JHH6 Missense Mutation PKD1 chr16 2161292 2161292 G T g.2161292G>T ENST00000262304.4 c.3876C>A p.Phe1292Leu missense_variant probably damaging JHH6 Missense Mutation AQP8 chr16 25239773 25239773 T C g.25239773T>C ENST00000219660.5 c.746T>C p.Ile249Thr missense_variant possibly damaging JHH6 Missense Mutation THOC6 chr16 3075975 3075975 T C g.3075975T>C ENST00000253952.9 c.206T>C p.Val69Ala missense_variant benign JHH6 Missense Mutation ZSCAN10 chr16 3141571 3141571 C G g.3141571C>G ENST00000252463.2 c.592G>C p.Glu198Gln missense_variant benign JHH6 Missense Mutation AXIN1 chr16 397011 397011 C A g.397011C>A ENST00000262320.3 c.15G>T p.Glu5Asp missense_variant benign JHH6 Missense Mutation SPATA31C2 chr9 90747440 90747440 A G g.90747440A>G NM_001166137.1 c.512T>C p.Leu171Pro missense_variant probably damaging JHH6 Missense Mutation TSNAXIP1 chr16 67848276 67848276 G A g.67848276G>A ENST00000415766.3 c.119G>A p.R40H missense_variant benign JHH6 Missense Mutation HYDIN chr16 70989433 70989433 A G g.70989433A>G ENST00000393567.2 c.6161T>C p.Val2054Ala missense_variant benign JHH6 Missense Mutation CHST5 chr16 75563423 75563423 C T g.75563423C>T ENST00000336257.3 c.860G>A p.Arg287His missense_variant probably damaging JHH6 Missense Mutation CENPN chr16 81066193 81066193 A G g.81066193A>G ENST00000393335.3 c.956A>G p.Gln319Arg missense_variant damaging JHH6 Missense Mutation TSR1 chr17 2232751 2232751 C A g.2232751C>A ENST00000301364.5 c.1789G>T p.Val597Leu missense_variant benign JHH6 Missense Mutation ATAD5 chr17 29161961 29161961 T A g.29161961T>A ENST00000321990.4 c.862T>A p.Ser288Thr missense_variant benign JHH6 Missense Mutation NF1 chr17 29585375 29585375 G A g.29585375G>A ENST00000358273.4 c.4187G>A p.Arg1396His missense_variant probably damaging JHH6 Missense Mutation NF1 chr17 29585423 29585423 G C g.29585423G>C ENST00000358273.4 c.4235G>C p.Arg1412Thr missense_variant probably damaging JHH6 Missense Mutation MYO1D chr17 31094761 31094761 T G g.31094761T>G ENST00000318217.5 c.724A>C p.Asn242His missense_variant benign JHH6 Missense Mutation KRTAP4-16P chr17 39258214 39258214 C T g.39258214C>T ENST00000440582.1 c.248G>A p.C83Y missense_variant NA JHH6 Missense Mutation SPPL2C chr17 43924163 43924163 A G g.43924163A>G ENST00000329196.5 c.1891A>G p.Met631Val missense_variant benign JHH6 Missense Mutation MRPL10 chr17 45904443 45904443 C T g.45904443C>T ENST00000351111.2 c.350G>A p.Arg117Gln missense_variant probably damaging JHH6 Missense Mutation CHRNE chr17 4802640 4802640 G A g.4802640G>A ENST00000293780.4 c.1072C>T p.Pro358Ser missense_variant benign JHH6 Missense Mutation CACNA1G chr17 48676795 48676795 G T g.48676795G>T ENST00000359106.5 c.3265G>T p.Ala1089Ser missense_variant benign JHH6 Missense Mutation ABCC3 chr17 48762173 48762173 C T g.48762173C>T ENST00000285238.8 c.4217C>T p.Thr1406Met missense_variant benign JHH6 Missense Mutation KPNA2 chr17 66042689 66042689 G A g.66042689G>A ENST00000330459.3 c.1567G>A p.Ala523Thr missense_variant benign JHH6 Missense Mutation ABCA8 chr17 66920993 66920993 G C g.66920993G>C ENST00000269080.2 c.1291C>G p.Arg431Gly missense_variant benign JHH6 Missense Mutation ITGB4 chr17 73747084 73747084 A G g.73747084A>G ENST00000200181.3 c.3685A>G p.Asn1229Asp missense_variant possibly damaging JHH6 Missense Mutation NPTX1 chr17 78450174 78450174 A T g.78450174A>T ENST00000306773.4 c.73T>A p.Phe25Ile missense_variant possibly damaging JHH6 Missense Mutation PFAS chr17 8157592 8157592 A G g.8157592A>G ENST00000314666.6 c.251A>G p.Asn84Ser missense_variant benign JHH6 Missense Mutation CCBE1 chr18 57147425 57147425 G C g.57147425G>C ENST00000439986.4 c.258C>G p.Ile86Met missense_variant benign JHH6 Missense Mutation CNDP2 chr18 72186256 72186256 C T g.72186256C>T ENST00000324262.4 c.1283C>T p.Thr428Met missense_variant probably damaging JHH6 Missense Mutation ANKRD12 chr18 9255558 9255558 G A g.9255558G>A ENST00000262126.4 c.2293G>A p.Glu765Lys missense_variant possibly damaging JHH6 Missense Mutation TCF3 chr19 1615316 1615316 G A g.1615316G>A ENST00000262965.5 c.1790C>T p.Ser597Leu missense_variant benign JHH6 Missense Mutation NCLN chr19 3207454 3207454 A T g.3207454A>T ENST00000246117.4 c.1619A>T p.Tyr540Phe missense_variant probably damaging JHH6 Missense Mutation ZNF507 chr19 32845370 32845370 C T g.32845370C>T ENST00000311921.4 c.1634C>T p.Ser545Leu missense_variant benign JHH6 Missense Mutation ZNF260 chr19 37005323 37005323 T C g.37005323T>C ENST00000523638.1 c.818A>G p.Glu273Gly missense_variant probably damaging JHH6 Missense Mutation RASGRP4 chr19 38905715 38905715 G A g.38905715G>A ENST00000587738.1 c.1003C>T p.Arg335Cys missense_variant benign JHH6 Missense Mutation ITPKC chr19 41231317 41231317 C T g.41231317C>T ENST00000263370.2 c.1228C>T p.Pro410Ser missense_variant possibly damaging JHH6 Missense Mutation ZNF225 chr19 44636487 44636487 G A g.44636487G>A ENST00000262894.6 c.1720G>A p.Gly574Arg missense_variant probably damaging JHH6 Missense Mutation SLC6A16 chr19 49793624 49793624 G T g.49793624G>T ENST00000335875.4 c.1967C>A p.Pro656Gln missense_variant probably damaging JHH6 Missense Mutation PRRG2 chr19 50086942 50086942 G A g.50086942G>A ENST00000246794.5 c.229G>A p.Ala77Thr missense_variant probably damaging JHH6 Missense Mutation CTU1 chr19 51601869 51601869 G A g.51601869G>A ENST00000421832.2 c.1036C>T p.Pro346Ser missense_variant benign JHH6 Missense Mutation EPN1 chr19 56200266 56200266 C A g.56200266C>A ENST00000085079.7 c.509C>A p.Pro170His missense_variant probably damaging JHH6 Missense Mutation ZNF550 chr19 58064084 58064084 C T g.58064084C>T ENST00000376230.3 c.161G>A p.R54Q missense_variant,NMD_transcript_variant NA JHH6 Missense Mutation MAP2K7 chr19 7977276 7977276 G C g.7977276G>C ENST00000397979.3 c.1220G>C p.Ser407Thr missense_variant possibly damaging JHH6 Missense Mutation AFF3 chr2 100209752 100209752 C T g.100209752C>T ENST00000317233.4 c.2371G>A p.Ala791Thr missense_variant benign JHH6 Missense Mutation TGFBRAP1 chr2 105885902 105885902 C T g.105885902C>T ENST00000258449.1 c.2233G>A p.Ala745Thr missense_variant benign JHH6 Missense Mutation NCKAP5 chr2 133483296 133483296 C T g.133483296C>T ENST00000317721.6 c.5617G>A p.Gly1873Ser missense_variant benign JHH6 Missense Mutation MGAT5 chr2 135028082 135028082 G T g.135028082G>T ENST00000281923.2 c.367G>T p.Val123Phe missense_variant benign JHH6 Missense Mutation LRP1B chr2 140990837 140990837 C T g.140990837C>T ENST00000389484.3 c.13718G>A p.Arg4573Gln missense_variant possibly damaging JHH6 Missense Mutation NBAS chr2 15523409 15523409 G A g.15523409G>A ENST00000281513.5 c.3290C>T p.Thr1097Met missense_variant benign JHH6 Missense Mutation COBLL1 chr2 165551281 165551281 C G g.165551281C>G ENST00000342193.4 c.2735G>C p.Arg912Thr missense_variant probably damaging JHH6 Missense Mutation ANKRD44 chr2 197870621 197870621 T C g.197870621T>C NM_001195144.1 c.2144A>G p.His690Arg missense_variant benign JHH6 Missense Mutation NRP2 chr2 206587321 206587321 A T g.206587321A>T ENST00000272849.3 c.553A>T p.Met185Leu missense_variant benign JHH6 Missense Mutation ZDBF2 chr2 207170947 207170947 G T g.207170947G>T ENST00000374423.3 c.1695G>T p.Lys565Asn missense_variant probably damaging JHH6 Missense Mutation APOB chr2 21227212 21227212 C T g.21227212C>T ENST00000233242.1 c.12016G>A p.Val4006Ile missense_variant benign JHH6 Missense Mutation MARCH4 chr2 217234886 217234886 C T g.217234886C>T ENST00000273067.4 c.98G>A p.Arg33His missense_variant benign JHH6 Missense Mutation GPBAR1 chr2 219127574 219127574 C T g.219127574C>T ENST00000479077.1 c.127C>T p.Arg43Cys missense_variant probably damaging JHH6 Missense Mutation ABCB6 chr2 220077972 220077972 T C g.220077972T>C ENST00000265316.3 c.1796A>G p.Tyr599Cys missense_variant probably damaging JHH6 Missense Mutation SGPP2 chr2 223289488 223289488 G A g.223289488G>A ENST00000321276.7 c.167G>A p.Gly56Asp missense_variant benign JHH6 Missense Mutation CENPA chr2 27015104 27015104 G T g.27015104G>T ENST00000233505.8 c.206G>T p.Arg69Leu missense_variant possibly damaging JHH6 Missense Mutation BOLA3 chr2 74362748 74362748 C T g.74362748C>T ENST00000327428.5 c.296G>A p.Arg99Gln missense_variant probably damaging JHH6 Missense Mutation DCTN1 chr2 74598296 74598296 T C g.74598296T>C ENST00000361874.3 c.653A>G p.Glu218Gly missense_variant probably damaging JHH6 Missense Mutation FAM178B chr2 97633341 97633341 C T g.97633341C>T ENST00000490605.2 c.650G>A p.Arg217Gln missense_variant benign JHH6 Missense Mutation DEFB129 chr20 210172 210172 A C g.210172A>C ENST00000246105.4 c.312A>C p.Gln104His missense_variant possibly damaging JHH6 Missense Mutation BCL2L1 chr20 30309859 30309859 G A g.30309859G>A ENST00000307677.4 c.163C>T p.Pro55Ser missense_variant benign JHH6 Missense Mutation PHF20 chr20 34487426 34487426 A G g.34487426A>G ENST00000339089.6 c.1417A>G p.Met473Val missense_variant benign JHH6 Missense Mutation SIGLEC1 chr20 3675469 3675469 G T g.3675469G>T ENST00000202578.4 c.2785C>A p.Arg929Ser missense_variant benign JHH6 Missense Mutation ZSWIM3 chr20 44507112 44507112 G A g.44507112G>A ENST00000255152.2 c.1915G>A p.Glu639Lys missense_variant possibly damaging JHH6 Missense Mutation PLTP chr20 44527617 44527617 G A g.44527617G>A ENST00000372431.3 c.1445C>T p.Ala482Val missense_variant benign JHH6 Missense Mutation NCOA3 chr20 46281213 46281213 C T g.46281213C>T ENST00000371998.3 c.4010C>T p.Ser1337Leu missense_variant probably damaging JHH6 Missense Mutation FAM65C chr20 49247309 49247309 C T g.49247309C>T ENST00000045083.2 c.76G>A p.Ala26Thr missense_variant possibly damaging JHH6 Missense Mutation CDH4 chr20 60469994 60469994 A G g.60469994A>G ENST00000360469.5 c.1079A>G p.Gln360Arg missense_variant probably damaging JHH6 Missense Mutation COL20A1 chr20 61945098 61945098 C A g.61945098C>A ENST00000326996.6 c.2213C>A p.Thr738Lys missense_variant benign JHH6 Missense Mutation SLC52A3 chr20 744347 744347 C G g.744347C>G ENST00000217254.7 c.868G>C p.Glu290Gln missense_variant possibly damaging JHH6 Missense Mutation TPTE chr21 10971322 10971322 C A g.10971322C>A ENST00000298232.7 c.35G>T p.Gly12Val missense_variant benign JHH6 Missense Mutation FOLH1B chr11 89431694 89431694 A G g.89431694A>G NM_153696.2 c.1256A>G p.Asp419Gly missense_variant benign JHH6 Missense Mutation ZBTB21 chr21 43411521 43411521 G C g.43411521G>C ENST00000310826.5 c.2684C>G p.Thr895Arg missense_variant benign JHH6 Missense Mutation MICAL3 chr22 18368651 18368651 C T g.18368651C>T ENST00000207726.7 c.2234G>A p.Arg745Gln missense_variant possibly damaging JHH6 Missense Mutation ZNF280A chr22 22869716 22869716 C T g.22869716C>T ENST00000302097.3 c.239G>A p.Arg80His missense_variant benign JHH6 Missense Mutation FAM211B chr22 24985872 24985872 C T g.24985872C>T ENST00000318753.8 c.223G>A p.Asp75Asn missense_variant benign JHH6 Missense Mutation IMPG2 chr3 100963593 100963593 T C g.100963593T>C ENST00000193391.7 c.1582A>G p.Ile528Val missense_variant benign JHH6 Missense Mutation CD200 chr3 112066635 112066635 C T g.112066635C>T ENST00000315711.8 c.652C>T p.His218Tyr missense_variant benign JHH6 Missense Mutation VWA5B2 chr3 183956588 183956588 G A g.183956588G>A ENST00000426955.2 c.2129G>A p.Arg710His missense_variant probably damaging JHH6 Missense Mutation MUC4 chr3 195516052 195516052 G A g.195516052G>A ENST00000462323.1 c.2399C>T p.Ala800Val missense_variant,NMD_transcript_variant benign JHH6 Missense Mutation ZNF445 chr3 44490144 44490144 C A g.44490144C>A ENST00000396077.2 c.1019G>T p.Cys340Phe missense_variant possibly damaging JHH6 Missense Mutation COL7A1 chr3 48624470 48624470 C T g.48624470C>T ENST00000328333.8 c.3211G>A p.Ala1071Thr missense_variant benign JHH6 Missense Mutation RNF123 chr3 49751224 49751224 T A g.49751224T>A ENST00000327697.6 c.2803T>A p.Ser935Thr missense_variant probably damaging JHH6 Missense Mutation UBA7 chr3 49851208 49851208 C T g.49851208C>T ENST00000333486.3 c.13G>A p.Asp5Asn missense_variant benign JHH6 Missense Mutation RRP9 chr3 51967583 51967583 C G g.51967583C>G ENST00000232888.6 c.1367G>C p.Arg456Pro missense_variant probably damaging JHH6 Missense Mutation RFT1 chr3 53126518 53126518 C T g.53126518C>T ENST00000296292.3 c.1325G>A p.Arg442Gln missense_variant probably damaging JHH6 Missense Mutation GBE1 chr3 81630374 81630374 G A g.81630374G>A ENST00000429644.2 c.1388C>T p.Thr463Met missense_variant probably damaging JHH6 Missense Mutation OR5K3 chr3 98110335 98110335 T C g.98110335T>C ENST00000383695.1 c.826T>C p.Tyr276His missense_variant probably damaging JHH6 Missense Mutation FILIP1L chr3 99567585 99567585 C T g.99567585C>T ENST00000331335.5 c.2935G>A p.Ala979Thr missense_variant benign JHH6 Missense Mutation TET2 chr4 106157066 106157066 C G g.106157066C>G ENST00000265149.5 c.1967C>G p.Pro656Arg missense_variant,NMD_transcript_variant benign JHH6 Missense Mutation SLC25A31 chr4 128688250 128688250 G A g.128688250G>A ENST00000281154.4 c.508G>A p.Gly170Ser missense_variant benign JHH6 Missense Mutation PROM1 chr4 16010674 16010674 A G g.16010674A>G ENST00000447510.2 c.1199T>C p.Leu400Pro missense_variant probably damaging JHH6 Missense Mutation N4BP2 chr4 40127852 40127852 A G g.40127852A>G ENST00000261435.6 c.4429A>G p.Met1477Val missense_variant benign JHH6 Missense Mutation FRYL chr4 48549627 48549627 A C g.48549627A>C ENST00000358350.4 c.5048T>G p.Val1683Gly missense_variant benign JHH6 Missense Mutation LPHN3 chr4 62758505 62758505 C T g.62758505C>T ENST00000504896.1 c.1408C>T p.Pro470Ser missense_variant benign JHH6 Missense Mutation PAM chr5 102309884 102309884 A C g.102309884A>C ENST00000304400.7 c.1227A>C p.Lys409Asn missense_variant possibly damaging JHH6 Missense Mutation CCT5 chr5 10263414 10263414 A G g.10263414A>G ENST00000280326.4 c.1486A>G p.Lys496Glu missense_variant benign JHH6 Missense Mutation ZNF474 chr5 121488608 121488608 C T g.121488608C>T ENST00000296600.4 c.923C>T p.Thr308Ile missense_variant benign JHH6 Missense Mutation SLC6A19 chr5 1221997 1221997 T C g.1221997T>C ENST00000304460.10 c.1883T>C p.Met628Thr missense_variant benign JHH6 Missense Mutation ZNF608 chr5 123979287 123979287 C T g.123979287C>T ENST00000306315.5 c.4213G>A p.Val1405Ile missense_variant benign JHH6 Missense Mutation FNIP1 chr5 131055103 131055103 C T g.131055103C>T ENST00000307968.7 c.362G>A p.Arg121Gln missense_variant damaging JHH6 Missense Mutation SLC22A4 chr5 131647900 131647900 C T g.131647900C>T ENST00000200652.3 c.440C>T p.Ser147Phe missense_variant probably damaging JHH6 Missense Mutation KIF3A chr5 132038357 132038357 C G g.132038357C>G ENST00000378746.4 c.1570G>C p.Glu524Gln missense_variant probably damaging JHH6 Missense Mutation AFF4 chr5 132228001 132228001 C T g.132228001C>T ENST00000265343.5 c.2492G>A p.Arg831Gln missense_variant probably damaging JHH6 Missense Mutation SEC24A chr5 134041022 134041022 A G g.134041022A>G ENST00000398844.2 c.2446A>G p.Arg816Gly missense_variant probably damaging JHH6 Missense Mutation KIF20A chr5 137517326 137517326 C T g.137517326C>T ENST00000394894.3 c.284C>T p.Thr95Ile missense_variant probably damaging JHH6 Missense Mutation SLC35A4 chr5 139947389 139947389 G A g.139947389G>A ENST00000323146.3 c.635G>A p.Arg212Gln missense_variant probably damaging JHH6 Missense Mutation PCDHB8 chr5 140557626 140557626 G A g.140557626G>A ENST00000239444.2 c.11G>A p.Ser4Asn missense_variant benign JHH6 Missense Mutation PCDHGB1 chr5 140731437 140731437 C T g.140731437C>T ENST00000523390.1 c.1610C>T p.Ala537Val missense_variant benign JHH6 Missense Mutation SPINK5 chr5 147488326 147488326 G A g.147488326G>A ENST00000256084.7 c.1618G>A p.Glu540Lys missense_variant probably damaging JHH6 Missense Mutation GALNT10 chr5 153760020 153760020 G A g.153760020G>A ENST00000297107.6 c.767G>A p.Arg256Gln missense_variant benign JHH6 Missense Mutation C5orf54 chr5 159821437 159821437 A C g.159821437A>C ENST00000408953.3 c.1061T>G p.Leu354Arg missense_variant probably damaging JHH6 Missense Mutation HMMR chr5 162909703 162909703 T G g.162909703T>G ENST00000358715.3 c.1438T>G p.Leu480Val missense_variant benign JHH6 Missense Mutation NEURL1B chr5 172110465 172110465 G C g.172110465G>C ENST00000369800.5 c.621G>C p.Gln207His missense_variant benign JHH6 Missense Mutation CPLX2 chr5 175306967 175306967 G T g.175306967G>T ENST00000359546.4 c.324G>T p.Glu108Asp missense_variant benign JHH6 Missense Mutation NSD1 chr5 176562495 176562495 T A g.176562495T>A ENST00000361032.4 c.391T>A p.Ser131Thr missense_variant benign JHH6 Missense Mutation DBN1 chr5 176885285 176885285 G A g.176885285G>A ENST00000309007.5 c.1550C>T p.Pro517Leu missense_variant benign JHH6 Missense Mutation CCDC127 chr5 205513 205513 G A g.205513G>A ENST00000296824.3 c.682C>T p.Arg228Cys missense_variant benign JHH6 Missense Mutation C5orf42 chr5 37169027 37169027 T C g.37169027T>C ENST00000425232.2 c.7099A>G p.Lys2367Glu missense_variant possibly damaging JHH6 Missense Mutation LIFR chr5 38484889 38484889 C T g.38484889C>T ENST00000263409.4 c.2579G>A p.Arg860Gln missense_variant possibly damaging JHH6 Missense Mutation DHX29 chr5 54569156 54569156 C T g.54569156C>T ENST00000251636.5 c.2740G>A p.Ala914Thr missense_variant benign JHH6 Missense Mutation MAST4 chr5 66398371 66398371 C T g.66398371C>T ENST00000403625.2 c.1078C>T p.Arg360Cys missense_variant probably damaging JHH6 Missense Mutation IQGAP2 chr5 75996951 75996951 C T g.75996951C>T ENST00000274364.6 c.4418C>T p.Ala1473Val missense_variant benign JHH6 Missense Mutation SOBP chr6 107954888 107954888 C A g.107954888C>A ENST00000317357.5 c.840C>A p.His280Gln missense_variant probably damaging JHH6 Missense Mutation PKIB chr6 123039019 123039019 G A g.123039019G>A ENST00000354275.2 c.80G>A p.Arg27Gln missense_variant probably damaging JHH6 Missense Mutation TRMT11 chr6 126320717 126320717 G A g.126320717G>A ENST00000334379.5 c.637G>A p.Val213Met missense_variant probably damaging JHH6 Missense Mutation AHI1 chr6 135749823 135749823 G C g.135749823G>C ENST00000265602.6 c.2567C>G p.Thr856Ser missense_variant benign JHH6 Missense Mutation NHSL1 chr6 138752979 138752979 T C g.138752979T>C ENST00000427025.2 c.2515A>G p.Lys839Glu missense_variant probably damaging JHH6 Missense Mutation PDE10A chr6 165832214 165832214 C A g.165832214C>A ENST00000539869.2 c.907G>T p.Asp303Tyr missense_variant probably damaging JHH6 Missense Mutation FAM120B chr6 170627901 170627901 A G g.170627901A>G ENST00000476287.1 c.1423A>G p.Met475Val missense_variant benign JHH6 Missense Mutation GPLD1 chr6 24447177 24447177 G A g.24447177G>A ENST00000230036.1 c.1709C>T p.Thr570Met missense_variant benign JHH6 Missense Mutation HIST1H4G chr6 26247034 26247034 C G g.26247034C>G ENST00000244537.4 c.172G>C p.Val58Leu missense_variant benign JHH6 Missense Mutation MUC22 chr6 30993825 30993825 C G g.30993825C>G ENST00000561890.1 c.617C>G p.Thr206Ser missense_variant benign JHH6 Missense Mutation ZNF76 chr6 35260345 35260345 G A g.35260345G>A ENST00000339411.5 c.946G>A p.Val316Ile missense_variant possibly damaging JHH6 Missense Mutation CDKN1A chr6 36652302 36652302 C T g.36652302C>T ENST00000244741.5 c.424C>T p.Arg142Trp missense_variant probably damaging JHH6 Missense Mutation KIF6 chr6 39311521 39311521 A T g.39311521A>T ENST00000287152.7 c.2392T>A p.Phe798Ile missense_variant probably damaging JHH6 Missense Mutation GLTSCR1L chr6 42796354 42796354 C T g.42796354C>T ENST00000314073.5 c.283C>T p.Pro95Ser missense_variant possibly damaging JHH6 Missense Mutation RRP36 chr6 42996838 42996838 C T g.42996838C>T ENST00000244496.5 c.652C>T p.Arg218Cys missense_variant probably damaging JHH6 Missense Mutation DOPEY1 chr6 83849731 83849731 G A g.83849731G>A ENST00000349129.2 c.5133G>A p.Met1711Ile missense_variant benign JHH6 Missense Mutation ZNF292 chr6 87970390 87970390 T G g.87970390T>G ENST00000369577.3 c.7043T>G p.Ile2348Ser missense_variant benign JHH6 Missense Mutation PM20D2 chr6 89871944 89871944 A C g.89871944A>C ENST00000275072.4 c.1273A>C p.Lys425Gln missense_variant benign JHH6 Missense Mutation BACH2 chr6 90642321 90642321 C T g.90642321C>T ENST00000257749.4 c.2332G>A p.Gly778Arg missense_variant probably damaging JHH6 Missense Mutation UFL1 chr6 96997607 96997607 C T g.96997607C>T ENST00000369278.4 c.1750C>T p.Leu584Phe missense_variant probably damaging JHH6 Missense Mutation MUC17 chr7 100680251 100680251 G A g.100680251G>A ENST00000306151.4 c.5554G>A p.Ala1852Thr missense_variant benign JHH6 Missense Mutation FBXL13 chr7 102604019 102604019 G A g.102604019G>A ENST00000313221.4 c.685C>T p.Arg229Cys missense_variant benign JHH6 Missense Mutation RELN chr7 103183296 103183296 T A g.103183296T>A ENST00000343529.5 c.6553A>T p.Met2185Leu missense_variant benign JHH6 Missense Mutation PNPLA8 chr7 108155878 108155878 C T g.108155878C>T ENST00000257694.8 c.58G>A p.Val20Ile missense_variant benign JHH6 Missense Mutation PPP1R3A chr7 113522126 113522126 C T g.113522126C>T ENST00000284601.3 c.934G>A p.Asp312Asn missense_variant possibly damaging JHH6 Missense Mutation FAM71F1 chr7 128356893 128356893 C T g.128356893C>T ENST00000485070.1 c.40C>T p.Arg14Cys missense_variant probably damaging JHH6 Missense Mutation C7orf49 chr7 134853511 134853511 G T g.134853511G>T NM_001243749.1 c.164C>A p.Pro55His missense_variant NA JHH6 Missense Mutation DGKB chr7 14188788 14188788 C T g.14188788C>T ENST00000258767.5 c.2383G>A p.Val795Ile missense_variant benign JHH6 Missense Mutation TRPV5 chr7 142622797 142622797 C T g.142622797C>T ENST00000265310.1 c.949G>A p.Val317Met missense_variant probably damaging JHH6 Missense Mutation TMUB1 chr7 150779481 150779481 G A g.150779481G>A ENST00000297533.4 c.170C>T p.Ala57Val missense_variant benign JHH6 Missense Mutation ASB10 chr7 150883992 150883992 C A g.150883992C>A ENST00000275838.1 c.226G>T p.Asp76Tyr missense_variant damaging JHH6 Missense Mutation FAM20C chr7 195601 195601 C T g.195601C>T ENST00000313766.5 c.653C>T p.Ala218Val missense_variant benign JHH6 Missense Mutation FTSJ2 chr7 2279174 2279174 C A g.2279174C>A ENST00000242257.8 c.177G>T p.Lys59Asn missense_variant probably damaging JHH6 Missense Mutation NOD1 chr7 30490925 30490925 G T g.30490925G>T ENST00000222823.4 c.2108C>A p.Pro703His missense_variant benign JHH6 Missense Mutation TAAR9 chr6 132859541 132859541 T C g.132859541T>C ENST00000434551.1 c.113T>C p.Val38Ala missense_variant benign JHH6 Missense Mutation CDK13 chr7 39990518 39990518 C T g.39990518C>T ENST00000181839.4 c.278C>T p.Ala93Val missense_variant possibly damaging JHH6 Missense Mutation ZNF679 chr7 63721221 63721221 T A g.63721221T>A ENST00000255746.4 c.176T>A p.Val59Asp missense_variant benign JHH6 Missense Mutation ERV3-1 chr7 64451606 64451606 T C g.64451606T>C ENST00000394323.2 c.1799A>G p.Gln600Arg missense_variant possibly damaging JHH6 Missense Mutation GRID2IP chr7 6591048 6591048 G A g.6591048G>A ENST00000457091.2 c.20C>T p.Pro7Leu missense_variant benign JHH6 Missense Mutation TBL2 chr7 72985103 72985103 G A g.72985103G>A ENST00000305632.5 c.1078C>T p.Arg360Trp missense_variant probably damaging JHH6 Missense Mutation CLIP2 chr7 73791051 73791051 G A g.73791051G>A ENST00000223398.6 c.2320G>A p.Ala774Thr missense_variant benign JHH6 Missense Mutation PCLO chr7 82784534 82784534 C T g.82784534C>T ENST00000333891.9 c.1423G>A p.Gly475Ser missense_variant benign JHH6 Missense Mutation PON1 chr7 94940879 94940879 C A g.94940879C>A ENST00000222381.3 c.381G>T p.Met127Ile missense_variant benign JHH6 Missense Mutation DLX6 chr7 96635719 96635719 G T g.96635719G>T ENST00000518156.2 c.430G>T p.Asp144Tyr missense_variant possibly damaging JHH6 Missense Mutation LMTK2 chr7 97823651 97823651 G A g.97823651G>A ENST00000297293.5 c.3874G>A p.Asp1292Asn missense_variant probably damaging JHH6 Missense Mutation RP1L1 chr8 10467581 10467581 C T g.10467581C>T ENST00000382483.3 c.4027G>A p.Glu1343Lys missense_variant benign JHH6 Missense Mutation TSNARE1 chr8 143427128 143427128 T C g.143427128T>C ENST00000307180.3 c.214A>G p.Ile72Val missense_variant benign JHH6 Missense Mutation UNC5D chr8 35608311 35608311 C A g.35608311C>A ENST00000404895.2 c.2147C>A p.Thr716Asn missense_variant probably damaging JHH6 Missense Mutation SNTG1 chr8 51449245 51449245 T C g.51449245T>C ENST00000276467.5 c.557T>C p.Leu186Ser missense_variant probably damaging JHH6 Missense Mutation PXDNL chr8 52321269 52321269 G A g.52321269G>A ENST00000356297.4 c.2915C>T p.Thr972Ile missense_variant probably damaging JHH6 Missense Mutation CHD7 chr8 61777748 61777748 T G g.61777748T>G ENST00000423902.2 c.8250T>G p.Phe2750Leu missense_variant benign JHH6 Missense Mutation CTNNAL1 chr9 111775629 111775629 T C g.111775629T>C ENST00000325551.4 c.94A>G p.Ile32Val missense_variant benign JHH6 Missense Mutation RAPGEF1 chr9 134455020 134455020 C T g.134455020C>T ENST00000372189.3 c.3098G>A p.Arg1033Gln missense_variant benign JHH6 Missense Mutation SURF2 chr9 136226915 136226915 G A g.136226915G>A ENST00000371964.4 c.427G>A p.Gly143Arg missense_variant benign JHH6 Missense Mutation UBAP2 chr9 33944624 33944624 T A g.33944624T>A ENST00000360802.1 c.1284A>T p.Gln428His missense_variant probably damaging JHH6 Missense Mutation RMI1 chr9 86616941 86616941 G A g.86616941G>A ENST00000325875.3 c.1040G>A p.Arg347Gln missense_variant benign JHH6 Missense Mutation BICD2 chr9 95481023 95481023 C T g.95481023C>T ENST00000356884.6 c.1904G>A p.Arg635His missense_variant probably damaging JHH6 Missense Mutation COL4A6 chrX 107417792 107417792 G A g.107417792G>A ENST00000372216.4 c.3019C>T p.Pro1007Ser missense_variant benign JHH6 Missense Mutation ZBTB33 chrX 119389224 119389224 A G g.119389224A>G ENST00000326624.2 c.1954A>G p.Ile652Val missense_variant benign JHH6 Missense Mutation ARHGAP36 chrX 130220600 130220600 C T g.130220600C>T ENST00000276211.5 c.1447C>T p.Arg483Trp missense_variant benign JHH6 Missense Mutation USP26 chrX 132161249 132161249 G C g.132161249G>C ENST00000370832.1 c.1000C>G p.Pro334Ala missense_variant probably damaging JHH6 Missense Mutation MAP7D3 chrX 135312700 135312700 G C g.135312700G>C ENST00000316077.9 c.1594C>G p.Gln532Glu missense_variant probably damaging JHH6 Missense Mutation ZC3H12B chrX 64718959 64718959 G T g.64718959G>T ENST00000338957.4 c.829G>T p.Val277Phe missense_variant probably damaging JHH7 Missense Mutation KIF1B chr1 10355737 10355737 G A g.10355737G>A ENST00000377081.1 c.1690G>A p.Glu564Lys missense_variant benign JHH7 Missense Mutation ADORA3 chr1 112045778 112045778 G T g.112045778G>T ENST00000241356.4 c.199C>A p.Pro67Thr missense_variant probably damaging JHH7 Missense Mutation SLC16A1 chr1 113460325 113460325 C G g.113460325C>G ENST00000369626.3 c.703G>C p.Gly235Arg missense_variant possibly damaging JHH7 Missense Mutation TNFRSF18 chr1 1141926 1141926 G A g.1141926G>A ENST00000328596.6 c.26C>T p.Ala9Val missense_variant benign JHH7 Missense Mutation HIPK1 chr1 114499274 114499274 G A g.114499274G>A ENST00000369554.2 c.1433G>A p.Gly478Glu missense_variant probably damaging JHH7 Missense Mutation TTF2 chr1 117635518 117635518 A G g.117635518A>G ENST00000369466.4 c.2971A>G p.Thr991Ala missense_variant possibly damaging JHH7 Missense Mutation SPAG17 chr1 118548200 118548200 A T g.118548200A>T ENST00000336338.5 c.4613T>A p.Leu1538His missense_variant probably damaging JHH7 Missense Mutation BCL9 chr1 147092314 147092314 C A g.147092314C>A ENST00000234739.3 c.2353C>A p.Leu785Ile missense_variant benign JHH7 Missense Mutation ACP6 chr1 147121998 147121998 C T g.147121998C>T ENST00000369238.6 c.925G>A p.Glu309Lys missense_variant benign JHH7 Missense Mutation FLG chr1 152280589 152280589 C T g.152280589C>T ENST00000368799.1 c.6773G>A p.Arg2258Lys missense_variant possibly damaging JHH7 Missense Mutation INTS3 chr1 153742707 153742707 A G g.153742707A>G ENST00000318967.2 c.2423A>G p.Tyr808Cys missense_variant probably damaging JHH7 Missense Mutation AQP10 chr1 154296786 154296786 G A g.154296786G>A ENST00000324978.3 c.736G>A p.Val246Met missense_variant possibly damaging JHH7 Missense Mutation RAB25 chr1 156038092 156038092 G A g.156038092G>A ENST00000361084.5 c.271G>A p.Val91Met missense_variant probably damaging JHH7 Missense Mutation SLC35E2B chr1 1599887 1599887 C T g.1599887C>T ENST00000234800.6 c.859G>A p.Gly287Arg missense_variant benign JHH7 Missense Mutation DUSP12 chr1 161726633 161726633 T C g.161726633T>C ENST00000367943.4 c.919T>C p.Cys307Arg missense_variant probably damaging JHH7 Missense Mutation TNR chr1 175293532 175293532 G C g.175293532G>C ENST00000263525.2 c.3917C>G p.Thr1306Ser missense_variant benign JHH7 Missense Mutation ASTN1 chr1 176998875 176998875 C A g.176998875C>A ENST00000361833.2 c.1015G>T p.Gly339Cys (Splice) missense_variant,splice_region_variant probably damaging JHH7 Missense Mutation TPR chr1 186321206 186321206 G A g.186321206G>A ENST00000367478.4 c.2371C>T p.Leu791Phe missense_variant probably damaging JHH7 Missense Mutation CFH chr1 196654257 196654257 G A g.196654257G>A ENST00000359637.2 c.662G>A p.Arg221Lys missense_variant probably damaging JHH7 Missense Mutation CFHR3 chr1 196748355 196748355 C G g.196748355C>G ENST00000367425.4 c.122C>G p.Pro41Arg missense_variant benign JHH7 Missense Mutation ASPM chr1 197062375 197062375 C T g.197062375C>T ENST00000367409.4 c.9101G>A p.Cys3034Tyr missense_variant probably damaging JHH7 Missense Mutation GPR25 chr1 200842661 200842661 G A g.200842661G>A ENST00000304244.2 c.496G>A p.Val166Met missense_variant probably damaging JHH7 Missense Mutation NAV1 chr1 201751876 201751876 G A g.201751876G>A ENST00000295624.6 c.2236G>A p.Val746Met missense_variant probably damaging JHH7 Missense Mutation RAB3GAP2 chr1 220383822 220383822 G C g.220383822G>C ENST00000358951.2 c.520C>G p.Leu174Val missense_variant probably damaging JHH7 Missense Mutation TLR5 chr1 223284519 223284519 C T g.223284519C>T ENST00000342210.6 c.1855G>A p.Val619Ile missense_variant benign JHH7 Missense Mutation TTC13 chr1 231051966 231051966 C T g.231051966C>T ENST00000366661.4 c.2066G>A p.Gly689Glu missense_variant probably damaging JHH7 Missense Mutation C1orf100 chr1 244552288 244552288 C A g.244552288C>A ENST00000308105.4 c.361C>A p.Pro121Thr missense_variant probably damaging JHH7 Missense Mutation C1orf101 chr1 244715794 244715794 G A g.244715794G>A ENST00000366533.4 c.707G>A p.Gly236Asp missense_variant probably damaging JHH7 Missense Mutation TRIM58 chr1 248039679 248039679 T C g.248039679T>C ENST00000366481.3 c.1349T>C p.Ile450Thr missense_variant benign JHH7 Missense Mutation OR2L3 chr1 248224840 248224840 C T g.248224840C>T ENST00000359959.3 c.857C>T p.Pro286Leu missense_variant possibly damaging JHH7 Missense Mutation EXTL1 chr1 26349243 26349243 C T g.26349243C>T ENST00000374280.3 c.106C>T p.Pro36Ser missense_variant benign JHH7 Missense Mutation WDTC1 chr1 27624514 27624514 A T g.27624514A>T ENST00000361771.3 c.1141A>T p.Ile381Phe missense_variant probably damaging JHH7 Missense Mutation BAI2 chr1 32208558 32208558 C T g.32208558C>T ENST00000257070.4 c.1133G>A p.Arg378His missense_variant probably damaging JHH7 Missense Mutation RLF chr1 40703810 40703810 A C g.40703810A>C ENST00000372771.4 c.3436A>C p.Met1146Leu missense_variant benign JHH7 Missense Mutation HIVEP3 chr1 42048628 42048628 G A g.42048628G>A ENST00000247584.5 c.1841C>T p.Ala614Val missense_variant benign JHH7 Missense Mutation CYP4A11 chr1 47399624 47399624 G T g.47399624G>T ENST00000310638.4 c.1216C>A p.Pro406Thr missense_variant probably damaging JHH7 Missense Mutation SPATA6 chr1 48865258 48865258 C G g.48865258C>G ENST00000371843.3 c.545G>C p.Arg182Thr missense_variant probably damaging JHH7 Missense Mutation PODN chr1 53532517 53532517 G A g.53532517G>A ENST00000371500.3 c.10G>A p.Glu4Lys missense_variant benign JHH7 Missense Mutation CYB5RL chr1 54649913 54649913 C T g.54649913C>T ENST00000287899.8 c.461G>A p.Arg154Gln missense_variant benign JHH7 Missense Mutation FAM151A chr1 55078333 55078333 C G g.55078333C>G ENST00000302250.2 c.626G>C p.Gly209Ala missense_variant probably damaging JHH7 Missense Mutation FAM151A chr1 55078334 55078334 C A g.55078334C>A ENST00000302250.2 c.625G>T p.Gly209Cys missense_variant probably damaging JHH7 Missense Mutation NPHP4 chr1 5927848 5927848 A G g.5927848A>G ENST00000378156.4 c.3424T>C p.Ser1142Pro missense_variant possibly damaging JHH7 Missense Mutation C1orf141 chr1 67558738 67558738 G C g.67558738G>C ENST00000371006.1 c.1153C>G p.P385A missense_variant probably damaging JHH7 Missense Mutation CAMTA1 chr1 7798423 7798423 C T g.7798423C>T ENST00000303635.7 c.4063C>T p.Pro1355Ser missense_variant benign JHH7 Missense Mutation FAM73A chr1 78329594 78329594 T C g.78329594T>C ENST00000370791.3 c.1390T>C p.Phe464Leu missense_variant probably damaging JHH7 Missense Mutation MCOLN3 chr1 85484931 85484931 G T g.85484931G>T ENST00000370589.2 c.1537C>A p.Gln513Lys missense_variant benign JHH7 Missense Mutation SYDE2 chr1 85655882 85655882 C G g.85655882C>G ENST00000341460.5 c.1299G>C p.Gln433His missense_variant benign JHH7 Missense Mutation SAMD11 chr1 879427 879427 C A g.879427C>A ENST00000342066.3 c.1940C>A p.Pro647His missense_variant probably damaging JHH7 Missense Mutation RBMXL1 chr1 89449184 89449184 A C g.89449184A>C ENST00000321792.5 c.326T>G p.Phe109Cys missense_variant benign JHH7 Missense Mutation ZNF644 chr1 91404982 91404982 T G g.91404982T>G ENST00000337393.5 c.1929A>C p.Leu643Phe missense_variant possibly damaging JHH7 Missense Mutation ABCA4 chr1 94543287 94543287 T C g.94543287T>C ENST00000370225.3 c.1513A>G p.Ile505Val missense_variant benign JHH7 Missense Mutation CUEDC2 chr10 104183926 104183926 C A g.104183926C>A ENST00000369937.4 c.421G>T p.Ala141Ser missense_variant benign JHH7 Missense Mutation PDCD11 chr10 105200510 105200510 C T g.105200510C>T ENST00000369797.3 c.4460C>T p.Pro1487Leu missense_variant benign JHH7 Missense Mutation CELF2 chr10 11370962 11370962 G A g.11370962G>A ENST00000379261.4 c.1473G>A p.Met491Ile missense_variant benign JHH7 Missense Mutation C10orf118 chr10 115890959 115890959 T G g.115890959T>G ENST00000369287.3 c.2048A>C p.Gln683Pro missense_variant probably damaging JHH7 Missense Mutation WDR11 chr10 122650283 122650283 A C g.122650283A>C ENST00000263461.6 c.2399A>C p.D800A missense_variant probably damaging JHH7 Missense Mutation MCM10 chr10 13246322 13246322 A T g.13246322A>T ENST00000484800.2 c.2459A>T p.Asn820Ile missense_variant probably damaging JHH7 Missense Mutation SVIL chr10 29747213 29747213 T C g.29747213T>C ENST00000355867.4 c.6608A>G p.Lys2203Arg missense_variant probably damaging JHH7 Missense Mutation HERC4 chr10 69832823 69832823 C T g.69832823C>T ENST00000373700.4 c.43G>A p.Gly15Ser missense_variant probably damaging JHH7 Missense Mutation PBLD chr10 70048272 70048272 G A g.70048272G>A ENST00000309049.4 c.659C>T p.Pro220Leu missense_variant probably damaging JHH7 Missense Mutation KCNMA1 chr10 78761234 78761234 C T g.78761234C>T ENST00000286628.8 c.2197G>A p.Asp733Asn missense_variant benign JHH7 Missense Mutation ANXA11 chr10 81917489 81917489 G A g.81917489G>A ENST00000265447.4 c.1366C>T p.Arg456Cys missense_variant probably damaging JHH7 Missense Mutation GRID1 chr10 87628781 87628781 G A g.87628781G>A ENST00000327946.7 c.937C>T p.Leu313Phe missense_variant probably damaging JHH7 Missense Mutation ZNF259 chr11 116658243 116658243 G C g.116658243G>C ENST00000227322.3 c.288C>G p.Ile96Met missense_variant probably damaging JHH7 Missense Mutation SCN3B chr11 123513271 123513271 C T g.123513271C>T ENST00000299333.3 c.328G>A p.Val110Ile missense_variant probably damaging JHH7 Missense Mutation OR4D5 chr11 123810754 123810754 T G g.123810754T>G ENST00000307033.2 c.431T>G p.Leu144Arg missense_variant probably damaging JHH7 Missense Mutation PUS3 chr11 125763902 125763902 C T g.125763902C>T ENST00000227474.3 c.1224G>A p.Met408Ile missense_variant benign JHH7 Missense Mutation PTH chr11 13513991 13513991 T A g.13513991T>A ENST00000282091.1 c.309A>T p.Lys103Asn missense_variant probably damaging JHH7 Missense Mutation ANO5 chr11 22261124 22261124 T A g.22261124T>A ENST00000324559.8 c.772T>A p.Trp258Arg missense_variant probably damaging JHH7 Missense Mutation OR5L2 chr11 55595336 55595336 C G g.55595336C>G ENST00000378397.1 c.642C>G p.Ile214Met missense_variant probably damaging JHH7 Missense Mutation OR52E8 chr11 5878241 5878241 A G g.5878241A>G ENST00000537935.1 c.692T>C p.Phe231Ser missense_variant possibly damaging JHH7 Missense Mutation PGA5 chr11 61018706 61018706 G A g.61018706G>A ENST00000312403.5 c.1120G>A p.Val374Ile missense_variant benign JHH7 Missense Mutation GANAB chr11 62406880 62406880 T C g.62406880T>C ENST00000346178.4 c.203A>G p.Gln68Arg missense_variant benign JHH7 Missense Mutation SLC25A45 chr11 65147396 65147396 G A g.65147396G>A ENST00000398802.1 c.95C>T p.Thr32Ile missense_variant probably damaging JHH7 Missense Mutation SCYL1 chr11 65293096 65293096 G A g.65293096G>A ENST00000270176.5 c.163G>A p.Glu55Lys missense_variant possibly damaging JHH7 Missense Mutation SIPA1 chr11 65416786 65416786 C T g.65416786C>T ENST00000394224.3 c.2360C>T p.Ala787Val missense_variant benign JHH7 Missense Mutation AP5B1 chr11 65546655 65546655 G A g.65546655G>A ENST00000532090.2 c.1309C>T p.Pro437Ser missense_variant possibly damaging JHH7 Missense Mutation DNHD1 chr11 6587844 6587844 T G g.6587844T>G ENST00000254579.6 c.11234T>G p.Leu3745Arg missense_variant probably damaging JHH7 Missense Mutation ZNF215 chr11 6977485 6977485 A C g.6977485A>C ENST00000278319.5 c.1277A>C p.Gln426Pro missense_variant probably damaging JHH7 Missense Mutation TENM4 chr11 78601010 78601010 C A g.78601010C>A ENST00000278550.7 c.904G>T p.Gly302Trp missense_variant probably damaging JHH7 Missense Mutation NLRP10 chr11 7985018 7985018 G T g.7985018G>T ENST00000328600.2 c.25C>A p.Pro9Thr missense_variant possibly damaging JHH7 Missense Mutation CLEC7A chr12 10280441 10280441 G A g.10280441G>A ENST00000298523.5 c.107C>T p.Ser36Leu missense_variant benign JHH7 Missense Mutation KNTC1 chr12 123014643 123014643 T A g.123014643T>A ENST00000333479.7 c.33T>A p.Asp11Glu missense_variant benign JHH7 Missense Mutation KNTC1 chr12 123022996 123022996 A G g.123022996A>G ENST00000333479.7 c.361A>G p.Thr121Ala missense_variant probably damaging JHH7 Missense Mutation PITPNM2 chr12 123481361 123481361 C A g.123481361C>A ENST00000280562.5 c.1569G>T p.Gln523His missense_variant benign JHH7 Missense Mutation TMEM132C chr12 129190677 129190677 A G g.129190677A>G ENST00000435159.2 c.3164A>G p.Lys1055Arg missense_variant benign JHH7 Missense Mutation APOLD1 chr12 12940369 12940369 G A g.12940369G>A ENST00000326765.6 c.623G>A p.Gly208Asp missense_variant probably damaging JHH7 Missense Mutation GSG1 chr12 13238022 13238022 C T g.13238022C>T ENST00000432710.2 c.833G>A p.Arg278Gln missense_variant benign JHH7 Missense Mutation FBRSL1 chr12 133158387 133158387 G A g.133158387G>A ENST00000434748.2 c.2102G>A p.Gly701Glu missense_variant probably damaging JHH7 Missense Mutation PTPRO chr12 15668479 15668479 G C g.15668479G>C ENST00000281171.4 c.1512G>C p.Gln504His missense_variant probably damaging JHH7 Missense Mutation WNT5B chr12 1742042 1742042 C T g.1742042C>T ENST00000310594.3 c.299C>T p.Ala100Val missense_variant benign JHH7 Missense Mutation C12orf77 chr12 25148933 25148933 A G g.25148933A>G ENST00000549828.1 c.215T>C p.Leu72Pro missense_variant benign JHH7 Missense Mutation YARS2 chr12 32906882 32906882 A G g.32906882A>G ENST00000324868.8 c.917T>C p.Phe306Ser missense_variant probably damaging JHH7 Missense Mutation MUC19 chr12 40834875 40834875 T G g.40834875T>G ENST00000454784.4 c.1882T>G p.C628G missense_variant NA JHH7 Missense Mutation IRAK4 chr12 44166772 44166772 G A g.44166772G>A ENST00000448290.2 c.548G>A p.Arg183Gln missense_variant benign JHH7 Missense Mutation SCAF11 chr12 46321736 46321736 T A g.46321736T>A ENST00000369367.3 c.1748A>T p.Lys583Ile missense_variant possibly damaging JHH7 Missense Mutation SLC38A1 chr12 46602840 46602840 T C g.46602840T>C ENST00000398637.5 c.385A>G p.Thr129Ala missense_variant possibly damaging JHH7 Missense Mutation DHH chr12 49483955 49483955 C G g.49483955C>G ENST00000266991.2 c.878G>C p.Arg293Pro missense_variant probably damaging JHH7 Missense Mutation LARP4 chr12 50847318 50847318 C T g.50847318C>T ENST00000293618.8 c.880C>T p.Pro294Ser missense_variant possibly damaging JHH7 Missense Mutation KRT6C chr12 52863198 52863198 C G g.52863198C>G ENST00000252250.6 c.1456G>C p.Val486Leu missense_variant benign JHH7 Missense Mutation KRT2 chr12 53044205 53044205 G C g.53044205G>C ENST00000309680.3 c.718C>G p.Leu240Val missense_variant benign JHH7 Missense Mutation MMP19 chr12 56230908 56230908 G A g.56230908G>A ENST00000322569.4 c.1439C>T p.Thr480Ile missense_variant benign JHH7 Missense Mutation GLI1 chr12 57865428 57865428 C G g.57865428C>G ENST00000228682.2 c.2905C>G p.Pro969Ala missense_variant benign JHH7 Missense Mutation ARHGAP9 chr12 57867938 57867938 C A g.57867938C>A ENST00000356411.2 c.1862G>T p.Ser621Ile missense_variant probably damaging JHH7 Missense Mutation ARHGAP9 chr12 57872937 57872937 C G g.57872937C>G ENST00000356411.2 c.253G>C p.Glu85Gln missense_variant probably damaging JHH7 Missense Mutation LEMD3 chr12 65632495 65632495 G A g.65632495G>A ENST00000308330.2 c.1822G>A p.Val608Met missense_variant probably damaging JHH7 Missense Mutation TMEM19 chr12 72080554 72080554 T C g.72080554T>C ENST00000266673.5 c.94T>C p.Phe32Leu missense_variant probably damaging JHH7 Missense Mutation A2M chr12 9256992 9256992 C T g.9256992C>T ENST00000318602.7 c.1109G>A p.Arg370His missense_variant probably damaging JHH7 Missense Mutation LIG4 chr13 108863331 108863331 A C g.108863331A>C ENST00000356922.4 c.286T>G p.Leu96Val missense_variant benign JHH7 Missense Mutation CHAMP1 chr13 115090089 115090089 G A g.115090089G>A ENST00000361283.1 c.772G>A p.Gly258Arg missense_variant benign JHH7 Missense Mutation SACS chr13 23909116 23909116 G A g.23909116G>A ENST00000382292.3 c.8899C>T p.Arg2967Cys missense_variant probably damaging JHH7 Missense Mutation USPL1 chr13 31195922 31195922 C T g.31195922C>T ENST00000255304.4 c.121C>T p.Pro41Ser missense_variant benign JHH7 Missense Mutation BRCA2 chr13 32907359 32907359 A C g.32907359A>C ENST00000380152.3 c.1744A>C p.Thr582Pro missense_variant probably damaging JHH7 Missense Mutation MAB21L1 chr13 36049629 36049629 T C g.36049629T>C ENST00000379919.4 c.647A>G p.His216Arg missense_variant benign JHH7 Missense Mutation TSC22D1 chr13 45147827 45147827 G A g.45147827G>A ENST00000458659.2 c.2384C>T p.Ser795Phe missense_variant benign JHH7 Missense Mutation CYSLTR2 chr13 49281061 49281061 C A g.49281061C>A ENST00000282018.3 c.108C>A p.Phe36Leu missense_variant probably damaging JHH7 Missense Mutation DIAPH3 chr13 60557957 60557957 C A g.60557957C>A ENST00000267215.4 c.1426G>T p.Asp476Tyr missense_variant probably damaging JHH7 Missense Mutation EDNRB chr13 78492501 78492501 C T g.78492501C>T ENST00000334286.5 c.208G>A p.Glu70Lys missense_variant benign JHH7 Missense Mutation HS6ST3 chr13 97485129 97485129 G C g.97485129G>C ENST00000376705.2 c.1093G>C p.Glu365Gln missense_variant probably damaging JHH7 Missense Mutation C14orf80 chr14 105964213 105964213 C T g.105964213C>T ENST00000392523.4 c.1057C>T p.Arg353Cys missense_variant benign JHH7 Missense Mutation C14orf80 chr14 105965046 105965046 C G g.105965046C>G ENST00000392523.4 c.1251C>G p.Cys417Trp missense_variant probably damaging JHH7 Missense Mutation SLC22A17 chr14 23816874 23816874 G T g.23816874G>T ENST00000206544.8 c.1011C>A p.Phe337Leu missense_variant possibly damaging JHH7 Missense Mutation PSME1 chr14 24606963 24606963 G A g.24606963G>A ENST00000206451.6 c.347G>A p.Arg116His missense_variant probably damaging JHH7 Missense Mutation DHRS1 chr14 24766000 24766000 G C g.24766000G>C ENST00000288111.7 c.238C>G p.Arg80Gly missense_variant benign JHH7 Missense Mutation EGLN3 chr14 34419822 34419822 C T g.34419822C>T ENST00000250457.3 c.137G>A p.Arg46His missense_variant benign JHH7 Missense Mutation PYGL chr14 51378745 51378745 T C g.51378745T>C ENST00000216392.7 c.1778A>G p.Lys593Arg missense_variant benign JHH7 Missense Mutation SIPA1L1 chr14 72138332 72138332 T C g.72138332T>C ENST00000358550.2 c.2752T>C p.Tyr918His missense_variant probably damaging JHH7 Missense Mutation SIPA1L1 chr14 72138346 72138346 A T g.72138346A>T ENST00000358550.2 c.2766A>T p.Glu922Asp missense_variant benign JHH7 Missense Mutation COQ6 chr14 74428448 74428448 A C g.74428448A>C ENST00000334571.2 c.1219A>C p.Ser407Arg missense_variant benign JHH7 Missense Mutation LTBP2 chr14 74989495 74989495 G T g.74989495G>T ENST00000261978.4 c.2657C>A p.Thr886Lys (Splice) missense_variant,splice_region_variant probably damaging JHH7 Missense Mutation GOLGA5 chr14 93299686 93299686 G A g.93299686G>A ENST00000163416.2 c.1939G>A p.Gly647Ser missense_variant benign JHH7 Missense Mutation SERPINA4 chr14 95030110 95030110 C G g.95030110C>G ENST00000298841.5 c.291C>G p.Ser97Arg missense_variant possibly damaging JHH7 Missense Mutation RP11-89K11.1 chr15 102284706 102284706 G A g.102284706G>A ENST00000558592.1 c.70C>T p.P24S missense_variant NA JHH7 Missense Mutation GABRG3 chr15 27222229 27222229 C A g.27222229C>A ENST00000333743.6 c.134C>A p.Thr45Asn missense_variant benign JHH7 Missense Mutation MTMR10 chr15 31233935 31233935 A G g.31233935A>G ENST00000435680.1 c.2072T>C p.Val691Ala missense_variant benign JHH7 Missense Mutation EHD4 chr15 42193073 42193073 A G g.42193073A>G ENST00000220325.4 c.1396T>C p.Ser466Pro missense_variant possibly damaging JHH7 Missense Mutation MAP1A chr15 43820881 43820881 G C g.43820881G>C ENST00000300231.5 c.7210G>C p.Asp2404His missense_variant possibly damaging JHH7 Missense Mutation RFX7 chr15 56387618 56387618 C A g.56387618C>A ENST00000317318.6 c.2308G>T p.Asp770Tyr missense_variant benign JHH7 Missense Mutation MAN2C1 chr15 75653424 75653424 G A g.75653424G>A ENST00000267978.5 c.1423C>T p.Arg475Cys missense_variant probably damaging JHH7 Missense Mutation SNUPN chr15 75899648 75899648 G A g.75899648G>A ENST00000308588.5 c.509C>T p.Thr170Ile missense_variant probably damaging JHH7 Missense Mutation AC016251.1 chr15 96831533 96831533 T A g.96831533T>A ENST00000378936.1 c.128A>T p.H43L missense_variant NA JHH7 Missense Mutation PTX4 chr16 1537647 1537647 G A g.1537647G>A ENST00000447419.2 c.466C>T p.R156C missense_variant probably damaging JHH7 Missense Mutation CRAMP1L chr16 1703060 1703060 C G g.1703060C>G ENST00000293925.5 c.940C>G p.Pro314Ala missense_variant probably damaging JHH7 Missense Mutation XYLT1 chr16 17202871 17202871 T G g.17202871T>G ENST00000261381.6 c.2561A>C p.Glu854Ala missense_variant possibly damaging JHH7 Missense Mutation ABCA3 chr16 2376112 2376112 G A g.2376112G>A ENST00000301732.5 c.218C>T p.Pro73Leu missense_variant benign JHH7 Missense Mutation CCDC113 chr16 58313629 58313629 G A g.58313629G>A ENST00000219299.4 c.1082G>A p.Arg361Gln missense_variant benign JHH7 Missense Mutation GINS3 chr16 58426633 58426633 T G g.58426633T>G ENST00000318129.5 c.128T>G p.Leu43Arg missense_variant probably damaging JHH7 Missense Mutation BEAN1 chr16 66514612 66514612 C G g.66514612C>G ENST00000536005.2 c.564C>G p.His188Gln missense_variant benign JHH7 Missense Mutation CES2 chr16 66973230 66973230 C T g.66973230C>T ENST00000317091.4 c.584C>T p.Pro195Leu missense_variant probably damaging JHH7 Missense Mutation RLTPR chr16 67683770 67683770 C A g.67683770C>A ENST00000334583.6 c.1981C>A p.Leu661Met missense_variant probably damaging JHH7 Missense Mutation CDH3 chr16 68679301 68679301 C T g.68679301C>T ENST00000264012.4 c.19C>T p.Pro7Ser missense_variant benign JHH7 Missense Mutation WDR90 chr16 710079 710079 C T g.710079C>T ENST00000293879.4 c.3206C>T p.Ser1069Leu missense_variant benign JHH7 Missense Mutation CMTR2 chr16 71318257 71318257 T C g.71318257T>C ENST00000338099.5 c.1567A>G p.Ile523Val missense_variant benign JHH7 Missense Mutation AP1G1 chr16 71773194 71773194 G C g.71773194G>C ENST00000299980.4 c.2050C>G p.Pro684Ala missense_variant benign JHH7 Missense Mutation HPR chr16 72110486 72110486 C T g.72110486C>T ENST00000356967.5 c.553C>T p.His185Tyr missense_variant benign JHH7 Missense Mutation HPR chr16 72110487 72110487 A C g.72110487A>C ENST00000356967.5 c.554A>C p.His185Pro missense_variant benign JHH7 Missense Mutation CCDC78 chr16 774121 774121 G T g.774121G>T ENST00000293889.6 c.1038C>A p.Ser346Arg missense_variant benign JHH7 Missense Mutation SUPT20HL2 chrX 24329772 24329772 G T g.24329772G>T NM_001136233.1 c.1661C>A p.Pro554His missense_variant possibly damaging JHH7 Missense Mutation SUPT20HL2 chrX 24329773 24329773 G T g.24329773G>T NM_001136233.1 c.1660C>A p.Pro554Thr missense_variant benign JHH7 Missense Mutation ABAT chr16 8875261 8875261 A C g.8875261A>C ENST00000268251.8 c.1477A>C p.Ser493Arg missense_variant benign JHH7 Missense Mutation SLC22A31 chr16 89267860 89267860 G T g.89267860G>T ENST00000562855.2 c.213C>A p.D71E missense_variant NA JHH7 Missense Mutation NCOR1 chr17 15968277 15968277 T A g.15968277T>A ENST00000268712.3 c.5008A>T p.Thr1670Ser missense_variant possibly damaging JHH7 Missense Mutation TRPV2 chr17 16323461 16323461 G A g.16323461G>A ENST00000338560.7 c.233G>A p.Arg78Gln missense_variant probably damaging JHH7 Missense Mutation SLC13A2 chr17 26818479 26818479 C T g.26818479C>T ENST00000314669.5 c.599C>T p.Thr200Met missense_variant benign JHH7 Missense Mutation PROCA1 chr17 27030691 27030691 G A g.27030691G>A ENST00000301039.2 c.896C>T p.Ser299Leu missense_variant benign JHH7 Missense Mutation KRTAP9-4 chr17 39406303 39406303 G C g.39406303G>C ENST00000334109.2 c.331G>C p.Val111Leu missense_variant probably damaging JHH7 Missense Mutation WNK4 chr17 40932879 40932879 C T g.40932879C>T ENST00000246914.5 c.163C>T p.Arg55Cys missense_variant probably damaging JHH7 Missense Mutation MRPL10 chr17 45904443 45904443 C T g.45904443C>T ENST00000351111.2 c.350G>A p.Arg117Gln missense_variant probably damaging JHH7 Missense Mutation DLX3 chr17 48069009 48069009 C G g.48069009C>G ENST00000434704.2 c.736G>C p.Asp246His missense_variant possibly damaging JHH7 Missense Mutation TRIM25 chr17 54981767 54981767 G A g.54981767G>A ENST00000316881.4 c.776C>T p.Ser259Leu missense_variant benign JHH7 Missense Mutation OR4D1 chr17 56232741 56232741 T G g.56232741T>G ENST00000268912.5 c.227T>G p.Val76Gly missense_variant probably damaging JHH7 Missense Mutation KIAA0753 chr17 6524306 6524306 G C g.6524306G>C ENST00000361413.3 c.1117C>G p.Leu373Val missense_variant probably damaging JHH7 Missense Mutation BPTF chr17 65907938 65907938 A G g.65907938A>G ENST00000321892.4 c.4316A>G p.Glu1439Gly missense_variant possibly damaging JHH7 Missense Mutation WIPI1 chr17 66423315 66423315 C T g.66423315C>T ENST00000262139.5 c.1153G>A p.Val385Ile missense_variant possibly damaging JHH7 Missense Mutation SLC16A11 chr17 6946662 6946662 G T g.6946662G>T ENST00000308009.1 c.243C>A p.Ser81Arg missense_variant probably damaging JHH7 Missense Mutation TRIM47 chr17 73871505 73871505 C T g.73871505C>T ENST00000254816.2 c.1252G>A p.Ala418Thr missense_variant benign JHH7 Missense Mutation TP53 chr17 7577138 7577138 C G g.7577138C>G ENST00000269305.4 c.800G>C p.Arg267Pro missense_variant probably damaging JHH7 Missense Mutation TP53TG5 chr20 44003686 44003686 G A g.44003686G>A ENST00000372726.3 c.761C>T p.Pro254Leu missense_variant benign JHH7 Missense Mutation LGALS3BP chr17 76968462 76968462 C G g.76968462C>G ENST00000262776.3 c.954G>C p.Glu318Asp missense_variant probably damaging JHH7 Missense Mutation BAHCC1 chr17 79424475 79424475 G T g.79424475G>T NM_001291324.1 c.4820G>T p.Gly1664Val missense_variant benign JHH7 Missense Mutation HGS chr17 79667816 79667816 C A g.79667816C>A ENST00000329138.4 c.2108C>A p.Ser703Tyr missense_variant benign JHH7 Missense Mutation DHRS7C chr17 9683145 9683145 T C g.9683145T>C ENST00000571134.1 c.475A>G p.Lys159Glu missense_variant probably damaging JHH7 Missense Mutation PSMG2 chr18 12725517 12725517 C T g.12725517C>T ENST00000317615.6 c.782C>T p.Pro261Leu missense_variant probably damaging JHH7 Missense Mutation KCTD1 chr18 24127946 24127946 C G g.24127946C>G ENST00000417602.1 c.555G>C p.Glu185Asp missense_variant unknown JHH7 Missense Mutation TRAPPC8 chr18 29412062 29412062 C T g.29412062C>T ENST00000283351.4 c.4058G>A p.Arg1353Gln missense_variant possibly damaging JHH7 Missense Mutation CCBE1 chr18 57133983 57133983 G A g.57133983G>A ENST00000439986.4 c.541C>T p.Pro181Ser missense_variant possibly damaging JHH7 Missense Mutation CDH20 chr18 59221570 59221570 T C g.59221570T>C ENST00000262717.4 c.2048T>C p.Met683Thr missense_variant benign JHH7 Missense Mutation RAVER1 chr19 10443997 10443997 T G g.10443997T>G ENST00000293677.6 c.238A>C p.Ile80Leu missense_variant benign JHH7 Missense Mutation ZNF440 chr19 11943374 11943374 G C g.11943374G>C ENST00000304060.5 c.1383G>C p.Lys461Asn missense_variant benign JHH7 Missense Mutation JUNB chr19 12903344 12903344 C A g.12903344C>A ENST00000302754.4 c.759C>A p.Asp253Glu missense_variant benign JHH7 Missense Mutation PALM3 chr19 14165216 14165216 T C g.14165216T>C ENST00000340790.4 c.1223A>G p.Glu408Gly missense_variant benign JHH7 Missense Mutation ZNF333 chr19 14826256 14826256 C T g.14826256C>T ENST00000292530.6 c.574C>T p.Pro192Ser missense_variant benign JHH7 Missense Mutation CYP4F3 chr19 15754738 15754738 A G g.15754738A>G ENST00000585846.1 c.220A>G p.Met74Val missense_variant benign JHH7 Missense Mutation EPS15L1 chr19 16514650 16514650 C T g.16514650C>T ENST00000248070.6 c.1520G>A p.Arg507Gln missense_variant possibly damaging JHH7 Missense Mutation HAUS8 chr19 17169399 17169399 G A g.17169399G>A ENST00000253669.5 c.605C>T p.Ser202Phe missense_variant possibly damaging JHH7 Missense Mutation KLHL26 chr19 18778901 18778901 C T g.18778901C>T ENST00000300976.4 c.694C>T p.Arg232Cys missense_variant probably damaging JHH7 Missense Mutation HAPLN4 chr19 19368739 19368739 C T g.19368739C>T ENST00000291481.7 c.1096G>A p.Ala366Thr missense_variant probably damaging JHH7 Missense Mutation C19orf35 chr19 2276337 2276337 G A g.2276337G>A ENST00000342063.3 c.764C>T p.Ala255Val missense_variant possibly damaging JHH7 Missense Mutation GIPC3 chr19 3585744 3585744 G T g.3585744G>T ENST00000322315.5 c.149G>T p.Gly50Val missense_variant probably damaging JHH7 Missense Mutation ZNF850 chr19 37238877 37238877 G A g.37238877G>A ENST00000591344.1 c.3065C>T p.Ser1022Leu missense_variant possibly damaging JHH7 Missense Mutation WDR87 chr19 38375717 38375717 G A g.38375717G>A ENST00000303868.5 c.8477C>T p.Pro2826Leu missense_variant possibly damaging JHH7 Missense Mutation CATSPERG chr19 38851433 38851433 G C g.38851433G>C ENST00000409235.3 c.1830G>C p.Gln610His missense_variant possibly damaging JHH7 Missense Mutation RYR1 chr19 38949791 38949791 G A g.38949791G>A ENST00000355481.4 c.2173G>A p.Val725Met missense_variant probably damaging JHH7 Missense Mutation DLL3 chr19 39998628 39998628 C G g.39998628C>G ENST00000205143.4 c.1832C>G p.Pro611Arg missense_variant benign JHH7 Missense Mutation C19orf47 chr19 40854397 40854397 C G g.40854397C>G ENST00000580977.1 c.25G>C p.V9L missense_variant,NMD_transcript_variant unknown JHH7 Missense Mutation CYP2A6 chr19 41356319 41356319 C T g.41356319C>T ENST00000301141.5 c.13G>A p.Gly5Arg missense_variant probably damaging JHH7 Missense Mutation CEACAM6 chr19 42260825 42260825 G A g.42260825G>A ENST00000199764.6 c.382G>A p.Asp128Asn missense_variant benign JHH7 Missense Mutation SRRM5 chr19 44117271 44117271 G T g.44117271G>T ENST00000417606.1 c.998G>T p.Arg333Ile missense_variant probably damaging JHH7 Missense Mutation ZNF223 chr19 44570756 44570756 C A g.44570756C>A ENST00000434772.3 c.775C>A p.His259Asn missense_variant benign JHH7 Missense Mutation PLIN4 chr19 4512450 4512450 C T g.4512450C>T ENST00000301286.3 c.1480G>A p.Gly494Arg missense_variant probably damaging JHH7 Missense Mutation ZNF541 chr19 48041479 48041479 T G g.48041479T>G ENST00000391901.3 c.3014A>C p.E1005A missense_variant benign JHH7 Missense Mutation GRIN2D chr19 48908412 48908412 G A g.48908412G>A ENST00000263269.3 c.887G>A p.Gly296Glu missense_variant probably damaging JHH7 Missense Mutation CCDC155 chr19 49912284 49912284 G A g.49912284G>A ENST00000447857.3 c.1054G>A p.Asp352Asn missense_variant possibly damaging JHH7 Missense Mutation KLK11 chr19 51527405 51527405 A G g.51527405A>G ENST00000594768.1 c.455T>C p.Val152Ala missense_variant benign JHH7 Missense Mutation SIGLEC9 chr19 51633253 51633253 A G g.51633253A>G ENST00000250360.3 c.1309A>G p.Ser437Gly missense_variant probably damaging JHH7 Missense Mutation FPR1 chr19 52250076 52250076 T C g.52250076T>C ENST00000304748.4 c.172A>G p.Thr58Ala missense_variant benign JHH7 Missense Mutation ZNF813 chr19 53995162 53995162 T G g.53995162T>G ENST00000396403.4 c.1676T>G p.Val559Gly missense_variant benign JHH7 Missense Mutation NLRP2 chr19 55493970 55493970 G C g.55493970G>C ENST00000448584.2 c.904G>C p.Glu302Gln missense_variant benign JHH7 Missense Mutation NLRP4 chr19 56388378 56388378 A G g.56388378A>G ENST00000301295.6 c.2542A>G p.Ile848Val missense_variant probably damaging JHH7 Missense Mutation ZNF419 chr19 58004926 58004926 A G g.58004926A>G ENST00000221735.7 c.1001A>G p.Gln334Arg missense_variant possibly damaging JHH7 Missense Mutation ZNF134 chr19 58131666 58131666 A G g.58131666A>G ENST00000396161.5 c.179A>G p.Lys60Arg missense_variant benign JHH7 Missense Mutation ZNF814 chr19 58384798 58384798 G A g.58384798G>A ENST00000435989.2 c.1960C>T p.His654Tyr missense_variant probably damaging JHH7 Missense Mutation MUC16 chr19 9071862 9071862 G T g.9071862G>T ENST00000397910.4 c.15584C>A p.Thr5195Asn missense_variant probably damaging JHH7 Missense Mutation ARID3A chr19 929637 929637 G A g.929637G>A ENST00000263620.3 c.109G>A p.Gly37Ser missense_variant benign JHH7 Missense Mutation GLI2 chr2 121746230 121746230 C T g.121746230C>T ENST00000361492.4 c.2740C>T p.Arg914Trp missense_variant probably damaging JHH7 Missense Mutation MYO7B chr2 128324242 128324242 G A g.128324242G>A ENST00000389524.4 c.310G>A p.Ala104Thr missense_variant probably damaging JHH7 Missense Mutation LRP1B chr2 141092048 141092048 A G g.141092048A>G ENST00000389484.3 c.12197T>C p.Val4066Ala missense_variant possibly damaging JHH7 Missense Mutation LRP1B chr2 141819781 141819781 T A g.141819781T>A ENST00000389484.3 c.1075A>T p.Met359Leu missense_variant benign JHH7 Missense Mutation RIF1 chr2 152293492 152293492 G C g.152293492G>C ENST00000243326.5 c.1347G>C p.Lys449Asn missense_variant possibly damaging JHH7 Missense Mutation CACNB4 chr2 152733066 152733066 T C g.152733066T>C ENST00000201943.5 c.395A>G p.Tyr132Cys missense_variant probably damaging JHH7 Missense Mutation GPD2 chr2 157368769 157368769 A G g.157368769A>G ENST00000310454.6 c.437A>G p.Asn146Ser missense_variant benign JHH7 Missense Mutation FIGN chr2 164466276 164466276 G C g.164466276G>C ENST00000333129.3 c.2066C>G p.Ser689Cys missense_variant probably damaging JHH7 Missense Mutation SLC25A12 chr2 172666120 172666120 C A g.172666120C>A ENST00000422440.2 c.1301G>T p.Gly434Val missense_variant probably damaging JHH7 Missense Mutation SPATS2L chr2 201337660 201337660 G A g.201337660G>A ENST00000358677.5 c.1166G>A p.Arg389Gln missense_variant probably damaging JHH7 Missense Mutation AC079354.1 chr2 202964347 202964347 A G g.202964347A>G ENST00000541917.1 c.840A>G p.Ile280Met missense_variant benign JHH7 Missense Mutation CCNYL1 chr2 208606991 208606991 C G g.208606991C>G ENST00000295414.3 c.564C>G p.His188Gln missense_variant benign JHH7 Missense Mutation USP37 chr2 219341689 219341689 T G g.219341689T>G ENST00000258399.3 c.1917A>C p.Lys639Asn missense_variant possibly damaging JHH7 Missense Mutation STK36 chr2 219562605 219562605 G A g.219562605G>A ENST00000295709.3 c.2938G>A p.Val980Met missense_variant benign JHH7 Missense Mutation SPEG chr2 220331985 220331985 G A g.220331985G>A ENST00000312358.7 c.2971G>A p.Val991Met missense_variant probably damaging JHH7 Missense Mutation OBSL1 chr2 220419223 220419223 G A g.220419223G>A ENST00000404537.1 c.4849C>T p.Arg1617Cys missense_variant probably damaging JHH7 Missense Mutation DIS3L2 chr2 233198691 233198691 G A g.233198691G>A ENST00000325385.7 c.2152G>A p.Ala718Thr missense_variant benign JHH7 Missense Mutation INPP5D chr2 234113281 234113281 G A g.234113281G>A ENST00000359570.5 c.3449G>A p.R1150H missense_variant probably damaging JHH7 Missense Mutation ESPNL chr2 239025565 239025565 C A g.239025565C>A ENST00000343063.3 c.877C>A p.His293Asn missense_variant probably damaging JHH7 Missense Mutation SLC30A6 chr2 32422793 32422793 C T g.32422793C>T ENST00000282587.5 c.563C>T p.Pro188Leu missense_variant probably damaging JHH7 Missense Mutation MSH2 chr2 47657059 47657059 C A g.47657059C>A ENST00000233146.2 c.1255C>A p.Gln419Lys missense_variant benign JHH7 Missense Mutation ADD2 chr2 70890568 70890568 C T g.70890568C>T ENST00000264436.4 c.2170G>A p.Val724Met missense_variant possibly damaging JHH7 Missense Mutation NOTO chr2 73430050 73430050 G A g.73430050G>A ENST00000398468.3 c.256G>A p.Ala86Thr missense_variant benign JHH7 Missense Mutation MOGS chr2 74689399 74689399 C T g.74689399C>T ENST00000233616.4 c.1517G>A p.Arg506Gln missense_variant benign JHH7 Missense Mutation PROM2 chr2 95943211 95943211 G A g.95943211G>A ENST00000317620.9 c.872G>A p.Arg291Gln missense_variant probably damaging JHH7 Missense Mutation KCNIP3 chr2 95976152 95976152 C T g.95976152C>T ENST00000295225.5 c.65C>T p.Thr22Ile missense_variant benign JHH7 Missense Mutation LIPT1 chr2 99778980 99778980 C T g.99778980C>T ENST00000340066.1 c.560C>T p.Thr187Met missense_variant possibly damaging JHH7 Missense Mutation C20orf187 chr20 11008876 11008876 A T g.11008876A>T ENST00000378252.1 c.81A>T p.E27D missense_variant NA JHH7 Missense Mutation CRNKL1 chr20 20019036 20019036 C T g.20019036C>T ENST00000377340.2 c.2087G>A p.Arg696Gln missense_variant probably damaging JHH7 Missense Mutation C20orf96 chr20 257990 257990 C A g.257990C>A ENST00000360321.2 c.600G>T p.Lys200Asn missense_variant possibly damaging JHH7 Missense Mutation VPS16 chr20 2841423 2841423 G A g.2841423G>A ENST00000380445.3 c.544G>A p.Val182Met missense_variant probably damaging JHH7 Missense Mutation PTPRA chr20 3016327 3016327 G A g.3016327G>A ENST00000216877.6 c.1990G>A p.Val664Ile missense_variant benign JHH7 Missense Mutation FOXS1 chr20 30432472 30432472 G C g.30432472G>C ENST00000375978.3 c.874C>G p.Pro292Ala missense_variant possibly damaging JHH7 Missense Mutation TRIB3 chr20 371983 371983 C G g.371983C>G ENST00000217233.3 c.344C>G p.Pro115Arg missense_variant probably damaging JHH7 Missense Mutation PPP1R16B chr20 37547263 37547263 T C g.37547263T>C ENST00000299824.1 c.1658T>C p.Ile553Thr missense_variant benign JHH7 Missense Mutation SNX21 chr20 44462901 44462901 G A g.44462901G>A ENST00000342644.5 c.83G>A p.Gly28Glu missense_variant benign JHH7 Missense Mutation ZSWIM3 chr20 44507112 44507112 G A g.44507112G>A ENST00000255152.2 c.1915G>A p.Glu639Lys missense_variant possibly damaging JHH7 Missense Mutation PCIF1 chr20 44576281 44576281 C T g.44576281C>T ENST00000372409.3 c.2002C>T p.Arg668Trp missense_variant probably damaging JHH7 Missense Mutation SLC23A2 chr20 4837728 4837728 A T g.4837728A>T ENST00000338244.1 c.1843T>A p.Cys615Ser missense_variant benign JHH7 Missense Mutation DPM1 chr20 49575041 49575041 C A g.49575041C>A ENST00000371582.4 c.20G>T p.Ser7Ile missense_variant benign JHH7 Missense Mutation GPCPD1 chr20 5528332 5528332 C T g.5528332C>T ENST00000379019.4 c.1994G>A p.Gly665Asp missense_variant benign JHH7 Missense Mutation APCDD1L chr20 57042242 57042242 G C g.57042242G>C ENST00000371149.3 c.661C>G p.Leu221Val missense_variant probably damaging JHH7 Missense Mutation LRRN4 chr20 6022425 6022425 G C g.6022425G>C ENST00000378858.4 c.1466C>G p.Ser489Trp missense_variant benign JHH7 Missense Mutation SOX18 chr20 62679626 62679626 C T g.62679626C>T ENST00000340356.7 c.1048G>A p.Ala350Thr missense_variant possibly damaging JHH7 Missense Mutation TPTE chr21 10941949 10941949 G T g.10941949G>T ENST00000361285.4 c.754C>A p.Pro252Thr missense_variant probably damaging JHH7 Missense Mutation GRIK1 chr21 31045345 31045345 T C g.31045345T>C ENST00000309434.7 c.684A>G p.Ile228Met missense_variant probably damaging JHH7 Missense Mutation KRTAP26-1 chr21 31692334 31692334 C A g.31692334C>A ENST00000360542.3 c.20G>T p.Cys7Phe missense_variant possibly damaging JHH7 Missense Mutation TIAM1 chr21 32493067 32493067 G T g.32493067G>T ENST00000286827.3 c.4395C>A p.Ser1465Arg missense_variant possibly damaging JHH7 Missense Mutation TIAM1 chr21 32638817 32638817 T C g.32638817T>C ENST00000286827.3 c.472A>G p.Thr158Ala missense_variant benign JHH7 Missense Mutation BACE2 chr21 42647487 42647487 G A g.42647487G>A ENST00000330333.6 c.1493G>A p.Arg498His missense_variant benign JHH7 Missense Mutation TRPM2 chr21 45845673 45845673 C T g.45845673C>T ENST00000300482.5 c.3758C>T p.Thr1253Met missense_variant benign JHH7 Missense Mutation MICAL3 chr22 18300844 18300844 T C g.18300844T>C ENST00000441493.2 c.4583A>G p.Asp1528Gly missense_variant probably damaging JHH7 Missense Mutation SUN2 chr22 39146283 39146283 C T g.39146283C>T ENST00000216064.4 c.467G>A p.Arg156Gln missense_variant benign JHH7 Missense Mutation TCF20 chr22 42610303 42610303 T C g.42610303T>C ENST00000335626.4 c.1009A>G p.Lys337Glu missense_variant probably damaging JHH7 Missense Mutation IMPG2 chr3 101039196 101039196 A C g.101039196A>C ENST00000193391.7 c.21T>G p.Phe7Leu missense_variant benign JHH7 Missense Mutation GAP43 chr3 115395174 115395174 G C g.115395174G>C ENST00000305124.6 c.345G>C p.Glu115Asp missense_variant benign JHH7 Missense Mutation C3orf30 chr3 118865677 118865677 T C g.118865677T>C ENST00000295622.1 c.641T>C p.Leu214Ser missense_variant probably damaging JHH7 Missense Mutation ADPRH chr3 119306579 119306579 G A g.119306579G>A ENST00000357003.3 c.928G>A p.Ala310Thr missense_variant probably damaging JHH7 Missense Mutation ARGFX chr3 121289579 121289579 C T g.121289579C>T ENST00000334384.3 c.19C>T p.Pro7Ser missense_variant benign JHH7 Missense Mutation ALG1L chr3 125652537 125652537 G A g.125652537G>A NM_001195223.1 c.41C>T p.Ser14Leu (Splice) missense_variant,splice_region_variant benign JHH7 Missense Mutation EIF2A chr3 150290309 150290309 C G g.150290309C>G ENST00000460851.1 c.1376C>G p.Ser459Cys missense_variant probably damaging JHH7 Missense Mutation ARHGEF26 chr3 153840215 153840215 G A g.153840215G>A ENST00000356448.4 c.434G>A p.Arg145His missense_variant benign JHH7 Missense Mutation PLCH1 chr3 155199295 155199295 C T g.155199295C>T ENST00000340059.7 c.4544G>A p.Ser1515Asn missense_variant probably damaging JHH7 Missense Mutation GFM1 chr3 158366853 158366853 C T g.158366853C>T ENST00000264263.5 c.596C>T p.Ala199Val missense_variant probably damaging JHH7 Missense Mutation SI chr3 164773061 164773061 G C g.164773061G>C ENST00000264382.3 c.1433C>G p.Thr478Ser missense_variant benign JHH7 Missense Mutation GPR160 chr3 169802578 169802578 T C g.169802578T>C ENST00000355897.5 c.818T>C p.Ile273Thr missense_variant possibly damaging JHH7 Missense Mutation PHC3 chr3 169835124 169835124 T C g.169835124T>C ENST00000495893.2 c.2083A>G p.Ser695Gly missense_variant benign JHH7 Missense Mutation NAALADL2 chr3 174815005 174815005 T A g.174815005T>A ENST00000454872.1 c.469T>A p.Ser157Thr missense_variant possibly damaging JHH7 Missense Mutation YEATS2 chr3 183469906 183469906 A G g.183469906A>G ENST00000305135.5 c.1015A>G p.Ile339Val missense_variant benign JHH7 Missense Mutation MASP1 chr3 186937987 186937987 C G g.186937987C>G ENST00000337774.5 c.1972G>C p.Gly658Arg missense_variant benign JHH7 Missense Mutation LPP chr3 188242552 188242552 C T g.188242552C>T ENST00000312675.4 c.406C>T p.Pro136Ser missense_variant probably damaging JHH7 Missense Mutation STAC chr3 36485052 36485052 C G g.36485052C>G ENST00000273183.3 c.308C>G p.Pro103Arg missense_variant possibly damaging JHH7 Missense Mutation ITGA9 chr3 37725438 37725438 G C g.37725438G>C ENST00000264741.5 c.1999G>C p.Asp667His missense_variant probably damaging JHH7 Missense Mutation ZNF621 chr3 40574466 40574466 T C g.40574466T>C ENST00000339296.5 c.1205T>C p.Leu402Pro missense_variant benign JHH7 Missense Mutation ZNF502 chr3 44763241 44763241 C T g.44763241C>T ENST00000296091.4 c.932C>T p.Thr311Met missense_variant possibly damaging JHH7 Missense Mutation KIF15 chr3 44816783 44816783 C T g.44816783C>T ENST00000326047.4 c.100C>T p.Arg34Cys missense_variant probably damaging JHH7 Missense Mutation TMEM42 chr3 44903604 44903604 G A g.44903604G>A ENST00000302392.4 c.188G>A p.Ser63Asn missense_variant benign JHH7 Missense Mutation CCR5 chr3 46415226 46415226 C T g.46415226C>T ENST00000292303.4 c.833C>T p.Ala278Val missense_variant possibly damaging JHH7 Missense Mutation IQCF6 chr3 51812766 51812766 C T g.51812766C>T ENST00000398780.3 c.197G>A p.Arg66His missense_variant probably damaging JHH7 Missense Mutation DNAH1 chr3 52433062 52433062 C T g.52433062C>T ENST00000420323.2 c.12286C>T p.Arg4096Cys missense_variant probably damaging JHH7 Missense Mutation ITIH3 chr3 52836483 52836483 G A g.52836483G>A ENST00000416872.2 c.1517G>A p.Arg506His missense_variant possibly damaging JHH7 Missense Mutation DNAH12 chr3 57431883 57431883 T G g.57431883T>G ENST00000351747.2 c.3985A>C p.Ile1329Leu missense_variant benign JHH7 Missense Mutation DNAH12 chr3 57454515 57454515 T C g.57454515T>C ENST00000351747.2 c.2297A>G p.Asn766Ser missense_variant benign JHH7 Missense Mutation CADPS chr3 62498428 62498428 G T g.62498428G>T ENST00000383710.4 c.2597C>A p.Ala866Glu (Splice) missense_variant,splice_region_variant possibly damaging JHH7 Missense Mutation FOXP1 chr3 71247203 71247203 T C g.71247203T>C ENST00000318779.3 c.197A>G p.His66Arg missense_variant benign JHH7 Missense Mutation CNTN3 chr3 74418498 74418498 C A g.74418498C>A ENST00000263665.6 c.788G>T p.Arg263Ile missense_variant probably damaging JHH7 Missense Mutation ZNF717 chr3 75786112 75786112 G A g.75786112G>A ENST00000422325.1 c.2662C>T p.His888Tyr missense_variant possibly damaging JHH7 Missense Mutation TBCK chr4 107230099 107230099 C T g.107230099C>T ENST00000273980.5 c.19G>A p.Ala7Thr missense_variant benign JHH7 Missense Mutation CCNA2 chr4 122743771 122743771 C T g.122743771C>T ENST00000274026.5 c.244G>A p.Asp82Asn missense_variant benign JHH7 Missense Mutation TRPC3 chr4 122825662 122825662 T A g.122825662T>A ENST00000379645.3 c.2068A>T p.Ser690Cys missense_variant probably damaging JHH7 Missense Mutation ZNF827 chr4 146823737 146823737 T A g.146823737T>A ENST00000379448.4 c.674A>T p.Asp225Val missense_variant probably damaging JHH7 Missense Mutation PLRG1 chr4 155467062 155467062 G C g.155467062G>C ENST00000393905.2 c.418C>G p.Arg140Gly missense_variant benign JHH7 Missense Mutation MAP9 chr4 156283286 156283286 C T g.156283286C>T ENST00000311277.4 c.716G>A p.Cys239Tyr missense_variant benign JHH7 Missense Mutation DDX60 chr4 169146779 169146779 A C g.169146779A>C ENST00000393743.3 c.4582T>G p.Tyr1528Asp missense_variant probably damaging JHH7 Missense Mutation ACSL1 chr4 185678376 185678376 T C g.185678376T>C ENST00000281455.2 c.2000A>G p.Asn667Ser missense_variant probably damaging JHH7 Missense Mutation BEND4 chr4 42145649 42145649 T C g.42145649T>C ENST00000502486.1 c.850A>G p.Thr284Ala missense_variant benign JHH7 Missense Mutation GABRG1 chr4 46099328 46099328 G A g.46099328G>A ENST00000295452.4 c.143C>T p.Thr48Met missense_variant probably damaging JHH7 Missense Mutation ERVMER34-1 chr4 53610761 53610761 A T g.53610761A>T ENST00000440542.1 c.927T>A p.Phe309Leu missense_variant probably damaging JHH7 Missense Mutation BLOC1S4 chr4 6718214 6718214 T A g.6718214T>A ENST00000320776.3 c.278T>A p.Leu93His missense_variant probably damaging JHH7 Missense Mutation UGT2B15 chr4 69513017 69513017 C G g.69513017C>G ENST00000338206.5 c.1398G>C p.Glu466Asp missense_variant probably damaging JHH7 Missense Mutation UGT2B10 chr4 69682446 69682446 G A g.69682446G>A ENST00000265403.7 c.709G>A p.Glu237Lys missense_variant benign JHH7 Missense Mutation SORCS2 chr4 7741957 7741957 A C g.7741957A>C ENST00000507866.2 c.3446A>C p.Asn1149Thr missense_variant benign JHH7 Missense Mutation HERC5 chr4 89400569 89400569 G A g.89400569G>A ENST00000264350.3 c.1648G>A p.Val550Ile missense_variant benign JHH7 Missense Mutation FAM170A chr5 118970093 118970093 C T g.118970093C>T ENST00000335286.6 c.650C>T p.Thr217Ile missense_variant,NMD_transcript_variant probably damaging JHH7 Missense Mutation FSTL4 chr5 132939620 132939620 C G g.132939620C>G ENST00000265342.7 c.55G>C p.Ala19Pro missense_variant benign JHH7 Missense Mutation PCDHB15 chr5 140626275 140626275 G A g.140626275G>A ENST00000231173.3 c.1129G>A p.Glu377Lys missense_variant benign JHH7 Missense Mutation PCDHGA5 chr5 140744736 140744736 C G g.140744736C>G ENST00000518069.1 c.839C>G p.Ser280Cys missense_variant damaging JHH7 Missense Mutation PCDHGA5 chr5 140744754 140744754 A G g.140744754A>G ENST00000518069.1 c.857A>G p.Glu286Gly missense_variant benign JHH7 Missense Mutation SPINK7 chr5 147693780 147693780 G A g.147693780G>A ENST00000274565.4 c.205G>A p.Glu69Lys missense_variant probably damaging JHH7 Missense Mutation CSNK1A1 chr5 148929702 148929702 G T g.148929702G>T ENST00000261798.5 c.166C>A p.Gln56Lys missense_variant possibly damaging JHH7 Missense Mutation PDGFRB chr5 149515232 149515232 C T g.149515232C>T ENST00000261799.4 c.250G>A p.Val84Met missense_variant benign JHH7 Missense Mutation CPLX2 chr5 175306967 175306967 G T g.175306967G>T ENST00000359546.4 c.324G>T p.Glu108Asp missense_variant benign JHH7 Missense Mutation HK3 chr5 176314650 176314650 T C g.176314650T>C ENST00000292432.5 c.1402A>G p.Met468Val missense_variant benign JHH7 Missense Mutation ZNF354C chr5 178506767 178506767 G A g.178506767G>A ENST00000315475.6 c.1334G>A p.Cys445Tyr missense_variant probably damaging JHH7 Missense Mutation SPEF2 chr5 35654688 35654688 T A g.35654688T>A ENST00000282469.6 c.838T>A p.Leu280Met missense_variant probably damaging JHH7 Missense Mutation PARP8 chr5 50091104 50091104 A C g.50091104A>C ENST00000281631.5 c.1281A>C p.Lys427Asn missense_variant possibly damaging JHH7 Missense Mutation JMY chr5 78533234 78533234 C G g.78533234C>G ENST00000396137.4 c.761C>G p.Pro254Arg missense_variant possibly damaging JHH7 Missense Mutation KIAA0825 chr5 93856459 93856459 A G g.93856459A>G ENST00000312498.7 c.464T>C p.Met155Thr missense_variant benign JHH7 Missense Mutation AIM1 chr6 106968654 106968654 C T g.106968654C>T ENST00000369066.3 c.2347C>T p.Arg783Cys missense_variant probably damaging JHH7 Missense Mutation LAMA4 chr6 112454086 112454086 G T g.112454086G>T ENST00000230538.7 c.3703C>A p.Arg1235Ser missense_variant probably damaging JHH7 Missense Mutation DSE chr6 116757291 116757291 G A g.116757291G>A ENST00000331677.3 c.1660G>A p.Val554Ile missense_variant benign JHH7 Missense Mutation ROS1 chr6 117677875 117677875 T G g.117677875T>G ENST00000368508.3 c.4058A>C p.Tyr1353Ser missense_variant probably damaging JHH7 Missense Mutation TBC1D7 chr6 13307904 13307904 G A g.13307904G>A ENST00000356436.4 c.593C>T p.Ala198Val missense_variant benign JHH7 Missense Mutation TCF21 chr6 134210779 134210779 A C g.134210779A>C ENST00000237316.3 c.244A>C p.Asn82His missense_variant benign JHH7 Missense Mutation PCMT1 chr6 150070987 150070987 A G g.150070987A>G ENST00000367378.1 c.124A>G p.Thr42Ala missense_variant benign JHH7 Missense Mutation ARID1B chr6 157470009 157470009 A G g.157470009A>G ENST00000350026.5 c.2764A>G p.Met922Val missense_variant possibly damaging JHH7 Missense Mutation EZR chr6 159188073 159188073 T C g.159188073T>C ENST00000337147.7 c.1634A>G p.Asn545Ser missense_variant benign JHH7 Missense Mutation WDR27 chr6 170064273 170064273 C T g.170064273C>T ENST00000333572.6 c.893G>A p.Cys298Tyr missense_variant benign JHH7 Missense Mutation CDKAL1 chr6 21198307 21198307 A T g.21198307A>T ENST00000274695.4 c.1355A>T p.Tyr452Phe missense_variant benign JHH7 Missense Mutation HIST1H3A chr6 26020917 26020917 C T g.26020917C>T ENST00000357647.3 c.200C>T p.Pro67Leu missense_variant probably damaging JHH7 Missense Mutation HIST1H1C chr6 26056293 26056293 T G g.26056293T>G ENST00000343677.2 c.364A>C p.Lys122Gln missense_variant probably damaging JHH7 Missense Mutation TAPBP chr6 33272221 33272221 G A g.33272221G>A ENST00000489157.1 c.802C>T p.His268Tyr missense_variant probably damaging JHH7 Missense Mutation FANCE chr6 35423783 35423783 G T g.35423783G>T ENST00000229769.2 c.508G>T p.Gly170Trp missense_variant possibly damaging JHH7 Missense Mutation FGD2 chr6 36993652 36993652 G C g.36993652G>C ENST00000274963.8 c.1543G>C p.Ala515Pro missense_variant benign JHH7 Missense Mutation RREB1 chr6 7247272 7247272 C T g.7247272C>T ENST00000349384.6 c.4424C>T p.Ser1475Phe missense_variant probably damaging JHH7 Missense Mutation LCA5 chr6 80197046 80197046 T C g.80197046T>C ENST00000369846.4 c.1769A>G p.Asp590Gly missense_variant benign JHH7 Missense Mutation C6orf163 chr6 88074788 88074788 G A g.88074788G>A ENST00000388923.4 c.664G>A p.Gly222Ser missense_variant benign JHH7 Missense Mutation ORC3 chr6 88321875 88321875 G A g.88321875G>A ENST00000257789.4 c.782G>A p.Arg261Gln missense_variant possibly damaging JHH7 Missense Mutation DOCK4 chr7 111617313 111617313 T C g.111617313T>C ENST00000428084.1 c.575A>G p.Asp192Gly missense_variant benign JHH7 Missense Mutation SPAM1 chr7 123593979 123593979 T A g.123593979T>A ENST00000223028.7 c.355T>A p.Ser119Thr missense_variant benign JHH7 Missense Mutation AKR1B10 chr7 134221478 134221478 A G g.134221478A>G ENST00000359579.4 c.506A>G p.Lys169Arg missense_variant benign JHH7 Missense Mutation NUP205 chr7 135312756 135312756 C G g.135312756C>G ENST00000285968.6 c.4829C>G p.Pro1610Arg missense_variant probably damaging JHH7 Missense Mutation CLCN1 chr7 143029935 143029935 T C g.143029935T>C ENST00000343257.2 c.1370T>C p.Val457Ala missense_variant benign JHH7 Missense Mutation KMT2C chr7 151848022 151848022 T C g.151848022T>C ENST00000262189.6 c.12737A>G p.Tyr4246Cys missense_variant benign JHH7 Missense Mutation HDAC9 chr7 18688092 18688092 G C g.18688092G>C ENST00000405010.3 c.1244G>C p.Gly415Ala missense_variant benign JHH7 Missense Mutation HOXA9 chr7 27203342 27203342 C A g.27203342C>A ENST00000343483.6 c.699G>T p.Arg233Ser missense_variant probably damaging JHH7 Missense Mutation NACAD chr7 45125688 45125688 C G g.45125688C>G ENST00000490531.2 c.91G>C p.Ala31Pro missense_variant possibly damaging JHH7 Missense Mutation TNS3 chr7 47408694 47408694 G T g.47408694G>T ENST00000311160.9 c.1549C>A p.Q517K missense_variant probably damaging JHH7 Missense Mutation ABCA13 chr7 48352761 48352761 A C g.48352761A>C ENST00000435803.1 c.9614A>C p.Glu3205Ala missense_variant possibly damaging JHH7 Missense Mutation TNRC18 chr7 5428764 5428764 C T g.5428764C>T ENST00000399537.4 c.691G>A p.Glu231Lys missense_variant probably damaging JHH7 Missense Mutation DAGLB chr7 6449550 6449550 C T g.6449550C>T ENST00000297056.6 c.1937G>A p.Arg646Gln missense_variant benign JHH7 Missense Mutation ASL chr7 65557892 65557892 A G g.65557892A>G ENST00000304874.9 c.1388A>G p.Gln463Arg missense_variant benign JHH7 Missense Mutation BAZ1B chr7 72892067 72892067 T G g.72892067T>G ENST00000339594.4 c.1724A>C p.Glu575Ala missense_variant probably damaging JHH7 Missense Mutation TBL2 chr7 72985103 72985103 G A g.72985103G>A ENST00000305632.5 c.1078C>T p.Arg360Trp missense_variant probably damaging JHH7 Missense Mutation DTX2 chr7 76134824 76134824 C T g.76134824C>T ENST00000324432.5 c.1775C>T p.Thr592Met missense_variant possibly damaging JHH7 Missense Mutation AZGP1 chr7 99566014 99566014 T C g.99566014T>C ENST00000292401.4 c.377A>G p.Glu126Gly missense_variant benign JHH7 Missense Mutation AP4M1 chr7 99702965 99702965 G T g.99702965G>T ENST00000359593.4 c.830G>T p.Gly277Val missense_variant probably damaging JHH7 Missense Mutation VPS13B chr8 100454797 100454797 G T g.100454797G>T ENST00000357162.2 c.3379G>T p.Gly1127Trp missense_variant probably damaging JHH7 Missense Mutation UBR5 chr8 103297949 103297949 C G g.103297949C>G ENST00000220959.4 c.5276G>C p.Ser1759Thr missense_variant possibly damaging JHH7 Missense Mutation RP1L1 chr8 10467581 10467581 C T g.10467581C>T ENST00000382483.3 c.4027G>A p.Glu1343Lys missense_variant benign JHH7 Missense Mutation DPYS chr8 105459669 105459669 C T g.105459669C>T ENST00000351513.2 c.486G>A p.Met162Ile missense_variant probably damaging JHH7 Missense Mutation CSMD3 chr8 113392622 113392622 T A g.113392622T>A ENST00000297405.5 c.6095A>T p.Asp2032Val missense_variant probably damaging JHH7 Missense Mutation FER1L6 chr8 125080044 125080044 A G g.125080044A>G ENST00000399018.1 c.3715A>G p.Thr1239Ala missense_variant benign JHH7 Missense Mutation C8orf48 chr8 13425000 13425000 C G g.13425000C>G ENST00000297324.4 c.500C>G p.Thr167Ser missense_variant benign JHH7 Missense Mutation PLEC chr8 144999500 144999500 G A g.144999500G>A ENST00000322810.4 c.5008C>T p.Arg1670Trp missense_variant probably damaging JHH7 Missense Mutation TUSC3 chr8 15517101 15517101 T C g.15517101T>C ENST00000382020.4 c.512T>C p.Ile171Thr missense_variant benign JHH7 Missense Mutation TNFRSF10C chr8 22960660 22960660 A G g.22960660A>G ENST00000356864.3 c.26A>G p.Lys9Arg missense_variant possibly damaging JHH7 Missense Mutation NUGGC chr8 27880851 27880851 G T g.27880851G>T ENST00000341513.6 c.2374C>A p.Pro792Thr missense_variant benign JHH7 Missense Mutation TEX15 chr8 30704247 30704247 C T g.30704247C>T ENST00000256246.2 c.2287G>A p.Glu763Lys missense_variant benign JHH7 Missense Mutation ANK1 chr8 41553894 41553894 C A g.41553894C>A ENST00000289734.7 c.2947G>T p.Ala983Ser missense_variant benign JHH7 Missense Mutation RP1 chr8 55537475 55537475 G A g.55537475G>A ENST00000220676.1 c.1033G>A p.Glu345Lys missense_variant probably damaging JHH7 Missense Mutation PREX2 chr8 68942880 68942880 T G g.68942880T>G ENST00000288368.4 c.692T>G p.Ile231Ser missense_variant possibly damaging JHH7 Missense Mutation TRPA1 chr8 72958803 72958803 A C g.72958803A>C ENST00000262209.4 c.2006T>G p.Phe669Cys missense_variant probably damaging JHH7 Missense Mutation ZFHX4 chr8 77617729 77617729 C G g.77617729C>G ENST00000050961.6 c.1406C>G p.Pro469Arg missense_variant benign JHH7 Missense Mutation POP1 chr8 99148750 99148750 A G g.99148750A>G ENST00000349693.3 c.1052A>G p.Glu351Gly missense_variant benign JHH7 Missense Mutation PTGES2 chr9 130886078 130886078 C T g.130886078C>T ENST00000338961.6 c.589G>A p.Glu197Lys missense_variant possibly damaging JHH7 Missense Mutation SLC27A4 chr9 131107679 131107679 G A g.131107679G>A ENST00000300456.4 c.407G>A p.Arg136His missense_variant probably damaging JHH7 Missense Mutation ZER1 chr9 131504832 131504832 C T g.131504832C>T ENST00000291900.2 c.1552G>A p.Val518Met missense_variant probably damaging JHH7 Missense Mutation USP20 chr9 132632083 132632083 G A g.132632083G>A ENST00000315480.4 c.1525G>A p.Ala509Thr missense_variant benign JHH7 Missense Mutation PRRC2B chr9 134323083 134323083 C T g.134323083C>T ENST00000357304.4 c.1012C>T p.Arg338Cys missense_variant probably damaging JHH7 Missense Mutation CEL chr9 135940543 135940543 C T g.135940543C>T ENST00000372080.4 c.466C>T p.Arg156Cys missense_variant probably damaging JHH7 Missense Mutation ADAMTS13 chr9 136303459 136303459 G C g.136303459G>C ENST00000355699.2 c.1678G>C p.Gly560Arg missense_variant probably damaging JHH7 Missense Mutation VAV2 chr9 136677292 136677292 C A g.136677292C>A ENST00000371850.3 c.496G>T p.Asp166Tyr missense_variant possibly damaging JHH7 Missense Mutation PPP1R26 chr9 138378981 138378981 G C g.138378981G>C ENST00000356818.2 c.2625G>C p.Glu875Asp missense_variant probably damaging JHH7 Missense Mutation TRAF2 chr9 139802646 139802646 G A g.139802646G>A ENST00000247668.2 c.491G>A p.Arg164Gln missense_variant benign JHH7 Missense Mutation CD274 chr9 5457282 5457282 C T g.5457282C>T ENST00000381577.3 c.256C>T p.Arg86Trp missense_variant benign JHH7 Missense Mutation KANK1 chr9 738495 738495 T G g.738495T>G ENST00000382297.2 c.3544T>G p.Leu1182Val missense_variant probably damaging JHH7 Missense Mutation PTCH1 chr9 98270504 98270504 C A g.98270504C>A ENST00000331920.6 c.140G>T p.Arg47Leu missense_variant benign JHH7 Missense Mutation ZNF367 chr9 99180181 99180181 C A g.99180181C>A ENST00000375256.4 c.134G>T p.Gly45Val missense_variant benign JHH7 Missense Mutation MID2 chrX 107147232 107147232 C A g.107147232C>A ENST00000262843.6 c.861C>A p.Asp287Glu missense_variant possibly damaging JHH7 Missense Mutation COL4A6 chrX 107554030 107554030 C A g.107554030C>A ENST00000372216.4 c.95G>T p.Gly32Val missense_variant possibly damaging JHH7 Missense Mutation CHRDL1 chrX 109963075 109963075 G A g.109963075G>A ENST00000372045.1 c.508C>T p.Arg170Trp missense_variant probably damaging JHH7 Missense Mutation USP26 chrX 132161658 132161658 T A g.132161658T>A ENST00000370832.1 c.591A>T p.Glu197Asp missense_variant possibly damaging JHH7 Missense Mutation GLRA2 chrX 14550408 14550408 C T g.14550408C>T ENST00000218075.4 c.116C>T p.Ser39Leu missense_variant possibly damaging JHH7 Missense Mutation CXorf40A chrX 148628366 148628366 T C g.148628366T>C ENST00000359293.5 c.335T>C p.Val112Ala missense_variant benign JHH7 Missense Mutation PASD1 chrX 150832794 150832794 C G g.150832794C>G ENST00000370357.4 c.1045C>G p.Leu349Val missense_variant possibly damaging JHH7 Missense Mutation L1CAM chrX 153130841 153130841 A G g.153130841A>G ENST00000361699.4 c.2662T>C p.Tyr888His missense_variant possibly damaging JHH7 Missense Mutation DMD chrX 32360312 32360312 T C g.32360312T>C ENST00000357033.4 c.5827A>G p.Met1943Val missense_variant benign JHH7 Missense Mutation CXorf30 chrX 36324905 36324905 T C g.36324905T>C ENST00000378657.4 c.439T>C p.Ser147Pro missense_variant probably damaging JHH7 Missense Mutation GNL3L chrX 54578780 54578780 C G g.54578780C>G ENST00000336470.4 c.1237C>G p.Leu413Val missense_variant benign JHH7 Missense Mutation TRO chrX 54955359 54955359 C G g.54955359C>G ENST00000173898.7 c.2202C>G p.Ser734Arg missense_variant probably damaging JHH7 Missense Mutation BRWD3 chrX 79940977 79940977 T C g.79940977T>C ENST00000373275.4 c.4064A>G p.Asp1355Gly missense_variant benign JHH7 Missense Mutation BRWD3 chrX 79973220 79973220 T C g.79973220T>C ENST00000373275.4 c.2083A>G p.Asn695Asp missense_variant possibly damaging JHH7 Missense Mutation PABPC5 chrX 90691568 90691568 C T g.90691568C>T ENST00000312600.3 c.992C>T p.Ala331Val missense_variant benign JHH7 Missense Mutation SRPX2 chrX 99920591 99920591 C T g.99920591C>T ENST00000373004.3 c.718C>T p.Arg240Cys missense_variant probably damaging SNU354 Missense Mutation DPH5 chr1 101458207 101458207 C T g.101458207C>T ENST00000342173.7 c.620G>A p.Arg207Gln missense_variant benign SNU354 Missense Mutation CELSR2 chr1 109816144 109816144 C T g.109816144C>T ENST00000271332.3 c.8596C>T p.Arg2866Trp missense_variant probably damaging SNU354 Missense Mutation KCNC4 chr1 110768699 110768699 C G g.110768699C>G ENST00000369787.3 c.1718C>G p.Ala573Gly missense_variant benign SNU354 Missense Mutation IVL chr1 152882758 152882758 A G g.152882758A>G ENST00000368764.3 c.485A>G p.His162Arg missense_variant possibly damaging SNU354 Missense Mutation ATP8B2 chr1 154321416 154321416 C A g.154321416C>A ENST00000368489.3 c.3494C>A p.Ser1165Tyr missense_variant probably damaging SNU354 Missense Mutation C1orf195 chr1 15495061 15495061 T G g.15495061T>G ENST00000376005.3 c.311A>C p.Gln104Pro missense_variant benign SNU354 Missense Mutation CD1A chr1 158225962 158225962 T C g.158225962T>C ENST00000289429.5 c.494T>C p.Leu165Pro missense_variant probably damaging SNU354 Missense Mutation OR10Z1 chr1 158576989 158576989 G A g.158576989G>A ENST00000361284.1 c.761G>A p.Cys254Tyr missense_variant probably damaging SNU354 Missense Mutation COPA chr1 160262284 160262284 T G g.160262284T>G ENST00000241704.7 c.2950A>C p.Asn984His missense_variant benign SNU354 Missense Mutation ITLN1 chr1 160850417 160850417 C A g.160850417C>A ENST00000326245.3 c.646G>T p.Ala216Ser missense_variant possibly damaging SNU354 Missense Mutation EIF4G3 chr1 21268083 21268083 C T g.21268083C>T ENST00000264211.8 c.1396G>A p.Ala466Thr missense_variant benign SNU354 Missense Mutation CAPN9 chr1 230883297 230883297 G A g.230883297G>A ENST00000271971.2 c.55G>A p.Ala19Thr missense_variant possibly damaging SNU354 Missense Mutation LYST chr1 235973403 235973403 T G g.235973403T>G ENST00000389793.2 c.715A>C p.Ser239Arg missense_variant benign SNU354 Missense Mutation PANK4 chr1 2452561 2452561 A T g.2452561A>T ENST00000378466.3 c.401T>A p.Ile134Asn missense_variant probably damaging SNU354 Missense Mutation OR2T4 chr1 248524992 248524992 A G g.248524992A>G ENST00000366475.1 c.110A>G p.Asn37Ser missense_variant benign SNU354 Missense Mutation OR8G2 chr11 124095422 124095422 A T g.124095422A>T NM_001007249.1 c.25A>T p.Thr9Ser missense_variant benign SNU354 Missense Mutation COL16A1 chr1 32150444 32150444 T C g.32150444T>C ENST00000373668.3 c.2030A>G p.Glu677Gly missense_variant possibly damaging SNU354 Missense Mutation OSCP1 chr1 36904361 36904361 T C g.36904361T>C ENST00000315643.9 c.293A>G p.Asp98Gly missense_variant possibly damaging SNU354 Missense Mutation HIVEP3 chr1 42049603 42049603 C T g.42049603C>T ENST00000247584.5 c.866G>A p.Ser289Asn missense_variant benign SNU354 Missense Mutation LRRC7 chr1 70504295 70504295 G A g.70504295G>A ENST00000035383.5 c.2674G>A p.Val892Ile missense_variant benign SNU354 Missense Mutation BCL10 chr1 85733414 85733414 C T g.85733414C>T ENST00000370580.1 c.598G>A p.Ala200Thr missense_variant probably damaging SNU354 Missense Mutation COL24A1 chr1 86515845 86515845 G C g.86515845G>C ENST00000370571.2 c.1867C>G p.Pro623Ala missense_variant probably damaging SNU354 Missense Mutation SLC2A5 chr1 9099643 9099643 C T g.9099643C>T ENST00000377424.4 c.964G>A p.Gly322Arg missense_variant probably damaging SNU354 Missense Mutation KIAA1107 chr1 92642596 92642596 G A g.92642596G>A ENST00000370378.4 c.532G>A p.Ala178Thr missense_variant benign SNU354 Missense Mutation H6PD chr1 9322273 9322273 C T g.9322273C>T ENST00000377403.2 c.901C>T p.Arg301Trp missense_variant benign SNU354 Missense Mutation TAF5 chr10 105138161 105138161 G A g.105138161G>A ENST00000351396.4 c.967G>A p.Glu323Lys missense_variant probably damaging SNU354 Missense Mutation VWA2 chr10 116048897 116048897 C T g.116048897C>T ENST00000392982.3 c.1771C>T p.R591W missense_variant probably damaging SNU354 Missense Mutation AFAP1L2 chr10 116056843 116056843 G C g.116056843G>C ENST00000304129.4 c.2324C>G p.Pro775Arg missense_variant probably damaging SNU354 Missense Mutation MLLT10 chr10 21970295 21970295 C G g.21970295C>G ENST00000307729.7 c.1656C>G p.Cys552Trp missense_variant possibly damaging SNU354 Missense Mutation PARD3 chr10 34625160 34625160 T A g.34625160T>A ENST00000346874.4 c.2581A>T p.Thr861Ser missense_variant benign SNU354 Missense Mutation TUBAL3 chr10 5435632 5435632 G A g.5435632G>A ENST00000380419.3 c.1189C>T p.Arg397Cys missense_variant probably damaging SNU354 Missense Mutation FAM208B chr10 5788340 5788340 A T g.5788340A>T ENST00000328090.5 c.2956A>T p.Ser986Cys missense_variant probably damaging SNU354 Missense Mutation FAM208B chr10 5790116 5790116 C T g.5790116C>T ENST00000328090.5 c.4732C>T p.Pro1578Ser missense_variant benign SNU354 Missense Mutation CDH23 chr10 73405729 73405729 G A g.73405729G>A ENST00000224721.6 c.1297G>A p.Asp433Asn missense_variant possibly damaging SNU354 Missense Mutation ALKBH8 chr11 107427547 107427547 T A g.107427547T>A ENST00000260318.2 c.312A>T p.Glu104Asp missense_variant,NMD_transcript_variant benign SNU354 Missense Mutation EXPH5 chr11 108383922 108383922 C G g.108383922C>G ENST00000265843.4 c.2312G>C p.Arg771Thr missense_variant possibly damaging SNU354 Missense Mutation HYOU1 chr11 118918699 118918699 C T g.118918699C>T ENST00000404233.3 c.2470G>A p.Ala824Thr missense_variant probably damaging SNU354 Missense Mutation RNF26 chr11 119206441 119206441 G C g.119206441G>C ENST00000311413.4 c.609G>C p.Trp203Cys missense_variant possibly damaging SNU354 Missense Mutation USP47 chr11 11971505 11971505 A G g.11971505A>G ENST00000339865.5 c.3214A>G p.Ile1072Val missense_variant benign SNU354 Missense Mutation LOC729159 chr16 60393308 60393308 G A g.60393308G>A NM_001282301.2 c.299C>T p.S100L missense_variant NA SNU354 Missense Mutation ESAM chr11 124628322 124628322 C T g.124628322C>T ENST00000278927.5 c.172G>A p.Gly58Arg missense_variant benign SNU354 Missense Mutation ZDHHC13 chr11 19174191 19174191 A G g.19174191A>G ENST00000446113.2 c.833A>G p.Asn278Ser missense_variant possibly damaging SNU354 Missense Mutation TTC17 chr11 43515397 43515397 C A g.43515397C>A ENST00000039989.4 c.3369C>A p.Asn1123Lys missense_variant benign SNU354 Missense Mutation AMBRA1 chr11 46569879 46569879 G A g.46569879G>A ENST00000298834.3 c.52C>T p.Arg18Trp missense_variant probably damaging SNU354 Missense Mutation CLP1 chr11 57427471 57427471 G C g.57427471G>C ENST00000525602.1 c.523G>C p.Glu175Gln missense_variant probably damaging SNU354 Missense Mutation SCGB1D1 chr11 61960880 61960880 G A g.61960880G>A ENST00000306238.3 c.253G>A p.Ala85Thr missense_variant benign SNU354 Missense Mutation BATF2 chr11 64756927 64756927 G A g.64756927G>A ENST00000301887.4 c.499C>T p.Pro167Ser missense_variant benign SNU354 Missense Mutation OR2AG2 chr11 6789341 6789341 G A g.6789341G>A ENST00000338569.2 c.848C>T p.Pro283Leu missense_variant probably damaging SNU354 Missense Mutation FAT3 chr11 92533002 92533002 T G g.92533002T>G ENST00000298047.6 c.6823T>G p.Leu2275Val missense_variant benign SNU354 Missense Mutation MTNR1B chr11 92714684 92714684 G C g.92714684G>C ENST00000257068.2 c.295G>C p.Val99Leu missense_variant benign SNU354 Missense Mutation WNK1 chr12 1005630 1005630 A T g.1005630A>T ENST00000315939.6 c.5977A>T p.Ile1993Leu missense_variant benign SNU354 Missense Mutation ARL1 chr12 101794931 101794931 T C g.101794931T>C ENST00000261636.8 c.245A>G p.Tyr82Cys missense_variant probably damaging SNU354 Missense Mutation PAH chr12 103237500 103237500 G C g.103237500G>C ENST00000553106.1 c.1123C>G p.Gln375Glu missense_variant probably damaging SNU354 Missense Mutation YBX3 chr12 10865859 10865859 C T g.10865859C>T ENST00000228251.4 c.524G>A p.Arg175His missense_variant probably damaging SNU354 Missense Mutation EP400 chr12 132514298 132514298 C T g.132514298C>T ENST00000389562.2 c.5431C>T p.Pro1811Ser missense_variant benign SNU354 Missense Mutation SLC2A13 chr12 40345081 40345081 G A g.40345081G>A ENST00000280871.4 c.1012C>T p.Leu338Phe missense_variant benign SNU354 Missense Mutation GALNT8 chr12 4853697 4853697 C T g.4853697C>T ENST00000252318.2 c.691C>T p.His231Tyr missense_variant benign SNU354 Missense Mutation KMT2D chr12 49427157 49427157 C T g.49427157C>T ENST00000301067.7 c.11331G>A p.Met3777Ile missense_variant benign SNU354 Missense Mutation KRT77 chr12 53088562 53088562 C A g.53088562C>A ENST00000341809.3 c.928G>T p.Val310Leu missense_variant benign SNU354 Missense Mutation KRT8 chr12 53292590 53292590 C T g.53292590C>T ENST00000293308.6 c.1075G>A p.Ala359Thr missense_variant benign SNU354 Missense Mutation OR6C70 chr12 55863673 55863673 C A g.55863673C>A ENST00000327335.4 c.250G>T p.Val84Phe missense_variant benign SNU354 Missense Mutation TIMELESS chr12 56811981 56811981 C G g.56811981C>G ENST00000553532.1 c.3391G>C p.Ala1131Pro missense_variant possibly damaging SNU354 Missense Mutation AVIL chr12 58204258 58204258 T G g.58204258T>G ENST00000257861.3 c.635A>C p.Lys212Thr missense_variant benign SNU354 Missense Mutation VWF chr12 6167131 6167131 G A g.6167131G>A ENST00000261405.5 c.1613C>T p.Pro538Leu missense_variant probably damaging SNU354 Missense Mutation PAWR chr12 79990357 79990357 A C g.79990357A>C ENST00000328827.4 c.765T>G p.Asp255Glu missense_variant possibly damaging SNU354 Missense Mutation PTPRQ chr12 81026012 81026012 G T g.81026012G>T ENST00000266688.5 c.5716G>T p.V1906F missense_variant probably damaging SNU354 Missense Mutation PPFIA2 chr12 81799624 81799624 C T g.81799624C>T ENST00000548586.1 c.704G>A p.Gly235Glu missense_variant benign SNU354 Missense Mutation COL4A2 chr13 111117765 111117765 A G g.111117765A>G ENST00000360467.5 c.1790A>G p.Lys597Arg missense_variant benign SNU354 Missense Mutation CDC16 chr13 115028364 115028364 G A g.115028364G>A ENST00000356221.3 c.1387G>A p.Glu463Lys missense_variant benign SNU354 Missense Mutation IL17D chr13 21295926 21295926 G A g.21295926G>A ENST00000304920.3 c.442G>A p.Ala148Thr missense_variant possibly damaging SNU354 Missense Mutation RNF6 chr13 26788055 26788055 T C g.26788055T>C ENST00000346166.3 c.1964A>G p.His655Arg missense_variant probably damaging SNU354 Missense Mutation PROSER1 chr13 39588100 39588100 G A g.39588100G>A ENST00000352251.3 c.1289C>T p.Ala430Val missense_variant benign SNU354 Missense Mutation WDFY2 chr13 52293441 52293441 C T g.52293441C>T ENST00000298125.5 c.442C>T p.Arg148Cys missense_variant probably damaging SNU354 Missense Mutation ATP7B chr13 52544745 52544745 C T g.52544745C>T ENST00000242839.4 c.1426G>A p.Ala476Thr missense_variant benign SNU354 Missense Mutation NEK3 chr13 52728106 52728106 A G g.52728106A>G ENST00000258597.5 c.233T>C p.Val78Ala missense_variant,NMD_transcript_variant probably damaging SNU354 Missense Mutation LMO7 chr13 76381794 76381794 G A g.76381794G>A ENST00000321797.8 c.676G>A p.Glu226Lys missense_variant probably damaging SNU354 Missense Mutation RBM26 chr13 79915351 79915351 T A g.79915351T>A ENST00000267229.7 c.2358A>T p.Glu786Asp missense_variant benign SNU354 Missense Mutation ABCC4 chr13 95839040 95839040 C T g.95839040C>T ENST00000376887.4 c.1460G>A p.Gly487Glu missense_variant probably damaging SNU354 Missense Mutation RNASE3 chr14 21360161 21360161 C A g.21360161C>A ENST00000304639.3 c.316C>A p.Pro106Thr missense_variant probably damaging SNU354 Missense Mutation OR10G2 chr14 22102530 22102530 C T g.22102530C>T ENST00000542433.1 c.469G>A p.Gly157Ser missense_variant probably damaging SNU354 Missense Mutation PCNXL4 chr14 60581445 60581445 A C g.60581445A>C ENST00000317623.4 c.15A>C p.Glu5Asp missense_variant benign SNU354 Missense Mutation TRMT5 chr14 61444327 61444327 T C g.61444327T>C ENST00000261249.6 c.697A>G p.Ile233Val missense_variant benign SNU354 Missense Mutation LRRK1 chr15 101567931 101567931 A G g.101567931A>G ENST00000388948.3 c.2615A>G p.Asp872Gly missense_variant probably damaging SNU354 Missense Mutation C15orf41 chr15 36936489 36936489 G C g.36936489G>C ENST00000437989.2 c.112G>C p.Ala38Pro missense_variant possibly damaging SNU354 Missense Mutation PAK6 chr15 40564612 40564612 C T g.40564612C>T ENST00000260404.4 c.1046C>T p.Ala349Val missense_variant probably damaging SNU354 Missense Mutation TMC3 chr15 81625383 81625383 C A g.81625383C>A ENST00000359440.5 c.2680G>T p.Asp894Tyr missense_variant probably damaging SNU354 Missense Mutation RGMA chr15 93616955 93616955 T C g.93616955T>C ENST00000557301.1 c.31A>G p.Thr11Ala missense_variant benign SNU354 Missense Mutation WDR90 chr16 708905 708905 G A g.708905G>A ENST00000293879.4 c.2905G>A p.Gly969Ser missense_variant probably damaging SNU354 Missense Mutation HP chr16 72094763 72094763 G T g.72094763G>T ENST00000355906.5 c.1195G>T p.Val399Phe missense_variant probably damaging SNU354 Missense Mutation GLG1 chr16 74525088 74525088 C A g.74525088C>A ENST00000205061.5 c.1260G>T p.Gln420His missense_variant probably damaging SNU354 Missense Mutation CENPN chr16 81045649 81045649 A C g.81045649A>C ENST00000299572.5 c.105A>C p.Gln35His missense_variant probably damaging SNU354 Missense Mutation ATMIN chr16 81077338 81077338 A G g.81077338A>G ENST00000299575.4 c.1235A>G p.Asn412Ser missense_variant possibly damaging SNU354 Missense Mutation KCNG4 chr16 84256130 84256130 G A g.84256130G>A ENST00000308251.4 c.1253C>T p.Thr418Met missense_variant probably damaging SNU354 Missense Mutation CA5A chr16 87935523 87935523 G C g.87935523G>C ENST00000309893.2 c.613C>G p.His205Asp missense_variant probably damaging SNU354 Missense Mutation PIEZO1 chr16 88782216 88782216 C T g.88782216C>T ENST00000301015.9 c.7363G>A p.Val2455Met missense_variant possibly damaging SNU354 Missense Mutation ANKRD11 chr16 89346486 89346486 G A g.89346486G>A ENST00000301030.4 c.6464C>T p.Pro2155Leu missense_variant benign SNU354 Missense Mutation VPS9D1 chr16 89778374 89778374 C A g.89778374C>A ENST00000389386.3 c.663G>T p.Arg221Ser missense_variant probably damaging SNU354 Missense Mutation WDR81 chr17 1629544 1629544 G A g.1629544G>A ENST00000409644.1 c.1291G>A p.Gly431Ser missense_variant benign SNU354 Missense Mutation TOM1L2 chr17 17754256 17754256 G A g.17754256G>A ENST00000379504.3 c.1289C>T p.Ala430Val missense_variant benign SNU354 Missense Mutation OR3A3 chr17 3324334 3324334 G T g.3324334G>T ENST00000291231.1 c.473G>T p.Trp158Leu missense_variant benign SNU354 Missense Mutation MED1 chr17 37579663 37579663 G A g.37579663G>A ENST00000300651.6 c.1012C>T p.Pro338Ser missense_variant probably damaging SNU354 Missense Mutation KRT39 chr17 39122804 39122804 A G g.39122804A>G ENST00000355612.2 c.305T>C p.Ile102Thr missense_variant benign SNU354 Missense Mutation PSMC3IP chr17 40725339 40725339 C T g.40725339C>T ENST00000393795.3 c.527G>A p.Arg176Lys missense_variant probably damaging SNU354 Missense Mutation EZH1 chr17 40880869 40880869 G A g.40880869G>A ENST00000415827.2 c.91C>T p.Arg31Trp missense_variant possibly damaging SNU354 Missense Mutation OSBPL7 chr17 45886525 45886525 C T g.45886525C>T ENST00000007414.3 c.2087G>A p.Arg696His missense_variant probably damaging SNU354 Missense Mutation PPP1R9B chr17 48226689 48226689 G A g.48226689G>A ENST00000316878.6 c.1184C>T p.A395V missense_variant probably damaging SNU354 Missense Mutation PRR11 chr17 57272206 57272206 A G g.57272206A>G ENST00000262293.4 c.734A>G p.Glu245Gly missense_variant probably damaging SNU354 Missense Mutation PSMC5 chr17 61908884 61908884 A C g.61908884A>C ENST00000310144.6 c.988A>C p.Lys330Gln missense_variant benign SNU354 Missense Mutation CDR2L chr17 72999438 72999438 G A g.72999438G>A ENST00000337231.5 c.667G>A p.Val223Met missense_variant probably damaging SNU354 Missense Mutation HN1 chr17 73132292 73132292 C T g.73132292C>T ENST00000409753.3 c.370G>A p.Val124Met missense_variant benign SNU354 Missense Mutation TSEN54 chr17 73517988 73517988 G A g.73517988G>A ENST00000333213.6 c.826G>A p.Gly276Arg missense_variant benign SNU354 Missense Mutation WBP2 chr17 73851375 73851375 C T g.73851375C>T ENST00000254806.3 c.4G>A p.Ala2Thr missense_variant benign SNU354 Missense Mutation TBC1D16 chr17 77984395 77984395 G A g.77984395G>A ENST00000310924.2 c.343C>T p.Arg115Cys missense_variant probably damaging SNU354 Missense Mutation LRRC45 chr17 79987501 79987501 G A g.79987501G>A ENST00000306688.3 c.1484G>A p.Arg495His missense_variant probably damaging SNU354 Missense Mutation PER1 chr17 8051116 8051116 G A g.8051116G>A ENST00000317276.4 c.1264C>T p.His422Tyr missense_variant probably damaging SNU354 Missense Mutation ZNF519 chr18 14106339 14106339 G C g.14106339G>C ENST00000590202.1 c.200C>G p.Thr67Arg missense_variant possibly damaging SNU354 Missense Mutation AC012123.1 chr18 30352229 30352229 T C g.30352229T>C ENST00000426194.1 c.526T>C p.Ser176Pro missense_variant NA SNU354 Missense Mutation ME2 chr18 48422201 48422201 G A g.48422201G>A ENST00000321341.5 c.11G>A p.Arg4Gln missense_variant benign SNU354 Missense Mutation ENOSF1 chr18 697295 697295 A C g.697295A>C ENST00000251101.7 c.254T>G p.Val85Gly missense_variant possibly damaging SNU354 Missense Mutation TXNDC2 chr18 9886952 9886952 C A g.9886952C>A ENST00000306084.6 c.476C>A p.Pro159His missense_variant possibly damaging SNU354 Missense Mutation GADD45GIP1 chr19 13067683 13067683 C A g.13067683C>A ENST00000316939.1 c.344G>T p.Arg115Leu missense_variant benign SNU354 Missense Mutation CACNA1A chr19 13410133 13410133 A G g.13410133A>G ENST00000360228.5 c.2314T>C p.Ser772Pro missense_variant possibly damaging SNU354 Missense Mutation CC2D1A chr19 14040912 14040912 G A g.14040912G>A ENST00000318003.7 c.2732G>A p.Arg911Gln missense_variant possibly damaging SNU354 Missense Mutation ZNF333 chr19 14829284 14829284 T C g.14829284T>C ENST00000292530.6 c.1145T>C p.Ile382Thr missense_variant benign SNU354 Missense Mutation MED26 chr19 16687463 16687463 T C g.16687463T>C ENST00000263390.3 c.1178A>G p.Lys393Arg missense_variant probably damaging SNU354 Missense Mutation MYO9B chr19 17305892 17305892 C T g.17305892C>T ENST00000397274.2 c.3656C>T p.Thr1219Ile missense_variant benign SNU354 Missense Mutation IL12RB1 chr19 18177451 18177451 C A g.18177451C>A ENST00000593993.2 c.1384G>T p.Val462Leu missense_variant probably damaging SNU354 Missense Mutation SLC7A9 chr19 33359416 33359416 G A g.33359416G>A ENST00000023064.4 c.25C>T p.Arg9Trp missense_variant probably damaging SNU354 Missense Mutation SBSN chr19 36018169 36018169 C T g.36018169C>T ENST00000452271.2 c.1015G>A p.Gly339Ser missense_variant benign SNU354 Missense Mutation ZNF585B chr19 37676673 37676673 C T g.37676673C>T ENST00000532828.2 c.1766G>A p.Arg589His missense_variant probably damaging SNU354 Missense Mutation ZNF793 chr19 38028242 38028242 G A g.38028242G>A ENST00000445217.1 c.682G>A p.Val228Ile missense_variant benign SNU354 Missense Mutation ZNF540 chr19 38104066 38104066 C A g.38104066C>A ENST00000316433.4 c.1885C>A p.His629Asn missense_variant possibly damaging SNU354 Missense Mutation WDR87 chr19 38385951 38385951 C T g.38385951C>T ENST00000303868.5 c.275G>A p.Arg92Gln missense_variant probably damaging SNU354 Missense Mutation DPF1 chr19 38709577 38709577 G T g.38709577G>T ENST00000355526.4 c.501C>A p.Asp167Glu missense_variant benign SNU354 Missense Mutation SPINT2 chr19 38779786 38779786 A G g.38779786A>G ENST00000301244.7 c.346A>G p.Arg116Gly missense_variant benign SNU354 Missense Mutation LYPD5 chr19 44302985 44302985 C A g.44302985C>A ENST00000377950.3 c.349G>T p.Ala117Ser missense_variant benign SNU354 Missense Mutation CCDC114 chr19 48807252 48807252 G A g.48807252G>A ENST00000315396.7 c.700C>T p.Arg234Trp missense_variant probably damaging SNU354 Missense Mutation MADCAM1 chr19 504867 504867 G A g.504867G>A ENST00000215637.3 c.1051G>A p.Asp351Asn missense_variant possibly damaging SNU354 Missense Mutation SPIB chr19 50923207 50923207 G A g.50923207G>A ENST00000270632.7 c.28G>A p.Asp10Asn missense_variant probably damaging SNU354 Missense Mutation SHANK1 chr19 51165632 51165632 C T g.51165632C>T ENST00000293441.1 c.6076G>A p.Gly2026Arg missense_variant benign SNU354 Missense Mutation LENG9 chr19 54974729 54974729 G T g.54974729G>T ENST00000333834.4 c.47C>A p.Ala16Glu missense_variant possibly damaging SNU354 Missense Mutation GP6 chr19 55543882 55543882 G T g.55543882G>T ENST00000310373.3 c.59C>A p.Ala20Glu missense_variant possibly damaging SNU354 Missense Mutation USP29 chr19 57641342 57641342 G T g.57641342G>T ENST00000254181.4 c.1299G>T p.Gln433His missense_variant benign SNU354 Missense Mutation ZNF154 chr19 58213953 58213953 C T g.58213953C>T ENST00000426889.1 c.364G>A p.Gly122Ser missense_variant benign SNU354 Missense Mutation ZSCAN1 chr19 58549561 58549561 G A g.58549561G>A ENST00000282326.1 c.357G>A p.Met119Ile missense_variant benign SNU354 Missense Mutation POLRMT chr19 619597 619597 C T g.619597C>T ENST00000588649.2 c.3055G>A p.Asp1019Asn missense_variant possibly damaging SNU354 Missense Mutation INSR chr19 7267759 7267759 C A g.7267759C>A ENST00000302850.5 c.249G>T p.Met83Ile missense_variant benign SNU354 Missense Mutation MUC16 chr19 9072085 9072085 T C g.9072085T>C ENST00000397910.4 c.15361A>G p.Ile5121Val missense_variant benign SNU354 Missense Mutation ZNF560 chr19 9578511 9578511 A G g.9578511A>G ENST00000301480.4 c.1112T>C p.Ile371Thr missense_variant benign SNU354 Missense Mutation NPAS2 chr2 101591380 101591380 C T g.101591380C>T ENST00000335681.5 c.1256C>T p.Ser419Leu missense_variant benign SNU354 Missense Mutation PCDP1 chr2 120373268 120373268 C G g.120373268C>G ENST00000413369.3 c.1393C>G p.Q465E missense_variant probably damaging SNU354 Missense Mutation IWS1 chr2 128261107 128261107 C A g.128261107C>A ENST00000295321.4 c.1265G>T p.Ser422Ile missense_variant probably damaging SNU354 Missense Mutation GALNT5 chr2 158114759 158114759 A G g.158114759A>G ENST00000259056.4 c.165A>G p.Ile55Met missense_variant benign SNU354 Missense Mutation ITGB6 chr2 160982996 160982996 C T g.160982996C>T ENST00000283249.2 c.1777G>A p.Gly593Arg missense_variant probably damaging SNU354 Missense Mutation CSRNP3 chr2 166535354 166535354 G T g.166535354G>T ENST00000314499.7 c.849G>T p.Gln283His missense_variant probably damaging SNU354 Missense Mutation FASTKD1 chr2 170387944 170387944 T C g.170387944T>C ENST00000453153.2 c.2245A>G p.Ile749Val missense_variant benign SNU354 Missense Mutation TTN chr2 179430744 179430744 C A g.179430744C>A ENST00000591111.1 c.75192G>T p.Glu25064Asp missense_variant benign SNU354 Missense Mutation TTN chr2 179584002 179584002 C T g.179584002C>T ENST00000591111.1 c.23164G>A p.Val7722Ile missense_variant benign SNU354 Missense Mutation TTN chr2 179631326 179631326 T C g.179631326T>C ENST00000342992.6 c.9485A>G p.Gln3162Arg missense_variant probably damaging SNU354 Missense Mutation SDPR chr2 192700689 192700689 G A g.192700689G>A ENST00000304141.4 c.1238C>T p.Pro413Leu missense_variant benign SNU354 Missense Mutation APOB chr2 21230547 21230547 T C g.21230547T>C ENST00000233242.1 c.9193A>G p.Thr3065Ala missense_variant benign SNU354 Missense Mutation APOB chr2 21247843 21247843 G T g.21247843G>T ENST00000233242.1 c.2398C>A p.Leu800Met missense_variant possibly damaging SNU354 Missense Mutation ERBB4 chr2 212812293 212812293 G A g.212812293G>A ENST00000342788.4 c.283C>T p.Arg95Cys missense_variant probably damaging SNU354 Missense Mutation ZNF718 chr4 155616 155616 A G g.155616A>G NM_001039127.3 c.952A>G p.Thr318Ala missense_variant benign SNU354 Missense Mutation ABCA12 chr2 215845211 215845211 T C g.215845211T>C ENST00000272895.7 c.4736A>G p.Lys1579Arg missense_variant probably damaging SNU354 Missense Mutation ATIC chr2 216191608 216191608 A G g.216191608A>G ENST00000236959.9 c.595A>G p.Lys199Glu missense_variant benign SNU354 Missense Mutation CCDC108 chr2 219886550 219886550 G A g.219886550G>A ENST00000341552.5 c.3082C>T p.Leu1028Phe missense_variant probably damaging SNU354 Missense Mutation OBSL1 chr2 220435362 220435362 G T g.220435362G>T ENST00000265318.4 c.593C>A p.Ala198Glu missense_variant probably damaging SNU354 Missense Mutation MOGAT1 chr2 223559900 223559900 A G g.223559900A>G ENST00000446656.3 c.746A>G p.Asn249Ser missense_variant benign SNU354 Missense Mutation AC106876.2 chr2 233877644 233877644 T C g.233877644T>C ENST00000409905.1 c.83T>C p.Phe28Ser missense_variant NA SNU354 Missense Mutation COL6A3 chr2 238283448 238283448 G A g.238283448G>A ENST00000295550.4 c.3286C>T p.Arg1096Cys missense_variant probably damaging SNU354 Missense Mutation KIF1A chr2 241706365 241706365 C T g.241706365C>T ENST00000320389.7 c.1624G>A p.Val542Ile missense_variant benign SNU354 Missense Mutation C2orf54 chr2 241835186 241835186 C T g.241835186C>T ENST00000388934.4 c.229G>A p.Asp77Asn missense_variant possibly damaging SNU354 Missense Mutation ALK chr2 29416380 29416380 T C g.29416380T>C ENST00000389048.3 c.4573A>G p.Lys1525Glu missense_variant benign SNU354 Missense Mutation LHCGR chr2 48915224 48915224 A G g.48915224A>G ENST00000294954.7 c.1712T>C p.Met571Thr missense_variant probably damaging SNU354 Missense Mutation REL chr2 61149108 61149108 C T g.61149108C>T ENST00000295025.8 c.1298C>T p.Thr433Ile missense_variant possibly damaging SNU354 Missense Mutation PLEK chr2 68613642 68613642 G C g.68613642G>C ENST00000234313.7 c.481G>C p.Val161Leu missense_variant probably damaging SNU354 Missense Mutation GMCL1 chr2 70096990 70096990 C T g.70096990C>T ENST00000282570.3 c.1358C>T p.Ala453Val missense_variant benign SNU354 Missense Mutation RTKN chr2 74659787 74659787 C G g.74659787C>G ENST00000272430.5 c.118G>C p.Glu40Gln missense_variant probably damaging SNU354 Missense Mutation FAM178B chr2 97633341 97633341 C T g.97633341C>T ENST00000490605.2 c.650G>A p.Arg217Gln missense_variant benign SNU354 Missense Mutation NFS1 chr20 34257566 34257566 C T g.34257566C>T ENST00000374092.4 c.1352G>A p.Ser451Asn missense_variant benign SNU354 Missense Mutation ADAM33 chr20 3649994 3649994 T A g.3649994T>A ENST00000356518.2 c.2356A>T p.Ser786Cys missense_variant probably damaging SNU354 Missense Mutation KIAA1755 chr20 36841568 36841568 C T g.36841568C>T ENST00000279024.4 c.3479G>A p.Arg1160Gln missense_variant benign SNU354 Missense Mutation TRIB3 chr20 371983 371983 C G g.371983C>G ENST00000217233.3 c.344C>G p.Pro115Arg missense_variant probably damaging SNU354 Missense Mutation AP5S1 chr20 3804690 3804690 G C g.3804690G>C ENST00000246041.2 c.349G>C p.Val117Leu missense_variant benign SNU354 Missense Mutation CTSA chr20 44523720 44523720 G A g.44523720G>A ENST00000191018.5 c.1036G>A p.Val346Met missense_variant probably damaging SNU354 Missense Mutation CRLS1 chr20 5986938 5986938 G T g.5986938G>T ENST00000378863.4 c.46G>T p.Gly16Cys missense_variant benign SNU354 Missense Mutation RBBP8NL chr20 60991235 60991235 C T g.60991235C>T ENST00000252998.1 c.371G>A p.Arg124Gln missense_variant benign SNU354 Missense Mutation HELZ2 chr20 62200057 62200057 C G g.62200057C>G ENST00000467148.1 c.1384G>C p.Glu462Gln missense_variant benign SNU354 Missense Mutation GABPA chr21 27117541 27117541 C T g.27117541C>T ENST00000354828.3 c.98C>T p.Ala33Val missense_variant benign SNU354 Missense Mutation C21orf140 chr21 35773088 35773088 C T g.35773088C>T ENST00000410005.1 c.283G>A p.Glu95Lys missense_variant damaging SNU354 Missense Mutation CBS chr21 44485516 44485516 T C g.44485516T>C ENST00000352178.5 c.647A>G p.Asn216Ser missense_variant possibly damaging SNU354 Missense Mutation KRTAP10-1 chr21 45959451 45959451 T C g.45959451T>C ENST00000400375.1 c.583A>G p.Lys195Glu missense_variant benign SNU354 Missense Mutation KRTAP12-1 chr21 46102016 46102016 G A g.46102016G>A ENST00000391617.1 c.23C>T p.Ser8Leu missense_variant benign SNU354 Missense Mutation MCM3AP chr21 47674736 47674736 T C g.47674736T>C ENST00000291688.1 c.3955A>G p.Thr1319Ala missense_variant benign SNU354 Missense Mutation ZDHHC8 chr22 20130758 20130758 G T g.20130758G>T ENST00000334554.7 c.1605G>T p.Glu535Asp missense_variant benign SNU354 Missense Mutation SPECC1L chr22 24717843 24717843 A G g.24717843A>G ENST00000314328.9 c.895A>G p.Thr299Ala missense_variant benign SNU354 Missense Mutation MYO18B chr22 26231363 26231363 T C g.26231363T>C ENST00000335473.7 c.3161T>C p.Leu1054Pro missense_variant probably damaging SNU354 Missense Mutation RNF215 chr22 30782688 30782688 C G g.30782688C>G ENST00000382363.3 c.346G>C p.Val116Leu missense_variant probably damaging SNU354 Missense Mutation PRR14L chr22 32110532 32110532 C T g.32110532C>T ENST00000327423.6 c.3293G>A p.Arg1098Gln missense_variant benign SNU354 Missense Mutation TOM1 chr22 35719585 35719585 G A g.35719585G>A ENST00000411850.1 c.463G>A p.Asp155Asn missense_variant probably damaging SNU354 Missense Mutation CPT1B chr22 51007847 51007847 C T g.51007847C>T ENST00000312108.7 c.2239G>A p.Ala747Thr missense_variant probably damaging SNU354 Missense Mutation GPR128 chr3 100413645 100413645 T G g.100413645T>G ENST00000273352.3 c.2194T>G p.Ser732Ala missense_variant probably damaging SNU354 Missense Mutation DRD3 chr3 113890786 113890786 C G g.113890786C>G ENST00000295881.7 c.54G>C p.Glu18Asp missense_variant benign SNU354 Missense Mutation ALDH1L1 chr3 125872376 125872376 C T g.125872376C>T ENST00000393431.2 c.769G>A p.Glu257Lys missense_variant benign SNU354 Missense Mutation MCM2 chr3 127339695 127339695 A G g.127339695A>G ENST00000265056.7 c.2420A>G p.Lys807Arg missense_variant probably damaging SNU354 Missense Mutation SLC35G2 chr3 136573358 136573358 C G g.136573358C>G ENST00000393079.3 c.56C>G p.Pro19Arg missense_variant probably damaging SNU354 Missense Mutation RSRC1 chr3 158254970 158254970 A C g.158254970A>C ENST00000295930.3 c.742A>C p.Ser248Arg missense_variant probably damaging SNU354 Missense Mutation IL1RAP chr3 190374163 190374163 C T g.190374163C>T ENST00000317757.3 c.1831C>T p.Arg611Cys missense_variant damaging SNU354 Missense Mutation STAC chr3 36526512 36526512 A G g.36526512A>G ENST00000273183.3 c.533A>G p.His178Arg missense_variant benign SNU354 Missense Mutation MLH1 chr3 37053562 37053562 C T g.37053562C>T ENST00000231790.2 c.649C>T p.Arg217Cys missense_variant probably damaging SNU354 Missense Mutation GOLGA4 chr3 37366667 37366667 T C g.37366667T>C ENST00000361924.2 c.3290T>C p.Leu1097Pro missense_variant probably damaging SNU354 Missense Mutation SCN11A chr3 38888541 38888541 T C g.38888541T>C ENST00000302328.3 c.5020A>G p.Met1674Val missense_variant benign SNU354 Missense Mutation ZKSCAN7 chr3 44611558 44611558 T C g.44611558T>C ENST00000273320.3 c.956T>C p.Phe319Ser missense_variant benign SNU354 Missense Mutation RTP3 chr3 46541965 46541965 G T g.46541965G>T ENST00000296142.3 c.275G>T p.Arg92Ile missense_variant probably damaging SNU354 Missense Mutation ITPR1 chr3 4699844 4699844 C T g.4699844C>T ENST00000302640.8 c.988C>T p.Arg330Trp missense_variant benign SNU354 Missense Mutation IP6K1 chr3 49764722 49764722 G A g.49764722G>A ENST00000321599.4 c.1159C>T p.Pro387Ser missense_variant benign SNU354 Missense Mutation BAP1 chr3 52438551 52438551 G T g.52438551G>T ENST00000460680.1 c.1168C>A p.Pro390Thr missense_variant benign SNU354 Missense Mutation NEK4 chr3 52797520 52797520 G A g.52797520G>A ENST00000233027.5 c.787C>T p.Arg263Trp missense_variant probably damaging SNU354 Missense Mutation ROBO1 chr3 78987969 78987969 C T g.78987969C>T ENST00000464233.1 c.281G>A p.Arg94His missense_variant probably damaging SNU354 Missense Mutation SEC24B chr4 110448538 110448538 T C g.110448538T>C ENST00000265175.5 c.3026T>C p.Val1009Ala missense_variant probably damaging SNU354 Missense Mutation SPON2 chr4 1165723 1165723 G A g.1165723G>A ENST00000290902.5 c.137C>T p.Thr46Ile missense_variant possibly damaging SNU354 Missense Mutation SMARCA5 chr4 144468630 144468630 A C g.144468630A>C ENST00000283131.3 c.2746A>C p.Ser916Arg missense_variant benign SNU354 Missense Mutation DCHS2 chr4 155157594 155157594 G T g.155157594G>T ENST00000357232.4 c.6845C>A p.Thr2282Asn missense_variant probably damaging SNU354 Missense Mutation PLRG1 chr4 155459174 155459174 T G g.155459174T>G ENST00000393905.2 c.1238A>C p.Asn413Thr missense_variant benign SNU354 Missense Mutation FBXL5 chr4 15607371 15607371 C A g.15607371C>A ENST00000341285.3 c.2051G>T p.Arg684Leu missense_variant probably damaging SNU354 Missense Mutation TLR3 chr4 186997807 186997807 G C g.186997807G>C ENST00000296795.3 c.34G>C p.Gly12Arg missense_variant benign SNU354 Missense Mutation KLB chr4 39436275 39436275 G A g.39436275G>A ENST00000257408.4 c.1271G>A p.Arg424His missense_variant benign SNU354 Missense Mutation AASDH chr4 57204921 57204921 A G g.57204921A>G ENST00000205214.6 c.2944T>C p.Ser982Pro missense_variant probably damaging SNU354 Missense Mutation AASDH chr4 57215597 57215597 C T g.57215597C>T ENST00000205214.6 c.2320G>A p.Val774Ile missense_variant benign SNU354 Missense Mutation HERC6 chr4 89363448 89363448 C T g.89363448C>T ENST00000264346.7 c.2905C>T p.Arg969Cys missense_variant benign SNU354 Missense Mutation SLC6A19 chr5 1208876 1208876 C T g.1208876C>T ENST00000304460.10 c.218C>T p.Pro73Leu missense_variant probably damaging SNU354 Missense Mutation CHSY3 chr5 129240751 129240751 C T g.129240751C>T ENST00000305031.4 c.229C>T p.Pro77Ser missense_variant benign SNU354 Missense Mutation SHROOM1 chr5 132159168 132159168 G T g.132159168G>T ENST00000319854.3 c.2000C>A p.Thr667Lys missense_variant benign SNU354 Missense Mutation PCDHB6 chr5 140530497 140530497 C T g.140530497C>T ENST00000231136.1 c.659C>T p.Pro220Leu missense_variant benign SNU354 Missense Mutation PCDHB12 chr5 140588823 140588823 A G g.140588823A>G ENST00000239450.2 c.344A>G p.Gln115Arg missense_variant benign SNU354 Missense Mutation PPP2R2B chr5 146077695 146077695 C A g.146077695C>A ENST00000356826.3 c.181G>T p.Val127Phe missense_variant benign SNU354 Missense Mutation SLIT3 chr5 168244406 168244406 C T g.168244406C>T ENST00000332966.8 c.692G>A p.Arg231Gln missense_variant probably damaging SNU354 Missense Mutation FLT4 chr5 180048787 180048787 C T g.180048787C>T ENST00000261937.6 c.1775G>A p.Arg592His missense_variant probably damaging SNU354 Missense Mutation C9 chr5 39331812 39331812 C T g.39331812C>T ENST00000263408.4 c.581G>A p.Arg194Gln missense_variant probably damaging SNU354 Missense Mutation MSH3 chr5 80168985 80168985 A G g.80168985A>G ENST00000265081.6 c.3181A>G p.Arg1061Gly missense_variant benign SNU354 Missense Mutation RASGRF2 chr5 80376574 80376574 T C g.80376574T>C ENST00000265080.4 c.1127T>C p.Met376Thr missense_variant benign SNU354 Missense Mutation GPR98 chr5 89941809 89941809 A G g.89941809A>G ENST00000405460.2 c.2923A>G p.Thr975Ala missense_variant possibly damaging SNU354 Missense Mutation RSPH4A chr6 116938073 116938073 C T g.116938073C>T ENST00000229554.5 c.287C>T p.Pro96Leu missense_variant benign SNU354 Missense Mutation ENPP3 chr6 131958549 131958549 A G g.131958549A>G ENST00000357639.3 c.25A>G p.Thr9Ala missense_variant benign SNU354 Missense Mutation MTFR2 chr6 136560838 136560838 G A g.136560838G>A ENST00000420702.1 c.635C>T p.Pro212Leu missense_variant probably damaging SNU354 Missense Mutation ADGB chr6 147136187 147136187 G A g.147136187G>A ENST00000397944.3 c.4838G>A p.Arg1613Gln missense_variant probably damaging SNU354 Missense Mutation FNDC1 chr6 159654494 159654494 G A g.159654494G>A ENST00000297267.9 c.2950G>A p.Ala984Thr missense_variant benign SNU354 Missense Mutation SLC22A1 chr6 160557260 160557260 C T g.160557260C>T ENST00000324965.4 c.848C>T p.Pro283Leu missense_variant probably damaging SNU354 Missense Mutation GPLD1 chr6 24450073 24450073 C T g.24450073C>T ENST00000230036.1 c.1390G>A p.Val464Met missense_variant probably damaging SNU354 Missense Mutation PNPLA1 chr6 36238385 36238385 C T g.36238385C>T ENST00000394571.2 c.149C>T p.Ala50Val missense_variant possibly damaging SNU354 Missense Mutation CMTR1 chr6 37430697 37430697 C T g.37430697C>T ENST00000373451.4 c.1418C>T p.Thr473Met missense_variant probably damaging SNU354 Missense Mutation IL17A chr6 52054023 52054023 G A g.52054023G>A ENST00000340057.1 c.401G>A p.Arg134Gln missense_variant benign SNU354 Missense Mutation FAM135A chr6 71234128 71234128 C G g.71234128C>G ENST00000418814.2 c.1341C>G p.Ser447Arg missense_variant benign SNU354 Missense Mutation C6orf57 chr6 71289179 71289179 C T g.71289179C>T ENST00000370474.3 c.127C>T p.Leu43Phe missense_variant benign SNU354 Missense Mutation TXNDC5 chr6 7883459 7883459 T C g.7883459T>C ENST00000379757.4 c.1217A>G p.Lys406Arg missense_variant benign SNU354 Missense Mutation LCA5 chr6 80197046 80197046 T C g.80197046T>C ENST00000369846.4 c.1769A>G p.Asp590Gly missense_variant benign SNU354 Missense Mutation GPR63 chr6 97246455 97246455 T C g.97246455T>C ENST00000229955.3 c.1153A>G p.Met385Val missense_variant benign SNU354 Missense Mutation DGKI chr7 137082151 137082151 C T g.137082151C>T ENST00000288490.5 c.2953G>A p.Glu985Lys missense_variant benign SNU354 Missense Mutation ZNF425 chr7 148801665 148801665 C T g.148801665C>T ENST00000378061.2 c.1298G>A p.Gly433Glu missense_variant benign SNU354 Missense Mutation PTPRN2 chr7 157370772 157370772 C T g.157370772C>T ENST00000389418.4 c.2557G>A p.Val853Ile missense_variant benign SNU354 Missense Mutation GARS chr7 30673468 30673468 G A g.30673468G>A ENST00000389266.3 c.2212G>A p.Glu738Lys missense_variant possibly damaging SNU354 Missense Mutation VPS41 chr7 38791849 38791849 C T g.38791849C>T ENST00000310301.4 c.1853G>A p.Ser618Asn missense_variant benign SNU354 Missense Mutation TNS3 chr7 47342658 47342658 G A g.47342658G>A ENST00000311160.9 c.3347C>T p.P1116L missense_variant probably damaging SNU354 Missense Mutation MRPS17 chr7 56022696 56022696 G A g.56022696G>A ENST00000285298.4 c.218G>A p.Arg73Gln missense_variant benign SNU354 Missense Mutation KDELR2 chr7 6509297 6509297 C T g.6509297C>T ENST00000258739.4 c.281G>A p.Arg94Gln missense_variant probably damaging SNU354 Missense Mutation COL28A1 chr7 7412847 7412847 T A g.7412847T>A ENST00000399429.3 c.2690A>T p.Lys897Ile missense_variant probably damaging SNU354 Missense Mutation AKAP9 chr7 91603181 91603181 A G g.91603181A>G ENST00000358100.2 c.241A>G p.Ser81Gly missense_variant benign SNU354 Missense Mutation SCRIB chr8 144890958 144890958 G A g.144890958G>A ENST00000320476.3 c.1936C>T p.His646Tyr missense_variant possibly damaging SNU354 Missense Mutation SLC7A2 chr8 17417839 17417839 A G g.17417839A>G ENST00000494857.1 c.1301A>G p.Tyr434Cys (Splice) missense_variant,splice_region_variant probably damaging SNU354 Missense Mutation TEX15 chr8 30703609 30703609 C G g.30703609C>G ENST00000256246.2 c.2925G>C p.Lys975Asn missense_variant possibly damaging SNU354 Missense Mutation LRRC69 chr8 92147926 92147926 C G g.92147926C>G ENST00000448384.2 c.610C>G p.Leu204Val missense_variant probably damaging SNU354 Missense Mutation OR13F1 chr9 107266965 107266965 G C g.107266965G>C ENST00000334726.2 c.422G>C p.Cys141Ser missense_variant probably damaging SNU354 Missense Mutation PALM2 chr9 112705112 112705112 C T g.112705112C>T ENST00000374531.2 c.547C>T p.Arg183Cys missense_variant damaging SNU354 Missense Mutation FBXW2 chr9 123550191 123550191 C T g.123550191C>T ENST00000340778.5 c.346G>A p.Ala116Thr missense_variant benign SNU354 Missense Mutation OLFML2A chr9 127549301 127549301 C G g.127549301C>G ENST00000331715.9 c.138C>G p.Asp46Glu missense_variant probably damaging SNU354 Missense Mutation NUP188 chr9 131765210 131765210 G A g.131765210G>A ENST00000372577.2 c.4252G>A p.Glu1418Lys missense_variant possibly damaging SNU354 Missense Mutation NACC2 chr9 138903675 138903675 G A g.138903675G>A ENST00000277554.2 c.1451C>T p.Pro484Leu missense_variant benign SNU354 Missense Mutation SEC16A chr9 139371540 139371540 A T g.139371540A>T ENST00000313050.7 c.528T>A p.His176Gln missense_variant benign SNU354 Missense Mutation RABL6 chr9 139731848 139731848 C T g.139731848C>T ENST00000311502.7 c.860C>T p.Ala287Val missense_variant benign SNU354 Missense Mutation MAMDC4 chr9 139747844 139747844 G A g.139747844G>A ENST00000317446.2 c.262G>A p.Asp88Asn missense_variant benign SNU354 Missense Mutation GNA14 chr9 80144026 80144026 T C g.80144026T>C ENST00000341700.6 c.268A>G p.Met90Val missense_variant benign SNU354 Missense Mutation TBC1D8B chrX 106093299 106093299 C A g.106093299C>A ENST00000357242.5 c.1882C>A p.His628Asn missense_variant benign SNU354 Missense Mutation ALG13 chrX 110954948 110954948 C T g.110954948C>T ENST00000394780.3 c.880C>T p.Pro294Ser missense_variant damaging SNU354 Missense Mutation DMD chrX 32407730 32407730 T C g.32407730T>C ENST00000357033.4 c.4406A>G p.Gln1469Arg missense_variant possibly damaging SNU354 Missense Mutation JADE3 chrX 46887348 46887348 G T g.46887348G>T ENST00000218343.4 c.530G>T p.Arg177Leu missense_variant benign SNU354 Missense Mutation GRIPAP1 chrX 48838215 48838215 C T g.48838215C>T ENST00000376441.1 c.1669G>A p.Glu557Lys missense_variant possibly damaging SNU354 Missense Mutation NAP1L2 chrX 72432966 72432966 C T g.72432966C>T ENST00000373517.3 c.1363G>A p.Val455Ile missense_variant probably damaging SNU368 Missense Mutation UBE4B chr1 10165756 10165756 C T g.10165756C>T ENST00000253251.8 c.763C>T p.Pro255Ser missense_variant probably damaging SNU368 Missense Mutation CASQ2 chr1 116280896 116280896 T G g.116280896T>G ENST00000261448.5 c.481A>C p.Ile161Leu missense_variant benign SNU368 Missense Mutation WDR3 chr1 118486168 118486168 G T g.118486168G>T ENST00000349139.5 c.1247G>T p.Ser416Ile missense_variant possibly damaging SNU368 Missense Mutation ISG20L2 chr1 156693245 156693245 T A g.156693245T>A ENST00000313146.6 c.958A>T p.Ser320Cys missense_variant probably damaging SNU368 Missense Mutation ISG20L2 chr1 156693246 156693246 C A g.156693246C>A ENST00000313146.6 c.957G>T p.Lys319Asn missense_variant benign SNU368 Missense Mutation PVRL4 chr1 161044518 161044518 C T g.161044518C>T ENST00000368012.3 c.883G>A p.Val295Met missense_variant benign SNU368 Missense Mutation DUSP27 chr1 167095864 167095864 G A g.167095864G>A ENST00000271385.5 c.1496G>A p.Ser499Asn missense_variant benign SNU368 Missense Mutation UBR4 chr1 19487604 19487604 G C g.19487604G>C ENST00000375217.2 c.5213C>G p.Ser1738Cys missense_variant probably damaging SNU368 Missense Mutation HTR6 chr1 20005620 20005620 G A g.20005620G>A ENST00000289753.1 c.1082G>A p.Arg361Gln missense_variant benign SNU368 Missense Mutation TMCO4 chr1 20097862 20097862 A G g.20097862A>G ENST00000294543.6 c.293T>C p.Val98Ala missense_variant benign SNU368 Missense Mutation SLC26A9 chr1 205901160 205901160 G T g.205901160G>T ENST00000340781.4 c.380C>A p.Thr127Asn missense_variant probably damaging SNU368 Missense Mutation PIGR chr1 207106335 207106335 C T g.207106335C>T ENST00000356495.4 c.1882G>A p.Gly628Ser missense_variant benign SNU368 Missense Mutation RAP1GAP chr1 21930396 21930396 T C g.21930396T>C ENST00000374763.2 c.1438A>G p.Ile480Val missense_variant damaging SNU368 Missense Mutation CAPN2 chr1 223905492 223905492 T C g.223905492T>C ENST00000295006.5 c.266T>C p.Ile89Thr missense_variant benign SNU368 Missense Mutation DNAH14 chr1 225284926 225284926 C T g.225284926C>T ENST00000430092.1 c.3680C>T p.Ser1227Phe missense_variant probably damaging SNU368 Missense Mutation DNAH14 chr1 225534194 225534194 T C g.225534194T>C ENST00000430092.1 c.10855T>C p.Cys3619Arg missense_variant probably damaging SNU368 Missense Mutation OBSCN chr1 228463548 228463548 C A g.228463548C>A ENST00000284548.11 c.6041C>A p.Pro2014Gln missense_variant probably damaging SNU368 Missense Mutation OBSCN chr1 228560647 228560647 T C g.228560647T>C ENST00000422127.1 c.22168T>C p.Ser7390Pro missense_variant benign SNU368 Missense Mutation URB2 chr1 229773793 229773793 A G g.229773793A>G ENST00000258243.2 c.3433A>G p.Arg1145Gly missense_variant benign SNU368 Missense Mutation TSNAX chr1 231673018 231673018 C T g.231673018C>T ENST00000366639.4 c.181C>T p.Arg61Trp missense_variant probably damaging SNU368 Missense Mutation OPN3 chr1 241767861 241767861 G C g.241767861G>C ENST00000366554.2 c.394C>G p.Leu132Val missense_variant probably damaging SNU368 Missense Mutation PGBD2 chr1 249211276 249211276 G A g.249211276G>A ENST00000329291.5 c.493G>A p.Ala165Thr missense_variant probably damaging SNU368 Missense Mutation KPNA6 chr1 32623929 32623929 G T g.32623929G>T ENST00000373625.3 c.393G>T p.Glu131Asp missense_variant benign SNU368 Missense Mutation BSDC1 chr1 32834055 32834055 G A g.32834055G>A ENST00000455895.2 c.1253C>T p.Ser418Phe missense_variant probably damaging SNU368 Missense Mutation CSMD2 chr1 34023460 34023460 G A g.34023460G>A ENST00000373381.4 c.8617C>T p.P2873S missense_variant benign SNU368 Missense Mutation KCNQ4 chr1 41304121 41304121 G A g.41304121G>A ENST00000347132.5 c.2014G>A p.Val672Met missense_variant probably damaging SNU368 Missense Mutation TMEM125 chr1 43738598 43738598 G T g.43738598G>T ENST00000432792.2 c.205G>T p.Ala69Ser missense_variant probably damaging SNU368 Missense Mutation HECTD3 chr1 45476351 45476351 A C g.45476351A>C ENST00000372172.4 c.397T>G p.Cys133Gly missense_variant benign SNU368 Missense Mutation TSPAN1 chr1 46650064 46650064 G A g.46650064G>A ENST00000372003.1 c.259G>A p.Val87Met missense_variant benign SNU368 Missense Mutation INSL5 chr1 67263907 67263907 T C g.67263907T>C ENST00000304526.2 c.197A>G p.Gln66Arg missense_variant possibly damaging SNU368 Missense Mutation PTGER3 chr1 71478109 71478109 G A g.71478109G>A ENST00000306666.5 c.956C>T p.Thr319Met missense_variant possibly damaging SNU368 Missense Mutation ELTD1 chr1 79403892 79403892 T A g.79403892T>A ENST00000370742.3 c.469A>T p.Thr157Ser missense_variant benign SNU368 Missense Mutation ABCA4 chr1 94495005 94495005 G C g.94495005G>C ENST00000370225.3 c.4535C>G p.Pro1512Arg missense_variant possibly damaging SNU368 Missense Mutation SH3PXD2A chr10 105362870 105362870 G C g.105362870G>C ENST00000355946.2 c.2021C>G p.Ser674Cys missense_variant probably damaging SNU368 Missense Mutation BMI1 chr10 22617613 22617613 C T g.22617613C>T ENST00000376663.3 c.556C>T p.Pro186Ser missense_variant possibly damaging SNU368 Missense Mutation CCDC7 chr10 33018335 33018335 G C g.33018335G>C NM_024688.2 c.776G>C p.Arg259Thr missense_variant,NMD_transcript_variant probably damaging SNU368 Missense Mutation ZNF32 chr10 44140187 44140187 C T g.44140187C>T ENST00000374433.2 c.133G>A p.Asp45Asn missense_variant possibly damaging SNU368 Missense Mutation MSMB chr10 51562383 51562383 A G g.51562383A>G ENST00000358559.2 c.328A>G p.Ser110Gly missense_variant benign SNU368 Missense Mutation BICC1 chr10 60588604 60588604 C G g.60588604C>G ENST00000373886.3 c.2878C>G p.Pro960Ala missense_variant possibly damaging SNU368 Missense Mutation ZNF503 chr10 77160924 77160924 C T g.77160924C>T ENST00000372524.4 c.254G>A p.Gly85Asp missense_variant probably damaging SNU368 Missense Mutation MARVELD1 chr10 99473695 99473695 G C g.99473695G>C ENST00000285605.6 c.62G>C p.Arg21Pro missense_variant NA SNU368 Missense Mutation PGR chr11 100998425 100998425 C G g.100998425C>G ENST00000263463.5 c.1377G>C p.Glu459Asp missense_variant possibly damaging SNU368 Missense Mutation MMP27 chr11 102573513 102573513 T G g.102573513T>G ENST00000260229.4 c.590A>C p.Glu197Ala missense_variant probably damaging SNU368 Missense Mutation DYNC2H1 chr11 103041640 103041640 G A g.103041640G>A ENST00000375735.2 c.5177G>A p.Arg1726Gln missense_variant probably damaging SNU368 Missense Mutation TEAD1 chr11 12904623 12904623 G A g.12904623G>A ENST00000526600.1 c.362G>A p.R121H missense_variant probably damaging SNU368 Missense Mutation NAT8B chr2 73927796 73927796 C T g.73927796C>T NM_016347.2 c.637G>A p.Val213Ile missense_variant benign SNU368 Missense Mutation SYT13 chr11 45307634 45307634 C T g.45307634C>T ENST00000020926.3 c.125G>A p.Arg42Gln missense_variant benign SNU368 Missense Mutation NUP160 chr11 47861587 47861587 T C g.47861587T>C ENST00000378460.2 c.556A>G p.Ile186Val missense_variant benign SNU368 Missense Mutation OR4B1 chr11 48238944 48238944 G T g.48238944G>T ENST00000309562.2 c.583G>T p.Val195Phe missense_variant benign SNU368 Missense Mutation OR51F2 chr11 4843516 4843516 C T g.4843516C>T ENST00000322110.5 c.901C>T p.Leu301Phe missense_variant probably damaging SNU368 Missense Mutation OR5L1 chr11 55579832 55579832 T C g.55579832T>C ENST00000333973.2 c.890T>C p.Val297Ala missense_variant probably damaging SNU368 Missense Mutation OR5D18 chr11 55587812 55587812 G A g.55587812G>A ENST00000333976.4 c.707G>A p.Arg236His missense_variant benign SNU368 Missense Mutation OR8J1 chr11 56128061 56128061 C G g.56128061C>G ENST00000303039.3 c.339C>G p.Ile113Met missense_variant benign SNU368 Missense Mutation RASSF7 chr11 562168 562168 A G g.562168A>G ENST00000344375.4 c.214A>G p.Thr72Ala missense_variant probably damaging SNU368 Missense Mutation OR5M8 chr11 56258485 56258485 C T g.56258485C>T ENST00000327216.2 c.362G>A p.Arg121Gln missense_variant probably damaging SNU368 Missense Mutation OR52N5 chr11 5799470 5799470 T C g.5799470T>C ENST00000317093.2 c.395A>G p.Tyr132Cys missense_variant benign SNU368 Missense Mutation OR5B3 chr11 58170594 58170594 C T g.58170594C>T ENST00000309403.2 c.289G>A p.Ala97Thr missense_variant benign SNU368 Missense Mutation SYT7 chr11 61323670 61323670 G A g.61323670G>A ENST00000263846.4 c.41C>T p.Ser14Leu missense_variant benign SNU368 Missense Mutation OR56B3P chr11 6150431 6150431 T A g.6150431T>A ENST00000316517.2 c.592T>A p.Y198N missense_variant NA SNU368 Missense Mutation AHNAK chr11 62293772 62293772 T C g.62293772T>C ENST00000378024.4 c.8117A>G p.Lys2706Arg missense_variant probably damaging SNU368 Missense Mutation AHNAK chr11 62301254 62301254 G A g.62301254G>A ENST00000378024.4 c.635C>T p.Ser212Leu missense_variant probably damaging SNU368 Missense Mutation TAF6L chr11 62554226 62554226 G A g.62554226G>A ENST00000294168.3 c.1327G>A p.Glu443Lys missense_variant probably damaging SNU368 Missense Mutation DNHD1 chr11 6585143 6585143 C G g.6585143C>G ENST00000254579.6 c.10073C>G p.Thr3358Ser missense_variant benign SNU368 Missense Mutation DNHD1 chr11 6588944 6588944 G A g.6588944G>A ENST00000254579.6 c.12205G>A p.Asp4069Asn missense_variant benign SNU368 Missense Mutation SHANK2 chr11 70666659 70666659 C T g.70666659C>T ENST00000338508.4 c.1306G>A p.Val436Ile missense_variant benign SNU368 Missense Mutation SYT9 chr11 7441762 7441762 G A g.7441762G>A ENST00000318881.6 c.1363G>A p.Val455Met missense_variant possibly damaging SNU368 Missense Mutation CCDC89 chr11 85396188 85396188 T A g.85396188T>A ENST00000316398.3 c.986A>T p.Glu329Val missense_variant probably damaging SNU368 Missense Mutation MED17 chr11 93529692 93529692 C G g.93529692C>G ENST00000251871.3 c.1129C>G p.Leu377Val missense_variant benign SNU368 Missense Mutation MYBPC1 chr12 101988865 101988865 A T g.101988865A>T ENST00000360610.2 c.17A>T p.Lys6Met missense_variant probably damaging SNU368 Missense Mutation TCHP chr12 110341902 110341902 C T g.110341902C>T ENST00000312777.5 c.349C>T p.Arg117Trp missense_variant probably damaging SNU368 Missense Mutation HECTD4 chr12 112610607 112610607 T C g.112610607T>C NM_001109662.3 c.11251A>G p.Met3751Val missense_variant benign SNU368 Missense Mutation KSR2 chr12 118293311 118293311 C T g.118293311C>T ENST00000425217.1 c.307G>A p.Glu103Lys missense_variant benign SNU368 Missense Mutation WNT5B chr12 1748853 1748853 G A g.1748853G>A ENST00000310594.3 c.332G>A p.Ser111Asn missense_variant possibly damaging SNU368 Missense Mutation ABCC9 chr12 22068827 22068827 C T g.22068827C>T ENST00000261200.4 c.591G>A p.Met197Ile missense_variant benign SNU368 Missense Mutation CACNA1C chr12 2676738 2676738 C T g.2676738C>T ENST00000327702.7 c.1673C>T p.Thr558Met missense_variant probably damaging SNU368 Missense Mutation CACNA1C chr12 2783660 2783660 C G g.2783660C>G ENST00000344100.3 c.4803C>G p.Ser1601Arg missense_variant unknown SNU368 Missense Mutation PRICKLE1 chr12 42853913 42853913 C T g.42853913C>T ENST00000345127.3 c.2194G>A p.Gly732Arg missense_variant benign SNU368 Missense Mutation GALNT6 chr12 51773409 51773409 C T g.51773409C>T ENST00000356317.3 c.157G>A p.Val53Ile missense_variant possibly damaging SNU368 Missense Mutation KRT80 chr12 52566851 52566851 G A g.52566851G>A ENST00000313234.5 c.928C>T p.Arg310Trp missense_variant probably damaging SNU368 Missense Mutation NCKAP1L chr12 54894320 54894320 C T g.54894320C>T ENST00000293373.6 c.217C>T p.His73Tyr missense_variant possibly damaging SNU368 Missense Mutation CDK2 chr12 56364973 56364973 G A g.56364973G>A ENST00000266970.4 c.734G>A p.Arg245Gln missense_variant benign SNU368 Missense Mutation TIMELESS chr12 56822710 56822710 T C g.56822710T>C ENST00000553532.1 c.1261A>G p.Met421Val missense_variant probably damaging SNU368 Missense Mutation CD4 chr12 6923331 6923331 G A g.6923331G>A ENST00000011653.4 c.238G>A p.Ala80Thr missense_variant benign SNU368 Missense Mutation C1RL chr12 7249543 7249543 A G g.7249543A>G ENST00000266542.4 c.908T>C p.Leu303Ser missense_variant probably damaging SNU368 Missense Mutation KCNC2 chr12 75601154 75601154 T C g.75601154T>C ENST00000298972.1 c.610A>G p.Lys204Glu missense_variant benign SNU368 Missense Mutation LOC100505841 chr5 121518287 121518287 G A g.121518287G>A NM_001195535.1 c.316G>A p.D106N missense_variant NA SNU368 Missense Mutation FLT3 chr13 28626790 28626790 C T g.28626790C>T ENST00000241453.7 c.506G>A p.Arg169Lys missense_variant possibly damaging SNU368 Missense Mutation NEK3 chr13 52726781 52726781 T C g.52726781T>C ENST00000258597.5 c.356A>G p.His119Arg missense_variant,NMD_transcript_variant probably damaging SNU368 Missense Mutation SLC15A1 chr13 99378495 99378495 T C g.99378495T>C ENST00000376503.5 c.127A>G p.Asn43Asp missense_variant benign SNU368 Missense Mutation JPH4 chr14 24045273 24045273 G A g.24045273G>A ENST00000356300.4 c.772C>T p.Pro258Ser missense_variant benign SNU368 Missense Mutation DHRS2 chr14 24108536 24108536 G A g.24108536G>A ENST00000250383.6 c.289G>A p.Ala97Thr missense_variant benign SNU368 Missense Mutation NFATC4 chr14 24845961 24845961 T C g.24845961T>C ENST00000250373.4 c.2518T>C p.Tyr840His missense_variant probably damaging SNU368 Missense Mutation C14orf105 chr14 57942371 57942371 G A g.57942371G>A ENST00000422976.2 c.704C>T p.Ala235Val missense_variant benign SNU368 Missense Mutation SYT16 chr14 62462835 62462835 A G g.62462835A>G ENST00000430451.2 c.98A>G p.Asp33Gly missense_variant benign SNU368 Missense Mutation C14orf166B chr14 77332406 77332406 A C g.77332406A>C ENST00000393774.3 c.1347A>C p.Lys449Asn missense_variant probably damaging SNU368 Missense Mutation CIPC chr14 77580363 77580363 G A g.77580363G>A ENST00000361786.2 c.902G>A p.Arg301His missense_variant benign SNU368 Missense Mutation OR4F15 chr15 102359113 102359113 G T g.102359113G>T ENST00000332238.4 c.724G>T p.Ala242Ser missense_variant probably damaging SNU368 Missense Mutation ATP10A chr15 25959129 25959129 G A g.25959129G>A ENST00000356865.6 c.2036C>T p.Ser679Leu missense_variant benign SNU368 Missense Mutation FAM189A1 chr15 29428656 29428656 G T g.29428656G>T ENST00000261275.4 c.840C>A p.Asp280Glu missense_variant benign SNU368 Missense Mutation EIF2AK4 chr15 40278020 40278020 T A g.40278020T>A ENST00000263791.5 c.2334T>A p.Asn778Lys missense_variant benign SNU368 Missense Mutation FAM63B chr15 59064295 59064295 A G g.59064295A>G ENST00000316848.5 c.701A>G p.Lys234Arg missense_variant,NMD_transcript_variant benign SNU368 Missense Mutation DENND4A chr15 65983357 65983357 C T g.65983357C>T ENST00000431932.2 c.3443G>A p.Arg1148His missense_variant possibly damaging SNU368 Missense Mutation BBS4 chr15 73009162 73009162 G A g.73009162G>A ENST00000268057.4 c.376G>A p.Glu126Lys missense_variant possibly damaging SNU368 Missense Mutation TBC1D2B chr15 78305378 78305378 T C g.78305378T>C ENST00000300584.3 c.2057A>G p.Asn686Ser missense_variant benign SNU368 Missense Mutation TICRR chr15 90167314 90167314 T C g.90167314T>C ENST00000268138.7 c.3773T>C p.Met1258Thr missense_variant benign SNU368 Missense Mutation DNAH3 chr16 21145692 21145692 G A g.21145692G>A ENST00000261383.3 c.970C>T p.Arg324Trp missense_variant probably damaging SNU368 Missense Mutation TSC2 chr16 2135300 2135300 G A g.2135300G>A ENST00000219476.3 c.4639G>A p.Val1547Ile missense_variant probably damaging SNU368 Missense Mutation VWA3A chr16 22166901 22166901 C T g.22166901C>T ENST00000389398.5 c.3419C>T p.Pro1140Leu missense_variant probably damaging SNU368 Missense Mutation RBBP6 chr16 24582866 24582866 A T g.24582866A>T ENST00000319715.4 c.4479A>T p.Glu1493Asp missense_variant benign SNU368 Missense Mutation KDM8 chr16 27221805 27221805 C T g.27221805C>T ENST00000286096.4 c.361C>T p.Arg121Trp missense_variant probably damaging SNU368 Missense Mutation FBRS chr16 30678753 30678753 C G g.30678753C>G ENST00000287468.5 c.428C>G p.Ala143Gly missense_variant benign SNU368 Missense Mutation ITGAM chr16 31288320 31288320 C T g.31288320C>T ENST00000287497.8 c.1163C>T p.Thr388Ile missense_variant benign SNU368 Missense Mutation ZSCAN10 chr16 3139483 3139483 C T g.3139483C>T ENST00000252463.2 c.1787G>A p.Arg596His missense_variant probably damaging SNU368 Missense Mutation ZNF174 chr16 3458338 3458338 A C g.3458338A>C ENST00000268655.4 c.643A>C p.Ser215Arg missense_variant possibly damaging SNU368 Missense Mutation ABCC11 chr16 48244881 48244881 T C g.48244881T>C ENST00000353782.5 c.1586A>G p.Lys529Arg missense_variant benign SNU368 Missense Mutation CDH5 chr16 66436777 66436777 A G g.66436777A>G ENST00000341529.3 c.2060A>G p.Gln687Arg missense_variant possibly damaging SNU368 Missense Mutation ADAT1 chr16 75646683 75646683 G C g.75646683G>C ENST00000307921.3 c.501C>G p.His167Gln missense_variant benign SNU368 Missense Mutation CHTF18 chr16 845725 845725 C T g.845725C>T ENST00000262315.9 c.2216C>T p.Thr739Met missense_variant probably damaging SNU368 Missense Mutation ABAT chr16 8866736 8866736 G A g.8866736G>A ENST00000268251.8 c.916G>A p.Asp306Asn missense_variant benign SNU368 Missense Mutation ZNF287 chr17 16455470 16455470 A T g.16455470A>T ENST00000395824.1 c.1986T>A p.Asn662Lys missense_variant possibly damaging SNU368 Missense Mutation SREBF1 chr17 17722536 17722536 C T g.17722536C>T ENST00000261646.5 c.859G>A p.Gly287Ser missense_variant probably damaging SNU368 Missense Mutation UTP6 chr17 30190386 30190386 G A g.30190386G>A ENST00000261708.4 c.1786C>T p.His596Tyr missense_variant possibly damaging SNU368 Missense Mutation AOC2 chr17 41001718 41001718 T G g.41001718T>G ENST00000253799.3 c.1975T>G p.Phe659Val missense_variant probably damaging SNU368 Missense Mutation SLC16A6 chr17 66267673 66267673 A G g.66267673A>G ENST00000327268.4 c.628T>C p.Ser210Pro missense_variant possibly damaging SNU368 Missense Mutation SLC16A13 chr17 6941663 6941663 C G g.6941663C>G ENST00000308027.6 c.536C>G p.Ser179Cys missense_variant probably damaging SNU368 Missense Mutation TP53 chr17 7579369 7579369 G C g.7579369G>C ENST00000269305.4 c.318C>G p.Ser106Arg missense_variant benign SNU368 Missense Mutation PGS1 chr17 76394418 76394418 C T g.76394418C>T ENST00000262764.6 c.497C>T p.Thr166Met missense_variant probably damaging SNU368 Missense Mutation TBC1D16 chr17 77984397 77984397 C T g.77984397C>T ENST00000310924.2 c.341G>A p.Arg114Gln missense_variant possibly damaging SNU368 Missense Mutation ALOX15B chr17 7951863 7951863 G C g.7951863G>C ENST00000380183.4 c.2011G>C p.Glu671Gln missense_variant probably damaging SNU368 Missense Mutation FASN chr17 80041869 80041869 G A g.80041869G>A ENST00000306749.2 c.5080C>T p.Arg1694Cys missense_variant benign SNU368 Missense Mutation TUBB6 chr18 12325685 12325685 G A g.12325685G>A ENST00000317702.5 c.897G>A p.Met299Ile missense_variant benign SNU368 Missense Mutation CEP192 chr18 13073128 13073128 G A g.13073128G>A ENST00000506447.1 c.5560G>A p.Ala1854Thr missense_variant probably damaging SNU368 Missense Mutation ZNF521 chr18 22806677 22806677 T A g.22806677T>A ENST00000361524.3 c.1205A>T p.Lys402Ile missense_variant possibly damaging SNU368 Missense Mutation CDH2 chr18 25583047 25583047 C A g.25583047C>A ENST00000269141.3 c.934G>T p.Ala312Ser missense_variant benign SNU368 Missense Mutation ASXL3 chr18 31326032 31326032 G A g.31326032G>A ENST00000269197.5 c.6220G>A p.Gly2074Ser missense_variant benign SNU368 Missense Mutation LAMA1 chr18 7038877 7038877 C G g.7038877C>G ENST00000389658.3 c.1495G>C p.Gly499Arg missense_variant probably damaging SNU368 Missense Mutation ZGLP1 chr19 10419060 10419060 T C g.10419060T>C ENST00000403903.3 c.298A>G p.Lys100Glu missense_variant benign SNU368 Missense Mutation ZNF799 chr19 12502891 12502891 C A g.12502891C>A ENST00000430385.3 c.321G>T p.Met107Ile missense_variant benign SNU368 Missense Mutation DNASE2 chr19 12986992 12986992 A G g.12986992A>G ENST00000222219.3 c.895T>C p.Cys299Arg missense_variant probably damaging SNU368 Missense Mutation OR10H5 chr19 15905035 15905035 G A g.15905035G>A ENST00000308940.8 c.177G>A p.Met59Ile missense_variant possibly damaging SNU368 Missense Mutation USE1 chr19 17330557 17330557 A G g.17330557A>G ENST00000263897.5 c.715A>G p.Ile239Val missense_variant possibly damaging SNU368 Missense Mutation SLC27A1 chr19 17615285 17615285 C T g.17615285C>T ENST00000252595.7 c.1805C>T p.Thr602Met missense_variant probably damaging SNU368 Missense Mutation ZNF724P chr19 23406328 23406328 T C g.23406328T>C ENST00000418100.1 c.719A>G p.H240R missense_variant benign SNU368 Missense Mutation MAG chr19 35791242 35791242 T A g.35791242T>A ENST00000361922.4 c.905T>A p.Val302Asp missense_variant possibly damaging SNU368 Missense Mutation ZNF382 chr19 37117359 37117359 A G g.37117359A>G ENST00000292928.2 c.560A>G p.Lys187Arg missense_variant benign SNU368 Missense Mutation FBL chr19 40329740 40329740 T C g.40329740T>C ENST00000221801.3 c.484A>G p.Lys162Glu missense_variant possibly damaging SNU368 Missense Mutation PRX chr19 40903576 40903576 C T g.40903576C>T ENST00000324001.7 c.683G>A p.Arg228His missense_variant benign SNU368 Missense Mutation ZNF541 chr19 48052614 48052614 C T g.48052614C>T ENST00000314121.4 c.436G>A p.G146R missense_variant probably damaging SNU368 Missense Mutation PLIN3 chr19 4852145 4852145 C T g.4852145C>T ENST00000221957.4 c.517G>A p.Val173Ile missense_variant probably damaging SNU368 Missense Mutation MYH14 chr19 50792843 50792843 G A g.50792843G>A ENST00000596571.1 c.4780G>A p.Glu1594Lys missense_variant probably damaging SNU368 Missense Mutation ASPDH chr19 51015428 51015428 G C g.51015428G>C ENST00000389208.4 c.773C>G p.Ser258Cys missense_variant probably damaging SNU368 Missense Mutation KLK9 chr19 51512506 51512506 G A g.51512506G>A ENST00000250366.6 c.133C>T p.Arg45Trp missense_variant,NMD_transcript_variant probably damaging SNU368 Missense Mutation PTPRS chr19 5229615 5229615 G A g.5229615G>A ENST00000357368.4 c.2236C>T p.Pro746Ser missense_variant possibly damaging SNU368 Missense Mutation NLRP12 chr19 54301639 54301639 C T g.54301639C>T ENST00000324134.6 c.2785G>A p.Ala929Thr missense_variant benign SNU368 Missense Mutation LILRA1 chr19 55107866 55107866 C T g.55107866C>T ENST00000251372.3 c.1171C>T p.His391Tyr missense_variant probably damaging SNU368 Missense Mutation KIR2DL1 chr19 55286871 55286871 T A g.55286871T>A ENST00000291633.7 c.625T>A p.Trp209Arg missense_variant damaging SNU368 Missense Mutation NLRP4 chr19 56370309 56370309 C G g.56370309C>G ENST00000301295.6 c.1550C>G p.Ala517Gly missense_variant probably damaging SNU368 Missense Mutation MUC16 chr19 9067350 9067350 G A g.9067350G>A ENST00000397910.4 c.20096C>T p.Thr6699Ile missense_variant benign SNU368 Missense Mutation MUC16 chr19 9068934 9068934 G C g.9068934G>C ENST00000397910.4 c.18512C>G p.Thr6171Ser missense_variant probably damaging SNU368 Missense Mutation IL1RL1 chr2 102968179 102968179 T C g.102968179T>C ENST00000233954.1 c.1469T>C p.Met490Thr missense_variant benign SNU368 Missense Mutation ZEB2 chr2 145161588 145161588 G T g.145161588G>T ENST00000303660.4 c.702C>A p.His234Gln missense_variant probably damaging SNU368 Missense Mutation NEB chr2 152573980 152573980 C A g.152573980C>A ENST00000172853.10 c.772G>T p.Asp258Tyr missense_variant probably damaging SNU368 Missense Mutation CYTIP chr2 158272436 158272436 G A g.158272436G>A ENST00000264192.3 c.833C>T p.Thr278Met missense_variant probably damaging SNU368 Missense Mutation SCN9A chr2 167136872 167136872 T G g.167136872T>G ENST00000409672.1 c.2305A>C p.Asn769His missense_variant probably damaging SNU368 Missense Mutation G6PC2 chr2 169758052 169758052 T G g.169758052T>G ENST00000282075.4 c.211T>G p.Phe71Val missense_variant,NMD_transcript_variant benign SNU368 Missense Mutation LRP2 chr2 170103418 170103418 C T g.170103418C>T ENST00000263816.3 c.2987G>A p.Arg996Gln missense_variant probably damaging SNU368 Missense Mutation DFNB59 chr2 179323275 179323275 C G g.179323275C>G ENST00000375129.4 c.588C>G p.Asp196Glu missense_variant benign SNU368 Missense Mutation SSFA2 chr2 182785377 182785377 T G g.182785377T>G ENST00000320370.7 c.3198T>G p.Asn1066Lys missense_variant probably damaging SNU368 Missense Mutation COL5A2 chr2 189916078 189916078 C T g.189916078C>T ENST00000374866.3 c.2899G>A p.Asp967Asn missense_variant probably damaging SNU368 Missense Mutation AOX1 chr2 201450857 201450857 T G g.201450857T>G ENST00000374700.2 c.26T>G p.Phe9Cys missense_variant probably damaging SNU368 Missense Mutation NBEAL1 chr2 204066416 204066416 C G g.204066416C>G ENST00000449802.1 c.7302C>G p.Ile2434Met missense_variant possibly damaging SNU368 Missense Mutation STK11IP chr2 220478958 220478958 G A g.220478958G>A ENST00000295641.10 c.2825G>A p.Arg942Gln missense_variant probably damaging SNU368 Missense Mutation AGAP1 chr2 236949452 236949452 G A g.236949452G>A ENST00000304032.8 c.1858G>A p.Gly620Arg missense_variant probably damaging SNU368 Missense Mutation EPT1 chr2 26609306 26609306 G C g.26609306G>C ENST00000260585.7 c.997G>C p.Val333Leu missense_variant benign SNU368 Missense Mutation EIF2B4 chr2 27591548 27591548 C G g.27591548C>G ENST00000347454.4 c.471G>C p.Arg157Ser missense_variant benign SNU368 Missense Mutation PLB1 chr2 28796070 28796070 T C g.28796070T>C ENST00000327757.5 c.1331T>C p.Leu444Pro missense_variant probably damaging SNU368 Missense Mutation ALK chr2 29448360 29448360 C T g.29448360C>T ENST00000389048.3 c.3139G>A p.Ala1047Thr missense_variant benign SNU368 Missense Mutation CAPN13 chr2 30977174 30977174 C T g.30977174C>T ENST00000295055.8 c.923G>A p.Arg308Gln missense_variant benign SNU368 Missense Mutation PLEKHH2 chr2 43927169 43927169 G A g.43927169G>A ENST00000282406.4 c.1072G>A p.Ala358Thr missense_variant possibly damaging SNU368 Missense Mutation GPR75 chr2 54081233 54081233 A C g.54081233A>C ENST00000394705.2 c.661T>G p.Ser221Ala missense_variant probably damaging SNU368 Missense Mutation SOX11 chr2 5833070 5833070 G T g.5833070G>T ENST00000322002.3 c.217G>T p.Asp73Tyr missense_variant probably damaging SNU368 Missense Mutation RTKN chr2 74653392 74653392 G A g.74653392G>A ENST00000233330.6 c.1520C>T p.Thr507Ile missense_variant possibly damaging SNU368 Missense Mutation TTC31 chr2 74718696 74718696 T G g.74718696T>G ENST00000233623.5 c.773T>G p.Leu258Arg missense_variant possibly damaging SNU368 Missense Mutation MST1L chr1 17084086 17084086 A G g.17084086A>G NM_001271733.1 c.1835T>C p.Ile612Thr missense_variant benign SNU368 Missense Mutation SNRNP200 chr2 96949279 96949279 C A g.96949279C>A ENST00000323853.5 c.4757G>T p.Arg1586Leu missense_variant benign SNU368 Missense Mutation OR2W5 chr1 247655324 247655324 G A g.247655324G>A NM_001004698.2 c.895G>A p.Gly299Arg missense_variant benign SNU368 Missense Mutation CST11 chr20 23433250 23433250 T C g.23433250T>C ENST00000377007.3 c.199A>G p.Ile67Val missense_variant possibly damaging SNU368 Missense Mutation NINL chr20 25498431 25498431 C G g.25498431C>G ENST00000278886.6 c.235G>C p.Gly79Arg missense_variant probably damaging SNU368 Missense Mutation MYH7B chr20 33584465 33584465 G A g.33584465G>A ENST00000262873.7 c.3296G>A p.Arg1099Gln missense_variant possibly damaging SNU368 Missense Mutation SIGLEC1 chr20 3677370 3677370 C T g.3677370C>T ENST00000202578.4 c.2546G>A p.Arg849Gln missense_variant possibly damaging SNU368 Missense Mutation FAM83D chr20 37570737 37570737 A T g.37570737A>T ENST00000217429.4 c.709A>T p.Met237Leu missense_variant benign SNU368 Missense Mutation TBC1D20 chr20 419381 419381 C T g.419381C>T ENST00000354200.4 c.1061G>A p.Arg354Gln missense_variant benign SNU368 Missense Mutation CYP24A1 chr20 52790024 52790024 G A g.52790024G>A ENST00000216862.3 c.95C>T p.Ala32Val missense_variant benign SNU368 Missense Mutation SYCP2 chr20 58491615 58491615 C T g.58491615C>T ENST00000357552.3 c.439G>A p.Val147Ile missense_variant benign SNU368 Missense Mutation RBBP8NL chr20 60989055 60989055 C T g.60989055C>T ENST00000252998.1 c.1352G>A p.Arg451Gln missense_variant probably damaging SNU368 Missense Mutation DIDO1 chr20 61511262 61511262 G C g.61511262G>C ENST00000266070.4 c.6046C>G p.Pro2016Ala missense_variant benign SNU368 Missense Mutation KRTAP26-1 chr21 31692001 31692001 A C g.31692001A>C ENST00000360542.3 c.353T>G p.Val118Gly missense_variant possibly damaging SNU368 Missense Mutation TMPRSS3 chr21 43800301 43800301 G T g.43800301G>T ENST00000291532.3 c.973C>A p.Leu325Met missense_variant probably damaging SNU368 Missense Mutation ZNF70 chr22 24086624 24086624 C T g.24086624C>T ENST00000341976.3 c.704G>A p.Arg235Gln missense_variant benign SNU368 Missense Mutation TBC1D10A chr22 30695470 30695470 C A g.30695470C>A ENST00000215790.7 c.380G>T p.Gly127Val missense_variant probably damaging SNU368 Missense Mutation SEC14L2 chr22 30811847 30811847 A C g.30811847A>C ENST00000312932.9 c.764A>C p.Lys255Thr missense_variant benign SNU368 Missense Mutation TCF20 chr22 42607459 42607459 G A g.42607459G>A ENST00000335626.4 c.3853C>T p.Leu1285Phe missense_variant possibly damaging SNU368 Missense Mutation TATDN2 chr3 10312455 10312455 T A g.10312455T>A ENST00000287652.4 c.1589T>A p.Phe530Tyr missense_variant possibly damaging SNU368 Missense Mutation KIAA2018 chr3 113379097 113379097 T C g.113379097T>C ENST00000316407.4 c.1432A>G p.Ile478Val missense_variant benign SNU368 Missense Mutation MYLK chr3 123427662 123427662 C T g.123427662C>T ENST00000359169.1 c.2023G>A p.Gly675Arg missense_variant probably damaging SNU368 Missense Mutation NUP210 chr3 13383282 13383282 C A g.13383282C>A ENST00000254508.5 c.3194G>T p.Gly1065Val missense_variant probably damaging SNU368 Missense Mutation MYRIP chr3 40231803 40231803 G A g.40231803G>A ENST00000302541.6 c.1514G>A p.Arg505Lys missense_variant benign SNU368 Missense Mutation PTPN23 chr3 47452070 47452070 G A g.47452070G>A ENST00000265562.4 c.2782G>A p.Ala928Thr missense_variant benign SNU368 Missense Mutation FAM212A chr3 49842212 49842212 G A g.49842212G>A ENST00000333323.4 c.656G>A p.Arg219His missense_variant benign SNU368 Missense Mutation MST1R chr3 49934990 49934990 A C g.49934990A>C ENST00000296474.3 c.2009T>G p.Val670Gly missense_variant probably damaging SNU368 Missense Mutation DNAH1 chr3 52387230 52387230 G A g.52387230G>A ENST00000420323.2 c.3139G>A p.Ala1047Thr missense_variant benign SNU368 Missense Mutation LMCD1 chr3 8609277 8609277 G A g.8609277G>A ENST00000157600.3 c.1091G>A p.Arg364His missense_variant benign SNU368 Missense Mutation BANK1 chr4 102791695 102791695 A C g.102791695A>C ENST00000322953.4 c.797A>C p.Tyr266Ser missense_variant benign SNU368 Missense Mutation ZNF518B chr4 10447628 10447628 G A g.10447628G>A ENST00000326756.3 c.325C>T p.His109Tyr missense_variant benign SNU368 Missense Mutation PRSS12 chr4 119273472 119273472 T A g.119273472T>A ENST00000296498.3 c.404A>T p.His135Leu missense_variant probably damaging SNU368 Missense Mutation EXOSC9 chr4 122725855 122725855 G A g.122725855G>A ENST00000243498.5 c.463G>A p.Val155Met missense_variant probably damaging SNU368 Missense Mutation MAEA chr4 1316229 1316229 C T g.1316229C>T ENST00000303400.4 c.517C>T p.Arg173Cys missense_variant benign SNU368 Missense Mutation BOD1L1 chr4 13602496 13602496 C G g.13602496C>G ENST00000040738.5 c.6028G>C p.Val2010Leu missense_variant benign SNU368 Missense Mutation C4orf51 chr4 146617753 146617753 G C g.146617753G>C ENST00000438731.1 c.276G>C p.Trp92Cys missense_variant benign SNU368 Missense Mutation CC2D2A chr4 15560840 15560840 T C g.15560840T>C ENST00000413206.1 c.2882T>C p.Ile961Thr missense_variant benign SNU368 Missense Mutation WHSC1 chr4 1920021 1920021 A C g.1920021A>C ENST00000312087.6 c.1081A>C p.Lys361Gln missense_variant,NMD_transcript_variant benign SNU368 Missense Mutation TBC1D19 chr4 26661244 26661244 A T g.26661244A>T ENST00000264866.4 c.506A>T p.Asn169Ile missense_variant probably damaging SNU368 Missense Mutation NOP14 chr4 2951840 2951840 T C g.2951840T>C ENST00000314262.6 c.1103A>G p.Glu368Gly missense_variant benign SNU368 Missense Mutation TLR1 chr4 38798792 38798792 T C g.38798792T>C ENST00000308979.2 c.1661A>G p.Tyr554Cys missense_variant probably damaging SNU368 Missense Mutation RBM47 chr4 40428106 40428106 T C g.40428106T>C ENST00000295971.7 c.1597A>G p.Thr533Ala missense_variant benign SNU368 Missense Mutation DCAF4L1 chr4 41984349 41984349 C G g.41984349C>G ENST00000333141.5 c.540C>G p.Phe180Leu missense_variant possibly damaging SNU368 Missense Mutation ATP8A1 chr4 42588481 42588481 T C g.42588481T>C ENST00000264449.10 c.607A>G p.Thr203Ala missense_variant probably damaging SNU368 Missense Mutation ZNF721 chr4 466388 466388 T C g.466388T>C ENST00000511833.2 c.10A>G p.Asn4Asp missense_variant possibly damaging SNU368 Missense Mutation SORCS2 chr4 7677888 7677888 G A g.7677888G>A ENST00000507866.2 c.1273G>A p.Ala425Thr missense_variant possibly damaging SNU368 Missense Mutation BMP3 chr4 81967092 81967092 A G g.81967092A>G ENST00000282701.2 c.517A>G p.Ser173Gly missense_variant benign SNU368 Missense Mutation PAM chr5 102345487 102345487 T G g.102345487T>G ENST00000304400.7 c.2248T>G p.Phe750Val missense_variant benign SNU368 Missense Mutation REEP5 chr5 112238201 112238201 T A g.112238201T>A ENST00000379638.4 c.227A>T p.Glu76Val missense_variant possibly damaging SNU368 Missense Mutation MEGF10 chr5 126754822 126754822 G A g.126754822G>A ENST00000274473.6 c.1316G>A p.Cys439Tyr missense_variant probably damaging SNU368 Missense Mutation RAPGEF6 chr5 130815324 130815324 T C g.130815324T>C ENST00000296859.6 c.1963A>G p.Thr655Ala missense_variant benign SNU368 Missense Mutation SLC22A5 chr5 131719913 131719913 A G g.131719913A>G ENST00000245407.3 c.572A>G p.Lys191Arg missense_variant benign SNU368 Missense Mutation SLC22A5 chr5 131726558 131726558 G A g.131726558G>A ENST00000245407.3 c.1229G>A p.Gly410Asp missense_variant probably damaging SNU368 Missense Mutation REEP2 chr5 137781016 137781016 C T g.137781016C>T ENST00000254901.5 c.511C>T p.Arg171Cys missense_variant possibly damaging SNU368 Missense Mutation GRIA1 chr5 153175043 153175043 G A g.153175043G>A ENST00000340592.5 c.2278G>A p.Val760Ile missense_variant damaging SNU368 Missense Mutation ADAMTS2 chr5 178562980 178562980 C A g.178562980C>A ENST00000251582.7 c.2015G>T p.Arg672Leu missense_variant probably damaging SNU368 Missense Mutation FLT4 chr5 180048848 180048848 G C g.180048848G>C ENST00000261937.6 c.1714C>G p.Gln572Glu missense_variant benign SNU368 Missense Mutation NIM1K chr5 43280781 43280781 C T g.43280781C>T ENST00000326035.2 c.1261C>T p.R421C missense_variant probably damaging SNU368 Missense Mutation PPWD1 chr5 64883155 64883155 G T g.64883155G>T ENST00000261308.5 c.1873G>T p.Val625Phe missense_variant possibly damaging SNU368 Missense Mutation BHMT chr5 78422010 78422010 G A g.78422010G>A ENST00000274353.5 c.767G>A p.Cys256Tyr missense_variant probably damaging SNU368 Missense Mutation GRIK2 chr6 102516378 102516378 A G g.102516378A>G ENST00000421544.1 c.2719A>G p.Met907Val missense_variant benign SNU368 Missense Mutation AIM1 chr6 106960487 106960487 G C g.106960487G>C ENST00000369066.3 c.271G>C p.Glu91Gln missense_variant probably damaging SNU368 Missense Mutation HECA chr6 139488045 139488045 A G g.139488045A>G ENST00000367658.2 c.896A>G p.Lys299Arg missense_variant probably damaging SNU368 Missense Mutation HIVEP2 chr6 143094132 143094132 C A g.143094132C>A ENST00000012134.2 c.1744G>T p.Val582Leu missense_variant possibly damaging SNU368 Missense Mutation ADGB chr6 147022145 147022145 C G g.147022145C>G ENST00000397944.3 c.1646C>G p.Thr549Ser missense_variant benign SNU368 Missense Mutation SYNE1 chr6 152806029 152806029 C T g.152806029C>T ENST00000265368.4 c.1126G>A p.Gly376Ser missense_variant possibly damaging SNU368 Missense Mutation DTNBP1 chr6 15523316 15523316 A G g.15523316A>G ENST00000344537.5 c.946T>C p.Ser316Pro missense_variant possibly damaging SNU368 Missense Mutation ARID1B chr6 157470009 157470009 A T g.157470009A>T ENST00000350026.5 c.2764A>T p.Met922Leu missense_variant possibly damaging SNU368 Missense Mutation SLC22A1 chr6 160560851 160560851 A C g.160560851A>C ENST00000324965.4 c.1228A>C p.Asn410His missense_variant probably damaging SNU368 Missense Mutation KIF25 chr6 168440839 168440839 A G g.168440839A>G ENST00000351261.3 c.589A>G p.Arg197Gly missense_variant probably damaging SNU368 Missense Mutation KIF13A chr6 17852221 17852221 C G g.17852221C>G ENST00000259711.6 c.547G>C p.Asp183His missense_variant probably damaging SNU368 Missense Mutation GMNN chr6 24785939 24785939 T C g.24785939T>C ENST00000230056.3 c.542T>C p.Val181Ala missense_variant benign SNU368 Missense Mutation HIST1H4C chr6 26104252 26104252 A G g.26104252A>G ENST00000377803.2 c.77A>G p.Asn26Ser missense_variant possibly damaging SNU368 Missense Mutation ZSCAN23 chr6 28403808 28403808 G C g.28403808G>C ENST00000289788.4 c.236C>G p.Pro79Arg missense_variant probably damaging SNU368 Missense Mutation OR2J1 chr6 29069169 29069169 G T g.29069169G>T ENST00000377171.3 c.450G>T p.W150C missense_variant NA SNU368 Missense Mutation MDC1 chr6 30672390 30672390 C G g.30672390C>G ENST00000376406.3 c.4570G>C p.Val1524Leu missense_variant possibly damaging SNU368 Missense Mutation DPCR1 chr6 30919266 30919266 G A g.30919266G>A ENST00000462446.1 c.3025G>A p.Ala1009Thr missense_variant probably damaging SNU368 Missense Mutation SPDEF chr6 34512000 34512000 G C g.34512000G>C ENST00000374037.3 c.233C>G p.Pro78Arg missense_variant possibly damaging SNU368 Missense Mutation CDKN1A chr6 36652145 36652145 G T g.36652145G>T ENST00000244741.5 c.267G>T p.Leu89Phe missense_variant possibly damaging SNU368 Missense Mutation CUL9 chr6 43171290 43171290 A G g.43171290A>G ENST00000252050.4 c.3985A>G p.Ile1329Val missense_variant benign SNU368 Missense Mutation TJAP1 chr6 43473429 43473429 A G g.43473429A>G ENST00000372445.5 c.1510A>G p.Arg504Gly missense_variant benign SNU368 Missense Mutation IL17F chr6 52101860 52101860 C T g.52101860C>T ENST00000336123.4 c.361G>A p.Val121Ile missense_variant possibly damaging SNU368 Missense Mutation DSP chr6 7584294 7584294 A T g.7584294A>T ENST00000379802.3 c.6799A>T p.Thr2267Ser missense_variant benign SNU368 Missense Mutation LCA5 chr6 80202321 80202321 C T g.80202321C>T ENST00000369846.4 c.902G>A p.Arg301His missense_variant probably damaging SNU368 Missense Mutation IBTK chr6 82933269 82933269 T C g.82933269T>C ENST00000306270.7 c.1012A>G p.Lys338Glu missense_variant benign SNU368 Missense Mutation MMS22L chr6 97677082 97677082 G A g.97677082G>A ENST00000275053.4 c.1727C>T p.Ala576Val missense_variant benign SNU368 Missense Mutation MUC12 chr7 100634212 100634212 C T g.100634212C>T ENST00000536621.1 c.368C>T p.Ala123Val missense_variant benign SNU368 Missense Mutation MUC12 chr7 100635167 100635167 C A g.100635167C>A ENST00000536621.1 c.1323C>A p.His441Gln missense_variant benign SNU368 Missense Mutation CCDC136 chr7 128447489 128447489 A G g.128447489A>G ENST00000297788.4 c.1495A>G p.Lys499Glu missense_variant probably damaging SNU368 Missense Mutation IRF5 chr7 128582314 128582314 A G g.128582314A>G ENST00000249375.4 c.179A>G p.Asp60Gly missense_variant probably damaging SNU368 Missense Mutation WDR91 chr7 134896233 134896233 T C g.134896233T>C ENST00000344400.5 c.22A>G p.Thr8Ala missense_variant possibly damaging SNU368 Missense Mutation GIMAP8 chr7 150174257 150174257 G A g.150174257G>A ENST00000307271.3 c.1387G>A p.Val463Ile missense_variant benign SNU368 Missense Mutation ABCB8 chr7 150730923 150730923 T A g.150730923T>A ENST00000358849.4 c.327T>A p.His109Gln missense_variant benign SNU368 Missense Mutation KMT2C chr7 151874835 151874835 C A g.151874835C>A ENST00000262189.6 c.7703G>T p.Gly2568Val missense_variant probably damaging SNU368 Missense Mutation PTPRN2 chr7 157931165 157931165 G A g.157931165G>A ENST00000389413.3 c.953C>T p.Pro318Leu missense_variant possibly damaging SNU368 Missense Mutation DNAH11 chr7 21639611 21639611 A C g.21639611A>C ENST00000328843.6 c.2874A>C p.Lys958Asn missense_variant possibly damaging SNU368 Missense Mutation DNAH11 chr7 21826284 21826284 G T g.21826284G>T ENST00000409508.3 c.9640G>T p.Ala3214Ser missense_variant probably damaging SNU368 Missense Mutation USP42 chr7 6194630 6194630 G A g.6194630G>A ENST00000306177.5 c.3445G>A p.Asp1149Asn missense_variant possibly damaging SNU368 Missense Mutation TRIM50 chr7 72738394 72738394 C T g.72738394C>T ENST00000333149.2 c.392G>A p.Arg131His missense_variant possibly damaging SNU368 Missense Mutation EIF4H chr7 73604606 73604606 G A g.73604606G>A ENST00000265753.8 c.439G>A p.Gly147Arg missense_variant benign SNU368 Missense Mutation CDK14 chr7 90741928 90741928 C T g.90741928C>T ENST00000265741.3 c.1172C>T p.Ser391Leu missense_variant probably damaging SNU368 Missense Mutation ZFPM2 chr8 106813325 106813325 G A g.106813325G>A ENST00000407775.2 c.1015G>A p.Val339Ile missense_variant benign SNU368 Missense Mutation PKHD1L1 chr8 110394774 110394774 A G g.110394774A>G ENST00000378402.5 c.391A>G p.Ile131Val missense_variant benign SNU368 Missense Mutation NSMCE2 chr8 126163472 126163472 C T g.126163472C>T ENST00000287437.3 c.217C>T p.Arg73Trp missense_variant probably damaging SNU368 Missense Mutation GSDMD chr8 144642000 144642000 C G g.144642000C>G ENST00000262580.4 c.271C>G p.Gln91Glu missense_variant benign SNU368 Missense Mutation PCM1 chr8 17817903 17817903 G A g.17817903G>A ENST00000325083.8 c.2272G>A p.Asp758Asn missense_variant benign SNU368 Missense Mutation ADAM28 chr8 24187614 24187614 G A g.24187614G>A ENST00000265769.4 c.1089G>A p.Met363Ile missense_variant probably damaging SNU368 Missense Mutation CHD7 chr8 61732569 61732569 G A g.61732569G>A ENST00000423902.2 c.2617G>A p.Glu873Lys missense_variant benign SNU368 Missense Mutation C9orf156 chr9 100684754 100684754 C T g.100684754C>T ENST00000375119.3 c.22G>A p.Gly8Arg missense_variant benign SNU368 Missense Mutation ZNF618 chr9 116812388 116812388 C T g.116812388C>T ENST00000288466.7 c.2527C>T p.Arg843Trp missense_variant probably damaging SNU368 Missense Mutation GARNL3 chr9 130155507 130155507 G A g.130155507G>A ENST00000373387.4 c.3016G>A p.Asp1006Asn missense_variant benign SNU368 Missense Mutation CCBL1 chr9 131607668 131607668 T G g.131607668T>G ENST00000302586.3 c.17A>C p.Gln6Pro missense_variant benign SNU368 Missense Mutation MPDZ chr9 13216778 13216778 T C g.13216778T>C ENST00000319217.7 c.1285A>G p.Ile429Val missense_variant benign SNU368 Missense Mutation FNBP1 chr9 132662784 132662784 C T g.132662784C>T ENST00000446176.2 c.1471G>A p.Glu491Lys missense_variant benign SNU368 Missense Mutation PMPCA chr9 139313059 139313059 G C g.139313059G>C ENST00000371717.3 c.1043G>C p.Gly348Ala missense_variant possibly damaging SNU368 Missense Mutation CNTLN chr9 17273829 17273829 A T g.17273829A>T ENST00000262360.5 c.948A>T p.Glu316Asp missense_variant benign SNU368 Missense Mutation DENND4C chr9 19316694 19316694 T C g.19316694T>C ENST00000380432.2 c.956T>C p.Met319Thr missense_variant benign SNU368 Missense Mutation CDKN2A chr9 21971203 21971203 A C g.21971203A>C ENST00000304494.5 c.155T>G p.Met52Arg missense_variant possibly damaging SNU368 Missense Mutation TEK chr9 27206765 27206765 G T g.27206765G>T ENST00000380036.4 c.2550G>T p.Met850Ile missense_variant possibly damaging SNU368 Missense Mutation ANKRD18B chr9 33548645 33548645 G A g.33548645G>A NM_001244752.1 c.1670G>A p.Arg557Gln missense_variant benign SNU368 Missense Mutation CCIN chr9 36169905 36169905 T C g.36169905T>C ENST00000335119.2 c.406T>C p.Tyr136His missense_variant probably damaging SNU368 Missense Mutation KIAA1432 chr9 5747400 5747400 C G g.5747400C>G ENST00000251879.6 c.1347C>G p.His449Gln missense_variant benign SNU368 Missense Mutation PGM5 chr9 71098912 71098912 C T g.71098912C>T ENST00000396396.1 c.1427C>T p.Thr476Met missense_variant possibly damaging SNU368 Missense Mutation IARS chr9 95032207 95032207 T C g.95032207T>C ENST00000375643.3 c.1264A>G p.Met422Val missense_variant benign SNU368 Missense Mutation CENPP chr9 95142121 95142121 C T g.95142121C>T ENST00000375587.3 c.544C>T p.Arg182Cys missense_variant benign SNU368 Missense Mutation C9orf129 chr9 96080729 96080729 G A g.96080729G>A ENST00000375419.1 c.542C>T p.Pro181Leu missense_variant benign SNU368 Missense Mutation PTCH1 chr9 98279017 98279017 C A g.98279017C>A ENST00000375274.2 c.86G>T p.Gly29Val missense_variant damaging SNU368 Missense Mutation SLC6A14 chrX 115572144 115572144 G T g.115572144G>T ENST00000371900.4 c.225G>T p.Leu75Phe missense_variant probably damaging SNU368 Missense Mutation CXorf23 chrX 19984418 19984418 G A g.19984418G>A ENST00000356980.3 c.391C>T p.Pro131Ser missense_variant benign SNU368 Missense Mutation ZNF645 chrX 22291517 22291517 C A g.22291517C>A ENST00000323684.1 c.409C>A p.Arg137Ser missense_variant possibly damaging SNU368 Missense Mutation POLA1 chrX 24745185 24745185 C A g.24745185C>A ENST00000379059.3 c.1510C>A p.Pro504Thr missense_variant probably damaging SNU368 Missense Mutation MXRA5 chrX 3239245 3239245 G A g.3239245G>A ENST00000217939.6 c.4481C>T p.Ser1494Leu missense_variant benign SNU739 Missense Mutation AP4B1 chr1 114442556 114442556 C A g.114442556C>A ENST00000256658.4 c.1084G>T p.Asp362Tyr missense_variant probably damaging SNU739 Missense Mutation SLC22A15 chr1 116579932 116579932 G A g.116579932G>A ENST00000369503.4 c.1094G>A p.Arg365Gln missense_variant probably damaging SNU739 Missense Mutation MTHFR chr1 11863022 11863022 C T g.11863022C>T ENST00000376590.3 c.152G>A p.Arg51Gln missense_variant probably damaging SNU739 Missense Mutation DVL1 chr1 1271557 1271557 C T g.1271557C>T ENST00000378891.5 c.1978G>A p.Gly660Arg missense_variant probably damaging SNU739 Missense Mutation C1orf51 chr1 150259184 150259184 A T g.150259184A>T ENST00000290363.5 c.976A>T p.Met326Leu missense_variant benign SNU739 Missense Mutation BNIPL chr1 151010995 151010995 G C g.151010995G>C ENST00000368931.3 c.153G>C p.Glu51Asp missense_variant probably damaging SNU739 Missense Mutation IVL chr1 152882410 152882410 A G g.152882410A>G ENST00000368764.3 c.137A>G p.Lys46Arg missense_variant probably damaging SNU739 Missense Mutation NPR1 chr1 153651622 153651622 G T g.153651622G>T ENST00000368680.3 c.38G>T p.Arg13Leu missense_variant benign SNU739 Missense Mutation MIB2 chr1 1560479 1560479 G A g.1560479G>A ENST00000357210.4 c.809G>A p.Arg270His missense_variant probably damaging SNU739 Missense Mutation SPEN chr1 16235857 16235857 G C g.16235857G>C ENST00000375759.3 c.923G>C p.Arg308Pro missense_variant probably damaging SNU739 Missense Mutation DCAF6 chr1 167944183 167944183 C G g.167944183C>G ENST00000312263.6 c.368C>G p.Thr123Ser missense_variant probably damaging SNU739 Missense Mutation ALDH4A1 chr1 19209807 19209807 G A g.19209807G>A ENST00000290597.5 c.569C>T p.Pro190Leu missense_variant benign SNU739 Missense Mutation IGFN1 chr1 201186421 201186421 C T g.201186421C>T ENST00000335211.4 c.9602C>T p.Pro3201Leu missense_variant probably damaging SNU739 Missense Mutation PLEKHA6 chr1 204199666 204199666 T A g.204199666T>A ENST00000272203.3 c.2458A>T p.Ser820Cys missense_variant probably damaging SNU739 Missense Mutation HSPG2 chr1 22158206 22158206 C T g.22158206C>T ENST00000374695.3 c.11291G>A p.Arg3764His missense_variant probably damaging SNU739 Missense Mutation CDC42BPA chr1 227182658 227182658 C T g.227182658C>T ENST00000366769.3 c.4894G>A p.Ala1632Thr missense_variant probably damaging SNU739 Missense Mutation OR2T4 chr1 248524992 248524992 A G g.248524992A>G ENST00000366475.1 c.110A>G p.Asn37Ser missense_variant benign SNU739 Missense Mutation AUNIP chr1 26161924 26161924 C T g.26161924C>T ENST00000374298.3 c.634G>A p.Glu212Lys missense_variant benign SNU739 Missense Mutation PTPRU chr1 29581862 29581862 A T g.29581862A>T ENST00000323874.8 c.149A>T p.Gln50Leu missense_variant possibly damaging SNU739 Missense Mutation TRIM62 chr1 33625445 33625445 G A g.33625445G>A ENST00000291416.5 c.605C>T p.Ala202Val missense_variant benign SNU739 Missense Mutation MEGF6 chr1 3511910 3511910 C T g.3511910C>T ENST00000356575.4 c.368G>A p.Cys123Tyr missense_variant probably damaging SNU739 Missense Mutation YIPF1 chr1 54332570 54332570 G A g.54332570G>A ENST00000072644.1 c.509C>T p.Ala170Val missense_variant benign SNU739 Missense Mutation CYP2J2 chr1 60373527 60373527 C T g.60373527C>T ENST00000371204.3 c.934G>A p.Gly312Arg missense_variant probably damaging SNU739 Missense Mutation FUBP1 chr1 78435650 78435650 T C g.78435650T>C ENST00000294623.4 c.170A>G p.Asp57Gly missense_variant,NMD_transcript_variant possibly damaging SNU739 Missense Mutation ISG15 chr1 949649 949649 G A g.949649G>A ENST00000379389.4 c.289G>A p.Glu97Lys missense_variant probably damaging SNU739 Missense Mutation ABCC2 chr10 101578633 101578633 C A g.101578633C>A ENST00000370449.4 c.2358C>A p.Asp786Glu missense_variant probably damaging SNU739 Missense Mutation SORCS1 chr10 108431026 108431026 G C g.108431026G>C ENST00000263054.6 c.2158C>G p.Pro720Ala missense_variant probably damaging SNU739 Missense Mutation MKX chr10 28023423 28023423 G A g.28023423G>A ENST00000375790.5 c.800C>T p.Ser267Leu missense_variant possibly damaging SNU739 Missense Mutation FBXO18 chr10 5948198 5948198 C T g.5948198C>T ENST00000362091.4 c.356C>T p.Pro119Leu missense_variant benign SNU739 Missense Mutation ANK3 chr10 61894114 61894114 G A g.61894114G>A ENST00000280772.2 c.2756C>T p.Ser919Leu missense_variant probably damaging SNU739 Missense Mutation CDH23 chr10 73550144 73550144 G T g.73550144G>T NM_022124.5 c.6023G>T p.Gly2008Val missense_variant benign SNU739 Missense Mutation RPS24 chr10 79797046 79797046 T C g.79797046T>C ENST00000360830.4 c.374T>C p.Val125Ala missense_variant possibly damaging SNU739 Missense Mutation LRIT2 chr10 85982013 85982013 G A g.85982013G>A ENST00000372113.4 c.1316C>T p.Pro439Leu missense_variant benign SNU739 Missense Mutation LRIT1 chr10 85991756 85991756 G A g.85991756G>A ENST00000372105.3 c.1799C>T p.Ser600Leu missense_variant probably damaging SNU739 Missense Mutation LRIT1 chr10 85992412 85992412 C G g.85992412C>G ENST00000372105.3 c.1143G>C p.Arg381Ser missense_variant benign SNU739 Missense Mutation PLCE1 chr10 95892037 95892037 T C g.95892037T>C ENST00000260766.3 c.1313T>C p.Val438Ala missense_variant benign SNU739 Missense Mutation C10orf12 chr10 98741997 98741997 T C g.98741997T>C ENST00000286067.2 c.850T>C p.Cys284Arg missense_variant possibly damaging SNU739 Missense Mutation CNTN5 chr11 100141917 100141917 C T g.100141917C>T ENST00000279463.3 c.2258C>T p.Pro753Leu missense_variant benign SNU739 Missense Mutation MUC6 chr11 1026029 1026029 C T g.1026029C>T ENST00000421673.2 c.2659G>A p.Asp887Asn missense_variant probably damaging SNU739 Missense Mutation DYNC2H1 chr11 103270550 103270550 T G g.103270550T>G ENST00000375735.2 c.12316T>G p.Leu4106Val missense_variant probably damaging SNU739 Missense Mutation NXPE1 chr11 114398595 114398595 C A g.114398595C>A ENST00000251921.2 c.436G>T p.Asp146Tyr missense_variant benign SNU739 Missense Mutation ZNF259 chr11 116657742 116657742 C T g.116657742C>T ENST00000227322.3 c.367G>A p.Ala123Thr missense_variant probably damaging SNU739 Missense Mutation MOB2 chr11 1501710 1501710 G A g.1501710G>A ENST00000329957.6 c.278C>T p.Thr93Met missense_variant probably damaging SNU739 Missense Mutation ABCC8 chr11 17436869 17436869 G A g.17436869G>A ENST00000389817.3 c.2273C>T p.Ala758Val missense_variant benign SNU739 Missense Mutation RAG2 chr11 36614347 36614347 A G g.36614347A>G ENST00000311485.3 c.1372T>C p.Cys458Arg missense_variant possibly damaging SNU739 Missense Mutation GYLTL1B chr11 45950259 45950259 C T g.45950259C>T ENST00000325468.5 c.2029C>T p.Arg677Cys missense_variant probably damaging SNU739 Missense Mutation FNBP4 chr11 47744778 47744778 T C g.47744778T>C ENST00000263773.5 c.2555A>G p.Gln852Arg missense_variant possibly damaging SNU739 Missense Mutation PTPRJ chr11 48157812 48157812 G A g.48157812G>A ENST00000418331.2 c.1837G>A p.Val613Ile missense_variant benign SNU739 Missense Mutation OR51I2 chr11 5475317 5475317 T C g.5475317T>C ENST00000341449.2 c.599T>C p.Leu200Pro missense_variant probably damaging SNU739 Missense Mutation LRRC56 chr11 554197 554197 G A g.554197G>A ENST00000270115.7 c.1550G>A p.Gly517Asp missense_variant benign SNU739 Missense Mutation OR5B3 chr11 58170410 58170410 G A g.58170410G>A ENST00000309403.2 c.473C>T p.Thr158Ile missense_variant benign SNU739 Missense Mutation PHRF1 chr11 609019 609019 G C g.609019G>C ENST00000416188.2 c.3560G>C p.Arg1187Pro missense_variant benign SNU739 Missense Mutation SLC22A24 chr11 62902157 62902157 T C g.62902157T>C ENST00000326192.5 c.486A>G p.Ile162Met missense_variant benign SNU739 Missense Mutation DNHD1 chr11 6578228 6578228 T C g.6578228T>C ENST00000254579.6 c.7703T>C p.Val2568Ala missense_variant possibly damaging SNU739 Missense Mutation PLEKHB1 chr11 73371867 73371867 G C g.73371867G>C ENST00000354190.5 c.565G>C p.Val189Leu missense_variant benign SNU739 Missense Mutation SCYL2 chr12 100732391 100732391 G T g.100732391G>T ENST00000360820.2 c.2231G>T p.Ser744Ile missense_variant benign SNU739 Missense Mutation UTP20 chr12 101738481 101738481 C T g.101738481C>T ENST00000261637.4 c.4558C>T p.Arg1520Cys missense_variant probably damaging SNU739 Missense Mutation KLRK1 chr12 10525783 10525783 G A g.10525783G>A ENST00000240618.6 c.581C>T p.Ser194Leu missense_variant probably damaging SNU739 Missense Mutation UBE3B chr12 109962300 109962300 A G g.109962300A>G ENST00000342494.3 c.2560A>G p.Met854Val missense_variant possibly damaging SNU739 Missense Mutation VSIG10 chr12 118517256 118517256 C T g.118517256C>T ENST00000359236.5 c.820G>A p.Val274Met missense_variant probably damaging SNU739 Missense Mutation LRRC43 chr12 122669241 122669241 G A g.122669241G>A ENST00000339777.4 c.326G>A p.Arg109Lys missense_variant benign SNU739 Missense Mutation HCAR3 chr12 123201220 123201220 C T g.123201220C>T ENST00000528880.2 c.65G>A p.Arg22Gln missense_variant benign SNU739 Missense Mutation DHX37 chr12 125453094 125453094 C T g.125453094C>T ENST00000308736.2 c.1394G>A p.Arg465Gln missense_variant possibly damaging SNU739 Missense Mutation EP400 chr12 132512827 132512827 T C g.132512827T>C ENST00000389562.2 c.5372T>C p.Ile1791Thr missense_variant benign SNU739 Missense Mutation ZNF605 chr12 133502716 133502716 T G g.133502716T>G ENST00000360187.4 c.1169A>C p.Glu390Ala missense_variant benign SNU739 Missense Mutation ZNF26 chr12 133586815 133586815 G A g.133586815G>A ENST00000328654.5 c.350G>A p.Ser117Asn missense_variant benign SNU739 Missense Mutation ZNF26 chr12 133586816 133586816 C G g.133586816C>G ENST00000328654.5 c.351C>G p.Ser117Arg missense_variant benign SNU739 Missense Mutation PIK3C2G chr12 18435389 18435389 C T g.18435389C>T ENST00000266497.5 c.374C>T p.Ser125Phe missense_variant possibly damaging SNU739 Missense Mutation SYT10 chr12 33535314 33535314 C T g.33535314C>T ENST00000228567.3 c.1340G>A p.Ser447Asn missense_variant possibly damaging SNU739 Missense Mutation MUC19 chr12 40838017 40838017 G A g.40838017G>A ENST00000454784.4 c.2599G>A p.A867T missense_variant NA SNU739 Missense Mutation KCNA1 chr12 5021148 5021148 G A g.5021148G>A ENST00000382545.3 c.604G>A p.Val202Ile missense_variant benign SNU739 Missense Mutation ATF1 chr12 51207901 51207901 C G g.51207901C>G ENST00000262053.3 c.437C>G p.Thr146Arg missense_variant probably damaging SNU739 Missense Mutation KRT73 chr12 53007492 53007492 C T g.53007492C>T ENST00000305748.3 c.964G>A p.Glu322Lys missense_variant benign SNU739 Missense Mutation DCD chr12 55042039 55042039 C T g.55042039C>T ENST00000293371.6 c.49G>A p.Val17Ile missense_variant probably damaging SNU739 Missense Mutation MON2 chr12 62940723 62940723 T C g.62940723T>C ENST00000393629.2 c.2624T>C p.Ile875Thr missense_variant benign SNU739 Missense Mutation LGR5 chr12 71898450 71898450 G A g.71898450G>A ENST00000266674.5 c.269G>A p.Arg90His missense_variant benign SNU739 Missense Mutation CLEC4E chr12 8692456 8692456 C A g.8692456C>A ENST00000299663.3 c.125G>T p.Cys42Phe missense_variant probably damaging SNU739 Missense Mutation A2ML1 chr12 8995914 8995914 C T g.8995914C>T ENST00000299698.7 c.1433C>T p.Pro478Leu missense_variant probably damaging SNU739 Missense Mutation TMPO chr12 98941544 98941544 G A g.98941544G>A ENST00000556029.1 c.1273G>A p.Val425Ile missense_variant benign SNU739 Missense Mutation CCDC168 chr13 103383176 103383176 C T g.103383176C>T NM_001146197.1 c.19871G>A p.Arg6624His missense_variant possibly damaging SNU739 Missense Mutation CCDC168 chr13 103387694 103387694 C A g.103387694C>A NM_001146197.1 c.15353G>T p.Cys5118Phe missense_variant benign SNU739 Missense Mutation UBL3 chr13 30351322 30351322 C A g.30351322C>A ENST00000380680.4 c.106G>T p.Ala36Ser missense_variant possibly damaging SNU739 Missense Mutation VWA8 chr13 42442510 42442510 C T g.42442510C>T ENST00000281496.6 c.1184G>A p.Arg395Gln missense_variant benign SNU739 Missense Mutation TGDS chr13 95243128 95243128 A T g.95243128A>T ENST00000261296.5 c.292T>A p.Phe98Ile missense_variant possibly damaging SNU739 Missense Mutation DEGS2 chr14 100613114 100613114 G A g.100613114G>A ENST00000305631.5 c.956C>T p.Ala319Val missense_variant possibly damaging SNU739 Missense Mutation ZNF839 chr14 102808328 102808328 G A g.102808328G>A ENST00000442396.2 c.2596G>A p.Val866Ile missense_variant possibly damaging SNU739 Missense Mutation OR4K13 chr14 20502644 20502644 T C g.20502644T>C ENST00000315693.2 c.274A>G p.Ile92Val missense_variant possibly damaging SNU739 Missense Mutation SYT16 chr14 62463149 62463149 T G g.62463149T>G ENST00000430451.2 c.412T>G p.Ser138Ala missense_variant benign SNU739 Missense Mutation LINC01621 chr6 80517020 80517020 A C g.80517020A>C NM_001243308.1 c.97T>G p.Ser33Ala missense_variant NA SNU739 Missense Mutation DICER1 chr14 95590896 95590896 T G g.95590896T>G ENST00000343455.3 c.1013A>C p.Glu338Ala missense_variant benign SNU739 Missense Mutation ADAMTS17 chr15 100657192 100657192 G A g.100657192G>A ENST00000268070.4 c.1748C>T p.Pro583Leu missense_variant benign SNU739 Missense Mutation PCSK6 chr15 101971646 101971646 C T g.101971646C>T ENST00000344273.2 c.533G>A p.R178H missense_variant probably damaging SNU739 Missense Mutation NDN chr15 23932103 23932103 G C g.23932103G>C ENST00000331837.4 c.262C>G p.Pro88Ala missense_variant benign SNU739 Missense Mutation GJD2 chr15 35045104 35045104 G T g.35045104G>T ENST00000290374.4 c.541C>A p.Leu181Ile missense_variant benign SNU739 Missense Mutation LTK chr15 41797690 41797690 A G g.41797690A>G ENST00000263800.6 c.1736T>C p.Leu579Pro missense_variant probably damaging SNU739 Missense Mutation PLA2G4D chr15 42371875 42371875 C A g.42371875C>A ENST00000290472.3 c.1177G>T p.Ala393Ser missense_variant benign SNU739 Missense Mutation AP4E1 chr15 51289556 51289556 A G g.51289556A>G ENST00000261842.5 c.2380A>G p.Arg794Gly missense_variant possibly damaging SNU739 Missense Mutation ZNF609 chr15 64973510 64973510 C T g.64973510C>T ENST00000326648.3 c.4165C>T p.Leu1389Phe (Splice) missense_variant,splice_region_variant probably damaging SNU739 Missense Mutation PIF1 chr15 65113473 65113473 G A g.65113473G>A ENST00000268043.4 c.979C>T p.Arg327Trp missense_variant probably damaging SNU739 Missense Mutation SPG21 chr15 65273323 65273323 T C g.65273323T>C ENST00000204566.2 c.104A>G p.Tyr35Cys missense_variant probably damaging SNU739 Missense Mutation SKOR1 chr15 68120034 68120034 G T g.68120034G>T ENST00000380035.2 c.1868G>T p.G623V missense_variant benign SNU739 Missense Mutation THSD4 chr15 71507696 71507696 G A g.71507696G>A ENST00000261862.6 c.422G>A p.Arg141Gln missense_variant probably damaging SNU739 Missense Mutation MYO9A chr15 72142474 72142474 C G g.72142474C>G ENST00000356056.5 c.6616G>C p.Ala2206Pro missense_variant possibly damaging SNU739 Missense Mutation FAM103A1 chr15 83658737 83658737 C T g.83658737C>T ENST00000304191.3 c.275C>T p.Pro92Leu missense_variant benign SNU739 Missense Mutation ANPEP chr15 90347784 90347784 G A g.90347784G>A ENST00000300060.6 c.962C>T p.Thr321Met missense_variant probably damaging SNU739 Missense Mutation TEKT5 chr16 10721535 10721535 C T g.10721535C>T ENST00000283025.2 c.1363G>A p.Ala455Thr missense_variant possibly damaging SNU739 Missense Mutation TXNDC11 chr16 11785412 11785412 G C g.11785412G>C ENST00000283033.5 c.1634C>G p.Ala545Gly missense_variant benign SNU739 Missense Mutation BFAR chr16 14743689 14743689 G A g.14743689G>A ENST00000261658.2 c.497G>A p.Ser166Asn missense_variant possibly damaging SNU739 Missense Mutation KNOP1 chr16 19718429 19718429 C T g.19718429C>T ENST00000219837.7 c.1180G>A p.Ala394Thr missense_variant benign SNU739 Missense Mutation SLX4 chr16 3633191 3633191 G C g.3633191G>C ENST00000294008.3 c.5060C>G p.Pro1687Arg missense_variant possibly damaging SNU739 Missense Mutation MYLK3 chr16 46766279 46766279 C G g.46766279C>G ENST00000394809.4 c.1303G>C p.Asp435His missense_variant possibly damaging SNU739 Missense Mutation UBN1 chr16 4925076 4925076 C T g.4925076C>T ENST00000262376.6 c.2665C>T p.Pro889Ser missense_variant benign SNU739 Missense Mutation PPL chr16 4938168 4938168 C G g.4938168C>G ENST00000345988.2 c.2449G>C p.Gly817Arg missense_variant benign SNU739 Missense Mutation SLC6A2 chr16 55725887 55725887 G T g.55725887G>T ENST00000219833.8 c.841G>T p.Gly281Cys missense_variant probably damaging SNU739 Missense Mutation CES5A chr16 55895398 55895398 T C g.55895398T>C ENST00000290567.9 c.841A>G p.Asn281Asp missense_variant possibly damaging SNU739 Missense Mutation SLC12A3 chr16 56899326 56899326 C T g.56899326C>T ENST00000262502.5 c.179C>T p.Thr60Met missense_variant probably damaging SNU739 Missense Mutation CDH8 chr16 61689594 61689594 A C g.61689594A>C ENST00000299345.6 c.1686T>G p.Asn562Lys missense_variant benign SNU739 Missense Mutation CDH5 chr16 66436777 66436777 A G g.66436777A>G ENST00000341529.3 c.2060A>G p.Gln687Arg missense_variant possibly damaging SNU739 Missense Mutation CES4A chr16 67042917 67042917 A T g.67042917A>T ENST00000540579.1 c.1264A>T p.Asn422Tyr missense_variant probably damaging SNU739 Missense Mutation KIAA0895L chr16 67213993 67213993 G A g.67213993G>A ENST00000290881.7 c.521C>T p.Thr174Met missense_variant benign SNU739 Missense Mutation WWP2 chr16 69970237 69970237 G T g.69970237G>T ENST00000356003.2 c.1999G>T p.Gly667Cys missense_variant probably damaging SNU739 Missense Mutation NPIPB15 chr16 74425581 74425581 C T g.74425581C>T ENST00000429990.1 c.935C>T p.P312L missense_variant possibly damaging SNU739 Missense Mutation WDR59 chr16 74951894 74951894 T C g.74951894T>C ENST00000262144.6 c.899A>G p.Tyr300Cys missense_variant benign SNU739 Missense Mutation ADAMTS18 chr16 77359784 77359784 T C g.77359784T>C ENST00000282849.5 c.2011A>G p.Lys671Glu missense_variant benign SNU739 Missense Mutation MSLN chr16 815263 815263 G A g.815263G>A ENST00000382862.3 c.664G>A p.Ala222Thr missense_variant possibly damaging SNU739 Missense Mutation OSGIN1 chr16 83998684 83998684 G A g.83998684G>A ENST00000361711.3 c.506G>A p.Arg169Gln missense_variant probably damaging SNU739 Missense Mutation ATP2C2 chr16 84493147 84493147 T A g.84493147T>A ENST00000416219.2 c.2369T>A p.Val790Glu missense_variant benign SNU739 Missense Mutation APRT chr16 88877969 88877969 T C g.88877969T>C ENST00000378364.3 c.176A>G p.Asp59Gly missense_variant probably damaging SNU739 Missense Mutation MYH8 chr17 10312685 10312685 G T g.10312685G>T ENST00000403437.2 c.1808C>A p.Pro603His missense_variant probably damaging SNU739 Missense Mutation DNAH9 chr17 11597311 11597311 G A g.11597311G>A ENST00000262442.4 c.4741G>A p.Gly1581Ser missense_variant benign SNU739 Missense Mutation FLII chr17 18154158 18154158 G T g.18154158G>T ENST00000327031.4 c.1770C>A p.Phe590Leu missense_variant probably damaging SNU739 Missense Mutation FOXN1 chr17 26861773 26861773 C T g.26861773C>T ENST00000226247.2 c.1184C>T p.Pro395Leu missense_variant benign SNU739 Missense Mutation NSRP1 chr17 28512323 28512323 T G g.28512323T>G ENST00000247026.5 c.1308T>G p.Asp436Glu missense_variant benign SNU739 Missense Mutation MED1 chr17 37564675 37564675 T C g.37564675T>C ENST00000300651.6 c.3799A>G p.Thr1267Ala missense_variant benign SNU739 Missense Mutation MED1 chr17 37580974 37580974 T C g.37580974T>C ENST00000300651.6 c.757A>G p.Met253Val missense_variant benign SNU739 Missense Mutation CASC3 chr17 38320189 38320189 T C g.38320189T>C ENST00000264645.7 c.1241T>C p.Val414Ala missense_variant benign SNU739 Missense Mutation KRT13 chr17 39658737 39658737 C T g.39658737C>T ENST00000246635.3 c.1133G>A p.Arg378His missense_variant probably damaging SNU739 Missense Mutation VAT1 chr17 41173979 41173979 C G g.41173979C>G ENST00000355653.3 c.361G>C p.Val121Leu missense_variant benign SNU739 Missense Mutation CACNA1G chr17 48655644 48655644 G A g.48655644G>A ENST00000352832.5 c.2020G>A p.Gly674Arg missense_variant possibly damaging SNU739 Missense Mutation DGKE chr17 54940056 54940056 C A g.54940056C>A ENST00000284061.3 c.1608C>A p.His536Gln missense_variant possibly damaging SNU739 Missense Mutation AXIN2 chr17 63554308 63554308 A G g.63554308A>G ENST00000307078.5 c.431T>C p.Ile144Thr missense_variant benign SNU739 Missense Mutation KIF19 chr17 72350363 72350363 C T g.72350363C>T ENST00000389916.4 c.2371C>T p.Arg791Trp missense_variant probably damaging SNU739 Missense Mutation TP53I13 chr17 27898691 27898691 T C g.27898691T>C ENST00000301057.7 c.266T>C p.Met89Thr missense_variant benign SNU739 Missense Mutation TP53 chr17 7578204 7578204 A C g.7578204A>C ENST00000269305.4 c.645T>G p.Ser215Arg missense_variant probably damaging SNU739 Missense Mutation ENTHD2 chr17 79202756 79202756 G A g.79202756G>A ENST00000300714.3 c.1550C>T p.Pro517Leu missense_variant benign SNU739 Missense Mutation C17orf70 chr17 79518967 79518967 G A g.79518967G>A ENST00000327787.8 c.277C>T p.Pro93Ser missense_variant benign SNU739 Missense Mutation C17orf59 chr17 8093428 8093428 C G g.8093428C>G ENST00000389017.4 c.31G>C p.Glu11Gln missense_variant benign SNU739 Missense Mutation MYH10 chr17 8383437 8383437 T A g.8383437T>A ENST00000269243.4 c.5495A>T p.Gln1832Leu missense_variant benign SNU739 Missense Mutation CEP76 chr18 12686400 12686400 C T g.12686400C>T ENST00000262127.2 c.983G>A p.Arg328Gln missense_variant benign SNU739 Missense Mutation ASXL3 chr18 31319764 31319764 C T g.31319764C>T ENST00000269197.5 c.2396C>T p.Ser799Phe missense_variant probably damaging SNU739 Missense Mutation KATNAL2 chr18 44584652 44584652 A G g.44584652A>G ENST00000245121.5 c.163A>G p.Arg55Gly missense_variant benign SNU739 Missense Mutation LIPG chr18 47113163 47113163 G A g.47113163G>A ENST00000261292.4 c.1424G>A p.Gly475Asp missense_variant probably damaging SNU739 Missense Mutation DSEL chr18 65180600 65180600 C A g.65180600C>A ENST00000310045.7 c.1276G>T p.Gly426Cys missense_variant probably damaging SNU739 Missense Mutation C18orf63 chr18 71995231 71995231 C T g.71995231C>T ENST00000579455.1 c.320C>T p.Ser107Leu missense_variant NA SNU739 Missense Mutation PTPRM chr18 7949303 7949303 G A g.7949303G>A ENST00000332175.8 c.788G>A p.Arg263His missense_variant benign SNU739 Missense Mutation ATP8B3 chr19 1795951 1795951 T C g.1795951T>C ENST00000310127.6 c.1978A>G p.Lys660Glu missense_variant probably damaging SNU739 Missense Mutation ZNF85 chr19 21132235 21132235 A C g.21132235A>C ENST00000328178.8 c.915A>C p.Arg305Ser missense_variant possibly damaging SNU739 Missense Mutation SHC2 chr19 430696 430696 A G g.430696A>G ENST00000264554.6 c.1162T>C p.Ser388Pro missense_variant benign SNU739 Missense Mutation ZNF229 chr19 44933808 44933808 C G g.44933808C>G ENST00000588931.1 c.1148G>C p.Gly383Ala missense_variant probably damaging SNU739 Missense Mutation PLIN4 chr19 4504500 4504500 G A g.4504500G>A ENST00000301286.3 c.4045C>T p.Pro1349Ser missense_variant probably damaging SNU739 Missense Mutation APOE chr19 45412265 45412265 G A g.45412265G>A ENST00000252486.4 c.712G>A p.Glu238Lys missense_variant benign SNU739 Missense Mutation CKM chr19 45815062 45815062 G A g.45815062G>A ENST00000221476.3 c.598C>T p.Pro200Ser missense_variant possibly damaging SNU739 Missense Mutation PPP1R13L chr19 45899812 45899812 G A g.45899812G>A ENST00000360957.5 c.703C>T p.Arg235Cys missense_variant benign SNU739 Missense Mutation TRPM4 chr19 49699897 49699897 A G g.49699897A>G ENST00000252826.5 c.2411A>G p.Asp804Gly missense_variant probably damaging SNU739 Missense Mutation SIGLEC7 chr19 51645750 51645750 G C g.51645750G>C ENST00000305628.7 c.124G>C p.Val42Leu missense_variant probably damaging SNU739 Missense Mutation SIGLEC6 chr19 52034108 52034108 G T g.52034108G>T ENST00000343300.4 c.533C>A p.Pro178His missense_variant probably damaging SNU739 Missense Mutation LILRB2 chr19 54783882 54783882 G A g.54783882G>A ENST00000314446.5 c.119C>T p.Thr40Ile missense_variant benign SNU739 Missense Mutation SAFB2 chr19 5590305 5590305 G T g.5590305G>T ENST00000252542.4 c.2509C>A p.Leu837Met missense_variant benign SNU739 Missense Mutation SBK2 chr19 56041687 56041687 C T g.56041687C>T ENST00000344158.3 c.460G>A p.Gly154Ser missense_variant probably damaging SNU739 Missense Mutation EPN1 chr19 56189937 56189937 C T g.56189937C>T ENST00000411543.2 c.277C>T p.Arg93Cys missense_variant benign SNU739 Missense Mutation ZNF606 chr19 58490075 58490075 C G g.58490075C>G ENST00000341164.4 c.1973G>C p.Gly658Ala missense_variant probably damaging SNU739 Missense Mutation ZNF544 chr19 58755399 58755399 C T g.58755399C>T ENST00000269829.4 c.10C>T p.Arg4Cys missense_variant benign SNU739 Missense Mutation SH2D3A chr19 6753556 6753556 C G g.6753556C>G ENST00000245908.6 c.1481G>C p.Cys494Ser missense_variant benign SNU739 Missense Mutation INSR chr19 7132295 7132295 C T g.7132295C>T ENST00000302850.5 c.2716G>A p.Ala906Thr missense_variant benign SNU739 Missense Mutation LPIN1 chr2 11911750 11911750 A G g.11911750A>G ENST00000256720.2 c.541A>G p.Met181Val missense_variant benign SNU739 Missense Mutation NCKAP5 chr2 133531428 133531428 C T g.133531428C>T ENST00000317721.6 c.5089G>A p.Asp1697Asn missense_variant possibly damaging SNU739 Missense Mutation ZEB2 chr2 145157466 145157466 G T g.145157466G>T ENST00000303660.4 c.1288C>A p.Pro430Thr missense_variant benign SNU739 Missense Mutation TANC1 chr2 160084454 160084454 C T g.160084454C>T ENST00000263635.6 c.4028C>T p.Ser1343Leu missense_variant probably damaging SNU739 Missense Mutation DLX1 chr2 172952977 172952977 C T g.172952977C>T ENST00000361725.4 c.760C>T p.Leu254Phe missense_variant possibly damaging SNU739 Missense Mutation PDE11A chr2 178592397 178592397 C T g.178592397C>T ENST00000286063.6 c.2032G>A p.Ala678Thr missense_variant probably damaging SNU739 Missense Mutation TTN chr2 179404310 179404310 T C g.179404310T>C ENST00000591111.1 c.93559A>G p.Ile31187Val missense_variant benign SNU739 Missense Mutation CCDC141 chr2 179843309 179843309 C T g.179843309C>T ENST00000409284.1 c.319G>A p.Glu107Lys missense_variant benign SNU739 Missense Mutation NBEAL1 chr2 203996741 203996741 A C g.203996741A>C ENST00000449802.1 c.3523A>C p.Lys1175Gln missense_variant probably damaging SNU739 Missense Mutation RAPH1 chr2 204354447 204354447 C T g.204354447C>T ENST00000308091.4 c.592G>A p.Asp198Asn missense_variant probably damaging SNU739 Missense Mutation BARD1 chr2 215593543 215593543 G A g.215593543G>A ENST00000260947.4 c.2191C>T p.Arg731Cys missense_variant probably damaging SNU739 Missense Mutation PSMD1 chr2 231937066 231937066 C T g.231937066C>T ENST00000308696.6 c.818C>T p.Thr273Ile missense_variant benign SNU739 Missense Mutation GPR113 chr2 26537311 26537311 G A g.26537311G>A ENST00000311519.1 c.1103C>T p.Ala368Val missense_variant benign SNU739 Missense Mutation FAM98A chr2 33810180 33810180 C A g.33810180C>A ENST00000238823.8 c.1220G>T p.Gly407Val missense_variant probably damaging SNU739 Missense Mutation RMDN2 chr2 38201217 38201217 A G g.38201217A>G ENST00000354545.2 c.487A>G p.Ser163Gly missense_variant possibly damaging SNU739 Missense Mutation EML6 chr2 55191141 55191141 G C g.55191141G>C ENST00000356458.6 c.5177G>C p.Ser1726Thr missense_variant benign SNU739 Missense Mutation ANKRD53 chr2 71212222 71212222 G C g.71212222G>C ENST00000360589.3 c.1385G>C p.Arg462Pro missense_variant benign SNU739 Missense Mutation LBX2 chr2 74729944 74729944 C A g.74729944C>A ENST00000460508.3 c.43G>T p.Gly15Trp missense_variant possibly damaging SNU739 Missense Mutation CST4 chr20 23669392 23669392 C T g.23669392C>T ENST00000217423.3 c.215G>A p.Arg72Gln missense_variant benign SNU739 Missense Mutation ZNF337 chr20 25656692 25656692 C A g.25656692C>A ENST00000252979.5 c.1232G>T p.Arg411Leu missense_variant possibly damaging SNU739 Missense Mutation MYLK2 chr20 30407433 30407433 C A g.30407433C>A ENST00000375985.4 c.50C>A p.Thr17Lys (Splice) missense_variant,splice_region_variant possibly damaging SNU739 Missense Mutation BPIFB4 chr20 31669403 31669403 C G g.31669403C>G ENST00000375483.3 c.71C>G p.Thr24Arg missense_variant probably damaging SNU739 Missense Mutation ADRA1D chr20 4228883 4228883 G C g.4228883G>C ENST00000379453.4 c.722C>G p.Pro241Arg missense_variant possibly damaging SNU739 Missense Mutation AURKA chr20 54945225 54945225 T G g.54945225T>G ENST00000312783.6 c.1201A>C p.Lys401Gln missense_variant benign SNU739 Missense Mutation HELZ2 chr20 62200889 62200889 C T g.62200889C>T ENST00000467148.1 c.700G>A p.Asp234Asn missense_variant benign SNU739 Missense Mutation CYYR1 chr21 27938630 27938630 G C g.27938630G>C ENST00000299340.4 c.131C>G p.Thr44Arg missense_variant possibly damaging SNU739 Missense Mutation DOPEY2 chr21 37618876 37618876 C T g.37618876C>T ENST00000399151.3 c.4598C>T p.Ser1533Phe missense_variant probably damaging SNU739 Missense Mutation PCNT chr21 47841917 47841917 C T g.47841917C>T ENST00000359568.5 c.7058C>T p.Pro2353Leu missense_variant benign SNU739 Missense Mutation PRODH chr22 18918593 18918593 C T g.18918593C>T ENST00000357068.6 c.392G>A p.Arg131Gln missense_variant benign SNU739 Missense Mutation RAB36 chr22 23487656 23487656 T A g.23487656T>A ENST00000263116.2 c.104T>A p.Val35Glu missense_variant benign SNU739 Missense Mutation TTC28 chr22 29025662 29025662 C G g.29025662C>G ENST00000397906.2 c.259G>C p.Val87Leu missense_variant benign SNU739 Missense Mutation SLC16A8 chr22 38474490 38474490 C T g.38474490C>T ENST00000320521.5 c.1420G>A p.Gly474Ser missense_variant benign SNU739 Missense Mutation PNPLA5 chr22 44287051 44287051 G C g.44287051G>C ENST00000216177.4 c.317C>G p.Pro106Arg missense_variant benign SNU739 Missense Mutation KIAA2018 chr3 113377085 113377085 C A g.113377085C>A ENST00000316407.4 c.3444G>T p.Lys1148Asn missense_variant probably damaging SNU739 Missense Mutation C3orf30 chr3 118865224 118865224 C T g.118865224C>T ENST00000295622.1 c.188C>T p.Ala63Val missense_variant benign SNU739 Missense Mutation HCLS1 chr3 121351025 121351025 G A g.121351025G>A ENST00000314583.3 c.1247C>T p.Ser416Leu missense_variant benign SNU739 Missense Mutation LOC643802 chr16 53404640 53404640 C A g.53404640C>A NM_001207030.1 c.262G>T p.D88Y missense_variant NA SNU739 Missense Mutation KLF15 chr3 126071584 126071584 C T g.126071584C>T ENST00000296233.3 c.182G>A p.Cys61Tyr missense_variant possibly damaging SNU739 Missense Mutation KBTBD12 chr3 127642801 127642801 T G g.127642801T>G ENST00000405109.1 c.897T>G p.Phe299Leu missense_variant probably damaging SNU739 Missense Mutation MRPL3 chr3 131181605 131181605 C T g.131181605C>T ENST00000264995.3 c.1009G>A p.Val337Met missense_variant possibly damaging SNU739 Missense Mutation ANKRD28 chr3 15755091 15755091 C T g.15755091C>T ENST00000399451.2 c.1043G>A p.Arg348Gln missense_variant probably damaging SNU739 Missense Mutation WDR49 chr3 167217965 167217965 G T g.167217965G>T ENST00000308378.3 c.1951C>A p.Leu651Met missense_variant possibly damaging SNU739 Missense Mutation MFN1 chr3 179096477 179096477 T C g.179096477T>C ENST00000263969.5 c.1537T>C p.Cys513Arg missense_variant probably damaging SNU739 Missense Mutation CCDC39 chr3 180372641 180372641 T C g.180372641T>C ENST00000442201.2 c.839A>G p.Glu280Gly missense_variant probably damaging SNU739 Missense Mutation LAMP3 chr3 182871523 182871523 G C g.182871523G>C ENST00000265598.3 c.706C>G p.Leu236Val missense_variant possibly damaging SNU739 Missense Mutation ALG3 chr3 183961413 183961413 C T g.183961413C>T ENST00000397676.3 c.938G>A p.Gly313Glu missense_variant benign SNU739 Missense Mutation FETUB chr3 186358419 186358419 A T g.186358419A>T ENST00000265029.3 c.170A>T p.Lys57Met missense_variant probably damaging SNU739 Missense Mutation EIF4A2 chr3 186501413 186501413 C T g.186501413C>T ENST00000323963.5 c.14C>T p.Ser5Phe missense_variant benign SNU739 Missense Mutation KCNH8 chr3 19575088 19575088 G A g.19575088G>A ENST00000328405.2 c.2821G>A p.Gly941Arg missense_variant possibly damaging SNU739 Missense Mutation PCYT1A chr3 195997297 195997297 G A g.195997297G>A ENST00000292823.2 c.106C>T p.Arg36Cys missense_variant benign SNU739 Missense Mutation MFI2 chr3 196735553 196735553 G T g.196735553G>T ENST00000296350.5 c.1725C>A p.His575Gln missense_variant probably damaging SNU739 Missense Mutation DCLK3 chr3 36759527 36759527 G T g.36759527G>T ENST00000416516.2 c.1727C>A p.Pro576His missense_variant possibly damaging SNU739 Missense Mutation ZNF445 chr3 44488161 44488161 G A g.44488161G>A ENST00000396077.2 c.3002C>T p.Thr1001Ile missense_variant probably damaging SNU739 Missense Mutation LIMD1 chr3 45636414 45636414 A T g.45636414A>T ENST00000273317.4 c.43A>T p.Ile15Phe missense_variant probably damaging SNU739 Missense Mutation PLXNB1 chr3 48457106 48457106 G A g.48457106G>A ENST00000296440.6 c.3680C>T p.Thr1227Met missense_variant benign SNU739 Missense Mutation GNAT1 chr3 50230825 50230825 G A g.50230825G>A ENST00000232461.3 c.277G>A p.Asp93Asn missense_variant benign SNU739 Missense Mutation GNAT1 chr3 50230826 50230826 A T g.50230826A>T ENST00000232461.3 c.278A>T p.Asp93Val missense_variant benign SNU739 Missense Mutation DNAH1 chr3 52426929 52426929 G C g.52426929G>C ENST00000420323.2 c.10362G>C p.Gln3454His missense_variant probably damaging SNU739 Missense Mutation ROBO2 chr3 77623668 77623668 T G g.77623668T>G ENST00000332191.8 c.1990T>G p.Phe664Val missense_variant probably damaging SNU739 Missense Mutation LMCD1 chr3 8590329 8590329 C T g.8590329C>T ENST00000157600.3 c.463C>T p.Arg155Cys missense_variant probably damaging SNU739 Missense Mutation RAD18 chr3 8955357 8955357 G A g.8955357G>A ENST00000264926.2 c.937C>T p.Arg313Cys missense_variant probably damaging SNU739 Missense Mutation ARPC4 chr3 9839451 9839451 G C g.9839451G>C ENST00000397261.3 c.112G>C p.Val38Leu missense_variant benign SNU739 Missense Mutation BOD1L1 chr4 13578507 13578507 G T g.13578507G>T ENST00000040738.5 c.8993C>A p.Pro2998His missense_variant benign SNU739 Missense Mutation FHDC1 chr4 153897161 153897161 G A g.153897161G>A ENST00000260008.3 c.2718G>A p.Met906Ile missense_variant benign SNU739 Missense Mutation RGS12 chr4 3318721 3318721 A G g.3318721A>G ENST00000336727.3 c.824A>G p.Lys275Arg missense_variant benign SNU739 Missense Mutation HGFAC chr4 3446558 3446558 G A g.3446558G>A ENST00000382774.3 c.854G>A p.Arg285His missense_variant benign SNU739 Missense Mutation KCTD8 chr4 44450342 44450342 C A g.44450342C>A ENST00000360029.3 c.199G>T p.Asp67Tyr missense_variant probably damaging SNU739 Missense Mutation SPATA18 chr4 52942986 52942986 G C g.52942986G>C ENST00000295213.4 c.800G>C p.Arg267Pro missense_variant probably damaging SNU739 Missense Mutation CRMP1 chr4 5862795 5862795 G T g.5862795G>T ENST00000397890.2 c.271C>A p.Gln91Lys missense_variant possibly damaging SNU739 Missense Mutation UGT2B7 chr4 69962623 69962623 G T g.69962623G>T ENST00000305231.7 c.385G>T p.Asp129Tyr missense_variant possibly damaging SNU739 Missense Mutation SORCS2 chr4 7719792 7719792 G C g.7719792G>C ENST00000507866.2 c.2306G>C p.Ser769Thr missense_variant benign SNU739 Missense Mutation COQ2 chr4 84206007 84206007 C T g.84206007C>T ENST00000311469.4 c.61G>A p.Gly21Ser missense_variant NA SNU739 Missense Mutation PTPN13 chr4 87724961 87724961 G A g.87724961G>A ENST00000411767.2 c.6605G>A p.Arg2202Gln missense_variant possibly damaging SNU739 Missense Mutation GRID2 chr4 93225826 93225826 C G g.93225826C>G ENST00000282020.4 c.19C>G p.Leu7Val missense_variant benign SNU739 Missense Mutation UNC5C chr4 96140198 96140198 C G g.96140198C>G ENST00000453304.1 c.1567G>C p.Ala523Pro missense_variant probably damaging SNU739 Missense Mutation ROPN1L chr5 10465051 10465051 G A g.10465051G>A ENST00000274134.4 c.685G>A p.Gly229Ser missense_variant benign SNU739 Missense Mutation CTNND2 chr5 11364820 11364820 G A g.11364820G>A ENST00000304623.8 c.1360C>T p.Arg454Cys missense_variant probably damaging SNU739 Missense Mutation ZNF474 chr5 121488198 121488198 T G g.121488198T>G ENST00000296600.4 c.513T>G p.Cys171Trp missense_variant probably damaging SNU739 Missense Mutation RAPGEF6 chr5 130828471 130828471 T C g.130828471T>C ENST00000296859.6 c.1535A>G p.Asn512Ser missense_variant benign SNU739 Missense Mutation PCDHB11 chr5 140581596 140581596 A T g.140581596A>T ENST00000354757.3 c.2249A>T p.Gln750Leu missense_variant benign SNU739 Missense Mutation PCDHGB1 chr5 140730158 140730158 A G g.140730158A>G ENST00000523390.1 c.331A>G p.Met111Val missense_variant benign SNU739 Missense Mutation FCHSD1 chr5 141023930 141023930 A G g.141023930A>G ENST00000435817.2 c.1718T>C p.Ile573Thr missense_variant probably damaging SNU739 Missense Mutation FAT2 chr5 150924212 150924212 A G g.150924212A>G ENST00000261800.5 c.6476T>C p.Val2159Ala missense_variant probably damaging SNU739 Missense Mutation SOX30 chr5 157078561 157078561 C T g.157078561C>T ENST00000265007.6 c.526G>A p.Gly176Ser missense_variant benign SNU739 Missense Mutation PWWP2A chr5 159519594 159519594 C T g.159519594C>T ENST00000307063.7 c.2063G>A p.Arg688Gln missense_variant probably damaging SNU739 Missense Mutation SLC34A1 chr5 176813305 176813305 G A g.176813305G>A ENST00000324417.5 c.343G>A p.Val115Ile missense_variant possibly damaging SNU739 Missense Mutation PFN3 chr5 176827309 176827309 G A g.176827309G>A ENST00000358571.2 c.269C>T p.Thr90Ile missense_variant probably damaging SNU739 Missense Mutation CBY3 chr5 179105655 179105655 T G g.179105655T>G ENST00000376974.4 c.658A>C p.Lys220Gln missense_variant NA SNU739 Missense Mutation NIPBL chr5 36985443 36985443 C G g.36985443C>G ENST00000282516.8 c.2161C>G p.His721Asp missense_variant benign SNU739 Missense Mutation MROH2B chr5 41010067 41010067 T C g.41010067T>C ENST00000399564.4 c.3250A>G p.Thr1084Ala missense_variant benign SNU739 Missense Mutation MROH2B chr5 41010109 41010109 T C g.41010109T>C ENST00000399564.4 c.3208A>G p.Ile1070Val missense_variant benign SNU739 Missense Mutation NNT chr5 43675682 43675682 C A g.43675682C>A ENST00000264663.5 c.2704C>A p.Pro902Thr missense_variant probably damaging SNU739 Missense Mutation ANKRD31 chr5 74414064 74414064 T C g.74414064T>C ENST00000274361.3 c.3764A>G p.Lys1255Arg missense_variant NA SNU739 Missense Mutation IQGAP2 chr5 75893425 75893425 A G g.75893425A>G ENST00000274364.6 c.1069A>G p.Met357Val (Splice) missense_variant,splice_region_variant benign SNU739 Missense Mutation THBS4 chr5 79373931 79373931 A G g.79373931A>G ENST00000350881.2 c.2146A>G p.Ile716Val missense_variant benign SNU739 Missense Mutation SERINC5 chr5 79439551 79439551 C T g.79439551C>T ENST00000512721.1 c.1321G>A p.Val441Met missense_variant possibly damaging SNU739 Missense Mutation BVES chr6 105549004 105549004 G A g.105549004G>A ENST00000314641.5 c.1043C>T p.Pro348Leu missense_variant benign SNU739 Missense Mutation PAK1IP1 chr6 10709486 10709486 C T g.10709486C>T ENST00000379568.3 c.980C>T p.Ser327Phe missense_variant possibly damaging SNU739 Missense Mutation GPRC6A chr6 117121799 117121799 T C g.117121799T>C ENST00000310357.3 c.1496A>G p.Asp499Gly missense_variant benign SNU739 Missense Mutation HIVEP1 chr6 12124567 12124567 T G g.12124567T>G ENST00000379388.2 c.4539T>G p.Asn1513Lys missense_variant benign SNU739 Missense Mutation ECT2L chr6 139206960 139206960 T G g.139206960T>G ENST00000367682.2 c.2252T>G p.Ile751Arg missense_variant possibly damaging SNU739 Missense Mutation ADGB chr6 147062397 147062397 C T g.147062397C>T ENST00000397944.3 c.3167C>T p.Thr1056Ile missense_variant probably damaging SNU739 Missense Mutation FNDC1 chr6 159655373 159655373 C A g.159655373C>A ENST00000297267.9 c.3829C>A p.Pro1277Thr missense_variant benign SNU739 Missense Mutation FNDC1 chr6 159655374 159655374 C A g.159655374C>A ENST00000297267.9 c.3830C>A p.Pro1277His missense_variant benign SNU739 Missense Mutation NUP153 chr6 17675843 17675843 G C g.17675843G>C ENST00000262077.2 c.493C>G p.Leu165Val missense_variant possibly damaging SNU739 Missense Mutation E2F3 chr6 20402644 20402644 C A g.20402644C>A ENST00000346618.3 c.181C>A p.Leu61Ile missense_variant benign SNU739 Missense Mutation ZSCAN31 chr6 28294073 28294073 G A g.28294073G>A ENST00000344279.6 c.1091C>T p.Ala364Val missense_variant possibly damaging SNU739 Missense Mutation SFTA2 chr6 30899276 30899276 A T g.30899276A>T ENST00000359086.3 c.226T>A p.Cys76Ser missense_variant probably damaging SNU739 Missense Mutation UNC5CL chr6 41000676 41000676 T A g.41000676T>A ENST00000244565.3 c.896A>T p.Asp299Val missense_variant benign SNU739 Missense Mutation NFYA chr6 41062230 41062230 T G g.41062230T>G ENST00000341376.6 c.984T>G p.His328Gln missense_variant benign SNU739 Missense Mutation GLYATL3 chr6 49494304 49494304 G T g.49494304G>T ENST00000371197.4 c.544G>T p.Ala182Ser missense_variant benign SNU739 Missense Mutation BAI3 chr6 69666660 69666660 C T g.69666660C>T ENST00000370598.1 c.1484C>T p.Thr495Met missense_variant probably damaging SNU739 Missense Mutation DSP chr6 7584294 7584294 A T g.7584294A>T ENST00000379802.3 c.6799A>T p.Thr2267Ser missense_variant benign SNU739 Missense Mutation MYO6 chr6 76624706 76624706 A G g.76624706A>G ENST00000369977.3 c.3835A>G p.Met1279Val missense_variant probably damaging SNU739 Missense Mutation SNAP91 chr6 84320394 84320394 G T g.84320394G>T ENST00000195649.6 c.887C>A p.Ser296Tyr (Splice) missense_variant,splice_region_variant probably damaging SNU739 Missense Mutation MUC17 chr7 100680243 100680243 C T g.100680243C>T ENST00000306151.4 c.5546C>T p.Pro1849Leu missense_variant possibly damaging SNU739 Missense Mutation MUC17 chr7 100680251 100680251 G A g.100680251G>A ENST00000306151.4 c.5554G>A p.Ala1852Thr missense_variant benign SNU739 Missense Mutation MUC17 chr7 100680354 100680354 C G g.100680354C>G ENST00000306151.4 c.5657C>G p.Thr1886Ser missense_variant possibly damaging SNU739 Missense Mutation SLC26A5 chr7 103050840 103050840 C T g.103050840C>T ENST00000306312.3 c.727G>A p.Val243Met missense_variant possibly damaging SNU739 Missense Mutation LAMB1 chr7 107580491 107580491 G A g.107580491G>A ENST00000222399.6 c.3704C>T p.Ala1235Val missense_variant benign SNU739 Missense Mutation SND1 chr7 127484381 127484381 A G g.127484381A>G ENST00000354725.3 c.1247A>G p.Asn416Ser missense_variant benign SNU739 Missense Mutation TNPO3 chr7 128607370 128607370 T C g.128607370T>C ENST00000265388.5 c.2675A>G p.His892Arg missense_variant possibly damaging SNU739 Missense Mutation GIMAP8 chr7 150163944 150163944 G T g.150163944G>T ENST00000307271.3 c.158G>T p.Ser53Ile missense_variant probably damaging SNU739 Missense Mutation FAM20C chr7 195601 195601 C T g.195601C>T ENST00000313766.5 c.653C>T p.Ala218Val missense_variant benign SNU739 Missense Mutation NOD1 chr7 30494807 30494807 C T g.30494807C>T ENST00000222823.4 c.322G>A p.Gly108Ser missense_variant possibly damaging SNU739 Missense Mutation SDK1 chr7 3861171 3861171 A T g.3861171A>T ENST00000389531.3 c.803A>T p.Asn268Ile missense_variant probably damaging SNU739 Missense Mutation CDK13 chr7 40027618 40027618 G T g.40027618G>T ENST00000181839.4 c.1632G>T p.Gln544His missense_variant probably damaging SNU739 Missense Mutation ABCA13 chr7 48335451 48335451 A G g.48335451A>G ENST00000435803.1 c.9110A>G p.His3037Arg missense_variant benign SNU739 Missense Mutation CROT chr7 87004986 87004986 C T g.87004986C>T ENST00000331536.3 c.695C>T p.Pro232Leu missense_variant possibly damaging SNU739 Missense Mutation PPP1R9A chr7 94832992 94832992 T A g.94832992T>A ENST00000433360.1 c.1906T>A p.Leu636Met missense_variant benign SNU739 Missense Mutation TRRAP chr7 98527767 98527767 G T g.98527767G>T ENST00000355540.3 c.3331G>T p.Gly1111Trp missense_variant probably damaging SNU739 Missense Mutation MYOM2 chr8 2092722 2092722 C G g.2092722C>G ENST00000262113.4 c.4215C>G p.Ile1405Met missense_variant probably damaging SNU739 Missense Mutation DMTN chr8 21927716 21927716 A G g.21927716A>G ENST00000265800.5 c.475A>G p.Thr159Ala missense_variant benign SNU739 Missense Mutation CDCA2 chr8 25364619 25364619 A G g.25364619A>G ENST00000330560.3 c.2437A>G p.Arg813Gly missense_variant possibly damaging SNU739 Missense Mutation NUGGC chr8 27880851 27880851 G T g.27880851G>T ENST00000341513.6 c.2374C>A p.Pro792Thr missense_variant benign SNU739 Missense Mutation FUT10 chr8 33247134 33247134 C G g.33247134C>G ENST00000327671.5 c.559G>C p.Glu187Gln missense_variant probably damaging SNU739 Missense Mutation IKBKB chr8 42176132 42176132 C T g.42176132C>T ENST00000520655.1 c.1303C>T p.His435Tyr missense_variant,NMD_transcript_variant benign SNU739 Missense Mutation TGS1 chr8 56715081 56715081 G A g.56715081G>A ENST00000260129.5 c.1915G>A p.Ala639Thr missense_variant possibly damaging SNU739 Missense Mutation ZFHX4 chr8 77616799 77616799 A G g.77616799A>G ENST00000050961.6 c.476A>G p.Lys159Arg missense_variant benign SNU739 Missense Mutation SGK223 chr8 8176424 8176424 C T g.8176424C>T ENST00000330777.4 c.3461G>A p.Cys1154Tyr missense_variant probably damaging SNU739 Missense Mutation CDK5RAP2 chr9 123232456 123232456 C T g.123232456C>T ENST00000349780.4 c.1901G>A p.Ser634Asn missense_variant probably damaging SNU739 Missense Mutation RC3H2 chr9 125616279 125616279 G T g.125616279G>T ENST00000357244.2 c.3069C>A p.His1023Gln missense_variant benign SNU739 Missense Mutation CER1 chr9 14722295 14722295 G C g.14722295G>C ENST00000380911.3 c.376C>G p.Leu126Val missense_variant benign SNU739 Missense Mutation ADAMTSL1 chr9 18706866 18706866 G A g.18706866G>A ENST00000276935.6 c.1696G>A p.Glu566Lys missense_variant probably damaging SNU739 Missense Mutation FOCAD chr9 20881917 20881917 A T g.20881917A>T ENST00000338382.6 c.2365A>T p.Met789Leu missense_variant possibly damaging SNU739 Missense Mutation TAF1L chr9 32633525 32633525 G A g.32633525G>A ENST00000242310.4 c.2053C>T p.Arg685Cys missense_variant probably damaging SNU739 Missense Mutation FAM205A chr9 34724230 34724230 T C g.34724230T>C ENST00000378788.3 c.3007A>G p.Thr1003Ala missense_variant benign SNU739 Missense Mutation TLN1 chr9 35711653 35711653 C A g.35711653C>A ENST00000314888.9 c.3818G>T p.Arg1273Leu missense_variant benign SNU739 Missense Mutation RLN1 chr9 5339633 5339633 T A g.5339633T>A ENST00000223858.4 c.114A>T p.Glu38Asp missense_variant benign SNU739 Missense Mutation WNK2 chr9 96055449 96055449 G A g.96055449G>A ENST00000395477.2 c.5702G>A p.Arg1901Gln missense_variant probably damaging SNU739 Missense Mutation ZNF169 chr9 97063374 97063374 G A g.97063374G>A ENST00000395395.2 c.1534G>A p.Glu512Lys missense_variant benign SNU739 Missense Mutation IDS chrX 148586571 148586571 T A g.148586571T>A ENST00000340855.6 c.97A>T p.Thr33Ser missense_variant benign SNU739 Missense Mutation OPHN1 chrX 67421477 67421477 T C g.67421477T>C ENST00000355520.5 c.1009A>G p.Ile337Val missense_variant benign SNU761 Missense Mutation DENND2D chr1 111740585 111740585 T C g.111740585T>C ENST00000357640.4 c.383A>G p.Asn128Ser missense_variant probably damaging SNU761 Missense Mutation DENND2C chr1 115168586 115168586 C T g.115168586C>T ENST00000393274.1 c.20G>A p.Arg7His missense_variant probably damaging SNU761 Missense Mutation VPS13D chr1 12333136 12333136 A G g.12333136A>G ENST00000356315.4 c.2180A>G p.Lys727Arg missense_variant possibly damaging SNU761 Missense Mutation FLG chr1 152282956 152282956 C T g.152282956C>T ENST00000368799.1 c.4406G>A p.Arg1469His missense_variant benign SNU761 Missense Mutation NUP210L chr1 153974300 153974300 T C g.153974300T>C ENST00000368559.3 c.5092A>G p.Ile1698Val missense_variant benign SNU761 Missense Mutation DAP3 chr1 155695231 155695231 A G g.155695231A>G ENST00000343043.3 c.329A>G p.His110Arg missense_variant benign SNU761 Missense Mutation CELA2B chr1 15813785 15813785 C G g.15813785C>G ENST00000375910.3 c.645C>G p.Asp215Glu missense_variant probably damaging SNU761 Missense Mutation ADCY10 chr1 167817638 167817638 C T g.167817638C>T ENST00000367851.4 c.2398G>A p.Val800Ile missense_variant probably damaging SNU761 Missense Mutation LAMC1 chr1 183106855 183106855 G A g.183106855G>A ENST00000258341.4 c.4366G>A p.Asp1456Asn missense_variant benign SNU761 Missense Mutation ZNF281 chr1 200376462 200376462 T C g.200376462T>C ENST00000294740.3 c.2372A>G p.Gln791Arg missense_variant benign SNU761 Missense Mutation CSRP1 chr1 201459355 201459355 G A g.201459355G>A ENST00000340006.2 c.230C>T p.Ala77Val missense_variant probably damaging SNU761 Missense Mutation LGR6 chr1 202183337 202183337 G T g.202183337G>T ENST00000439764.2 c.55G>T p.Ala19Ser missense_variant benign SNU761 Missense Mutation FCAMR chr1 207131914 207131914 A T g.207131914A>T ENST00000324852.4 c.1681T>A p.Ser561Thr missense_variant possibly damaging SNU761 Missense Mutation ANGEL2 chr1 213186671 213186671 T C g.213186671T>C ENST00000366962.3 c.149A>G p.His50Arg missense_variant possibly damaging SNU761 Missense Mutation RAB3GAP2 chr1 220445634 220445634 C T g.220445634C>T ENST00000358951.2 c.46G>A p.Ala16Thr missense_variant benign SNU761 Missense Mutation C1orf65 chr1 223568031 223568031 G T g.223568031G>T ENST00000366875.3 c.1214G>T p.Cys405Phe missense_variant probably damaging SNU761 Missense Mutation TRIM17 chr1 228602394 228602394 T A g.228602394T>A ENST00000295033.3 c.380A>T p.His127Leu missense_variant probably damaging SNU761 Missense Mutation URB2 chr1 229770731 229770731 G A g.229770731G>A ENST00000258243.2 c.371G>A p.Arg124Gln missense_variant benign SNU761 Missense Mutation GNPAT chr1 231401825 231401825 A G g.231401825A>G ENST00000366647.4 c.838A>G p.Ile280Val missense_variant benign SNU761 Missense Mutation ASAP3 chr1 23759933 23759933 C A g.23759933C>A ENST00000336689.3 c.2112G>T p.Glu704Asp missense_variant benign SNU761 Missense Mutation FUCA1 chr1 24172602 24172602 A C g.24172602A>C ENST00000374479.3 c.1222T>G p.Leu408Val missense_variant benign SNU761 Missense Mutation PLCH2 chr1 2435812 2435812 T G g.2435812T>G ENST00000378486.3 c.3411T>G p.Cys1137Trp missense_variant benign SNU761 Missense Mutation ARID1A chr1 27099311 27099311 A G g.27099311A>G ENST00000324856.7 c.3548A>G p.Asn1183Ser missense_variant benign SNU761 Missense Mutation PTPRU chr1 29631305 29631305 A G g.29631305A>G ENST00000345512.3 c.2717A>G p.Asp906Gly missense_variant probably damaging SNU761 Missense Mutation HMGB4 chr1 34330154 34330154 T C g.34330154T>C ENST00000519684.1 c.362T>C p.Val121Ala missense_variant benign SNU761 Missense Mutation C1orf94 chr1 34663276 34663276 G T g.34663276G>T ENST00000488417.1 c.771G>T p.Lys257Asn missense_variant possibly damaging SNU761 Missense Mutation GJB5 chr1 35223352 35223352 G A g.35223352G>A ENST00000338513.1 c.421G>A p.Val141Met missense_variant possibly damaging SNU761 Missense Mutation CEP104 chr1 3765187 3765187 C T g.3765187C>T ENST00000378223.3 c.272G>A p.Arg91Gln missense_variant probably damaging SNU761 Missense Mutation GLIS1 chr1 53972347 53972347 T C g.53972347T>C ENST00000312233.2 c.1808A>G p.Asn603Ser missense_variant probably damaging SNU761 Missense Mutation CYB5RL chr1 54653339 54653339 C T g.54653339C>T ENST00000287899.8 c.421G>A p.Glu141Lys missense_variant benign SNU761 Missense Mutation FAM151A chr1 55078186 55078186 A G g.55078186A>G ENST00000302250.2 c.773T>C p.Phe258Ser missense_variant benign SNU761 Missense Mutation C1orf177 chr1 55273356 55273356 G A g.55273356G>A ENST00000358193.3 c.350G>A p.Arg117Gln missense_variant benign SNU761 Missense Mutation ST6GALNAC5 chr1 77528856 77528856 G T g.77528856G>T ENST00000477717.1 c.976G>T p.Ala326Ser missense_variant benign SNU761 Missense Mutation SEC31B chr10 102269198 102269198 C T g.102269198C>T ENST00000370329.5 c.274G>A p.Gly92Arg missense_variant probably damaging SNU761 Missense Mutation LZTS2 chr10 102763652 102763652 C T g.102763652C>T ENST00000370220.1 c.797C>T p.Thr266Ile missense_variant benign SNU761 Missense Mutation GSTO1 chr10 106022809 106022809 C T g.106022809C>T ENST00000369713.5 c.439C>T p.Arg147Cys missense_variant benign SNU761 Missense Mutation HABP2 chr10 115337823 115337823 G A g.115337823G>A ENST00000351270.3 c.487G>A p.Ala163Thr missense_variant benign SNU761 Missense Mutation VWA2 chr10 116045974 116045974 C T g.116045974C>T ENST00000392982.3 c.1274C>T p.A425V missense_variant probably damaging SNU761 Missense Mutation PDZD8 chr10 119043567 119043567 C T g.119043567C>T ENST00000334464.5 c.2677G>A p.Ala893Thr missense_variant probably damaging SNU761 Missense Mutation INPP5F chr10 121586630 121586630 A G g.121586630A>G ENST00000361976.2 c.2737A>G p.Ser913Gly missense_variant benign SNU761 Missense Mutation C10orf90 chr10 128193138 128193138 C T g.128193138C>T ENST00000284694.7 c.631G>A p.Glu211Lys missense_variant probably damaging SNU761 Missense Mutation MALRD1 chr10 19780533 19780533 A G g.19780533A>G NM_001142308.2 c.5117A>G p.Tyr1706Cys missense_variant NA SNU761 Missense Mutation ARMC4 chr10 28260161 28260161 G A g.28260161G>A ENST00000305242.5 c.1018C>T p.Arg340Cys missense_variant benign SNU761 Missense Mutation SYT15 chr10 46965752 46965752 C T g.46965752C>T ENST00000374321.4 c.785G>A p.Arg262His missense_variant benign SNU761 Missense Mutation RBP3 chr10 48388558 48388558 C T g.48388558C>T ENST00000224600.4 c.2320G>A p.Asp774Asn missense_variant benign SNU761 Missense Mutation NRG3 chr10 83635650 83635650 G A g.83635650G>A ENST00000372141.2 c.554G>A p.Arg185Gln missense_variant probably damaging SNU761 Missense Mutation CDHR1 chr10 85954560 85954560 G T g.85954560G>T ENST00000332904.3 c.44G>T p.Arg15Leu missense_variant benign SNU761 Missense Mutation PLCE1 chr10 95791396 95791396 C T g.95791396C>T ENST00000260766.3 c.593C>T p.Ser198Leu missense_variant benign SNU761 Missense Mutation BLNK chr10 97987252 97987252 G T g.97987252G>T ENST00000224337.5 c.275C>A p.Ala92Asp missense_variant benign SNU761 Missense Mutation SLIT1 chr10 98799815 98799815 T C g.98799815T>C ENST00000266058.4 c.2227A>G p.Thr743Ala missense_variant benign SNU761 Missense Mutation BUD13 chr11 116633611 116633611 G A g.116633611G>A ENST00000260210.4 c.694C>T p.Arg232Cys missense_variant possibly damaging SNU761 Missense Mutation ZNF195 chr11 3383019 3383019 G C g.3383019G>C ENST00000005082.9 c.327C>G p.Asn109Lys missense_variant benign SNU761 Missense Mutation LMO2 chr11 33886338 33886338 T C g.33886338T>C ENST00000395833.3 c.67A>G p.Ile23Val missense_variant benign SNU761 Missense Mutation CD44 chr11 35198202 35198202 G A g.35198202G>A ENST00000263398.6 c.148G>A p.Ala50Thr missense_variant probably damaging SNU761 Missense Mutation ANO9 chr11 432040 432040 A G g.432040A>G ENST00000332826.6 c.365T>C p.Ile122Thr missense_variant probably damaging SNU761 Missense Mutation TTC17 chr11 43418308 43418308 T C g.43418308T>C ENST00000039989.4 c.713T>C p.Ile238Thr missense_variant possibly damaging SNU761 Missense Mutation OR51F2 chr11 4843405 4843405 A G g.4843405A>G ENST00000322110.5 c.790A>G p.Ile264Val missense_variant benign SNU761 Missense Mutation LRRC56 chr11 540709 540709 C A g.540709C>A ENST00000270115.7 c.25C>A p.Arg9Ser missense_variant benign SNU761 Missense Mutation OR52N4 chr11 5776143 5776143 A G g.5776143A>G ENST00000317254.3 c.173A>G p.His58Arg missense_variant probably damaging SNU761 Missense Mutation ATG2A chr11 64684484 64684484 G C g.64684484G>C ENST00000377264.3 c.124C>G p.Leu42Val missense_variant probably damaging SNU761 Missense Mutation RBM14 chr11 66384499 66384499 G A g.66384499G>A ENST00000310137.4 c.308G>A p.Gly103Glu missense_variant probably damaging SNU761 Missense Mutation C11orf86 chr11 66743024 66743024 G A g.66743024G>A ENST00000308963.4 c.191G>A p.Arg64Gln missense_variant benign SNU761 Missense Mutation CTTN chr11 70255953 70255953 G C g.70255953G>C ENST00000301843.8 c.178G>C p.Glu60Gln missense_variant benign SNU761 Missense Mutation SCYL2 chr12 100706346 100706346 T C g.100706346T>C ENST00000360820.2 c.767T>C p.Met256Thr missense_variant benign SNU761 Missense Mutation STAB2 chr12 104067696 104067696 G A g.104067696G>A ENST00000388887.2 c.2383G>A p.Val795Ile missense_variant benign SNU761 Missense Mutation NOS1 chr12 117681167 117681167 T A g.117681167T>A ENST00000338101.4 c.2999A>T p.Asp1000Val missense_variant probably damaging SNU761 Missense Mutation VSIG10 chr12 118509220 118509220 C A g.118509220C>A ENST00000359236.5 c.1274G>T p.Gly425Val missense_variant benign SNU761 Missense Mutation CCDC60 chr12 119954463 119954463 G A g.119954463G>A ENST00000327554.2 c.919G>A p.Ala307Thr missense_variant probably damaging SNU761 Missense Mutation GCN1L1 chr12 120565693 120565693 G A g.120565693G>A ENST00000300648.6 c.7976C>T p.Ala2659Val missense_variant benign SNU761 Missense Mutation GCN1L1 chr12 120575417 120575417 G A g.120575417G>A ENST00000300648.6 c.6595C>T p.Arg2199Cys missense_variant probably damaging SNU761 Missense Mutation OASL chr12 121458854 121458854 C T g.121458854C>T ENST00000257570.5 c.1055G>A p.Arg352Gln missense_variant possibly damaging SNU761 Missense Mutation GLT1D1 chr12 129360521 129360521 G C g.129360521G>C ENST00000281703.6 c.131G>C p.Arg44Pro missense_variant benign SNU761 Missense Mutation KIAA1467 chr12 13215809 13215809 A G g.13215809A>G ENST00000197268.8 c.752A>G p.Tyr251Cys missense_variant possibly damaging SNU761 Missense Mutation ZNF605 chr12 133502716 133502716 T G g.133502716T>G ENST00000360187.4 c.1169A>C p.Glu390Ala missense_variant benign SNU761 Missense Mutation LRMP chr12 25236406 25236406 G C g.25236406G>C ENST00000354454.3 c.294G>C p.Lys98Asn missense_variant benign SNU761 Missense Mutation MANSC4 chr12 27915756 27915756 T C g.27915756T>C ENST00000381273.3 c.938A>G p.Gln313Arg missense_variant benign SNU761 Missense Mutation FOXM1 chr12 2981323 2981323 C T g.2981323C>T ENST00000342628.2 c.593G>A p.Arg198His missense_variant benign SNU761 Missense Mutation NELL2 chr12 45173504 45173504 A C g.45173504A>C ENST00000429094.2 c.548T>G p.Leu183Trp missense_variant probably damaging SNU761 Missense Mutation LARP4 chr12 50869620 50869620 A C g.50869620A>C ENST00000398473.2 c.2148A>C p.Gln716His missense_variant probably damaging SNU761 Missense Mutation CSRNP2 chr12 51458430 51458430 C T g.51458430C>T ENST00000228515.1 c.731G>A p.Cys244Tyr missense_variant probably damaging SNU761 Missense Mutation PAN2 chr12 56717153 56717153 C A g.56717153C>A ENST00000425394.2 c.2299G>T p.Ala767Ser missense_variant benign SNU761 Missense Mutation HSD17B6 chr12 57167791 57167791 G A g.57167791G>A ENST00000322165.1 c.155G>A p.Arg52Gln missense_variant benign SNU761 Missense Mutation GRIP1 chr12 66786126 66786126 C A g.66786126C>A ENST00000398016.3 c.2270G>T p.Trp757Leu missense_variant possibly damaging SNU761 Missense Mutation NAV3 chr12 78362359 78362359 A G g.78362359A>G ENST00000228327.6 c.548A>G p.Lys183Arg missense_variant probably damaging SNU761 Missense Mutation PCDH8 chr13 53422174 53422174 G A g.53422174G>A ENST00000338862.4 c.398C>T p.Pro133Leu missense_variant probably damaging SNU761 Missense Mutation EVL chr14 100602267 100602267 C T g.100602267C>T ENST00000392920.3 c.926C>T p.Pro309Leu missense_variant possibly damaging SNU761 Missense Mutation TDRD9 chr14 104429449 104429449 T A g.104429449T>A ENST00000339063.5 c.356T>A p.Val119Glu missense_variant benign SNU761 Missense Mutation CEP170B chr14 105359878 105359878 G A g.105359878G>A ENST00000414716.3 c.4057G>A p.Glu1353Lys missense_variant probably damaging SNU761 Missense Mutation C14orf80 chr14 105964991 105964991 C T g.105964991C>T ENST00000392523.4 c.1196C>T p.Ala399Val missense_variant benign SNU761 Missense Mutation ANG chr14 21161857 21161857 G A g.21161857G>A ENST00000336811.6 c.134G>A p.Arg45Gln missense_variant probably damaging SNU761 Missense Mutation L2HGDH chr14 50778861 50778861 G A g.50778861G>A ENST00000261699.4 c.8C>T p.Pro3Leu missense_variant benign SNU761 Missense Mutation DACT1 chr14 59113526 59113526 G C g.59113526G>C ENST00000335867.4 c.2185G>C p.Glu729Gln missense_variant probably damaging SNU761 Missense Mutation SYNE2 chr14 64490993 64490993 G A g.64490993G>A ENST00000344113.4 c.5656G>A p.Gly1886Arg missense_variant possibly damaging SNU761 Missense Mutation SYNE2 chr14 64588746 64588746 C T g.64588746C>T ENST00000344113.4 c.13175C>T p.Pro4392Leu missense_variant benign SNU761 Missense Mutation PLEKHH1 chr14 68040990 68040990 C T g.68040990C>T ENST00000329153.5 c.1958C>T p.Thr653Met missense_variant benign SNU761 Missense Mutation PLEKHH1 chr14 68047742 68047742 A G g.68047742A>G ENST00000329153.5 c.3271A>G p.Met1091Val missense_variant benign SNU761 Missense Mutation EML5 chr14 89131795 89131795 A C g.89131795A>C ENST00000380664.5 c.3163T>G p.Leu1055Val missense_variant possibly damaging SNU761 Missense Mutation CCDC88C chr14 91779828 91779828 T C g.91779828T>C ENST00000389857.6 c.2332A>G p.Ser778Gly missense_variant benign SNU761 Missense Mutation SETD3 chr14 99929885 99929885 T C g.99929885T>C ENST00000329331.3 c.134A>G p.Lys45Arg missense_variant benign SNU761 Missense Mutation GABRG3 chr15 27765135 27765135 A G g.27765135A>G ENST00000333743.6 c.730A>G p.Thr244Ala missense_variant benign SNU761 Missense Mutation ARHGAP11A chr15 32928868 32928868 C G g.32928868C>G ENST00000361627.3 c.1894C>G p.Pro632Ala missense_variant benign SNU761 Missense Mutation FMN1 chr15 33191048 33191048 C T g.33191048C>T ENST00000559047.1 c.3701G>A p.Arg1234His missense_variant possibly damaging SNU761 Missense Mutation VPS18 chr15 41192719 41192719 G T g.41192719G>T ENST00000220509.5 c.1703G>T p.Arg568Leu missense_variant possibly damaging SNU761 Missense Mutation MAP1A chr15 43814186 43814186 A G g.43814186A>G ENST00000300231.5 c.515A>G p.Gln172Arg missense_variant probably damaging SNU761 Missense Mutation EID1 chr15 49170504 49170504 C T g.49170504C>T ENST00000530028.2 c.131C>T p.Pro44Leu missense_variant benign SNU761 Missense Mutation AP4E1 chr15 51217326 51217326 G A g.51217326G>A ENST00000261842.5 c.452G>A p.Cys151Tyr missense_variant probably damaging SNU761 Missense Mutation DENND4A chr15 65983475 65983475 T G g.65983475T>G ENST00000431932.2 c.3325A>C p.Asn1109His missense_variant benign SNU761 Missense Mutation ARNT2 chr15 80806275 80806275 A G g.80806275A>G ENST00000303329.4 c.749A>G p.His250Arg missense_variant benign SNU761 Missense Mutation CLEC16A chr16 11260320 11260320 G A g.11260320G>A ENST00000409790.1 c.2717G>A p.Gly906Glu missense_variant probably damaging SNU761 Missense Mutation ABCC6 chr16 16267197 16267197 C A g.16267197C>A ENST00000205557.7 c.2731G>T p.Asp911Tyr missense_variant possibly damaging SNU761 Missense Mutation DNAH3 chr16 21080809 21080809 A G g.21080809A>G ENST00000261383.3 c.3308T>C p.Ile1103Thr missense_variant benign SNU761 Missense Mutation E4F1 chr16 2283571 2283571 G A g.2283571G>A ENST00000301727.4 c.1189G>A p.Ala397Thr missense_variant benign SNU761 Missense Mutation TNRC6A chr16 24802206 24802206 A T g.24802206A>T ENST00000315183.7 c.2243A>T p.Asn748Ile missense_variant probably damaging SNU761 Missense Mutation SULT1A2 chr16 28603433 28603433 G T g.28603433G>T ENST00000335715.4 c.804C>A p.Phe268Leu missense_variant probably damaging SNU761 Missense Mutation ORAI3 chr16 30964860 30964860 G A g.30964860G>A ENST00000318663.4 c.583G>A p.Gly195Arg missense_variant benign SNU761 Missense Mutation ORAI3 chr16 30965064 30965064 G C g.30965064G>C ENST00000318663.4 c.787G>C p.Ala263Pro missense_variant probably damaging SNU761 Missense Mutation SETD1A chr16 30976166 30976166 C T g.30976166C>T ENST00000262519.8 c.1103C>T p.Ala368Val missense_variant possibly damaging SNU761 Missense Mutation ZNF646 chr16 31092642 31092642 C T g.31092642C>T ENST00000300850.5 c.4997C>T p.Thr1666Met missense_variant benign SNU761 Missense Mutation NAGPA chr16 5078047 5078047 C T g.5078047C>T ENST00000312251.3 c.1060G>A p.Gly354Ser missense_variant probably damaging SNU761 Missense Mutation BBS2 chr16 56533731 56533731 T C g.56533731T>C ENST00000245157.5 c.1486A>G p.Ile496Val missense_variant benign SNU761 Missense Mutation CNGB1 chr16 58001052 58001052 C T g.58001052C>T ENST00000251102.8 c.139G>A p.Glu47Lys missense_variant benign SNU761 Missense Mutation PLEKHG4 chr16 67322419 67322419 A G g.67322419A>G ENST00000360461.5 c.3482A>G p.Gln1161Arg missense_variant possibly damaging SNU761 Missense Mutation RLTPR chr16 67680362 67680362 G A g.67680362G>A ENST00000334583.6 c.408G>A p.Met136Ile missense_variant benign SNU761 Missense Mutation PDPR chr16 70190676 70190676 C T g.70190676C>T ENST00000288050.4 c.2534C>T p.Ala845Val missense_variant probably damaging SNU761 Missense Mutation AARS chr16 70298882 70298882 A C g.70298882A>C ENST00000261772.8 c.1471T>G p.Leu491Val missense_variant benign SNU761 Missense Mutation CTRB1 chr16 75258761 75258761 C A g.75258761C>A ENST00000361017.4 c.789C>A p.Asn263Lys missense_variant possibly damaging SNU761 Missense Mutation ADAMTS18 chr16 77328955 77328955 C G g.77328955C>G ENST00000282849.5 c.2871G>C p.Gln957His missense_variant benign SNU761 Missense Mutation NARFL chr16 784860 784860 C T g.784860C>T ENST00000251588.2 c.451G>A p.Val151Ile missense_variant probably damaging SNU761 Missense Mutation CDYL2 chr16 80718553 80718553 A T g.80718553A>T ENST00000562812.1 c.498T>A p.Asp166Glu missense_variant benign SNU761 Missense Mutation ZFPM1 chr16 88600124 88600124 C A g.88600124C>A ENST00000319555.3 c.1758C>A p.Phe586Leu missense_variant probably damaging SNU761 Missense Mutation PIEZO1 chr16 88787652 88787652 G A g.88787652G>A ENST00000301015.9 c.5590C>T p.Arg1864Cys missense_variant probably damaging SNU761 Missense Mutation GAS8 chr16 90106814 90106814 C T g.90106814C>T ENST00000268699.4 c.1118C>T p.Ala373Val missense_variant benign SNU761 Missense Mutation TRPV1 chr17 3475436 3475436 G C g.3475436G>C ENST00000399756.4 c.2211C>G p.Asp737Glu missense_variant benign SNU761 Missense Mutation TADA2A chr17 35836990 35836990 G A g.35836990G>A ENST00000225396.6 c.1235G>A p.Arg412Lys missense_variant possibly damaging SNU761 Missense Mutation SUPT20HL1 chrX 24381727 24381727 G A g.24381727G>A NM_001136234.1 c.850G>A p.Ala284Thr missense_variant benign SNU761 Missense Mutation GFAP chr17 42991169 42991169 G T g.42991169G>T ENST00000253408.5 c.545C>A p.Ala182Asp missense_variant probably damaging SNU761 Missense Mutation PELP1 chr17 4577954 4577954 G A g.4577954G>A ENST00000574876.1 c.1433C>T p.Pro478Leu missense_variant possibly damaging SNU761 Missense Mutation DDX5 chr17 62496134 62496134 C T g.62496134C>T ENST00000225792.5 c.1752G>A p.Met584Ile missense_variant benign SNU761 Missense Mutation AMZ2 chr17 66250649 66250649 A G g.66250649A>G ENST00000359904.3 c.691A>G p.Ile231Val missense_variant benign SNU761 Missense Mutation KRBA2 chr17 8273026 8273026 G A g.8273026G>A ENST00000331336.2 c.905C>T p.Ala302Val missense_variant benign SNU761 Missense Mutation LAMA3 chr18 21293962 21293962 C T g.21293962C>T ENST00000313654.9 c.373C>T p.Arg125Cys missense_variant probably damaging SNU761 Missense Mutation ABCA7 chr19 1051523 1051523 C T g.1051523C>T ENST00000263094.6 c.2900C>T p.Thr967Met missense_variant probably damaging SNU761 Missense Mutation ZNF823 chr19 11833935 11833935 A T g.11833935A>T ENST00000341191.6 c.414T>A p.His138Gln missense_variant probably damaging SNU761 Missense Mutation ZNF440 chr19 11942518 11942518 T C g.11942518T>C ENST00000304060.5 c.527T>C p.Val176Ala missense_variant benign SNU761 Missense Mutation ZNF20 chr19 12244169 12244169 T G g.12244169T>G ENST00000334213.5 c.832A>C p.Thr278Pro missense_variant benign SNU761 Missense Mutation CALR chr19 13054618 13054618 C T g.13054618C>T ENST00000316448.5 c.1145C>T p.Ala382Val missense_variant benign SNU761 Missense Mutation BRD4 chr19 15349564 15349564 C A g.15349564C>A ENST00000263377.2 c.4010G>T p.Arg1337Leu missense_variant probably damaging SNU761 Missense Mutation DOHH chr19 3496716 3496716 C T g.3496716C>T ENST00000250937.3 c.97G>A p.Gly33Arg missense_variant possibly damaging SNU761 Missense Mutation RBM42 chr19 36128252 36128252 A G g.36128252A>G ENST00000262633.4 c.1328A>G p.Asn443Ser (Splice) missense_variant,splice_region_variant benign SNU761 Missense Mutation ZNF283 chr19 44352293 44352293 C A g.44352293C>A ENST00000324461.7 c.1540C>A p.Pro514Thr missense_variant probably damaging SNU761 Missense Mutation ZNF224 chr19 44611829 44611829 C G g.44611829C>G ENST00000336976.6 c.1516C>G p.His506Asp missense_variant probably damaging SNU761 Missense Mutation ZNF234 chr19 44661871 44661871 T A g.44661871T>A ENST00000426739.2 c.1702T>A p.Tyr568Asn missense_variant probably damaging SNU761 Missense Mutation GIPR chr19 46178043 46178043 G T g.46178043G>T ENST00000263281.3 c.592G>T p.Gly198Cys missense_variant probably damaging SNU761 Missense Mutation SYMPK chr19 46347434 46347434 G A g.46347434G>A ENST00000245934.7 c.701C>T p.Ala234Val missense_variant possibly damaging SNU761 Missense Mutation FAM83E chr19 49106812 49106812 C T g.49106812C>T ENST00000263266.3 c.1115G>A p.Arg372His missense_variant probably damaging SNU761 Missense Mutation RASIP1 chr19 49230326 49230326 G A g.49230326G>A ENST00000222145.4 c.1961C>T p.Thr654Met missense_variant possibly damaging SNU761 Missense Mutation GYS1 chr19 49494577 49494577 C T g.49494577C>T ENST00000263276.6 c.282G>A p.Met94Ile missense_variant benign SNU761 Missense Mutation HRC chr19 49657930 49657930 C T g.49657930C>T ENST00000252825.4 c.565G>A p.Asp189Asn missense_variant possibly damaging SNU761 Missense Mutation ZNF765 chr19 53911990 53911990 C G g.53911990C>G ENST00000396408.3 c.1182C>G p.His394Gln missense_variant benign SNU761 Missense Mutation SUV420H2 chr19 55854179 55854179 A T g.55854179A>T ENST00000255613.3 c.346A>T p.Met116Leu missense_variant benign SNU761 Missense Mutation FAM71E2 chr19 55870804 55870804 G A g.55870804G>A ENST00000424985.3 c.1432C>T p.Pro478Ser missense_variant benign SNU761 Missense Mutation SAFB chr19 5641906 5641906 G T g.5641906G>T ENST00000292123.5 c.495G>T p.Glu165Asp missense_variant benign SNU761 Missense Mutation ACSBG2 chr19 6183238 6183238 C T g.6183238C>T ENST00000252669.5 c.1277C>T p.Ser426Leu missense_variant probably damaging SNU761 Missense Mutation FLJ22184 chr19 7937610 7937610 G A g.7937610G>A NM_001190467.1 c.519C>T p.Pro174Ser missense_variant NA SNU761 Missense Mutation RANBP2 chr2 109379889 109379889 A G g.109379889A>G ENST00000283195.6 c.2894A>G p.Asn965Ser missense_variant benign SNU761 Missense Mutation CHCHD5 chr2 113343884 113343884 G A g.113343884G>A ENST00000324913.5 c.251G>A p.Arg84His missense_variant probably damaging SNU761 Missense Mutation UGGT1 chr2 128878811 128878811 C G g.128878811C>G ENST00000259253.6 c.1012C>G p.Pro338Ala missense_variant benign SNU761 Missense Mutation PLA2R1 chr2 160833860 160833860 G C g.160833860G>C ENST00000283243.7 c.2336C>G p.Ala779Gly missense_variant probably damaging SNU761 Missense Mutation FIGN chr2 164467710 164467710 G A g.164467710G>A ENST00000333129.3 c.632C>T p.Pro211Leu missense_variant probably damaging SNU761 Missense Mutation FIGN chr2 164468088 164468088 C A g.164468088C>A ENST00000333129.3 c.254G>T p.Arg85Leu missense_variant probably damaging SNU761 Missense Mutation TTN chr2 179547988 179547988 T A g.179547988T>A ENST00000591111.1 c.31886A>T p.Glu10629Val missense_variant benign SNU761 Missense Mutation ERBB4 chr2 212530154 212530154 A G g.212530154A>G ENST00000342788.4 c.1765T>C p.Cys589Arg missense_variant probably damaging SNU761 Missense Mutation ANKZF1 chr2 220096671 220096671 C T g.220096671C>T ENST00000323348.5 c.170C>T p.Pro57Leu missense_variant benign SNU761 Missense Mutation DOCK10 chr2 225672643 225672643 A C g.225672643A>C ENST00000258390.7 c.3570T>G p.Asp1190Glu missense_variant possibly damaging SNU761 Missense Mutation COL4A4 chr2 227985767 227985767 C T g.227985767C>T ENST00000329662.7 c.290G>A p.Arg97His missense_variant benign SNU761 Missense Mutation MROH2A chr2 234741874 234741874 G C g.234741874G>C NM_001287395.1 c.5036G>C p.Gly1679Ala missense_variant NA SNU761 Missense Mutation COL6A3 chr2 238275918 238275918 C T g.238275918C>T ENST00000295550.4 c.4912G>A p.Ala1638Thr missense_variant probably damaging SNU761 Missense Mutation CLIP4 chr2 29366647 29366647 G A g.29366647G>A ENST00000320081.5 c.721G>A p.Ala241Thr missense_variant probably damaging SNU761 Missense Mutation THADA chr2 43776368 43776368 A T g.43776368A>T ENST00000405006.4 c.3087T>A p.Asp1029Glu missense_variant benign SNU761 Missense Mutation PAPOLG chr2 61022148 61022148 G A g.61022148G>A ENST00000238714.3 c.2105G>A p.Arg702His missense_variant probably damaging SNU761 Missense Mutation PELI1 chr2 64322198 64322198 C T g.64322198C>T ENST00000358912.4 c.895G>A p.Val299Ile missense_variant benign SNU761 Missense Mutation NCAPH chr2 97019101 97019101 A G g.97019101A>G ENST00000240423.4 c.968A>G p.Gln323Arg missense_variant benign SNU761 Missense Mutation KIAA1211L chr2 99438853 99438853 C T g.99438853C>T ENST00000397899.2 c.1883G>A p.Gly628Asp missense_variant benign SNU761 Missense Mutation RAD21L1 chr20 1218808 1218808 A G g.1218808A>G ENST00000381882.2 c.596A>G p.Tyr199Cys missense_variant benign SNU761 Missense Mutation SIRPB1 chr20 1552479 1552479 C T g.1552479C>T ENST00000381605.4 c.638G>A p.R213K missense_variant benign SNU761 Missense Mutation CSRP2BP chr20 18143512 18143512 G A g.18143512G>A ENST00000435364.3 c.1594G>A p.Gly532Arg missense_variant benign SNU761 Missense Mutation ASIP chr20 32856839 32856839 C A g.32856839C>A ENST00000374954.3 c.265C>A p.Leu89Ile missense_variant benign SNU761 Missense Mutation NFS1 chr20 34257566 34257566 C T g.34257566C>T ENST00000374092.4 c.1352G>A p.Ser451Asn missense_variant benign SNU761 Missense Mutation MROH8 chr20 35766222 35766222 G A g.35766222G>A ENST00000400441.3 c.1640C>T p.P547L missense_variant probably damaging SNU761 Missense Mutation RPN2 chr20 35833201 35833201 G A g.35833201G>A ENST00000237530.6 c.587G>A p.Gly196Asp missense_variant benign SNU761 Missense Mutation PLTP chr20 44538242 44538242 C T g.44538242C>T ENST00000372431.3 c.398G>A p.Arg133Gln missense_variant benign SNU761 Missense Mutation SLMO2 chr20 57613669 57613669 G T g.57613669G>T ENST00000355937.4 c.53C>A p.Thr18Lys missense_variant probably damaging SNU761 Missense Mutation URB1 chr21 33709728 33709728 T C g.33709728T>C ENST00000382751.3 c.4606A>G p.Thr1536Ala missense_variant possibly damaging SNU761 Missense Mutation C21orf59 chr21 33974229 33974229 T A g.33974229T>A ENST00000290155.3 c.817A>T p.Thr273Ser missense_variant benign SNU761 Missense Mutation B3GALT5 chr21 41033345 41033345 A G g.41033345A>G ENST00000343118.4 c.859A>G p.Ile287Val missense_variant benign SNU761 Missense Mutation DNMT3L chr21 45666416 45666416 T G g.45666416T>G ENST00000418993.1 c.1025A>C p.Glu342Ala missense_variant benign SNU761 Missense Mutation LRRC3 chr21 45877209 45877209 C T g.45877209C>T ENST00000291592.4 c.682C>T p.His228Tyr missense_variant possibly damaging SNU761 Missense Mutation BCR chr22 23634788 23634788 G A g.23634788G>A ENST00000305877.8 c.2843G>A p.Arg948His missense_variant possibly damaging SNU761 Missense Mutation HPS4 chr22 26859956 26859956 C G g.26859956C>G ENST00000336873.5 c.1640G>C p.Cys547Ser missense_variant benign SNU761 Missense Mutation SLC16A8 chr22 38477347 38477347 G A g.38477347G>A ENST00000320521.5 c.698C>T p.Ser233Phe missense_variant benign SNU761 Missense Mutation BAIAP2L2 chr22 38493118 38493118 A C g.38493118A>C ENST00000332536.5 c.533T>G p.Leu178Trp missense_variant probably damaging SNU761 Missense Mutation EP300 chr22 41536149 41536149 A G g.41536149A>G ENST00000263253.7 c.1766A>G p.Gln589Arg missense_variant probably damaging SNU761 Missense Mutation ALCAM chr3 105266347 105266347 A G g.105266347A>G ENST00000306107.5 c.1354A>G p.Ser452Gly missense_variant benign SNU761 Missense Mutation SLC6A11 chr3 10970982 10970982 T C g.10970982T>C ENST00000254488.2 c.1328T>C p.Leu443Ser missense_variant possibly damaging SNU761 Missense Mutation CD96 chr3 111319627 111319627 A C g.111319627A>C ENST00000283285.5 c.1001A>C p.Lys334Thr missense_variant benign SNU761 Missense Mutation ADPRH chr3 119306579 119306579 G A g.119306579G>A ENST00000357003.3 c.928G>A p.Ala310Thr missense_variant probably damaging SNU761 Missense Mutation STXBP5L chr3 121126167 121126167 T C g.121126167T>C ENST00000273666.6 c.2737T>C p.Tyr913His missense_variant benign SNU761 Missense Mutation KALRN chr3 124390569 124390569 C A g.124390569C>A ENST00000291478.5 c.1672C>A p.Pro558Thr missense_variant benign SNU761 Missense Mutation IFT122 chr3 129223243 129223243 C T g.129223243C>T ENST00000348417.2 c.2629C>T p.Arg877Cys missense_variant probably damaging SNU761 Missense Mutation H1FOO chr3 129266330 129266330 C T g.129266330C>T ENST00000324382.2 c.185C>T p.Ala62Val missense_variant probably damaging SNU761 Missense Mutation DNAJC13 chr3 132179918 132179918 A G g.132179918A>G ENST00000260818.6 c.1582A>G p.Ile528Val missense_variant benign SNU761 Missense Mutation CCDC174 chr3 14712693 14712693 G A g.14712693G>A ENST00000383794.3 c.1396G>A p.Val466Met missense_variant probably damaging SNU761 Missense Mutation C3orf20 chr3 14755588 14755588 A G g.14755588A>G ENST00000253697.3 c.1235A>G p.Asn412Ser missense_variant possibly damaging SNU761 Missense Mutation VEPH1 chr3 157146184 157146184 G A g.157146184G>A ENST00000362010.2 c.623C>T p.Ser208Phe missense_variant possibly damaging SNU761 Missense Mutation SMC4 chr3 160137227 160137227 G C g.160137227G>C ENST00000344722.5 c.1753G>C p.Glu585Gln missense_variant probably damaging SNU761 Missense Mutation GOLIM4 chr3 167754637 167754637 C T g.167754637C>T ENST00000470487.1 c.830G>A p.Arg277Gln missense_variant benign SNU761 Missense Mutation MECOM chr3 168810807 168810807 T A g.168810807T>A ENST00000460814.1 c.2512A>T p.Ile838Phe missense_variant probably damaging SNU761 Missense Mutation GP5 chr3 194118090 194118090 C A g.194118090C>A ENST00000323007.3 c.922G>T p.Ala308Ser missense_variant benign SNU761 Missense Mutation CLASP2 chr3 33580411 33580411 T C g.33580411T>C ENST00000468888.2 c.3452A>G p.Asn1151Ser missense_variant probably damaging SNU761 Missense Mutation LTF chr3 46490388 46490388 G A g.46490388G>A ENST00000231751.4 c.1178C>T p.Ala393Val missense_variant possibly damaging SNU761 Missense Mutation PRSS50 chr3 46755773 46755773 G A g.46755773G>A ENST00000315170.7 c.689C>T p.Thr230Met missense_variant benign SNU761 Missense Mutation COL7A1 chr3 48626351 48626351 C T g.48626351C>T ENST00000328333.8 c.2392G>A p.Gly798Arg missense_variant probably damaging SNU761 Missense Mutation UQCRC1 chr3 48638451 48638451 T C g.48638451T>C ENST00000203407.5 c.923A>G p.Asn308Ser missense_variant benign SNU761 Missense Mutation QARS chr3 49138846 49138846 T C g.49138846T>C ENST00000306125.6 c.818A>G p.Asn273Ser missense_variant probably damaging SNU761 Missense Mutation USP19 chr3 49151514 49151514 C T g.49151514C>T ENST00000398888.2 c.2107G>A p.Val703Ile missense_variant benign SNU761 Missense Mutation MON1A chr3 49949057 49949057 T C g.49949057T>C ENST00000296473.3 c.806A>G p.Tyr269Cys missense_variant probably damaging SNU761 Missense Mutation VPRBP chr3 51452227 51452227 A C g.51452227A>C ENST00000335891.5 c.2341T>G p.F781V missense_variant probably damaging SNU761 Missense Mutation TLR9 chr3 52255406 52255406 G T g.52255406G>T ENST00000360658.2 c.2926C>A p.Arg976Ser missense_variant benign SNU761 Missense Mutation EDEM1 chr3 5252875 5252875 A G g.5252875A>G ENST00000256497.4 c.1654A>G p.Ser552Gly missense_variant possibly damaging SNU761 Missense Mutation ACTR8 chr3 53911271 53911271 T G g.53911271T>G ENST00000335754.3 c.654A>C p.Lys218Asn missense_variant benign SNU761 Missense Mutation ARL6IP5 chr3 69134262 69134262 G A g.69134262G>A ENST00000273258.3 c.64G>A p.Ala22Thr missense_variant probably damaging SNU761 Missense Mutation OR5H6 chr3 97983176 97983176 G C g.97983176G>C ENST00000383696.2 c.48G>C p.Glu16Asp missense_variant benign SNU761 Missense Mutation ANK2 chr4 114186063 114186063 C T g.114186063C>T ENST00000264366.6 c.1397C>T p.Thr466Met missense_variant probably damaging SNU761 Missense Mutation UCP1 chr4 141484292 141484292 C A g.141484292C>A ENST00000262999.3 c.600G>T p.Glu200Asp missense_variant benign SNU761 Missense Mutation MARCH1 chr4 164449923 164449923 G A g.164449923G>A ENST00000274056.7 c.847C>T p.Pro283Ser missense_variant benign SNU761 Missense Mutation NCAPG chr4 17835940 17835940 G A g.17835940G>A ENST00000251496.2 c.1903G>A p.Val635Ile missense_variant benign SNU761 Missense Mutation APBB2 chr4 40827939 40827939 T C g.40827939T>C ENST00000295974.8 c.1778A>G p.Gln593Arg missense_variant probably damaging SNU761 Missense Mutation DCUN1D4 chr4 52779534 52779534 A G g.52779534A>G ENST00000334635.5 c.799A>G p.Ser267Gly missense_variant probably damaging SNU761 Missense Mutation UBA6 chr4 68488903 68488903 C T g.68488903C>T ENST00000322244.5 c.2878G>A p.Val960Ile missense_variant benign SNU761 Missense Mutation GC chr4 72635114 72635114 C T g.72635114C>T ENST00000273951.8 c.62G>A p.Arg21Gln missense_variant probably damaging SNU761 Missense Mutation FAM13A chr4 89652548 89652548 T C g.89652548T>C ENST00000264344.5 c.2875A>G p.Arg959Gly missense_variant probably damaging SNU761 Missense Mutation SLC2A9 chr4 9922076 9922076 T C g.9922076T>C ENST00000264784.3 c.935A>G p.Tyr312Cys missense_variant benign SNU761 Missense Mutation PCDHA9 chr5 140228309 140228309 G C g.140228309G>C ENST00000378122.3 c.229G>C p.Val77Leu missense_variant benign SNU761 Missense Mutation PCDHGC4 chr5 140864858 140864858 C A g.140864858C>A ENST00000306593.1 c.118C>A p.Gln40Lys missense_variant benign SNU761 Missense Mutation RBM27 chr5 145598554 145598554 T A g.145598554T>A ENST00000265271.5 c.66T>A p.Asp22Glu missense_variant probably damaging SNU761 Missense Mutation TCOF1 chr5 149748382 149748382 C T g.149748382C>T ENST00000323668.7 c.482C>T p.Ala161Val missense_variant probably damaging SNU761 Missense Mutation PRLR chr5 35065667 35065667 T C g.35065667T>C ENST00000382002.5 c.1393A>G p.Ile465Val missense_variant benign SNU761 Missense Mutation NDUFAF2 chr5 60448540 60448540 A C g.60448540A>C ENST00000296597.5 c.268A>C p.Lys90Gln missense_variant benign SNU761 Missense Mutation FAM169A chr5 74077550 74077550 G T g.74077550G>T ENST00000389156.4 c.1748C>A p.Ser583Tyr missense_variant probably damaging SNU761 Missense Mutation CMYA5 chr5 79032426 79032426 A T g.79032426A>T ENST00000446378.2 c.7838A>T p.Lys2613Met missense_variant probably damaging SNU761 Missense Mutation SOBP chr6 107954888 107954888 C A g.107954888C>A ENST00000317357.5 c.840C>A p.His280Gln missense_variant probably damaging SNU761 Missense Mutation COL10A1 chr6 116442098 116442098 G C g.116442098G>C ENST00000243222.4 c.1181C>G p.Pro394Arg missense_variant benign SNU761 Missense Mutation SHPRH chr6 146256503 146256503 G A g.146256503G>A ENST00000275233.7 c.2644C>T p.Arg882Trp missense_variant probably damaging SNU761 Missense Mutation SYNE1 chr6 152631074 152631074 C T g.152631074C>T ENST00000265368.4 c.17098G>A p.Glu5700Lys missense_variant probably damaging SNU761 Missense Mutation SYNE1 chr6 152720813 152720813 A G g.152720813A>G ENST00000265368.4 c.7175T>C p.Val2392Ala missense_variant benign SNU761 Missense Mutation SLC22A1 chr6 160557260 160557260 C T g.160557260C>T ENST00000324965.4 c.848C>T p.Pro283Leu missense_variant probably damaging SNU761 Missense Mutation DEK chr6 18236751 18236751 C T g.18236751C>T ENST00000397239.3 c.979G>A p.Glu327Lys missense_variant benign SNU761 Missense Mutation ACOT13 chr6 24667540 24667540 A C g.24667540A>C ENST00000230048.4 c.49A>C p.Lys17Gln missense_variant benign SNU761 Missense Mutation SLC17A3 chr6 25850069 25850069 G A g.25850069G>A ENST00000360657.3 c.1001C>T p.Ser334Leu missense_variant possibly damaging SNU761 Missense Mutation PHF1 chr6 33382785 33382785 G A g.33382785G>A ENST00000374516.3 c.1103G>A p.Arg368His missense_variant benign SNU761 Missense Mutation CLPSL1 chr6 35754829 35754829 C T g.35754829C>T ENST00000373861.5 c.154C>T p.Arg52Cys missense_variant probably damaging SNU761 Missense Mutation KIF6 chr6 39311571 39311571 G A g.39311571G>A ENST00000287152.7 c.2342C>T p.Ser781Leu missense_variant probably damaging SNU761 Missense Mutation PTK7 chr6 43096780 43096780 G A g.43096780G>A ENST00000230418.4 c.145G>A p.Ala49Thr missense_variant,NMD_transcript_variant probably damaging SNU761 Missense Mutation MRPS18A chr6 43639518 43639518 G C g.43639518G>C ENST00000372133.3 c.572C>G p.Pro191Arg missense_variant benign SNU761 Missense Mutation ZNF398 chr7 148876841 148876841 G A g.148876841G>A ENST00000475153.1 c.1877G>A p.Gly626Asp missense_variant possibly damaging SNU761 Missense Mutation SLC4A2 chr7 150768189 150768189 G A g.150768189G>A ENST00000413384.2 c.1780G>A p.Glu594Lys missense_variant possibly damaging SNU761 Missense Mutation TMUB1 chr7 150779313 150779313 G A g.150779313G>A ENST00000297533.4 c.338C>T p.Ser113Leu missense_variant possibly damaging SNU761 Missense Mutation MACC1 chr7 20198546 20198546 T A g.20198546T>A ENST00000332878.4 c.1438A>T p.Met480Leu missense_variant benign SNU761 Missense Mutation DFNA5 chr7 24756882 24756882 C G g.24756882C>G ENST00000342947.3 c.688G>C p.Gly230Arg missense_variant probably damaging SNU761 Missense Mutation TTYH3 chr7 2698053 2698053 G A g.2698053G>A ENST00000258796.7 c.1384G>A p.Ala462Thr missense_variant benign SNU761 Missense Mutation ABCA13 chr7 48511162 48511162 C A g.48511162C>A ENST00000435803.1 c.12941C>A p.Ser4314Tyr missense_variant probably damaging SNU761 Missense Mutation BAZ1B chr7 72856618 72856618 G A g.72856618G>A ENST00000339594.4 c.4360C>T p.Arg1454Cys missense_variant benign SNU761 Missense Mutation ZSCAN21 chr7 99661908 99661908 G T g.99661908G>T ENST00000292450.4 c.1090G>T p.Asp364Tyr missense_variant probably damaging SNU761 Missense Mutation KLF10 chr8 103664423 103664423 C T g.103664423C>T ENST00000285407.6 c.239G>A p.Gly80Glu missense_variant possibly damaging SNU761 Missense Mutation PRSS55 chr8 10388820 10388820 T A g.10388820T>A ENST00000328655.3 c.363T>A p.Ser121Arg missense_variant benign SNU761 Missense Mutation FZD6 chr8 104330902 104330902 C G g.104330902C>G ENST00000358755.4 c.262C>G p.Gln88Glu missense_variant benign SNU761 Missense Mutation ZFAT chr8 135614014 135614014 C T g.135614014C>T ENST00000377838.3 c.1948G>A p.Ala650Thr missense_variant benign SNU761 Missense Mutation GPT chr8 145732168 145732168 G C g.145732168G>C ENST00000394955.2 c.1342G>C p.Gly448Arg missense_variant probably damaging SNU761 Missense Mutation PDLIM2 chr8 22436416 22436416 C T g.22436416C>T ENST00000308354.7 c.124C>T p.Leu42Phe missense_variant NA SNU761 Missense Mutation NRG1 chr8 32505417 32505417 T G g.32505417T>G ENST00000520502.2 c.181T>G p.Cys61Gly missense_variant possibly damaging SNU761 Missense Mutation DDHD2 chr8 38095697 38095697 G A g.38095697G>A ENST00000397166.2 c.592G>A p.Val198Ile missense_variant benign SNU761 Missense Mutation IKBKB chr8 42186655 42186655 G A g.42186655G>A ENST00000520810.1 c.2128G>A p.Ala710Thr missense_variant benign SNU761 Missense Mutation SLC20A2 chr8 42275346 42275346 A T g.42275346A>T ENST00000342228.3 c.1934T>A p.Met645Lys missense_variant benign SNU761 Missense Mutation SDR16C5 chr8 57228831 57228831 T C g.57228831T>C ENST00000303749.3 c.76A>G p.Met26Val missense_variant benign SNU761 Missense Mutation OTUD6B chr8 92097061 92097061 C T g.92097061C>T ENST00000285420.4 c.937C>T p.Arg313Trp missense_variant benign SNU761 Missense Mutation RNF224 chr9 140123270 140123270 C A g.140123270C>A ENST00000445101.2 c.203C>A p.Pro68Gln missense_variant NA SNU761 Missense Mutation CNTLN chr9 17415876 17415876 A G g.17415876A>G ENST00000262360.5 c.2887A>G p.Arg963Gly missense_variant possibly damaging SNU761 Missense Mutation KCNV2 chr9 2718880 2718880 C A g.2718880C>A ENST00000382082.3 c.1141C>A p.Leu381Ile missense_variant probably damaging SNU761 Missense Mutation IL11RA chr9 34660537 34660537 C T g.34660537C>T ENST00000318041.9 c.1109C>T p.Ala370Val missense_variant benign SNU761 Missense Mutation SIT1 chr9 35650009 35650009 C T g.35650009C>T ENST00000259608.3 c.427G>A p.Gly143Arg missense_variant possibly damaging SNU761 Missense Mutation ROR2 chr9 94486461 94486461 G T g.94486461G>T ENST00000375708.3 c.2315C>A p.Ser772Tyr missense_variant probably damaging SNU761 Missense Mutation HAUS7 chrX 152722674 152722674 C T g.152722674C>T ENST00000370211.4 c.397G>A p.Ala133Thr missense_variant possibly damaging SNU761 Missense Mutation MAGEB3 chrX 30254378 30254378 A G g.30254378A>G ENST00000361644.2 c.337A>G p.Met113Val missense_variant benign SNU761 Missense Mutation FAM47C chrX 37028585 37028585 G C g.37028585G>C ENST00000358047.3 c.2102G>C p.Arg701Pro missense_variant probably damaging SNU761 Missense Mutation FOXO4 chrX 70316535 70316535 G C g.70316535G>C ENST00000341558.3 c.157G>C p.Asp53His missense_variant benign SNU761 Missense Mutation ACRC chrX 70814188 70814188 C G g.70814188C>G ENST00000373695.1 c.148C>G p.Leu50Val missense_variant benign SNU761 Missense Mutation NHSL2 chrX 71131136 71131136 A G g.71131136A>G ENST00000540800.1 c.199A>G p.Ser67Gly missense_variant benign SNU761 Missense Mutation RGAG4 chrX 71350009 71350009 T A g.71350009T>A ENST00000479991.1 c.1382A>T p.Asp461Val missense_variant,NMD_transcript_variant possibly damaging SNU761 Missense Mutation PBDC1 chrX 75395368 75395368 T G g.75395368T>G ENST00000373357.3 c.217T>G p.Ser73Ala missense_variant possibly damaging SNU878 Missense Mutation SETDB1 chr1 150923536 150923536 G T g.150923536G>T ENST00000271640.5 c.2183G>T p.Gly728Val missense_variant probably damaging SNU878 Missense Mutation PGLYRP4 chr1 153317814 153317814 C T g.153317814C>T ENST00000359650.5 c.184G>A p.Gly62Arg missense_variant probably damaging SNU878 Missense Mutation NTRK1 chr1 156843527 156843527 A G g.156843527A>G ENST00000358660.3 c.953A>G p.Asn318Ser missense_variant probably damaging SNU878 Missense Mutation PEAR1 chr1 156880496 156880496 T C g.156880496T>C ENST00000292357.7 c.1912T>C p.Tyr638His missense_variant benign SNU878 Missense Mutation RSC1A1 chr1 15986559 15986559 T C g.15986559T>C ENST00000345034.1 c.196T>C p.Ser66Pro missense_variant benign SNU878 Missense Mutation ARHGAP30 chr1 161022098 161022098 A T g.161022098A>T ENST00000368013.3 c.996T>A p.Ser332Arg missense_variant probably damaging SNU878 Missense Mutation F5 chr1 169511985 169511985 A C g.169511985A>C ENST00000367797.3 c.2343T>G p.Ser781Arg missense_variant benign SNU878 Missense Mutation PRDX6 chr1 173446558 173446558 G A g.173446558G>A ENST00000340385.5 c.22G>A p.Gly8Arg missense_variant possibly damaging SNU878 Missense Mutation RGSL1 chr1 182522650 182522650 G A g.182522650G>A ENST00000294854.8 c.3104G>A p.Arg1035Gln missense_variant probably damaging SNU878 Missense Mutation IFFO2 chr1 19282714 19282714 C G g.19282714C>G ENST00000455833.2 c.113G>C p.Gly38Ala missense_variant benign SNU878 Missense Mutation IL19 chr1 207013261 207013261 C T g.207013261C>T ENST00000270218.6 c.277C>T p.His93Tyr missense_variant probably damaging SNU878 Missense Mutation DNAH14 chr1 225239246 225239246 G A g.225239246G>A ENST00000430092.1 c.2173G>A p.Ala725Thr missense_variant probably damaging SNU878 Missense Mutation DNAH14 chr1 225380540 225380540 A G g.225380540A>G ENST00000430092.1 c.5747A>G p.Tyr1916Cys missense_variant benign SNU878 Missense Mutation EPHA8 chr1 22903017 22903017 G A g.22903017G>A ENST00000166244.3 c.467G>A p.Gly156Asp missense_variant probably damaging SNU878 Missense Mutation SYF2 chr1 25551565 25551565 T C g.25551565T>C ENST00000236273.4 c.494A>G p.Asn165Ser missense_variant benign SNU878 Missense Mutation MACF1 chr1 39847651 39847651 G T g.39847651G>T ENST00000317713.7 c.7489G>T p.Val2497Phe missense_variant benign SNU878 Missense Mutation HIVEP3 chr1 42050411 42050411 G A g.42050411G>A ENST00000247584.5 c.58C>T p.Arg20Trp missense_variant probably damaging SNU878 Missense Mutation SZT2 chr1 43900974 43900974 G T g.43900974G>T ENST00000562955.1 c.5837G>T p.Arg1946Leu missense_variant probably damaging SNU878 Missense Mutation DAB1 chr1 57480898 57480898 G C g.57480898G>C ENST00000371234.4 c.1102C>G p.Pro368Ala missense_variant probably damaging SNU878 Missense Mutation SEC31B chr10 102269198 102269198 C T g.102269198C>T ENST00000370329.5 c.274G>A p.Gly92Arg missense_variant probably damaging SNU878 Missense Mutation FAM178A chr10 102684518 102684518 A T g.102684518A>T ENST00000238961.4 c.1760A>T p.Asn587Ile missense_variant possibly damaging SNU878 Missense Mutation GPR26 chr10 125426366 125426366 G T g.125426366G>T ENST00000284674.1 c.443G>T p.Gly148Val missense_variant probably damaging SNU878 Missense Mutation CUBN chr10 16873384 16873384 T A g.16873384T>A ENST00000377833.4 c.10395A>T p.Leu3465Phe missense_variant probably damaging SNU878 Missense Mutation ARMC3 chr10 23292231 23292231 G T g.23292231G>T ENST00000298032.5 c.1619G>T p.Ser540Ile missense_variant probably damaging SNU878 Missense Mutation PCDH15 chr10 55617017 55617017 C T g.55617017C>T ENST00000320301.6 c.3724G>A p.Val1242Met missense_variant probably damaging SNU878 Missense Mutation TTC18 chr10 75059383 75059383 G A g.75059383G>A ENST00000310715.3 c.1507C>T p.Arg503Trp missense_variant probably damaging SNU878 Missense Mutation TAF3 chr10 7866364 7866364 A G g.7866364A>G ENST00000344293.5 c.250A>G p.Ile84Val missense_variant benign SNU878 Missense Mutation KLLN chr10 89621995 89621995 C G g.89621995C>G ENST00000445946.3 c.250G>C p.Gly84Arg missense_variant benign SNU878 Missense Mutation DYNC2H1 chr11 103025246 103025246 T A g.103025246T>A ENST00000375735.2 c.3369T>A p.Asp1123Glu missense_variant possibly damaging SNU878 Missense Mutation MUC2 chr11 1095157 1095157 G A g.1095157G>A ENST00000441003.2 c.5977G>A p.G1993R missense_variant probably damaging SNU878 Missense Mutation RBM7 chr11 114278363 114278363 A G g.114278363A>G ENST00000540163.1 c.635A>G p.His212Arg missense_variant possibly damaging SNU878 Missense Mutation NXPE2 chr11 114569086 114569086 G A g.114569086G>A ENST00000375475.5 c.452G>A p.Arg151Lys missense_variant probably damaging SNU878 Missense Mutation POU2F3 chr11 120139928 120139928 G A g.120139928G>A ENST00000533620.1 c.107G>A p.Arg36Gln missense_variant,NMD_transcript_variant probably damaging SNU878 Missense Mutation ARHGEF12 chr11 120336052 120336052 G A g.120336052G>A ENST00000397843.2 c.2720G>A p.Arg907Gln missense_variant probably damaging SNU878 Missense Mutation MUC5B chr11 1262311 1262311 C T g.1262311C>T ENST00000529681.1 c.4201C>T p.Arg1401Cys missense_variant probably damaging SNU878 Missense Mutation PRDM10 chr11 129795006 129795006 C T g.129795006C>T ENST00000360871.3 c.1649G>A p.Arg550Gln missense_variant probably damaging SNU878 Missense Mutation IGSF22 chr11 18728635 18728635 C T g.18728635C>T ENST00000513874.1 c.3406G>A p.Asp1136Asn missense_variant probably damaging SNU878 Missense Mutation SYT13 chr11 45274058 45274058 C T g.45274058C>T ENST00000020926.3 c.760G>A p.Val254Met missense_variant probably damaging SNU878 Missense Mutation PTPRJ chr11 48157744 48157744 C T g.48157744C>T ENST00000418331.2 c.1769C>T p.Ala590Val missense_variant benign SNU878 Missense Mutation OR52J3 chr11 5068615 5068615 C A g.5068615C>A ENST00000380370.1 c.860C>A p.Ser287Tyr missense_variant benign SNU878 Missense Mutation OR51Q1 chr11 5443719 5443719 G A g.5443719G>A ENST00000300778.4 c.289G>A p.Glu97Lys missense_variant probably damaging SNU878 Missense Mutation OR51Q1 chr11 5443720 5443720 A T g.5443720A>T ENST00000300778.4 c.290A>T p.Glu97Val missense_variant probably damaging SNU878 Missense Mutation RPS6KB2 chr11 67200279 67200279 A T g.67200279A>T ENST00000312629.5 c.587A>T p.Lys196Met missense_variant probably damaging SNU878 Missense Mutation INPPL1 chr11 71940249 71940249 G A g.71940249G>A ENST00000298229.2 c.634G>A p.Ala212Thr missense_variant benign SNU878 Missense Mutation PLBD2 chr12 113796412 113796412 G A g.113796412G>A ENST00000280800.3 c.7G>A p.Gly3Ser missense_variant benign SNU878 Missense Mutation NOS1 chr12 117680472 117680472 G A g.117680472G>A ENST00000338101.4 c.3103C>T p.Arg1035Trp missense_variant probably damaging SNU878 Missense Mutation CAMKK2 chr12 121712287 121712287 C T g.121712287C>T ENST00000324774.5 c.43G>A p.Ala15Thr missense_variant benign SNU878 Missense Mutation HIP1R chr12 123340686 123340686 C G g.123340686C>G ENST00000253083.4 c.1288C>G p.Gln430Glu missense_variant benign SNU878 Missense Mutation TCTN2 chr12 124191321 124191321 C G g.124191321C>G ENST00000303372.5 c.1818C>G p.His606Gln missense_variant benign SNU878 Missense Mutation ULK1 chr12 132396526 132396526 T G g.132396526T>G ENST00000321867.4 c.988T>G p.Ser330Ala missense_variant probably damaging SNU878 Missense Mutation PLCZ1 chr12 18876446 18876446 T C g.18876446T>C ENST00000266505.7 c.166A>G p.Thr56Ala missense_variant possibly damaging SNU878 Missense Mutation PYROXD1 chr12 21598350 21598350 A C g.21598350A>C ENST00000240651.9 c.235A>C p.Asn79His missense_variant probably damaging SNU878 Missense Mutation TM7SF3 chr12 27127085 27127085 C T g.27127085C>T ENST00000343028.4 c.1526G>A p.Arg509Gln missense_variant benign SNU878 Missense Mutation FOXM1 chr12 2973887 2973887 C A g.2973887C>A ENST00000342628.2 c.1052G>T p.Arg351Leu missense_variant possibly damaging SNU878 Missense Mutation BICD1 chr12 32481089 32481089 G A g.32481089G>A ENST00000281474.5 c.1700G>A p.Gly567Asp missense_variant benign SNU878 Missense Mutation EFCAB4B chr12 3736607 3736607 C T g.3736607C>T ENST00000440314.2 c.1927G>A p.Val643Met missense_variant probably damaging SNU878 Missense Mutation RAD51AP1 chr12 4654991 4654991 T G g.4654991T>G ENST00000228843.9 c.253T>G p.Cys85Gly missense_variant damaging SNU878 Missense Mutation COL2A1 chr12 48372156 48372156 T C g.48372156T>C ENST00000380518.3 c.2921A>G p.Gln974Arg missense_variant benign SNU878 Missense Mutation DDN chr12 49390789 49390789 G A g.49390789G>A ENST00000421952.2 c.1870C>T p.Pro624Ser missense_variant probably damaging SNU878 Missense Mutation SOAT2 chr12 53515116 53515116 C A g.53515116C>A ENST00000301466.3 c.1167C>A p.Asn389Lys missense_variant probably damaging SNU878 Missense Mutation SLC26A10 chr12 58018760 58018760 G A g.58018760G>A ENST00000320442.4 c.1339G>A p.Glu447Lys missense_variant benign SNU878 Missense Mutation FAM90A1 chr12 8374768 8374768 C T g.8374768C>T ENST00000307435.6 c.1045G>A p.Gly349Ser missense_variant benign SNU878 Missense Mutation LRRIQ1 chr12 85431960 85431960 C G g.85431960C>G ENST00000393212.3 c.6C>G p.Asp2Glu missense_variant probably damaging SNU878 Missense Mutation MFAP5 chr12 8803138 8803138 G A g.8803138G>A ENST00000359478.2 c.295C>T p.Arg99Trp missense_variant probably damaging SNU878 Missense Mutation M6PR chr12 9098926 9098926 C G g.9098926C>G ENST00000000412.3 c.75G>C p.Trp25Cys missense_variant possibly damaging SNU878 Missense Mutation CCDC41 chr12 94806100 94806100 T A g.94806100T>A ENST00000339839.5 c.167A>T p.His56Leu missense_variant probably damaging SNU878 Missense Mutation PROSER1 chr13 39597201 39597201 T C g.39597201T>C ENST00000352251.3 c.631A>G p.Thr211Ala missense_variant probably damaging SNU878 Missense Mutation VWA8 chr13 42439886 42439886 T C g.42439886T>C ENST00000281496.6 c.1411A>G p.Ile471Val missense_variant benign SNU878 Missense Mutation FBXL3 chr13 77595944 77595944 C T g.77595944C>T ENST00000355619.5 c.52G>A p.Ala18Thr missense_variant benign SNU878 Missense Mutation DOCK9 chr13 99554562 99554562 C T g.99554562C>T ENST00000376460.1 c.1360G>A p.Ala454Thr missense_variant benign SNU878 Missense Mutation WDR25 chr14 100950366 100950366 A G g.100950366A>G ENST00000335290.6 c.1006A>G p.Ile336Val missense_variant benign SNU878 Missense Mutation RTL1 chr14 101348782 101348782 C T g.101348782C>T ENST00000534062.1 c.2344G>A p.Val782Ile missense_variant benign SNU878 Missense Mutation ASPG chr14 104570683 104570683 G C g.104570683G>C ENST00000455920.2 c.796G>C p.Glu266Gln missense_variant possibly damaging SNU878 Missense Mutation CEP170B chr14 105353890 105353890 G A g.105353890G>A ENST00000414716.3 c.3314G>A p.Gly1105Glu missense_variant benign SNU878 Missense Mutation AHNAK2 chr14 105420440 105420440 C T g.105420440C>T ENST00000333244.5 c.1348G>A p.Gly450Ser missense_variant possibly damaging SNU878 Missense Mutation OR4M1 chr14 20249083 20249083 G C g.20249083G>C ENST00000315957.4 c.602G>C p.Cys201Ser missense_variant benign SNU878 Missense Mutation OR4L1 chr14 20528588 20528588 C A g.20528588C>A ENST00000315683.1 c.385C>A p.Pro129Thr missense_variant probably damaging SNU878 Missense Mutation OR4E2 chr14 22133439 22133439 C G g.22133439C>G ENST00000408935.1 c.143C>G p.Ala48Gly missense_variant benign SNU878 Missense Mutation STYX chr14 53197235 53197235 A G g.53197235A>G ENST00000354586.4 c.43A>G p.Lys15Glu missense_variant benign SNU878 Missense Mutation SYNE2 chr14 64518295 64518295 C T g.64518295C>T ENST00000344113.4 c.7664C>T p.Thr2555Met missense_variant probably damaging SNU878 Missense Mutation MPP5 chr14 67769266 67769266 T G g.67769266T>G ENST00000261681.4 c.941T>G p.Val314Gly missense_variant probably damaging SNU878 Missense Mutation ALDH6A1 chr14 74541672 74541672 A T g.74541672A>T ENST00000350259.4 c.97T>A p.Phe33Ile missense_variant benign SNU878 Missense Mutation SAMD15 chr14 77845198 77845198 G T g.77845198G>T ENST00000216471.4 c.1437G>T p.Leu479Phe missense_variant benign SNU878 Missense Mutation PRIMA1 chr14 94254037 94254037 G C g.94254037G>C ENST00000316227.3 c.28C>G p.Arg10Gly missense_variant benign SNU878 Missense Mutation NPAP1 chr15 24921117 24921117 C A g.24921117C>A ENST00000329468.2 c.103C>A p.Pro35Thr missense_variant possibly damaging SNU878 Missense Mutation HERC2 chr15 28361890 28361890 C A g.28361890C>A ENST00000261609.7 c.13530G>T p.Glu4510Asp missense_variant benign SNU878 Missense Mutation SLC12A6 chr15 34628739 34628739 C T g.34628739C>T ENST00000354181.3 c.143G>A p.Arg48Gln missense_variant benign SNU878 Missense Mutation MGA chr15 42058948 42058948 G A g.42058948G>A ENST00000219905.7 c.8668G>A p.Val2890Ile missense_variant benign SNU878 Missense Mutation MAPKBP1 chr15 42115750 42115750 C T g.42115750C>T ENST00000456763.2 c.3722C>T p.Pro1241Leu missense_variant benign SNU878 Missense Mutation SPTBN5 chr15 42167208 42167208 G A g.42167208G>A ENST00000320955.6 c.4334C>T p.Ser1445Leu missense_variant possibly damaging SNU878 Missense Mutation USP8 chr15 50769067 50769067 C T g.50769067C>T ENST00000307179.4 c.871C>T p.Arg291Cys missense_variant probably damaging SNU878 Missense Mutation MEGF11 chr15 66190361 66190361 G A g.66190361G>A ENST00000409699.2 c.3046C>T p.Pro1016Ser missense_variant probably damaging SNU878 Missense Mutation THSD4 chr15 71507696 71507696 G A g.71507696G>A ENST00000261862.6 c.422G>A p.Arg141Gln missense_variant probably damaging SNU878 Missense Mutation CYP1A1 chr15 75015255 75015255 C G g.75015255C>G ENST00000379727.3 c.184G>C p.Ala62Pro missense_variant probably damaging SNU878 Missense Mutation PPCDC chr15 75341030 75341030 G C g.75341030G>C ENST00000342932.3 c.497G>C p.Cys166Ser missense_variant benign SNU878 Missense Mutation C15orf39 chr15 75503198 75503198 G A g.75503198G>A ENST00000360639.2 c.2885G>A p.Arg962Lys missense_variant benign SNU878 Missense Mutation ADAMTSL3 chr15 84611451 84611451 G A g.84611451G>A ENST00000286744.5 c.2221G>A p.Glu741Lys missense_variant probably damaging SNU878 Missense Mutation WDR93 chr15 90245188 90245188 T C g.90245188T>C ENST00000268130.7 c.211T>C p.Ser71Pro missense_variant possibly damaging SNU878 Missense Mutation IGF1R chr15 99486251 99486251 A C g.99486251A>C ENST00000268035.6 c.3557A>C p.Asp1186Ala missense_variant probably damaging SNU878 Missense Mutation TXNDC11 chr16 11773284 11773284 C T g.11773284C>T ENST00000283033.5 c.2644G>A p.Asp882Asn missense_variant probably damaging SNU878 Missense Mutation CACNA1H chr16 1254357 1254357 G A g.1254357G>A ENST00000348261.5 c.2350G>A p.Gly784Ser missense_variant benign SNU878 Missense Mutation USP31 chr16 23080680 23080680 G A g.23080680G>A ENST00000219689.7 c.2746C>T p.Arg916Trp missense_variant probably damaging SNU878 Missense Mutation ERN2 chr16 23716246 23716246 C T g.23716246C>T ENST00000256797.4 c.956G>A p.Arg319Gln missense_variant benign SNU878 Missense Mutation LCMT1 chr16 25176004 25176004 A G g.25176004A>G ENST00000399069.3 c.655A>G p.Ser219Gly missense_variant benign SNU878 Missense Mutation PPL chr16 4940856 4940856 C T g.4940856C>T ENST00000345988.2 c.2035G>A p.Ala679Thr missense_variant benign SNU878 Missense Mutation BEAN1 chr16 66514612 66514612 C G g.66514612C>G ENST00000536005.2 c.564C>G p.His188Gln missense_variant benign SNU878 Missense Mutation CHTF18 chr16 847877 847877 A G g.847877A>G ENST00000262315.9 c.2830A>G p.Met944Val missense_variant benign SNU878 Missense Mutation GAS8 chr16 90106814 90106814 C T g.90106814C>T ENST00000268699.4 c.1118C>T p.Ala373Val missense_variant benign SNU878 Missense Mutation TMEM132E chr17 32955635 32955635 A T g.32955635A>T ENST00000321639.5 c.782A>T p.Gln261Leu missense_variant probably damaging SNU878 Missense Mutation GPR179 chr17 36483079 36483079 C T g.36483079C>T ENST00000342292.4 c.6373G>A p.Ala2125Thr missense_variant benign SNU878 Missense Mutation SOCS7 chr17 36520715 36520715 C T g.36520715C>T ENST00000331159.5 c.934C>T p.Pro312Ser missense_variant probably damaging SNU878 Missense Mutation MED1 chr17 37564234 37564234 C T g.37564234C>T ENST00000300651.6 c.4240G>A p.Gly1414Arg missense_variant probably damaging SNU878 Missense Mutation KRTAP4-12 chr17 39280361 39280361 C T g.39280361C>T ENST00000394014.1 c.14G>A p.Cys5Tyr missense_variant probably damaging SNU878 Missense Mutation PDK2 chr17 48174864 48174864 A G g.48174864A>G ENST00000503176.1 c.196A>G p.Lys66Glu missense_variant benign SNU878 Missense Mutation LPO chr17 56326532 56326532 A G g.56326532A>G ENST00000262290.4 c.437A>G p.Asn146Ser missense_variant probably damaging SNU878 Missense Mutation MAP3K3 chr17 61759194 61759194 C T g.61759194C>T ENST00000361733.3 c.571C>T p.Arg191Trp missense_variant possibly damaging SNU878 Missense Mutation KIAA0195 chr17 73481566 73481566 G C g.73481566G>C ENST00000314256.7 c.82G>C p.Glu28Gln missense_variant benign SNU878 Missense Mutation RHBDF2 chr17 74475271 74475271 G A g.74475271G>A ENST00000313080.4 c.448C>T p.Arg150Cys missense_variant probably damaging SNU878 Missense Mutation TP53 chr17 7577529 7577529 A T g.7577529A>T ENST00000269305.4 c.752T>A p.Ile251Asn missense_variant probably damaging SNU878 Missense Mutation RNF213 chr17 78313767 78313767 C T g.78313767C>T ENST00000582970.1 c.5600C>T p.Pro1867Leu missense_variant damaging SNU878 Missense Mutation GCGR chr17 79771513 79771513 C T g.79771513C>T ENST00000400723.3 c.1382C>T p.Ala461Val missense_variant benign SNU878 Missense Mutation FN3K chr17 80699241 80699241 C T g.80699241C>T ENST00000300784.7 c.440C>T p.Thr147Met missense_variant probably damaging SNU878 Missense Mutation RTTN chr18 67794945 67794945 T G g.67794945T>G ENST00000255674.6 c.3176A>C p.Asp1059Ala missense_variant probably damaging SNU878 Missense Mutation ATP9B chr18 76856499 76856499 C T g.76856499C>T ENST00000307671.7 c.143C>T p.Ala48Val missense_variant benign SNU878 Missense Mutation NFATC1 chr18 77246493 77246493 G A g.77246493G>A ENST00000253506.5 c.2338G>A p.Val780Ile missense_variant benign SNU878 Missense Mutation TYK2 chr19 10476545 10476545 C T g.10476545C>T ENST00000264818.6 c.659G>A p.Arg220His missense_variant probably damaging SNU878 Missense Mutation BEST2 chr19 12866259 12866259 G A g.12866259G>A ENST00000042931.1 c.703G>A p.Val235Met missense_variant probably damaging SNU878 Missense Mutation MRPS12 chr19 39421978 39421978 C T g.39421978C>T ENST00000308018.4 c.44C>T p.Thr15Ile missense_variant benign SNU878 Missense Mutation PAFAH1B3 chr19 42806104 42806104 C T g.42806104C>T ENST00000262890.3 c.166G>A p.Glu56Lys (Splice) missense_variant,splice_region_variant probably damaging SNU878 Missense Mutation XRCC1 chr19 44050835 44050835 G C g.44050835G>C ENST00000262887.5 c.1338C>G p.Ser446Arg missense_variant possibly damaging SNU878 Missense Mutation EXOC3L2 chr19 45728130 45728130 C T g.45728130C>T ENST00000252482.3 c.446G>A p.Ser149Asn missense_variant possibly damaging SNU878 Missense Mutation SLC8A2 chr19 47951223 47951223 C T g.47951223C>T ENST00000236877.6 c.1606G>A p.Glu536Lys missense_variant probably damaging SNU878 Missense Mutation PLIN3 chr19 4852138 4852138 G A g.4852138G>A ENST00000221957.4 c.524C>T p.Ser175Leu missense_variant possibly damaging SNU878 Missense Mutation PRMT1 chr19 50189494 50189494 T A g.50189494T>A ENST00000391851.4 c.850T>A p.Ser284Thr missense_variant benign SNU878 Missense Mutation ZNF534 chr19 52942428 52942428 A G g.52942428A>G ENST00000332323.6 c.1754A>G p.His585Arg missense_variant probably damaging SNU878 Missense Mutation TFPT chr19 54610388 54610388 T C g.54610388T>C ENST00000391759.1 c.731A>G p.Tyr244Cys missense_variant probably damaging SNU878 Missense Mutation FAM71E2 chr19 55870798 55870798 G A g.55870798G>A ENST00000424985.3 c.1438C>T p.Arg480Trp missense_variant benign SNU878 Missense Mutation ZNF418 chr19 58441801 58441801 G C g.58441801G>C ENST00000396147.1 c.128C>G p.Ser43Cys missense_variant probably damaging SNU878 Missense Mutation GPR108 chr19 6733066 6733066 C T g.6733066C>T ENST00000264080.7 c.865G>A p.Val289Ile missense_variant probably damaging SNU878 Missense Mutation EMR1 chr19 6897265 6897265 C G g.6897265C>G ENST00000250572.8 c.344C>G p.Pro115Arg missense_variant probably damaging SNU878 Missense Mutation C19orf59 chr19 7743416 7743416 G A g.7743416G>A ENST00000333598.3 c.413G>A p.Arg138Lys missense_variant benign SNU878 Missense Mutation MAP4K4 chr2 102480484 102480484 A G g.102480484A>G ENST00000324219.4 c.2068A>G p.Arg690Gly missense_variant possibly damaging SNU878 Missense Mutation GREB1 chr2 11716515 11716515 G T g.11716515G>T ENST00000234142.5 c.491G>T p.Gly164Val missense_variant probably damaging SNU878 Missense Mutation CCDC74A chr2 132287259 132287259 A G g.132287259A>G ENST00000295171.6 c.290A>G p.Lys97Arg missense_variant possibly damaging SNU878 Missense Mutation THSD7B chr2 137990660 137990660 G T g.137990660G>T ENST00000413152.2 c.2014G>T p.Val672Phe missense_variant probably damaging SNU878 Missense Mutation NEB chr2 152420191 152420191 G C g.152420191G>C ENST00000172853.10 c.13519C>G p.Leu4507Val missense_variant possibly damaging SNU878 Missense Mutation SCN2A chr2 166201069 166201069 G A g.166201069G>A ENST00000283256.6 c.2567G>A p.Arg856Gln missense_variant probably damaging SNU878 Missense Mutation KLHL41 chr2 170366867 170366867 A C g.170366867A>C ENST00000284669.1 c.579A>C p.Glu193Asp missense_variant probably damaging SNU878 Missense Mutation HOXD9 chr2 176988059 176988059 C G g.176988059C>G ENST00000249499.6 c.563C>G p.Ser188Cys missense_variant possibly damaging SNU878 Missense Mutation TTN chr2 179430305 179430305 G A g.179430305G>A ENST00000591111.1 c.75631C>T p.Arg25211Cys missense_variant probably damaging SNU878 Missense Mutation ITGAV chr2 187531882 187531882 A T g.187531882A>T ENST00000261023.3 c.2252A>T p.Asn751Ile missense_variant probably damaging SNU878 Missense Mutation PLEKHM3 chr2 208865900 208865900 G A g.208865900G>A ENST00000389247.4 c.464C>T p.Thr155Ile missense_variant possibly damaging SNU878 Missense Mutation PIKFYVE chr2 209191067 209191067 A G g.209191067A>G ENST00000264380.4 c.3532A>G p.Ser1178Gly missense_variant benign SNU878 Missense Mutation STK36 chr2 219562629 219562629 C T g.219562629C>T ENST00000295709.3 c.2962C>T p.Leu988Phe missense_variant benign SNU878 Missense Mutation STK11IP chr2 220471836 220471836 G A g.220471836G>A ENST00000295641.10 c.1229G>A p.Arg410Gln missense_variant probably damaging SNU878 Missense Mutation SCG2 chr2 224463496 224463496 T C g.224463496T>C ENST00000305409.2 c.505A>G p.Met169Val missense_variant possibly damaging SNU878 Missense Mutation COL6A3 chr2 238253210 238253210 T C g.238253210T>C ENST00000295550.4 c.7451A>G p.Gln2484Arg missense_variant probably damaging SNU878 Missense Mutation COL6A3 chr2 238253849 238253849 T C g.238253849T>C ENST00000295550.4 c.7100A>G p.Lys2367Arg missense_variant probably damaging SNU878 Missense Mutation ASXL2 chr2 25965818 25965818 T A g.25965818T>A ENST00000435504.4 c.3388A>T p.Thr1130Ser missense_variant probably damaging SNU878 Missense Mutation LTBP1 chr2 33572509 33572509 G T g.33572509G>T ENST00000404816.2 c.3932G>T p.Cys1311Phe missense_variant probably damaging SNU878 Missense Mutation NDUFAF7 chr2 37474622 37474622 T A g.37474622T>A ENST00000002125.4 c.960T>A p.His320Gln missense_variant probably damaging SNU878 Missense Mutation SMEK2 chr2 55786081 55786081 T A g.55786081T>A ENST00000345102.5 c.2284A>T p.Asn762Tyr missense_variant probably damaging SNU878 Missense Mutation RSAD2 chr2 7023549 7023549 C T g.7023549C>T ENST00000382040.3 c.394C>T p.Arg132Trp missense_variant probably damaging SNU878 Missense Mutation PCBP1 chr2 70315072 70315072 A G g.70315072A>G ENST00000303577.5 c.197A>G p.Asn66Ser missense_variant benign SNU878 Missense Mutation SMYD5 chr2 73450609 73450609 C T g.73450609C>T ENST00000389501.4 c.832C>T p.Arg278Cys missense_variant probably damaging SNU878 Missense Mutation PTCD3 chr2 86362008 86362008 A G g.86362008A>G ENST00000254630.7 c.1676A>G p.Tyr559Cys missense_variant probably damaging SNU878 Missense Mutation LMAN2L chr2 97373114 97373114 A C g.97373114A>C ENST00000264963.4 c.926T>G p.Leu309Arg missense_variant benign SNU878 Missense Mutation VWA3B chr2 98887338 98887338 C T g.98887338C>T ENST00000477737.1 c.3037C>T p.Pro1013Ser missense_variant benign SNU878 Missense Mutation JAG1 chr20 10621771 10621771 T A g.10621771T>A ENST00000254958.5 c.3038A>T p.His1013Leu missense_variant possibly damaging SNU878 Missense Mutation WFDC12 chr20 43752769 43752769 G C g.43752769G>C ENST00000372785.3 c.217C>G p.Pro73Ala missense_variant probably damaging SNU878 Missense Mutation ZSWIM3 chr20 44506576 44506576 G T g.44506576G>T ENST00000255152.2 c.1379G>T p.Cys460Phe missense_variant benign SNU878 Missense Mutation EYA2 chr20 45633672 45633672 C T g.45633672C>T ENST00000317304.6 c.247C>T p.Pro83Ser missense_variant possibly damaging SNU878 Missense Mutation KCNB1 chr20 47989848 47989848 G A g.47989848G>A ENST00000371741.4 c.2249C>T p.Ala750Val missense_variant benign SNU878 Missense Mutation CASS4 chr20 55026995 55026995 G A g.55026995G>A ENST00000360314.3 c.763G>A p.Val255Ile missense_variant benign SNU878 Missense Mutation ABCG1 chr21 43697011 43697011 G T g.43697011G>T ENST00000361802.2 c.544G>T p.Ala182Ser missense_variant possibly damaging SNU878 Missense Mutation FTCD chr21 47574201 47574201 C T g.47574201C>T ENST00000291670.5 c.100G>A p.Val34Met missense_variant benign SNU878 Missense Mutation C22orf43 chr22 23964294 23964294 T A g.23964294T>A ENST00000317749.5 c.368A>T p.Asp123Val missense_variant probably damaging SNU878 Missense Mutation MYO18B chr22 26231288 26231288 C T g.26231288C>T ENST00000335473.7 c.3086C>T p.Ala1029Val missense_variant benign SNU878 Missense Mutation MEI1 chr22 42112147 42112147 C T g.42112147C>T ENST00000401548.3 c.526C>T p.His176Tyr missense_variant benign SNU878 Missense Mutation EFCAB6 chr22 44022441 44022441 C T g.44022441C>T ENST00000262726.7 c.2351G>A p.Arg784His missense_variant probably damaging SNU878 Missense Mutation NUP50 chr22 45564067 45564067 A T g.45564067A>T ENST00000347635.4 c.9A>T p.Lys3Asn missense_variant possibly damaging SNU878 Missense Mutation SBF1 chr22 50903122 50903122 C T g.50903122C>T ENST00000380817.3 c.1477G>A p.Gly493Ser missense_variant benign SNU878 Missense Mutation LNP1 chr3 100174693 100174693 G A g.100174693G>A ENST00000383693.3 c.460G>A p.Glu154Lys missense_variant benign SNU878 Missense Mutation IRAK2 chr3 10219530 10219530 G A g.10219530G>A ENST00000256458.4 c.103G>A p.Val35Met missense_variant probably damaging SNU878 Missense Mutation PDIA5 chr3 122880294 122880294 G T g.122880294G>T ENST00000316218.7 c.1471G>T p.Asp491Tyr missense_variant probably damaging SNU878 Missense Mutation KIAA1257 chr3 128712028 128712028 C G g.128712028C>G ENST00000265068.5 c.120G>C p.Lys40Asn missense_variant benign SNU878 Missense Mutation TOPBP1 chr3 133379913 133379913 G T g.133379913G>T ENST00000260810.5 c.59C>A p.Ser20Tyr missense_variant probably damaging SNU878 Missense Mutation AMOTL2 chr3 134079028 134079028 A C g.134079028A>C ENST00000249883.5 c.1803T>G p.His601Gln missense_variant probably damaging SNU878 Missense Mutation TRPC1 chr3 142443436 142443436 C G g.142443436C>G ENST00000273482.6 c.35C>G p.Ser12Trp missense_variant probably damaging SNU878 Missense Mutation MYNN chr3 169497169 169497169 G C g.169497169G>C ENST00000349841.5 c.880G>C p.Asp294His missense_variant probably damaging SNU878 Missense Mutation ECE2 chr3 183994291 183994291 C A g.183994291C>A ENST00000357474.5 c.62C>A p.Thr21Lys missense_variant benign SNU878 Missense Mutation EPHB3 chr3 184299064 184299064 G A g.184299064G>A ENST00000330394.2 c.2756G>A p.Arg919His missense_variant probably damaging SNU878 Missense Mutation OSTN chr3 190936638 190936638 G T g.190936638G>T ENST00000339051.1 c.205G>T p.Val69Leu missense_variant possibly damaging SNU878 Missense Mutation CMTM7 chr3 32483357 32483357 G C g.32483357G>C ENST00000334983.5 c.185G>C p.Cys62Ser missense_variant possibly damaging SNU878 Missense Mutation SCN10A chr3 38835449 38835449 G A g.38835449G>A ENST00000449082.2 c.53C>T p.Pro18Leu missense_variant probably damaging SNU878 Missense Mutation SETD2 chr3 47079245 47079245 T C g.47079245T>C ENST00000409792.3 c.7261A>G p.Thr2421Ala missense_variant benign SNU878 Missense Mutation PRKCD chr3 53213727 53213727 G A g.53213727G>A ENST00000330452.3 c.250G>A p.Val84Met missense_variant probably damaging SNU878 Missense Mutation DNAH12 chr3 57431883 57431883 T G g.57431883T>G ENST00000351747.2 c.3985A>C p.Ile1329Leu missense_variant benign SNU878 Missense Mutation PXK chr3 58385095 58385095 T C g.58385095T>C ENST00000356151.2 c.1172T>C p.Leu391Ser missense_variant probably damaging SNU878 Missense Mutation LARP7 chr4 113575290 113575290 G A g.113575290G>A ENST00000324052.6 c.1643G>A p.Arg548Gln missense_variant probably damaging SNU878 Missense Mutation ATP8A1 chr4 42448628 42448628 T C g.42448628T>C ENST00000381668.5 c.2930A>G p.Tyr977Cys missense_variant probably damaging SNU878 Missense Mutation FIP1L1 chr4 54319219 54319219 G A g.54319219G>A ENST00000337488.6 c.1418G>A p.Arg473His missense_variant damaging SNU878 Missense Mutation C4orf40 chr4 71024132 71024132 C A g.71024132C>A ENST00000344526.5 c.163C>A p.Pro55Thr missense_variant possibly damaging SNU878 Missense Mutation C5orf15 chr5 133295484 133295484 T C g.133295484T>C ENST00000231512.3 c.367A>G p.Ser123Gly missense_variant benign SNU878 Missense Mutation PCDHB12 chr5 140589267 140589267 C A g.140589267C>A ENST00000239450.2 c.788C>A p.Thr263Asn missense_variant possibly damaging SNU878 Missense Mutation PCDHGB2 chr5 140742119 140742119 T C g.140742119T>C ENST00000522605.1 c.2417T>C p.Leu806Ser missense_variant benign SNU878 Missense Mutation FAM105A chr5 14602386 14602386 T C g.14602386T>C ENST00000274217.3 c.443T>C p.Ile148Thr missense_variant probably damaging SNU878 Missense Mutation CDHR2 chr5 176003124 176003124 G A g.176003124G>A ENST00000261944.5 c.1132G>A p.Glu378Lys missense_variant probably damaging SNU878 Missense Mutation PRR7 chr5 176882922 176882922 G A g.176882922G>A ENST00000323249.3 c.625G>A p.Gly209Ser missense_variant possibly damaging SNU878 Missense Mutation MGAT1 chr5 180219842 180219842 C A g.180219842C>A ENST00000307826.4 c.130G>T p.Asp44Tyr missense_variant benign SNU878 Missense Mutation ZFP62 chr5 180277741 180277741 G A g.180277741G>A ENST00000502412.1 c.754C>T p.Pro252Ser missense_variant probably damaging SNU878 Missense Mutation ADAMTS16 chr5 5235164 5235164 C T g.5235164C>T ENST00000274181.7 c.1888C>T p.Arg630Cys missense_variant probably damaging SNU878 Missense Mutation DHX29 chr5 54557294 54557294 T C g.54557294T>C ENST00000251636.5 c.3862A>G p.Thr1288Ala missense_variant probably damaging SNU878 Missense Mutation MAST4 chr5 66460561 66460561 G C g.66460561G>C ENST00000403625.2 c.5554G>C p.Asp1852His missense_variant possibly damaging SNU878 Missense Mutation MTRR chr5 7873624 7873624 C T g.7873624C>T ENST00000264668.2 c.349C>T p.Arg117Trp missense_variant benign SNU878 Missense Mutation SPZ1 chr5 79616101 79616101 C G g.79616101C>G ENST00000296739.4 c.67C>G p.Pro23Ala missense_variant benign SNU878 Missense Mutation TMEM161B chr5 87536663 87536663 T C g.87536663T>C ENST00000296595.6 c.74A>G p.Tyr25Cys missense_variant probably damaging SNU878 Missense Mutation KIAA0408 chr6 127771491 127771491 G A g.127771491G>A ENST00000483725.3 c.142C>T p.Arg48Trp missense_variant possibly damaging SNU878 Missense Mutation ENPP3 chr6 131973973 131973973 G A g.131973973G>A ENST00000357639.3 c.406G>A p.Glu136Lys (Splice) missense_variant,splice_region_variant benign SNU878 Missense Mutation CCDC170 chr6 151917550 151917550 G C g.151917550G>C ENST00000239374.7 c.1548G>C p.Glu516Asp missense_variant possibly damaging SNU878 Missense Mutation C6orf10 chr6 32284186 32284186 G C g.32284186G>C ENST00000442822.2 c.517C>G p.Leu173Val missense_variant NA SNU878 Missense Mutation SPDEF chr6 34508842 34508842 C T g.34508842C>T ENST00000374037.3 c.553G>A p.Ala185Thr missense_variant benign SNU878 Missense Mutation PGC chr6 41712425 41712425 C T g.41712425C>T ENST00000356667.4 c.181G>A p.Val61Met missense_variant probably damaging SNU878 Missense Mutation DSP chr6 7580466 7580466 T G g.7580466T>G ENST00000379802.3 c.4043T>G p.Leu1348Arg missense_variant probably damaging SNU878 Missense Mutation RRAGD chr6 90077841 90077841 C G g.90077841C>G ENST00000369415.4 c.1137G>C p.Lys379Asn missense_variant benign SNU878 Missense Mutation IQUB chr7 123120000 123120000 C T g.123120000C>T ENST00000324698.6 c.1259G>A p.Arg420His missense_variant benign SNU878 Missense Mutation HYAL4 chr7 123508464 123508464 A G g.123508464A>G ENST00000223026.4 c.137A>G p.Lys46Arg missense_variant probably damaging SNU878 Missense Mutation RBM28 chr7 127957772 127957772 C G g.127957772C>G ENST00000223073.2 c.1728G>C p.Glu576Asp missense_variant probably damaging SNU878 Missense Mutation DGKB chr7 14613866 14613866 T G g.14613866T>G ENST00000258767.5 c.1744A>C p.Ile582Leu missense_variant probably damaging SNU878 Missense Mutation MICALL2 chr7 1484810 1484810 G T g.1484810G>T ENST00000297508.7 c.896C>A p.Ser299Tyr missense_variant benign SNU878 Missense Mutation SLC4A2 chr7 150772565 150772565 G T g.150772565G>T ENST00000413384.2 c.3271G>T p.Val1091Leu missense_variant benign SNU878 Missense Mutation DNAJB6 chr7 157202692 157202692 G T g.157202692G>T ENST00000262177.4 c.895G>T p.Ala299Ser missense_variant benign SNU878 Missense Mutation TWISTNB chr7 19748608 19748608 G T g.19748608G>T ENST00000222567.5 c.32C>A p.Pro11Gln missense_variant benign SNU878 Missense Mutation DNAH11 chr7 21778387 21778387 A T g.21778387A>T ENST00000409508.3 c.7714A>T p.Ile2572Phe missense_variant possibly damaging SNU878 Missense Mutation PDE1C chr7 31848693 31848693 C T g.31848693C>T ENST00000321453.7 c.1843G>A p.Asp615Asn missense_variant benign SNU878 Missense Mutation BBS9 chr7 33573683 33573683 A T g.33573683A>T ENST00000242067.6 c.2416A>T p.Ser806Cys missense_variant probably damaging SNU878 Missense Mutation VPS41 chr7 38797967 38797967 T C g.38797967T>C ENST00000310301.4 c.1537A>G p.Thr513Ala missense_variant benign SNU878 Missense Mutation ZMIZ2 chr7 44806095 44806095 C G g.44806095C>G ENST00000309315.4 c.2488C>G p.Pro830Ala missense_variant benign SNU878 Missense Mutation CCDC146 chr7 76797082 76797082 A G g.76797082A>G ENST00000285871.4 c.97A>G p.Ile33Val missense_variant benign SNU878 Missense Mutation AKAP9 chr7 91729151 91729151 T A g.91729151T>A ENST00000359028.2 c.10876T>A p.Trp3626Arg missense_variant benign SNU878 Missense Mutation CYP3A5 chr7 99250372 99250372 T C g.99250372T>C ENST00000222982.4 c.1057A>G p.Met353Val missense_variant damaging SNU878 Missense Mutation FGL1 chr8 17731898 17731898 C A g.17731898C>A ENST00000381840.2 c.377G>T p.Arg126Leu missense_variant probably damaging SNU878 Missense Mutation EFCAB1 chr8 49643972 49643972 C T g.49643972C>T ENST00000262103.3 c.149G>A p.Arg50His missense_variant probably damaging SNU878 Missense Mutation PXDNL chr8 52361621 52361621 A G g.52361621A>G ENST00000356297.4 c.1307T>C p.Val436Ala missense_variant benign SNU878 Missense Mutation GGH chr8 63930142 63930142 G T g.63930142G>T ENST00000260118.6 c.745C>A p.Pro249Thr missense_variant benign SNU878 Missense Mutation CSPP1 chr8 68107673 68107673 G A g.68107673G>A ENST00000262210.5 c.3511G>A p.Gly1171Arg missense_variant benign SNU878 Missense Mutation C8orf34 chr8 69400278 69400278 C T g.69400278C>T ENST00000348340.2 c.499C>T p.Leu167Phe missense_variant probably damaging SNU878 Missense Mutation ZFHX4 chr8 77765167 77765167 C T g.77765167C>T ENST00000521891.2 c.6010C>T p.Pro2004Ser missense_variant probably damaging SNU878 Missense Mutation CTNNAL1 chr9 111745513 111745513 T C g.111745513T>C ENST00000325551.4 c.812A>G p.Lys271Arg missense_variant possibly damaging SNU878 Missense Mutation PAPPA chr9 119144750 119144750 C T g.119144750C>T ENST00000328252.3 c.4754C>T p.Thr1585Ile missense_variant benign SNU878 Missense Mutation TRIM32 chr9 119460430 119460430 C T g.119460430C>T ENST00000373983.2 c.409C>T p.Pro137Ser missense_variant benign SNU878 Missense Mutation DDX31 chr9 135470344 135470344 G A g.135470344G>A ENST00000372159.3 c.2465C>T p.Pro822Leu missense_variant possibly damaging SNU878 Missense Mutation FOCAD chr9 20881896 20881896 G T g.20881896G>T ENST00000338382.6 c.2344G>T p.Val782Leu missense_variant probably damaging SNU878 Missense Mutation TUSC1 chr9 25677689 25677689 A G g.25677689A>G ENST00000358022.3 c.631T>C p.Trp211Arg missense_variant benign SNU878 Missense Mutation RUSC2 chr9 35561055 35561055 A G g.35561055A>G ENST00000361226.3 c.4310A>G p.Gln1437Arg missense_variant benign SNU878 Missense Mutation RNF38 chr9 36352808 36352808 C A g.36352808C>A ENST00000259605.6 c.1109G>T p.Arg370Leu missense_variant probably damaging SNU878 Missense Mutation SPATA31E1 chr9 90501107 90501107 T C g.90501107T>C ENST00000325643.5 c.1705T>C p.Trp569Arg missense_variant probably damaging SNU878 Missense Mutation MAGEA10 chrX 151303404 151303404 A G g.151303404A>G ENST00000244096.3 c.689T>C p.Ile230Thr missense_variant possibly damaging SNU878 Missense Mutation SRPK3 chrX 153050416 153050416 C A g.153050416C>A ENST00000370101.3 c.1384C>A p.Leu462Met missense_variant probably damaging SNU878 Missense Mutation NHS chrX 17744958 17744958 A G g.17744958A>G ENST00000380060.3 c.2669A>G p.Glu890Gly missense_variant benign SNU878 Missense Mutation PHEX chrX 22051187 22051187 G T g.22051187G>T ENST00000379374.4 c.64G>T p.Ala22Ser missense_variant benign SNU878 Missense Mutation P2RY10 chrX 78216325 78216325 G A g.78216325G>A ENST00000171757.2 c.308G>A p.Arg103Lys missense_variant benign SNU886 Missense Mutation GPR88 chr1 101004613 101004613 C A g.101004613C>A ENST00000315033.4 c.91C>A p.Arg31Ser missense_variant probably damaging SNU886 Missense Mutation C1orf159 chr1 1021387 1021387 G C g.1021387G>C ENST00000294576.5 c.316C>G p.Pro106Ala missense_variant probably damaging SNU886 Missense Mutation VAV3 chr1 108185345 108185345 A G g.108185345A>G ENST00000370056.4 c.1810T>C p.Ser604Pro missense_variant benign SNU886 Missense Mutation CELSR2 chr1 109814294 109814294 C T g.109814294C>T ENST00000271332.3 c.7876C>T p.Arg2626Cys missense_variant probably damaging SNU886 Missense Mutation WNT2B chr1 113059924 113059924 G A g.113059924G>A ENST00000369684.4 c.863G>A p.Arg288His missense_variant benign SNU886 Missense Mutation SETDB1 chr1 150935609 150935609 A G g.150935609A>G ENST00000271640.5 c.3451A>G p.Met1151Val missense_variant benign SNU886 Missense Mutation LCE2B chr1 152659498 152659498 C G g.152659498C>G ENST00000368780.3 c.179C>G p.Ser60Cys missense_variant probably damaging SNU886 Missense Mutation S100A16 chr1 153580513 153580513 G C g.153580513G>C ENST00000368703.2 c.115C>G p.Arg39Gly missense_variant benign SNU886 Missense Mutation CRTC2 chr1 153921613 153921613 A T g.153921613A>T ENST00000368633.1 c.1652T>A p.Met551Lys missense_variant benign SNU886 Missense Mutation GBA chr1 155204815 155204815 T C g.155204815T>C ENST00000327247.5 c.1582A>G p.Ile528Val missense_variant possibly damaging SNU886 Missense Mutation RAB25 chr1 156035875 156035875 C T g.156035875C>T ENST00000361084.5 c.217C>T p.Arg73Trp missense_variant probably damaging SNU886 Missense Mutation NES chr1 156642838 156642838 C T g.156642838C>T ENST00000368223.3 c.1142G>A p.Arg381His missense_variant benign SNU886 Missense Mutation INSRR chr1 156811545 156811545 G A g.156811545G>A ENST00000368195.3 c.3439C>T p.Arg1147Cys missense_variant probably damaging SNU886 Missense Mutation CASP9 chr1 15844776 15844776 C A g.15844776C>A ENST00000333868.5 c.247G>T p.Asp83Tyr missense_variant benign SNU886 Missense Mutation OR6P1 chr1 158532668 158532668 C T g.158532668C>T ENST00000334632.1 c.727G>A p.Ala243Thr missense_variant benign SNU886 Missense Mutation IFI16 chr1 158986327 158986327 G C g.158986327G>C ENST00000295809.7 c.386G>C p.Arg129Thr missense_variant possibly damaging SNU886 Missense Mutation EPHA2 chr1 16460396 16460396 C T g.16460396C>T ENST00000358432.5 c.1697G>A p.Arg566His missense_variant benign SNU886 Missense Mutation MYOC chr1 171607843 171607843 G C g.171607843G>C ENST00000037502.6 c.624C>G p.Asp208Glu missense_variant benign SNU886 Missense Mutation SUCO chr1 172579359 172579359 T C g.172579359T>C ENST00000263688.3 c.3725T>C p.Val1242Ala missense_variant probably damaging SNU886 Missense Mutation TNR chr1 175293533 175293533 T A g.175293533T>A ENST00000263525.2 c.3916A>T p.Thr1306Ser missense_variant benign SNU886 Missense Mutation IVNS1ABP chr1 185268931 185268931 A C g.185268931A>C ENST00000367498.3 c.1586T>G p.Val529Gly missense_variant probably damaging SNU886 Missense Mutation IPO9 chr1 201824932 201824932 A G g.201824932A>G ENST00000361565.4 c.992A>G p.Asn331Ser missense_variant benign SNU886 Missense Mutation FAIM3 chr1 207078414 207078414 C T g.207078414C>T ENST00000367091.3 c.1123G>A p.Ala375Thr missense_variant benign SNU886 Missense Mutation FAM71A chr1 212799238 212799238 C T g.212799238C>T ENST00000294829.3 c.1019C>T p.Thr340Met missense_variant benign SNU886 Missense Mutation USH2A chr1 215807934 215807934 A C g.215807934A>C ENST00000307340.3 c.15164T>G p.Leu5055Trp missense_variant probably damaging SNU886 Missense Mutation MARK1 chr1 220809273 220809273 C G g.220809273C>G ENST00000366917.4 c.1375C>G p.Arg459Gly missense_variant benign SNU886 Missense Mutation HSPG2 chr1 22176542 22176542 G A g.22176542G>A ENST00000374695.3 c.7438C>T p.R2480W missense_variant probably damaging SNU886 Missense Mutation ZBTB40 chr1 22837685 22837685 C T g.22837685C>T ENST00000375647.4 c.1847C>T p.Pro616Leu missense_variant benign SNU886 Missense Mutation C1QA chr1 22964167 22964167 A G g.22964167A>G ENST00000374642.3 c.58A>G p.Met20Val missense_variant benign SNU886 Missense Mutation RYR2 chr1 237777549 237777549 T G g.237777549T>G ENST00000366574.2 c.5121T>G p.Ile1707Met missense_variant probably damaging SNU886 Missense Mutation WDR64 chr1 241907713 241907713 G C g.241907713G>C ENST00000366552.2 c.1459G>C p.Gly487Arg missense_variant probably damaging SNU886 Missense Mutation STPG1 chr1 24700258 24700258 G C g.24700258G>C ENST00000337248.4 c.505C>G p.Arg169Gly missense_variant benign SNU886 Missense Mutation CNKSR1 chr1 26515965 26515965 C T g.26515965C>T ENST00000361530.6 c.2068C>T p.Pro690Ser missense_variant benign SNU886 Missense Mutation BAI2 chr1 32193079 32193079 C T g.32193079C>T ENST00000373658.3 c.4700G>A p.Arg1567Gln missense_variant possibly damaging SNU886 Missense Mutation MEGF6 chr1 3519090 3519090 G A g.3519090G>A ENST00000356575.4 c.206C>T p.Thr69Met missense_variant benign SNU886 Missense Mutation ZMYM1 chr1 35578909 35578909 A G g.35578909A>G ENST00000359858.4 c.1478A>G p.Glu493Gly missense_variant probably damaging SNU886 Missense Mutation DPH2 chr1 44437418 44437418 C T g.44437418C>T ENST00000255108.3 c.844C>T p.Arg282Cys missense_variant probably damaging SNU886 Missense Mutation PGM1 chr1 64059362 64059362 A T g.64059362A>T ENST00000371084.3 c.203A>T p.Lys68Met missense_variant benign SNU886 Missense Mutation IL23R chr1 67648538 67648538 T A g.67648538T>A ENST00000347310.5 c.387T>A p.Asp129Glu missense_variant benign SNU886 Missense Mutation IL12RB2 chr1 67816745 67816745 A G g.67816745A>G ENST00000262345.1 c.1231A>G p.Ile411Val missense_variant benign SNU886 Missense Mutation CAMTA1 chr1 7700526 7700526 G A g.7700526G>A ENST00000303635.7 c.577G>A p.Gly193Ser missense_variant probably damaging SNU886 Missense Mutation ZZZ3 chr1 78031863 78031863 C T g.78031863C>T ENST00000370801.3 c.2470G>A p.Asp824Asn missense_variant probably damaging SNU886 Missense Mutation WDR63 chr1 85559179 85559179 C T g.85559179C>T ENST00000294664.6 c.896C>T p.Thr299Ile missense_variant benign SNU886 Missense Mutation CLCA1 chr1 86954838 86954838 C A g.86954838C>A ENST00000234701.3 c.1342C>A p.Leu448Met missense_variant benign SNU886 Missense Mutation SAMD11 chr1 874781 874781 T A g.874781T>A ENST00000342066.3 c.647T>A p.Leu216His missense_variant probably damaging SNU886 Missense Mutation KLHL17 chr1 899374 899374 G A g.899374G>A ENST00000338591.3 c.1430G>A p.Arg477Gln missense_variant probably damaging SNU886 Missense Mutation ZNF644 chr1 91406840 91406840 T C g.91406840T>C ENST00000337393.5 c.71A>G p.Asn24Ser missense_variant benign SNU886 Missense Mutation CHUK chr10 101978816 101978816 T C g.101978816T>C ENST00000370397.7 c.638A>G p.Glu213Gly missense_variant probably damaging SNU886 Missense Mutation NHLRC2 chr10 115618430 115618430 T C g.115618430T>C ENST00000369301.3 c.322T>C p.Ser108Pro missense_variant probably damaging SNU886 Missense Mutation RAB11FIP2 chr10 119768703 119768703 G T g.119768703G>T ENST00000355624.3 c.1345C>A p.Arg449Ser missense_variant benign SNU886 Missense Mutation TACC2 chr10 123846856 123846856 G A g.123846856G>A ENST00000334433.3 c.4841G>A p.Gly1614Asp missense_variant probably damaging SNU886 Missense Mutation CCDC168 chr13 103399409 103399409 A C g.103399409A>C NM_001146197.1 c.3638T>G p.Val1213Gly missense_variant unknown SNU886 Missense Mutation TET1 chr10 70333443 70333443 C G g.70333443C>G ENST00000373644.4 c.1348C>G p.Pro450Ala missense_variant probably damaging SNU886 Missense Mutation KIAA1279 chr10 70775651 70775651 C T g.70775651C>T ENST00000361983.4 c.1345C>T p.Arg449Cys missense_variant probably damaging SNU886 Missense Mutation CDH23 chr10 73405729 73405729 G A g.73405729G>A ENST00000224721.6 c.1297G>A p.Asp433Asn missense_variant possibly damaging SNU886 Missense Mutation CHST3 chr10 73767833 73767833 C G g.73767833C>G ENST00000373115.4 c.1044C>G p.Ile348Met missense_variant probably damaging SNU886 Missense Mutation BTAF1 chr10 93751878 93751878 T A g.93751878T>A ENST00000265990.6 c.2857T>A p.Ser953Thr (Splice) missense_variant,splice_region_variant benign SNU886 Missense Mutation AVPI1 chr10 99439650 99439650 C T g.99439650C>T ENST00000370626.3 c.13G>A p.Ala5Thr missense_variant probably damaging SNU886 Missense Mutation MAGEL2 chr15 23892774 23892774 G A g.23892774G>A NM_019066.4 c.116C>T p.Ala39Val missense_variant NA SNU886 Missense Mutation BARX2 chr11 129321241 129321241 C T g.129321241C>T ENST00000281437.4 c.784C>T p.Pro262Ser missense_variant benign SNU886 Missense Mutation LOC100652824 chr2 203055022 203055022 G A g.203055022G>A NM_001277372.1 c.2722G>A p.Glu908Lys missense_variant benign SNU886 Missense Mutation DCDC5 chr11 30937122 30937122 C T g.30937122C>T NM_020869.3 c.910G>A p.Val304Met missense_variant damaging SNU886 Missense Mutation ACP2 chr11 47269639 47269639 C T g.47269639C>T ENST00000256997.3 c.160G>A p.Asp54Asn missense_variant probably damaging SNU886 Missense Mutation MADD chr11 47330569 47330569 G A g.47330569G>A ENST00000311027.5 c.3907G>A p.Ala1303Thr missense_variant probably damaging SNU886 Missense Mutation PTPRJ chr11 48185119 48185119 G A g.48185119G>A ENST00000418331.2 c.3668G>A p.Arg1223His missense_variant possibly damaging SNU886 Missense Mutation OR8K1 chr11 56113995 56113995 G A g.56113995G>A ENST00000279783.2 c.481G>A p.Val161Met missense_variant possibly damaging SNU886 Missense Mutation LRRC55 chr11 56949600 56949600 G A g.56949600G>A ENST00000497933.1 c.233G>A p.Gly78Asp missense_variant possibly damaging SNU886 Missense Mutation OR4D6 chr11 59224452 59224452 A G g.59224452A>G ENST00000300127.2 c.19A>G p.Thr7Ala missense_variant possibly damaging SNU886 Missense Mutation VPS37C chr11 60899914 60899914 C T g.60899914C>T ENST00000301765.5 c.446G>A p.Arg149His missense_variant probably damaging SNU886 Missense Mutation CNGA4 chr11 6265373 6265373 G A g.6265373G>A ENST00000379936.2 c.1462G>A p.Ala488Thr missense_variant benign SNU886 Missense Mutation NRXN2 chr11 64428501 64428501 C A g.64428501C>A ENST00000265459.6 c.1909G>T p.Val637Leu missense_variant benign SNU886 Missense Mutation CDC42BPG chr11 64597090 64597090 C T g.64597090C>T ENST00000342711.5 c.3820G>A p.Gly1274Arg missense_variant probably damaging SNU886 Missense Mutation ZNHIT2 chr11 64884104 64884104 T A g.64884104T>A ENST00000310597.4 c.1022A>T p.Gln341Leu missense_variant benign SNU886 Missense Mutation MAP3K11 chr11 65367224 65367224 G A g.65367224G>A ENST00000309100.3 c.1847C>T p.Pro616Leu missense_variant possibly damaging SNU886 Missense Mutation SART1 chr11 65735252 65735252 A G g.65735252A>G ENST00000312397.5 c.1532A>G p.Gln511Arg missense_variant benign SNU886 Missense Mutation GAL3ST3 chr11 65810624 65810624 G A g.65810624G>A ENST00000312006.4 c.650C>T p.Pro217Leu missense_variant possibly damaging SNU886 Missense Mutation SYT12 chr11 66812170 66812170 A C g.66812170A>C ENST00000393946.2 c.944A>C p.Asp315Ala missense_variant benign SNU886 Missense Mutation IGHMBP2 chr11 68704300 68704300 G C g.68704300G>C ENST00000255078.3 c.2352G>C p.Lys784Asn missense_variant possibly damaging SNU886 Missense Mutation IGHMBP2 chr11 68704502 68704502 G C g.68704502G>C ENST00000255078.3 c.2554G>C p.Glu852Gln missense_variant benign SNU886 Missense Mutation ANKS1B chr12 100166756 100166756 C T g.100166756C>T ENST00000329257.7 c.1072G>A p.Asp358Asn missense_variant probably damaging SNU886 Missense Mutation C12orf42 chr12 103762691 103762691 C T g.103762691C>T ENST00000315192.8 c.233G>A p.Arg78His missense_variant benign SNU886 Missense Mutation BTBD11 chr12 108012141 108012141 A G g.108012141A>G ENST00000280758.5 c.2438A>G p.Asp813Gly missense_variant probably damaging SNU886 Missense Mutation PRDM4 chr12 108145411 108145411 G A g.108145411G>A ENST00000228437.5 c.907C>T p.Leu303Phe missense_variant probably damaging SNU886 Missense Mutation CORO1C chr12 109041188 109041188 T C g.109041188T>C ENST00000261401.3 c.1416A>G p.Ile472Met missense_variant benign SNU886 Missense Mutation ACACB chr12 109665186 109665186 G A g.109665186G>A ENST00000338432.7 c.3893G>A p.Arg1298Gln missense_variant probably damaging SNU886 Missense Mutation FBXW8 chr12 117426621 117426621 A G g.117426621A>G ENST00000309909.5 c.1186A>G p.Asn396Asp missense_variant benign SNU886 Missense Mutation ARL6IP4 chr12 123465008 123465008 C T g.123465008C>T ENST00000315580.5 c.74C>T p.Ala25Val missense_variant benign SNU886 Missense Mutation DDX55 chr12 124103253 124103253 C T g.124103253C>T ENST00000238146.4 c.1202C>T p.Ala401Val missense_variant benign SNU886 Missense Mutation DNAH10 chr12 124333389 124333389 C T g.124333389C>T ENST00000409039.3 c.5708C>T p.Thr1903Met missense_variant probably damaging SNU886 Missense Mutation DUSP16 chr12 12630924 12630924 T C g.12630924T>C ENST00000228862.2 c.841A>G p.Ile281Val missense_variant probably damaging SNU886 Missense Mutation EP400 chr12 132514298 132514298 C T g.132514298C>T ENST00000389562.2 c.5431C>T p.Pro1811Ser missense_variant benign SNU886 Missense Mutation ZNF26 chr12 133587016 133587016 G A g.133587016G>A ENST00000328654.5 c.551G>A p.Arg184His missense_variant possibly damaging SNU886 Missense Mutation PLEKHA5 chr12 19427830 19427830 G A g.19427830G>A ENST00000299275.6 c.1208G>A p.Arg403Gln missense_variant probably damaging SNU886 Missense Mutation ADAMTS20 chr12 43771176 43771176 A C g.43771176A>C ENST00000389420.3 c.4987T>G p.Trp1663Gly missense_variant probably damaging SNU886 Missense Mutation ARID2 chr12 46243935 46243935 G A g.46243935G>A ENST00000334344.6 c.2029G>A p.Val677Met missense_variant benign SNU886 Missense Mutation SLC38A4 chr12 47172402 47172402 C A g.47172402C>A ENST00000266579.4 c.875G>T p.Arg292Leu missense_variant benign SNU886 Missense Mutation OR6C75 chr12 55759000 55759000 A G g.55759000A>G ENST00000343399.3 c.106A>G p.Ser36Gly missense_variant benign SNU886 Missense Mutation OTOGL chr12 80714333 80714333 C T g.80714333C>T ENST00000458043.2 c.3907C>T p.His1303Tyr missense_variant damaging SNU886 Missense Mutation AICDA chr12 8756908 8756908 C T g.8756908C>T ENST00000229335.6 c.569G>A p.Arg190Gln missense_variant probably damaging SNU886 Missense Mutation TMTC3 chr12 88588786 88588786 G A g.88588786G>A ENST00000266712.6 c.2105G>A p.Arg702Gln missense_variant probably damaging SNU886 Missense Mutation A2M chr12 9260158 9260158 C G g.9260158C>G ENST00000318602.7 c.841G>C p.Glu281Gln missense_variant benign SNU886 Missense Mutation CARS2 chr13 111294676 111294676 C T g.111294676C>T ENST00000257347.4 c.1609G>A p.Gly537Ser missense_variant probably damaging SNU886 Missense Mutation FRY chr13 32839734 32839734 G A g.32839734G>A ENST00000380250.3 c.7927G>A p.Asp2643Asn missense_variant benign SNU886 Missense Mutation RFC3 chr13 34404865 34404865 G A g.34404865G>A ENST00000380071.3 c.583G>A p.Val195Met missense_variant probably damaging SNU886 Missense Mutation PCDH8 chr13 53421692 53421692 G T g.53421692G>T ENST00000338862.4 c.880C>A p.Arg294Ser missense_variant probably damaging SNU886 Missense Mutation TBC1D4 chr13 76055614 76055614 G A g.76055614G>A ENST00000377625.2 c.290C>T p.Pro97Leu missense_variant benign SNU886 Missense Mutation RNF219 chr13 79190436 79190436 G A g.79190436G>A ENST00000282003.6 c.1460C>T p.Thr487Met missense_variant possibly damaging SNU886 Missense Mutation OR6J1 chr14 23103212 23103212 C G g.23103212C>G ENST00000540461.1 c.505G>C p.G169R missense_variant NA SNU886 Missense Mutation RBM23 chr14 23371285 23371285 T C g.23371285T>C ENST00000359890.3 c.1150A>G p.Thr384Ala missense_variant benign SNU886 Missense Mutation TGM1 chr14 24728971 24728971 C T g.24728971C>T ENST00000206765.6 c.923G>A p.Arg308Gln missense_variant probably damaging SNU886 Missense Mutation HECTD1 chr14 31585659 31585659 G A g.31585659G>A ENST00000399332.1 c.5401C>T p.Pro1801Ser missense_variant probably damaging SNU886 Missense Mutation HECTD1 chr14 31637594 31637594 T C g.31637594T>C ENST00000399332.1 c.1532A>G p.Lys511Arg missense_variant possibly damaging SNU886 Missense Mutation RPL10L chr14 47120750 47120750 C A g.47120750C>A ENST00000298283.3 c.190G>T p.Ala64Ser missense_variant benign SNU886 Missense Mutation PLEK2 chr14 67862233 67862233 C T g.67862233C>T ENST00000216446.4 c.275G>A p.Arg92Gln missense_variant probably damaging SNU886 Missense Mutation SERPINA6 chr14 94780913 94780913 G A g.94780913G>A ENST00000341584.3 c.73C>T p.Pro25Ser missense_variant benign SNU886 Missense Mutation ATG2B chr14 96797857 96797857 G A g.96797857G>A ENST00000359933.4 c.1586C>T p.Thr529Met missense_variant probably damaging SNU886 Missense Mutation LRRK1 chr15 101593206 101593206 A G g.101593206A>G ENST00000388948.3 c.3769A>G p.Ile1257Val missense_variant probably damaging SNU886 Missense Mutation MKRN3 chr15 23811029 23811029 G A g.23811029G>A ENST00000314520.3 c.100G>A p.Val34Ile missense_variant benign SNU886 Missense Mutation SLC12A6 chr15 34538001 34538001 C A g.34538001C>A ENST00000354181.3 c.1717G>T p.Val573Phe missense_variant probably damaging SNU886 Missense Mutation EIF2AK4 chr15 40308719 40308719 A G g.40308719A>G ENST00000263791.5 c.3776A>G p.Lys1259Arg missense_variant benign SNU886 Missense Mutation PAK6 chr15 40558501 40558501 G C g.40558501G>C ENST00000260404.4 c.663G>C p.Lys221Asn missense_variant benign SNU886 Missense Mutation IVD chr15 40698054 40698054 G C g.40698054G>C ENST00000249760.2 c.26G>C p.Gly9Ala missense_variant benign SNU886 Missense Mutation BAHD1 chr15 40751111 40751111 G T g.40751111G>T ENST00000416165.1 c.448G>T p.Asp150Tyr missense_variant possibly damaging SNU886 Missense Mutation ZNF106 chr15 42749267 42749267 T C g.42749267T>C ENST00000263805.4 c.137A>G p.Asp46Gly missense_variant probably damaging SNU886 Missense Mutation MAP1A chr15 43820933 43820933 G A g.43820933G>A ENST00000300231.5 c.7262G>A p.Gly2421Asp missense_variant benign SNU886 Missense Mutation SPG11 chr15 44907675 44907675 A G g.44907675A>G ENST00000261866.7 c.2924T>C p.Leu975Pro missense_variant benign SNU886 Missense Mutation PYGO1 chr15 55839305 55839305 G A g.55839305G>A ENST00000302000.6 c.176C>T p.Pro59Leu missense_variant probably damaging SNU886 Missense Mutation NEDD4 chr15 56132908 56132908 T A g.56132908T>A ENST00000508342.1 c.3113A>T p.Gln1038Leu missense_variant probably damaging SNU886 Missense Mutation SLC24A1 chr15 65916443 65916443 C T g.65916443C>T ENST00000261892.6 c.25C>T p.Pro9Ser missense_variant benign SNU886 Missense Mutation CD276 chr15 74005293 74005293 C T g.74005293C>T ENST00000318443.5 c.1601C>T p.Ala534Val missense_variant benign SNU886 Missense Mutation LOXL1 chr15 74240187 74240187 A G g.74240187A>G ENST00000261921.7 c.1546A>G p.Ile516Val missense_variant probably damaging SNU886 Missense Mutation AKAP13 chr15 86123049 86123049 C A g.86123049C>A ENST00000361243.2 c.1750C>A p.Gln584Lys missense_variant benign SNU886 Missense Mutation AKAP13 chr15 86125041 86125041 A G g.86125041A>G ENST00000361243.2 c.3742A>G p.Ile1248Val missense_variant possibly damaging SNU886 Missense Mutation TICRR chr15 90168484 90168484 C G g.90168484C>G ENST00000268138.7 c.4943C>G p.Thr1648Ser missense_variant probably damaging SNU886 Missense Mutation FURIN chr15 91424531 91424531 T G g.91424531T>G ENST00000268171.3 c.1808T>G p.Phe603Cys missense_variant probably damaging SNU886 Missense Mutation IGF1R chr15 99460092 99460092 A T g.99460092A>T ENST00000268035.6 c.2188A>T p.Ile730Phe missense_variant benign SNU886 Missense Mutation ABCC6 chr16 16282707 16282707 G C g.16282707G>C ENST00000205557.7 c.1760C>G p.Ser587Cys missense_variant probably damaging SNU886 Missense Mutation SRRM2 chr16 2815810 2815810 C T g.2815810C>T ENST00000301740.8 c.5281C>T p.Arg1761Cys missense_variant probably damaging SNU886 Missense Mutation MYLPF chr16 30388010 30388010 A T g.30388010A>T ENST00000322861.7 c.347A>T p.Lys116Met missense_variant possibly damaging SNU886 Missense Mutation MYLK3 chr16 46766567 46766567 T G g.46766567T>G ENST00000394809.4 c.1015A>C p.Ile339Leu missense_variant benign SNU886 Missense Mutation HYDIN chr16 71065769 71065769 G C g.71065769G>C ENST00000321489.5 c.2581C>G p.Pro861Ala missense_variant benign SNU886 Missense Mutation TEX13C chrX 124454427 124454427 G A g.124454427G>A NM_001195272.1 c.459G>A p.Met153Ile missense_variant NA SNU886 Missense Mutation ADAMTS18 chr16 77359768 77359768 A G g.77359768A>G ENST00000282849.5 c.2027T>C p.Val676Ala missense_variant probably damaging SNU886 Missense Mutation GPR179 chr17 36491137 36491137 A C g.36491137A>C ENST00000342292.4 c.1424T>G p.Leu475Arg missense_variant probably damaging SNU886 Missense Mutation MLLT6 chr17 36868162 36868162 G C g.36868162G>C ENST00000325718.7 c.615G>C p.Met205Ile missense_variant benign SNU886 Missense Mutation NAGLU chr17 40695346 40695346 C T g.40695346C>T ENST00000225927.2 c.1322C>T p.Thr441Met missense_variant probably damaging SNU886 Missense Mutation ITGA2B chr17 42458006 42458006 G C g.42458006G>C ENST00000262407.5 c.1401C>G p.Ile467Met missense_variant possibly damaging SNU886 Missense Mutation HEATR6 chr17 58134531 58134531 G A g.58134531G>A ENST00000184956.6 c.1957C>T p.Leu653Phe missense_variant probably damaging SNU886 Missense Mutation WSCD1 chr17 5991336 5991336 G A g.5991336G>A ENST00000317744.5 c.454G>A p.Asp152Asn missense_variant benign SNU886 Missense Mutation TLK2 chr17 60678138 60678138 A T g.60678138A>T ENST00000346027.5 c.1677A>T p.Leu559Phe missense_variant probably damaging SNU886 Missense Mutation POLG2 chr17 62492912 62492912 C T g.62492912C>T ENST00000539111.2 c.175G>A p.Ala59Thr missense_variant benign SNU886 Missense Mutation BPTF chr17 65862725 65862725 C T g.65862725C>T ENST00000306378.6 c.1582C>T p.His528Tyr missense_variant benign SNU886 Missense Mutation TMEM104 chr17 72832236 72832236 C T g.72832236C>T ENST00000335464.5 c.901C>T p.Arg301Cys missense_variant probably damaging SNU886 Missense Mutation TSEN54 chr17 73518024 73518024 G A g.73518024G>A ENST00000333213.6 c.862G>A p.Val288Ile missense_variant benign SNU886 Missense Mutation GALK1 chr17 73754157 73754157 C T g.73754157C>T ENST00000225614.2 c.1159G>A p.Ala387Thr missense_variant probably damaging SNU886 Missense Mutation RIOK3 chr18 21054970 21054970 G C g.21054970G>C ENST00000339486.3 c.1072G>C p.Val358Leu missense_variant probably damaging SNU886 Missense Mutation LAMA3 chr18 21481103 21481103 T G g.21481103T>G ENST00000313654.9 c.6017T>G p.Ile2006Arg missense_variant probably damaging SNU886 Missense Mutation DSC1 chr18 28711708 28711708 C T g.28711708C>T ENST00000257197.3 c.2336G>A p.Ser779Asn missense_variant benign SNU886 Missense Mutation CDH7 chr18 63477173 63477173 C A g.63477173C>A ENST00000323011.3 c.444C>A p.Asp148Glu missense_variant probably damaging SNU886 Missense Mutation TMX3 chr18 66382187 66382187 C A g.66382187C>A ENST00000299608.2 c.32G>T p.Arg11Leu missense_variant benign SNU886 Missense Mutation DNMT1 chr19 10291061 10291061 G C g.10291061G>C ENST00000340748.4 c.410C>G p.Thr137Arg missense_variant possibly damaging SNU886 Missense Mutation PRKCSH chr19 11557973 11557973 G A g.11557973G>A ENST00000252455.2 c.847G>A p.Glu283Lys (Splice) missense_variant,splice_region_variant probably damaging SNU886 Missense Mutation NCAN chr19 19360665 19360665 A C g.19360665A>C ENST00000252575.6 c.3911A>C p.Lys1304Thr missense_variant probably damaging SNU886 Missense Mutation GPI chr19 34884660 34884660 C T g.34884660C>T ENST00000356487.5 c.893C>T p.Ser298Leu missense_variant benign SNU886 Missense Mutation NPHS1 chr19 36322557 36322557 G A g.36322557G>A ENST00000378910.5 c.3274C>T p.Arg1092Cys missense_variant probably damaging SNU886 Missense Mutation SPTBN4 chr19 41038581 41038581 G A g.41038581G>A ENST00000338932.3 c.3998G>A p.Arg1333Gln missense_variant probably damaging SNU886 Missense Mutation ZNF526 chr19 42729775 42729775 G A g.42729775G>A ENST00000301215.3 c.1220G>A p.Arg407His missense_variant probably damaging SNU886 Missense Mutation PLAUR chr19 44160657 44160657 G A g.44160657G>A ENST00000221264.4 c.446C>T p.Thr149Ile missense_variant possibly damaging SNU886 Missense Mutation ZNF296 chr19 45575671 45575671 C T g.45575671C>T ENST00000303809.2 c.616G>A p.Val206Met missense_variant benign SNU886 Missense Mutation FLT3LG chr19 49979789 49979789 C T g.49979789C>T ENST00000344019.3 c.308C>T p.Thr103Met missense_variant probably damaging SNU886 Missense Mutation ZNF816 chr19 53453166 53453166 T G g.53453166T>G ENST00000357666.4 c.1862A>C p.Tyr621Ser missense_variant probably damaging SNU886 Missense Mutation ZNF543 chr19 57840011 57840011 C A g.57840011C>A ENST00000321545.4 c.1181C>A p.Pro394His missense_variant probably damaging SNU886 Missense Mutation ZNF837 chr19 58880293 58880293 G T g.58880293G>T ENST00000427624.2 c.407C>A p.Ala136Glu missense_variant benign SNU886 Missense Mutation FBN3 chr19 8140232 8140232 G A g.8140232G>A ENST00000270509.2 c.7517C>T p.Pro2506Leu missense_variant probably damaging SNU886 Missense Mutation SLC5A7 chr2 108627063 108627063 C A g.108627063C>A ENST00000264047.2 c.1489C>A p.Leu497Ile missense_variant benign SNU886 Missense Mutation RANBP2 chr2 109382584 109382584 T A g.109382584T>A ENST00000283195.6 c.5589T>A p.His1863Gln missense_variant benign SNU886 Missense Mutation GTDC1 chr2 144765035 144765035 C A g.144765035C>A ENST00000241391.5 c.589G>T p.Val197Phe missense_variant benign SNU886 Missense Mutation TPO chr2 1499771 1499771 G A g.1499771G>A ENST00000329066.4 c.2017G>A p.Glu673Lys missense_variant probably damaging SNU886 Missense Mutation LYPD6 chr2 150325272 150325272 G A g.150325272G>A ENST00000334166.4 c.331G>A p.Glu111Lys missense_variant benign SNU886 Missense Mutation NFE2L2 chr2 178095985 178095985 C T g.178095985C>T ENST00000397062.3 c.1346G>A p.Arg449His missense_variant probably damaging SNU886 Missense Mutation TTN chr2 179392469 179392469 A G g.179392469A>G ENST00000591111.1 c.102461T>C p.Val34154Ala missense_variant benign SNU886 Missense Mutation TTN chr2 179419365 179419365 A T g.179419365A>T ENST00000591111.1 c.83786T>A p.Ile27929Asn missense_variant probably damaging SNU886 Missense Mutation NBEAL1 chr2 203996741 203996741 A C g.203996741A>C ENST00000449802.1 c.3523A>C p.Lys1175Gln missense_variant probably damaging SNU886 Missense Mutation PTH2R chr2 209309544 209309544 A G g.209309544A>G ENST00000272847.2 c.785A>G p.His262Arg missense_variant probably damaging SNU886 Missense Mutation ALPP chr2 233244325 233244325 G A g.233244325G>A ENST00000392027.2 c.412G>A p.Ala138Thr missense_variant probably damaging SNU886 Missense Mutation MSH2 chr2 47703697 47703697 G A g.47703697G>A ENST00000233146.2 c.2197G>A p.Ala733Thr missense_variant probably damaging SNU886 Missense Mutation ANTXR1 chr2 69304547 69304547 G A g.69304547G>A ENST00000303714.4 c.569G>A p.Arg190Gln missense_variant probably damaging SNU886 Missense Mutation TMEM131 chr2 98375414 98375414 G A g.98375414G>A ENST00000186436.5 c.5309C>T p.Ala1770Val missense_variant benign SNU886 Missense Mutation LIPT1 chr2 99779133 99779133 A G g.99779133A>G ENST00000340066.1 c.713A>G p.Tyr238Cys missense_variant benign SNU886 Missense Mutation VSX1 chr20 25060123 25060123 T C g.25060123T>C ENST00000376707.3 c.452A>G p.Asn151Ser missense_variant benign SNU886 Missense Mutation ITCH chr20 33001595 33001595 A G g.33001595A>G ENST00000262650.6 c.385A>G p.Thr129Ala missense_variant benign SNU886 Missense Mutation ZNF335 chr20 44578468 44578468 C T g.44578468C>T ENST00000322927.2 c.3640G>A p.Val1214Ile missense_variant probably damaging SNU886 Missense Mutation PREX1 chr20 47260987 47260987 T G g.47260987T>G ENST00000371941.3 c.3561A>C p.Arg1187Ser missense_variant probably damaging SNU886 Missense Mutation LRRN4 chr20 6022425 6022425 G C g.6022425G>C ENST00000378858.4 c.1466C>G p.Ser489Trp missense_variant benign SNU886 Missense Mutation LAMA5 chr20 60887076 60887076 C T g.60887076C>T ENST00000252999.3 c.9535G>A p.Gly3179Ser missense_variant probably damaging SNU886 Missense Mutation HELZ2 chr20 62200688 62200688 C T g.62200688C>T ENST00000467148.1 c.901G>A p.Val301Met missense_variant probably damaging SNU886 Missense Mutation RBM11 chr21 15596815 15596815 A G g.15596815A>G ENST00000400577.3 c.389A>G p.Asn130Ser missense_variant possibly damaging SNU886 Missense Mutation DGCR2 chr22 19052446 19052446 A G g.19052446A>G ENST00000263196.7 c.463T>C p.Phe155Leu missense_variant probably damaging SNU886 Missense Mutation DGCR8 chr22 20094896 20094896 G A g.20094896G>A ENST00000351989.3 c.2099G>A p.Arg700His missense_variant probably damaging SNU886 Missense Mutation NR2E3 chr15 72104192 72104192 C T g.72104192C>T NM_014249.3 c.332C>T p.A111V missense_variant benign SNU886 Missense Mutation CCDC157 chr22 30772305 30772305 C A g.30772305C>A ENST00000338306.3 c.1915C>A p.Pro639Thr missense_variant benign SNU886 Missense Mutation SLC5A1 chr22 32439365 32439365 G A g.32439365G>A ENST00000266088.4 c.97G>A p.Val33Ile missense_variant benign SNU886 Missense Mutation ISX chr22 35478600 35478600 C T g.35478600C>T ENST00000308700.6 c.319C>T p.Pro107Ser missense_variant probably damaging SNU886 Missense Mutation TOM1 chr22 35741775 35741775 G A g.35741775G>A ENST00000411850.1 c.1282G>A p.Val428Met (Splice) missense_variant,splice_region_variant possibly damaging SNU886 Missense Mutation MFNG chr22 37875394 37875394 G A g.37875394G>A ENST00000356998.3 c.550C>T p.His184Tyr missense_variant possibly damaging SNU886 Missense Mutation SEPT3 chr22 42390746 42390746 G A g.42390746G>A ENST00000396425.3 c.1039G>A p.Asp347Asn missense_variant benign SNU886 Missense Mutation PKDREJ chr22 46656218 46656218 A G g.46656218A>G ENST00000253255.5 c.3002T>C p.Ile1001Thr missense_variant probably damaging SNU886 Missense Mutation MIOX chr22 50927689 50927689 G A g.50927689G>A ENST00000216075.6 c.551G>A p.Gly184Glu missense_variant probably damaging SNU886 Missense Mutation BOC chr3 112997523 112997523 G A g.112997523G>A ENST00000355385.3 c.1706G>A p.Arg569Gln missense_variant probably damaging SNU886 Missense Mutation QTRTD1 chr3 113789551 113789551 C T g.113789551C>T ENST00000281273.4 c.412C>T p.Pro138Ser missense_variant probably damaging SNU886 Missense Mutation MAATS1 chr3 119459516 119459516 C T g.119459516C>T ENST00000273390.5 c.1654C>T p.Arg552Trp missense_variant probably damaging SNU886 Missense Mutation MCM2 chr3 127327298 127327298 G A g.127327298G>A ENST00000265056.7 c.1175G>A p.Arg392His missense_variant probably damaging SNU886 Missense Mutation FBLN2 chr3 13612633 13612633 C G g.13612633C>G ENST00000295760.7 c.778C>G p.Leu260Val missense_variant probably damaging SNU886 Missense Mutation OTOL1 chr3 161214895 161214895 T A g.161214895T>A ENST00000327928.4 c.300T>A p.Asn100Lys missense_variant probably damaging SNU886 Missense Mutation HTR3D chr3 183754557 183754557 C T g.183754557C>T ENST00000382489.3 c.533C>T p.Ser178Phe missense_variant benign SNU886 Missense Mutation MAP3K13 chr3 185155327 185155327 G A g.185155327G>A ENST00000265026.3 c.568G>A p.Glu190Lys missense_variant benign SNU886 Missense Mutation TNK2 chr3 195595493 195595493 C T g.195595493C>T ENST00000333602.6 c.1631G>A p.Arg544Gln missense_variant probably damaging SNU886 Missense Mutation NEK10 chr3 27385818 27385818 G A g.27385818G>A ENST00000341435.5 c.307C>T p.Arg103Cys missense_variant possibly damaging SNU886 Missense Mutation TGFBR2 chr3 30713292 30713292 C T g.30713292C>T ENST00000295754.5 c.617C>T p.Thr206Met missense_variant possibly damaging SNU886 Missense Mutation ENTPD3 chr3 40464368 40464368 A G g.40464368A>G ENST00000301825.3 c.859A>G p.Asn287Asp missense_variant probably damaging SNU886 Missense Mutation USP4 chr3 49332003 49332003 C T g.49332003C>T ENST00000265560.4 c.1720G>A p.Gly574Ser missense_variant benign SNU886 Missense Mutation GPR27 chr3 71803505 71803505 C T g.71803505C>T ENST00000304411.2 c.305C>T p.Ala102Val missense_variant possibly damaging SNU886 Missense Mutation ROBO1 chr3 78719389 78719389 C A g.78719389C>A ENST00000464233.1 c.1405G>T p.Asp469Tyr missense_variant probably damaging SNU886 Missense Mutation COL8A1 chr3 99514883 99514883 G A g.99514883G>A ENST00000261037.3 c.2138G>A p.Arg713Gln missense_variant benign SNU886 Missense Mutation KIAA1109 chr4 123155969 123155969 G T g.123155969G>T ENST00000264501.4 c.3365G>T p.Arg1122Met missense_variant probably damaging SNU886 Missense Mutation MAML3 chr4 140640563 140640563 C G g.140640563C>G ENST00000509479.2 c.3331G>C p.G1111R missense_variant possibly damaging SNU886 Missense Mutation RNF150 chr4 142053596 142053596 T C g.142053596T>C ENST00000306799.3 c.367A>G p.Lys123Glu missense_variant benign SNU886 Missense Mutation NR3C2 chr4 149357564 149357564 C T g.149357564C>T ENST00000342437.4 c.449G>A p.Arg150His missense_variant,NMD_transcript_variant benign SNU886 Missense Mutation GLRB chr4 158091771 158091771 C G g.158091771C>G ENST00000264428.4 c.1385C>G p.Ala462Gly missense_variant benign SNU886 Missense Mutation NPY5R chr4 164272363 164272363 C A g.164272363C>A ENST00000338566.3 c.938C>A p.Pro313Gln missense_variant possibly damaging SNU886 Missense Mutation TKTL2 chr4 164393326 164393326 C G g.164393326C>G ENST00000280605.3 c.1561G>C p.Glu521Gln missense_variant benign SNU886 Missense Mutation FAT1 chr4 187521337 187521337 T C g.187521337T>C ENST00000441802.2 c.11818A>G p.Thr3940Ala missense_variant benign SNU886 Missense Mutation WFS1 chr4 6303881 6303881 G A g.6303881G>A ENST00000226760.1 c.2359G>A p.Ala787Thr missense_variant benign SNU886 Missense Mutation CDS1 chr4 85562063 85562063 G A g.85562063G>A ENST00000295887.5 c.952G>A p.Val318Met missense_variant benign SNU886 Missense Mutation SLC12A7 chr5 1076893 1076893 G A g.1076893G>A ENST00000264930.5 c.1664C>T p.Thr555Met missense_variant possibly damaging SNU886 Missense Mutation ZNF474 chr5 121488443 121488443 G A g.121488443G>A ENST00000296600.4 c.758G>A p.Arg253Gln missense_variant benign SNU886 Missense Mutation PCDHB6 chr5 140529841 140529841 G A g.140529841G>A ENST00000231136.1 c.3G>A p.Met1? start_lost possibly damaging SNU886 Missense Mutation ARHGAP26 chr5 142513538 142513538 A C g.142513538A>C ENST00000274498.4 c.1705A>C p.Asn569His missense_variant possibly damaging SNU886 Missense Mutation SLC6A3 chr5 1432658 1432658 C T g.1432658C>T ENST00000270349.9 c.574G>A p.Ala192Thr missense_variant benign SNU886 Missense Mutation SH3TC2 chr5 148407476 148407476 A G g.148407476A>G ENST00000504690.1 c.1819T>C p.Ser607Pro missense_variant,NMD_transcript_variant benign SNU886 Missense Mutation PPARGC1B chr5 149212406 149212406 C T g.149212406C>T ENST00000309241.5 c.770C>T p.Pro257Leu missense_variant benign SNU886 Missense Mutation FAT2 chr5 150947816 150947816 C T g.150947816C>T ENST00000261800.5 c.677G>A p.Arg226His missense_variant probably damaging SNU886 Missense Mutation CYFIP2 chr5 156742084 156742084 A T g.156742084A>T ENST00000521420.1 c.1260A>T p.E420D missense_variant probably damaging SNU886 Missense Mutation ZNF454 chr5 178392251 178392251 C G g.178392251C>G ENST00000320129.3 c.846C>G p.Ile282Met missense_variant probably damaging SNU886 Missense Mutation CCDC152 chr5 42783612 42783612 A G g.42783612A>G ENST00000361970.5 c.364A>G p.Met122Val missense_variant benign SNU886 Missense Mutation C5orf64 chr5 60999735 60999735 C T g.60999735C>T ENST00000313303.7 c.268C>T p.Pro90Ser missense_variant benign SNU886 Missense Mutation MAST4 chr5 66459743 66459743 A C g.66459743A>C ENST00000403625.2 c.4736A>C p.Lys1579Thr missense_variant benign SNU886 Missense Mutation COL4A3BP chr5 74712733 74712733 G A g.74712733G>A ENST00000261415.7 c.805C>T p.Arg269Cys missense_variant probably damaging SNU886 Missense Mutation WDR41 chr5 76734131 76734131 C T g.76734131C>T ENST00000296679.4 c.938G>A p.Arg313His missense_variant benign SNU886 Missense Mutation RHOBTB3 chr5 95128819 95128819 C G g.95128819C>G ENST00000379982.3 c.1777C>G p.Gln593Glu missense_variant benign SNU886 Missense Mutation REV3L chr6 111697010 111697010 T A g.111697010T>A ENST00000358835.3 c.2548A>T p.Thr850Ser missense_variant benign SNU886 Missense Mutation FAM26F chr6 116783127 116783127 T G g.116783127T>G ENST00000368605.1 c.35T>G p.Val12Gly missense_variant benign SNU886 Missense Mutation CLVS2 chr6 123369804 123369804 T A g.123369804T>A ENST00000275162.5 c.602T>A p.Val201Asp missense_variant probably damaging SNU886 Missense Mutation CNKSR3 chr6 154727567 154727567 G A g.154727567G>A ENST00000607772.1 c.1589C>T p.Ser530Phe missense_variant benign SNU886 Missense Mutation TRIM39 chr6 30297429 30297429 A G g.30297429A>G ENST00000376656.4 c.335A>G p.Glu112Gly missense_variant probably damaging SNU886 Missense Mutation C6orf222 chr6 36290193 36290193 G A g.36290193G>A ENST00000437635.2 c.1498C>T p.Pro500Ser missense_variant benign SNU886 Missense Mutation DNAH8 chr6 38704868 38704868 C A g.38704868C>A ENST00000359357.3 c.137C>A p.A46E missense_variant possibly damaging SNU886 Missense Mutation CUL9 chr6 43155145 43155145 A G g.43155145A>G ENST00000252050.4 c.1549A>G p.Ile517Val missense_variant benign SNU886 Missense Mutation CUL9 chr6 43163838 43163838 C T g.43163838C>T ENST00000252050.4 c.2420C>T p.Ser807Leu missense_variant benign SNU886 Missense Mutation ABCC10 chr6 43406400 43406400 G C g.43406400G>C ENST00000372530.4 c.1994G>C p.Gly665Ala missense_variant probably damaging SNU886 Missense Mutation GIGYF1 chr7 100281512 100281512 A G g.100281512A>G ENST00000275732.5 c.1898T>C p.Met633Thr missense_variant possibly damaging SNU886 Missense Mutation MUC17 chr7 100685810 100685810 C T g.100685810C>T ENST00000306151.4 c.11113C>T p.Arg3705Cys missense_variant probably damaging SNU886 Missense Mutation RELN chr7 103191623 103191623 C T g.103191623C>T ENST00000343529.5 c.6193G>A p.Val2065Ile missense_variant benign SNU886 Missense Mutation RELN chr7 103243887 103243887 G A g.103243887G>A ENST00000343529.5 c.3197C>T p.Pro1066Leu missense_variant probably damaging SNU886 Missense Mutation FSCN3 chr7 127240344 127240344 A G g.127240344A>G ENST00000265825.5 c.1388A>G p.Asn463Ser missense_variant benign SNU886 Missense Mutation CHPF2 chr7 150935702 150935702 G A g.150935702G>A ENST00000035307.2 c.2254G>A p.Gly752Arg missense_variant probably damaging SNU886 Missense Mutation DPP6 chr7 154172033 154172033 A C g.154172033A>C ENST00000377770.3 c.368A>C p.Asn123Thr missense_variant benign SNU886 Missense Mutation HOXA9 chr7 27204621 27204621 C G g.27204621C>G ENST00000343483.6 c.456G>C p.Leu152Phe missense_variant benign SNU886 Missense Mutation NACAD chr7 45121724 45121724 T A g.45121724T>A ENST00000490531.2 c.4055A>T p.Glu1352Val missense_variant probably damaging SNU886 Missense Mutation IGFBP3 chr7 45954540 45954540 C T g.45954540C>T ENST00000275521.6 c.755G>A p.Arg252His missense_variant probably damaging SNU886 Missense Mutation EGFR chr7 55220326 55220326 G C g.55220326G>C ENST00000275493.2 c.716G>C p.Gly239Ala missense_variant probably damaging SNU886 Missense Mutation PMS2 chr7 6026958 6026958 C T g.6026958C>T ENST00000265849.7 c.1438G>A p.Gly480Arg missense_variant possibly damaging SNU886 Missense Mutation RHBDD2 chr7 75511222 75511222 G A g.75511222G>A ENST00000006777.6 c.254G>A p.Arg85His missense_variant benign SNU886 Missense Mutation PCLO chr7 82579165 82579165 T C g.82579165T>C ENST00000333891.9 c.10739A>G p.Tyr3580Cys missense_variant probably damaging SNU886 Missense Mutation ABRA chr8 107781766 107781766 C T g.107781766C>T ENST00000311955.3 c.653G>A p.Arg218His missense_variant probably damaging SNU886 Missense Mutation ZHX2 chr8 123963776 123963776 C T g.123963776C>T ENST00000314393.4 c.26C>T p.Thr9Ile missense_variant probably damaging SNU886 Missense Mutation DLC1 chr8 12952662 12952662 G T g.12952662G>T ENST00000276297.4 c.3260C>A p.Thr1087Lys missense_variant benign SNU886 Missense Mutation SGCZ chr8 13959926 13959926 T A g.13959926T>A ENST00000382080.1 c.703A>T p.Thr235Ser missense_variant benign SNU886 Missense Mutation ZC3H3 chr8 144557700 144557700 G A g.144557700G>A ENST00000262577.5 c.1771C>T p.Pro591Ser missense_variant benign SNU886 Missense Mutation TONSL chr8 145658982 145658982 C T g.145658982C>T ENST00000409379.3 c.3548G>A p.Ser1183Asn missense_variant benign SNU886 Missense Mutation ADAM28 chr8 24181391 24181391 A C g.24181391A>C ENST00000265769.4 c.765A>C p.Glu255Asp missense_variant probably damaging SNU886 Missense Mutation CDCA2 chr8 25317913 25317913 C G g.25317913C>G ENST00000330560.3 c.75C>G p.Phe25Leu missense_variant benign SNU886 Missense Mutation CSMD1 chr8 2832078 2832078 C T g.2832078C>T ENST00000537824.1 c.8635G>A p.Ala2879Thr missense_variant possibly damaging SNU886 Missense Mutation MBOAT4 chr8 29996208 29996208 G T g.29996208G>T ENST00000320542.3 c.184C>A p.Leu62Ile missense_variant possibly damaging SNU886 Missense Mutation TEX15 chr8 30704247 30704247 C T g.30704247C>T ENST00000256246.2 c.2287G>A p.Glu763Lys missense_variant benign SNU886 Missense Mutation RAB11FIP1 chr8 37730653 37730653 G C g.37730653G>C ENST00000330843.4 c.1667C>G p.Ser556Cys missense_variant benign SNU886 Missense Mutation PXDNL chr8 52287167 52287167 C G g.52287167C>G ENST00000356297.4 c.3682G>C p.Asp1228His missense_variant probably damaging SNU886 Missense Mutation UBXN2B chr8 59329482 59329482 T C g.59329482T>C ENST00000399598.2 c.158T>C p.Val53Ala missense_variant benign SNU886 Missense Mutation PLEKHF2 chr8 96166659 96166659 T G g.96166659T>G ENST00000315367.3 c.387T>G p.Cys129Trp missense_variant probably damaging SNU886 Missense Mutation CPQ chr8 97797165 97797165 C T g.97797165C>T ENST00000220763.5 c.40C>T p.Leu14Phe missense_variant benign SNU886 Missense Mutation POP1 chr8 99170423 99170423 C T g.99170423C>T ENST00000349693.3 c.2999C>T p.Ala1000Val missense_variant benign SNU886 Missense Mutation KIAA0368 chr9 114134859 114134859 T C g.114134859T>C ENST00000259335.4 c.4912A>G p.Ile1638Val missense_variant benign SNU886 Missense Mutation C9orf50 chr9 132375738 132375738 G T g.132375738G>T ENST00000372478.4 c.1019C>A p.Ser340Tyr missense_variant probably damaging SNU886 Missense Mutation C9orf50 chr9 132375739 132375739 A T g.132375739A>T ENST00000372478.4 c.1018T>A p.Ser340Thr missense_variant benign SNU886 Missense Mutation AL354898.1 chr9 133281351 133281351 G A g.133281351G>A ENST00000277491.7 c.700G>A p.A234T missense_variant probably damaging SNU886 Missense Mutation SLC34A3 chr9 140130758 140130758 C T g.140130758C>T ENST00000361134.2 c.1690C>T p.Arg564Cys missense_variant probably damaging SNU886 Missense Mutation ARRDC1 chr9 140507366 140507366 T C g.140507366T>C ENST00000371421.4 c.137T>C p.Ile46Thr missense_variant benign SNU886 Missense Mutation FANCG chr9 35076561 35076561 C T g.35076561C>T ENST00000378643.3 c.944G>A p.Ser315Asn missense_variant benign SNU886 Missense Mutation PSAT1 chr9 80912133 80912133 G T g.80912133G>T ENST00000347159.2 c.7G>T p.Ala3Ser missense_variant benign SNU886 Missense Mutation SEMA4D chr9 92003690 92003690 G A g.92003690G>A ENST00000339861.4 c.968C>T p.Ser323Leu missense_variant probably damaging SNU886 Missense Mutation F8 chrX 154159945 154159945 C A g.154159945C>A ENST00000360256.4 c.2120G>T p.Trp707Leu missense_variant probably damaging SNU886 Missense Mutation VSIG4 chrX 65242173 65242173 C T g.65242173C>T ENST00000374737.4 c.1132G>A p.Ala378Thr missense_variant benign MHCC97H Missense Mutation DFFA chr1 10532440 10532440 T G g.10532440T>G ENST00000377036.2 c.76A>C p.Asn26His missense_variant probably damaging MHCC97H Missense Mutation KCNA10 chr1 111061270 111061270 G A g.111061270G>A ENST00000369771.2 c.140C>T p.Ser47Phe missense_variant possibly damaging MHCC97H Missense Mutation MTOR chr1 11303303 11303303 T C g.11303303T>C ENST00000361445.4 c.1280A>G p.Glu427Gly missense_variant possibly damaging MHCC97H Missense Mutation HSD3B2 chr1 119962109 119962109 G A g.119962109G>A ENST00000369416.3 c.211G>A p.Ala71Thr missense_variant probably damaging MHCC97H Missense Mutation FLG chr1 152275687 152275687 C T g.152275687C>T ENST00000368799.1 c.11675G>A p.Arg3892Gln missense_variant benign MHCC97H Missense Mutation KIRREL chr1 158059580 158059580 T C g.158059580T>C ENST00000359209.6 c.1244T>C p.Ile415Thr missense_variant probably damaging MHCC97H Missense Mutation ADAMTS4 chr1 161168167 161168167 C T g.161168167C>T ENST00000367995.3 c.251G>A p.Arg84His missense_variant probably damaging MHCC97H Missense Mutation NADK chr1 1689870 1689870 G A g.1689870G>A ENST00000342348.5 c.101C>T p.Pro34Leu missense_variant benign MHCC97H Missense Mutation PADI3 chr1 17601154 17601154 C T g.17601154C>T ENST00000375460.3 c.1180C>T p.Arg394Trp missense_variant probably damaging MHCC97H Missense Mutation ASTN1 chr1 176983967 176983967 T G g.176983967T>G ENST00000367654.3 c.1507A>C p.Lys503Gln missense_variant probably damaging MHCC97H Missense Mutation CEP350 chr1 179983594 179983594 C G g.179983594C>G ENST00000367607.3 c.2006C>G p.Thr669Ser missense_variant benign MHCC97H Missense Mutation ASPM chr1 197072781 197072781 G T g.197072781G>T ENST00000367409.4 c.5600C>A p.Thr1867Lys missense_variant benign MHCC97H Missense Mutation CNTN2 chr1 205035721 205035721 C T g.205035721C>T ENST00000331830.4 c.1969C>T p.Arg657Trp missense_variant probably damaging MHCC97H Missense Mutation YOD1 chr1 207224365 207224365 G A g.207224365G>A ENST00000315927.4 c.11C>T p.Pro4Leu missense_variant benign MHCC97H Missense Mutation TRAF3IP3 chr1 209933481 209933481 C T g.209933481C>T ENST00000010338.4 c.97C>T p.Arg33Cys missense_variant probably damaging MHCC97H Missense Mutation ECE1 chr1 21584028 21584028 T C g.21584028T>C ENST00000374893.6 c.818A>G p.Glu273Gly missense_variant benign MHCC97H Missense Mutation USH2A chr1 216011364 216011364 G A g.216011364G>A ENST00000307340.3 c.9340C>T p.Pro3114Ser missense_variant benign MHCC97H Missense Mutation EDARADD chr1 236645902 236645902 G A g.236645902G>A ENST00000334232.4 c.601G>A p.Glu201Lys missense_variant possibly damaging MHCC97H Missense Mutation OR2T6 chr1 248551388 248551388 C A g.248551388C>A ENST00000355728.2 c.479C>A p.Thr160Asn missense_variant probably damaging MHCC97H Missense Mutation PAQR7 chr1 26190039 26190039 A T g.26190039A>T ENST00000374296.3 c.292T>A p.Phe98Ile missense_variant probably damaging MHCC97H Missense Mutation CSMD2 chr1 34090222 34090222 G T g.34090222G>T ENST00000241312.4 c.5402C>A p.Thr1801Lys missense_variant,NMD_transcript_variant probably damaging MHCC97H Missense Mutation MPL chr1 43814548 43814548 C G g.43814548C>G ENST00000372470.3 c.1343C>G p.Thr448Ser missense_variant benign MHCC97H Missense Mutation INADL chr1 62288738 62288738 A C g.62288738A>C ENST00000316485.6 c.1805A>C p.Asp602Ala missense_variant probably damaging MHCC97H Missense Mutation PGM1 chr1 64089396 64089396 A G g.64089396A>G ENST00000371083.4 c.265A>G p.Ile89Val missense_variant benign MHCC97H Missense Mutation CA6 chr1 9017223 9017223 G C g.9017223G>C ENST00000377436.3 c.287G>C p.Arg96Pro missense_variant possibly damaging MHCC97H Missense Mutation EPHX4 chr1 92528837 92528837 A T g.92528837A>T ENST00000370383.4 c.1083A>T p.Lys361Asn missense_variant benign MHCC97H Missense Mutation CNNM1 chr10 101089622 101089622 G A g.101089622G>A ENST00000356713.4 c.478G>A p.Val160Ile missense_variant probably damaging MHCC97H Missense Mutation PDZD7 chr10 102783245 102783245 G A g.102783245G>A ENST00000370215.3 c.490C>T p.Arg164Trp missense_variant probably damaging MHCC97H Missense Mutation NRAP chr10 115364513 115364513 A T g.115364513A>T ENST00000359988.3 c.4082T>A p.Met1361Lys missense_variant benign MHCC97H Missense Mutation PDZD8 chr10 119044778 119044778 G A g.119044778G>A ENST00000334464.5 c.1466C>T p.Thr489Ile missense_variant benign MHCC97H Missense Mutation DMBT1 chr10 124333243 124333243 C T g.124333243C>T ENST00000330163.4 c.248C>T p.Pro83Leu missense_variant benign MHCC97H Missense Mutation CTBP2 chr10 126715200 126715200 C T g.126715200C>T ENST00000309035.6 c.1129G>A p.Glu377Lys missense_variant probably damaging MHCC97H Missense Mutation GLRX3 chr10 131943533 131943533 G A g.131943533G>A ENST00000331244.5 c.151G>A p.Glu51Lys missense_variant benign MHCC97H Missense Mutation MTG1 chr10 135207774 135207774 G A g.135207774G>A ENST00000317502.6 c.50G>A p.Arg17Gln missense_variant probably damaging MHCC97H Missense Mutation MLLT10 chr10 21959466 21959466 A G g.21959466A>G ENST00000307729.7 c.884A>G p.Gln295Arg missense_variant possibly damaging MHCC97H Missense Mutation OR13A1 chr10 45799197 45799197 C T g.45799197C>T ENST00000374401.2 c.674G>A p.Gly225Asp missense_variant benign MHCC97H Missense Mutation RBP3 chr10 48389623 48389623 C T g.48389623C>T ENST00000224600.4 c.1255G>A p.Glu419Lys missense_variant probably damaging MHCC97H Missense Mutation CHAT chr10 50854610 50854610 G A g.50854610G>A ENST00000337653.2 c.1171G>A p.Asp391Asn missense_variant probably damaging MHCC97H Missense Mutation PCBD1 chr10 72643759 72643759 C T g.72643759C>T ENST00000299299.3 c.263G>A p.Arg88Gln missense_variant possibly damaging MHCC97H Missense Mutation DYDC2 chr10 82126496 82126496 A G g.82126496A>G ENST00000256039.2 c.323A>G p.Asp108Gly missense_variant benign MHCC97H Missense Mutation KIF20B chr10 91522579 91522579 A T g.91522579A>T ENST00000260753.4 c.4856A>T p.Asn1619Ile missense_variant possibly damaging MHCC97H Missense Mutation CC2D2B chr10 97776043 97776043 T C g.97776043T>C ENST00000344386.3 c.494T>C p.Leu165Pro missense_variant possibly damaging MHCC97H Missense Mutation TLL2 chr10 98136474 98136474 G A g.98136474G>A ENST00000357947.3 c.2423C>T p.Ser808Leu missense_variant possibly damaging MHCC97H Missense Mutation IFT46 chr11 118428550 118428550 G C g.118428550G>C ENST00000264020.2 c.101C>G p.Pro34Arg missense_variant benign MHCC97H Missense Mutation SORL1 chr11 121385003 121385003 G T g.121385003G>T ENST00000260197.7 c.1184G>T p.Gly395Val missense_variant possibly damaging MHCC97H Missense Mutation OR8B2 chr11 124252546 124252546 G T g.124252546G>T ENST00000375013.2 c.694C>A p.Gln232Lys missense_variant probably damaging MHCC97H Missense Mutation PANX3 chr11 124482927 124482927 C T g.124482927C>T ENST00000284288.2 c.233C>T p.Ala78Val missense_variant benign MHCC97H Missense Mutation HEPACAM chr11 124792313 124792313 G A g.124792313G>A ENST00000298251.4 c.919C>T p.Pro307Ser missense_variant probably damaging MHCC97H Missense Mutation STT3A chr11 125465859 125465859 C T g.125465859C>T ENST00000392708.4 c.49C>T p.Leu17Phe missense_variant benign MHCC97H Missense Mutation ST14 chr11 130067759 130067759 C G g.130067759C>G ENST00000278742.5 c.1378C>G p.Arg460Gly missense_variant benign MHCC97H Missense Mutation TTC17 chr11 43400795 43400795 A G g.43400795A>G ENST00000039989.4 c.172A>G p.Met58Val missense_variant benign MHCC97H Missense Mutation TRIM22 chr11 5730792 5730792 G A g.5730792G>A ENST00000379965.3 c.1411G>A p.Gly471Arg missense_variant benign MHCC97H Missense Mutation METTL12 chr11 62434225 62434225 A T g.62434225A>T ENST00000532971.1 c.425A>T p.His142Leu missense_variant benign MHCC97H Missense Mutation TIGD3 chr11 65124691 65124691 T C g.65124691T>C ENST00000309880.5 c.1412T>C p.Leu471Pro missense_variant benign MHCC97H Missense Mutation SART1 chr11 65732638 65732638 G A g.65732638G>A ENST00000312397.5 c.503G>A p.Arg168Gln missense_variant probably damaging MHCC97H Missense Mutation DEAF1 chr11 691555 691555 G C g.691555G>C ENST00000338675.6 c.333C>G p.Asp111Glu missense_variant benign MHCC97H Missense Mutation P2RY6 chr11 73007624 73007624 C T g.73007624C>T ENST00000349767.2 c.61C>T p.Arg21Cys missense_variant possibly damaging MHCC97H Missense Mutation NDUFC2 chr11 77781037 77781037 C T g.77781037C>T ENST00000281031.4 c.356G>A p.Arg119His missense_variant benign MHCC97H Missense Mutation TENM4 chr11 78600940 78600940 C T g.78600940C>T ENST00000278550.7 c.974G>A p.Arg325Gln missense_variant probably damaging MHCC97H Missense Mutation CCDC83 chr11 85597248 85597248 C T g.85597248C>T ENST00000280245.4 c.349C>T p.Arg117Cys missense_variant possibly damaging MHCC97H Missense Mutation MED17 chr11 93517899 93517899 G A g.93517899G>A ENST00000251871.3 c.220G>A p.Gly74Arg missense_variant possibly damaging MHCC97H Missense Mutation GNPTAB chr12 102147180 102147180 C T g.102147180C>T ENST00000299314.7 c.3572G>A p.Arg1191His missense_variant probably damaging MHCC97H Missense Mutation SSH1 chr12 109182927 109182927 C T g.109182927C>T ENST00000326495.5 c.1987G>A p.Ala663Thr missense_variant benign MHCC97H Missense Mutation ACACB chr12 109684182 109684182 C T g.109684182C>T ENST00000338432.7 c.5500C>T p.Arg1834Cys missense_variant benign MHCC97H Missense Mutation SLC8B1 chr12 113754444 113754444 G C g.113754444G>C ENST00000202831.3 c.880C>G p.Leu294Val missense_variant benign MHCC97H Missense Mutation POLE chr12 133214646 133214646 G A g.133214646G>A ENST00000320574.5 c.5632C>T p.Arg1878Cys missense_variant probably damaging MHCC97H Missense Mutation LYRM5 chr12 25357185 25357185 T G g.25357185T>G ENST00000381356.4 c.212T>G p.Phe71Cys missense_variant probably damaging MHCC97H Missense Mutation ADAMTS20 chr12 43771248 43771248 C G g.43771248C>G ENST00000389420.3 c.4915G>C p.Val1639Leu missense_variant benign MHCC97H Missense Mutation KRT80 chr12 52566851 52566851 G A g.52566851G>A ENST00000313234.5 c.928C>T p.Arg310Trp missense_variant probably damaging MHCC97H Missense Mutation ARHGAP9 chr12 57867953 57867953 C T g.57867953C>T ENST00000356411.2 c.1847G>A p.Arg616Gln missense_variant benign MHCC97H Missense Mutation PTPRQ chr12 80981978 80981978 A T g.80981978A>T ENST00000266688.5 c.4344A>T p.R1448S missense_variant benign MHCC97H Missense Mutation GRK1 chr13 114438256 114438256 G A g.114438256G>A ENST00000335678.6 c.1612G>A p.G538S missense_variant probably damaging MHCC97H Missense Mutation MTUS2 chr13 29600196 29600196 A T g.29600196A>T ENST00000431530.3 c.1391A>T p.Glu464Val missense_variant benign MHCC97H Missense Mutation FRY chr13 32839620 32839620 G A g.32839620G>A ENST00000380250.3 c.7813G>A p.Val2605Met missense_variant possibly damaging MHCC97H Missense Mutation BRCA2 chr13 32906826 32906826 A G g.32906826A>G ENST00000380152.3 c.1211A>G p.Asn404Ser missense_variant benign MHCC97H Missense Mutation CSNK1A1L chr13 37678661 37678661 C G g.37678661C>G ENST00000379800.3 c.733G>C p.Val245Leu missense_variant benign MHCC97H Missense Mutation POSTN chr13 38144735 38144735 C T g.38144735C>T ENST00000379747.4 c.2251G>A p.Glu751Lys missense_variant possibly damaging MHCC97H Missense Mutation RTL1 chr14 101347474 101347474 G A g.101347474G>A ENST00000534062.1 c.3652C>T p.Arg1218Cys missense_variant probably damaging MHCC97H Missense Mutation DYNC1H1 chr14 102452190 102452190 C T g.102452190C>T ENST00000360184.4 c.1628C>T p.Thr543Met missense_variant benign MHCC97H Missense Mutation AHNAK2 chr14 105408208 105408208 A T g.105408208A>T ENST00000333244.5 c.13580T>A p.Val4527Glu missense_variant probably damaging MHCC97H Missense Mutation RPGRIP1 chr14 21756212 21756212 C T g.21756212C>T ENST00000206660.6 c.77C>T p.Ala26Val missense_variant benign MHCC97H Missense Mutation LRFN5 chr14 42361042 42361042 G A g.42361042G>A ENST00000298119.4 c.1975G>A p.Ala659Thr missense_variant benign MHCC97H Missense Mutation KLHDC2 chr14 50244651 50244651 G C g.50244651G>C ENST00000298307.5 c.446G>C p.Gly149Ala missense_variant probably damaging MHCC97H Missense Mutation FBXO34 chr14 55817908 55817908 T G g.55817908T>G ENST00000313833.4 c.800T>G p.Leu267Arg missense_variant benign MHCC97H Missense Mutation DAAM1 chr14 59819337 59819337 T C g.59819337T>C ENST00000351081.1 c.2284T>C p.Phe762Leu missense_variant possibly damaging MHCC97H Missense Mutation ELMSAN1 chr14 74189490 74189490 T G g.74189490T>G ENST00000286523.5 c.2635A>C p.Lys879Gln missense_variant probably damaging MHCC97H Missense Mutation RPS6KL1 chr14 75385274 75385274 G T g.75385274G>T ENST00000358328.4 c.425C>A p.T142K missense_variant damaging MHCC97H Missense Mutation ALKBH1 chr14 78174293 78174293 C T g.78174293C>T ENST00000216489.3 c.55G>A p.Gly19Arg missense_variant benign MHCC97H Missense Mutation EML5 chr14 89220927 89220927 G T g.89220927G>T ENST00000352093.5 c.286C>A p.Gln96Lys missense_variant possibly damaging MHCC97H Missense Mutation NRDE2 chr14 90782967 90782967 G T g.90782967G>T ENST00000354366.3 c.362C>A p.Pro121His missense_variant benign MHCC97H Missense Mutation BDKRB2 chr14 96707719 96707719 C A g.96707719C>A ENST00000306005.3 c.1054C>A p.Gln352Lys missense_variant benign MHCC97H Missense Mutation CYFIP1 chr15 23002936 23002936 A G g.23002936A>G ENST00000313077.7 c.3658A>G p.Thr1220Ala missense_variant benign MHCC97H Missense Mutation RYR3 chr15 34130198 34130198 C G g.34130198C>G ENST00000389232.4 c.12017C>G p.Pro4006Arg missense_variant probably damaging MHCC97H Missense Mutation BAHD1 chr15 40756215 40756215 G T g.40756215G>T ENST00000416165.1 c.1971G>T p.Glu657Asp missense_variant benign MHCC97H Missense Mutation STARD9 chr15 42967033 42967033 G A g.42967033G>A ENST00000290607.7 c.1558G>A p.Gly520Ser missense_variant damaging MHCC97H Missense Mutation MYEF2 chr15 48458176 48458176 G C g.48458176G>C ENST00000267836.6 c.479C>G p.Thr160Ser missense_variant possibly damaging MHCC97H Missense Mutation PIGB chr15 55631514 55631514 C G g.55631514C>G ENST00000164305.5 c.844C>G p.Gln282Glu (Splice) missense_variant,splice_region_variant benign MHCC97H Missense Mutation FAM63B chr15 59063806 59063806 G C g.59063806G>C ENST00000316848.5 c.212G>C p.Gly71Ala missense_variant,NMD_transcript_variant benign MHCC97H Missense Mutation IQCH chr15 67665804 67665804 A C g.67665804A>C NM_001284349.1 c.886A>C p.Thr296Pro missense_variant probably damaging MHCC97H Missense Mutation ADAMTSL3 chr15 84566727 84566727 G T g.84566727G>T ENST00000286744.5 c.1585G>T p.Val529Phe missense_variant possibly damaging MHCC97H Missense Mutation KIF7 chr15 90191887 90191887 T C g.90191887T>C ENST00000394412.3 c.1042A>G p.Asn348Asp missense_variant benign MHCC97H Missense Mutation CIITA chr16 11000917 11000917 G C g.11000917G>C ENST00000324288.8 c.1568G>C p.Cys523Ser missense_variant benign MHCC97H Missense Mutation MYH11 chr16 15813083 15813083 G A g.15813083G>A ENST00000300036.5 c.5165C>T p.Ser1722Leu missense_variant benign MHCC97H Missense Mutation MYH11 chr16 15820838 15820838 A G g.15820838A>G ENST00000300036.5 c.3725T>C p.Val1242Ala missense_variant benign MHCC97H Missense Mutation NUBP2 chr16 1837960 1837960 G A g.1837960G>A ENST00000262302.9 c.508G>A p.Val170Met missense_variant probably damaging MHCC97H Missense Mutation GPRC5B chr16 19871832 19871832 T G g.19871832T>G ENST00000300571.2 c.1202A>C p.His401Pro missense_variant probably damaging MHCC97H Missense Mutation PKD1 chr16 2159575 2159575 G A g.2159575G>A ENST00000262304.4 c.5593C>T p.Arg1865Trp missense_variant benign MHCC97H Missense Mutation PKMYT1 chr16 3025504 3025504 C T g.3025504C>T ENST00000262300.8 c.688G>A p.Val230Met missense_variant possibly damaging MHCC97H Missense Mutation PPL chr16 4942126 4942126 C G g.4942126C>G ENST00000345988.2 c.1739G>C p.Ser580Thr missense_variant benign MHCC97H Missense Mutation RPGRIP1L chr16 53730122 53730122 C A g.53730122C>A ENST00000262135.4 c.171G>T p.Leu57Phe missense_variant probably damaging MHCC97H Missense Mutation ZFHX3 chr16 72991763 72991763 C G g.72991763C>G ENST00000268489.5 c.2282G>C p.Gly761Ala missense_variant possibly damaging MHCC97H Missense Mutation C16orf46 chr16 81094902 81094902 C T g.81094902C>T ENST00000299578.5 c.1052G>A p.Arg351Gln missense_variant benign MHCC97H Missense Mutation TLDC1 chr16 84531664 84531664 C T g.84531664C>T ENST00000343629.6 c.29G>A p.Arg10Gln missense_variant benign MHCC97H Missense Mutation LOC100506388 chr17 182868 182868 A C g.182868A>C NM_001242780.1 c.253A>C p.Lys85Gln missense_variant NA MHCC97H Missense Mutation ERAL1 chr17 27182195 27182195 C T g.27182195C>T ENST00000254928.5 c.143C>T p.Ala48Val missense_variant benign MHCC97H Missense Mutation UNC45B chr17 33482457 33482457 G A g.33482457G>A ENST00000268876.5 c.782G>A p.Arg261Gln missense_variant possibly damaging MHCC97H Missense Mutation ATP2A3 chr17 3831314 3831314 C T g.3831314C>T ENST00000359983.3 c.3100G>A p.Val1034Ile missense_variant benign MHCC97H Missense Mutation KRT26 chr17 38923858 38923858 T A g.38923858T>A ENST00000335552.4 c.1235A>T p.Asn412Ile missense_variant benign MHCC97H Missense Mutation ACLY chr17 40058009 40058009 T C g.40058009T>C ENST00000352035.2 c.1123A>G p.Ile375Val missense_variant benign MHCC97H Missense Mutation COL1A1 chr17 48265894 48265894 C A g.48265894C>A ENST00000225964.5 c.3204G>T p.Glu1068Asp missense_variant probably damaging MHCC97H Missense Mutation KIF1C chr17 4910805 4910805 G A g.4910805G>A ENST00000320785.5 c.1459G>A p.Gly487Arg missense_variant probably damaging MHCC97H Missense Mutation CLTC chr17 57762496 57762496 T C g.57762496T>C ENST00000269122.3 c.4514T>C p.Ile1505Thr missense_variant benign MHCC97H Missense Mutation NOL11 chr17 65734425 65734425 A G g.65734425A>G ENST00000253247.4 c.1717A>G p.Lys573Glu missense_variant benign MHCC97H Missense Mutation WIPI1 chr17 66422237 66422237 A C g.66422237A>C ENST00000262139.5 c.1272T>G p.Asp424Glu missense_variant possibly damaging MHCC97H Missense Mutation ENGASE chr17 77079864 77079864 T C g.77079864T>C ENST00000579016.1 c.1273T>C p.Tyr425His missense_variant probably damaging MHCC97H Missense Mutation USP43 chr17 9604817 9604817 C T g.9604817C>T ENST00000285199.7 c.1811C>T p.Thr604Met missense_variant probably damaging MHCC97H Missense Mutation ZNF24 chr18 32917633 32917633 G T g.32917633G>T ENST00000261332.6 c.670C>A p.Pro224Thr missense_variant benign MHCC97H Missense Mutation COLEC12 chr18 357498 357498 G A g.357498G>A ENST00000400256.3 c.83C>T p.Thr28Ile missense_variant probably damaging MHCC97H Missense Mutation FARSA chr19 13035807 13035807 T A g.13035807T>A ENST00000314606.4 c.937A>T p.Asn313Tyr missense_variant benign MHCC97H Missense Mutation CASP14 chr19 15164374 15164374 G A g.15164374G>A ENST00000221740.1 c.109G>A p.Asp37Asn missense_variant benign MHCC97H Missense Mutation OR1I1 chr19 15198071 15198071 C G g.15198071C>G ENST00000209540.2 c.195C>G p.Asn65Lys missense_variant probably damaging MHCC97H Missense Mutation NCAN chr19 19337750 19337750 C T g.19337750C>T ENST00000252575.6 c.1528C>T p.Pro510Ser missense_variant benign MHCC97H Missense Mutation CILP2 chr19 19651277 19651277 G A g.19651277G>A ENST00000291495.5 c.428G>A p.Cys143Tyr missense_variant probably damaging MHCC97H Missense Mutation RGS9BP chr19 33167551 33167551 G A g.33167551G>A ENST00000334176.3 c.382G>A p.Ala128Thr missense_variant probably damaging MHCC97H Missense Mutation IFNL1 chr19 39787496 39787496 G A g.39787496G>A ENST00000333625.2 c.223G>A p.Gly75Arg missense_variant benign MHCC97H Missense Mutation CEACAM1 chr19 43023220 43023220 G C g.43023220G>C ENST00000161559.6 c.1126C>G p.Gln376Glu missense_variant benign MHCC97H Missense Mutation APOC2 chr19 45452047 45452047 G A g.45452047G>A ENST00000252490.4 c.145G>A p.Glu49Lys missense_variant benign MHCC97H Missense Mutation ZNF610 chr19 52869781 52869781 C T g.52869781C>T ENST00000321287.8 c.1150C>T p.Arg384Cys missense_variant probably damaging MHCC97H Missense Mutation NLRP2 chr19 55494822 55494822 C A g.55494822C>A ENST00000448584.2 c.1756C>A p.Leu586Met missense_variant probably damaging MHCC97H Missense Mutation TMEM190 chr19 55889554 55889554 G A g.55889554G>A ENST00000291934.3 c.517G>A p.Glu173Lys missense_variant benign MHCC97H Missense Mutation SAFB2 chr19 5594053 5594053 G A g.5594053G>A ENST00000252542.4 c.2056C>T p.Arg686Trp missense_variant probably damaging MHCC97H Missense Mutation A1BG chr19 58864383 58864383 G A g.58864383G>A ENST00000263100.3 c.251C>T p.Thr84Met missense_variant probably damaging MHCC97H Missense Mutation MCOLN1 chr19 7589940 7589940 G A g.7589940G>A ENST00000264079.6 c.125G>A p.Arg42His missense_variant probably damaging MHCC97H Missense Mutation MUC16 chr19 9068928 9068928 T C g.9068928T>C ENST00000397910.4 c.18518A>G p.Asp6173Gly missense_variant benign MHCC97H Missense Mutation OR1M1 chr19 9204575 9204575 G T g.9204575G>T ENST00000429566.3 c.655G>T p.Ala219Ser missense_variant possibly damaging MHCC97H Missense Mutation ZNF266 chr19 9524120 9524120 C T g.9524120C>T ENST00000361151.1 c.1481G>A p.Cys494Tyr missense_variant probably damaging MHCC97H Missense Mutation SCN7A chr2 167313396 167313396 C T g.167313396C>T ENST00000409855.1 c.1274G>A p.Gly425Glu missense_variant benign MHCC97H Missense Mutation WIPF1 chr2 175437024 175437024 G C g.175437024G>C ENST00000272746.5 c.509C>G p.Pro170Arg missense_variant possibly damaging MHCC97H Missense Mutation TTN chr2 179426305 179426305 C T g.179426305C>T ENST00000591111.1 c.79631G>A p.Arg26544Gln missense_variant benign MHCC97H Missense Mutation TTN chr2 179611244 179611244 C T g.179611244C>T ENST00000360870.5 c.15883G>A p.Asp5295Asn missense_variant probably damaging MHCC97H Missense Mutation DNAH7 chr2 196729020 196729020 G C g.196729020G>C ENST00000312428.6 c.7359C>G p.Ser2453Arg missense_variant probably damaging MHCC97H Missense Mutation ZDBF2 chr2 207173340 207173340 G T g.207173340G>T ENST00000374423.3 c.4088G>T p.Ser1363Ile missense_variant possibly damaging MHCC97H Missense Mutation PTH2R chr2 209308201 209308201 T C g.209308201T>C ENST00000272847.2 c.638T>C p.Leu213Pro missense_variant possibly damaging MHCC97H Missense Mutation LANCL1 chr2 211301080 211301080 G T g.211301080G>T ENST00000233714.4 c.910C>A p.Gln304Lys missense_variant benign MHCC97H Missense Mutation SPEG chr2 220353551 220353551 C T g.220353551C>T ENST00000312358.7 c.8078C>T p.Thr2693Met missense_variant probably damaging MHCC97H Missense Mutation SGPP2 chr2 223423432 223423432 C T g.223423432C>T ENST00000321276.7 c.1015C>T p.Arg339Cys missense_variant probably damaging MHCC97H Missense Mutation EFHD1 chr2 233527579 233527579 G C g.233527579G>C ENST00000264059.3 c.370G>C p.Ala124Pro missense_variant probably damaging MHCC97H Missense Mutation LOC100505478 chr9 117428975 117428975 C T g.117428975C>T NM_001199233.1 c.311G>A p.Arg104His missense_variant NA MHCC97H Missense Mutation CCDC88A chr2 55646196 55646196 G A g.55646196G>A ENST00000263630.8 c.20C>T p.Thr7Ile missense_variant possibly damaging MHCC97H Missense Mutation CMPK2 chr2 7005800 7005800 C G g.7005800C>G ENST00000256722.5 c.28G>C p.Gly10Arg missense_variant benign MHCC97H Missense Mutation KRCC1 chr2 88328013 88328013 C T g.88328013C>T ENST00000347055.3 c.70G>A p.Ala24Thr missense_variant probably damaging MHCC97H Missense Mutation ACTN3 chr11 66321557 66321557 T G g.66321557T>G ENST00000513398.1 c.424T>G p.Trp142Gly missense_variant probably damaging MHCC97H Missense Mutation CTNNBL1 chr20 36488405 36488405 C G g.36488405C>G ENST00000361383.6 c.1497C>G p.Ile499Met missense_variant probably damaging MHCC97H Missense Mutation BMP7 chr20 55746119 55746119 G T g.55746119G>T ENST00000395863.3 c.1192C>A p.Pro398Thr missense_variant probably damaging MHCC97H Missense Mutation COL20A1 chr20 61956825 61956825 C G g.61956825C>G ENST00000358894.6 c.3327C>G p.Asp1109Glu missense_variant possibly damaging MHCC97H Missense Mutation RGS19 chr20 62705874 62705874 G A g.62705874G>A ENST00000332298.5 c.173C>T p.Ala58Val missense_variant possibly damaging MHCC97H Missense Mutation NCAM2 chr21 22710835 22710835 C G g.22710835C>G ENST00000400546.1 c.1025C>G p.Thr342Arg missense_variant possibly damaging MHCC97H Missense Mutation SON chr21 34924733 34924733 A G g.34924733A>G ENST00000290239.6 c.3196A>G p.Met1066Val missense_variant benign MHCC97H Missense Mutation KCNJ15 chr21 39671271 39671271 A C g.39671271A>C ENST00000328656.4 c.88A>C p.Met30Leu missense_variant benign MHCC97H Missense Mutation TSPEAR chr21 45987695 45987695 A T g.45987695A>T ENST00000323084.4 c.277T>A p.Leu93Met missense_variant probably damaging MHCC97H Missense Mutation COL6A2 chr21 47552409 47552409 C A g.47552409C>A ENST00000300527.4 c.3003C>A p.Asp1001Glu missense_variant benign MHCC97H Missense Mutation MCM3AP chr21 47704437 47704437 G A g.47704437G>A ENST00000291688.1 c.764C>T p.Ser255Leu missense_variant benign MHCC97H Missense Mutation SLC7A4 chr22 21385876 21385876 C T g.21385876C>T ENST00000382932.2 c.226G>A p.Gly76Ser missense_variant benign MHCC97H Missense Mutation CABIN1 chr22 24479317 24479317 A G g.24479317A>G ENST00000263119.5 c.2885A>G p.Tyr962Cys missense_variant probably damaging MHCC97H Missense Mutation PIWIL3 chr22 25150089 25150089 C T g.25150089C>T ENST00000332271.5 c.869G>A p.Arg290Gln missense_variant probably damaging MHCC97H Missense Mutation TNRC6B chr22 40673144 40673144 A C g.40673144A>C ENST00000454349.2 c.3205A>C p.Met1069Leu missense_variant benign MHCC97H Missense Mutation PPP6R2 chr22 50845212 50845212 G A g.50845212G>A ENST00000216061.5 c.322G>A p.Asp108Asn missense_variant benign MHCC97H Missense Mutation BBX chr3 107524348 107524348 A T g.107524348A>T ENST00000416476.2 c.1861A>T p.Ser621Cys missense_variant probably damaging MHCC97H Missense Mutation DZIP3 chr3 108351907 108351907 C G g.108351907C>G ENST00000361582.3 c.804C>G p.Asn268Lys missense_variant benign MHCC97H Missense Mutation RP11-553A10.1 chr3 110611407 110611407 T C g.110611407T>C ENST00000383686.2 c.269A>G p.H90R missense_variant benign MHCC97H Missense Mutation WDR52 chr3 113015724 113015724 C T g.113015724C>T ENST00000393845.2 c.5086G>A p.Glu1696Lys missense_variant damaging MHCC97H Missense Mutation POLQ chr3 121240954 121240954 T A g.121240954T>A ENST00000264233.5 c.1151A>T p.Gln384Leu missense_variant benign MHCC97H Missense Mutation HCLS1 chr3 121350802 121350802 G A g.121350802G>A ENST00000314583.3 c.1352C>T p.Pro451Leu missense_variant probably damaging MHCC97H Missense Mutation KALRN chr3 124390618 124390618 C T g.124390618C>T ENST00000291478.5 c.1721C>T p.Ala574Val missense_variant benign MHCC97H Missense Mutation MUC13 chr3 124627085 124627085 A T g.124627085A>T ENST00000311075.3 c.1445T>A p.V482D missense_variant possibly damaging MHCC97H Missense Mutation CDV3 chr3 133306886 133306886 A G g.133306886A>G ENST00000264993.3 c.773A>G p.Asn258Ser missense_variant benign MHCC97H Missense Mutation SRPRB chr3 133538592 133538592 G C g.133538592G>C ENST00000466490.2 c.798G>C p.Trp266Cys missense_variant benign MHCC97H Missense Mutation ARMC8 chr3 137940774 137940774 G A g.137940774G>A ENST00000461600.1 c.129G>A p.Met43Ile missense_variant benign MHCC97H Missense Mutation CNTN6 chr3 1427412 1427412 G A g.1427412G>A ENST00000350110.2 c.2635G>A p.Val879Ile missense_variant probably damaging MHCC97H Missense Mutation PLOD2 chr3 145803032 145803032 C T g.145803032C>T ENST00000282903.5 c.1156G>A p.Asp386Asn missense_variant benign MHCC97H Missense Mutation MUC4 chr3 195515411 195515411 G A g.195515411G>A ENST00000462323.1 c.3040C>T p.Pro1014Ser missense_variant,NMD_transcript_variant benign MHCC97H Missense Mutation MUC4 chr3 195518055 195518055 C T g.195518055C>T ENST00000462323.1 c.396G>A p.Met132Ile missense_variant,NMD_transcript_variant benign MHCC97H Missense Mutation GADL1 chr3 30898582 30898582 T C g.30898582T>C ENST00000282538.5 c.262A>G p.Met88Val missense_variant benign MHCC97H Missense Mutation ZNF621 chr3 40574103 40574103 A G g.40574103A>G ENST00000339296.5 c.842A>G p.His281Arg missense_variant probably damaging MHCC97H Missense Mutation TRAK1 chr3 42244263 42244263 G C g.42244263G>C ENST00000449246.1 c.1541G>C p.R514P missense_variant possibly damaging MHCC97H Missense Mutation ZBTB47 chr3 42700251 42700251 C T g.42700251C>T ENST00000232974.6 c.404C>T p.Ala135Val missense_variant benign MHCC97H Missense Mutation HHATL chr3 42740540 42740540 G A g.42740540G>A ENST00000310417.5 c.272C>T p.Thr91Met missense_variant possibly damaging MHCC97H Missense Mutation ZNF852 chr3 44542109 44542109 T A g.44542109T>A ENST00000436261.1 c.160A>T p.S54C missense_variant benign MHCC97H Missense Mutation EXOSC7 chr3 45038736 45038736 G T g.45038736G>T ENST00000265564.7 c.412G>T p.Asp138Tyr missense_variant probably damaging MHCC97H Missense Mutation PLXNB1 chr3 48462112 48462112 C A g.48462112C>A ENST00000296440.6 c.1990G>T p.Ala664Ser missense_variant benign MHCC97H Missense Mutation LAMB2 chr3 49163473 49163473 G T g.49163473G>T ENST00000305544.4 c.2271C>A p.Ser757Arg missense_variant possibly damaging MHCC97H Missense Mutation APEH chr3 49713941 49713941 C A g.49713941C>A ENST00000296456.5 c.737C>A p.Pro246His missense_variant probably damaging MHCC97H Missense Mutation TMEM115 chr3 50396028 50396028 C G g.50396028C>G ENST00000266025.3 c.467G>C p.Cys156Ser missense_variant benign MHCC97H Missense Mutation GRM2 chr3 51743051 51743051 G A g.51743051G>A ENST00000296479.5 c.52G>A p.Ala18Thr missense_variant,NMD_transcript_variant benign MHCC97H Missense Mutation GRM2 chr3 51749863 51749863 C T g.51749863C>T ENST00000395052.3 c.2074C>T p.Leu692Phe missense_variant benign MHCC97H Missense Mutation STAB1 chr3 52538536 52538536 G A g.52538536G>A ENST00000321725.6 c.1210G>A p.Val404Ile missense_variant benign MHCC97H Missense Mutation ADAMTS9 chr3 64536644 64536644 C A g.64536644C>A ENST00000498707.1 c.4793G>T p.Ser1598Ile missense_variant benign MHCC97H Missense Mutation CRYBG3 chr3 97591419 97591419 T C g.97591419T>C ENST00000419587.2 c.1381T>C p.Ser461Pro missense_variant unknown MHCC97H Missense Mutation NFKB1 chr4 103534685 103534685 C T g.103534685C>T ENST00000394820.4 c.2693C>T p.Thr898Ile missense_variant benign MHCC97H Missense Mutation TET2 chr4 106196625 106196625 C G g.106196625C>G ENST00000380013.4 c.4958C>G p.Ser1653Cys missense_variant probably damaging MHCC97H Missense Mutation ANK2 chr4 114278014 114278014 G A g.114278014G>A ENST00000357077.4 c.8240G>A p.Arg2747His missense_variant benign MHCC97H Missense Mutation C4orf29 chr4 128949888 128949888 C G g.128949888C>G ENST00000398965.1 c.958C>G p.Arg320Gly missense_variant benign MHCC97H Missense Mutation NPY2R chr4 156135644 156135644 A G g.156135644A>G ENST00000329476.3 c.553A>G p.Ile185Val missense_variant possibly damaging MHCC97H Missense Mutation FAT1 chr4 187521157 187521157 C T g.187521157C>T ENST00000441802.2 c.11998G>A p.Glu4000Lys missense_variant probably damaging MHCC97H Missense Mutation KIAA1239 chr4 37448745 37448745 A G g.37448745A>G ENST00000309447.5 c.5135A>G p.Asn1712Ser missense_variant benign MHCC97H Missense Mutation MAN2B2 chr4 6621733 6621733 A G g.6621733A>G ENST00000285599.3 c.2894A>G p.His965Arg missense_variant benign MHCC97H Missense Mutation GC chr4 72649681 72649681 T C g.72649681T>C ENST00000273951.8 c.55A>G p.Arg19Gly missense_variant benign MHCC97H Missense Mutation PPEF2 chr4 76782056 76782056 C T g.76782056C>T ENST00000286719.7 c.2026G>A p.Glu676Lys missense_variant probably damaging MHCC97H Missense Mutation AFAP1 chr4 7776546 7776546 C G g.7776546C>G ENST00000358461.2 c.1730G>C p.Arg577Thr missense_variant benign MHCC97H Missense Mutation AFAP1 chr4 7780597 7780597 C A g.7780597C>A ENST00000358461.2 c.1537G>T p.Gly513Cys missense_variant probably damaging MHCC97H Missense Mutation HELQ chr4 84362553 84362553 C T g.84362553C>T ENST00000295488.3 c.1567G>A p.Glu523Lys missense_variant benign MHCC97H Missense Mutation NKX6-1 chr4 85416875 85416875 C G g.85416875C>G ENST00000295886.4 c.793G>C p.Glu265Gln missense_variant probably damaging MHCC97H Missense Mutation GAK chr4 864543 864543 A G g.864543A>G ENST00000314167.4 c.2204T>C p.Leu735Pro missense_variant probably damaging MHCC97H Missense Mutation SLC26A1 chr4 982995 982995 A T g.982995A>T ENST00000361661.2 c.1732T>A p.Ser578Thr missense_variant benign MHCC97H Missense Mutation SLC22A4 chr5 131630374 131630374 T G g.131630374T>G ENST00000200652.3 c.65T>G p.Phe22Cys missense_variant benign MHCC97H Missense Mutation PCDHA5 chr5 140203308 140203308 G T g.140203308G>T ENST00000378126.3 c.1948G>T p.Val650Leu missense_variant benign MHCC97H Missense Mutation NR3C1 chr5 142779680 142779680 T C g.142779680T>C ENST00000231509.3 c.725A>G p.Asn242Ser missense_variant benign MHCC97H Missense Mutation GPR151 chr5 145894703 145894703 A G g.145894703A>G ENST00000311104.2 c.974T>C p.Ile325Thr missense_variant benign MHCC97H Missense Mutation SH3TC2 chr5 148407803 148407803 A C g.148407803A>C ENST00000504690.1 c.1492T>G p.Phe498Val missense_variant,NMD_transcript_variant probably damaging MHCC97H Missense Mutation CCNJL chr5 159686526 159686526 T G g.159686526T>G ENST00000393977.3 c.677A>C p.Lys226Thr missense_variant probably damaging MHCC97H Missense Mutation CCNJL chr5 159686662 159686662 G T g.159686662G>T ENST00000393977.3 c.541C>A p.Leu181Met missense_variant probably damaging MHCC97H Missense Mutation TLX3 chr5 170738433 170738433 G A g.170738433G>A ENST00000296921.5 c.706G>A p.Ala236Thr missense_variant possibly damaging MHCC97H Missense Mutation DUSP1 chr5 172197248 172197248 C A g.172197248C>A ENST00000239223.3 c.429G>T p.Met143Ile missense_variant benign MHCC97H Missense Mutation MSX2 chr5 174156188 174156188 C A g.174156188C>A ENST00000239243.6 c.406C>A p.Leu136Met missense_variant probably damaging MHCC97H Missense Mutation FLT4 chr5 180030223 180030223 C T g.180030223C>T ENST00000261937.6 c.4061G>A p.Arg1354His missense_variant benign MHCC97H Missense Mutation CDH10 chr5 24487807 24487807 T A g.24487807T>A ENST00000264463.4 c.2332A>T p.Met778Leu missense_variant benign MHCC97H Missense Mutation CDH9 chr5 26902725 26902725 T G g.26902725T>G ENST00000231021.4 c.1113A>C p.Lys371Asn missense_variant probably damaging MHCC97H Missense Mutation NPR3 chr5 32724875 32724875 A C g.32724875A>C ENST00000265074.8 c.841A>C p.Ser281Arg missense_variant benign MHCC97H Missense Mutation ADAMTS12 chr5 33881246 33881246 G A g.33881246G>A ENST00000352040.3 c.467C>T p.Ala156Val missense_variant benign MHCC97H Missense Mutation SLC1A3 chr5 36686290 36686290 G C g.36686290G>C ENST00000265113.4 c.1548G>C p.Glu516Asp missense_variant benign MHCC97H Missense Mutation C5orf42 chr5 37183083 37183083 G A g.37183083G>A ENST00000425232.2 c.5200C>T p.Pro1734Ser missense_variant possibly damaging MHCC97H Missense Mutation GHR chr5 42718170 42718170 C A g.42718170C>A ENST00000230882.4 c.892C>A p.Leu298Met missense_variant probably damaging MHCC97H Missense Mutation EMB chr5 49699242 49699242 T A g.49699242T>A ENST00000303221.5 c.647A>T p.Tyr216Phe missense_variant benign MHCC97H Missense Mutation KIAA0947 chr5 5457745 5457745 A T g.5457745A>T ENST00000296564.7 c.992A>T p.Gln331Leu missense_variant probably damaging MHCC97H Missense Mutation DHX29 chr5 54585202 54585202 T C g.54585202T>C ENST00000251636.5 c.962A>G p.His321Arg missense_variant benign MHCC97H Missense Mutation ELOVL7 chr5 60060089 60060089 G A g.60060089G>A ENST00000425382.1 c.464C>T p.Pro155Leu missense_variant probably damaging MHCC97H Missense Mutation IPO11 chr5 61923044 61923044 G A g.61923044G>A ENST00000325324.6 c.2827G>A p.Ala943Thr missense_variant possibly damaging MHCC97H Missense Mutation ADAMTS6 chr5 64492952 64492952 T C g.64492952T>C ENST00000381055.3 c.2602A>G p.Lys868Glu missense_variant benign MHCC97H Missense Mutation PTCD2 chr5 71654203 71654203 G A g.71654203G>A ENST00000308077.5 c.1116G>A p.Met372Ile missense_variant,NMD_transcript_variant benign MHCC97H Missense Mutation FCHO2 chr5 72373275 72373275 T C g.72373275T>C ENST00000341845.6 c.1802T>C p.Ile601Thr missense_variant benign MHCC97H Missense Mutation CRHBP chr5 76254706 76254706 C A g.76254706C>A ENST00000274368.4 c.685C>A p.Gln229Lys missense_variant benign MHCC97H Missense Mutation ADCY2 chr5 7802412 7802412 G A g.7802412G>A ENST00000338316.4 c.2710G>A p.Asp904Asn missense_variant possibly damaging MHCC97H Missense Mutation THBS4 chr5 79373931 79373931 A G g.79373931A>G ENST00000350881.2 c.2146A>G p.Ile716Val missense_variant benign MHCC97H Missense Mutation MSH3 chr5 80169088 80169088 G A g.80169088G>A ENST00000265081.6 c.3284G>A p.Gly1095Glu missense_variant benign MHCC97H Missense Mutation ERAP1 chr5 96139394 96139394 G A g.96139394G>A ENST00000296754.3 c.236C>T p.Thr79Ile missense_variant benign MHCC97H Missense Mutation GPR6 chr6 110301240 110301240 G T g.110301240G>T ENST00000275169.3 c.925G>T p.Val309Phe missense_variant probably damaging MHCC97H Missense Mutation ROS1 chr6 117715380 117715380 G T g.117715380G>T ENST00000368508.3 c.1109C>A p.Ser370Tyr missense_variant probably damaging MHCC97H Missense Mutation HIVEP1 chr6 12123285 12123285 T C g.12123285T>C ENST00000379388.2 c.3257T>C p.Ile1086Thr missense_variant benign MHCC97H Missense Mutation HIVEP1 chr6 12124671 12124671 G C g.12124671G>C ENST00000379388.2 c.4643G>C p.Gly1548Ala missense_variant benign MHCC97H Missense Mutation NCOA7 chr6 126249325 126249325 T A g.126249325T>A ENST00000368357.3 c.2625T>A p.Phe875Leu missense_variant probably damaging MHCC97H Missense Mutation OLIG3 chr6 137814568 137814568 G T g.137814568G>T ENST00000367734.2 c.740C>A p.Pro247Gln missense_variant probably damaging MHCC97H Missense Mutation GPR126 chr6 142691874 142691874 A T g.142691874A>T ENST00000230173.6 c.1013A>T p.Asn338Ile missense_variant probably damaging MHCC97H Missense Mutation GRM1 chr6 146755535 146755535 G C g.146755535G>C ENST00000282753.1 c.3188G>C p.Arg1063Pro missense_variant benign MHCC97H Missense Mutation MYCT1 chr6 153043120 153043120 A G g.153043120A>G ENST00000367245.5 c.440A>G p.Gln147Arg missense_variant probably damaging MHCC97H Missense Mutation SYNJ2 chr6 158492765 158492765 C A g.158492765C>A ENST00000355585.4 c.2072C>A p.Ser691Tyr missense_variant probably damaging MHCC97H Missense Mutation PNLDC1 chr6 160224340 160224340 C G g.160224340C>G ENST00000610273.1 c.213C>G p.Asn71Lys (Splice) missense_variant,splice_region_variant possibly damaging MHCC97H Missense Mutation PNLDC1 chr6 160232741 160232741 G A g.160232741G>A ENST00000610273.1 c.829G>A p.Asp277Asn missense_variant possibly damaging MHCC97H Missense Mutation IGF2R chr6 160468867 160468867 A C g.160468867A>C ENST00000356956.1 c.2273A>C p.Tyr758Ser missense_variant probably damaging MHCC97H Missense Mutation PLG chr6 161139331 161139331 C T g.161139331C>T ENST00000308192.9 c.793C>T p.Pro265Ser missense_variant benign MHCC97H Missense Mutation LRRC16A chr6 25600616 25600616 G A g.25600616G>A ENST00000329474.6 c.3194G>A p.Arg1065Gln missense_variant probably damaging MHCC97H Missense Mutation UQCC2 chr6 33679419 33679419 T G g.33679419T>G ENST00000374214.3 c.45A>C p.Glu15Asp missense_variant probably damaging MHCC97H Missense Mutation LEMD2 chr6 33756574 33756574 A G g.33756574A>G ENST00000293760.5 c.320T>C p.Ile107Thr missense_variant benign MHCC97H Missense Mutation GCM1 chr6 52996843 52996843 T C g.52996843T>C ENST00000259803.7 c.403A>G p.Asn135Asp missense_variant probably damaging MHCC97H Missense Mutation KHDC3L chr6 74072893 74072893 A T g.74072893A>T ENST00000370367.3 c.245A>T p.Asn82Ile missense_variant benign MHCC97H Missense Mutation PGM3 chr6 83888401 83888401 T G g.83888401T>G ENST00000283977.4 c.777A>C p.Glu259Asp missense_variant benign MHCC97H Missense Mutation ANKRD6 chr6 90323586 90323586 T C g.90323586T>C ENST00000339746.4 c.592T>C p.Cys198Arg missense_variant probably damaging MHCC97H Missense Mutation MDN1 chr6 90385231 90385231 C T g.90385231C>T ENST00000369393.3 c.12713G>A p.Arg4238Gln missense_variant benign MHCC97H Missense Mutation NYAP1 chr7 100084679 100084679 A G g.100084679A>G ENST00000300179.2 c.304A>G p.Ser102Gly missense_variant benign MHCC97H Missense Mutation MUC12 chr7 100635545 100635545 T G g.100635545T>G ENST00000536621.1 c.1701T>G p.Ser567Arg missense_variant damaging MHCC97H Missense Mutation LAMB4 chr7 107696384 107696384 G A g.107696384G>A ENST00000205386.4 c.3448C>T p.Arg1150Trp missense_variant probably damaging MHCC97H Missense Mutation VWDE chr7 12407111 12407111 G A g.12407111G>A ENST00000275358.3 c.2770C>T p.Pro924Ser missense_variant probably damaging MHCC97H Missense Mutation VWDE chr7 12417539 12417539 G A g.12417539G>A ENST00000275358.3 c.887C>T p.Pro296Leu missense_variant probably damaging MHCC97H Missense Mutation PRRT4 chr7 127999257 127999257 G A g.127999257G>A ENST00000435512.1 c.703C>T p.Pro235Ser missense_variant benign MHCC97H Missense Mutation LRGUK chr7 133948690 133948690 A T g.133948690A>T ENST00000285928.2 c.2441A>T p.Lys814Ile missense_variant probably damaging MHCC97H Missense Mutation ZNF212 chr7 148951488 148951488 G T g.148951488G>T ENST00000335870.2 c.1470G>T p.Arg490Ser missense_variant benign MHCC97H Missense Mutation KMT2C chr7 151962146 151962146 C A g.151962146C>A ENST00000262189.6 c.1161G>T p.Glu387Asp missense_variant benign MHCC97H Missense Mutation DPP6 chr7 153749970 153749970 C T g.153749970C>T ENST00000377770.3 c.65C>T p.Pro22Leu missense_variant probably damaging MHCC97H Missense Mutation PTPRN2 chr7 157341651 157341651 C G g.157341651C>G ENST00000389418.4 c.2965G>C p.Val989Leu missense_variant probably damaging MHCC97H Missense Mutation ESYT2 chr7 158540917 158540917 G A g.158540917G>A ENST00000251527.5 c.1693C>T p.His565Tyr missense_variant probably damaging MHCC97H Missense Mutation OSBPL3 chr7 24905802 24905802 T G g.24905802T>G ENST00000313367.2 c.436A>C p.Met146Leu missense_variant benign MHCC97H Missense Mutation GNA12 chr7 2802249 2802249 G C g.2802249G>C ENST00000407653.1 c.274C>G p.Arg92Gly missense_variant NA MHCC97H Missense Mutation NME8 chr7 37936611 37936611 A G g.37936611A>G ENST00000199447.4 c.1684A>G p.Lys562Glu missense_variant benign MHCC97H Missense Mutation GRB10 chr7 50674041 50674041 G A g.50674041G>A ENST00000398812.2 c.1265C>T p.Thr422Met missense_variant benign MHCC97H Missense Mutation POR chr7 75615336 75615336 G A g.75615336G>A ENST00000394893.1 c.1765G>A p.Gly589Ser missense_variant probably damaging MHCC97H Missense Mutation ZP3 chr7 76054415 76054415 A G g.76054415A>G ENST00000394857.3 c.134A>G p.Glu45Gly missense_variant possibly damaging MHCC97H Missense Mutation PHTF2 chr7 77579025 77579025 T A g.77579025T>A ENST00000248550.7 c.1990T>A p.Cys664Ser missense_variant benign MHCC97H Missense Mutation SEMA3D chr7 84628795 84628795 G T g.84628795G>T ENST00000284136.6 c.2295C>A p.His765Gln missense_variant probably damaging MHCC97H Missense Mutation ZNF804B chr7 88965288 88965288 C G g.88965288C>G ENST00000333190.4 c.2992C>G p.Pro998Ala missense_variant benign MHCC97H Missense Mutation RBM48 chr7 92164273 92164273 A G g.92164273A>G ENST00000265732.5 c.1006A>G p.Lys336Glu missense_variant probably damaging MHCC97H Missense Mutation TRRAP chr7 98608711 98608711 A G g.98608711A>G ENST00000355540.3 c.10846A>G p.Met3616Val missense_variant possibly damaging MHCC97H Missense Mutation RP1L1 chr8 10465778 10465778 C T g.10465778C>T ENST00000382483.3 c.5830G>A p.Glu1944Lys missense_variant benign MHCC97H Missense Mutation TG chr8 134034251 134034251 G A g.134034251G>A ENST00000220616.4 c.6892G>A p.Val2298Met missense_variant probably damaging MHCC97H Missense Mutation CYP11B2 chr8 143998503 143998503 G A g.143998503G>A ENST00000323110.2 c.367C>T p.Arg123Cys missense_variant possibly damaging MHCC97H Missense Mutation NAPRT1 chr8 144658719 144658719 G C g.144658719G>C ENST00000276844.7 c.905C>G p.Ala302Gly missense_variant probably damaging MHCC97H Missense Mutation SLC39A4 chr8 145640632 145640632 C T g.145640632C>T ENST00000301305.3 c.646G>A p.Glu216Lys missense_variant benign MHCC97H Missense Mutation PSD3 chr8 18430150 18430150 T G g.18430150T>G ENST00000327040.8 c.2672A>C p.Lys891Thr missense_variant benign MHCC97H Missense Mutation LGI3 chr8 22009404 22009404 G A g.22009404G>A ENST00000306317.2 c.604C>T p.Arg202Cys missense_variant probably damaging MHCC97H Missense Mutation CSMD1 chr8 2886924 2886924 C G g.2886924C>G ENST00000537824.1 c.7772G>C p.Gly2591Ala missense_variant probably damaging MHCC97H Missense Mutation IDO1 chr8 39785442 39785442 G A g.39785442G>A ENST00000518237.1 c.950G>A p.Arg317His missense_variant probably damaging MHCC97H Missense Mutation PXDNL chr8 52469414 52469414 T C g.52469414T>C ENST00000356297.4 c.366A>G p.Ile122Met missense_variant possibly damaging MHCC97H Missense Mutation FAM110B chr8 59059602 59059602 C A g.59059602C>A ENST00000361488.3 c.813C>A p.Asp271Glu missense_variant possibly damaging MHCC97H Missense Mutation DNAJC5B chr8 66992725 66992725 G T g.66992725G>T ENST00000276570.5 c.447G>T p.Glu149Asp missense_variant benign MHCC97H Missense Mutation OR13C4 chr9 107289157 107289157 A T g.107289157A>T ENST00000277216.3 c.334T>A p.Cys112Ser missense_variant probably damaging MHCC97H Missense Mutation ZNF462 chr9 109773174 109773174 A G g.109773174A>G ENST00000277225.5 c.7384A>G p.Lys2462Glu missense_variant benign MHCC97H Missense Mutation FRRS1L chr9 111903644 111903644 C G g.111903644C>G ENST00000561981.2 c.841G>C p.Ala281Pro missense_variant probably damaging MHCC97H Missense Mutation ZNF483 chr9 114305271 114305271 A C g.114305271A>C ENST00000309235.5 c.2056A>C p.Thr686Pro missense_variant probably damaging MHCC97H Missense Mutation MEGF9 chr9 123421745 123421745 G A g.123421745G>A ENST00000373930.3 c.710C>T p.Thr237Ile missense_variant benign MHCC97H Missense Mutation RABEPK chr9 127965309 127965309 T A g.127965309T>A ENST00000259460.8 c.17T>A p.Val6Asp missense_variant possibly damaging MHCC97H Missense Mutation FAM102A chr9 130710385 130710385 C A g.130710385C>A ENST00000373095.1 c.581G>T p.Arg194Leu missense_variant possibly damaging MHCC97H Missense Mutation LAMC3 chr9 133951249 133951249 A T g.133951249A>T ENST00000361069.4 c.3526A>T p.Thr1176Ser missense_variant benign MHCC97H Missense Mutation NDOR1 chr9 140110589 140110589 C T g.140110589C>T ENST00000344894.5 c.1598C>T p.Ser533Leu missense_variant benign MHCC97H Missense Mutation SLC1A1 chr9 4561478 4561478 G A g.4561478G>A ENST00000262352.3 c.262G>A p.Gly88Arg missense_variant probably damaging MHCC97H Missense Mutation C9orf85 chr9 74526705 74526705 A G g.74526705A>G ENST00000334731.2 c.55A>G p.Thr19Ala missense_variant benign MHCC97H Missense Mutation WNK2 chr9 96055209 96055209 A G g.96055209A>G ENST00000395477.2 c.5462A>G p.Gln1821Arg missense_variant possibly damaging MHCC97H Missense Mutation CT47B1 chrX 120009089 120009089 G C g.120009089G>C ENST00000371311.3 c.436C>G p.Arg146Gly missense_variant probably damaging MHCC97H Missense Mutation MAGEA8 chrX 149013449 149013449 A C g.149013449A>C ENST00000286482.1 c.403A>C p.Lys135Gln missense_variant probably damaging MHCC97H Missense Mutation MAP7D2 chrX 20043898 20043898 C A g.20043898C>A ENST00000379651.3 c.1057G>T p.Gly353Cys missense_variant possibly damaging MHCC97H Missense Mutation MXRA5 chrX 3248378 3248378 C T g.3248378C>T ENST00000217939.6 c.390G>A p.Met130Ile missense_variant benign MHCC97H Missense Mutation MAGEB16 chrX 35821201 35821201 A C g.35821201A>C ENST00000399985.1 c.888A>C p.Lys296Asn missense_variant possibly damaging MHCC97H Missense Mutation ZNF41 chrX 47307950 47307950 C T g.47307950C>T ENST00000313116.7 c.1219G>A p.Gly407Arg missense_variant probably damaging MHCC97H Missense Mutation HDAC6 chrX 48663850 48663850 C T g.48663850C>T ENST00000334136.5 c.317C>T p.Pro106Leu missense_variant probably damaging MHCC97H Missense Mutation FOXP3 chrX 49113430 49113430 G A g.49113430G>A ENST00000376207.4 c.494C>T p.Pro165Leu missense_variant probably damaging MHCC97H Missense Mutation KIF4A chrX 69561689 69561689 A C g.69561689A>C ENST00000374388.3 c.1174A>C p.Asn392His missense_variant probably damaging MHCC97H Missense Mutation ZMYM3 chrX 70461191 70461191 G A g.70461191G>A ENST00000314425.5 c.3806C>T p.Thr1269Met missense_variant probably damaging MHCC97H Missense Mutation ERCC6L chrX 71426197 71426197 C T g.71426197C>T ENST00000334463.3 c.2420G>A p.Ser807Asn missense_variant benign MHCC97H Missense Mutation KAL1 chrX 8502446 8502446 T C g.8502446T>C ENST00000262648.3 c.1898A>G p.Glu633Gly missense_variant probably damaging MHCC97H Missense Mutation FAM9B chrX 9000448 9000448 C T g.9000448C>T ENST00000327220.5 c.83G>A p.Arg28Lys missense_variant possibly damaging HepG2 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging B1 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging HCC-1.2 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging HCC-1.1 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU387 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU398 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU423 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU475 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging Huh7 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging Mahlavu Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging HLE Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging HLF Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging Li7 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging JHH2 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging JHH4 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging JHH5 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging JHH6 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging JHH7 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU354 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU368 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU739 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU878 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging SNU886 Promoter Mutation TERT chr5 1295228 1295228 G A g.1295228G>A NM_198253.2 c.-124C>T p.? upstream_gene_variant damaging HepG2 Truncating Mutation RNPC3 chr1 104068839 104068839 C A g.104068839C>A ENST00000423855.2 c.147C>A p.Tyr49X stop_gained damaging HepG2 Truncating Mutation AADACL4 chr1 12726616 12726616 T - g.12726616del ENST00000376221.1 c.1094del p.Val365AlafsX3 frameshift_variant damaging HepG2 Truncating Mutation FMO4 chr1 171310770 171310770 G A g.171310770G>A ENST00000367749.3 c.1469G>A p.Trp490X stop_gained damaging HepG2 Truncating Mutation OBSCN chr1 228520643 228520643 G - g.228520646del ENST00000284548.11 c.15731+7del p.? splice_region_variant,intron_variant damaging HepG2 Truncating Mutation MTR chr1 236979843 236979843 G A g.236979843G>A ENST00000366577.5 c.764G>A p.Cys255Tyr (Splice) missense_variant,splice_region_variant probably damaging HepG2 Truncating Mutation SMPDL3B chr1 28271744 28271744 G A g.28271744G>A ENST00000373888.4 c.63G>A p.Gly21Gly (Splice) splice_region_variant,synonymous_variant damaging HepG2 Truncating Mutation EFCAB14 chr1 47152544 47152544 T G g.47152544T>G ENST00000371933.3 c.988-2A>C p.M330_splice splice_acceptor_variant damaging HepG2 Truncating Mutation C1orf141 chr1 67569031 67569031 G C g.67569031G>C ENST00000448166.2 c.449C>G p.Ser150X stop_gained damaging HepG2 Truncating Mutation RRP12 chr10 99130035 99130035 G A g.99130035G>A ENST00000414986.1 c.2507-4C>T p.? splice_region_variant,intron_variant damaging HepG2 Truncating Mutation OR5I1 chr11 55703050 55703051 AT - g.55703050_55703051del ENST00000301532.3 c.826_827del p.Ile276LeufsX17 frameshift_variant damaging HepG2 Truncating Mutation GANAB chr11 62400543 62400544 - AG g.62400543_62400544insAG ENST00000356638.3 c.748_749insCT p.Leu250ProfsX18 frameshift_variant damaging HepG2 Truncating Mutation PARPBP chr12 102569443 102569443 G A g.102569443G>A ENST00000358383.5 c.1004G>A p.Arg335Gln (Splice) missense_variant,splice_region_variant probably damaging HepG2 Truncating Mutation LTBR chr12 6499412 6499412 A - g.6499412del ENST00000228918.4 c.936del p.Val313PhefsX15 frameshift_variant damaging HepG2 Truncating Mutation ZFC3H1 chr12 72041593 72041593 C T g.72041593C>T ENST00000378743.3 c.1016G>A p.Gly339Glu (Splice) missense_variant,splice_region_variant probably damaging HepG2 Truncating Mutation L2HGDH chr14 50778729 50778729 C T g.50778729C>T ENST00000261699.4 c.140G>A p.Ser47Asn (Splice) missense_variant,splice_region_variant damaging HepG2 Truncating Mutation MPP5 chr14 67768686 67768686 C T g.67768686C>T ENST00000261681.4 c.655-3C>T p.? splice_region_variant,intron_variant damaging HepG2 Truncating Mutation SLC8A3 chr14 70634539 70634539 G A g.70634539G>A ENST00000356921.2 c.601C>T p.Arg201X stop_gained damaging HepG2 Truncating Mutation PLA2G4E chr15 42299971 42299971 C A g.42299971C>A ENST00000413860.2 c.262G>T p.Glu88X stop_gained damaging HepG2 Truncating Mutation LYSMD2 chr15 52016984 52016984 T C g.52016984T>C ENST00000454181.2 c.332+3A>G p.? splice_region_variant,intron_variant damaging HepG2 Truncating Mutation STRA6 chr15 74501738 74501738 G A g.74501738G>A ENST00000535552.1 c.58C>T p.Gln20X stop_gained damaging HepG2 Truncating Mutation SEPT12 chr16 4833961 4833961 G T g.4833961G>T ENST00000268231.8 c.483C>A p.Cys161X stop_gained damaging HepG2 Truncating Mutation SCARF1 chr17 1538697 1538698 - GGGCTTTC g.1538697_1538698insGGGCTTTC ENST00000263071.4 c.1847_1848insGAAAGCCC p.Arg618AlafsX74 frameshift_variant damaging HepG2 Truncating Mutation ARHGAP27 chr17 43482471 43482471 G A g.43482471G>A ENST00000376922.2 c.44C>T p.Pro15Leu (Splice) missense_variant,splice_region_variant probably damaging HepG2 Truncating Mutation FXR2 chr17 7495909 7495912 ATTC - g.7495909_7495912del ENST00000250113.7 c.1735_1738del p.Glu579GlnfsX30 frameshift_variant damaging HepG2 Truncating Mutation LPIN2 chr18 2925222 2925222 G C g.2925222G>C ENST00000261596.4 c.1938C>G p.Ile646Met (Splice) missense_variant,splice_region_variant probably damaging HepG2 Truncating Mutation KDSR chr18 61006104 61006104 G A g.61006104G>A ENST00000406396.3 c.706C>T p.Arg236X stop_gained damaging HepG2 Truncating Mutation PIK3R2 chr19 18279692 18279692 C A g.18279692C>A ENST00000222254.8 c.1965C>A p.Tyr655X stop_gained damaging HepG2 Truncating Mutation PLIN4 chr19 4504551 4504551 G A g.4504551G>A ENST00000301286.3 c.3994C>T p.Gln1332X stop_gained damaging HepG2 Truncating Mutation LYPD6 chr2 150305658 150305658 C T g.150305658C>T ENST00000334166.4 c.214C>T p.Arg72X stop_gained damaging HepG2 Truncating Mutation TTN chr2 179611154 179611154 C A g.179611154C>A ENST00000360870.5 c.15973G>T p.Glu5325X stop_gained damaging HepG2 Truncating Mutation TTN chr2 179616767 179616767 C G g.179616767C>G ENST00000360870.5 c.10361-1G>C p.? splice_acceptor_variant damaging HepG2 Truncating Mutation ANKAR chr2 190575801 190575801 C T g.190575801C>T ENST00000313581.4 c.2146C>T p.Arg716X stop_gained damaging HepG2 Truncating Mutation KIF1A chr2 241723156 241723156 C A g.241723156C>A ENST00000320389.7 c.798G>T p.Lys266Asn (Splice) missense_variant,splice_region_variant probably damaging HepG2 Truncating Mutation VIT chr2 37036088 37036088 C A g.37036088C>A ENST00000389975.3 c.1818C>A p.Tyr606X stop_gained damaging HepG2 Truncating Mutation TTC31 chr2 74720157 74720157 C T g.74720157C>T ENST00000233623.5 c.1372C>T p.Arg458X stop_gained damaging HepG2 Truncating Mutation NRIP1 chr21 16337964 16337964 C - g.16337964del ENST00000318948.4 c.2550del p.Asn851IlefsX16 frameshift_variant damaging HepG2 Truncating Mutation PDE9A chr21 44180434 44180434 G A g.44180434G>A ENST00000335512.4 c.718-4G>A p.? splice_region_variant,intron_variant damaging HepG2 Truncating Mutation ROBO2 chr3 77629268 77629268 C T g.77629268C>T ENST00000332191.8 c.2499C>T p.Ile833Ile (Splice) splice_region_variant,synonymous_variant damaging HepG2 Truncating Mutation BANK1 chr4 102791662 102791662 A G g.102791662A>G ENST00000322953.4 c.764A>G p.Glu255Gly (Splice) missense_variant,splice_region_variant damaging HepG2 Truncating Mutation GABRG1 chr4 46053441 46053441 C G g.46053441C>G ENST00000295452.4 c.1131G>C p.S377S (Splice) splice_region_variant,synonymous_variant damaging HepG2 Truncating Mutation ERBB2IP chr5 65374357 65374358 - A g.65374358dup ENST00000380935.1 c.3909dup p.X1413fs 3_prime_UTR_variant damaging HepG2 Truncating Mutation ECHDC1 chr6 127611133 127611136 AACA - g.127611133_127611136del ENST00000531967.1 c.802_805del p.Cys268GlnfsX18 frameshift_variant damaging HepG2 Truncating Mutation SYNE1 chr6 152646219 152646219 C T g.152646219C>T ENST00000265368.4 c.15657G>A p.K5219K (Splice) splice_region_variant,synonymous_variant damaging HepG2 Truncating Mutation TFEB chr6 41658972 41658972 C T g.41658972C>T ENST00000358871.2 c.22G>A p.Glu8Lys (Splice) missense_variant,splice_region_variant damaging HepG2 Truncating Mutation AQP1 chr7 30961846 30961846 G A g.30961846G>A ENST00000311813.4 c.549+1G>A p.A183_splice splice_donor_variant damaging HepG2 Truncating Mutation DGAT1 chr8 145541836 145541836 C T g.145541836C>T ENST00000332324.4 c.677-4G>A p.A226_splice splice_region_variant,intron_variant damaging HepG2 Truncating Mutation SLC39A4 chr8 145639817 145639817 C T g.145639817C>T ENST00000301305.3 c.978G>A p.R326R (Splice) splice_region_variant,synonymous_variant damaging HepG2 Truncating Mutation HGSNAT chr8 43002207 43002207 G A g.43002207G>A ENST00000379644.4 c.234+1G>A p.H78_splice splice_donor_variant damaging HepG2 Truncating Mutation TGS1 chr8 56723438 56723438 A G g.56723438A>G ENST00000260129.5 c.2144-2A>G p.V715_splice splice_acceptor_variant damaging HepG2 Truncating Mutation OLFML2A chr9 127572229 127572229 G A g.127572229G>A ENST00000373580.3 c.1497G>A p.Trp499X stop_gained damaging HepG2 Truncating Mutation FIBCD1 chr9 133799621 133799621 C T g.133799621C>T ENST00000372338.4 c.712+3G>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation OLFM3 chr1 102462331 102462334 AGAC - g.102462331_102462334del ENST00000370103.4 c.39_42del p.Ser14CysfsX5 frameshift_variant damaging Hep3B Truncating Mutation SLC35E2 chr1 1663944 1663944 G A g.1663944G>A ENST00000246421.4 c.751C>T p.Arg251X stop_gained damaging Hep3B Truncating Mutation USH2A chr1 216040347 216040347 A C g.216040347A>C ENST00000307340.3 c.8845+2T>G p.T2949_splice splice_donor_variant damaging Hep3B Truncating Mutation TMEM63A chr1 226054386 226054386 A G g.226054386A>G ENST00000366835.3 c.567-4T>C p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation NUP133 chr1 229623339 229623339 G A g.229623339G>A ENST00000261396.3 c.1216C>T p.Gln406X stop_gained damaging Hep3B Truncating Mutation WLS chr1 68613819 68613819 G A g.68613819G>A ENST00000262348.4 c.1134C>T p.A378A (Splice) splice_region_variant,synonymous_variant damaging Hep3B Truncating Mutation GBP7 chr1 89616152 89616153 - T g.89616152dup ENST00000294671.2 c.732dup p.Leu245ThrfsX6 frameshift_variant damaging Hep3B Truncating Mutation SFMBT2 chr10 7214626 7214626 G A g.7214626G>A ENST00000361972.4 c.1985-3C>T p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation TECTA chr11 120979916 120979916 G A g.120979916G>A ENST00000264037.2 c.199-4G>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation ROBO3 chr11 124740200 124740200 G T g.124740200G>T ENST00000397801.1 c.905+1G>T p.Arg302_splice splice_donor_variant damaging Hep3B Truncating Mutation YIF1A chr11 66055284 66055284 T A g.66055284T>A ENST00000359461.6 c.347A>T p.Gln116Leu (Splice) missense_variant,splice_region_variant damaging Hep3B Truncating Mutation TENM4 chr11 78381452 78381452 G A g.78381452G>A ENST00000278550.7 c.5938C>T p.Gln1980X stop_gained damaging Hep3B Truncating Mutation KLRD1 chr12 10462221 10462221 A G g.10462221A>G ENST00000336164.4 c.101-4A>G p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation MARS chr12 57906530 57906530 C A g.57906530C>A ENST00000262027.5 c.1754-4C>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation PABPC3 chr13 25670871 25670871 C T g.25670871C>T ENST00000281589.3 c.535C>T p.Arg179X stop_gained damaging Hep3B Truncating Mutation RB1 chr13 49027160 49027160 C G g.49027160C>G ENST00000267163.4 c.1727C>G p.Ser576X stop_gained damaging Hep3B Truncating Mutation SERPINE3 chr13 51921297 51921298 - C g.51921298dup ENST00000400389.4 c.628dup p.Leu210ProfsX56 frameshift_variant damaging Hep3B Truncating Mutation CMTM5 chr14 23847976 23847977 - CG g.23847976_23847977insCG ENST00000339180.4 c.377_378dup p.Gly127ArgfsX55 frameshift_variant damaging Hep3B Truncating Mutation DCAF4 chr14 73425318 73425318 A G g.73425318A>G ENST00000394234.2 c.995-2A>G p.V432_splice splice_acceptor_variant damaging Hep3B Truncating Mutation C14orf169 chr14 73958726 73958726 G A g.73958726G>A NA NA NA NA NA Hep3B Truncating Mutation ISG20 chr15 89195338 89195338 C A g.89195338C>A ENST00000306072.5 c.229-3C>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation RGS11 chr16 323835 323835 T C g.323835T>C ENST00000397768.3 c.431A>G p.Asp144Gly (Splice) missense_variant,splice_region_variant possibly damaging Hep3B Truncating Mutation AXIN1 chr16 396590 396590 G A g.396590G>A ENST00000262320.3 c.436C>T p.Arg146X stop_gained damaging Hep3B Truncating Mutation VPS35 chr16 46708575 46708576 - A g.46708575dup ENST00000299138.7 c.915-3dup p.? intron_variant damaging Hep3B Truncating Mutation ANKRD11 chr16 89350820 89350820 C T g.89350820C>T ENST00000301030.4 c.2130G>A p.Trp710X stop_gained damaging Hep3B Truncating Mutation KIF19 chr17 72339198 72339198 C T g.72339198C>T ENST00000389916.4 c.355C>T p.Gln119X stop_gained damaging Hep3B Truncating Mutation TMC6 chr17 76122606 76122606 T G g.76122606T>G ENST00000306591.7 c.180A>C p.Thr60Thr (Splice) splice_region_variant,synonymous_variant damaging Hep3B Truncating Mutation FCGBP chr19 40434213 40434213 C T g.40434213C>T ENST00000221347.6 c.56G>A p.Gly19Glu (Splice) missense_variant,splice_region_variant probably damaging Hep3B Truncating Mutation MYBPC2 chr19 50962563 50962563 G A g.50962563G>A ENST00000357701.5 c.2791G>A p.Glu931Lys (Splice) missense_variant,splice_region_variant possibly damaging Hep3B Truncating Mutation ZNF419 chr19 57999352 57999352 G C g.57999352G>C ENST00000221735.7 c.33+1G>C p.Q11_splice splice_donor_variant damaging Hep3B Truncating Mutation PTBP1 chr19 804825 804825 G A g.804825G>A ENST00000349038.4 c.607-4G>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation UNC80 chr2 210800536 210800536 G A g.210800536G>A ENST00000439458.1 c.6075+4G>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation SIRPG chr20 1629721 1629721 G - g.1629721del ENST00000216927.4 c.407del p.Pro136GlnfsX29 frameshift_variant damaging Hep3B Truncating Mutation SLC35C2 chr20 44980839 44980840 - T g.44980839dup ENST00000243896.2 c.688dup p.Ile230AsnfsX31 frameshift_variant damaging Hep3B Truncating Mutation ADRM1 chr20 60883237 60883237 A G g.60883237A>G ENST00000253003.2 c.1014+3A>G p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation PKNOX1 chr21 44433175 44433175 T C g.44433175T>C ENST00000291547.5 c.352-3T>C p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation LRRIQ4 chr3 169546720 169546720 G C g.169546720G>C ENST00000340806.6 c.1194G>C p.Gln398His (Splice) missense_variant,splice_region_variant probably damaging Hep3B Truncating Mutation LMLN chr3 197746259 197746259 A G g.197746259A>G ENST00000420910.2 c.1476+3A>G p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation CLDND1 chr3 98235895 98235895 C A g.98235895C>A ENST00000341181.6 c.541+1G>T p.Gly181_splice splice_donor_variant damaging Hep3B Truncating Mutation CLDND1 chr3 98235896 98235896 C G g.98235896C>G ENST00000341181.6 c.541G>C p.Gly181Arg (Splice) missense_variant,splice_region_variant possibly damaging Hep3B Truncating Mutation GFM2 chr5 74021950 74021950 A T g.74021950A>T ENST00000296805.3 c.1728T>A p.Asp576Glu (Splice) missense_variant,splice_region_variant damaging Hep3B Truncating Mutation AK9 chr6 109863251 109863251 G A g.109863251G>A ENST00000424296.2 c.3349C>T p.Arg1117Cys (Splice) missense_variant,splice_region_variant damaging Hep3B Truncating Mutation AK9 chr6 109894800 109894801 - A g.109894800dup ENST00000424296.2 c.2192-3dup p.? intron_variant damaging Hep3B Truncating Mutation MLN chr6 33768835 33768835 G A g.33768835G>A ENST00000266003.5 c.106C>T p.Gln36X stop_gained damaging Hep3B Truncating Mutation STK31 chr7 23808794 23808794 G T g.23808794G>T ENST00000355870.3 c.1596+1G>T p.K532_splice splice_donor_variant damaging Hep3B Truncating Mutation ZAN chr7 100334940 100334940 C T g.100334940C>T ENST00000348028.3 c.581C>T p.Ala194Val missense_variant possibly damaging Hep3B Truncating Mutation ANKRD46 chr8 101540234 101540234 A T g.101540234A>T ENST00000335659.3 c.312-3T>A p.? splice_region_variant,intron_variant damaging Hep3B Truncating Mutation DPYS chr8 105393480 105393480 G - g.105393480del ENST00000351513.2 c.1506del p.Arg503GlufsX2 frameshift_variant damaging Hep3B Truncating Mutation TBC1D31 chr8 124154699 124154700 - A g.124154704dup ENST00000287380.1 c.2835+8dup p.? intron_variant damaging Hep3B Truncating Mutation TRIM35 chr8 27151831 27151831 C T g.27151831C>T ENST00000305364.4 c.532-4G>A p.? splice_region_variant,intron_variant damaging HepaRG Truncating Mutation KIFAP3 chr1 170007430 170007430 C A g.170007430C>A ENST00000361580.2 c.517+1G>T p.E173_splice splice_donor_variant damaging HepaRG Truncating Mutation RABIF chr1 202850353 202850353 T A g.202850353T>A ENST00000367262.3 c.127-2A>T p.? splice_acceptor_variant damaging HepaRG Truncating Mutation ZNF362 chr1 33747416 33747416 A G g.33747416A>G ENST00000373428.5 c.908+4A>G p.? splice_region_variant,intron_variant damaging HepaRG Truncating Mutation FAM204A chr10 120085756 120085756 C A g.120085756C>A ENST00000369172.4 c.454-1G>T p.Ser152_splice splice_acceptor_variant damaging HepaRG Truncating Mutation SORBS1 chr10 97131184 97131184 T A g.97131184T>A ENST00000361941.3 c.1804A>T p.Thr602Ser (Splice) missense_variant,splice_region_variant damaging HepaRG Truncating Mutation ALG9 chr11 111708300 111708300 G A g.111708300G>A ENST00000531154.1 c.850C>T p.Arg284X stop_gained damaging HepaRG Truncating Mutation FAM118B chr11 126131327 126131327 G - g.126131328del ENST00000533050.1 c.991del p.Val331X frameshift_variant damaging HepaRG Truncating Mutation OTOG chr11 17596437 17596437 C T g.17596437C>T ENST00000399397.1 c.2281C>T p.Gln761X stop_gained damaging HepaRG Truncating Mutation WT1 chr11 32449604 32449604 C T g.32449604C>T ENST00000379079.2 c.134G>A p.Gly45Asp (Splice) missense_variant,splice_region_variant probably damaging HepaRG Truncating Mutation NAT10 chr11 34152966 34152966 C T g.34152966C>T ENST00000257829.3 c.1408C>T p.Arg470X stop_gained damaging HepaRG Truncating Mutation NXF1 chr11 62564858 62564858 C T g.62564858C>T ENST00000294172.2 c.1054G>A p.Asp352Asn (Splice) missense_variant,splice_region_variant probably damaging HepaRG Truncating Mutation UCP3 chr11 73716772 73716772 T C g.73716772T>C ENST00000314032.4 c.541+3A>G p.? splice_region_variant,intron_variant damaging HepaRG Truncating Mutation UGT2B10 chr4 69885804 69885806 ATG - g.69885804_69885806delATG NA NA NA NA damaging HepaRG Truncating Mutation MAML2 chr11 95825718 95825718 G A g.95825718G>A ENST00000524717.1 c.1477C>T p.Gln493X stop_gained damaging HepaRG Truncating Mutation ATP2A2 chr12 110770402 110770402 A G g.110770402A>G ENST00000308664.6 c.1096A>G p.Met366Val (Splice) missense_variant,splice_region_variant damaging HepaRG Truncating Mutation TTLL13 chr15 90807291 90807291 G C g.90807291G>C ENST00000438251.1 c.2200+1G>C p.? splice_donor_variant damaging HepaRG Truncating Mutation TEKT5 chr16 10770038 10770038 C T g.10770038C>T ENST00000283025.2 c.864G>A p.Thr288Thr (Splice) splice_region_variant,synonymous_variant damaging HepaRG Truncating Mutation OTOP3 chr17 72931912 72931912 C T g.72931912C>T ENST00000328801.4 c.16C>T p.Arg6X stop_gained damaging HepaRG Truncating Mutation COMP chr19 18895105 18895106 CT - g.18895105_18895106del ENST00000222271.2 c.1982_1983del p.Glu661ValfsX40 frameshift_variant damaging HepaRG Truncating Mutation NMI chr2 152135433 152135434 - AGTT g.152135433_152135434insAGTT ENST00000243346.5 c.248_249insAACT p.Ser84ThrfsX17 frameshift_variant damaging HepaRG Truncating Mutation SOX11 chr2 5833160 5833160 G T g.5833160G>T ENST00000322002.3 c.307G>T p.Glu103X stop_gained damaging HepaRG Truncating Mutation CNGA3 chr2 99013354 99013354 C A g.99013354C>A ENST00000272602.2 c.1721C>A p.Ser574X stop_gained damaging HepaRG Truncating Mutation BMP7 chr20 55748369 55748371 GAG - g.55748369_55748371del ENST00000395863.3 c.1036-5_1036-3del p.? intron_variant damaging HepaRG Truncating Mutation SENP7 chr3 101046653 101046653 C A g.101046653C>A ENST00000394095.2 c.2872G>T p.Glu958X stop_gained damaging HepaRG Truncating Mutation GSK3B chr3 119624601 119624601 C A g.119624601C>A ENST00000264235.8 c.813+1G>T p.K271_splice splice_donor_variant damaging HepaRG Truncating Mutation CPA3 chr3 148603964 148603964 T C g.148603964T>C ENST00000296046.3 c.1066T>C p.Tyr356His (Splice) missense_variant,splice_region_variant probably damaging HepaRG Truncating Mutation WDR49 chr3 167250675 167250675 G T g.167250675G>T ENST00000308378.3 c.989C>A p.Ser330X stop_gained damaging HepaRG Truncating Mutation XYLB chr3 38418406 38418406 C A g.38418406C>A ENST00000207870.3 c.1121-3C>A p.? splice_region_variant,intron_variant damaging HepaRG Truncating Mutation TRPC7 chr5 135587337 135587337 C T g.135587337C>T ENST00000513104.1 c.1579G>A p.Ala527Thr (Splice) missense_variant,splice_region_variant possibly damaging HepaRG Truncating Mutation ENPP3 chr6 131962632 131962632 T G g.131962632T>G ENST00000357639.3 c.116T>G p.Leu39X stop_gained damaging HepaRG Truncating Mutation TMEM181 chr6 159044639 159044639 G C g.159044639G>C ENST00000367090.3 c.1365G>C p.Gln455His (Splice) missense_variant,splice_region_variant probably damaging HepaRG Truncating Mutation PEG10 chr7 94294697 94294697 T C g.94294697T>C NM_015068.3 c.1829T>C p.Leu610Pro missense_variant NA HepaRG Truncating Mutation FP15737 chr8 23431394 23431395 - T g.23431394dup ENST00000399967.3 c.267dup p.Lys90X 3_prime_UTR_variant damaging HepaRG Truncating Mutation MCPH1 chr8 6335153 6335153 G A g.6335153G>A ENST00000344683.5 c.1973+1G>A p.E658_splice splice_donor_variant damaging HepaRG Truncating Mutation NCOA2 chr8 71037104 71037105 - A g.71037104dup ENST00000452400.2 c.3917-4dup p.? intron_variant damaging HepaRG Truncating Mutation SLC35D2 chr9 99106281 99106281 G A g.99106281G>A ENST00000253270.7 c.592-3C>T p.? splice_region_variant,intron_variant damaging HepaRG Truncating Mutation JRK chr8 143747076 143747076 C - g.143747076delC NM_001077527.2 c.402del p.Trp135GlyfsX14 frameshift_variant damaging HepaRG Truncating Mutation DGKK chrX 50133339 50133339 A G g.50133339A>G NM_001013742.2 c.1913T>C p.Val638Ala missense_variant benign HepaRG Truncating Mutation DGKK chrX 50146153 50146153 T C g.50146153T>C NM_001013742.2 c.1214A>G p.Asn405Ser missense_variant probably damaging B1 Truncating Mutation AMPD2 chr1 110168849 110168849 C G g.110168849C>G ENST00000256578.3 c.583C>G p.Gln195Glu (Splice) missense_variant,splice_region_variant damaging B1 Truncating Mutation TRMT1L chr1 185121071 185121072 - A g.185121071dup ENST00000367506.5 c.236-4dup p.? intron_variant damaging B1 Truncating Mutation ABCD3 chr1 94943875 94943875 A G g.94943875A>G ENST00000315713.5 c.684+4A>G p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation CACNB2 chr10 18823159 18823159 A T g.18823159A>T ENST00000396576.2 c.1041+3A>T p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation PFKP chr10 3151543 3151543 C T g.3151543C>T ENST00000381125.4 c.964-4C>T p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation UEVLD chr11 18555876 18555876 C T g.18555876C>T ENST00000396197.3 c.1248+1G>A p.K416_splice splice_donor_variant damaging B1 Truncating Mutation ELF5 chr11 34515023 34515023 G A g.34515023G>A ENST00000257832.2 c.355+3C>T p.Gly129_splice splice_region_variant,intron_variant damaging B1 Truncating Mutation KLC2 chr11 66029645 66029645 G - g.66029645del ENST00000316924.5 c.511del p.Glu171ArgfsX35 frameshift_variant damaging B1 Truncating Mutation SLCO2B1 chr11 74915478 74915491 TTCTGTGATCTGCT - g.74915479_74915492del ENST00000289575.5 c.1984_1997del p.Ser662ArgfsX55 frameshift_variant damaging B1 Truncating Mutation SLC25A22 chr11 792664 792671 GAGGGCTG - g.792664_792671del ENST00000320230.5 c.469_476del p.Gln157SerfsX88 frameshift_variant damaging B1 Truncating Mutation CEP57 chr11 95546643 95546643 C T g.95546643C>T ENST00000325486.5 c.394C>T p.Gln132X stop_gained damaging B1 Truncating Mutation MUC19 chr12 40959494 40959494 A G g.40959494A>G XM_003846356.2 c.23980A>G p.Arg7994Gly missense_variant NA B1 Truncating Mutation TMBIM6 chr12 50152007 50152007 T C g.50152007T>C ENST00000423828.1 c.461-3T>C p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation C12orf10 chr12 53699848 53699848 A T g.53699848A>T ENST00000267103.5 c.642+4A>T p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation DCTN2 chr12 57925994 57925994 A T g.57925994A>T ENST00000434715.3 c.1042+2T>A p.Ala343_splice splice_donor_variant damaging B1 Truncating Mutation SLC6A15 chr12 85264258 85264258 A G g.85264258A>G ENST00000266682.5 c.1494T>C p.Thr498Thr (Splice) splice_region_variant,synonymous_variant damaging B1 Truncating Mutation CCER1 chr12 91348265 91348265 C T g.91348265C>T ENST00000358859.2 c.255G>A p.Trp85X stop_gained damaging B1 Truncating Mutation KLF5 chr13 73636645 73636645 C A g.73636645C>A ENST00000377687.4 c.908C>A p.Ser303X stop_gained damaging B1 Truncating Mutation ATP5S chr14 50789343 50789343 C A g.50789343C>A ENST00000245448.6 c.267C>A p.Tyr89X stop_gained damaging B1 Truncating Mutation RYR3 chr15 33873706 33873706 C T g.33873706C>T ENST00000389232.4 c.1438-3C>T p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation THBS1 chr15 39887564 39887564 T - g.39887564del ENST00000260356.5 c.3507del p.X1171AsnfsX7 frameshift_variant,splice_region_variant damaging B1 Truncating Mutation DNAH9 chr17 11597181 11597181 G A g.11597181G>A ENST00000262442.4 c.4615-4G>A p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation KRT9 chr17 39726476 39726477 - AA g.39726477_39726478dup ENST00000246662.4 c.643-5_643-4dup p.? intron_variant damaging B1 Truncating Mutation CNTNAP1 chr17 40838067 40838067 C T g.40838067C>T ENST00000264638.4 c.808C>T p.Arg270X stop_gained damaging B1 Truncating Mutation EPG5 chr18 43505701 43505701 T C g.43505701T>C ENST00000282041.5 c.2718+3A>G p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation APOB chr2 21249840 21249840 A T g.21249840A>T ENST00000233242.1 c.2068-4T>A p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation RRBP1 chr20 17602195 17602196 GA - g.17602195_17602196del ENST00000360807.4 c.2026-4_2026-3del p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation SPATA16 chr3 172766736 172766736 T C g.172766736T>C ENST00000351008.3 c.758+3A>G p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation SHISA5 chr3 48538598 48538598 C A g.48538598C>A ENST00000296444.2 c.205G>T p.Glu69X stop_gained damaging B1 Truncating Mutation QRICH1 chr3 49070664 49070664 A G g.49070664A>G ENST00000357496.2 c.1787-3T>C p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation GLRA3 chr4 175580216 175580216 T A g.175580216T>A ENST00000274093.3 c.1060A>T p.Arg354X stop_gained damaging B1 Truncating Mutation ALB chr4 74282007 74282008 AG - g.74282008_74282009del ENST00000295897.4 c.1227_1228del p.Asn410PhefsX7 frameshift_variant damaging B1 Truncating Mutation THAP9 chr4 83829036 83829037 TA - g.83829037_83829038del ENST00000302236.5 c.680_681del p.Tyr227X frameshift_variant damaging B1 Truncating Mutation ZNF622 chr5 16465627 16465627 G A g.16465627G>A ENST00000308683.2 c.148C>T p.Arg50X stop_gained damaging B1 Truncating Mutation HSF2 chr6 122744103 122744103 G C g.122744103G>C ENST00000368455.4 c.1070+1G>C p.K357_splice splice_donor_variant damaging B1 Truncating Mutation NCOA7 chr6 126236629 126236629 G A g.126236629G>A NM_001122842.2 c.2211+3G>A p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation HIST1H3I chr6 27839694 27839694 C A g.27839694C>A ENST00000328488.2 c.400G>T p.Glu134X stop_gained damaging B1 Truncating Mutation TRIM31 chr6 30076800 30076800 T C g.30076800T>C ENST00000376734.3 c.767+3A>G p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation ZCWPW1 chr7 100013667 100013667 G A g.100013667G>A ENST00000398027.2 c.682C>T p.Arg228X stop_gained damaging B1 Truncating Mutation SEMA3A chr7 83689856 83689856 C A g.83689856C>A ENST00000265362.4 c.472G>T p.Glu158X stop_gained damaging B1 Truncating Mutation SSPO chr7 149495214 149495214 G T g.149495214G>T NM_198455.2 c.6965+1G>T p.E2321_splice splice_donor_variant damaging B1 Truncating Mutation FIBCD1 chr9 133799621 133799621 C T g.133799621C>T ENST00000372338.4 c.712+3G>A p.? splice_region_variant,intron_variant damaging B1 Truncating Mutation CAAP1 chr9 26892555 26892558 GCTG - g.26892555_26892558del ENST00000333916.5 c.156_159del p.Ser53AlafsX76 frameshift_variant damaging B1 Truncating Mutation SMC1A chrX 53435992 53435992 C A g.53435992C>A ENST00000322213.4 c.1545+1G>T p.Val515_splice splice_donor_variant damaging B1 Truncating Mutation SMC1A chrX 53435993 53435993 C T g.53435993C>T ENST00000322213.4 c.1545G>A p.Val515Val (Splice) splice_region_variant,synonymous_variant damaging HCC-1.2 Truncating Mutation CD48 chr1 160650958 160650959 - TG g.160650958_160650959insTG NM_001256030.1 c.685_686insC p.Gln229ProfsX71 frameshift_variant damaging HCC-1.2 Truncating Mutation TMEM222 chr1 27660545 27660545 G T g.27660545G>T ENST00000374076.4 c.408G>T p.Met136Ile (Splice) missense_variant,splice_region_variant probably damaging HCC-1.2 Truncating Mutation GJA9 chr1 39341300 39341300 A T g.39341300A>T ENST00000357771.3 c.471T>A p.Tyr157X stop_gained damaging HCC-1.2 Truncating Mutation TNNI3K chr1 75009591 75009591 C A g.75009591C>A ENST00000326637.3 c.2433C>A p.Gly811Gly (Splice) splice_region_variant,synonymous_variant damaging HCC-1.2 Truncating Mutation RNF214 chr11 117152313 117152313 T A g.117152313T>A ENST00000300650.4 c.1237-3T>A p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation PRR5L chr11 36483922 36483922 T C g.36483922T>C ENST00000378867.3 c.743T>C p.Val248Ala missense_variant benign HCC-1.2 Truncating Mutation ASRGL1 chr11 62124617 62124617 G A g.62124617G>A ENST00000301776.5 c.491+1G>A p.K164_splice splice_donor_variant damaging HCC-1.2 Truncating Mutation ACACB chr12 109637360 109637360 G A g.109637360G>A ENST00000338432.7 c.2778+3G>A p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation PARP2 chr14 20811816 20811816 C T g.20811816C>T ENST00000250416.5 c.16C>T p.Arg6X stop_gained damaging HCC-1.2 Truncating Mutation CEP128 chr14 81244223 81244223 T C g.81244223T>C ENST00000281129.3 c.2376+3A>G p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation PLA2G4F chr15 42447715 42447715 G T g.42447715G>T ENST00000382396.4 c.184C>A p.Leu62Met (Splice) missense_variant,splice_region_variant possibly damaging HCC-1.2 Truncating Mutation CHD2 chr15 93485189 93485189 T C g.93485189T>C ENST00000394196.4 c.826+4T>C p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation CASKIN1 chr16 2239421 2239421 A G g.2239421A>G ENST00000343516.6 c.389T>C p.Val130Ala (Splice) missense_variant,splice_region_variant possibly damaging HCC-1.2 Truncating Mutation DOT1L chr19 2211148 2211148 C T g.2211148C>T ENST00000398665.3 c.1402C>T p.Gln468X stop_gained damaging HCC-1.2 Truncating Mutation KMT2B chr19 36219676 36219676 G T g.36219676G>T ENST00000222270.7 c.4573G>T p.Gly1525X stop_gained,splice_region_variant damaging HCC-1.2 Truncating Mutation LRP2 chr2 169997025 169997026 - G g.169997025dup ENST00000263816.3 c.13139dup p.Cys4381MetfsX12 frameshift_variant damaging HCC-1.2 Truncating Mutation SP3 chr2 174819974 174819977 ATGG - g.174819974_174819977del ENST00000310015.6 c.1263_1266del p.Ile421MetfsX22 frameshift_variant damaging HCC-1.2 Truncating Mutation CERKL chr2 182402924 182402924 A - g.182402924del ENST00000339098.5 c.1664del p.Met555ArgfsX7 frameshift_variant damaging HCC-1.2 Truncating Mutation CUL3 chr2 225379325 225379325 T C g.225379325T>C ENST00000264414.4 c.539+4A>G p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation AAR2 chr20 34828142 34828143 - C g.34828142dup ENST00000320849.4 c.352dup p.Leu118ProfsX67 frameshift_variant damaging HCC-1.2 Truncating Mutation IFT27 chr22 37159962 37159962 C A g.37159962C>A ENST00000433985.2 c.352+1G>T p.Gly118_splice splice_donor_variant damaging HCC-1.2 Truncating Mutation PNPLA5 chr22 44287731 44287731 C - g.44287731del ENST00000216177.4 c.30del p.Trp10X frameshift_variant damaging HCC-1.2 Truncating Mutation ACVR2B chr3 38518882 38518882 C T g.38518882C>T ENST00000352511.4 c.157C>T p.Gln53X stop_gained damaging HCC-1.2 Truncating Mutation SCN11A chr3 38950686 38950686 C G g.38950686C>G ENST00000302328.3 c.1102-1G>C p.Thr368_splice splice_acceptor_variant damaging HCC-1.2 Truncating Mutation LARS2 chr3 45500382 45500382 A T g.45500382A>T ENST00000265537.3 c.750+4A>T p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation THUMPD3 chr3 9426235 9426235 C T g.9426235C>T ENST00000345094.3 c.1387C>T p.Arg463X stop_gained damaging HCC-1.2 Truncating Mutation GABRA6 chr5 161115971 161115972 - T g.161115977dup ENST00000274545.5 c.248dup p.Arg84ProfsX6 frameshift_variant damaging HCC-1.2 Truncating Mutation C5orf34 chr5 43508680 43508680 T - g.43508680del ENST00000306862.2 c.284del p.Lys95SerfsX7 frameshift_variant,splice_region_variant damaging HCC-1.2 Truncating Mutation ANKDD1B chr5 74912625 74912625 T A g.74912625T>A ENST00000601380.2 c.194-4T>A p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation ANKDD1B chr5 74912626 74912626 C A g.74912626C>A ENST00000601380.2 c.194-3C>A p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation KATNA1 chr6 149919411 149919411 C A g.149919411C>A ENST00000335647.5 c.964G>T p.Glu322X stop_gained damaging HCC-1.2 Truncating Mutation GRIP2 chr3 14548473 14548473 C T g.14548473C>T XM_005265500.1 c.2528G>A p.Arg843His missense_variant benign HCC-1.2 Truncating Mutation AMPH chr7 38505063 38505063 C A g.38505063C>A ENST00000325590.5 c.749+4G>T p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation KDELR2 chr7 6502810 6502810 G T g.6502810G>T ENST00000490996.1 c.352-4C>A p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation PKHD1L1 chr8 110461564 110461564 T A g.110461564T>A ENST00000378402.5 c.6026-3T>A p.? splice_region_variant,intron_variant damaging HCC-1.2 Truncating Mutation GPRASP1 chrX 101912889 101912889 A - g.101912894del ENST00000361600.5 c.4053del p.Glu1352LysfsX48 frameshift_variant damaging HCC-3 Truncating Mutation TRIM33 chr1 114964060 114964060 G A g.114964060G>A ENST00000358465.2 c.2059C>T p.Gln687X stop_gained,splice_region_variant damaging HCC-3 Truncating Mutation UBR4 chr1 19454237 19454237 C A g.19454237C>A ENST00000375254.3 c.9112-4G>T p.? splice_region_variant,intron_variant damaging HCC-3 Truncating Mutation IL20 chr1 207039658 207039658 A - g.207039660del ENST00000367096.3 c.176del p.Asn59ThrfsX7 frameshift_variant damaging HCC-3 Truncating Mutation ZMYM4 chr1 35864011 35864011 T C g.35864011T>C ENST00000314607.6 c.3200-3T>C p.? splice_region_variant,intron_variant damaging HCC-3 Truncating Mutation MIER1 chr1 67424670 67424670 A G g.67424670A>G ENST00000371014.1 c.634+4A>G p.? splice_region_variant,intron_variant damaging HCC-3 Truncating Mutation ATF7IP chr12 14576961 14576961 A T g.14576961A>T ENST00000261168.4 c.112A>T p.Lys38X stop_gained damaging HCC-3 Truncating Mutation PLA2G4E chr15 42305883 42305883 G A g.42305883G>A ENST00000399518.3 c.256C>T p.Leu86Leu (Splice) splice_region_variant,synonymous_variant damaging HCC-3 Truncating Mutation CILP chr15 65489662 65489662 G A g.65489662G>A ENST00000261883.4 c.2962C>T p.Arg988X stop_gained damaging HCC-3 Truncating Mutation TP53 chr17 7578475 7578476 - G g.7578475dup ENST00000269305.4 c.455dup p.Pro153AlafsX28 frameshift_variant damaging HCC-3 Truncating Mutation ABCA6 chr17 67111627 67111627 C A g.67111627C>A ENST00000284425.2 c.1496G>T p.Gly499Val (Splice) missense_variant,splice_region_variant probably damaging HCC-3 Truncating Mutation ZNF24 chr18 32920296 32920296 C A g.32920296C>A ENST00000261332.6 c.319G>T p.Glu107X stop_gained damaging HCC-3 Truncating Mutation TXNL4A chr18 77748321 77748337 GCGGTCCTCCTCCGAGA - g.77748321_77748337del ENST00000269601.5 c.56_72del p.Leu19ArgfsX29 frameshift_variant damaging HCC-3 Truncating Mutation C19orf10 chr19 4659994 4659994 C A g.4659994C>A ENST00000262947.3 c.391G>T p.Glu131X stop_gained damaging HCC-3 Truncating Mutation NBAS chr2 15601813 15601813 G A g.15601813G>A ENST00000281513.5 c.2200C>T p.Gln734X stop_gained,splice_region_variant damaging HCC-3 Truncating Mutation ITSN2 chr2 24524062 24524062 G A g.24524062G>A ENST00000355123.4 c.1042C>T p.Gln348X stop_gained damaging HCC-3 Truncating Mutation CLHC1 chr2 55439809 55439809 C T g.55439809C>T ENST00000401408.1 c.499G>A p.Gly167Ser (Splice) missense_variant,splice_region_variant probably damaging HCC-3 Truncating Mutation VAMP5 chr2 85820069 85820069 A G g.85820069A>G ENST00000306384.4 c.142-2A>G p.S48_splice splice_acceptor_variant damaging HCC-3 Truncating Mutation SPON1 chr11 14284325 14284325 C T g.14284325C>T NM_006108.3 c.2063C>T p.His688%3D synonymous_variant NA HCC-3 Truncating Mutation COL9A3 chr20 61449904 61449904 C T g.61449904C>T ENST00000343916.3 c.182C>T p.Pro61Leu (Splice) missense_variant,splice_region_variant damaging HCC-3 Truncating Mutation MMP11 chr22 24121545 24121545 C T g.24121545C>T ENST00000215743.3 c.280C>T p.Arg94X stop_gained damaging HCC-3 Truncating Mutation ALS2CL chr3 46718338 46718338 C A g.46718338C>A ENST00000318962.4 c.1931+1G>T p.R644_splice splice_donor_variant damaging HCC-3 Truncating Mutation MST1R chr3 49933298 49933298 C A g.49933298C>A ENST00000296474.3 c.2812G>T p.Glu938X stop_gained damaging HCC-3 Truncating Mutation STAB1 chr3 52552832 52552832 C T g.52552832C>T ENST00000321725.6 c.4981C>T p.Gln1661X stop_gained damaging HCC-3 Truncating Mutation FOXI3 chr2 88747811 88747811 C G g.88747811C>G NM_001135649.1 c.1177G>C p.Gly393Ala missense_variant benign HCC-3 Truncating Mutation ATF6B chr6 32087734 32087734 A T g.32087734A>T ENST00000375203.3 c.833T>A p.Val278Glu (Splice) missense_variant,splice_region_variant probably damaging HCC-3 Truncating Mutation DNAH8 chr6 38997882 38997882 A T g.38997882A>T ENST00000359357.3 c.13187A>T p.E4396V (Splice) missense_variant,splice_region_variant probably damaging HCC-3 Truncating Mutation ASAP1 chr8 131191511 131191511 T C g.131191511T>C ENST00000357668.1 c.745A>G p.Asn249Asp (Splice) missense_variant,splice_region_variant probably damaging HCC-1.1 Truncating Mutation SEC16B chr1 177930065 177930065 G T g.177930065G>T ENST00000308284.6 c.797C>A p.Ser266X stop_gained damaging HCC-1.1 Truncating Mutation CFAP74 chr1 1920400 1920400 A C g.1920400A>C NM_001080484.1 c.80T>G p.Leu27X stop_gained damaging HCC-1.1 Truncating Mutation MIXL1 chr1 226413300 226413300 T A g.226413300T>A ENST00000366810.5 c.486T>A p.Cys162X stop_gained damaging HCC-1.1 Truncating Mutation ZNF683 chr1 26695014 26695015 - CCAT g.26695014_26695015insCCAT ENST00000349618.3 c.48_49insATGG p.Ala17MetfsX22 frameshift_variant damaging HCC-1.1 Truncating Mutation GLIS1 chr1 54060012 54060019 GCCTGCCA - g.54060012_54060019del ENST00000312233.2 c.557_564del p.Leu186GlnfsX19 frameshift_variant damaging HCC-1.1 Truncating Mutation ADAMTS14 chr10 72492011 72492011 G A g.72492011G>A ENST00000373207.1 c.1104G>A p.Gly368Gly (Splice) splice_region_variant,synonymous_variant damaging HCC-1.1 Truncating Mutation USH1C chr11 17552957 17552958 - GGGGGTCT g.17552957_17552958insGGGGGTCT ENST00000005226.7 c.236_237insAGACCCCC p.Arg80AspfsX9 frameshift_variant damaging HCC-1.1 Truncating Mutation MS4A2 chr11 59861473 59861473 G T g.59861473G>T ENST00000278888.3 c.574G>T p.Gly192X stop_gained damaging HCC-1.1 Truncating Mutation SLC36A4 chr11 92881703 92881703 C G g.92881703C>G ENST00000326402.4 c.1515G>C p.X505TyrextX2 stop_lost damaging HCC-1.1 Truncating Mutation TGM1 chr14 24729019 24729019 T C g.24729019T>C ENST00000206765.6 c.877-2A>G p.F293_splice splice_acceptor_variant damaging HCC-1.1 Truncating Mutation SPTBN5 chr15 42153617 42153617 C T g.42153617C>T ENST00000320955.6 c.7815G>A p.Trp2605X stop_gained,splice_region_variant damaging HCC-1.1 Truncating Mutation SLC9A5 chr16 67292354 67292354 G T g.67292354G>T ENST00000299798.11 c.1626+4G>T p.? splice_region_variant,intron_variant damaging HCC-1.1 Truncating Mutation TP53 chr17 7578177 7578177 C G g.7578177C>G ENST00000269305.4 c.672G>C p.Glu224Asp (Splice) missense_variant,splice_region_variant damaging HCC-1.1 Truncating Mutation CBX4 chr17 77812856 77812856 G - g.77812856del ENST00000269397.4 c.70-3del p.? splice_region_variant,intron_variant damaging HCC-1.1 Truncating Mutation ZNF587 chr19 58370687 58370687 A T g.58370687A>T ENST00000339656.5 c.907A>T p.Lys303X stop_gained damaging HCC-1.1 Truncating Mutation ITSN2 chr2 24427287 24427305 CCTGAACAAAAACAAACCA - g.24427287_24427305del ENST00000355123.4 c.4763-18_4763del p.G1588_splice splice_acceptor_variant,coding_sequence_variant,intron_variant damaging HCC-1.1 Truncating Mutation DYNC2LI1 chr2 44028057 44028057 G T g.44028057G>T ENST00000605786.1 c.734+1G>T p.S244_splice splice_donor_variant damaging HCC-1.1 Truncating Mutation PNLIPRP2 chr10 118387283 118387283 G C g.118387283G>C NM_005396.4 c.477G>C p.Gly160Arg missense_variant benign HCC-1.1 Truncating Mutation ALCAM chr3 105250914 105250914 A C g.105250914A>C ENST00000306107.5 c.459+4A>C p.? splice_region_variant,intron_variant damaging HCC-1.1 Truncating Mutation DNAH12 chr3 57399498 57399498 G A g.57399498G>A ENST00000351747.2 c.5938C>T p.Arg1980X stop_gained damaging HCC-1.1 Truncating Mutation CPNE9 chr3 9747147 9747147 G - g.9747148del ENST00000383831.3 c.261del p.Tyr88ThrfsX26 splice_acceptor_variant damaging HCC-1.1 Truncating Mutation SCLT1 chr4 129869725 129869725 C T g.129869725C>T ENST00000281142.5 c.1219G>A p.Glu407Lys (Splice) missense_variant,splice_region_variant damaging HCC-1.1 Truncating Mutation TRIM60 chr4 165962269 165962269 C T g.165962269C>T ENST00000341062.5 c.1045C>T p.Arg349X stop_gained damaging HCC-1.1 Truncating Mutation ALB chr4 74275136 74275137 - AA g.74275137_74275138dup ENST00000295897.4 c.549_550dup p.Arg184LysfsX58 frameshift_variant damaging HCC-1.1 Truncating Mutation HINT1 chr5 130500789 130500789 C G g.130500789C>G ENST00000304043.5 c.110G>C p.Arg37Pro (Splice) missense_variant,splice_region_variant damaging HCC-1.1 Truncating Mutation TXNDC15 chr5 134231981 134231981 T C g.134231981T>C ENST00000358387.4 c.756-3T>C p.? splice_region_variant,intron_variant damaging HCC-1.1 Truncating Mutation VCAN chr5 82836430 82836431 - A g.82836436dup ENST00000265077.3 c.7614dup p.Pro2539ThrfsX3 frameshift_variant damaging HCC-1.1 Truncating Mutation CSPP1 chr8 68030480 68030480 C T g.68030480C>T ENST00000262210.5 c.1482-3C>T p.? splice_region_variant,intron_variant damaging HCC-1.1 Truncating Mutation MAGEC1 chrX 140995824 140995824 T A g.140995824T>A ENST00000285879.4 c.2634T>A p.Tyr878X stop_gained damaging SNU182 Truncating Mutation THYN1 chr11 134118857 134118857 T C g.134118857T>C ENST00000341541.3 c.481-4A>G p.? splice_region_variant,intron_variant damaging SNU182 Truncating Mutation OR5T1 chr11 56043312 56043312 G A g.56043312G>A ENST00000313033.2 c.198G>A p.Trp66X stop_gained damaging SNU182 Truncating Mutation KRR1 chr12 75900344 75900345 - T g.75900344dup ENST00000229214.4 c.439dup p.Ile147AsnfsX8 frameshift_variant damaging SNU182 Truncating Mutation SYNE2 chr14 64484352 64484352 C T g.64484352C>T ENST00000344113.4 c.4927C>T p.Arg1643X stop_gained damaging SNU182 Truncating Mutation MARVELD3 chr16 71660562 71660562 C T g.71660562C>T ENST00000268485.3 c.430C>T p.Gln144X stop_gained damaging SNU182 Truncating Mutation TTC19 chr17 15909826 15909826 C A g.15909826C>A ENST00000261647.5 c.620C>A p.Ser207X stop_gained damaging SNU182 Truncating Mutation MYO18A chr17 27426649 27426649 C T g.27426649C>T ENST00000354329.4 c.3636+3G>A p.? splice_region_variant,intron_variant damaging SNU182 Truncating Mutation PCTP chr17 53852185 53852185 C T g.53852185C>T ENST00000268896.5 c.544C>T p.Gln182X stop_gained damaging SNU182 Truncating Mutation MUC16 chr19 9001896 9001896 G A g.9001896G>A ENST00000397910.4 c.40352C>T p.Thr13451Ile (Splice) missense_variant,splice_region_variant probably damaging SNU182 Truncating Mutation BAZ2B chr2 160204016 160204016 G T g.160204016G>T ENST00000392783.2 c.5435C>A p.Ser1812X stop_gained damaging SNU182 Truncating Mutation GPR1 chr2 207041266 207041266 G A g.207041266G>A ENST00000407325.2 c.706C>T p.Arg236X stop_gained damaging SNU182 Truncating Mutation MAP3K7CL chr21 30463993 30463994 - G g.30463994dup ENST00000286791.5 c.139dup p.Glu47GlyfsX11 frameshift_variant damaging SNU182 Truncating Mutation GPHB5 chr14 63779834 63779834 T A g.63779834T>A NM_145171.3 c.204-4A>T p.? splice_region_variant,intron_variant damaging SNU182 Truncating Mutation PARVB chr22 44564483 44564483 C T g.44564483C>T ENST00000338758.7 c.1020C>T p.D340D (Splice) splice_region_variant,synonymous_variant damaging SNU182 Truncating Mutation PIK3R4 chr3 130409498 130409498 T A g.130409498T>A ENST00000356763.3 c.3099A>T p.Arg1033Ser (Splice) missense_variant,splice_region_variant probably damaging SNU182 Truncating Mutation KIF9 chr3 47305844 47305844 C A g.47305844C>A ENST00000265529.3 c.917-4G>T p.? splice_region_variant,intron_variant damaging SNU182 Truncating Mutation SEMA3F chr3 50211665 50211665 G T g.50211665G>T ENST00000002829.3 c.338G>T p.Gly113Val (Splice) missense_variant,splice_region_variant probably damaging SNU182 Truncating Mutation FREM3 chr4 144614358 144614359 - A g.144614358dup ENST00000329798.5 c.5186-3dup p.? intron_variant damaging SNU182 Truncating Mutation TMEM232 chr5 109864539 109864539 G A g.109864539G>A ENST00000455884.2 c.1456-3C>T p.? splice_region_variant,intron_variant damaging SNU182 Truncating Mutation FAT2 chr5 150947855 150947855 C T g.150947855C>T ENST00000261800.5 c.638G>A p.Trp213X stop_gained damaging SNU182 Truncating Mutation ADH1C chr4 100268304 100268304 A G g.100268304A>G ENST00000515683.1 c.121-3T>C p.? splice_region_variant,intron_variant damaging SNU182 Truncating Mutation TRRAP chr7 98559096 98559096 G A g.98559096G>A ENST00000355540.3 c.6627G>A p.Pro2227Pro (Splice) splice_region_variant,synonymous_variant damaging SNU182 Truncating Mutation DENND3 chr8 142161937 142161938 - GTTA g.142161937_142161938insGTTA ENST00000262585.2 c.834+1_834+2insGTTA p.? splice_donor_variant damaging SNU387 Truncating Mutation LCE1F chr1 152748895 152748895 C A g.152748895C>A ENST00000334371.2 c.48C>A p.Cys16X stop_gained damaging SNU387 Truncating Mutation OR10X1 chr1 158549056 158549056 C A g.158549056C>A ENST00000368150.1 c.634G>T p.Glu212X stop_gained damaging SNU387 Truncating Mutation POLL chr10 103339293 103339293 G A g.103339293G>A ENST00000299206.4 c.1645C>T p.Arg549X stop_gained damaging SNU387 Truncating Mutation NSUN6 chr10 18840868 18840868 G A g.18840868G>A ENST00000377304.4 c.955C>T p.Arg319X stop_gained damaging SNU387 Truncating Mutation RET chr10 43613929 43613929 G C g.43613929G>C ENST00000340058.5 c.2392+1G>C p.G798_splice splice_donor_variant damaging SNU387 Truncating Mutation NFRKB chr11 129744684 129744684 A C g.129744684A>C ENST00000304521.5 c.1978+4T>G p.? splice_region_variant,intron_variant damaging SNU387 Truncating Mutation UTP20 chr12 101767180 101767180 T C g.101767180T>C ENST00000261637.4 c.6880T>C p.Tyr2294His (Splice) missense_variant,splice_region_variant probably damaging SNU387 Truncating Mutation SLC15A5 chr12 16347278 16347278 C G g.16347278C>G ENST00000344941.3 c.1592+1G>C p.? splice_donor_variant damaging SNU387 Truncating Mutation RAPGEF3 chr12 48140643 48140643 C G g.48140643C>G ENST00000389212.3 c.1596G>C p.Lys532Asn (Splice) missense_variant,splice_region_variant possibly damaging SNU387 Truncating Mutation NR2C1 chr12 95456513 95456513 A G g.95456513A>G ENST00000330677.7 c.56T>C p.Ile19Thr (Splice) missense_variant,splice_region_variant possibly damaging SNU387 Truncating Mutation IRS2 chr13 110437552 110437570 GATGTTCTGCGCCACCACC - g.110437552_110437570del ENST00000375856.3 c.831_849del p.Val278ThrfsX8 frameshift_variant damaging SNU387 Truncating Mutation KTN1 chr14 56145163 56145163 G T g.56145163G>T ENST00000395309.3 c.3948+1G>T p.T1316_splice splice_donor_variant damaging SNU387 Truncating Mutation ATP6V1D chr14 67810144 67810148 AACAA - g.67810144_67810148del ENST00000216442.7 c.464_468del p.Phe155TyrfsX4 frameshift_variant damaging SNU387 Truncating Mutation SLFN14 chr17 33880197 33880197 G A g.33880197G>A ENST00000415846.3 c.1456C>T p.Arg486X stop_gained damaging SNU387 Truncating Mutation BPTF chr17 65900037 65900037 A G g.65900037A>G ENST00000321892.4 c.3051+3A>G p.? splice_region_variant,intron_variant damaging SNU387 Truncating Mutation TP53 chr17 7578440 7578440 T A g.7578440T>A ENST00000269305.4 c.490A>T p.Lys164X stop_gained damaging SNU387 Truncating Mutation ZNF230 chr19 44514642 44514642 G - g.44514642del ENST00000429154.2 c.451del p.Asp151MetfsX41 frameshift_variant damaging SNU387 Truncating Mutation CEACAM19 chr19 45185840 45185840 C T g.45185840C>T ENST00000358777.4 c.794C>T p.Pro265Leu (Splice) missense_variant,splice_region_variant possibly damaging SNU387 Truncating Mutation BCAM chr19 45321778 45321778 G T g.45321778G>T ENST00000270233.6 c.1079-1G>T p.Y360_splice splice_acceptor_variant damaging SNU387 Truncating Mutation ZNF446 chr19 58991896 58991896 C T g.58991896C>T ENST00000594369.1 c.1156C>T p.Arg386X stop_gained damaging SNU387 Truncating Mutation MZF1 chr19 59081711 59081711 C G g.59081711C>G ENST00000215057.2 c.580G>C p.Asp194His (Splice) missense_variant,splice_region_variant damaging SNU387 Truncating Mutation FGF22 chr19 640026 640027 CG - g.640027_640028del ENST00000215530.5 c.102_103del p.His35ProfsX139 frameshift_variant damaging SNU387 Truncating Mutation CLASP1 chr2 122120748 122120748 C A g.122120748C>A ENST00000263710.4 c.4206G>T p.Glu1402Asp (Splice) missense_variant,splice_region_variant probably damaging SNU387 Truncating Mutation CCDC74B chr2 130902321 130902321 C G g.130902321C>G ENST00000310463.6 c.249G>C p.Lys83Asn (Splice) missense_variant,splice_region_variant damaging SNU387 Truncating Mutation MYO1B chr2 192248071 192248071 G A g.192248071G>A ENST00000304164.4 c.1353+3G>A p.? splice_region_variant,intron_variant damaging SNU387 Truncating Mutation NDUFAF7 chr2 37458849 37458849 A G g.37458849A>G ENST00000002125.4 c.1A>G p.Met1? start_lost benign SNU387 Truncating Mutation KIAA1407 chr3 113737653 113737654 - C g.113737653dup ENST00000295878.3 c.1035dup p.Lys346GlufsX7 frameshift_variant damaging SNU387 Truncating Mutation RP11-723O4.6 chr3 128664654 128664655 - G g.128664654_128664655insG ENST00000508239.1 c.156dup p.Met53HisfsX48 frameshift_variant damaging SNU387 Truncating Mutation LRIG1 chr3 66455701 66455701 C G g.66455701C>G ENST00000273261.3 c.1081G>C p.Asp361His (Splice) missense_variant,splice_region_variant damaging SNU387 Truncating Mutation NRG2 chr5 139232148 139232148 G A g.139232148G>A ENST00000541337.1 c.1219-4C>T p.? splice_region_variant,intron_variant damaging SNU387 Truncating Mutation FAM153B chr5 175526020 175526020 G A g.175526020G>A ENST00000508296.1 c.307-4G>A p.? splice_region_variant,intron_variant,NMD_transcript_variant damaging SNU387 Truncating Mutation HSPA1B chr6 31795730 31795749 GGCCAAAGCCGCGGCGATCG - g.31795731_31795750del ENST00000375650.3 c.4_23del p.Ala2HisfsX61 frameshift_variant,start_lost damaging SNU387 Truncating Mutation RGS22 chr8 101075994 101075995 CT - g.101075994_101075995del ENST00000360863.6 c.1001_1002del p.Lys334ThrfsX20 frameshift_variant damaging SNU387 Truncating Mutation KCNU1 chr8 36698484 36698484 G - g.36698484del ENST00000399881.3 c.1666del p.Ala556ProfsX15 frameshift_variant damaging SNU387 Truncating Mutation SH2D3C chr9 130536684 130536684 G A g.130536684G>A ENST00000314830.8 c.100C>T p.Arg34X stop_gained damaging SNU387 Truncating Mutation NOTCH1 chr9 139413893 139413893 G A g.139413893G>A ENST00000277541.6 c.865+2C>T p.G289_splice splice_donor_variant damaging SNU387 Truncating Mutation PNPLA7 chr9 140375409 140375409 C T g.140375409C>T ENST00000406427.1 c.2411+3G>A p.? splice_region_variant,intron_variant damaging SNU387 Truncating Mutation DMD chrX 32490426 32490426 A C g.32490426A>C ENST00000357033.4 c.2804T>G p.Ile935Ser (Splice) missense_variant,splice_region_variant damaging SNU398 Truncating Mutation PDE4DIP chr1 144918994 144918994 G T g.144918994G>T ENST00000313431.9 c.1684-3C>A p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation BNIPL chr1 151018541 151018541 A G g.151018541A>G ENST00000295294.7 c.693-2A>G p.S313_splice splice_acceptor_variant damaging SNU398 Truncating Mutation VWA5B1 chr1 20644099 20644099 G T g.20644099G>T ENST00000289815.8 c.640G>T p.Glu214X stop_gained damaging SNU398 Truncating Mutation TECTB chr10 114057962 114057962 C A g.114057962C>A ENST00000369422.3 c.807C>A p.Cys269X stop_gained damaging SNU398 Truncating Mutation ZNF37A chr10 38407179 38407182 AGTC - g.38407183_38407186del ENST00000351773.3 c.1104_1107del p.Val369LeufsX61 frameshift_variant damaging SNU398 Truncating Mutation TMEM223 chr11 62559465 62559465 A G g.62559465A>G ENST00000307366.7 c.2T>C p.Met1? start_lost possibly damaging SNU398 Truncating Mutation PYGM chr11 64522741 64522741 G A g.64522741G>A ENST00000377432.3 c.591+4C>T p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation CACNA1C chr12 2789745 2789745 C G g.2789745C>G NM_001167625.1 c.5624+4C>G p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation ADAMTS20 chr12 43895955 43895955 A C g.43895955A>C ENST00000389420.3 c.867T>G p.Ile289Met (Splice) missense_variant,splice_region_variant probably damaging SNU398 Truncating Mutation ENDOU chr12 48110670 48110670 C T g.48110670C>T ENST00000422538.3 c.551+3G>A p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation GPD1 chr12 50501586 50501586 G C g.50501586G>C ENST00000301149.3 c.846+3G>C p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation GLIPR1L1 chr12 75741503 75741503 G A g.75741503G>A ENST00000312442.2 c.521+1G>A p.A174_splice splice_donor_variant damaging SNU398 Truncating Mutation OTOGL chr12 80632628 80632628 T A g.80632628T>A ENST00000458043.2 c.791-3T>A p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation STK24 chr13 99134575 99134575 C T g.99134575C>T ENST00000376547.3 c.310G>A p.Asp104Asn (Splice) missense_variant,splice_region_variant damaging SNU398 Truncating Mutation LGALS3 chr14 55604096 55604099 CAGA - g.55604098_55604101del ENST00000254301.9 c.7_10del p.Asp3IlefsX111 frameshift_variant damaging SNU398 Truncating Mutation RYR3 chr15 34042259 34042259 A G g.34042259A>G ENST00000389232.4 c.8275+4A>G p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation AC006449.1 chr17 36884441 36884442 - A g.36884441dup ENST00000595377.1 c.11dup p.Lys7GlufsX20 frameshift_variant damaging SNU398 Truncating Mutation TP53 chr17 7578177 7578177 C T g.7578177C>T ENST00000269305.4 c.672G>A p.E224E (Splice) splice_region_variant,synonymous_variant damaging SNU398 Truncating Mutation CDH7 chr18 63511063 63511063 G - g.63511063del ENST00000323011.3 c.997del p.Ala333ProfsX9 frameshift_variant damaging SNU398 Truncating Mutation STAP2 chr19 4326998 4326999 - A g.4326998dup ENST00000594605.1 c.770dup p.Glu258GlyfsX4 frameshift_variant damaging SNU398 Truncating Mutation ZNF175 chr19 52084691 52084692 - G g.52084691dup ENST00000262259.2 c.120dup p.Trp41ValfsX21 frameshift_variant damaging SNU398 Truncating Mutation OR10J4 chr1 159402037 159402037 A T g.159402037A>T ENST00000504970.1 c.44A>T p.Glu15Val missense_variant NA SNU398 Truncating Mutation PPM1F chr22 22277521 22277521 G A g.22277521G>A ENST00000263212.5 c.1309C>T p.Gln437X stop_gained damaging SNU398 Truncating Mutation COLQ chr3 15497405 15497405 C T g.15497405C>T ENST00000383788.5 c.1195+1G>A p.R399_splice splice_donor_variant damaging SNU398 Truncating Mutation STT3B chr3 31663780 31663780 C T g.31663780C>T ENST00000295770.2 c.1519C>T p.Gln507X stop_gained damaging SNU398 Truncating Mutation ATXN7 chr3 63983318 63983318 C T g.63983318C>T ENST00000398590.3 c.2683C>T p.Arg895X stop_gained damaging SNU398 Truncating Mutation UGDH chr4 39501795 39501796 - G g.39501795dup ENST00000316423.6 c.1453dup p.Gln485ProfsX5 frameshift_variant damaging SNU398 Truncating Mutation WDFY3 chr4 85750239 85750245 CTTTGAG - g.85750239_85750245del ENST00000295888.4 c.868_874del p.Leu290IlefsX41 frameshift_variant damaging SNU398 Truncating Mutation ESR1 chr6 152201836 152201836 T - g.152201836del ENST00000206249.3 c.690del p.Asp230GlufsX21 frameshift_variant damaging SNU398 Truncating Mutation NUP153 chr6 17633078 17633078 A G g.17633078A>G ENST00000262077.2 c.2465-3T>C p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation FANCE chr6 35430691 35430691 C T g.35430691C>T ENST00000229769.2 c.1509C>T p.N503N (Splice) splice_region_variant,synonymous_variant damaging SNU398 Truncating Mutation TREM1 chr6 41243972 41243972 C T g.41243972C>T ENST00000244709.4 c.600-4G>A p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation GRIP2 chr3 14554334 14554334 G A g.14554334G>A XM_005265500.1 c.1965C>T p.His655%3D synonymous_variant NA SNU398 Truncating Mutation FAM188B chr7 30890171 30890171 T G g.30890171T>G ENST00000265299.6 c.1547T>G p.Leu516Arg (Splice) missense_variant,splice_region_variant probably damaging SNU398 Truncating Mutation COL28A1 chr7 7410512 7410512 G C g.7410512G>C ENST00000399429.3 c.2910C>G p.Asp970Glu (Splice) missense_variant,splice_region_variant damaging SNU398 Truncating Mutation RP1L1 chr8 10480388 10480389 - A g.10480388_10480389insA ENST00000382483.3 c.323_324insT p.Lys108AsnfsX30 frameshift_variant damaging SNU398 Truncating Mutation ZMAT4 chr8 40554924 40554924 C T g.40554924C>T ENST00000297737.6 c.193-4G>A p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation CHMP4C chr8 82670377 82670377 G A g.82670377G>A ENST00000297265.4 c.484G>A p.Asp162Asn (Splice) missense_variant,splice_region_variant probably damaging SNU398 Truncating Mutation SMARCA2 chr9 2119509 2119509 C T g.2119509C>T ENST00000349721.2 c.3736C>T p.Arg1246X stop_gained damaging SNU398 Truncating Mutation RNF38 chr9 36369932 36369932 G A g.36369932G>A ENST00000259605.6 c.357-3C>T p.? splice_region_variant,intron_variant damaging SNU398 Truncating Mutation MAGEA8 chrX 149013862 149013862 C G g.149013862C>G ENST00000286482.1 c.816C>G p.Tyr272X stop_gained damaging SNU423 Truncating Mutation TARBP1 chr1 234561540 234561540 C T g.234561540C>T ENST00000040877.1 c.3324-1G>A p.N1108_splice splice_acceptor_variant damaging SNU423 Truncating Mutation ARID1A chr1 27059230 27059230 G T g.27059230G>T ENST00000324856.7 c.1867G>T p.Gly623X stop_gained damaging SNU423 Truncating Mutation CARS chr11 3023193 3023193 T C g.3023193T>C NM_001194997.1 c.2368A>G p.Met790Val (Splice) missense_variant,splice_region_variant damaging SNU423 Truncating Mutation TMEM126A chr11 85361326 85361326 G - g.85361327del ENST00000304511.2 c.28del p.Glu10LysfsX3 frameshift_variant damaging SNU423 Truncating Mutation TRIM66 chr11 8640926 8640926 A G g.8640926A>G ENST00000299550.6 c.3372+4T>C p.? splice_region_variant,intron_variant damaging SNU423 Truncating Mutation UGT2B10 chr4 69885694 69885694 T A g.69885694T>A NA NA NA NA benign SNU423 Truncating Mutation SH2B3 chr12 111885458 111885458 A G g.111885458A>G ENST00000341259.2 c.1237-2A>G p.H413_splice splice_acceptor_variant damaging SNU423 Truncating Mutation NEK9 chr14 75585642 75585643 - A g.75585642dup ENST00000238616.5 c.525-4dup p.? intron_variant damaging SNU423 Truncating Mutation DUOX2 chr15 45396334 45396334 C T g.45396334C>T ENST00000389039.6 c.2560+4G>A p.? splice_region_variant,intron_variant damaging SNU423 Truncating Mutation MEGF11 chr15 66223280 66223280 C T g.66223280C>T ENST00000360698.4 c.1289G>A p.Gly430Glu (Splice) missense_variant,splice_region_variant probably damaging SNU423 Truncating Mutation TPSAB1 chr16 1291699 1291699 T A g.1291699T>A ENST00000338844.3 c.498T>A p.Asp166Glu (Splice) missense_variant,splice_region_variant damaging SNU423 Truncating Mutation AXIN1 chr16 360044 360056 GGATCCTGTATGG - g.360044_360056del ENST00000262320.3 c.1033_1045del p.Pro345ValfsX65 frameshift_variant damaging SNU423 Truncating Mutation ABCC12 chr16 48172285 48172285 A C g.48172285A>C ENST00000311303.3 c.833T>G p.Met278Arg (Splice) missense_variant,splice_region_variant possibly damaging SNU423 Truncating Mutation PSME3 chr17 40991032 40991032 A T g.40991032A>T ENST00000590720.1 c.542+3A>T p.? splice_region_variant,intron_variant damaging SNU423 Truncating Mutation TRIM37 chr17 57093160 57093160 C G g.57093160C>G ENST00000262294.7 c.2387G>C p.Gly796Ala (Splice) missense_variant,splice_region_variant damaging SNU423 Truncating Mutation SLC16A11 chr17 6946059 6946059 C - g.6946059del ENST00000308009.1 c.442del p.Ala148ProfsX4 frameshift_variant damaging SNU423 Truncating Mutation TP53 chr17 7578556 7578556 T C g.7578556T>C ENST00000269305.4 c.376-2A>G p.Y126_splice splice_acceptor_variant damaging SNU423 Truncating Mutation CNDP2 chr18 72176071 72176071 C G g.72176071C>G ENST00000324262.4 c.368-4C>G p.? splice_region_variant,intron_variant damaging SNU423 Truncating Mutation KEAP1 chr19 10600043 10600043 G T g.10600043G>T ENST00000171111.5 c.1533C>A p.G511G (Splice) splice_region_variant,synonymous_variant damaging SNU423 Truncating Mutation FKBP8 chr19 18652596 18652597 - G g.18652596dup ENST00000222308.4 c.185dup p.Ala63GlyfsX5 frameshift_variant damaging SNU423 Truncating Mutation ZNF429 chr19 21720406 21720407 - T g.21720406_21720407insT ENST00000358491.4 c.1554dup p.Ile519TyrfsX10 frameshift_variant damaging SNU423 Truncating Mutation NR1H2 chr19 50882053 50882053 G T g.50882053G>T ENST00000253727.5 c.747G>T p.T249T (Splice) splice_region_variant,synonymous_variant damaging SNU423 Truncating Mutation METTL8 chr2 172187201 172187201 G T g.172187201G>T ENST00000375258.4 c.728C>A p.Ser243X stop_gained damaging SNU423 Truncating Mutation ZNF343 chr20 2465219 2465219 G A g.2465219G>A ENST00000278772.4 c.388C>T p.Gln130X stop_gained damaging SNU423 Truncating Mutation AURKA chr20 54956539 54956539 A - g.54956539del ENST00000312783.6 c.655del p.Tyr219IlefsX19 frameshift_variant damaging SNU423 Truncating Mutation KRTAP19-5 chr21 31874277 31874277 G C g.31874277G>C ENST00000334151.2 c.132C>G p.Tyr44XX stop_gained damaging SNU423 Truncating Mutation C3orf80 chr3 159944157 159944161 TCTTA - g.159944160_159944164del ENST00000326474.3 c.738_742del p.Ile247SerfsX36 frameshift_variant damaging SNU423 Truncating Mutation GRIA1 chr5 152873486 152873486 A T g.152873486A>T ENST00000285900.5 c.83-2A>T p.G28_splice splice_acceptor_variant damaging SNU423 Truncating Mutation HCN1 chr5 45396727 45396727 G - g.45396727del ENST00000303230.4 c.1097del p.Pro366GlnfsX12 frameshift_variant damaging SNU423 Truncating Mutation ARHGEF28 chr5 73161786 73161786 C T g.73161786C>T ENST00000287898.5 c.2104-4C>T p.? splice_region_variant,intron_variant damaging SNU423 Truncating Mutation ZNF277 chr7 111935924 111935924 G A g.111935924G>A ENST00000361822.3 c.294G>A p.R98R (Splice) splice_region_variant,synonymous_variant damaging SNU423 Truncating Mutation AC009403.2 chr7 155436213 155436216 TTGA - g.155436216_155436219del ENST00000401694.1 c.47_50del p.IK16fs frameshift_variant damaging SNU423 Truncating Mutation SSPO chr7 149479269 149479269 G C g.149479269G>C NM_198455.2 c.1785-1G>C p.D595_splice splice_acceptor_variant damaging SNU423 Truncating Mutation ARMCX4 chrX 100745409 100745409 T - g.100745409delT ENST00000423738.3 c.1833del p.His613IlefsX332 frameshift_variant damaging SNU449 Truncating Mutation CRNN chr1 152384568 152384568 G A g.152384568G>A ENST00000271835.3 c.138+4C>T p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation SCCPDH chr1 246890190 246890190 T G g.246890190T>G ENST00000366510.3 c.191-4T>G p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation ARID1A chr1 27107136 27107137 - A g.27107136dup ENST00000324856.7 c.6747dup p.Glu2250ArgfsX28 frameshift_variant damaging SNU449 Truncating Mutation TNNI3K chr1 74902213 74902213 T C g.74902213T>C ENST00000326637.3 c.1878+3T>C p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation USP6NL chr10 11523861 11523861 T - g.11523861del ENST00000609104.1 c.986del p.Lys329ArgfsX10 frameshift_variant damaging SNU449 Truncating Mutation CREM chr10 35467813 35467813 A G g.35467813A>G ENST00000348787.2 c.121-4A>G p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation SRPR chr11 126137136 126137136 C A g.126137136C>A ENST00000332118.6 c.460G>T p.Glu154X stop_gained damaging SNU449 Truncating Mutation OR6Q1 chr11 57799343 57799343 C T g.57799343C>T ENST00000302622.3 c.919C>T p.Arg307X stop_gained damaging SNU449 Truncating Mutation KLRK1 chr12 10532067 10532067 C - g.10532067del ENST00000240618.6 c.256del p.Glu86LysfsX6 frameshift_variant damaging SNU449 Truncating Mutation CNTN1 chr12 41323660 41323660 C T g.41323660C>T ENST00000347616.1 c.559C>T p.Arg187X stop_gained damaging SNU449 Truncating Mutation NALCN chr13 102030940 102030940 C T g.102030940C>T ENST00000251127.6 c.356G>A p.Trp119X stop_gained damaging SNU449 Truncating Mutation SKA3 chr13 21732060 21732060 C G g.21732060C>G ENST00000314759.5 c.1119+1G>C p.Q373_splice splice_donor_variant damaging SNU449 Truncating Mutation HSPH1 chr13 31736120 31736120 G A g.31736120G>A ENST00000445273.2 c.112C>T p.R38W (Splice) missense_variant,splice_region_variant damaging SNU449 Truncating Mutation EPB41L3 chr18 5395107 5395107 G A g.5395107G>A ENST00000341928.2 c.3112C>T p.Arg1038X stop_gained damaging SNU449 Truncating Mutation MEGF8 chr19 42839184 42839184 C T g.42839184C>T ENST00000251268.6 c.559-3C>T p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation ZNF175 chr19 52084691 52084692 - G g.52084691dup ENST00000262259.2 c.120dup p.Trp41ValfsX21 frameshift_variant damaging SNU449 Truncating Mutation MBD3L1 chr19 8953677 8953678 - T g.8953678dup ENST00000305625.2 c.324dup p.Leu109SerfsX43 frameshift_variant damaging SNU449 Truncating Mutation OSGEPL1 chr2 190620189 190620190 - T g.190620189dup ENST00000264151.5 c.319dup p.Ser107LysfsX2 frameshift_variant damaging SNU449 Truncating Mutation PNKD chr2 219209529 219209529 A G g.219209529A>G ENST00000273077.4 c.985-2A>G p.C329_splice splice_acceptor_variant damaging SNU449 Truncating Mutation STRN chr2 37129842 37129842 G A g.37129842G>A ENST00000263918.4 c.544C>T p.Arg182X stop_gained damaging SNU449 Truncating Mutation CD93 chr20 23065162 23065162 A - g.23065162del ENST00000246006.4 c.1668del p.Gly557AlafsX31 frameshift_variant damaging SNU449 Truncating Mutation ZSWIM1 chr20 44511649 44511650 GA - g.44511654_44511655del ENST00000372520.1 c.423_424del p.Arg141SerfsX24 frameshift_variant damaging SNU449 Truncating Mutation KRTAP13-1 chr21 31768531 31768531 C - g.31768533del ENST00000355459.2 c.129del p.Ser44AlafsX57 frameshift_variant damaging SNU449 Truncating Mutation UMODL1 chr21 43543115 43543116 - CCAT g.43543115_43543116insCCAT ENST00000408910.2 c.3002_3003insCCAT p.Ile1002HisfsX86 frameshift_variant damaging SNU449 Truncating Mutation PHLDB2 chr3 111603521 111603566 AAGCATGCCTTCAAGCCCAAAGCAAGCCAGGAAAATGAGCATTCAG - g.111603521_111603566del ENST00000393925.3 c.597_642del p.Ser200ThrfsX9 frameshift_variant damaging SNU449 Truncating Mutation TAMM41 chr3 11850987 11850987 G A g.11850987G>A ENST00000273037.5 c.874+4C>T p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation TM4SF4 chr3 149192842 149192842 A C g.149192842A>C ENST00000305354.4 c.174+4A>C p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation GNL3 chr3 52727649 52727649 C T g.52727649C>T ENST00000418458.1 c.1326C>T p.A442A (Splice) splice_region_variant,synonymous_variant damaging SNU449 Truncating Mutation DOK7 chr4 3487263 3487263 C T g.3487263C>T ENST00000507039.1 c.522-3C>T p.? splice_region_variant,intron_variant damaging SNU449 Truncating Mutation C4orf36 chr4 87812614 87812615 - A g.87812614dup ENST00000295898.3 c.60dup p.Asn21X frameshift_variant damaging SNU449 Truncating Mutation HMMR chr5 162917426 162917427 - A g.162917434dup ENST00000393915.4 c.2001dup p.Gln668ThrfsX3 frameshift_variant damaging SNU449 Truncating Mutation DBN1 chr5 176894481 176894481 C G g.176894481C>G ENST00000309007.5 c.477+1G>C p.V159_splice splice_donor_variant damaging SNU449 Truncating Mutation HMGCS1 chr5 43299067 43299067 T C g.43299067T>C ENST00000325110.6 c.1A>G p.Met1? start_lost possibly damaging SNU449 Truncating Mutation CDC20B chr5 54429252 54429252 G A g.54429252G>A ENST00000296733.1 c.685C>T p.Arg229X stop_gained damaging SNU449 Truncating Mutation CFTR chr7 117254768 117254768 G T g.117254768G>T ENST00000003084.6 c.3468+1G>T p.L1156_splice splice_donor_variant damaging SNU449 Truncating Mutation COL1A2 chr7 94043054 94043054 A G g.94043054A>G ENST00000297268.6 c.1610A>G p.Gln537Arg (Splice) missense_variant,splice_region_variant damaging SNU449 Truncating Mutation EPPK1 chr8 144940775 144940776 - ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC g.144940775_144940776insACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC ENST00000525985.1 c.6646_6647insGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT p.Val2216GlyfsX231 frameshift_variant damaging SNU449 Truncating Mutation SORBS3 chr8 22421882 22421882 G T g.22421882G>T ENST00000240123.7 c.762G>T p.Arg254Ser (Splice) missense_variant,splice_region_variant damaging SNU449 Truncating Mutation PTPN3 chr9 112199162 112199162 C G g.112199162C>G ENST00000374541.2 c.675+1G>C p.R225_splice splice_donor_variant damaging SNU449 Truncating Mutation MAMDC4 chr9 139748357 139748357 C T g.139748357C>T ENST00000317446.2 c.583C>T p.Arg195X stop_gained,splice_region_variant damaging SNU449 Truncating Mutation SPINK4 chr9 33240270 33240270 G C g.33240270G>C ENST00000379721.3 c.61+3G>C p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation DENND2C chr1 115165724 115165724 A G g.115165724A>G ENST00000393274.1 c.944-4T>C p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation RPRD2 chr1 150413414 150413415 - T g.150413414dup ENST00000369067.3 c.351dup p.Lys118X frameshift_variant damaging SNU475 Truncating Mutation CHIT1 chr1 203186975 203186976 - AGACCATGGCC g.203186975_203186976insAGACCATGGCC ENST00000367229.1 c.1047_1048insGGCCATGGTCT p.Lys350GlyfsX17 frameshift_variant damaging SNU475 Truncating Mutation STK40 chr1 36809835 36809836 AT - g.36809835_36809836del ENST00000359297.2 c.769_770del p.Met257ValfsX38 frameshift_variant damaging SNU475 Truncating Mutation NOC2L chr1 883614 883614 T C g.883614T>C ENST00000327044.6 c.1558-2A>G p.D520_splice splice_acceptor_variant damaging SNU475 Truncating Mutation TMEM126A chr11 85365183 85365183 C T g.85365183C>T ENST00000304511.2 c.163C>T p.Arg55X stop_gained damaging SNU475 Truncating Mutation ZCCHC8 chr12 122973929 122973929 T G g.122973929T>G ENST00000336229.4 c.501+4A>C p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation PMEL chr12 56349886 56349886 C T g.56349886C>T ENST00000539511.1 c.1213+1G>A p.Q491_splice splice_donor_variant damaging SNU475 Truncating Mutation VWF chr12 6204626 6204626 C G g.6204626C>G ENST00000261405.5 c.657G>C p.Lys219Asn (Splice) missense_variant,splice_region_variant possibly damaging SNU475 Truncating Mutation CPB2 chr13 46632417 46632417 T - g.46632417del ENST00000181383.4 c.896del p.Asn299IlefsX18 frameshift_variant damaging SNU475 Truncating Mutation LRCH1 chr13 47315828 47315828 C T g.47315828C>T ENST00000389798.3 c.2032C>T p.Arg678X stop_gained damaging SNU475 Truncating Mutation TRIM13 chr13 50586850 50586853 AATC - g.50586852_50586855del ENST00000298772.5 c.785_788del p.Ile262LysfsX2 frameshift_variant damaging SNU475 Truncating Mutation PLA2G4E chr15 42298189 42298189 T C g.42298189T>C ENST00000399518.3 c.524A>G p.Q146R (Splice) missense_variant,splice_region_variant damaging SNU475 Truncating Mutation SMAD6 chr15 67004028 67004029 - T g.67004028dup ENST00000288840.5 c.840dup p.Arg281SerfsX22 frameshift_variant damaging SNU475 Truncating Mutation MAN2A2 chr15 91461617 91461617 A T g.91461617A>T ENST00000360468.3 c.3188A>T p.Glu1063Val (Splice) missense_variant,splice_region_variant damaging SNU475 Truncating Mutation EFCAB5 chr17 28400662 28400662 G A g.28400662G>A ENST00000536908.2 c.2529-4G>A p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation DBF4B chr17 42828566 42828566 G A g.42828566G>A ENST00000315005.3 c.1793G>A p.Trp598X stop_gained damaging SNU475 Truncating Mutation RPTOR chr17 78704390 78704391 - T g.78704390dup ENST00000306801.3 c.538dup p.Tyr180LeufsX2 frameshift_variant damaging SNU475 Truncating Mutation SLC25A35 chr17 8192962 8192962 C T g.8192962C>T ENST00000380067.2 c.861-1G>A p.S287_splice splice_acceptor_variant damaging SNU475 Truncating Mutation DHRS7C chr17 9676195 9676195 G A g.9676195G>A ENST00000571134.1 c.616C>T p.Arg206X stop_gained damaging SNU475 Truncating Mutation KEAP1 chr19 10610421 10610421 T A g.10610421T>A ENST00000171111.5 c.289A>T p.Lys97X stop_gained damaging SNU475 Truncating Mutation IZUMO4 chr19 2097928 2097928 G A g.2097928G>A ENST00000395301.3 c.371G>A p.Ser124Asn (Splice) missense_variant,splice_region_variant probably damaging SNU475 Truncating Mutation NPHS1 chr19 36330394 36330394 C T g.36330394C>T ENST00000353632.6 c.2927+4G>A p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation SIGLEC12 chr19 52003553 52003553 C T g.52003553C>T ENST00000291707.3 c.429G>A p.A143A (Splice) splice_region_variant,synonymous_variant damaging SNU475 Truncating Mutation TTYH1 chr19 54947351 54947351 G A g.54947351G>A ENST00000376531.3 c.1349G>A p.Arg450His (Splice) missense_variant,splice_region_variant damaging SNU475 Truncating Mutation ACOXL chr2 111875203 111875203 T A g.111875203T>A ENST00000439055.1 c.1553T>A p.Leu518X stop_gained damaging SNU475 Truncating Mutation MGAT5 chr2 135027955 135027955 A G g.135027955A>G ENST00000281923.2 c.242-2A>G p.D81_splice splice_acceptor_variant damaging SNU475 Truncating Mutation NBAS chr2 15506762 15506762 G - g.15506762del ENST00000281513.5 c.3759del p.Thr1254HisfsX16 frameshift_variant damaging SNU475 Truncating Mutation PROM2 chr2 95944833 95944833 G - g.95944834del ENST00000317620.9 c.1216del p.Glu406ArgfsX124 frameshift_variant damaging SNU475 Truncating Mutation SEL1L2 chr20 13866050 13866050 C A g.13866050C>A ENST00000284951.5 c.901-1G>T p.V301_splice splice_acceptor_variant damaging SNU475 Truncating Mutation PRDM15 chr21 43256218 43256218 C T g.43256218C>T ENST00000398548.1 c.1389+4G>A p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation UMODL1 chr21 43543115 43543116 - CCAT g.43543115_43543116insCCAT ENST00000408910.2 c.3002_3003insCCAT p.Ile1002HisfsX86 frameshift_variant damaging SNU475 Truncating Mutation SEZ6L chr22 26761533 26761533 G T g.26761533G>T ENST00000248933.6 c.2794+1G>T p.V932_splice splice_donor_variant damaging SNU475 Truncating Mutation TST chr22 37414664 37414665 - T g.37414664dup ENST00000249042.3 c.110dup p.Tyr37X stop_gained,frameshift_variant damaging SNU475 Truncating Mutation LRRIQ4 chr3 169540328 169540329 - A g.169540328dup ENST00000340806.6 c.619dup p.Ile207AsnfsX15 frameshift_variant damaging SNU475 Truncating Mutation IP6K2 chr3 48726968 48726968 C T g.48726968C>T ENST00000328631.5 c.780+3G>A p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation MITF chr3 70014343 70014343 A - g.70014346del ENST00000314557.6 c.1189del p.Thr397GlnfsX8 frameshift_variant damaging SNU475 Truncating Mutation PKD1L2 chr16 81190505 81190505 C T g.81190505C>T ENST00000525539.1 c.4084G>A p.Val1362Met missense_variant benign SNU475 Truncating Mutation SEC24D chr4 119666218 119666218 A - g.119666218del ENST00000280551.6 c.1708-3del p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation RASSF6 chr4 74453572 74453573 - T g.74453572dup ENST00000342081.3 c.463dup p.Arg155LysfsX22 frameshift_variant damaging SNU475 Truncating Mutation MYO10 chr5 16701521 16701521 C A g.16701521C>A ENST00000513610.1 c.2983G>T p.Glu995X stop_gained damaging SNU475 Truncating Mutation KIF6 chr6 39398825 39398825 T C g.39398825T>C ENST00000287152.7 c.1754+4A>G p.? splice_region_variant,intron_variant damaging SNU475 Truncating Mutation DMTF1 chr7 86817616 86817616 T G g.86817616T>G ENST00000331242.7 c.1410T>G p.V470V (Splice) splice_region_variant,synonymous_variant damaging SNU475 Truncating Mutation MTUS1 chr8 17570762 17570762 C A g.17570762C>A ENST00000544260.1 c.20-1G>T p.G862_splice splice_acceptor_variant damaging SNU475 Truncating Mutation BRWD3 chrX 79960349 79960349 T A g.79960349T>A ENST00000373275.4 c.2553-4A>T p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation FLG chr1 152285605 152285605 G C g.152285605G>C ENST00000368799.1 c.1757C>G p.Ser586X stop_gained damaging Huh7 Truncating Mutation OR10X1 chr1 158549543 158549543 A T g.158549543A>T ENST00000368150.1 c.147T>A p.Cys49X stop_gained damaging Huh7 Truncating Mutation IGSF21 chr1 18703885 18703885 A G g.18703885A>G ENST00000251296.1 c.1295-2A>G p.E432_splice splice_acceptor_variant damaging Huh7 Truncating Mutation PLA2G2A chr1 20305016 20305016 G A g.20305016G>A ENST00000375111.3 c.42C>T p.G14G (Splice) splice_region_variant,synonymous_variant damaging Huh7 Truncating Mutation CR1L chr1 207850914 207850914 G C g.207850914G>C ENST00000508064.2 c.277+1G>C p.R93_splice splice_donor_variant damaging Huh7 Truncating Mutation KIF17 chr1 21030967 21030967 G A g.21030967G>A ENST00000247986.2 c.1096C>T p.Gln366X stop_gained damaging Huh7 Truncating Mutation USH2A chr1 216011445 216011445 C T g.216011445C>T ENST00000307340.3 c.9259G>A p.Val3087Ile (Splice) missense_variant,splice_region_variant possibly damaging Huh7 Truncating Mutation TCEB3 chr1 24082792 24082793 CT - g.24082794_24082795del ENST00000418390.2 c.2081_2082del p.Ser694CysfsX7 frameshift_variant damaging Huh7 Truncating Mutation SZT2 chr1 43909026 43909027 - G g.43909027dup ENST00000562955.1 c.8333dup p.Glu2779ArgfsX38 frameshift_variant damaging Huh7 Truncating Mutation CDC123 chr10 12272995 12272995 G C g.12272995G>C ENST00000281141.4 c.489G>C p.Glu163Asp (Splice) missense_variant,splice_region_variant probably damaging Huh7 Truncating Mutation TACC2 chr10 123842452 123842452 C - g.123842455del ENST00000334433.3 c.440del p.Pro147GlnfsX63 frameshift_variant damaging Huh7 Truncating Mutation TTC40 chr10 134740156 134740157 - A g.134740156dup ENST00000368582.2 c.981dup p.Ile328TyrfsX2 frameshift_variant damaging Huh7 Truncating Mutation C10orf67 chr10 23609681 23609681 C A g.23609681C>A ENST00000323327.4 c.538G>T p.Gly180X stop_gained damaging Huh7 Truncating Mutation C10orf128 chr10 50364308 50364308 C T g.50364308C>T NM_001288742.1 c.263-4G>A p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation USP28 chr11 113704162 113704162 G A g.113704162G>A ENST00000003302.4 c.739C>T p.Arg247X stop_gained damaging Huh7 Truncating Mutation SLC37A2 chr11 124947122 124947122 C A g.124947122C>A ENST00000298280.5 c.142-4C>A p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation TCTN2 chr12 124175080 124175080 G A g.124175080G>A ENST00000303372.5 c.892G>A p.Val298Met (Splice) missense_variant,splice_region_variant damaging Huh7 Truncating Mutation KMT2D chr12 49435772 49435772 G C g.49435772G>C ENST00000301067.7 c.6111C>G p.Asp2037Glu (Splice) missense_variant,splice_region_variant probably damaging Huh7 Truncating Mutation METTL7A chr12 51318824 51318824 G A g.51318824G>A ENST00000332160.4 c.3G>A p.Met1? start_lost possibly damaging Huh7 Truncating Mutation KRT74 chr12 52967214 52967217 AGTG - g.52967214_52967217del ENST00000305620.2 c.345_348del p.Thr116SerfsX31 frameshift_variant damaging Huh7 Truncating Mutation DIAPH3 chr13 60566717 60566717 C A g.60566717C>A ENST00000267215.4 c.1015G>T p.Val339Leu (Splice) missense_variant,splice_region_variant possibly damaging Huh7 Truncating Mutation SLC9A5 chr16 67293477 67293477 G A g.67293477G>A ENST00000299798.11 c.1628G>A p.Gly543Glu (Splice) missense_variant,splice_region_variant possibly damaging Huh7 Truncating Mutation ALDH3A2 chr17 19568258 19568258 C T g.19568258C>T ENST00000176643.6 c.1108-3C>T p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation SHPK chr17 3527386 3527386 G - g.3527386del ENST00000225519.3 c.450del p.Thr151ArgfsX12 frameshift_variant damaging Huh7 Truncating Mutation NARF chr17 80441059 80441059 G A g.80441059G>A ENST00000374611.5 c.786G>A p.Trp262X stop_gained,NMD_transcript_variant damaging Huh7 Truncating Mutation ABCA7 chr19 1054217 1054217 G - g.1054219del ENST00000263094.6 c.3605del p.Gly1202AlafsX15 frameshift_variant damaging Huh7 Truncating Mutation KMT2B chr19 36223113 36223113 C A g.36223113C>A ENST00000222270.7 c.5666-3C>A p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation ADCK4 chr19 41220286 41220286 G - g.41220286del ENST00000243583.6 c.119del p.Ser40PhefsX36 frameshift_variant damaging Huh7 Truncating Mutation ZNF226 chr19 44681726 44681727 - A g.44681726dup ENST00000337433.5 c.2311dup p.Thr771AsnfsX10 frameshift_variant damaging Huh7 Truncating Mutation ZNF544 chr19 58774041 58774042 - GTAG g.58774041_58774042insGTAG ENST00000269829.4 c.2069_2070insGTAG p.Cys690TrpfsX2 stop_gained,frameshift_variant damaging Huh7 Truncating Mutation CAMSAP3 chr19 7680182 7680189 GGAACAGC - g.7680185_7680192del ENST00000160298.4 c.2787_2794del p.Gln930GlyfsX64 frameshift_variant damaging Huh7 Truncating Mutation SLC9A4 chr2 103130703 103130703 C - g.103130706del ENST00000295269.4 c.1717del p.His573IlefsX20 frameshift_variant damaging Huh7 Truncating Mutation TTC27 chr2 32961757 32961757 C T g.32961757C>T NM_001193509.1 c.1180-4C>T p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation CLHC1 chr2 55433514 55433515 - T g.55433514dup ENST00000406076.1 c.534-2dup p.R300_splice splice_region_variant,intron_variant damaging Huh7 Truncating Mutation SEC62 chr3 169693392 169693392 G A g.169693392G>A ENST00000337002.4 c.37-4G>A p.? splice_region_variant,intron_variant damaging Huh7 Truncating Mutation TRAM1L1 chr4 118006512 118006537 ACGGGGGGGTTCTTGGTGCTCTTCTT - g.118006512_118006537del ENST00000310754.4 c.13_38del p.Lys5SerfsX91 frameshift_variant damaging Huh7 Truncating Mutation PACRGL chr4 20709441 20709441 C T g.20709441C>T ENST00000295290.8 c.223C>T p.Arg75X stop_gained damaging Huh7 Truncating Mutation STAP1 chr4 68441103 68441103 T C g.68441103T>C ENST00000265404.2 c.193T>C p.Tyr65His (Splice) missense_variant,splice_region_variant probably damaging Huh7 Truncating Mutation CCSER1 chr4 91321279 91321279 T C g.91321279T>C ENST00000333691.8 c.1602T>C p.S534S (Splice) splice_region_variant,synonymous_variant damaging Huh7 Truncating Mutation XRCC4 chr5 82554486 82554486 G T g.82554486G>T ENST00000282268.3 c.883G>T p.Glu295X stop_gained damaging Huh7 Truncating Mutation FABP7 chr6 123102237 123102237 G T g.123102237G>T ENST00000356535.4 c.247-1G>T p.S83_splice splice_acceptor_variant damaging Huh7 Truncating Mutation TRDN chr6 123892215 123892215 C A g.123892215C>A ENST00000334268.4 c.85G>T p.Gly29X stop_gained damaging Huh7 Truncating Mutation HIST1H2BO chr6 27861241 27861241 A T g.27861241A>T ENST00000303806.4 c.1A>T p.Met1? start_lost benign Huh7 Truncating Mutation HLA-A chr6 29911219 29911220 - CGGCCCATGCGGCGGAGCAGCAGAGAGCCTACCTGGAGGGCCGGTGCGTGGAGTGGCTCCGC g.29911219_29911220ins62 ENST00000376802.2 c.518_519insCGGCCCATGCGGCGGAGCAGCAGAGAGCCTACCTGGAGGGCCGGTGCGTGGAGTGGCTCCGC p.Ala174GlyfsX28 frameshift_variant damaging Huh7 Truncating Mutation LHFPL5 chr6 35787214 35787214 A G g.35787214A>G ENST00000360215.1 c.650A>G p.Glu217Gly (Splice) missense_variant,splice_region_variant damaging Huh7 Truncating Mutation DNAH8 chr6 38885815 38885815 G - g.38885815delG ENST00000359357.3 c.9772del p.Glu3258LysfsX33 frameshift_variant damaging Huh7 Truncating Mutation CUL7 chr6 43017879 43017879 C T g.43017879C>T ENST00000265348.3 c.1391G>A p.Trp464X stop_gained damaging Huh7 Truncating Mutation RINT1 chr7 105207566 105207566 T C g.105207566T>C ENST00000257700.2 c.2187T>C p.H729H (Splice) splice_region_variant,synonymous_variant damaging Huh7 Truncating Mutation GABRR3 chr3 97726736 97726736 T - g.97726736del ENST00000472788.1 c.626del p.Glu209GlyfsX4 frameshift_variant damaging Huh7 Truncating Mutation GIMAP5 chr7 150439929 150439929 A - g.150439929del ENST00000358647.3 c.702del p.Ala235LeufsX26 frameshift_variant damaging Huh7 Truncating Mutation HEATR2 chr7 796554 796554 C T g.796554C>T ENST00000297440.6 c.1393C>T p.Arg465X stop_gained damaging Huh7 Truncating Mutation ADRB3 chr8 37821756 37821756 C G g.37821756C>G ENST00000345060.3 c.1207G>C p.Ala403Pro (Splice) missense_variant,splice_region_variant damaging Huh7 Truncating Mutation KLHL9 chr9 21334558 21334568 CCTTGTTCACC - g.21334558_21334568del ENST00000359039.4 c.291_301del p.Val98TrpfsX7 frameshift_variant damaging Huh7 Truncating Mutation FANCC chr9 97912338 97912338 G A g.97912338G>A ENST00000289081.3 c.553C>T p.Arg185X stop_gained damaging Huh7 Truncating Mutation AMER1 chrX 63412116 63412117 CT - g.63412116_63412117del ENST00000330258.3 c.1050_1051del p.Arg350SerfsX27 frameshift_variant damaging Mahlavu Truncating Mutation TRIM45 chr1 117663633 117663634 - T g.117663634dup ENST00000256649.4 c.190dup p.Ile64AsnfsX7 frameshift_variant damaging Mahlavu Truncating Mutation FLG chr1 152285177 152285177 G A g.152285177G>A ENST00000368799.1 c.2185C>T p.Gln729X stop_gained damaging Mahlavu Truncating Mutation EPHA2 chr1 16464503 16464503 G T g.16464503G>T ENST00000358432.5 c.1157C>A p.Ser386X stop_gained damaging Mahlavu Truncating Mutation ECE1 chr1 21562343 21562343 G A g.21562343G>A ENST00000374893.6 c.1566C>T p.D522D (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation BAI2 chr1 32203929 32203929 T G g.32203929T>G ENST00000257070.4 c.2646-2A>C p.A882_splice splice_acceptor_variant damaging Mahlavu Truncating Mutation OSCP1 chr1 36893922 36893922 T G g.36893922T>G ENST00000354267.3 c.671A>C p.X224SerextX26 stop_lost NA Mahlavu Truncating Mutation MACF1 chr1 39749857 39749857 G A g.39749857G>A ENST00000317713.7 c.1050G>A p.K350K (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation KCNQ4 chr1 41285936 41285936 C T g.41285936C>T ENST00000347132.5 c.1041+4C>T p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation CHD5 chr1 6203912 6203912 C A g.6203912C>A ENST00000262450.3 c.2014G>T p.Glu672X stop_gained damaging Mahlavu Truncating Mutation PPRC1 chr10 103906500 103906500 G - g.103906500del ENST00000278070.2 c.3751del p.Ala1251ProfsX13 frameshift_variant damaging Mahlavu Truncating Mutation DCLRE1A chr10 115602245 115602246 - T g.115602245dup ENST00000361384.2 c.2522dup p.Tyr841X stop_gained,frameshift_variant,splice_region_variant damaging Mahlavu Truncating Mutation PCBD1 chr10 72643709 72643709 A G g.72643709A>G ENST00000299299.3 c.313T>C p.X105GlnextX15 stop_lost damaging Mahlavu Truncating Mutation HTR3B chr11 113813700 113813700 C T g.113813700C>T ENST00000260191.2 c.697-4C>T p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation OR51G1 chr11 4944768 4944768 C A g.4944768C>A ENST00000321961.2 c.802G>T p.Glu268X stop_gained damaging Mahlavu Truncating Mutation SNX32 chr11 65620805 65620806 - A g.65620805dup ENST00000308342.6 c.1211dup p.X404fs frameshift_variant,stop_retained_variant damaging Mahlavu Truncating Mutation DCHS1 chr11 6648492 6648492 G - g.6648492del ENST00000299441.3 c.5778del p.Ser1928LeufsX2 frameshift_variant damaging Mahlavu Truncating Mutation RASSF8 chr12 26220613 26220613 G - g.26220613del ENST00000282884.9 c.1105del p.Glu369LysfsX2 frameshift_variant damaging Mahlavu Truncating Mutation MUC19 chr12 40917228 40917228 C T g.40917228C>T XM_003846356.2 c.20656C>T p.Pro6886Ser missense_variant NA Mahlavu Truncating Mutation PPHLN1 chr12 42787447 42787447 G T g.42787447G>T ENST00000358314.7 c.724G>T p.Glu242X stop_gained damaging Mahlavu Truncating Mutation KRT81 chr12 52680045 52680045 T - g.52680045del ENST00000327741.5 c.1512del p.Lys504AsnfsX69 frameshift_variant damaging Mahlavu Truncating Mutation TMEM5 chr12 64195867 64195868 - ATCCCAGCGATGTGACTGCTCAATGGAGAGAAGGAAAGTCAATCGTAGGAAGAACACAGT g.64195867_64195868ins60 ENST00000261234.6 c.429-4_429-3insATCCCAGCGATGTGACTGCTCAATGGAGAGAAGGAAAGTCAATCGTAGGAAGAACACAGT p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation VWA8 chr13 42361678 42361678 A C g.42361678A>C ENST00000281496.6 c.2065T>G p.Phe689Val (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Truncating Mutation HERC1 chr15 64048811 64048812 - AAAGGAAATTGAGGACCAAAAAGGAAGTAGCTTTCCTGGTAGGGCACAGTGTGGCCCAT g.64048811_64048812ins59 ENST00000443617.2 c.1357_1358insATGGGCCACACTGTGCCCTACCAGGAAAGCTACTTCCTTTTTGGTCCTCAATTTCCTTT p.Pro453HisfsX39 frameshift_variant damaging Mahlavu Truncating Mutation RASGRF1 chr15 79350826 79350826 G A g.79350826G>A ENST00000419573.3 c.384-3C>T p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation XYLT1 chr16 17202767 17202767 C A g.17202767C>A ENST00000261381.6 c.2665G>T p.Glu889X stop_gained damaging Mahlavu Truncating Mutation COG8 chr16 69373081 69373081 G T g.69373081G>T ENST00000306875.4 c.375C>A p.Cys125X stop_gained,splice_region_variant damaging Mahlavu Truncating Mutation HYDIN chr16 70926284 70926284 G A g.70926284G>A ENST00000393567.2 c.9397C>T p.Gln3133X stop_gained damaging Mahlavu Truncating Mutation YWHAE chr17 1265305 1265306 - A g.1265305dup ENST00000264335.8 c.265-3dup p.? intron_variant damaging Mahlavu Truncating Mutation MYO1C chr17 1380893 1380894 - G g.1380893dup ENST00000359786.5 c.1483-3dup p.? intron_variant damaging Mahlavu Truncating Mutation FLCN chr17 17117130 17117130 G A g.17117130G>A ENST00000285071.4 c.1579C>T p.Arg527X stop_gained damaging Mahlavu Truncating Mutation NOS2 chr17 26114784 26114784 G - g.26114784del ENST00000313735.6 c.387del p.Arg130GlyfsX30 frameshift_variant damaging Mahlavu Truncating Mutation DNAH17 chr17 76554338 76554341 TAAA - g.76554338_76554341del ENST00000389840.5 c.2032-5_2032-2del p.L380_splice splice_acceptor_variant,intron_variant damaging Mahlavu Truncating Mutation SYT4 chr18 40857212 40857212 C G g.40857212C>G ENST00000255224.3 c.34+1G>C p.? splice_donor_variant damaging Mahlavu Truncating Mutation C18orf63 chr18 72021015 72021015 C T g.72021015C>T ENST00000579455.1 c.1513C>T p.Gln505X stop_gained damaging Mahlavu Truncating Mutation AP1M2 chr19 10685172 10685172 G C g.10685172G>C ENST00000250244.6 c.1174-4C>G p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation ZNF491 chr19 11916830 11916830 T - g.11916831del ENST00000323169.5 c.63del p.Pro22ArgfsX5 frameshift_variant damaging Mahlavu Truncating Mutation STX10 chr19 13255360 13255360 C T g.13255360C>T ENST00000589083.1 c.704G>A p.Trp235X stop_gained damaging Mahlavu Truncating Mutation PLK5 chr19 1529434 1529434 C A g.1529434C>A ENST00000334770.4 c.435C>A p.Cys145X stop_gained damaging Mahlavu Truncating Mutation ANKLE1 chr19 17394323 17394323 A - g.17394323del ENST00000394458.3 c.750del p.Leu251PhefsX21 frameshift_variant damaging Mahlavu Truncating Mutation THEG chr19 373939 373939 C - g.373939del ENST00000342640.4 c.503+1del p.W168_splice splice_donor_variant damaging Mahlavu Truncating Mutation VRK3 chr19 50511086 50511086 G A g.50511086G>A ENST00000377011.2 c.140-3C>T p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation SBK3 chr19 56056318 56056318 A T g.56056318A>T ENST00000420723.3 c.46-3T>A p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation GCC2 chr2 109066086 109066086 C T g.109066086C>T ENST00000309863.6 c.7-3C>T p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation GEN1 chr2 17962168 17962175 AATTTCAG - g.17962171_17962178del ENST00000317402.7 c.1692_1699del p.Ser565X frameshift_variant damaging Mahlavu Truncating Mutation ABCA12 chr2 215862452 215862452 C - g.215862452del ENST00000272895.7 c.3261del p.Lys1087AsnfsX14 frameshift_variant damaging Mahlavu Truncating Mutation SP110 chr2 231042975 231042975 A G g.231042975A>G ENST00000540870.1 c.1367-4T>C p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation SAG chr2 234227440 234227440 A G g.234227440A>G ENST00000409110.1 c.180A>G p.K60K (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation NAT8 chr2 73868197 73868198 - GG g.73868198_73868199dup ENST00000272425.3 c.558_559dup p.Leu187ProfsX22 frameshift_variant damaging Mahlavu Truncating Mutation SNRNP200 chr2 96964709 96964709 T C g.96964709T>C ENST00000323853.5 c.730-4A>G p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation MX1 chr21 42830678 42830679 - CCGGTTAA g.42830678_42830679insCCGGTTAA ENST00000398600.2 c.1983_1984insCGGTTAAC p.Gly662ArgfsX35 frameshift_variant damaging Mahlavu Truncating Mutation NF2 chr22 29999992 30000001 CCGGGGCCAT - g.29999993_30000002del ENST00000334961.7 c.6_15del p.Gly3LeufsX4 frameshift_variant damaging Mahlavu Truncating Mutation SFI1 chr22 32010772 32010772 C T g.32010772C>T ENST00000400288.2 c.2997-3C>T p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation DLEC1 chr3 38159102 38159102 G A g.38159102G>A ENST00000308059.6 c.4485G>A p.G1495G (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation ZNF197 chr3 44685397 44685398 TG - g.44685397_44685398del ENST00000344387.4 c.2775_2776del p.Glu927LysfsX4 frameshift_variant damaging Mahlavu Truncating Mutation CPNE9 chr3 9759714 9759714 G C g.9759714G>C ENST00000383831.3 c.933G>C p.G311G (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation TTLL3 chr3 9876958 9876958 C - g.9876961del ENST00000426895.4 c.2536del p.Leu846CysfsX16 frameshift_variant damaging Mahlavu Truncating Mutation CD38 chr4 15780135 15780135 T - g.15780135del ENST00000226279.3 c.98del p.Leu33ArgfsX45 frameshift_variant damaging Mahlavu Truncating Mutation FIP1L1 chr4 54306776 54306776 G C g.54306776G>C ENST00000358575.5 c.1156+1G>C p.? splice_donor_variant damaging Mahlavu Truncating Mutation CEP120 chr5 122728990 122728990 T C g.122728990T>C ENST00000306467.5 c.810+4A>G p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation GEMIN5 chr5 154287152 154287152 C T g.154287152C>T ENST00000285873.7 c.2394G>A p.A798A (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation STK10 chr5 171481638 171481638 C A g.171481638C>A ENST00000176763.5 c.2587G>T p.Glu863X stop_gained damaging Mahlavu Truncating Mutation FAM153B chr5 175528588 175528588 C T g.175528588C>T ENST00000508296.1 c.433+4C>T p.? splice_region_variant,intron_variant,NMD_transcript_variant damaging Mahlavu Truncating Mutation PDLIM7 chr5 176919406 176919406 C A g.176919406C>A ENST00000355572.2 c.279G>T p.Lys93Asn (Splice) missense_variant,splice_region_variant damaging Mahlavu Truncating Mutation GPR150 chr5 94957092 94957093 CT - g.94957096_94957097del ENST00000380007.2 c.1117_1118del p.Leu373ValfsX141 frameshift_variant damaging Mahlavu Truncating Mutation SLC18B1 chr6 133105073 133105073 G A g.133105073G>A ENST00000275227.4 c.657C>T p.Y219Y (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation KIF13A chr6 17772136 17772136 T C g.17772136T>C ENST00000259711.6 c.4476+3A>G p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation ITPR3 chr6 33623668 33623669 - TG g.33623668_33623669insTG ENST00000374316.5 c.282+4_282+5insTG p.? splice_region_variant,intron_variant damaging Mahlavu Truncating Mutation MAPK14 chr6 36027070 36027071 - T g.36027071dup ENST00000229794.4 c.252dup p.Gly85TrpfsX17 frameshift_variant damaging Mahlavu Truncating Mutation UNC5CL chr6 40999487 40999487 G A g.40999487G>A ENST00000244565.3 c.1052C>T p.Ala351Val (Splice) missense_variant,splice_region_variant damaging Mahlavu Truncating Mutation SLC22A7 chr6 43270112 43270113 - C g.43270112dup ENST00000372585.5 c.1236dup p.Thr413HisfsX8 frameshift_variant damaging Mahlavu Truncating Mutation LAMB4 chr7 107674792 107674792 C G g.107674792C>G ENST00000205386.4 c.4680-1G>C p.E1560_splice splice_acceptor_variant damaging Mahlavu Truncating Mutation IMPDH1 chr7 128034652 128034652 C T g.128034652C>T ENST00000480861.1 c.1282G>A p.Glu433Lys (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Truncating Mutation ZC3HC1 chr7 129658544 129658544 A - g.129658544del ENST00000358303.4 c.1469del p.Phe490SerfsX23 frameshift_variant damaging Mahlavu Truncating Mutation ZAN chr7 100365614 100365614 G A g.100365614G>A ENST00000348028.3 c.5021G>A p.Gly1674Asp missense_variant probably damaging Mahlavu Truncating Mutation GPC2 chr7 99769025 99769025 C A g.99769025C>A ENST00000292377.2 c.1345G>T p.Glu449X stop_gained damaging Mahlavu Truncating Mutation PEBP4 chr8 22571038 22571038 T - g.22571038del ENST00000256404.6 c.529del p.Met177TrpfsX5 frameshift_variant damaging Mahlavu Truncating Mutation COL27A1 chr9 117027755 117027755 G A g.117027755G>A ENST00000356083.3 c.3393G>A p.P1131P (Splice) splice_region_variant,synonymous_variant damaging Mahlavu Truncating Mutation OR1J4 chr9 125281866 125281866 G A g.125281866G>A ENST00000340750.1 c.447G>A p.Trp149X stop_gained damaging Mahlavu Truncating Mutation DOCK11 chrX 117810012 117810012 A T g.117810012A>T ENST00000276202.7 c.5313A>T p.Gln1771His (Splice) missense_variant,splice_region_variant probably damaging Mahlavu Truncating Mutation MAGEA8 chrX 149013224 149013225 - G g.149013225dup ENST00000286482.1 c.179dup p.Ser60ArgfsX7 frameshift_variant damaging Mahlavu Truncating Mutation TEX11 chrX 69748952 69748952 G C g.69748952G>C ENST00000344304.3 c.2816C>G p.Ser939X stop_gained damaging Mahlavu Truncating Mutation RGAG4 chrX 71351232 71351232 G T g.71351232G>T ENST00000479991.1 c.159C>A p.Tyr53X stop_gained,NMD_transcript_variant damaging PLC/PRF5 Truncating Mutation AMIGO1 chr1 110051415 110051415 G T g.110051415G>T ENST00000369862.1 c.120C>A p.Cys40X stop_gained damaging PLC/PRF5 Truncating Mutation SELENBP1 chr1 151339231 151339231 G A g.151339231G>A ENST00000368868.5 c.631C>T p.Arg211X stop_gained damaging PLC/PRF5 Truncating Mutation LELP1 chr1 153177276 153177276 C A g.153177276C>A ENST00000368747.1 c.93C>A p.Cys31X stop_gained damaging PLC/PRF5 Truncating Mutation COPA chr1 160293321 160293321 C A g.160293321C>A ENST00000241704.7 c.607-1G>T p.G203_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation TPR chr1 186331005 186331006 - A g.186331005dup ENST00000367478.4 c.790-4dup p.? intron_variant damaging PLC/PRF5 Truncating Mutation BRINP3 chr1 190250686 190250686 G A g.190250686G>A ENST00000367462.3 c.427+4C>T p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation CACNA1S chr1 201009409 201009409 C A g.201009409C>A ENST00000362061.3 c.5320G>T p.Glu1774X stop_gained damaging PLC/PRF5 Truncating Mutation EDARADD chr1 236645842 236645842 G T g.236645842G>T ENST00000334232.4 c.541G>T p.Glu181X stop_gained damaging PLC/PRF5 Truncating Mutation FAM76A chr1 28053982 28053982 G T g.28053982G>T ENST00000010299.6 c.82-1G>T p.E28_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation TOE1 chr1 45808750 45808750 C T g.45808750C>T ENST00000372090.5 c.913-4C>T p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation TOE1 chr1 45809199 45809220 ATGTGGAAGTGAGCCAGGGACC - g.45809199_45809220del ENST00000372090.5 c.1358_1379del p.Tyr453CysfsX19 frameshift_variant damaging PLC/PRF5 Truncating Mutation ATG4C chr1 63282275 63282275 G T g.63282275G>T ENST00000317868.4 c.190G>T p.Gly64X stop_gained damaging PLC/PRF5 Truncating Mutation C10orf113 chr10 21415016 21415016 C A g.21415016C>A ENST00000529198.1 c.239G>T p.X80LeuextX60 stop_lost NA PLC/PRF5 Truncating Mutation NET1 chr10 5493901 5493901 G T g.5493901G>T ENST00000355029.4 c.363+1G>T p.Q121_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation MUC6 chr11 1031224 1031224 G T g.1031224G>T ENST00000421673.2 c.519C>A p.Cys173X stop_gained damaging PLC/PRF5 Truncating Mutation MUC5B chr11 1254442 1254442 C A g.1254442C>A ENST00000529681.1 c.2265C>A p.Tyr755X stop_gained damaging PLC/PRF5 Truncating Mutation CCDC73 chr11 32657241 32657241 C T g.32657241C>T ENST00000335185.5 c.1185+1G>A p.Q395_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation OR52D1 chr11 5510499 5510500 - C g.5510501dup ENST00000322641.5 c.565dup p.Arg189ProfsX47 frameshift_variant damaging PLC/PRF5 Truncating Mutation HRASLS5 chr11 63235851 63235851 G T g.63235851G>T ENST00000301790.4 c.462C>A p.Cys154X stop_gained damaging PLC/PRF5 Truncating Mutation PCNXL3 chr11 65402440 65402441 - T g.65402441dup ENST00000355703.3 c.4806-3dup p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation KSR2 chr12 118293356 118293356 C A g.118293356C>A ENST00000425217.1 c.262G>T p.Glu88X stop_gained damaging PLC/PRF5 Truncating Mutation POLE chr12 133252406 133252406 C A g.133252406C>A ENST00000320574.5 c.1021G>T p.Ala341Ser (Splice) missense_variant,splice_region_variant damaging PLC/PRF5 Truncating Mutation MUC19 chr12 40802115 40802115 C A g.40802115C>A XM_003846356.2 c.302C>A p.Ala101Asp missense_variant NA PLC/PRF5 Truncating Mutation NELL2 chr12 45173806 45173806 C T g.45173806C>T ENST00000333837.4 c.405-1G>A p.R112_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation ZNF641 chr12 48741871 48741871 C A g.48741871C>A ENST00000301042.3 c.45G>T p.Met15Ile missense_variant benign PLC/PRF5 Truncating Mutation LRP1 chr12 57589866 57589866 G T g.57589866G>T ENST00000243077.3 c.8702-4G>T p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation INHBE chr12 57849877 57849877 A G g.57849877A>G ENST00000266646.2 c.299A>G p.Asp100Gly (Splice) missense_variant,splice_region_variant damaging PLC/PRF5 Truncating Mutation PPFIA2 chr12 81655818 81655818 A C g.81655818A>C ENST00000549396.1 c.3717T>G p.V1239V (Splice) splice_region_variant,synonymous_variant damaging PLC/PRF5 Truncating Mutation TMCC3 chr12 94975836 94975836 G T g.94975836G>T ENST00000261226.4 c.557C>A p.Ser186X stop_gained damaging PLC/PRF5 Truncating Mutation ARHGEF7 chr13 111896546 111896546 G T g.111896546G>T ENST00000375741.2 c.918G>T p.Lys306Asn (Splice) missense_variant,splice_region_variant damaging PLC/PRF5 Truncating Mutation MYCBP2 chr13 77768380 77768380 C T g.77768380C>T ENST00000407578.2 c.3844-1G>A p.Leu1244_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation OR10G3 chr14 22038471 22038472 CA - g.22038471_22038472del ENST00000303532.1 c.404_405del p.Val135AlafsX5 frameshift_variant damaging PLC/PRF5 Truncating Mutation UNC79 chr14 94088038 94088038 G T g.94088038G>T ENST00000256339.4 c.3928G>T p.Glu1310X stop_gained damaging PLC/PRF5 Truncating Mutation LTK chr15 41804994 41804994 G T g.41804994G>T ENST00000263800.6 c.270C>A p.Tyr90X stop_gained damaging PLC/PRF5 Truncating Mutation CATSPER2 chr15 43928238 43928238 C G g.43928238C>G ENST00000321596.5 c.1021+1G>C p.V341_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation TRIP4 chr15 64710854 64710854 G T g.64710854G>T ENST00000261884.3 c.1285G>T p.Glu429X stop_gained damaging PLC/PRF5 Truncating Mutation CCDC33 chr15 74560733 74560733 C A g.74560733C>A ENST00000398814.3 c.480C>A p.Tyr160X stop_gained damaging PLC/PRF5 Truncating Mutation MCTP2 chr15 94901845 94901845 A G g.94901845A>G ENST00000357742.4 c.1301+4A>G p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation SLC5A2 chr16 31500501 31500501 G T g.31500501G>T ENST00000330498.3 c.1507G>T p.Glu503X stop_gained damaging PLC/PRF5 Truncating Mutation RP11-105C20.2 chr16 59772028 59772028 G T g.59772028G>T ENST00000564533.1 c.204C>A p.C68X stop_gained damaging PLC/PRF5 Truncating Mutation PITPNA chr17 1461822 1461822 C A g.1461822C>A ENST00000313486.7 c.51+1G>T p.E17_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation TRIM16 chr17 15531973 15531973 C A g.15531973C>A ENST00000336708.7 c.1651G>T p.Glu551X stop_gained damaging PLC/PRF5 Truncating Mutation MYO18A chr17 27419476 27419476 T G g.27419476T>G ENST00000354329.4 c.5074-2A>C p.L1692_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation TMEM99 chr17 38991108 38991108 G T g.38991108G>T ENST00000301665.3 c.340G>T p.Gly114X stop_gained damaging PLC/PRF5 Truncating Mutation CNTD1 chr17 40961383 40961383 G T g.40961383G>T ENST00000588408.1 c.823G>T p.Val275Phe (Splice) missense_variant,splice_region_variant damaging PLC/PRF5 Truncating Mutation COL5A3 chr19 10104295 10104295 C G g.10104295C>G ENST00000264828.3 c.1695G>C p.Arg565Ser (Splice) missense_variant,splice_region_variant probably damaging PLC/PRF5 Truncating Mutation SMARCA4 chr19 11145628 11145628 C - g.11145631del ENST00000344626.4 c.3993del p.Lys1332SerfsX26 frameshift_variant damaging PLC/PRF5 Truncating Mutation ZNF571 chr19 38056438 38056438 G A g.38056438G>A ENST00000328550.2 c.892C>T p.Gln298X stop_gained damaging PLC/PRF5 Truncating Mutation ZNF628 chr19 55993932 55993932 G T g.55993932G>T ENST00000391718.2 c.1360G>T p.Glu454X stop_gained damaging PLC/PRF5 Truncating Mutation GRHL1 chr2 10104172 10104172 G A g.10104172G>A ENST00000324907.9 c.903+1G>A p.R301_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation NEB chr2 152522600 152522600 A G g.152522600A>G ENST00000172853.10 c.5031+4T>C p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation HNRNPA3 chr2 178081439 178081439 G T g.178081439G>T ENST00000392524.2 c.679G>T p.Gly227X stop_gained damaging PLC/PRF5 Truncating Mutation HIBCH chr2 191152308 191152308 T C g.191152308T>C ENST00000359678.5 c.438+4A>G p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation VIL1 chr2 219303450 219303450 G A g.219303450G>A ENST00000248444.5 c.2229+1G>A p.A743_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation CYP27A1 chr2 219677148 219677148 C T g.219677148C>T ENST00000258415.4 c.646+4C>T p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation CCDC108 chr2 219896031 219896031 G A g.219896031G>A ENST00000341552.5 c.816-4C>T p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation FBXO41 chr2 73493022 73493022 C T g.73493022C>T ENST00000520530.2 c.1204G>A p.Gly402Arg (Splice) missense_variant,splice_region_variant probably damaging PLC/PRF5 Truncating Mutation RRBP1 chr20 17597487 17597487 G T g.17597487G>T ENST00000360807.4 c.2461-3C>A p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation NELFCD chr20 57556399 57556399 G - g.57556402del ENST00000602795.1 c.92del p.Gly31AlafsX45 frameshift_variant damaging PLC/PRF5 Truncating Mutation CHRNA4 chr20 61991055 61991055 C T g.61991055C>T ENST00000370263.4 c.77-4G>A p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation SON chr21 34915479 34915479 A G g.34915479A>G ENST00000290239.6 c.77+4A>G p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation TTC3 chr21 38501364 38501364 G C g.38501364G>C ENST00000354749.2 c.1358+1G>C p.S453_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation SLC37A1 chr21 43967249 43967249 C G g.43967249C>G ENST00000352133.2 c.767C>G p.Thr256Arg (Splice) missense_variant,splice_region_variant damaging PLC/PRF5 Truncating Mutation APOL5 chr22 36124927 36124927 G - g.36124929del ENST00000249044.2 c.1286del p.Gly429GlufsX15 frameshift_variant damaging PLC/PRF5 Truncating Mutation CD200 chr3 112059820 112059820 C A g.112059820C>A ENST00000315711.8 c.84C>A p.Cys28X stop_gained damaging PLC/PRF5 Truncating Mutation KIAA1407 chr3 113729727 113729728 - T g.113729727dup ENST00000295878.3 c.1305dup p.Leu436ThrfsX22 frameshift_variant damaging PLC/PRF5 Truncating Mutation POLQ chr3 121208774 121208774 C A g.121208774C>A ENST00000264233.5 c.3004G>T p.Gly1002X stop_gained damaging PLC/PRF5 Truncating Mutation DYNC1LI1 chr3 32586601 32586601 A G g.32586601A>G ENST00000273130.4 c.338-3T>C p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation TTC25 chr17 40087071 40087071 C A g.40087071C>A NM_031421.2 c.95C>A p.Ala32Asp missense_variant probably damaging PLC/PRF5 Truncating Mutation TSPAN10 chr17 79612283 79612283 G T g.79612283G>T NM_001290212.1 c.416G>T p.Gly139Val missense_variant probably damaging PLC/PRF5 Truncating Mutation PCDH10 chr4 134071772 134071772 C A g.134071772C>A ENST00000264360.5 c.477C>A p.Tyr159X stop_gained damaging PLC/PRF5 Truncating Mutation RASGEF1B chr4 82354993 82354993 C A g.82354993C>A ENST00000264400.2 c.1324+1G>T p.A442_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation AQPEP chr5 115319105 115319106 - A g.115319105_115319106insA ENST00000357872.4 c.817_818insA p.L273fs frameshift_variant damaging PLC/PRF5 Truncating Mutation RNF14 chr5 141358135 141358135 G T g.141358135G>T ENST00000347642.3 c.574G>T p.Glu192X stop_gained damaging PLC/PRF5 Truncating Mutation TRIO chr5 14504705 14504705 G A g.14504705G>A ENST00000344204.4 c.8612+3G>A p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation JAKMIP2 chr5 147020389 147020389 A G g.147020389A>G ENST00000265272.5 c.1282-3T>C p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation LMAN2 chr5 176764525 176764525 G T g.176764525G>T ENST00000303127.7 c.514C>A p.Arg172Ser (Splice) missense_variant,splice_region_variant probably damaging PLC/PRF5 Truncating Mutation GRK6 chr5 176857967 176857967 C T g.176857967C>T ENST00000355472.5 c.147C>T p.L49L (Splice) splice_region_variant,synonymous_variant damaging PLC/PRF5 Truncating Mutation FAM193B chr5 176981348 176981348 C A g.176981348C>A ENST00000506955.1 c.112G>T p.Glu38X stop_gained,NMD_transcript_variant damaging PLC/PRF5 Truncating Mutation GRM1 chr6 146720623 146720623 C A g.146720623C>A ENST00000282753.1 c.2448C>A p.Cys816X stop_gained damaging PLC/PRF5 Truncating Mutation SNX9 chr6 158331056 158331056 A T g.158331056A>T ENST00000392185.3 c.948A>T p.T316T (Splice) splice_region_variant,synonymous_variant damaging PLC/PRF5 Truncating Mutation FLOT1 chr6 30709390 30709390 C T g.30709390C>T ENST00000376389.3 c.210+1G>A p.Q70_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation SKIV2L chr6 31926994 31926994 G A g.31926994G>A ENST00000375394.2 c.22+3G>A p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation TULP1 chr6 35467758 35467758 G A g.35467758G>A ENST00000229771.6 c.1495C>T p.Pro499Ser (Splice) missense_variant,splice_region_variant possibly damaging PLC/PRF5 Truncating Mutation PTK7 chr6 43107143 43107143 G T g.43107143G>T ENST00000230418.4 c.1499-1G>T p.E500_splice splice_acceptor_variant,NMD_transcript_variant damaging PLC/PRF5 Truncating Mutation TTBK1 chr6 43251032 43251032 G T g.43251032G>T ENST00000259750.4 c.2554G>T p.Glu852X stop_gained damaging PLC/PRF5 Truncating Mutation SCIN chr7 12610494 12610494 G T g.12610494G>T ENST00000297029.5 c.82G>T p.Glu28X stop_gained damaging PLC/PRF5 Truncating Mutation GABRR3 chr3 97753707 97753707 C A g.97753707C>A ENST00000472788.1 c.125G>T p.Cys42Phe (Splice) missense_variant,splice_region_variant damaging PLC/PRF5 Truncating Mutation WDR86 chr7 151078772 151078772 G T g.151078772G>T ENST00000477459.1 c.507C>A p.Cys169X stop_gained possibly damaging PLC/PRF5 Truncating Mutation KMT2C chr7 151884933 151884933 C A g.151884933C>A ENST00000262189.6 c.4661-1G>T p.D1554_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation SHH chr7 155593268 155593268 C G g.155593268C>G ENST00000435425.1 c.325G>C p.Glu109Gln missense_variant,NMD_transcript_variant NA PLC/PRF5 Truncating Mutation HDAC9 chr7 18684293 18684293 G T g.18684293G>T ENST00000524023.1 c.673-1G>T p.Q302_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation NFE2L3 chr7 26224533 26224584 AATCGATGTTTCTCAGCTTTTTGATGAACCAGATTCTGATTCTGGCCTTTCT - g.26224533_26224584del ENST00000056233.3 c.1215_1266del p.Ile406X frameshift_variant damaging PLC/PRF5 Truncating Mutation CPVL chr7 29111455 29111455 G C g.29111455G>C ENST00000265394.5 c.798C>G p.Tyr266X stop_gained damaging PLC/PRF5 Truncating Mutation ANKRD46 chr8 101541750 101541750 C A g.101541750C>A ENST00000335659.3 c.311+1G>T p.C104_splice splice_donor_variant damaging PLC/PRF5 Truncating Mutation OXR1 chr8 107371843 107371843 T A g.107371843T>A ENST00000445937.1 c.2T>A p.Met1? start_lost probably damaging PLC/PRF5 Truncating Mutation TONSL chr8 145665730 145665730 G C g.145665730G>C ENST00000409379.3 c.1290+4C>G p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation ARHGEF10 chr8 1876806 1876806 G T g.1876806G>T ENST00000349830.3 c.2911G>T p.Glu971X stop_gained damaging PLC/PRF5 Truncating Mutation AP3M2 chr8 42025181 42025181 A T g.42025181A>T ENST00000174653.3 c.1012-3A>T p.? splice_region_variant,intron_variant damaging PLC/PRF5 Truncating Mutation TCEA1 chr8 54912556 54912556 C A g.54912556C>A ENST00000518784.1 c.181G>T p.Glu61X stop_gained damaging PLC/PRF5 Truncating Mutation XKR4 chr8 56015584 56015584 C - g.56015585del ENST00000327381.6 c.537del p.Ala180LeufsX97 frameshift_variant damaging PLC/PRF5 Truncating Mutation GABBR2 chr9 101068466 101068466 G T g.101068466G>T ENST00000259455.2 c.2166C>A p.Cys722X stop_gained damaging PLC/PRF5 Truncating Mutation MAMDC4 chr9 139755012 139755013 - AGG g.139755012_139755013insAGG ENST00000317446.2 c.3373-2_3373-1insAGG p.D1125_splice splice_acceptor_variant damaging PLC/PRF5 Truncating Mutation ERMP1 chr9 5830728 5830728 T A g.5830728T>A ENST00000339450.5 c.639A>T p.P213P (Splice) splice_region_variant,synonymous_variant damaging PLC/PRF5 Truncating Mutation FAM120A chr9 96305752 96305752 C T g.96305752C>T ENST00000277165.6 c.2158C>T p.Arg720Trp (Splice) missense_variant,splice_region_variant probably damaging PLC/PRF5 Truncating Mutation CSAG1 chrX 151904522 151904522 A G g.151904522A>G ENST00000361211.5 c.16+4A>G p.? splice_region_variant,intron_variant,NMD_transcript_variant damaging PLC/PRF5 Truncating Mutation F8 chrX 154128137 154128137 T G g.154128137T>G ENST00000360256.4 c.6273+4A>C p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation CERS2 chr1 150940556 150940556 C A g.150940556C>A ENST00000271688.6 c.410+3G>T p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation MTF2 chr1 93599644 93599644 T G g.93599644T>G ENST00000370298.4 c.1320-4T>G p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation FNBP1L chr1 93989819 93989819 A G g.93989819A>G ENST00000260506.8 c.344A>G p.His115Arg (Splice) missense_variant,splice_region_variant probably damaging HLE Truncating Mutation EXOC6 chr10 94594503 94594504 AA - g.94594503_94594504del ENST00000371552.4 c.8_9del p.Glu3GlyfsX8 frameshift_variant damaging HLE Truncating Mutation KIAA1033 chr12 105515896 105515896 G A g.105515896G>A ENST00000332180.5 c.666G>A p.R222R (Splice) splice_region_variant,synonymous_variant damaging HLE Truncating Mutation COL4A2 chr13 111130348 111130348 A G g.111130348A>G ENST00000360467.5 c.2426-2A>G p.G809_splice splice_acceptor_variant damaging HLE Truncating Mutation ENOX1 chr13 43987050 43987050 T C g.43987050T>C ENST00000261488.6 c.1A>G p.Met1? start_lost benign HLE Truncating Mutation MIPOL1 chr14 37736229 37736229 A - g.37736232del ENST00000327441.7 c.109del p.Ser37ValfsX9 frameshift_variant damaging HLE Truncating Mutation SAV1 chr14 51107599 51107599 A C g.51107599A>C ENST00000324679.4 c.819T>G p.Tyr273X stop_gained damaging HLE Truncating Mutation PLA2G4E chr15 42275978 42275978 G - g.42275978delG ENST00000413860.2 c.2494del p.Arg832AlafsX2 frameshift_variant damaging HLE Truncating Mutation CD276 chr15 74000818 74000818 A T g.74000818A>T ENST00000318443.5 c.1504+4A>T p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation HAPLN3 chr15 89424589 89424589 C G g.89424589C>G ENST00000359595.3 c.492G>C p.R164R (Splice) splice_region_variant,synonymous_variant damaging HLE Truncating Mutation DYNC1LI2 chr16 66769975 66769975 C T g.66769975C>T ENST00000258198.2 c.699+3G>A p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation NF1 chr17 29533393 29533393 A G g.29533393A>G ENST00000356175.3 c.1392+4A>G p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation KANSL1 chr17 44127941 44127941 G A g.44127941G>A ENST00000262419.6 c.1978C>T p.Gln660X stop_gained damaging HLE Truncating Mutation ALOXE3 chr17 8012489 8012490 - CACCTCT g.8012489_8012490insCACCTCT ENST00000318227.3 c.1958+2_1958+3insAGAGGTG p.S521_splice splice_region_variant,intron_variant damaging HLE Truncating Mutation EPB41L3 chr18 5395608 5395608 T C g.5395608T>C ENST00000341928.2 c.3072A>G p.K1024K (Splice) splice_region_variant,synonymous_variant damaging HLE Truncating Mutation ZNF493 chr19 21587982 21587982 C T g.21587982C>T ENST00000339914.6 c.82C>T p.Gln28X stop_gained damaging HLE Truncating Mutation ZNF766 chr19 52793408 52793408 G T g.52793408G>T ENST00000439461.1 c.364G>T p.Glu122X stop_gained damaging HLE Truncating Mutation ZNF610 chr19 52856990 52856997 CCCTGGAC - g.52856992_52856999del ENST00000321287.8 c.121_128del p.Leu41TrpfsX26 frameshift_variant damaging HLE Truncating Mutation C3 chr19 6710690 6710690 T - g.6710690del ENST00000245907.6 c.1646del p.Asp549AlafsX17 frameshift_variant damaging HLE Truncating Mutation ATAD2B chr2 24033183 24033183 T C g.24033183T>C ENST00000238789.5 c.2454+3A>G p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation FNDC4 chr2 27717517 27717518 - G g.27717517dup ENST00000264703.3 c.30dup p.Ser11GlnfsX28 frameshift_variant damaging HLE Truncating Mutation ABCG5 chr2 44051574 44051575 - A g.44051574dup ENST00000260645.1 c.905-3dup p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation TMPRSS15 chr21 19653355 19653356 - A g.19653355dup ENST00000284885.3 c.2668+2dup p.D890_splice splice_donor_variant damaging HLE Truncating Mutation CLTCL1 chr22 19263356 19263356 A C g.19263356A>C ENST00000263200.10 c.43-3T>G p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation PES1 chr22 30984161 30984161 C T g.30984161C>T ENST00000335214.6 c.105G>A p.R35R (Splice) splice_region_variant,synonymous_variant damaging HLE Truncating Mutation SGSM3 chr22 40804701 40804701 G A g.40804701G>A ENST00000248929.9 c.1853G>A p.Arg618Lys (Splice) missense_variant,splice_region_variant damaging HLE Truncating Mutation PCDHB16 chr5 140563290 140563290 C T g.140563290C>T ENST00000361016.2 c.1156C>T p.Gln386X stop_gained damaging HLE Truncating Mutation HLA-DMA chr6 32916648 32916648 G A g.32916648G>A ENST00000374843.4 c.782-3C>T p.? splice_region_variant,intron_variant damaging HLE Truncating Mutation CRISP1 chr6 49803071 49803072 - T g.49803071dup ENST00000335847.4 c.708dup p.Phe237IlefsX3 frameshift_variant damaging HLE Truncating Mutation IGLV9-49 chr22 22697946 22697946 G - g.22697946delG NA c.238del p.Asp80MetfsX14 frameshift_variant damaging HLE Truncating Mutation IGLV9-49 chr22 22697951 22697951 A T g.22697951A>T ENST00000427632.2 c.239A>T p.Asp80Val missense_variant NA HLE Truncating Mutation KEL chr7 142659292 142659292 A G g.142659292A>G ENST00000355265.2 c.2T>C p.Met1? (Splice) start_lost,splice_region_variant damaging HLE Truncating Mutation TAS2R40 chr7 142919224 142919224 T - g.142919224del ENST00000408947.3 c.53del p.Val18AlafsX10 frameshift_variant damaging HLE Truncating Mutation SLC30A8 chr8 118159189 118159189 A G g.118159189A>G ENST00000456015.2 c.72-4A>G p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation CERS2 chr1 150940556 150940556 C A g.150940556C>A ENST00000271688.6 c.410+3G>T p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation DARC chr1 159175541 159175541 G - g.159175543del ENST00000368121.2 c.320del p.Gly107AlafsX16 frameshift_variant damaging HLF Truncating Mutation RGS2 chr1 192780138 192780138 T A g.192780138T>A ENST00000235382.5 c.302T>A p.Leu101X stop_gained damaging HLF Truncating Mutation MTF2 chr1 93599644 93599644 T G g.93599644T>G ENST00000370298.4 c.1320-4T>G p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation FNBP1L chr1 93989819 93989819 A G g.93989819A>G ENST00000260506.8 c.344A>G p.His115Arg (Splice) missense_variant,splice_region_variant probably damaging HLF Truncating Mutation CCAR1 chr10 70513823 70513824 - T g.70513823dup ENST00000265872.6 c.1333dup p.Tyr445LeufsX10 frameshift_variant damaging HLF Truncating Mutation FFAR4 chr10 95326798 95326798 C - g.95326801del ENST00000371481.4 c.324del p.Val109LeufsX9 frameshift_variant damaging HLF Truncating Mutation NUP98 chr11 3704637 3704637 G - g.3704637del ENST00000324932.7 c.4711del p.Arg1571GlyfsX45 frameshift_variant damaging HLF Truncating Mutation KIAA1033 chr12 105515896 105515896 G A g.105515896G>A ENST00000332180.5 c.666G>A p.R222R (Splice) splice_region_variant,synonymous_variant damaging HLF Truncating Mutation PRIM1 chr12 57140718 57140728 TCTCCTCACAT - g.57140718_57140728del ENST00000338193.6 c.350_360del p.Asp117ValfsX3 frameshift_variant damaging HLF Truncating Mutation COL4A2 chr13 111130348 111130348 A G g.111130348A>G ENST00000360467.5 c.2426-2A>G p.G809_splice splice_acceptor_variant damaging HLF Truncating Mutation ENOX1 chr13 43987050 43987050 T C g.43987050T>C ENST00000261488.6 c.1A>G p.Met1? start_lost benign HLF Truncating Mutation MIPOL1 chr14 37736229 37736229 A - g.37736232del ENST00000327441.7 c.109del p.Ser37ValfsX9 frameshift_variant damaging HLF Truncating Mutation SAV1 chr14 51107599 51107599 A C g.51107599A>C ENST00000324679.4 c.819T>G p.Tyr273X stop_gained damaging HLF Truncating Mutation PLA2G4E chr15 42275978 42275978 G - g.42275978delG ENST00000413860.2 c.2494del p.Arg832AlafsX2 frameshift_variant damaging HLF Truncating Mutation CD276 chr15 74000818 74000818 A T g.74000818A>T ENST00000318443.5 c.1504+4A>T p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation HAPLN3 chr15 89424589 89424589 C G g.89424589C>G ENST00000359595.3 c.492G>C p.R164R (Splice) splice_region_variant,synonymous_variant damaging HLF Truncating Mutation LOC100130301 chr8 74169293 74169293 G A g.74169293G>A NM_001243237.1 c.196C>T p.Gln66X stop_gained damaging HLF Truncating Mutation DYNC1LI2 chr16 66769975 66769975 C T g.66769975C>T ENST00000258198.2 c.699+3G>A p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation NF1 chr17 29533393 29533393 A G g.29533393A>G ENST00000356175.3 c.1392+4A>G p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation KANSL1 chr17 44127941 44127941 G A g.44127941G>A ENST00000262419.6 c.1978C>T p.Gln660X stop_gained damaging HLF Truncating Mutation ALOXE3 chr17 8012489 8012490 - CACCTCT g.8012489_8012490insCACCTCT ENST00000318227.3 c.1958+2_1958+3insAGAGGTG p.S521_splice splice_region_variant,intron_variant damaging HLF Truncating Mutation EPB41L3 chr18 5395608 5395608 T C g.5395608T>C ENST00000341928.2 c.3072A>G p.K1024K (Splice) splice_region_variant,synonymous_variant damaging HLF Truncating Mutation ZNF493 chr19 21587982 21587982 C T g.21587982C>T ENST00000339914.6 c.82C>T p.Gln28X stop_gained damaging HLF Truncating Mutation SIGLEC5 chr19 52132699 52132699 G - g.52132699del ENST00000222107.4 c.612del p.Glu205ArgfsX11 frameshift_variant damaging HLF Truncating Mutation ZNF766 chr19 52793408 52793408 G T g.52793408G>T ENST00000439461.1 c.364G>T p.Glu122X stop_gained damaging HLF Truncating Mutation C3 chr19 6710690 6710690 T - g.6710690del ENST00000245907.6 c.1646del p.Asp549AlafsX17 frameshift_variant damaging HLF Truncating Mutation RHBDD1 chr2 227779064 227779064 C T g.227779064C>T ENST00000341329.3 c.853C>T p.Arg285X stop_gained damaging HLF Truncating Mutation ATAD2B chr2 24033183 24033183 T C g.24033183T>C ENST00000238789.5 c.2454+3A>G p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation ABCG5 chr2 44051574 44051575 - A g.44051574dup ENST00000260645.1 c.905-3dup p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation CLTCL1 chr22 19263356 19263356 A C g.19263356A>C ENST00000263200.10 c.43-3T>G p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation PES1 chr22 30984161 30984161 C T g.30984161C>T ENST00000335214.6 c.105G>A p.R35R (Splice) splice_region_variant,synonymous_variant damaging HLF Truncating Mutation SGSM3 chr22 40804701 40804701 G A g.40804701G>A ENST00000248929.9 c.1853G>A p.Arg618Lys (Splice) missense_variant,splice_region_variant damaging HLF Truncating Mutation TMPRSS7 chr3 111799851 111799851 C T g.111799851C>T ENST00000419127.1 c.2074C>T p.Arg692X stop_gained damaging HLF Truncating Mutation IGSF10 chr3 151161353 151161354 - A g.151161353dup ENST00000282466.3 c.5382dup p.Arg1795X frameshift_variant damaging HLF Truncating Mutation PCDHB16 chr5 140563290 140563290 C T g.140563290C>T ENST00000361016.2 c.1156C>T p.Gln386X stop_gained damaging HLF Truncating Mutation HLA-DMA chr6 32916648 32916648 G A g.32916648G>A ENST00000374843.4 c.782-3C>T p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation CRISP1 chr6 49803071 49803072 - T g.49803071dup ENST00000335847.4 c.708dup p.Phe237IlefsX3 frameshift_variant damaging HLF Truncating Mutation IGLV9-49 chr22 22697946 22697946 G - g.22697946delG NA c.238del p.Asp80MetfsX14 frameshift_variant damaging HLF Truncating Mutation IGLV9-49 chr22 22697951 22697951 A T g.22697951A>T ENST00000427632.2 c.239A>T p.Asp80Val missense_variant NA HLF Truncating Mutation KEL chr7 142659292 142659292 A G g.142659292A>G ENST00000355265.2 c.2T>C p.Met1? (Splice) start_lost,splice_region_variant damaging HLF Truncating Mutation TAS2R40 chr7 142919224 142919224 T - g.142919224del ENST00000408947.3 c.53del p.Val18AlafsX10 frameshift_variant damaging HLF Truncating Mutation SLC30A8 chr8 118159189 118159189 A G g.118159189A>G ENST00000456015.2 c.72-4A>G p.? splice_region_variant,intron_variant damaging HLF Truncating Mutation SCML2 chrX 18338539 18338539 C G g.18338539C>G ENST00000251900.4 c.399G>C p.G133G (Splice) splice_region_variant,synonymous_variant damaging Huh6 Truncating Mutation CLCC1 chr1 109484105 109484106 - G g.109484105dup ENST00000356970.2 c.718dup p.His240ProfsX4 frameshift_variant damaging Huh6 Truncating Mutation C1orf127 chr1 11026450 11026450 G A g.11026450G>A ENST00000377004.4 c.337C>T p.Arg113X stop_gained damaging Huh6 Truncating Mutation ATP1A4 chr1 160144538 160144538 G T g.160144538G>T ENST00000368081.4 c.2311+1G>T p.G771_splice splice_donor_variant damaging Huh6 Truncating Mutation ERO1LB chr1 236393553 236393554 GA - g.236393553_236393554del ENST00000354619.5 c.686-4_686-3del p.? intron_variant damaging Huh6 Truncating Mutation DCLRE1A chr10 115601205 115601205 G T g.115601205G>T ENST00000361384.2 c.2780C>A p.Ser927X stop_gained damaging Huh6 Truncating Mutation PCDH15 chr10 55755528 55755528 G A g.55755528G>A ENST00000320301.6 c.2752-3C>T p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation FBXO18 chr10 5967454 5967454 T G g.5967454T>G ENST00000362091.4 c.2721T>G p.V907V (Splice) splice_region_variant,synonymous_variant damaging Huh6 Truncating Mutation ATM chr11 108143337 108143337 G C g.108143337G>C ENST00000278616.4 c.3153+3G>C p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation PATE3 chr11 125660388 125660397 TATCATACAT - g.125660388_125660397del ENST00000445202.1 c.188_197del p.Ile63ArgfsX10 frameshift_variant damaging Huh6 Truncating Mutation SLC22A10 chr11 63072171 63072171 G T g.63072171G>T ENST00000332793.6 c.1408G>T p.Gly470X stop_gained damaging Huh6 Truncating Mutation TENM4 chr11 78601064 78601064 G A g.78601064G>A ENST00000278550.7 c.850C>T p.His284Tyr (Splice) missense_variant,splice_region_variant possibly damaging Huh6 Truncating Mutation PDE3A chr12 20522723 20522724 - G g.20522729dup ENST00000359062.3 c.511dup p.Glu171GlyfsX49 frameshift_variant damaging Huh6 Truncating Mutation CALCOCO1 chr12 54118949 54118949 G - g.54118949del ENST00000262059.4 c.78del p.Asn27ThrfsX69 frameshift_variant damaging Huh6 Truncating Mutation PTPRB chr12 70932766 70932766 G T g.70932766G>T ENST00000261266.5 c.5153C>A p.Ser1718X stop_gained damaging Huh6 Truncating Mutation ECSCR chr5 138784782 138784782 A T g.138784782A>T NM_001077693.3 c.300T>A p.Ser198Arg missense_variant benign Huh6 Truncating Mutation TPTE2 chr13 20039688 20039688 G A g.20039688G>A ENST00000382977.4 c.529C>T p.Arg177X stop_gained damaging Huh6 Truncating Mutation POU4F1 chr13 79175699 79175699 C A g.79175699C>A ENST00000377208.5 c.1111G>T p.Glu371X stop_gained damaging Huh6 Truncating Mutation GPHN chr14 67346658 67346658 C A g.67346658C>A ENST00000315266.5 c.296C>A p.Ala99Asp (Splice) missense_variant,splice_region_variant possibly damaging Huh6 Truncating Mutation EPB42 chr15 43507290 43507290 T C g.43507290T>C ENST00000300215.3 c.520+3A>G p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation C15orf40 chr15 83677363 83677367 AGCAT - g.83677363_83677367del ENST00000451195.3 c.299_303del p.Asn100ArgfsX16 frameshift_variant damaging Huh6 Truncating Mutation ZNF771 chr16 30429436 30429437 TG - g.30429442_30429443del ENST00000319296.5 c.708_709del p.Cys236TrpfsX79 frameshift_variant damaging Huh6 Truncating Mutation ITGAX chr16 31382405 31382405 C T g.31382405C>T ENST00000268296.4 c.1711C>T p.Arg571Trp (Splice) missense_variant,splice_region_variant probably damaging Huh6 Truncating Mutation NCOR1 chr17 15961053 15961053 T G g.15961053T>G ENST00000268712.3 c.6169-2A>C p.Q2057_splice splice_acceptor_variant damaging Huh6 Truncating Mutation SERPINB3 chr18 61328073 61328074 - T g.61328073dup ENST00000283752.5 c.183dup p.Val62SerfsX15 frameshift_variant damaging Huh6 Truncating Mutation PGLYRP1 chr19 46526079 46526079 G T g.46526079G>T ENST00000008938.4 c.201C>A p.Cys67X stop_gained damaging Huh6 Truncating Mutation ROCK2 chr2 11354536 11354536 T A g.11354536T>A ENST00000315872.6 c.1990A>T p.Lys664X stop_gained damaging Huh6 Truncating Mutation CREB1 chr2 208434899 208434899 G C g.208434899G>C ENST00000374397.4 c.405-4G>C p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation FAM134A chr2 220044917 220044917 C T g.220044917C>T ENST00000430297.2 c.505C>T p.Gln169X stop_gained damaging Huh6 Truncating Mutation CHPF chr2 220404626 220404626 T A g.220404626T>A ENST00000243776.6 c.1807A>T p.Lys603X stop_gained damaging Huh6 Truncating Mutation DAW1 chr2 228758635 228758635 T G g.228758635T>G ENST00000309931.2 c.440+2T>G p.G147_splice splice_donor_variant damaging Huh6 Truncating Mutation ABCG5 chr2 44051574 44051575 - A g.44051574dup ENST00000260645.1 c.905-3dup p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation ERLEC1 chr2 54041997 54041997 G T g.54041997G>T ENST00000185150.4 c.1305G>T p.Lys435Asn (Splice) missense_variant,splice_region_variant probably damaging Huh6 Truncating Mutation ANKRD23 chr2 97505817 97505817 G - g.97505817del ENST00000318357.4 c.640del p.Leu214CysfsX23 frameshift_variant damaging Huh6 Truncating Mutation SIRPB1 chr20 1551447 1551447 G A g.1551447G>A ENST00000381605.4 c.1084+4C>T p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation MYOZ2 chr4 120057755 120057755 T C g.120057755T>C ENST00000307128.5 c.75T>C p.N25N (Splice) splice_region_variant,synonymous_variant damaging Huh6 Truncating Mutation CCNA2 chr4 122743804 122743805 - A g.122743804dup ENST00000274026.5 c.214-3dup p.? intron_variant damaging Huh6 Truncating Mutation ABLIM2 chr4 8031380 8031380 T C g.8031380T>C ENST00000296372.8 c.1168+3A>G p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation PPP2R2B chr5 146236097 146236097 A G g.146236097A>G ENST00000394410.2 c.2T>C p.Met1? start_lost benign Huh6 Truncating Mutation ATP10B chr5 160025981 160025981 C T g.160025981C>T ENST00000327245.5 c.3364-4G>A p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation DDX41 chr5 176939550 176939551 - G g.176939550dup ENST00000507955.1 c.1496dup p.Ala500CysfsX9 frameshift_variant damaging Huh6 Truncating Mutation LIFR chr5 38502900 38502900 C T g.38502900C>T ENST00000263409.4 c.1439G>A p.Arg480Gln (Splice) missense_variant,splice_region_variant probably damaging Huh6 Truncating Mutation MICAL1 chr6 109770925 109770925 G A g.109770925G>A ENST00000358807.3 c.1369C>T p.Gln457X stop_gained damaging Huh6 Truncating Mutation PLK1S1 chr20 21143083 21143083 C T g.21143083C>T NA NA NA NA probably damaging Huh6 Truncating Mutation PHF10 chr6 170104148 170104149 - G g.170104148dup ENST00000339209.4 c.1448dup p.Thr484AsnfsX18 frameshift_variant damaging Huh6 Truncating Mutation HIST1H4A chr6 26022173 26022173 C A g.26022173C>A ENST00000359907.3 c.267C>A p.Tyr89X stop_gained damaging Huh6 Truncating Mutation BTN1A1 chr6 26508197 26508197 C T g.26508197C>T ENST00000244513.6 c.879C>T p.L293L (Splice) splice_region_variant,synonymous_variant damaging Huh6 Truncating Mutation DPCR1 chr6 30916348 30916367 AGAAAACTGGGGAACTCTCA - g.30916349_30916368del ENST00000462446.1 c.108_127del p.Gln36HisfsX15 frameshift_variant damaging Huh6 Truncating Mutation HLA-DPB1 chr6 33053557 33053557 G T g.33053557G>T ENST00000418931.2 c.648G>T p.Lys216Asn (Splice) missense_variant,splice_region_variant possibly damaging Huh6 Truncating Mutation RARS2 chr6 88265148 88265148 T A g.88265148T>A ENST00000369536.5 c.373A>T p.Lys125X stop_gained damaging Huh6 Truncating Mutation ADH1C chr4 100268304 100268304 A G g.100268304A>G ENST00000515683.1 c.121-3T>C p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation INTS1 chr7 1520996 1520997 - G g.1520996dup ENST00000404767.3 c.3832dup p.Gln1278ProfsX18 frameshift_variant damaging Huh6 Truncating Mutation CCDC129 chr7 31697911 31697912 - C g.31697911_31697912insC ENST00000451887.2 c.3096dup p.Phe1033LeufsX9 frameshift_variant damaging Huh6 Truncating Mutation FBXO32 chr8 124526479 124526479 C T g.124526479C>T ENST00000517956.1 c.466+1G>A p.V156_splice splice_donor_variant damaging Huh6 Truncating Mutation POU5F1B chr8 128429030 128429030 G T g.128429030G>T ENST00000391675.1 c.919G>T p.Gly307X stop_gained damaging Huh6 Truncating Mutation KCP chr7 128522003 128522003 C T g.128522003C>T NM_001135914.1 c.3129G>A p.Thr1043%3D synonymous_variant NA Huh6 Truncating Mutation PMPCA chr9 139313492 139313492 G A g.139313492G>A ENST00000371717.3 c.1201-4G>A p.? splice_region_variant,intron_variant damaging Huh6 Truncating Mutation ZCCHC7 chr9 37304309 37304309 G A g.37304309G>A ENST00000336755.5 c.779G>A p.Arg260Gln (Splice) missense_variant,splice_region_variant damaging Huh6 Truncating Mutation ZCCHC6 chr9 88938189 88938204 AGTCTTCTAGTTCCTC - g.88938189_88938204del ENST00000375961.2 c.2461_2476del p.Glu821LeufsX2 frameshift_variant damaging Huh6 Truncating Mutation MAOB chrX 43652817 43652817 A T g.43652817A>T ENST00000378069.4 c.777T>A p.Tyr259X stop_gained damaging Li7 Truncating Mutation CALML6 chr1 1847904 1847904 A - g.1847904del ENST00000307786.3 c.103del p.Ile35SerfsX19 frameshift_variant damaging Li7 Truncating Mutation LHX8 chr1 75622760 75622761 - T g.75622760dup ENST00000294638.5 c.993dup p.Ala332CysfsX55 frameshift_variant,splice_region_variant damaging Li7 Truncating Mutation RAB11FIP2 chr10 119798730 119798731 - AA g.119798731_119798732dup ENST00000355624.3 c.1017_1018dup p.Ser340PhefsX7 frameshift_variant damaging Li7 Truncating Mutation PFKP chr10 3143641 3143641 C T g.3143641C>T ENST00000381125.4 c.349C>T p.R117X stop_gained damaging Li7 Truncating Mutation UNC5B chr10 73046626 73046626 G A g.73046626G>A ENST00000335350.6 c.733G>A p.Val245Met (Splice) missense_variant,splice_region_variant probably damaging Li7 Truncating Mutation ZSWIM8 chr10 75561534 75561534 A T g.75561534A>T NM_001242488.1 c.5679A>T p.X893TyrextX7 stop_lost NA Li7 Truncating Mutation LRIT2 chr10 85984214 85984214 G T g.85984214G>T ENST00000372113.4 c.767C>A p.Ser256X stop_gained damaging Li7 Truncating Mutation ESAM chr11 124624658 124624658 A T g.124624658A>T ENST00000278927.5 c.609T>A p.Asp203Glu (Splice) missense_variant,splice_region_variant probably damaging Li7 Truncating Mutation OR10W1 chr11 58034649 58034649 C - g.58034649del ENST00000395079.2 c.682del p.Ala228ProfsX56 frameshift_variant damaging Li7 Truncating Mutation ING4 chr12 6761478 6761478 G A g.6761478G>A ENST00000396807.4 c.607C>T p.Gln203X stop_gained damaging Li7 Truncating Mutation MYRFL chr12 70274071 70274071 G A g.70274071G>A ENST00000547771.2 c.555G>A p.P185P (Splice) splice_region_variant,synonymous_variant damaging Li7 Truncating Mutation COL4A1 chr13 110859209 110859209 G A g.110859209G>A ENST00000375820.4 c.807+3C>T p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation RPGRIP1 chr14 21798427 21798427 G - g.21798428del ENST00000206660.6 c.3120del p.Trp1040X frameshift_variant damaging Li7 Truncating Mutation ERO1L chr14 53124727 53124727 C A g.53124727C>A ENST00000395686.3 c.716G>T p.Gly239Val (Splice) missense_variant,splice_region_variant probably damaging Li7 Truncating Mutation UBL7 chr15 74753048 74753048 T A g.74753048T>A NM_001286741.1 c.52A>T p.Arg18X stop_gained damaging Li7 Truncating Mutation RCN2 chr15 77224703 77224703 A G g.77224703A>G ENST00000320963.5 c.146A>G p.Glu49Gly (Splice) missense_variant,splice_region_variant damaging Li7 Truncating Mutation CHD2 chr15 93563489 93563489 G T g.93563489G>T ENST00000394196.4 c.5153+1G>T p.R1718_splice splice_donor_variant damaging Li7 Truncating Mutation TSNAXIP1 chr16 67861896 67861896 G - g.67861897del ENST00000388833.3 c.*1del p.X659fs frameshift_variant,stop_lost damaging Li7 Truncating Mutation KRT26 chr17 38927923 38927923 A G g.38927923A>G ENST00000335552.4 c.441+2T>C p.? splice_donor_variant damaging Li7 Truncating Mutation DBF4B chr17 42808334 42808334 T A g.42808334T>A ENST00000315005.3 c.419T>A p.Val140Glu (Splice) missense_variant,splice_region_variant probably damaging Li7 Truncating Mutation SLC9A3R1 chr17 72758152 72758152 G A g.72758152G>A ENST00000262613.5 c.443G>A p.Arg148His (Splice) missense_variant,splice_region_variant damaging Li7 Truncating Mutation CDH7 chr18 63529898 63529898 C A g.63529898C>A ENST00000323011.3 c.1613-4C>A p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation CBLC chr19 45281399 45281399 G - g.45281403del ENST00000270279.3 c.215del p.Gly72ValfsX202 frameshift_variant damaging Li7 Truncating Mutation ZNF584 chr19 58921307 58921307 G T g.58921307G>T ENST00000306910.4 c.19-1G>T p.A7_splice splice_acceptor_variant damaging Li7 Truncating Mutation STXBP2 chr19 7712401 7712401 A G g.7712401A>G ENST00000221283.5 c.1696+4A>G p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation ZSWIM2 chr2 187693360 187693375 TTTGATAGATGAATGA - g.187693360_187693375del ENST00000295131.2 c.1238_1253del p.Ile413SerfsX14 frameshift_variant damaging Li7 Truncating Mutation ALS2CR11 chr2 202357135 202357135 G T g.202357135G>T ENST00000439140.1 c.3929C>A p.Ser1310X stop_gained damaging Li7 Truncating Mutation FARP2 chr2 242352722 242352722 C T g.242352722C>T ENST00000264042.3 c.509C>T p.Ser170Leu (Splice) missense_variant,splice_region_variant possibly damaging Li7 Truncating Mutation C2orf70 chr2 26785483 26785484 - G g.26785484dup ENST00000329615.3 c.4dup p.Ala2GlyfsX197 frameshift_variant damaging Li7 Truncating Mutation ABCG5 chr2 44051574 44051575 - A g.44051574dup ENST00000260645.1 c.905-3dup p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation AHSA2 chr2 61413823 61413824 - CTAT g.61413823_61413824insCTAT ENST00000357022.2 c.316_317insCTAT p.Leu106ProfsX6 frameshift_variant damaging Li7 Truncating Mutation EDN3 chr20 57897472 57897472 G T g.57897472G>T ENST00000311585.7 c.588G>T p.Lys196Asn missense_variant possibly damaging Li7 Truncating Mutation C21orf59 chr21 33982316 33982316 C A g.33982316C>A ENST00000290155.3 c.140-1G>T p.E47_splice splice_acceptor_variant damaging Li7 Truncating Mutation CCT8L2 chr22 17072732 17072732 T - g.17072732del ENST00000359963.3 c.709del p.Ser237ValfsX31 frameshift_variant damaging Li7 Truncating Mutation HIRA chr22 19394718 19394718 C T g.19394718C>T ENST00000263208.5 c.291G>A p.Trp97X stop_gained damaging Li7 Truncating Mutation ARSA chr22 51064578 51064578 T C g.51064578T>C ENST00000216124.5 c.979+4A>G p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation NFKBIZ chr3 101574240 101574240 C T g.101574240C>T ENST00000326172.5 c.1592C>T p.Ala531Val (Splice) missense_variant,splice_region_variant probably damaging Li7 Truncating Mutation SUCNR1 chr3 151598706 151598709 GTAT - g.151598706_151598709del ENST00000362032.5 c.375_378del p.Lys125AsnfsX16 frameshift_variant damaging Li7 Truncating Mutation SENP2 chr3 185341870 185341870 C T g.185341870C>T ENST00000296257.5 c.1611C>T p.H537H (Splice) splice_region_variant,synonymous_variant damaging Li7 Truncating Mutation GFPT2 chr5 179745960 179745960 G C g.179745960G>C ENST00000253778.8 c.795-4C>G p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation C7 chr5 40934454 40934455 - G g.40934456dup ENST00000313164.9 c.168dup p.Gln57AlafsX13 frameshift_variant damaging Li7 Truncating Mutation ECT2L chr6 139167727 139167727 G A g.139167727G>A ENST00000367682.2 c.816G>A p.Trp272X stop_gained damaging Li7 Truncating Mutation CLDN20 chr6 155596855 155596855 T C g.155596855T>C ENST00000367165.3 c.2T>C p.Met1? start_lost probably damaging Li7 Truncating Mutation NUP153 chr6 17633078 17633078 A G g.17633078A>G ENST00000262077.2 c.2465-3T>C p.? splice_region_variant,intron_variant damaging Li7 Truncating Mutation TAS2R4 chr7 141478503 141478503 C G g.141478503C>G ENST00000247881.2 c.215C>G p.Ser72X stop_gained damaging Li7 Truncating Mutation NUB1 chr7 151064959 151064959 A - g.151064961del ENST00000355851.4 c.1002del p.Glu335ArgfsX6 frameshift_variant damaging Li7 Truncating Mutation SNX8 chr7 2296518 2296518 C - g.2296518del ENST00000222990.3 c.1275del p.His426ThrfsX4 frameshift_variant damaging Li7 Truncating Mutation FGL2 chr7 76828658 76828659 - G g.76828658dup ENST00000248598.5 c.453dup p.Asn152GlnfsX23 frameshift_variant damaging Li7 Truncating Mutation SLC30A8 chr8 118175673 118175673 A T g.118175673A>T ENST00000456015.2 c.733A>T p.Lys245X stop_gained damaging Li7 Truncating Mutation NSMCE2 chr8 126194474 126194474 C T g.126194474C>T ENST00000287437.3 c.394C>T p.Gln132X stop_gained damaging Li7 Truncating Mutation ZC3H3 chr8 144522226 144522227 - G g.144522226dup ENST00000262577.5 c.2800dup p.Leu934ProfsX70 frameshift_variant damaging Li7 Truncating Mutation NBN chr8 90949282 90949282 C A g.90949282C>A ENST00000265433.3 c.2206G>T p.Glu736X stop_gained damaging Li7 Truncating Mutation SPTAN1 chr9 131365823 131365823 C A g.131365823C>A ENST00000358161.5 c.3581C>A p.Ser1194Tyr (Splice) missense_variant,splice_region_variant possibly damaging Li7 Truncating Mutation C8G chr9 139839784 139839784 T - g.139839784del ENST00000224181.3 c.12del p.Thr6LeufsX5 frameshift_variant damaging Li7 Truncating Mutation ACSL4 chrX 108906500 108906501 - T g.108906500dup ENST00000340800.2 c.1645dup p.Arg549LysfsX7 frameshift_variant damaging Li7 Truncating Mutation IRAK1 chrX 153278707 153278707 G A g.153278707G>A ENST00000369980.3 c.1717C>T p.Gln573X stop_gained damaging Li7 Truncating Mutation PHKA1 chrX 71875975 71875975 C A g.71875975C>A ENST00000339490.3 c.1036G>T p.Glu346X stop_gained damaging Huh1 Truncating Mutation CELSR2 chr1 109807487 109807487 C T g.109807487C>T ENST00000271332.3 c.5465-3C>T p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation PIFO chr1 111891168 111891168 A - g.111891170del ENST00000369738.4 c.291del p.Val98X frameshift_variant damaging Huh1 Truncating Mutation PPAP2B chr1 56990126 56990126 A - g.56990126del ENST00000371250.3 c.398del p.Phe133SerfsX19 frameshift_variant damaging Huh1 Truncating Mutation COX15 chr10 101487231 101487232 - CTTTCTGTTATGTAACAGATTTTTACCATCTGCTTCATTTCCCTCAACTCACTACCATTTC g.101487231_101487232ins61 ENST00000016171.5 c.361_362insGAAATGGTAGTGAGTTGAGGGAAATGAAGCAGATGGTAAAAATCTGTTACATAACAGAAAG p.Phe121X stop_gained,frameshift_variant damaging Huh1 Truncating Mutation SNX19 chr11 130750556 130750556 C A g.130750556C>A ENST00000265909.4 c.2719G>T p.Glu907X stop_gained damaging Huh1 Truncating Mutation ARHGAP1 chr11 46717521 46717521 C T g.46717521C>T ENST00000311956.4 c.133+4G>A p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation TRIM51 chr11 55653610 55653610 A - g.55653617del ENST00000449290.2 c.430del p.Met144CysfsX15 frameshift_variant damaging Huh1 Truncating Mutation C11orf82 chr11 82643564 82643564 T A g.82643564T>A ENST00000430323.2 c.1184T>A p.Leu395X stop_gained damaging Huh1 Truncating Mutation GRM5 chr11 88300964 88300964 G C g.88300964G>C ENST00000305432.5 c.1887C>G p.Tyr629X stop_gained damaging Huh1 Truncating Mutation C11orf16 chr11 8942865 8942865 A G g.8942865A>G ENST00000326053.5 c.1402T>C p.X68GlnextX12 stop_lost damaging Huh1 Truncating Mutation CACNA2D4 chr12 1983766 1983766 T G g.1983766T>G ENST00000382722.5 c.1878+4A>C p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation SOAT2 chr12 53509299 53509299 G - g.53509302del ENST00000301466.3 c.572del p.Gly191AlafsX14 frameshift_variant damaging Huh1 Truncating Mutation NANOGNB chr12 7926427 7926427 C T g.7926427C>T ENST00000382119.1 c.547C>T p.Arg183X stop_gained damaging Huh1 Truncating Mutation NBEA chr13 35672435 35672435 G T g.35672435G>T ENST00000310336.4 c.1573G>T p.Ala525Ser (Splice) missense_variant,splice_region_variant damaging Huh1 Truncating Mutation KIAA0247 chr14 70125403 70125404 - ACCCTGCT g.70125403_70125404insACCCTGCT ENST00000342745.4 c.94_95insACCCTGCT p.Thr32AsnfsX36 frameshift_variant damaging Huh1 Truncating Mutation STARD9 chr15 42986750 42986751 - C g.42986750dup ENST00000290607.7 c.12789dup p.Arg4264GlnfsX6 frameshift_variant damaging Huh1 Truncating Mutation VPS13C chr15 62232843 62232843 T C g.62232843T>C ENST00000261517.5 c.5601+3A>G p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation TTLL13 chr15 90799091 90799092 - C g.90799091_90799092insC ENST00000339615.5 c.526dup p.Arg176ProfsX65 frameshift_variant damaging Huh1 Truncating Mutation AXIN1 chr16 364656 364668 GTTGACTGGCTCC - g.364656_364668del ENST00000262320.3 c.894_906del p.Glu299ProfsX111 frameshift_variant damaging Huh1 Truncating Mutation PRMT7 chr16 68358584 68358584 A C g.68358584A>C ENST00000339507.5 c.133-2A>C p.N45_splice splice_acceptor_variant damaging Huh1 Truncating Mutation RABEP1 chr17 5211988 5211988 G C g.5211988G>C ENST00000262477.6 c.35-1G>C p.V12_splice splice_acceptor_variant damaging Huh1 Truncating Mutation KLK4 chr19 51410344 51410344 T C g.51410344T>C ENST00000324041.1 c.613-2A>G p.? splice_acceptor_variant damaging Huh1 Truncating Mutation C2orf43 chr2 20939751 20939751 A - g.20939751del ENST00000237822.3 c.683del p.Ile228AsnfsX2 frameshift_variant damaging Huh1 Truncating Mutation RNPEPL1 chr2 241514916 241514916 C T g.241514916C>T NM_018226.4 c.1402-3C>T p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation MYH15 chr3 108147590 108147590 C - g.108147590del ENST00000273353.3 c.3511del p.Ala1171LeufsX5 frameshift_variant damaging Huh1 Truncating Mutation UHRF1 chr19 4950970 4950970 G C g.4950970G>C NM_013282.3 c.1819G>C p.Gly607Arg missense_variant probably damaging Huh1 Truncating Mutation ABCG2 chr4 89018737 89018737 G - g.89018737del ENST00000237612.3 c.1515del p.Phe506SerfsX4 frameshift_variant damaging Huh1 Truncating Mutation RXFP3 chr5 33937008 33937008 G T g.33937008G>T ENST00000330120.3 c.163G>T p.Glu55X stop_gained damaging Huh1 Truncating Mutation GPR116 chr6 46825862 46825862 T A g.46825862T>A ENST00000265417.7 c.3774+4A>T p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation IGHV1OR21-1 chr21 10862804 10862804 G C g.10862804G>C ENST00000302092.5 c.100G>C p.Gly34Arg missense_variant NA Huh1 Truncating Mutation LFNG chr7 2552882 2552883 - GATG g.2552882_2552883insGATG ENST00000402506.1 c.139_140insGATG p.Asp47GlyfsX2 stop_gained,frameshift_variant damaging Huh1 Truncating Mutation PRKDC chr8 48715864 48715864 T C g.48715864T>C NM_001081640.1 c.9921+3A>G p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation KIAA0020 chr9 2812266 2812266 G A g.2812266G>A ENST00000397885.2 c.1366C>T p.Arg456X stop_gained damaging Huh1 Truncating Mutation PRUNE2 chr9 79244208 79244208 T C g.79244208T>C ENST00000376718.3 c.9051-2A>G p.S3017_splice splice_acceptor_variant damaging Huh1 Truncating Mutation ARHGAP6 chrX 11215120 11215120 T C g.11215120T>C ENST00000337414.4 c.749-4A>G p.? splice_region_variant,intron_variant damaging Huh1 Truncating Mutation DMD chrX 32490426 32490426 A C g.32490426A>C ENST00000357033.4 c.2804T>G p.Ile935Ser (Splice) missense_variant,splice_region_variant damaging JHH1 Truncating Mutation DENND2C chr1 115165724 115165724 A G g.115165724A>G ENST00000393274.1 c.944-4T>C p.? splice_region_variant,intron_variant damaging JHH1 Truncating Mutation PANK4 chr1 2444323 2444323 C T g.2444323C>T ENST00000378466.3 c.1727+4G>A p.? splice_region_variant,intron_variant damaging JHH1 Truncating Mutation C11orf21 chr11 2320866 2320867 - G g.2320866dup ENST00000456145.2 c.357dup p.Thr120HisfsX4 frameshift_variant damaging JHH1 Truncating Mutation NABP2 chr12 56620043 56620043 C T g.56620043C>T ENST00000267023.4 c.371C>T p.Ala124Val (Splice) missense_variant,splice_region_variant damaging JHH1 Truncating Mutation RASL12 chr15 65347293 65347293 G A g.65347293G>A ENST00000220062.4 c.745C>T p.Gln249X stop_gained damaging JHH1 Truncating Mutation SCAMP2 chr15 75146924 75146924 C A g.75146924C>A ENST00000268099.9 c.124G>T p.Glu42X stop_gained,splice_region_variant damaging JHH1 Truncating Mutation CREBBP chr16 3779794 3779794 C A g.3779794C>A ENST00000262367.5 c.5254G>T p.Glu1752X stop_gained damaging JHH1 Truncating Mutation PTGES3L chr17 41121206 41121206 G - g.41121206del ENST00000453594.1 c.463-3del p.? splice_region_variant,intron_variant damaging JHH1 Truncating Mutation LRRC46 chr17 45909366 45909367 - GT g.45909366_45909367insGT ENST00000269025.4 c.10+1_10+2insGT p.G4_splice splice_donor_variant damaging JHH1 Truncating Mutation KIR2DS4 chr19 55358744 55358744 G C g.55358744G>C ENST00000339924.8 c.798+1G>C p.? splice_donor_variant damaging JHH1 Truncating Mutation COBLL1 chr2 165542529 165542529 G - g.165542529del ENST00000342193.4 c.3428del p.Ser1143X frameshift_variant damaging JHH1 Truncating Mutation NEU2 chr2 233899441 233899441 C T g.233899441C>T ENST00000233840.3 c.817C>T p.Gln273X stop_gained damaging JHH1 Truncating Mutation GPR75 chr2 54081275 54081278 AGAG - g.54081275_54081278del ENST00000394705.2 c.616_619del p.Leu206MetfsX18 frameshift_variant damaging JHH1 Truncating Mutation NEK11 chr3 130947535 130947535 A G g.130947535A>G ENST00000383366.4 c.1560+3A>G p.? splice_region_variant,intron_variant damaging JHH1 Truncating Mutation PKD1L3 chr16 72001135 72001135 C T g.72001135C>T NM_181536.1 c.2366G>A p.Arg789Gln missense_variant probably damaging JHH1 Truncating Mutation PKD1L3 chr16 72007329 72007329 T C g.72007329T>C NM_181536.1 c.1847A>G p.Gln616Arg missense_variant benign JHH1 Truncating Mutation WDR6 chr3 49044963 49044963 G T g.49044963G>T ENST00000395474.3 c.189G>T p.A63A (Splice) splice_region_variant,synonymous_variant damaging JHH1 Truncating Mutation ANAPC4 chr4 25408449 25408449 A C g.25408449A>C ENST00000315368.3 c.1318-2A>C p.M440_splice splice_acceptor_variant damaging JHH1 Truncating Mutation HOPX chr4 57516947 57516947 C T g.57516947C>T ENST00000554144.1 c.230G>A p.Trp77X stop_gained damaging JHH1 Truncating Mutation SMIM3 chr5 150175003 150175003 A G g.150175003A>G ENST00000526627.1 c.1A>G p.Met1? start_lost NA JHH1 Truncating Mutation NPSR1 chr7 34884594 34884594 G C g.34884594G>C ENST00000359791.1 c.844G>C p.Ala282Pro (Splice) missense_variant,splice_region_variant probably damaging JHH1 Truncating Mutation ZAN chr7 100367597 100367597 G A g.100367597G>A ENST00000348028.3 c.5248G>A p.Gly1750Arg (Splice) missense_variant,splice_region_variant probably damaging JHH1 Truncating Mutation FGL1 chr8 17726471 17726472 - T g.17726471dup ENST00000381840.2 c.545dup p.Asn182LysfsX2 frameshift_variant damaging JHH1 Truncating Mutation OR13C5 chr9 107360917 107360917 T - g.107360917del ENST00000374779.2 c.778del p.Met260X frameshift_variant damaging JHH2 Truncating Mutation TNN chr1 175048491 175048498 CCACGGGA - g.175048493_175048500del ENST00000239462.4 c.434_441del p.His145LeufsX43 frameshift_variant damaging JHH2 Truncating Mutation AKR1A1 chr1 46034599 46034599 G A g.46034599G>A ENST00000351829.4 c.753G>A p.R251R (Splice) splice_region_variant,synonymous_variant damaging JHH2 Truncating Mutation TECTA chr11 120998825 120998825 C A g.120998825C>A ENST00000264037.2 c.2139C>A p.Cys713X stop_gained damaging JHH2 Truncating Mutation PCDHB9 chr5 140567509 140567509 A G g.140567509A>G NM_019119.3 c.617A>G p.Glu206Gly missense_variant benign JHH2 Truncating Mutation PDS5B chr13 33268439 33268439 A T g.33268439A>T ENST00000315596.10 c.1549A>T p.Lys517X stop_gained,splice_region_variant damaging JHH2 Truncating Mutation NBEA chr13 36167584 36167584 G T g.36167584G>T ENST00000310336.4 c.7296G>T p.Lys2432Asn (Splice) missense_variant,splice_region_variant probably damaging JHH2 Truncating Mutation IPO4 chr14 24652453 24652453 C T g.24652453C>T ENST00000354464.6 c.2227+3G>A p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation SLC24A4 chr14 92908520 92908520 A G g.92908520A>G ENST00000531433.1 c.478+3A>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation CHRNA5 chr15 78873257 78873261 AAAAT - g.78873261_78873265del ENST00000299565.5 c.215_219del p.Ile72AsnfsX15 frameshift_variant damaging JHH2 Truncating Mutation WDR93 chr15 90274670 90274670 C G g.90274670C>G ENST00000268130.7 c.1211-4C>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation ZNF710 chr15 90610830 90610831 - AAAGATGGAAGTTTTAAAAAAATCACTCCAGGCCAGGCGCGGTGGCTCAG g.90610830_90610831ins50 ENST00000268154.4 c.461_462insAAAGATGGAAGTTTTAAAAAAATCACTCCAGGCCAGGCGCGGTGGCTCAG p.Ser154ArgfsX22 frameshift_variant damaging JHH2 Truncating Mutation DNASE1L2 chr16 2287042 2287045 CTGG - g.2287048_2287051del ENST00000320700.5 c.154_157del p.Gly52MetfsX35 frameshift_variant damaging JHH2 Truncating Mutation MYH13 chr17 10204903 10204903 G A g.10204903G>A ENST00000252172.4 c.5785C>T p.Arg1929X stop_gained damaging JHH2 Truncating Mutation DSG3 chr18 29038996 29038996 A G g.29038996A>G ENST00000257189.4 c.373A>G p.Ile125Val (Splice) missense_variant,splice_region_variant possibly damaging JHH2 Truncating Mutation ZNF85 chr19 21116937 21116937 C A g.21116937C>A ENST00000300540.3 c.111C>A p.Tyr37X stop_gained damaging JHH2 Truncating Mutation DOT1L chr19 2194577 2194577 G - g.2194577del ENST00000398665.3 c.651+1del p.T217_splice splice_donor_variant damaging JHH2 Truncating Mutation ANKRD27 chr19 33106689 33106689 G T g.33106689G>T ENST00000306065.4 c.2053-3C>A p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation TBC1D17 chr19 50387940 50387940 G T g.50387940G>T ENST00000221543.5 c.1369G>T p.Glu457X stop_gained damaging JHH2 Truncating Mutation ZNF543 chr19 57835180 57835180 A G g.57835180A>G ENST00000321545.4 c.145+4A>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation ZNF544 chr19 58774041 58774042 - GTAG g.58774041_58774042insGTAG ENST00000269829.4 c.2069_2070insGTAG p.Cys690TrpfsX2 stop_gained,frameshift_variant damaging JHH2 Truncating Mutation MARCH7 chr2 160599677 160599677 C - g.160599677del ENST00000259050.4 c.259del p.His87MetfsX25 frameshift_variant damaging JHH2 Truncating Mutation DNAJC10 chr2 183640150 183640150 A G g.183640150A>G ENST00000264065.7 c.2370+3A>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation GPBAR1 chr2 219127843 219127843 G A g.219127843G>A ENST00000479077.1 c.396G>A p.Trp132X stop_gained damaging JHH2 Truncating Mutation SPEG chr2 220331893 220331893 C T g.220331893C>T ENST00000312358.7 c.2882-3C>T p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation RBM44 chr2 238730385 238730385 G T g.238730385G>T ENST00000316997.4 c.2124-1G>T p.V708_splice splice_acceptor_variant damaging JHH2 Truncating Mutation PKDCC chr2 42284361 42284361 A G g.42284361A>G ENST00000294964.5 c.1223A>G p.Glu408Gly (Splice) missense_variant,splice_region_variant possibly damaging JHH2 Truncating Mutation TTLL9 chr20 30512852 30512852 G A g.30512852G>A ENST00000375938.4 c.705G>A p.S235S (Splice) splice_region_variant,synonymous_variant damaging JHH2 Truncating Mutation SLC4A11 chr20 3211791 3211791 G A g.3211791G>A ENST00000539553.2 c.1042+4C>T p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation CTCFL chr20 56075469 56075469 G A g.56075469G>A ENST00000608440.1 c.1841-3C>T p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation COL20A1 chr20 61945091 61945091 C G g.61945091C>G ENST00000326996.6 c.2210-4C>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation PIWIL3 chr22 25145369 25145369 A G g.25145369A>G ENST00000332271.5 c.1334+2T>C p.D445_splice splice_donor_variant damaging JHH2 Truncating Mutation MUC4 chr3 195487992 195487992 T C g.195487992T>C ENST00000346145.4 c.1907-4A>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation ZNF589 chr3 48310245 48310245 C - g.48310245del ENST00000354698.3 c.1064del p.Thr355ArgfsX16 frameshift_variant damaging JHH2 Truncating Mutation SEC24D chr4 119736180 119736180 T G g.119736180T>G ENST00000280551.6 c.801+3A>C p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation TLR3 chr4 187003899 187003899 G A g.187003899G>A ENST00000296795.3 c.1059G>A p.Trp353X stop_gained damaging JHH2 Truncating Mutation PPP2R2C chr4 6335462 6335462 T C g.6335462T>C ENST00000335585.5 c.791-4A>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation SLC27A6 chr5 128362822 128362822 G T g.128362822G>T ENST00000262462.4 c.1256-4G>T p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation CYFIP2 chr5 156816422 156816422 G T g.156816422G>T ENST00000347377.6 c.3433G>T p.Glu1145X stop_gained damaging JHH2 Truncating Mutation NIPBL chr5 37064654 37064654 C A g.37064654C>A ENST00000282516.8 c.8075C>A p.Ser2692X stop_gained damaging JHH2 Truncating Mutation EGFLAM chr5 38431394 38431394 A C g.38431394A>C ENST00000322350.5 c.2166+4A>C p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation ARRDC3 chr5 90678685 90678685 G T g.90678685G>T ENST00000265138.3 c.225C>A p.Tyr75X stop_gained damaging JHH2 Truncating Mutation CAST chr5 96100936 96100943 AGACCTCG - g.96100937_96100944del ENST00000395812.2 c.1822_1829del p.Asp608X frameshift_variant damaging JHH2 Truncating Mutation SERAC1 chr6 158551507 158551507 C T g.158551507C>T ENST00000367101.1 c.750G>A p.Trp250X stop_gained damaging JHH2 Truncating Mutation CCDC136 chr7 128446915 128446915 A G g.128446915A>G ENST00000297788.4 c.1419+3A>G p.? splice_region_variant,intron_variant damaging JHH2 Truncating Mutation EPHA1 chr7 143097122 143097126 TCTGG - g.143097122_143097126del ENST00000275815.3 c.453_457del p.Asp151GlufsX54 frameshift_variant damaging JHH2 Truncating Mutation C7orf31 chr7 25175850 25175851 - A g.25175850dup ENST00000283905.3 c.1514dup p.Leu505PhefsX3 frameshift_variant damaging JHH2 Truncating Mutation ENPP2 chr8 120599284 120599284 C T g.120599284C>T ENST00000075322.6 c.1239G>A p.T413T (Splice) splice_region_variant,synonymous_variant damaging JHH2 Truncating Mutation EPPK1 chr8 144940775 144940776 - ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC g.144940775_144940776insACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC ENST00000525985.1 c.6646_6647insGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT p.Val2216GlyfsX231 frameshift_variant damaging JHH2 Truncating Mutation WRN chr8 30949374 30949374 G T g.30949374G>T ENST00000298139.5 c.1858G>T p.Gly620X stop_gained damaging JHH2 Truncating Mutation GNE chr9 36222999 36222999 C T g.36222999C>T ENST00000396594.3 c.1505-4G>A p.? splice_region_variant,intron_variant damaging JHH4 Truncating Mutation HNRNPCL2 chr1 13183352 13183353 - T g.13183352dup NM_001136561.2 c.521dup p.Leu175AlafsX5 frameshift_variant damaging JHH4 Truncating Mutation PEAR1 chr1 156883641 156883641 T C g.156883641T>C ENST00000292357.7 c.2714-3T>C p.? splice_region_variant,intron_variant damaging JHH4 Truncating Mutation NRD1 chr1 52305894 52305894 G T g.52305894G>T ENST00000352171.7 c.630+4C>A p.? splice_region_variant,intron_variant damaging JHH4 Truncating Mutation ADAMTS14 chr10 72520504 72520504 G A g.72520504G>A ENST00000373207.1 c.3567G>A p.Trp1189X stop_gained damaging JHH4 Truncating Mutation BSCL2 chr11 62462040 62462040 C G g.62462040C>G ENST00000278893.7 c.438G>C p.S146S (Splice) splice_region_variant,synonymous_variant damaging JHH4 Truncating Mutation WDR74 chr11 62603167 62603167 G A g.62603167G>A ENST00000278856.4 c.516C>T p.N172N (Splice) splice_region_variant,synonymous_variant damaging JHH4 Truncating Mutation RBM19 chr12 114261125 114261125 C T g.114261125C>T ENST00000261741.5 c.2787G>A p.E929E (Splice) splice_region_variant,synonymous_variant damaging JHH4 Truncating Mutation TCTN2 chr12 124175104 124175104 C T g.124175104C>T ENST00000303372.5 c.916C>T p.Gln306X stop_gained damaging JHH4 Truncating Mutation MUC19 chr12 40868943 40868943 G - g.40868943del ENST00000454784.4 c.4247del p.S1416fs frameshift_variant damaging JHH4 Truncating Mutation SLC38A4 chr12 47162094 47162094 C T g.47162094C>T ENST00000266579.4 c.1541G>A p.Gly514Glu (Splice) missense_variant,splice_region_variant probably damaging JHH4 Truncating Mutation CCDC77 chr12 527789 527789 C T g.527789C>T ENST00000239830.4 c.400C>T p.Arg134X stop_gained damaging JHH4 Truncating Mutation SLC8A3 chr14 70522512 70522512 C T g.70522512C>T ENST00000357887.3 c.1909+1G>A p.D636_splice splice_donor_variant damaging JHH4 Truncating Mutation DLL4 chr15 41228857 41228857 C T g.41228857C>T ENST00000249749.5 c.1672C>T p.Arg558X stop_gained damaging JHH4 Truncating Mutation STOML1 chr15 74276361 74276361 C - g.74276361del ENST00000316900.5 c.1114del p.Ala372ProfsX3 frameshift_variant damaging JHH4 Truncating Mutation ABCA10 chr17 67170453 67170454 - T g.67170453dup ENST00000269081.4 c.3131dup p.Asn1044LysfsX2 frameshift_variant damaging JHH4 Truncating Mutation ATP8B3 chr19 1789570 1789570 C - g.1789570del ENST00000310127.6 c.2635del p.Ala879HisfsX36 frameshift_variant damaging JHH4 Truncating Mutation TM6SF2 chr19 19378442 19378442 G T g.19378442G>T ENST00000389363.4 c.792C>A p.Tyr264X stop_gained damaging JHH4 Truncating Mutation SIGLEC9 chr19 51628571 51628571 G - g.51628571del ENST00000250360.3 c.340del p.Ala114ArgfsX13 frameshift_variant damaging JHH4 Truncating Mutation GREB1 chr2 11758873 11758873 G A g.11758873G>A ENST00000234142.5 c.3872G>A p.Trp1291X stop_gained damaging JHH4 Truncating Mutation ACVR2A chr2 148654048 148654048 T A g.148654048T>A ENST00000241416.7 c.234T>A p.Cys78X stop_gained damaging JHH4 Truncating Mutation TTC30A chr2 178482635 178482636 TC - g.178482635_178482636del ENST00000355689.5 c.794_795del p.Arg265LysfsX3 frameshift_variant damaging JHH4 Truncating Mutation ANKAR chr2 190592989 190592989 A G g.190592989A>G ENST00000313581.4 c.2878-4A>G p.? splice_region_variant,intron_variant damaging JHH4 Truncating Mutation XRN2 chr20 21338434 21338434 A G g.21338434A>G ENST00000377191.3 c.2255+4A>G p.? splice_region_variant,intron_variant damaging JHH4 Truncating Mutation RPN1 chr3 128339436 128339436 C T g.128339436C>T ENST00000296255.3 c.1642G>A p.Val548Met (Splice) missense_variant,splice_region_variant probably damaging JHH4 Truncating Mutation PKD1L2 chr16 81181870 81181870 G T g.81181870G>T ENST00000525539.1 c.4846C>A p.Gln1616Lys missense_variant benign JHH4 Truncating Mutation PKD1L2 chr16 81183346 81183346 T C g.81183346T>C ENST00000525539.1 c.4702A>G p.Ile1568Val missense_variant probably damaging JHH4 Truncating Mutation ARHGEF3 chr3 56787533 56787534 - T g.56787533dup ENST00000296315.3 c.437dup p.Ala147GlyfsX4 frameshift_variant damaging JHH4 Truncating Mutation CDH6 chr5 31297396 31297396 G A g.31297396G>A ENST00000265071.2 c.524G>A p.Gly175Asp (Splice) missense_variant,splice_region_variant probably damaging JHH4 Truncating Mutation MAST4 chr5 66458971 66458971 A C g.66458971A>C ENST00000403625.2 c.3968-4A>C p.? splice_region_variant,intron_variant damaging JHH4 Truncating Mutation ZNF292 chr6 87971328 87971328 C T g.87971328C>T ENST00000369577.3 c.7981C>T p.Gln2661X stop_gained damaging JHH4 Truncating Mutation RP1L1 chr8 10480296 10480297 - G g.10480296dup ENST00000382483.3 c.416dup p.Gly140ArgfsX10 frameshift_variant damaging JHH4 Truncating Mutation SPATA31E1 chr9 90500486 90500486 C T g.90500486C>T ENST00000325643.5 c.1084C>T p.Gln362X stop_gained damaging JHH5 Truncating Mutation COL24A1 chr1 86591464 86591464 A T g.86591464A>T ENST00000370571.2 c.555T>A p.Tyr185X stop_gained damaging JHH5 Truncating Mutation MGEA5 chr10 103563493 103563493 C T g.103563493C>T ENST00000357797.5 c.1035G>A p.Met345Ile (Splice) missense_variant,splice_region_variant possibly damaging JHH5 Truncating Mutation ITGA8 chr10 15761562 15761562 G T g.15761562G>T ENST00000378076.3 c.209C>A p.Thr70Lys (Splice) missense_variant,splice_region_variant damaging JHH5 Truncating Mutation CTR9 chr11 10800515 10800515 G T g.10800515G>T ENST00000361367.2 c.3385G>T p.Glu1129X stop_gained damaging JHH5 Truncating Mutation MUC2 chr11 1093681 1093681 G T g.1093681G>T ENST00000441003.2 c.5500G>T p.Gly1834Trp missense_variant possibly damaging JHH5 Truncating Mutation SCN4B chr11 118014545 118014545 T A g.118014545T>A NM_001142349.1 c.133+3A>T p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation NUCB2 chr11 17323289 17323289 A G g.17323289A>G ENST00000323688.6 c.253-2A>G p.S85_splice splice_acceptor_variant damaging JHH5 Truncating Mutation FANCF chr11 22647355 22647355 A G g.22647355A>G ENST00000327470.3 c.2T>C p.Met1? start_lost probably damaging JHH5 Truncating Mutation AMBRA1 chr11 46419002 46419002 A G g.46419002A>G ENST00000314845.3 c.3625T>C p.X1209GlnextX22 stop_lost damaging JHH5 Truncating Mutation HRASLS2 chr11 63325955 63325956 - A g.63325955dup ENST00000255695.1 c.296dup p.Leu99PhefsX13 frameshift_variant damaging JHH5 Truncating Mutation CCDC92 chr12 124427300 124427300 C A g.124427300C>A ENST00000238156.3 c.214G>T p.Glu72X stop_gained damaging JHH5 Truncating Mutation DNAJC14 chr12 56215931 56215932 AG - g.56215931_56215932del ENST00000317269.3 c.1938_1939del p.Leu647GlufsX31 frameshift_variant damaging JHH5 Truncating Mutation LRIG3 chr12 59266527 59266527 G A g.59266527G>A ENST00000320743.3 c.3187C>T p.Gln1063X stop_gained damaging JHH5 Truncating Mutation CAPS2 chr12 75715209 75715209 G A g.75715209G>A ENST00000409445.3 c.496C>T p.Gln166X stop_gained damaging JHH5 Truncating Mutation HEATR5A chr14 31774184 31774185 - TAAT g.31774184_31774185insTAAT ENST00000543095.2 c.5166_5167insTTAA p.Glu1723LeufsX6 frameshift_variant damaging JHH5 Truncating Mutation SIX4 chr14 61180924 61180925 - A g.61180924dup ENST00000216513.4 c.1550-3dup p.? intron_variant damaging JHH5 Truncating Mutation PLA2G4D chr15 42364591 42364591 C T g.42364591C>T ENST00000290472.3 c.1318-1G>A p.V440_splice splice_acceptor_variant damaging JHH5 Truncating Mutation SERINC4 chr15 44089415 44089416 - AG g.44089415_44089416insAG ENST00000299969.6 c.771_772insCT p.M258fs frameshift_variant damaging JHH5 Truncating Mutation SLC27A2 chr15 50518182 50518182 T C g.50518182T>C ENST00000380902.4 c.1009-3T>C p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation IGDCC3 chr15 65622889 65622889 G A g.65622889G>A ENST00000327987.4 c.1752C>T p.L584L (Splice) splice_region_variant,synonymous_variant damaging JHH5 Truncating Mutation MAP2K1 chr15 66777530 66777530 G T g.66777530G>T ENST00000307102.5 c.895+1G>T p.S299_splice splice_donor_variant damaging JHH5 Truncating Mutation SRRM2 chr16 2806608 2806608 G T g.2806608G>T ENST00000301740.8 c.242+1G>T p.G81_splice splice_donor_variant damaging JHH5 Truncating Mutation ZNF768 chr16 30537196 30537196 G A g.30537196G>A ENST00000380412.5 c.265C>T p.Arg89X stop_gained damaging JHH5 Truncating Mutation AXIN1 chr16 397008 397009 CT - g.397008_397009del ENST00000262320.3 c.17_18del p.Gln6ArgfsX22 frameshift_variant damaging JHH5 Truncating Mutation LLGL1 chr17 18138149 18138149 A G g.18138149A>G ENST00000316843.4 c.906-4A>G p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation EIF4A3 chr17 78117967 78117967 T G g.78117967T>G ENST00000269349.3 c.242+4A>C p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation HMHA1 chr19 1084346 1084349 GTGA - g.1084349_1084352del ENST00000313093.2 c.3064+4_3064+7del p.E1022_splice splice_donor_variant,intron_variant damaging JHH5 Truncating Mutation CD97 chr19 14512573 14512573 G T g.14512573G>T ENST00000357355.3 c.1036+1G>T p.G395_splice splice_donor_variant damaging JHH5 Truncating Mutation FBL chr19 40329676 40329676 G A g.40329676G>A ENST00000221801.3 c.548C>T p.Pro183Leu (Splice) missense_variant,splice_region_variant probably damaging JHH5 Truncating Mutation ATP5SL chr19 41939438 41939438 T A g.41939438T>A ENST00000301183.11 c.451+4A>T p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation IZUMO2 chr19 50662487 50662487 G A g.50662487G>A ENST00000293405.3 c.415C>T p.Arg139Cys (Splice) missense_variant,splice_region_variant probably damaging JHH5 Truncating Mutation KLK1 chr19 51324969 51324969 C T g.51324969C>T ENST00000301420.2 c.205G>A p.Asp69Asn (Splice) missense_variant,splice_region_variant damaging JHH5 Truncating Mutation NLRP8 chr19 56499194 56499194 G A g.56499194G>A ENST00000291971.3 c.3062G>A p.Trp1021X stop_gained damaging JHH5 Truncating Mutation PLA2R1 chr2 160832738 160832738 T G g.160832738T>G ENST00000283243.7 c.2438-2A>C p.D813_splice splice_acceptor_variant damaging JHH5 Truncating Mutation STAT4 chr2 191941055 191941056 - A g.191941055dup ENST00000358470.4 c.274-4dup p.? intron_variant damaging JHH5 Truncating Mutation SDPR chr2 192701089 192701089 G A g.192701089G>A ENST00000304141.4 c.838C>T p.Gln280X stop_gained damaging JHH5 Truncating Mutation FAM117B chr2 203620403 203620403 T C g.203620403T>C ENST00000392238.2 c.1103T>C p.Ile368Thr (Splice) missense_variant,splice_region_variant possibly damaging JHH5 Truncating Mutation KRTAP11-1 chr21 32253484 32253484 G - g.32253484del ENST00000332378.4 c.360del p.Cys121AlafsX76 frameshift_variant damaging JHH5 Truncating Mutation COL6A6 chr3 130311385 130311385 G A g.130311385G>A ENST00000358511.6 c.4273G>A p.Gly1425Arg (Splice) missense_variant,splice_region_variant probably damaging JHH5 Truncating Mutation KIF9 chr3 47284575 47284576 - A g.47284575dup ENST00000265529.3 c.1675dup p.Ser559PhefsX12 frameshift_variant damaging JHH5 Truncating Mutation FAM200B chr4 15689748 15689779 ATACCAAAATTCGTTGGTTGTCTCAAGGGAAA - g.15689752_15689783del ENST00000422728.2 c.1152_1183del p.Ile386GlnfsX4 frameshift_variant damaging JHH5 Truncating Mutation KIAA1430 chr4 186111297 186111297 C T g.186111297C>T ENST00000296775.6 c.1054G>A p.Ala352Thr (Splice) missense_variant,splice_region_variant probably damaging JHH5 Truncating Mutation MAPK10 chr4 86985444 86985444 C T g.86985444C>T ENST00000359221.3 c.1085G>A p.Trp362X stop_gained damaging JHH5 Truncating Mutation GABRB2 chr5 160753491 160753491 G A g.160753491G>A ENST00000274547.2 c.1078-3C>T p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation STX7 chr6 132791712 132791712 C T g.132791712C>T ENST00000367937.4 c.440+1G>A p.S147_splice splice_donor_variant damaging JHH5 Truncating Mutation CUTA chr6 33385777 33385777 T C g.33385777T>C ENST00000482684.1 c.1A>G p.Met1? start_lost,NMD_transcript_variant damaging JHH5 Truncating Mutation LFNG chr7 2552882 2552883 - GATG g.2552882_2552883insGATG ENST00000402506.1 c.139_140insGATG p.Asp47GlyfsX2 stop_gained,frameshift_variant damaging JHH5 Truncating Mutation COL14A1 chr8 121357799 121357799 C T g.121357799C>T ENST00000297848.3 c.5074C>T p.Arg1692X stop_gained damaging JHH5 Truncating Mutation DLGAP2 chr8 1626441 1626441 G T g.1626441G>T ENST00000421627.2 c.2110G>T p.Glu704X stop_gained damaging JHH5 Truncating Mutation ADAM28 chr8 24201098 24201098 G A g.24201098G>A ENST00000265769.4 c.1990+1G>A p.H664_splice splice_donor_variant damaging JHH5 Truncating Mutation MFHAS1 chr8 8643564 8643564 T G g.8643564T>G ENST00000276282.6 c.3127A>C p.Lys1043Gln (Splice) missense_variant,splice_region_variant probably damaging JHH5 Truncating Mutation C9orf89 chr9 95874223 95874223 A G g.95874223A>G ENST00000375464.2 c.364+3A>G p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation GNL3L chrX 54567702 54567702 T C g.54567702T>C ENST00000336470.4 c.190-4T>C p.? splice_region_variant,intron_variant damaging JHH5 Truncating Mutation HEPH chrX 65382699 65382699 C T g.65382699C>T ENST00000519389.1 c.130C>T p.Gln44X stop_gained damaging JHH6 Truncating Mutation DEDD chr1 161092316 161092316 G A g.161092316G>A ENST00000368006.3 c.581-3C>T p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation MALRD1 chr10 19338068 19338068 T C g.19338068T>C NM_001142308.2 c.199+2T>C p.? splice_donor_variant damaging JHH6 Truncating Mutation ZFP69B chr1 40919871 40919871 C G g.40919871C>G ENST00000411995.2 c.128-4C>G p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation ZSWIM5 chr1 45484401 45484401 G A g.45484401G>A ENST00000359600.5 c.3283C>T p.Arg1095X stop_gained damaging JHH6 Truncating Mutation AGRN chr1 983274 983274 T G g.983274T>G ENST00000379370.2 c.3750T>G p.Phe1250Leu (Splice) missense_variant,splice_region_variant possibly damaging JHH6 Truncating Mutation EPC1 chr10 32575774 32575774 A - g.32575774del ENST00000263062.8 c.1243-4del p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation C10orf12 chr10 98741149 98741149 T C g.98741149T>C ENST00000286067.2 c.2T>C p.Met1? start_lost benign JHH6 Truncating Mutation ZFYVE27 chr10 99508026 99508026 C T g.99508026C>T ENST00000356257.4 c.456C>T p.F152F (Splice) splice_region_variant,synonymous_variant damaging JHH6 Truncating Mutation TRPM5 chr11 2427887 2427887 G T g.2427887G>T ENST00000155858.6 c.3251+4C>A p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation C11orf82 chr11 82644888 82644889 - C g.82644890dup ENST00000430323.2 c.2510dup p.Ile838TyrfsX18 frameshift_variant damaging JHH6 Truncating Mutation HOXC8 chr12 54403164 54403165 - G g.54403166dup ENST00000040584.4 c.98dup p.Arg34GlnfsX47 frameshift_variant damaging JHH6 Truncating Mutation PAPOLA chr14 96991644 96991644 C G g.96991644C>G ENST00000216277.8 c.250-3C>G p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation RMDN3 chr15 41028796 41028796 G A g.41028796G>A ENST00000260385.6 c.1360-4C>T p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation CACNG3 chr16 24358139 24358139 G A g.24358139G>A ENST00000005284.3 c.295+1G>A p.R99_splice splice_donor_variant damaging JHH6 Truncating Mutation AXIN1 chr16 397010 397010 G A g.397010G>A ENST00000262320.3 c.16C>T p.Gln6X stop_gained damaging JHH6 Truncating Mutation MYO15A chr17 18023293 18023294 - C g.18023299dup ENST00000205890.5 c.1185dup p.Glu396ArgfsX36 frameshift_variant damaging JHH6 Truncating Mutation KRT24 chr17 38856515 38856515 C A g.38856515C>A ENST00000264651.2 c.976G>T p.Glu326X stop_gained damaging JHH6 Truncating Mutation KRT34 chr17 39535428 39535428 G A g.39535428G>A ENST00000394001.1 c.1003C>T p.Arg335X stop_gained,splice_region_variant damaging JHH6 Truncating Mutation ANKFY1 chr17 4111376 4111376 T - g.4111376del ENST00000341657.4 c.584del p.Asp195AlafsX3 frameshift_variant,splice_region_variant damaging JHH6 Truncating Mutation WBP2 chr17 73843691 73843691 C G g.73843691C>G ENST00000254806.3 c.533-1G>C p.E178_splice splice_acceptor_variant damaging JHH6 Truncating Mutation TP53 chr17 7574009 7574019 TCTCGAAGCGC - g.7574009_7574019del ENST00000269305.4 c.1008_1018del p.Glu336AspfsX7 frameshift_variant damaging JHH6 Truncating Mutation ZNF226 chr19 44681726 44681727 - A g.44681726dup ENST00000337433.5 c.2311dup p.Thr771AsnfsX10 frameshift_variant damaging JHH6 Truncating Mutation HRC chr19 49657089 49657089 G - g.49657089del ENST00000252825.4 c.1406del p.Thr469LysfsX9 frameshift_variant damaging JHH6 Truncating Mutation ZNF426 chr19 9639319 9639319 G A g.9639319G>A ENST00000253115.2 c.1402C>T p.Arg468X stop_gained damaging JHH6 Truncating Mutation PDE11A chr2 178592878 178592878 G C g.178592878G>C ENST00000286063.6 c.1811C>G p.Ser604X stop_gained damaging JHH6 Truncating Mutation COPS7B chr2 232665917 232665917 G A g.232665917G>A ENST00000373608.3 c.689G>A p.Trp230X stop_gained,splice_region_variant damaging JHH6 Truncating Mutation GALM chr2 38903156 38903156 C - g.38903157del ENST00000272252.5 c.294del p.Ile99LeufsX46 frameshift_variant damaging JHH6 Truncating Mutation ANKRD53 chr2 71209063 71209066 CAGT - g.71209066_71209069del ENST00000272421.6 c.618_621del p.Gln207HisfsX20 splice_acceptor_variant,coding_sequence_variant,intron_variant damaging JHH6 Truncating Mutation SSUH2 chr3 8677070 8677070 G A g.8677070G>A ENST00000413305.1 c.128-3C>T p.? splice_region_variant,intron_variant,NMD_transcript_variant damaging JHH6 Truncating Mutation MTMR14 chr3 9726892 9726892 C T g.9726892C>T ENST00000296003.4 c.1128-3C>T p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation KCTD8 chr4 44449651 44449651 C - g.44449651del ENST00000360029.3 c.890del p.Gly297AlafsX30 frameshift_variant damaging JHH6 Truncating Mutation KCTD8 chr4 44449654 44449654 G T g.44449654G>T ENST00000360029.3 c.887C>A p.Ser296X stop_gained damaging JHH6 Truncating Mutation SHROOM1 chr5 132161122 132161134 CCCACCGCCCCGA - g.132161122_132161134del ENST00000319854.3 c.699_711del p.Gly235ArgfsX47 frameshift_variant damaging JHH6 Truncating Mutation PCDHAC1 chr5 140308166 140308166 T - g.140308167del ENST00000253807.2 c.1690del p.Ser564LeufsX21 frameshift_variant damaging JHH6 Truncating Mutation PCDHB3 chr5 140480963 140480963 C T g.140480963C>T ENST00000231130.2 c.730C>T p.Gln244X stop_gained damaging JHH6 Truncating Mutation PCDHGA9 chr5 140783660 140783660 C T g.140783660C>T ENST00000573521.1 c.1141C>T p.Gln381X stop_gained damaging JHH6 Truncating Mutation EMB chr5 49699249 49699249 C A g.49699249C>A ENST00000303221.5 c.640G>T p.Gly214X stop_gained damaging JHH6 Truncating Mutation ITPR3 chr6 33626896 33626896 G A g.33626896G>A ENST00000374316.5 c.627G>A p.E209E (Splice) splice_region_variant,synonymous_variant damaging JHH6 Truncating Mutation GLO1 chr6 38650595 38650595 G - g.38650595del ENST00000373365.4 c.365del p.Pro122LeufsX29 frameshift_variant damaging JHH6 Truncating Mutation CTTNBP2 chr7 117513398 117513417 CGCCGCGGCCCCCGCCGCGT - g.117513398_117513417del ENST00000160373.3 c.53_72del p.Asp18GlyfsX8 frameshift_variant damaging JHH6 Truncating Mutation WDR86 chr7 151093010 151093011 GT - g.151093010_151093011del ENST00000334493.6 c.577_578del p.Thr193GlyfsX269 frameshift_variant damaging JHH6 Truncating Mutation TRAPPC9 chr8 141297837 141297837 A C g.141297837A>C ENST00000438773.2 c.1855-4T>G p.? splice_region_variant,intron_variant damaging JHH6 Truncating Mutation SURF2 chr9 136226922 136226932 GCCCGCGGGAA - g.136226925_136226935del ENST00000371964.4 c.437_447del p.Pro146LeufsX8 frameshift_variant damaging JHH6 Truncating Mutation MAMDC2 chr9 72741128 72741128 C T g.72741128C>T ENST00000377182.4 c.697C>T p.Gln233X stop_gained damaging JHH6 Truncating Mutation NFIL3 chr9 94171641 94171650 GAAGCAGAGA - g.94171641_94171650del ENST00000297689.3 c.1367_1376del p.Ile456LysfsX36 frameshift_variant damaging JHH6 Truncating Mutation NXF3 chrX 102334191 102334191 C T g.102334191C>T ENST00000395065.3 c.1336G>A p.Glu446Lys (Splice) missense_variant,splice_region_variant damaging JHH6 Truncating Mutation TAB3 chrX 30873613 30873613 C A g.30873613C>A ENST00000288422.2 c.169G>T p.Glu57X stop_gained damaging JHH7 Truncating Mutation PYHIN1 chr1 158908201 158908201 G T g.158908201G>T ENST00000368135.4 c.280G>T p.Glu94X stop_gained damaging JHH7 Truncating Mutation LAX1 chr1 203741195 203741195 G T g.203741195G>T ENST00000367217.5 c.263-1G>T p.G104_splice splice_acceptor_variant damaging JHH7 Truncating Mutation SOX13 chr1 204092094 204092094 A G g.204092094A>G ENST00000367204.1 c.1134+3A>G p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation PLEKHA6 chr1 204237336 204237336 C A g.204237336C>A ENST00000272203.3 c.207G>T p.Gln69His (Splice) missense_variant,splice_region_variant possibly damaging JHH7 Truncating Mutation JMJD4 chr1 227921276 227921276 C - g.227921276del ENST00000366758.3 c.799del p.Asp267ThrfsX10 frameshift_variant damaging JHH7 Truncating Mutation IRF2BP2 chr1 234745152 234745152 C T g.234745152C>T ENST00000366609.3 c.89G>A p.Trp30X stop_gained damaging JHH7 Truncating Mutation WRAP73 chr1 3548778 3548778 G A g.3548778G>A ENST00000270708.7 c.1047C>T p.N349N (Splice) splice_region_variant,synonymous_variant damaging JHH7 Truncating Mutation ZYG11A chr1 53323195 53323195 T - g.53323196del ENST00000371528.1 c.783del p.Asp262IlefsX12 frameshift_variant damaging JHH7 Truncating Mutation INADL chr1 62545239 62545239 G A g.62545239G>A ENST00000316485.6 c.4243G>A p.Gly1415Ser (Splice) missense_variant,splice_region_variant damaging JHH7 Truncating Mutation FBXL15 chr10 104181864 104181864 C - g.104181865del ENST00000224862.3 c.529del p.Arg177AlafsX87 frameshift_variant damaging JHH7 Truncating Mutation GDF10 chr10 48428642 48428642 T G g.48428642T>G ENST00000224605.2 c.1244A>C p.Lys415Thr (Splice) missense_variant,splice_region_variant probably damaging JHH7 Truncating Mutation PRMT3 chr11 20411375 20411375 G A g.20411375G>A ENST00000330796.5 c.111+3G>A p.? splice_region_variant,intron_variant,NMD_transcript_variant damaging JHH7 Truncating Mutation ALKBH3 chr11 43941467 43941467 G A g.43941467G>A ENST00000302708.4 c.769-1G>A p.H257_splice splice_acceptor_variant damaging JHH7 Truncating Mutation CNGA4 chr11 6261928 6261928 C T g.6261928C>T ENST00000379936.2 c.904C>T p.Arg302X stop_gained damaging JHH7 Truncating Mutation SIPA1 chr11 65416780 65416780 G - g.65416785del ENST00000394224.3 c.2359del p.Ala787ProfsX12 frameshift_variant damaging JHH7 Truncating Mutation TMEM9B chr11 8977737 8977737 C T g.8977737C>T ENST00000534025.1 c.306G>A p.K102K (Splice) splice_region_variant,synonymous_variant damaging JHH7 Truncating Mutation FAT3 chr11 92430546 92430546 A G g.92430546A>G ENST00000298047.6 c.3608-4A>G p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation TXNRD1 chr12 104651803 104651807 AAGTT - g.104651804_104651808del ENST00000429002.2 c.251_255del p.Lys84IlefsX2 frameshift_variant damaging JHH7 Truncating Mutation KLRC2 chr12 10588012 10588012 G T g.10588012G>T ENST00000381901.1 c.188-3C>A p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation ZNF84 chr12 133635292 133635293 TC - g.133635296_133635297del ENST00000327668.7 c.1995_1996del p.Arg666GlufsX14 frameshift_variant damaging JHH7 Truncating Mutation MUC19 chr12 40868943 40868943 G - g.40868943del ENST00000454784.4 c.4247del p.S1416fs frameshift_variant damaging JHH7 Truncating Mutation ENDOU chr12 48111969 48111969 T A g.48111969T>A ENST00000422538.3 c.187A>T p.Lys63X stop_gained damaging JHH7 Truncating Mutation UPF3A chr13 115047595 115047599 GACCT - g.115047597_115047601del ENST00000375299.3 c.309_313del p.Asp103GlufsX13 frameshift_variant damaging JHH7 Truncating Mutation SUPT20H chr13 37607725 37607725 C - g.37607725del ENST00000350612.6 c.568del p.Glu190LysfsX12 frameshift_variant,splice_region_variant damaging JHH7 Truncating Mutation ADCY4 chr14 24788531 24788531 G A g.24788531G>A ENST00000310677.4 c.2841+4C>T p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation CCDC88C chr14 91745582 91745582 C A g.91745582C>A ENST00000389857.6 c.4768G>T p.Gly1590Cys (Splice) missense_variant,splice_region_variant probably damaging JHH7 Truncating Mutation SPRED1 chr15 38617012 38617012 T C g.38617012T>C ENST00000299084.4 c.423+2T>C p.Q141_splice splice_donor_variant damaging JHH7 Truncating Mutation CLPX chr15 65450248 65450248 C G g.65450248C>G ENST00000300107.3 c.893G>C p.Gly298Ala (Splice) missense_variant,splice_region_variant probably damaging JHH7 Truncating Mutation IQGAP1 chr15 91009229 91009229 G A g.91009229G>A ENST00000268182.5 c.1777-4G>A p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation SRP68 chr17 74056470 74056470 C T g.74056470C>T ENST00000307877.2 c.756G>A p.G252G (Splice) splice_region_variant,synonymous_variant damaging JHH7 Truncating Mutation DHRS7C chr17 9683143 9683144 TT - g.9683143_9683144del ENST00000571134.1 c.476_477del p.Lys159SerfsX19 frameshift_variant,splice_region_variant damaging JHH7 Truncating Mutation ZBTB7C chr18 45556140 45556140 C A g.45556140C>A ENST00000332053.2 c.1351G>T p.Glu451X stop_gained damaging JHH7 Truncating Mutation PIGN chr18 59813142 59813142 C A g.59813142C>A ENST00000357637.5 c.922G>T p.E308X stop_gained,splice_region_variant damaging JHH7 Truncating Mutation ZNF98 chr19 22585626 22585626 T - g.22585626del ENST00000357774.5 c.218del p.Asn73MetfsX2 frameshift_variant damaging JHH7 Truncating Mutation CAPN12 chr19 39224844 39224844 G A g.39224844G>A ENST00000328867.4 c.1816C>T p.His606Tyr (Splice) missense_variant,splice_region_variant damaging JHH7 Truncating Mutation ZNF226 chr19 44681726 44681727 - A g.44681726dup ENST00000337433.5 c.2311dup p.Thr771AsnfsX10 frameshift_variant damaging JHH7 Truncating Mutation LIG1 chr19 48618993 48618993 C G g.48618993C>G ENST00000263274.7 c.2677-4G>C p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation SAP130 chr2 128757722 128757722 T C g.128757722T>C ENST00000259235.3 c.1096-2A>G p.K366_splice splice_acceptor_variant damaging JHH7 Truncating Mutation ABCB11 chr2 169828559 169828559 A T g.169828559A>T ENST00000263817.6 c.1436T>A p.Val479Glu (Splice) missense_variant,splice_region_variant probably damaging JHH7 Truncating Mutation PKDCC chr2 42284361 42284361 A G g.42284361A>G ENST00000294964.5 c.1223A>G p.Glu408Gly (Splice) missense_variant,splice_region_variant possibly damaging JHH7 Truncating Mutation AP000350.4 chr22 24237529 24237529 C - g.24237530del ENST00000406213.1 c.276del p.R92fs frameshift_variant damaging JHH7 Truncating Mutation PIWIL3 chr22 25119171 25119172 - A g.25119171dup ENST00000332271.5 c.2310dup p.Leu771SerfsX2 frameshift_variant damaging JHH7 Truncating Mutation GRAMD4 chr22 47059761 47059761 G A g.47059761G>A ENST00000361034.3 c.625+1G>A p.K209_splice splice_donor_variant damaging JHH7 Truncating Mutation TNK2 chr3 195597077 195597077 C T g.195597077C>T ENST00000381916.2 c.1641-1G>A p.E484_splice splice_acceptor_variant damaging JHH7 Truncating Mutation CLASP2 chr3 33644621 33644621 C A g.33644621C>A ENST00000461133.3 c.1052-4G>T p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation CAMP chr3 48265951 48265951 G A g.48265951G>A ENST00000576243.1 c.309G>A p.G103G (Splice) splice_region_variant,synonymous_variant damaging JHH7 Truncating Mutation COL7A1 chr3 48602593 48602593 C A g.48602593C>A ENST00000328333.8 c.8569G>T p.Glu2857X stop_gained damaging JHH7 Truncating Mutation LAMB2 chr3 49163400 49163400 G A g.49163400G>A ENST00000305544.4 c.2344C>T p.Pro782Ser (Splice) missense_variant,splice_region_variant damaging JHH7 Truncating Mutation STAB1 chr3 52543336 52543336 A G g.52543336A>G ENST00000321725.6 c.2346A>G p.E782E (Splice) splice_region_variant,synonymous_variant damaging JHH7 Truncating Mutation CNTN3 chr3 74419036 74419036 T C g.74419036T>C ENST00000263665.6 c.761+4A>G p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation BST1 chr4 15724558 15724558 G A g.15724558G>A ENST00000265016.4 c.851+1G>A p.S284_splice splice_donor_variant damaging JHH7 Truncating Mutation DDX60 chr4 169223566 169223566 T G g.169223566T>G ENST00000393743.3 c.608A>C p.Asn203Thr (Splice) missense_variant,splice_region_variant possibly damaging JHH7 Truncating Mutation APBB2 chr4 40825659 40825659 A G g.40825659A>G ENST00000502841.1 c.285+2T>C p.K643_splice splice_donor_variant damaging JHH7 Truncating Mutation FIP1L1 chr4 54310269 54310269 T A g.54310269T>A ENST00000337488.6 c.1284T>A p.Asn428Lys (Splice) missense_variant,splice_region_variant damaging JHH7 Truncating Mutation SNCAIP chr5 121761048 121761048 C T g.121761048C>T ENST00000261368.8 c.1004C>T p.Pro335Leu (Splice) missense_variant,splice_region_variant probably damaging JHH7 Truncating Mutation SPEF2 chr5 35700659 35700659 C T g.35700659C>T ENST00000356031.3 c.2203C>T p.Gln735X stop_gained damaging JHH7 Truncating Mutation TRAF3IP2 chr6 111894190 111894190 A T g.111894190A>T ENST00000359831.4 c.1202-4T>A p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation POM121L2 chr6 27277051 27277051 C - g.27277051del ENST00000444565.1 c.2899del p.Ala967ProfsX79 frameshift_variant damaging JHH7 Truncating Mutation SLC35B4 chr7 133986510 133986510 T C g.133986510T>C ENST00000378509.4 c.487+3A>G p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation NUP205 chr7 135287555 135287555 A - g.135287560del ENST00000285968.6 c.2520del p.Lys840AsnfsX28 frameshift_variant,splice_region_variant damaging JHH7 Truncating Mutation CLEC5A chr7 141635690 141635690 G T g.141635690G>T ENST00000546910.1 c.269C>A p.Ser90X stop_gained damaging JHH7 Truncating Mutation TMEM139 chr7 142983294 142983294 C T g.142983294C>T ENST00000359333.3 c.244C>T p.Arg82Trp (Splice) missense_variant,splice_region_variant probably damaging JHH7 Truncating Mutation ZFP41 chr8 144332555 144332555 C - g.144332556del ENST00000330701.4 c.543del p.Tyr182ThrfsX92 frameshift_variant damaging JHH7 Truncating Mutation ADAM18 chr8 39495155 39495155 C T g.39495155C>T ENST00000265707.5 c.760C>T p.Gln254X stop_gained damaging JHH7 Truncating Mutation OR13C4 chr9 107288581 107288581 T A g.107288581T>A ENST00000277216.3 c.910A>T p.Lys304X stop_gained damaging JHH7 Truncating Mutation C9orf117 chr9 130474107 130474107 C - g.130474107del ENST00000373295.2 c.864del p.Met289CysfsX2 frameshift_variant damaging JHH7 Truncating Mutation NSMF chr9 140348895 140348895 C T g.140348895C>T ENST00000371473.3 c.780G>A p.R260R (Splice) splice_region_variant,synonymous_variant damaging JHH7 Truncating Mutation DPH7 chr9 140459061 140459061 G A g.140459061G>A ENST00000277540.2 c.777-3C>T p.? splice_region_variant,intron_variant damaging JHH7 Truncating Mutation IL13RA1 chrX 117910389 117910389 G A g.117910389G>A ENST00000371666.3 c.1107-1G>A p.R369_splice splice_acceptor_variant damaging SNU354 Truncating Mutation FCGR1B chr1 120930039 120930039 C A g.120930039C>A ENST00000369384.4 c.562G>T p.Gly188Cys (Splice) missense_variant,splice_region_variant damaging SNU354 Truncating Mutation DCST1 chr1 155020645 155020645 C T g.155020645C>T ENST00000295542.1 c.1868C>T p.Pro623Leu (Splice) missense_variant,splice_region_variant damaging SNU354 Truncating Mutation SMG5 chr1 156233365 156233365 G C g.156233365G>C ENST00000361813.5 c.1856-4C>G p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation OR2T4 chr1 248525267 248525268 - TGTGGGATGCAGATGTTCCTCTATCTGACACTAGCAGGTTCAGAATTTTTCCTTCTAG g.248525267_248525268ins58 ENST00000366475.1 c.385_386insTGTGGGATGCAGATGTTCCTCTATCTGACACTAGCAGGTTCAGAATTTTTCCTTCTAG p.Cys129LeufsX44 frameshift_variant damaging SNU354 Truncating Mutation RLF chr1 40703521 40703521 T A g.40703521T>A ENST00000372771.4 c.3147T>A p.Cys1049X stop_gained damaging SNU354 Truncating Mutation SLC2A5 chr1 9101738 9101738 C T g.9101738C>T ENST00000377414.3 c.677G>A p.Trp226X stop_gained damaging SNU354 Truncating Mutation MOB2 chr11 1563620 1563620 G A g.1563620G>A NA NA NA NA damaging SNU354 Truncating Mutation PTPLA chr10 17659338 17659338 T C g.17659338T>C ENST00000326961.6 c.1A>G p.Met1? start_lost benign SNU354 Truncating Mutation FBXO18 chr10 5967454 5967454 T G g.5967454T>G ENST00000362091.4 c.2721T>G p.V907V (Splice) splice_region_variant,synonymous_variant damaging SNU354 Truncating Mutation IFIT3 chr10 91099129 91099129 C A g.91099129C>A ENST00000371811.4 c.717C>A p.Cys239X stop_gained damaging SNU354 Truncating Mutation OR52K1 chr11 4510182 4510182 G T g.4510182G>T ENST00000307632.3 c.52G>T p.Gly18X stop_gained damaging SNU354 Truncating Mutation LTBP3 chr11 65315520 65315520 C T g.65315520C>T ENST00000301873.5 c.1721-4G>A p.E574_splice splice_region_variant,intron_variant damaging SNU354 Truncating Mutation LRTOMT chr11 71819661 71819661 T - g.71819661del ENST00000307198.7 c.566del p.Ile189ThrfsX8 frameshift_variant damaging SNU354 Truncating Mutation ARID2 chr12 46245173 46245174 - T g.46245173dup ENST00000334344.6 c.3267dup p.Ala1090CysfsX5 frameshift_variant damaging SNU354 Truncating Mutation ARID2 chr12 46246175 46246175 G - g.46246177del ENST00000334344.6 c.4271del p.Gly1424ValfsX5 frameshift_variant damaging SNU354 Truncating Mutation ADCY4 chr14 24795281 24795281 G T g.24795281G>T ENST00000310677.4 c.1655+4C>A p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation EXOC5 chr14 57676783 57676783 G A g.57676783G>A ENST00000413566.2 c.1614-4C>T p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation CHRM5 chr15 34356204 34356207 GAAA - g.34356206_34356209del ENST00000383263.5 c.1288_1291del p.Lys430GlufsX4 frameshift_variant damaging SNU354 Truncating Mutation WDR93 chr15 90281281 90281281 C A g.90281281C>A ENST00000268130.7 c.1775C>A p.Ser592X stop_gained damaging SNU354 Truncating Mutation AXIN1 chr16 347963 347963 T A g.347963T>A ENST00000262320.3 c.1543A>T p.Lys515X stop_gained damaging SNU354 Truncating Mutation TRAP1 chr16 3739141 3739141 A G g.3739141A>G ENST00000246957.5 c.248-3T>C p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation AKTIP chr16 53532507 53532507 C T g.53532507C>T ENST00000300245.4 c.44G>A p.Arg15Gln (Splice) missense_variant,splice_region_variant probably damaging SNU354 Truncating Mutation GALR2 chr17 74073511 74073511 G C g.74073511G>C ENST00000329003.3 c.1163G>C p.X388SerextX48 stop_lost damaging SNU354 Truncating Mutation TP53 chr17 7579495 7579496 - G g.7579495dup ENST00000269305.4 c.192dup p.Arg65GlnfsX84 frameshift_variant damaging SNU354 Truncating Mutation SEH1L chr18 12984037 12984037 A T g.12984037A>T ENST00000262124.11 c.920-2A>T p.A307_splice splice_acceptor_variant damaging SNU354 Truncating Mutation ICAM4 chr19 10398348 10398348 C T g.10398348C>T ENST00000340992.4 c.454C>T p.Arg152X stop_gained damaging SNU354 Truncating Mutation MAN2B1 chr19 12774276 12774276 C T g.12774276C>T ENST00000221363.4 c.764G>A p.Gly255Asp (Splice) missense_variant,splice_region_variant probably damaging SNU354 Truncating Mutation SELV chr19 40009407 40009407 C T g.40009407C>T ENST00000335426.4 c.862C>T p.Q288X stop_gained damaging SNU354 Truncating Mutation GALP chr19 56688565 56688565 G A g.56688565G>A ENST00000357330.2 c.87+1G>A p.R29_splice splice_donor_variant damaging SNU354 Truncating Mutation MAP4K4 chr2 102486258 102486258 G A g.102486258G>A ENST00000347699.4 c.2395G>A p.Ala799Thr (Splice) missense_variant,splice_region_variant possibly damaging SNU354 Truncating Mutation TTN chr2 179470138 179470138 C - g.179470138del ENST00000591111.1 c.48958+3del p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation LBP chr20 36997808 36997808 T - g.36997808del ENST00000217407.2 c.1149+2del p.V383_splice splice_donor_variant damaging SNU354 Truncating Mutation SYCP2 chr20 58475799 58475799 C T g.58475799C>T ENST00000357552.3 c.1257G>A p.Q419Q (Splice) splice_region_variant,synonymous_variant damaging SNU354 Truncating Mutation HACL1 chr3 15621552 15621552 C T g.15621552C>T ENST00000321169.5 c.668G>A p.Gly223Asp (Splice) missense_variant,splice_region_variant probably damaging SNU354 Truncating Mutation PP2D1 chr3 20042849 20042850 AC - g.20042849_20042850del ENST00000333083.7 c.762_763del p.Phe255X frameshift_variant,NMD_transcript_variant damaging SNU354 Truncating Mutation SEMA3F chr3 50211665 50211665 G T g.50211665G>T ENST00000002829.3 c.338G>T p.Gly113Val (Splice) missense_variant,splice_region_variant probably damaging SNU354 Truncating Mutation HEMK1 chr3 50617808 50617808 T A g.50617808T>A ENST00000232854.4 c.981-4T>A p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation TNIP3 chr4 122068205 122068205 T A g.122068205T>A ENST00000057513.3 c.734A>T p.Gln245Leu (Splice) missense_variant,splice_region_variant probably damaging SNU354 Truncating Mutation PARK2 chr6 162683801 162683801 T C g.162683801T>C ENST00000366892.1 c.172-4A>G p.? splice_region_variant,intron_variant damaging SNU354 Truncating Mutation CADPS2 chr7 122076433 122076433 G C g.122076433G>C NM_001167940.1 c.2478C>G p.Gly826Gly (Splice) splice_region_variant,synonymous_variant damaging SNU354 Truncating Mutation COL22A1 chr8 139688801 139688801 A G g.139688801A>G ENST00000303045.6 c.3150T>C p.P1050P (Splice) splice_region_variant,synonymous_variant damaging SNU354 Truncating Mutation C8G chr9 139839784 139839784 T - g.139839784del ENST00000224181.3 c.12del p.Thr6LeufsX5 frameshift_variant damaging SNU354 Truncating Mutation TYW1B chr7 72277904 72277904 G A g.72277904G>A ENST00000435769.2 c.478C>T p.Arg160Cys missense_variant probably damaging SNU354 Truncating Mutation DDX26B chrX 134706812 134706813 - A g.134706816dup ENST00000370752.4 c.1364dup p.Asn455LysfsX13 frameshift_variant damaging SNU368 Truncating Mutation EMC1 chr1 19557456 19557456 A C g.19557456A>C ENST00000477853.1 c.1946T>G p.Val649Gly (Splice) missense_variant,splice_region_variant probably damaging SNU368 Truncating Mutation WNT4 chr1 22447847 22447861 CTGGGGTGTGGTGGG - g.22447847_22447861del ENST00000290167.6 c.446-15_446-1del p.G149_splice splice_acceptor_variant,intron_variant damaging SNU368 Truncating Mutation ADCK3 chr1 227171556 227171556 G T g.227171556G>T ENST00000366777.3 c.1256+1G>T p.R419_splice splice_donor_variant damaging SNU368 Truncating Mutation ARID1A chr1 27101534 27101535 - T g.27101535dup ENST00000324856.7 c.4817dup p.Leu1607ProfsX41 frameshift_variant damaging SNU368 Truncating Mutation NDC1 chr1 54272191 54272191 C T g.54272191C>T NM_001168551.1 c.772-1G>A p.A298_splice splice_acceptor_variant damaging SNU368 Truncating Mutation CDH23 chr10 73437449 73437449 G A g.73437449G>A NM_001171930.1 c.1751G>A p.Arg584Gln (Splice) missense_variant,splice_region_variant damaging SNU368 Truncating Mutation DYNC2H1 chr11 103090641 103090641 T C g.103090641T>C ENST00000375735.2 c.8833-3T>C p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation EXPH5 chr11 108464258 108464258 C - g.108464258del ENST00000265843.4 c.6del p.Val4PhefsX10 frameshift_variant damaging SNU368 Truncating Mutation OR4D5 chr11 123811069 123811069 T G g.123811069T>G ENST00000307033.2 c.746T>G p.Leu249X stop_gained damaging SNU368 Truncating Mutation ABCC8 chr11 17482222 17482222 C T g.17482222C>T ENST00000302539.4 c.824G>A p.Arg275Gln (Splice) missense_variant,splice_region_variant damaging SNU368 Truncating Mutation OR51G1 chr11 4945569 4945569 T C g.4945569T>C ENST00000321961.2 c.1A>G p.Met1? start_lost possibly damaging SNU368 Truncating Mutation DNHD1 chr11 6577910 6577910 T C g.6577910T>C ENST00000254579.6 c.7388-3T>C p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation AHNAK2 chr14 105417748 105417749 - GTCCACTTGGCCAGCCTGGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACATCGGCCTCCACCTTCGGCGCAGACACATCCACCGAGGCCTCG g.105417748_105417749ins139 ENST00000333244.5 c.4039_4040insCGAGGCCTCGGTGGATGTGTCTGCGCCGAAGGTGGAGGCCGATGTGAGCCTCCCCTCCATGCAGGGGGACCTCAAGACCACGGACCTCTGCATTCCGCTCCCTTCTGCAGACCTGGTGGTCCAGGCTGGCCAAGTGGAC p.Ile1347ThrfsX16 stop_gained,frameshift_variant damaging SNU368 Truncating Mutation OR4K14 chr14 20482440 20482440 G A g.20482440G>A ENST00000305045.2 c.913C>T p.Arg305X stop_gained damaging SNU368 Truncating Mutation EFS chr14 23826872 23826872 G A g.23826872G>A ENST00000216733.3 c.1252-3C>T p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation CIB1 chr15 90775562 90775562 G A g.90775562G>A ENST00000328649.6 c.87-3C>T p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation AXIN1 chr16 396476 396476 G A g.396476G>A ENST00000262320.3 c.550C>T p.Gln184X stop_gained damaging SNU368 Truncating Mutation EFCAB5 chr17 28400662 28400662 G A g.28400662G>A ENST00000536908.2 c.2529-4G>A p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation TRPV3 chr17 3421870 3421870 C T g.3421870C>T ENST00000301365.4 c.2085G>A p.Q695Q (Splice) splice_region_variant,synonymous_variant damaging SNU368 Truncating Mutation MRC2 chr17 60768003 60768003 C T g.60768003C>T ENST00000303375.5 c.3893C>T p.Ala1298Val (Splice) missense_variant,splice_region_variant damaging SNU368 Truncating Mutation UBA2 chr19 34941167 34941167 A C g.34941167A>C ENST00000246548.4 c.772-3A>C p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation ITGA4 chr2 182398999 182398999 G A g.182398999G>A ENST00000397033.2 c.2785G>A p.Asp929Asn (Splice) missense_variant,splice_region_variant possibly damaging SNU368 Truncating Mutation ALK chr2 29473967 29473967 G A g.29473967G>A ENST00000389048.3 c.2204+4C>T p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation NAA20 chr20 20003098 20003098 A G g.20003098A>G ENST00000310450.4 c.54-2A>G p.I18_splice splice_acceptor_variant damaging SNU368 Truncating Mutation URB1 chr21 33750854 33750854 G A g.33750854G>A ENST00000382751.3 c.568-4C>T p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation SPATC1L chr21 47581826 47581826 G A g.47581826G>A ENST00000291672.5 c.696+4C>T p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation BID chr22 18222113 18222113 A G g.18222113A>G ENST00000399774.3 c.363+2T>C p.E121_splice splice_donor_variant damaging SNU368 Truncating Mutation COL6A6 chr3 130284242 130284242 C T g.130284242C>T ENST00000358511.6 c.1066C>T p.Arg356X stop_gained damaging SNU368 Truncating Mutation COL7A1 chr3 48620447 48620447 C A g.48620447C>A ENST00000328333.8 c.4517G>T p.Arg1506Leu (Splice) missense_variant,splice_region_variant probably damaging SNU368 Truncating Mutation CDS1 chr4 85556475 85556476 - T g.85556483dup ENST00000295887.5 c.789dup p.Gly264TrpfsX7 frameshift_variant damaging SNU368 Truncating Mutation IL20RA chr6 137323255 137323255 C A g.137323255C>A ENST00000316649.5 c.1102G>T p.Glu368X stop_gained damaging SNU368 Truncating Mutation CDKN1A chr6 36652125 36652144 CGGCGAGGCCGGGATGAGTT - g.36652125_36652144del ENST00000244741.5 c.247_266del p.Arg83GlyfsX39 frameshift_variant damaging SNU368 Truncating Mutation SMIM8 chr6 88050947 88050947 G - g.88050947delG ENST00000608525.1 c.139del p.Val47PhefsX5 frameshift_variant damaging SNU368 Truncating Mutation DPY19L1 chr7 35013221 35013222 - A g.35013221dup ENST00000310974.4 c.604-4dup p.? intron_variant damaging SNU368 Truncating Mutation SUN3 chr7 48048629 48048629 C T g.48048629C>T ENST00000297325.4 c.329+3G>A p.? splice_region_variant,intron_variant damaging SNU368 Truncating Mutation PCLO chr7 82585242 82585242 A - g.82585242del ENST00000333891.9 c.5027del p.Ile1676LysfsX29 frameshift_variant damaging SNU368 Truncating Mutation AGTPBP1 chr9 88248290 88248290 C A g.88248290C>A ENST00000376083.3 c.1183-1G>T p.D435_splice splice_acceptor_variant damaging SNU368 Truncating Mutation SCML2 chrX 18278408 18278408 T A g.18278408T>A ENST00000251900.4 c.952A>T p.Lys318X stop_gained damaging SNU739 Truncating Mutation OR6K2 chr1 158670263 158670263 A T g.158670263A>T ENST00000359610.2 c.180T>A p.Tyr60X stop_gained damaging SNU739 Truncating Mutation CROCC chr1 17274822 17274822 C A g.17274822C>A ENST00000375541.5 c.2515-4C>A p.? splice_region_variant,intron_variant damaging SNU739 Truncating Mutation CR1L chr1 207867694 207867694 C G g.207867694C>G ENST00000508064.2 c.464-4C>G p.? splice_region_variant,intron_variant damaging SNU739 Truncating Mutation IFI44L chr1 79094069 79094069 C T g.79094069C>T ENST00000370751.5 c.469C>T p.Arg157X stop_gained damaging SNU739 Truncating Mutation DNTT chr10 98088481 98088481 G T g.98088481G>T ENST00000371174.2 c.1008-1G>T p.? splice_acceptor_variant damaging SNU739 Truncating Mutation PHF21A chr11 45967555 45967555 C T g.45967555C>T ENST00000418153.2 c.1286-1G>A p.? splice_acceptor_variant damaging SNU739 Truncating Mutation OR8H3 chr11 55890377 55890377 T - g.55890381del ENST00000313472.3 c.533del p.Phe178SerfsX8 frameshift_variant damaging SNU739 Truncating Mutation OR4D9 chr11 59283083 59283083 G - g.59283084del ENST00000329328.3 c.699del p.Arg234GlyfsX14 frameshift_variant damaging SNU739 Truncating Mutation GPR152 chr11 67219047 67219047 C - g.67219047del ENST00000312457.2 c.1149del p.Gln383HisfsX10 frameshift_variant damaging SNU739 Truncating Mutation UCP3 chr11 73716955 73716956 - GACCCGTCCCTTGGACAGAAGGGAGCCTGATCATCTCCCGGGGTGTGCC g.73716955_73716956ins49 ENST00000314032.4 c.360_361insGGCACACCCCGGGAGATGATCAGGCTCCCTTCTGTCCAAGGGACGGGTC p.Leu121GlyfsX92 frameshift_variant damaging SNU739 Truncating Mutation UCP3 chr11 73717987 73717988 - TTCCACTTGTCACAAACTGAACTCATGTCTCCCCCCAGCTTCCACTTTGATTTCAGTCG g.73717987_73717988ins59 ENST00000314032.4 c.100_101insCGACTGAAATCAAAGTGGAAGCTGGGGGGAGACATGAGTTCAGTTTGTGACAAGTGGAA p.Leu34ProfsX17 stop_gained,frameshift_variant damaging SNU739 Truncating Mutation KLHL35 chr11 75139488 75139488 G A g.75139488G>A ENST00000539798.1 c.1065C>T p.S355S (Splice) splice_region_variant,synonymous_variant damaging SNU739 Truncating Mutation SLC6A13 chr12 336730 336730 C A g.336730C>A ENST00000445055.2 c.659+1G>T p.? splice_donor_variant damaging SNU739 Truncating Mutation NAV3 chr12 78553067 78553067 G A g.78553067G>A ENST00000228327.6 c.4869+1G>A p.? splice_donor_variant damaging SNU739 Truncating Mutation BRCA2 chr13 32972800 32972800 C T g.32972800C>T ENST00000380152.3 c.10150C>T p.Arg3384X stop_gained damaging SNU739 Truncating Mutation TMEM260 chr14 57101616 57101616 G C g.57101616G>C ENST00000261556.6 c.1725-1G>C p.? splice_acceptor_variant damaging SNU739 Truncating Mutation GABRB3 chr15 26874146 26874146 C T g.26874146C>T ENST00000400188.3 c.5G>A p.Trp2X stop_gained damaging SNU739 Truncating Mutation WWOX chr16 78142316 78142316 A T g.78142316A>T ENST00000355860.3 c.108-4A>T p.? splice_region_variant,intron_variant damaging SNU739 Truncating Mutation ATP2C2 chr16 84493144 84493145 CA - g.chr16:84493144_84493145delCA ENST00000416219.2 c.2366_2367del p.Ala789GlyfsX25 frameshift_variant damaging SNU739 Truncating Mutation SPAG5 chr17 26925653 26925653 C T g.26925653C>T ENST00000321765.5 c.52G>A p.Gly18Arg (Splice) missense_variant,splice_region_variant probably damaging SNU739 Truncating Mutation KRT37 chr17 39577617 39577617 A T g.39577617A>T ENST00000225550.3 c.1241+2T>A p.? splice_donor_variant damaging SNU739 Truncating Mutation C17orf53 chr17 42225640 42225640 G T g.42225640G>T ENST00000245382.6 c.469G>T p.Glu157X stop_gained damaging SNU739 Truncating Mutation USP32 chr17 58289386 58289386 C T g.58289386C>T ENST00000300896.4 c.2178G>A p.K726K (Splice) splice_region_variant,synonymous_variant damaging SNU739 Truncating Mutation DNAH2 chr17 7671368 7671369 AA - g.7671369_7671370del ENST00000389173.2 c.3827_3828del p.Lys1276ArgfsX3 frameshift_variant damaging SNU739 Truncating Mutation FOXK2 chr17 80544075 80544076 - AGTGAAAGTAGAGCCTATTCCCGCCATTGGCCACGCCACGCTC g.80544075_80544076ins43 ENST00000335255.5 c.1575_1576insAGTGAAAGTAGAGCCTATTCCCGCCATTGGCCACGCCACGCTC p.Val526SerfsX111 frameshift_variant,splice_region_variant damaging SNU739 Truncating Mutation MOCOS chr18 33775308 33775308 T C g.33775308T>C ENST00000261326.5 c.231T>C p.Y77Y (Splice) splice_region_variant,synonymous_variant damaging SNU739 Truncating Mutation MAST3 chr19 18239233 18239233 G T g.18239233G>T ENST00000262811.6 c.1015G>T p.Glu339X stop_gained damaging SNU739 Truncating Mutation PRODH2 chr19 36293090 36293090 T C g.36293090T>C ENST00000301175.3 c.1426+3A>G p.? splice_region_variant,intron_variant damaging SNU739 Truncating Mutation HCST chr19 36393503 36393507 ATCTG - g.36393503_36393507del ENST00000246551.4 c.8_12del p.His3ArgfsX53 frameshift_variant damaging SNU739 Truncating Mutation NAPSA chr19 50868797 50868797 G A g.50868797G>A ENST00000253719.2 c.82C>T p.Arg28Cys (Splice) missense_variant,splice_region_variant probably damaging SNU739 Truncating Mutation CDKL4 chr2 39414802 39414803 - AA g.39414802_39414803dup ENST00000378803.1 c.700_701dup p.His235SerfsX27 frameshift_variant damaging SNU739 Truncating Mutation CDS2 chr20 5157290 5157290 G A g.5157290G>A ENST00000460006.1 c.292-4G>A p.? splice_region_variant,intron_variant damaging SNU739 Truncating Mutation FOLH1B chr11 89402661 89402662 TT - g.89402663_89402664del NM_153696.2 c.87_88del p.Ser30TyrfsX13 frameshift_variant damaging SNU739 Truncating Mutation PARVG chr22 44586427 44586427 C T g.44586427C>T ENST00000356909.3 c.389-4C>T p.? splice_region_variant,intron_variant,NMD_transcript_variant damaging SNU739 Truncating Mutation DOCK3 chr3 51413180 51413180 C T g.51413180C>T ENST00000266037.9 c.5414C>T p.Pro1805Leu (Splice) missense_variant,splice_region_variant damaging SNU739 Truncating Mutation EMCN chr4 101344483 101344484 GT - g.101344483_101344484del ENST00000296420.4 c.493_494del p.Thr165LeufsX9 frameshift_variant damaging SNU739 Truncating Mutation ATG9B chr7 150714212 150714212 G A g.150714212G>A ENST00000377974.2 c.2200C>T p.R734X stop_gained damaging SNU739 Truncating Mutation ABCB8 chr7 150742296 150742296 G C g.150742296G>C ENST00000358849.4 c.2017G>C p.Ala673Pro (Splice) missense_variant,splice_region_variant damaging SNU739 Truncating Mutation PVRIG chr7 99818816 99818817 - CT g.99818816_99818817insCT ENST00000317271.2 c.923_924insCT p.Leu309PhefsX16 frameshift_variant damaging SNU739 Truncating Mutation DPYS chr8 105405062 105405062 G A g.105405062G>A ENST00000351513.2 c.1393C>T p.Arg465X stop_gained damaging SNU739 Truncating Mutation PLEC chr8 145004104 145004104 C T g.145004104C>T ENST00000322810.4 c.3150G>A p.T1050T (Splice) splice_region_variant,synonymous_variant damaging SNU739 Truncating Mutation NR6A1 chr9 127289179 127289179 T G g.127289179T>G ENST00000487099.2 c.1080A>C p.Arg360Ser (Splice) missense_variant,splice_region_variant damaging SNU739 Truncating Mutation ENG chr9 130587555 130587556 - TGGCTGGGCTGTGCCAGGCTGGGAAGTGTCTCCGGAGGCTCCACACCCACCCACACCTGGTAGTTTTGTTCCCAGGTGGGTCTGATGCCAGGAGGATGTGGTTAAGCTCGAGGCCCTGCAGTCTCCTTCCATGCCCGGGGTCAATGGATCCTTATCTGGCAAGATCTTATCTGTGT g.130587555_130587556ins176 ENST00000373203.4 c.770_771insACACAGATAAGATCTTGCCAGATAAGGATCCATTGACCCCGGGCATGGAAGGAGACTGCAGGGCCTCGAGCTTAACCACATCCTCCTGGCATCAGACCCACCTGGGAACAAAACTACCAGGTGTGGGTGGGTGTGGAGCCTCCGGAGACACTTCCCAGCCTGGCACAGCCCAGCCA p.Tyr258HisfsX3 stop_gained,frameshift_variant damaging SNU739 Truncating Mutation PRSS3 chr9 33795613 33795613 C A g.33795613C>A ENST00000379405.3 c.40+2C>A p.? splice_donor_variant damaging SNU739 Truncating Mutation MED12 chrX 70348212 70348212 G A g.70348212G>A ENST00000333646.6 c.3276G>A p.Trp1092X stop_gained damaging SNU761 Truncating Mutation SLC35A3 chr1 100487988 100487989 TA - g.100487989_100487990del ENST00000370155.3 c.935_936del p.Tyr312TrpfsX3 frameshift_variant damaging SNU761 Truncating Mutation PRPF38B chr1 109242268 109242269 - A g.109242273dup ENST00000370025.4 c.1272dup p.His425ThrfsX3 frameshift_variant damaging SNU761 Truncating Mutation SPTA1 chr1 158605733 158605733 C T g.158605733C>T ENST00000368147.4 c.5402G>A p.Trp1801X stop_gained damaging SNU761 Truncating Mutation ATP1A2 chr1 160105626 160105626 C T g.160105626C>T ENST00000361216.3 c.2285-3C>T p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation COLGALT2 chr1 183914697 183914697 C T g.183914697C>T ENST00000361927.4 c.1138G>A p.Ala380Thr (Splice) missense_variant,splice_region_variant damaging SNU761 Truncating Mutation VWA5B1 chr1 20656879 20656879 G A g.20656879G>A ENST00000289815.8 c.1457+4G>A p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation B3GALNT2 chr1 235659622 235659623 - A g.235659622dup ENST00000313984.3 c.113-4dup p.? intron_variant damaging SNU761 Truncating Mutation BLOC1S2 chr10 102046415 102046415 A T g.102046415A>T ENST00000370372.2 c.2T>A p.Met1? start_lost benign SNU761 Truncating Mutation BTRC chr10 103294487 103294488 - G g.103294487dup ENST00000370187.3 c.1167dup p.Arg390AlafsX4 frameshift_variant damaging SNU761 Truncating Mutation BMI1 chr10 22615489 22615489 C G g.22615489C>G ENST00000376663.3 c.111C>G p.S37S (Splice) splice_region_variant,synonymous_variant damaging SNU761 Truncating Mutation PFKP chr10 3151559 3151559 G T g.3151559G>T ENST00000381125.4 c.976G>T p.Gly326X stop_gained damaging SNU761 Truncating Mutation PPP3CB chr10 75198049 75198050 GT - g.75198049_75198050del ENST00000360663.5 c.1525_1526del p.Thr509ArgfsX5 frameshift_variant damaging SNU761 Truncating Mutation HECTD2 chr10 93240857 93240860 AACA - g.93240859_93240862del ENST00000298068.5 c.674_677del p.Thr225LysfsX32 frameshift_variant damaging SNU761 Truncating Mutation KIAA1549L chr11 33680348 33680348 G T g.33680348G>T ENST00000321505.4 c.5020G>T p.Glu1674X stop_gained damaging SNU761 Truncating Mutation AP5B1 chr11 65547914 65547914 T G g.65547914T>G ENST00000532090.2 c.149A>C p.Lys50Thr (Splice) missense_variant,splice_region_variant damaging SNU761 Truncating Mutation UGT2B10 chr4 69885685 69885685 G T g.69885685G>T NA NA NA NA NA SNU761 Truncating Mutation CTTN chr11 70255957 70255958 - CTTATGCCACCCAAGATGATCTGTTAGAAGTCCCCTTAGCTAATCCTGACCTTAACCTATATACTGATGGAAGTTCATTTGTGGAGAATGGGATATGAAGGACAGGTTATGTCATAGTTAGTGATGTAACCATACTTGAAAGTAAGCCTCTTCC g.70255957_70255958ins154 ENST00000376561.3 c.182_183insCTTATGCCACCCAAGATGATCTGTTAGAAGTCCCCTTAGCTAATCCTGACCTTAACCTATATACTGATGGAAGTTCATTTGTGGAGAATGGGATATGAAGGACAGGTTATGTCATAGTTAGTGATGTAACCATACTTGAAAGTAAGCCTCTTCC p.Val62LeufsX6 stop_gained,frameshift_variant damaging SNU761 Truncating Mutation CLEC1B chr12 10149444 10149444 C T g.10149444C>T ENST00000348658.4 c.339+1G>A p.? splice_donor_variant damaging SNU761 Truncating Mutation CHFR chr12 133438223 133438223 G A g.133438223G>A ENST00000266880.7 c.620-3C>T p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation AVPR1A chr12 63541427 63541427 T G g.63541427T>G ENST00000299178.2 c.971-2A>C p.? splice_acceptor_variant damaging SNU761 Truncating Mutation KRR1 chr12 75900344 75900345 - T g.75900344dup ENST00000229214.4 c.439dup p.Ile147AsnfsX8 frameshift_variant damaging SNU761 Truncating Mutation NAV3 chr12 78571465 78571465 G A g.78571465G>A ENST00000397909.2 c.5363G>A p.Arg1788Gln (Splice) missense_variant,splice_region_variant damaging SNU761 Truncating Mutation INF2 chr14 105173858 105173859 - AAATGGATATTTGGAGCGCTTTGAGGCCTGTGGTGAAAAAGGAAATATCTTCACATAACAACCAGACAGAAGCATTCTGGAAACATTTTTGTGATGTGTGCGTTCATCTCACAGAGTTGAACCTTTCTTTTGATTGAGCAGTTTGGAAA g.105173858_105173859ins149 ENST00000392634.4 c.1254_1255insAAATGGATATTTGGAGCGCTTTGAGGCCTGTGGTGAAAAAGGAAATATCTTCACATAACAACCAGACAGAAGCATTCTGGAAACATTTTTGTGATGTGTGCGTTCATCTCACAGAGTTGAACCTTTCTTTTGATTGAGCAGTTTGGAAA p.Ser419LysfsX8 stop_gained,frameshift_variant damaging SNU761 Truncating Mutation TRPM7 chr15 50906316 50906316 A G g.50906316A>G ENST00000313478.7 c.1635+4T>C p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation ZNF785 chr16 30596442 30596442 C G g.30596442C>G ENST00000395216.2 c.334+1G>C p.? splice_donor_variant damaging SNU761 Truncating Mutation MYO15A chr17 18039138 18039138 C T g.18039138C>T ENST00000205890.5 c.4596C>T p.Thr1532Thr (Splice) splice_region_variant,synonymous_variant damaging SNU761 Truncating Mutation TP53 chr17 7576878 7576909 AGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCT - g.7576878_7576909del ENST00000269305.4 c.937_968del p.Ser313GlyfsX13 frameshift_variant damaging SNU761 Truncating Mutation COPE chr19 19030031 19030031 C T g.19030031C>T ENST00000262812.4 c.126+1G>A p.? splice_donor_variant damaging SNU761 Truncating Mutation ZNF780A chr19 40581721 40581721 G A g.40581721G>A ENST00000340963.5 c.628C>T p.Arg210X stop_gained damaging SNU761 Truncating Mutation SIGLEC11 chr19 50463826 50463826 A - g.50463826del ENST00000426971.2 c.443del p.Phe148SerfsX3 frameshift_variant damaging SNU761 Truncating Mutation NLRP13 chr19 56423809 56423809 A T g.56423809A>T ENST00000342929.3 c.1374T>A p.Tyr458X stop_gained damaging SNU761 Truncating Mutation GPR39 chr2 133403040 133403041 - T g.133403043dup ENST00000329321.3 c.1226dup p.Ser411LysfsX12 frameshift_variant damaging SNU761 Truncating Mutation DHRS9 chr2 169938407 169938407 G A g.169938407G>A ENST00000327239.4 c.313+3G>A p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation TTLL4 chr2 219612351 219612351 A - g.219612351del ENST00000258398.4 c.2281del p.Ser761AlafsX38 frameshift_variant damaging SNU761 Truncating Mutation STK16 chr2 220112384 220112384 G A g.220112384G>A ENST00000396738.2 c.562G>A p.Asp188Asn (Splice) missense_variant,splice_region_variant probably damaging SNU761 Truncating Mutation OBSL1 chr2 220430238 220430239 TG - g.220430238_220430239del ENST00000265318.4 c.2135-3_2135-2del p.E712_splice splice_region_variant,intron_variant damaging SNU761 Truncating Mutation MOGAT1 chr2 223554126 223554127 - ATCTTCAC g.223554126_223554127insATCTTCAC ENST00000446656.3 c.416_417insATCTTCAC p.Tyr139X stop_gained,frameshift_variant damaging SNU761 Truncating Mutation UBE2F chr2 238903382 238903382 G A g.238903382G>A ENST00000272930.4 c.149-4G>A p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation PPP1CB chr2 28999852 28999852 T C g.28999852T>C ENST00000296122.6 c.184+4T>C p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation PREPL chr2 44549869 44549869 C A g.44549869C>A ENST00000409411.1 c.1753+1G>T p.? splice_donor_variant damaging SNU761 Truncating Mutation SLC23A2 chr20 4848412 4848412 G T g.4848412G>T ENST00000338244.1 c.1356+4C>A p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation PPM1F chr22 22277521 22277521 G A g.22277521G>A ENST00000263212.5 c.1309C>T p.Gln437X stop_gained damaging SNU761 Truncating Mutation TAMM41 chr3 11850987 11850987 G A g.11850987G>A ENST00000273037.5 c.874+4C>T p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation POC1A chr3 52183866 52183866 G A g.52183866G>A ENST00000296484.2 c.241C>T p.Arg81X stop_gained damaging SNU761 Truncating Mutation TTLL3 chr3 9876871 9876875 AGGTC - g.9876872_9876876del ENST00000426895.4 c.2447_2451del p.Arg816LysfsX11 frameshift_variant damaging SNU761 Truncating Mutation FAT1 chr4 187628640 187628641 - T g.187628640dup ENST00000441802.2 c.2342dup p.Asp781GlufsX3 frameshift_variant damaging SNU761 Truncating Mutation ALB chr4 74274521 74274524 AAGT - g.74274527_74274530del ENST00000295897.4 c.482+5_482+8del p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation ANXA3 chr4 79531211 79531211 C T g.79531211C>T ENST00000264908.6 c.914C>T p.Ser305Leu (Splice) missense_variant,splice_region_variant probably damaging SNU761 Truncating Mutation SLC26A1 chr4 984964 984964 G T g.984964G>T ENST00000361661.2 c.528C>A p.Tyr176X stop_gained damaging SNU761 Truncating Mutation TMCO6 chr5 140023362 140023362 C T g.140023362C>T ENST00000394671.3 c.919-3C>T p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation DDX41 chr5 176939210 176939210 G C g.176939210G>C ENST00000507955.1 c.1622-3C>G p.? splice_region_variant,intron_variant damaging SNU761 Truncating Mutation LRRC70 chr5 61876275 61876276 - T g.61876276dup ENST00000334994.5 c.1011dup p.Thr338TyrfsX9 frameshift_variant damaging SNU761 Truncating Mutation SV2C chr5 75581694 75581694 C T g.75581694C>T ENST00000322285.7 c.1136C>T p.Thr379Met (Splice) missense_variant,splice_region_variant probably damaging SNU761 Truncating Mutation FER1L5 chr2 97369371 97369371 T C g.97369371T>C NM_001113382.1 c.5909+2T>C p.? splice_donor_variant damaging SNU761 Truncating Mutation GPX5 chr6 28499674 28499674 T A g.28499674T>A ENST00000412168.2 c.359+2T>A p.? splice_donor_variant damaging SNU761 Truncating Mutation LRFN2 chr6 40400710 40400710 G - g.40400710del ENST00000338305.6 c.143del p.Pro48LeufsX28 frameshift_variant damaging SNU761 Truncating Mutation PTPRZ1 chr7 121568275 121568275 G T g.121568275G>T ENST00000393386.2 c.124G>T p.Gly42X stop_gained,splice_region_variant damaging SNU761 Truncating Mutation CDK14 chr7 90547038 90547038 C T g.90547038C>T ENST00000380050.3 c.825C>T p.F275F (Splice) splice_region_variant,synonymous_variant damaging SNU761 Truncating Mutation KCP chr7 128522003 128522003 C T g.128522003C>T NM_001135914.1 c.3129G>A p.Thr1043%3D synonymous_variant NA SNU761 Truncating Mutation SCRIB chr8 144894985 144894985 A G g.144894985A>G ENST00000320476.3 c.787+2T>C p.? splice_donor_variant damaging SNU761 Truncating Mutation CCNB3 chrX 50051869 50051869 A - g.50051870del ENST00000276014.7 c.701del p.Lys234ArgfsX33 frameshift_variant damaging SNU878 Truncating Mutation GSTM5 chr1 110260004 110260004 C T g.110260004C>T ENST00000256593.3 c.613C>T p.Arg205X stop_gained damaging SNU878 Truncating Mutation ATP8B2 chr1 154318344 154318345 - G g.154318348dup ENST00000368489.3 c.2866dup p.Val956GlyfsX3 frameshift_variant damaging SNU878 Truncating Mutation PLA2G2C chr1 20499284 20499284 C T g.20499284C>T ENST00000247992.5 c.286+3G>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation RCOR3 chr1 211486999 211486999 T A g.211486999T>A ENST00000367006.4 c.1309T>A p.X437LysextX58 stop_lost NA SNU878 Truncating Mutation EPHA8 chr1 22922669 22922669 G A g.22922669G>A ENST00000166244.3 c.1765+3G>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation TECTB chr10 114046077 114046077 A G g.114046077A>G ENST00000369422.3 c.411A>G p.Arg137Arg (Splice) splice_region_variant,synonymous_variant damaging SNU878 Truncating Mutation ADAM12 chr10 127843878 127843878 C T g.127843878C>T ENST00000368676.4 c.261-4G>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation VIM chr10 17278294 17278294 A C g.17278294A>C ENST00000224237.5 c.1275A>C p.Glu425Asp (Splice) missense_variant,splice_region_variant damaging SNU878 Truncating Mutation CTTN chr11 70281225 70281225 G A g.70281225G>A ENST00000301843.8 c.1610G>A p.Arg537Gln missense_variant possibly damaging SNU878 Truncating Mutation STK33 chr11 8486253 8486253 T C g.8486253T>C ENST00000315204.1 c.453+3A>G p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation PAH chr12 103246593 103246593 G A g.103246593G>A ENST00000553106.1 c.842C>T p.Pro281Leu (Splice) missense_variant,splice_region_variant probably damaging SNU878 Truncating Mutation MYL6B chr12 56548625 56548625 G A g.56548625G>A ENST00000207437.5 c.202+1G>A p.E68_splice splice_donor_variant damaging SNU878 Truncating Mutation ZMYM2 chr13 20635364 20635364 A G g.20635364A>G ENST00000382869.3 c.2911A>G p.Ser971Gly (Splice) missense_variant,splice_region_variant damaging SNU878 Truncating Mutation GPR18 chr13 99907205 99907205 G A g.99907205G>A ENST00000340807.3 c.922C>T p.Arg308X stop_gained damaging SNU878 Truncating Mutation FSIP1 chr15 40031864 40031864 A G g.40031864A>G ENST00000350221.3 c.780+2T>C p.E260_splice splice_donor_variant damaging SNU878 Truncating Mutation SLCO3A1 chr15 92690393 92690393 A G g.92690393A>G ENST00000318445.6 c.1688+4A>G p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation TSC2 chr16 2134999 2134999 C G g.2134999C>G ENST00000219476.3 c.4541C>G p.Ser1514X stop_gained damaging SNU878 Truncating Mutation C17orf66 chr17 34182100 34182101 - T g.34182100dup ENST00000311880.2 c.1680dup p.Gln561ThrfsX7 frameshift_variant damaging SNU878 Truncating Mutation GNA13 chr17 63010826 63010826 G T g.63010826G>T ENST00000439174.2 c.683C>A p.Ser228X stop_gained damaging SNU878 Truncating Mutation NARS chr18 55283050 55283050 T C g.55283050T>C ENST00000256854.5 c.251A>G p.Glu84Gly (Splice) missense_variant,splice_region_variant damaging SNU878 Truncating Mutation ZNF442 chr19 12463929 12463929 C G g.12463929C>G ENST00000242804.4 c.79-1G>C p.D27_splice splice_acceptor_variant damaging SNU878 Truncating Mutation ZNF737 chr19 20728108 20728109 - T g.20728108dup ENST00000427401.4 c.901dup p.Thr301AsnfsX4 frameshift_variant damaging SNU878 Truncating Mutation ZNF446 chr19 58989196 58989196 G A g.58989196G>A ENST00000335841.4 c.532+3G>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation CCDC150 chr2 197584239 197584239 C T g.197584239C>T ENST00000389175.4 c.2014C>T p.Gln672X stop_gained damaging SNU878 Truncating Mutation WDPCP chr2 63713677 63713677 C A g.63713677C>A ENST00000272321.7 c.252G>T p.Glu84Asp (Splice) missense_variant,splice_region_variant possibly damaging SNU878 Truncating Mutation MYLK2 chr20 30409459 30409459 C T g.30409459C>T ENST00000375985.4 c.691C>T p.Gln231X stop_gained damaging SNU878 Truncating Mutation ITPA chr20 3199281 3199281 G T g.3199281G>T ENST00000380113.3 c.411+3G>T p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation CRYBB1 chr22 26995640 26995640 G T g.26995640G>T ENST00000215939.2 c.576-3C>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation MTMR3 chr22 30418128 30418128 G C g.30418128G>C ENST00000401950.2 c.3336G>C p.Glu1112Asp (Splice) missense_variant,splice_region_variant probably damaging SNU878 Truncating Mutation PMM1 chr22 41982123 41982123 A - g.41982123del ENST00000216259.7 c.162del p.Asp55ThrfsX54 frameshift_variant damaging SNU878 Truncating Mutation CPA3 chr3 148597572 148597572 T C g.148597572T>C ENST00000296046.3 c.475-3T>C p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation PKD1L2 chr16 81193369 81193369 C T g.81193369C>T ENST00000525539.1 c.3754G>A p.Val1252Ile missense_variant benign SNU878 Truncating Mutation C5orf42 chr5 37125347 37125347 G A g.37125347G>A ENST00000425232.2 c.8795C>T p.Pro2932Leu (Splice) missense_variant,splice_region_variant probably damaging SNU878 Truncating Mutation ITGA2 chr5 52374602 52374602 A C g.52374602A>C ENST00000296585.5 c.2826A>C p.Arg942Ser (Splice) missense_variant,splice_region_variant probably damaging SNU878 Truncating Mutation ARHGAP18 chr6 129939832 129939832 C T g.129939832C>T ENST00000368149.2 c.952G>A p.Asp318Asn (Splice) missense_variant,splice_region_variant possibly damaging SNU878 Truncating Mutation HLA-DRB1 chr6 32552130 32552131 - AGACGTAGAGTACTCCAAGAAAC g.32552130_32552131ins23 ENST00000360004.5 c.126_127insTTTCTTGGAGTACTCTACGTCTG p.Glu43PhefsX45 frameshift_variant damaging SNU878 Truncating Mutation COL12A1 chr6 75855175 75855175 C T g.75855175C>T ENST00000322507.8 c.4561-4G>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation PVRIG chr7 99818816 99818817 - CT g.99818816_99818817insCT ENST00000317271.2 c.923_924insCT p.Leu309PhefsX16 frameshift_variant damaging SNU878 Truncating Mutation RP1L1 chr8 10480296 10480297 - G g.10480296dup ENST00000382483.3 c.416dup p.Gly140ArgfsX10 frameshift_variant damaging SNU878 Truncating Mutation FUBP3 chr9 133506011 133506011 G A g.133506011G>A ENST00000319725.9 c.1118-4G>A p.? splice_region_variant,intron_variant damaging SNU878 Truncating Mutation TYW1B chr7 72277904 72277904 G A g.72277904G>A ENST00000435769.2 c.478C>T p.Arg160Cys missense_variant probably damaging SNU878 Truncating Mutation FAM9C chrX 13057927 13057927 A G g.13057927A>G ENST00000333995.3 c.438T>C p.I146I (Splice) splice_region_variant,synonymous_variant damaging SNU878 Truncating Mutation DGKK chrX 50213419 50213419 T C g.50213419T>C NM_001013742.2 c.259A>G p.Thr87Ala missense_variant benign SNU886 Truncating Mutation IGFN1 chr1 201177856 201177856 G T g.201177856G>T ENST00000335211.4 c.3835G>T p.Glu1279X stop_gained damaging SNU886 Truncating Mutation PLEKHA6 chr1 204198145 204198145 C A g.204198145C>A ENST00000272203.3 c.2671G>T p.Glu891X stop_gained damaging SNU886 Truncating Mutation RRP15 chr1 218480973 218480973 A G g.218480973A>G ENST00000366932.3 c.704A>G p.Gln235Arg (Splice) missense_variant,splice_region_variant damaging SNU886 Truncating Mutation AKR1A1 chr1 46032578 46032605 TGTGGAACACCAAGCACCACCCCGAGGA - g.46032584_46032611del ENST00000351829.4 c.248_275del p.Asn83SerfsX20 frameshift_variant damaging SNU886 Truncating Mutation SLC44A5 chr1 75684176 75684176 G A g.75684176G>A ENST00000370855.5 c.1528C>T p.Arg510X stop_gained,splice_region_variant damaging SNU886 Truncating Mutation COL17A1 chr10 105800823 105800823 C T g.105800823C>T ENST00000353479.5 c.2701G>A p.Glu901Lys (Splice) missense_variant,splice_region_variant possibly damaging SNU886 Truncating Mutation IDI2 chr10 1068714 1068714 C T g.1068714C>T ENST00000277517.1 c.144G>A p.Gly48Gly (Splice) splice_region_variant,synonymous_variant NA SNU886 Truncating Mutation KIAA1217 chr10 24762835 24762835 C T g.24762835C>T ENST00000376452.3 c.1525C>T p.Gln509X stop_gained damaging SNU886 Truncating Mutation WAPAL chr10 88227032 88227032 C G g.88227032C>G ENST00000298767.5 c.2370+4G>C p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation TRPM5 chr11 2427887 2427887 G T g.2427887G>T ENST00000155858.6 c.3251+4C>A p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation ENDOU chr12 48110670 48110670 C T g.48110670C>T ENST00000422538.3 c.551+3G>A p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation NANOGNB chr12 7926427 7926427 C T g.7926427C>T ENST00000382119.1 c.547C>T p.Arg183X stop_gained damaging SNU886 Truncating Mutation RCBTB1 chr13 50108260 50108260 A G g.50108260A>G ENST00000258646.3 c.1594T>C p.X532ArgextX10 stop_lost damaging SNU886 Truncating Mutation SCEL chr13 78214809 78214809 A G g.78214809A>G ENST00000535157.1 c.1713-2A>G p.R613_splice splice_acceptor_variant damaging SNU886 Truncating Mutation MAX chr14 65551008 65551008 G - g.65551008del NM_001271068.1 c.154del p.Leu52SerfsX15 frameshift_variant damaging SNU886 Truncating Mutation PTGR2 chr14 74327274 74327274 C T g.74327274C>T ENST00000267568.4 c.70C>T p.Arg24X stop_gained damaging SNU886 Truncating Mutation TSC2 chr16 2129160 2129160 C T g.2129160C>T ENST00000219476.3 c.3094C>T p.Arg1032X stop_gained damaging SNU886 Truncating Mutation SETD1A chr16 30982695 30982695 C T g.30982695C>T ENST00000262519.8 c.3017-4C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation FLII chr17 18156858 18156858 G A g.18156858G>A ENST00000327031.4 c.855C>T p.P285P (Splice) splice_region_variant,synonymous_variant damaging SNU886 Truncating Mutation SUPT6H chr17 27028457 27028457 G A g.27028457G>A ENST00000314616.6 c.4995G>A p.K1665K (Splice) splice_region_variant,synonymous_variant damaging SNU886 Truncating Mutation COG1 chr17 71196704 71196704 G A g.71196704G>A ENST00000299886.4 c.1071-1G>A p.M357_splice splice_acceptor_variant damaging SNU886 Truncating Mutation TMEM104 chr17 72791699 72791699 A - g.72791699del ENST00000335464.5 c.564del p.Asp189ThrfsX48 frameshift_variant damaging SNU886 Truncating Mutation TP53 chr17 7578192 7578193 GG - g.7578192_7578193del ENST00000269305.4 c.656_657del p.Pro219LeufsX2 frameshift_variant damaging SNU886 Truncating Mutation PFAS chr17 8168442 8168442 G A g.8168442G>A ENST00000314666.6 c.2279G>A p.Arg760Gln (Splice) missense_variant,splice_region_variant damaging SNU886 Truncating Mutation RNF165 chr18 44036479 44036479 C T g.44036479C>T ENST00000269439.7 c.924-3C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation CLIP3 chr19 36517170 36517170 G - g.36517170del ENST00000360535.4 c.563-3del p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation TNNI3 chr19 55665578 55665578 G C g.55665578G>C ENST00000344887.5 c.373-4C>G p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation ADAMTS10 chr19 8669941 8669941 G A g.8669941G>A ENST00000270328.4 c.391C>T p.Gln131X stop_gained damaging SNU886 Truncating Mutation ERCC3 chr2 128038205 128038205 T A g.128038205T>A ENST00000285398.2 c.1345A>T p.Lys449X stop_gained,splice_region_variant damaging SNU886 Truncating Mutation MMP12 chr11 102743714 102743714 C - g.102743714del NM_002426.4 c.231del p.Gln78AsnfsX9 frameshift_variant damaging SNU886 Truncating Mutation URB1 chr21 33750854 33750854 G A g.33750854G>A ENST00000382751.3 c.568-4C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation MEI1 chr22 42119945 42119945 A C g.42119945A>C ENST00000401548.3 c.734-2A>C p.G245_splice splice_acceptor_variant damaging SNU886 Truncating Mutation RBP2 chr3 139195250 139195250 C A g.139195250C>A ENST00000232217.2 c.52G>T p.Glu18X stop_gained damaging SNU886 Truncating Mutation PLD1 chr3 171360630 171360630 G A g.171360630G>A ENST00000340989.4 c.2593C>T p.Leu865Phe (Splice) missense_variant,splice_region_variant damaging SNU886 Truncating Mutation KNG1 chr3 186449421 186449421 A G g.186449421A>G ENST00000265023.4 c.757+3A>G p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation IL17RE chr3 9957366 9957376 GACGCGCGGCC - g.9957366_9957376del ENST00000295980.3 c.1879_1889del p.Asp627PhefsX62 frameshift_variant damaging SNU886 Truncating Mutation APBB3 chr5 139938238 139938238 G A g.139938238G>A ENST00000357560.4 c.1393C>T p.Arg465X stop_gained damaging SNU886 Truncating Mutation GRIA1 chr5 153085253 153085253 T C g.153085253T>C ENST00000285900.5 c.1453-4T>C p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation PLEKHG4B chr5 174051 174052 AC - g.174052_174053del ENST00000283426.6 c.3173_3174del p.Thr1058ArgfsX11 frameshift_variant damaging SNU886 Truncating Mutation EGFLAM chr5 38427131 38427131 C T g.38427131C>T ENST00000322350.5 c.1831C>T p.Gln611X stop_gained damaging SNU886 Truncating Mutation C5orf34 chr5 43508741 43508741 G A g.43508741G>A ENST00000306862.2 c.223C>T p.Arg75X stop_gained damaging SNU886 Truncating Mutation MAST4 chr5 66462581 66462582 - G g.66462583dup ENST00000403625.2 c.7576dup p.Val2526GlyfsX49 frameshift_variant damaging SNU886 Truncating Mutation CMYA5 chr5 79033525 79033525 T G g.79033525T>G ENST00000446378.2 c.8937T>G p.Tyr2979X stop_gained damaging SNU886 Truncating Mutation T chr6 166579190 166579190 T A g.166579190T>A ENST00000296946.2 c.606+4A>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation COL9A1 chr6 70993526 70993526 G A g.70993526G>A ENST00000357250.6 c.697-3C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation PLK1S1 chr20 21209693 21209693 A G g.21209693A>G NA NA NA NA possibly damaging SNU886 Truncating Mutation SLC26A4 chr7 107323901 107323901 C T g.107323901C>T ENST00000265715.3 c.920C>T p.Thr307Met (Splice) missense_variant,splice_region_variant probably damaging SNU886 Truncating Mutation AGAP3 chr7 150815430 150815430 C T g.150815430C>T ENST00000397238.2 c.840C>T p.Asp280%3D (Splice) splice_region_variant,synonymous_variant damaging SNU886 Truncating Mutation ZAN chr7 100355879 100355879 G A g.100355879G>A ENST00000348028.3 c.3364G>A p.Gly1122Ser missense_variant probably damaging SNU886 Truncating Mutation ABCB4 chr7 87038658 87038658 G T g.87038658G>T ENST00000265723.4 c.2975C>A p.Ser992X stop_gained damaging SNU886 Truncating Mutation PVRIG chr7 99818816 99818817 - CT g.99818816_99818817insCT ENST00000317271.2 c.923_924insCT p.Leu309PhefsX16 frameshift_variant damaging SNU886 Truncating Mutation SPAG1 chr8 101245764 101245764 A T g.101245764A>T ENST00000251809.3 c.2114A>T p.Lys705Met (Splice) missense_variant,splice_region_variant probably damaging SNU886 Truncating Mutation RP1L1 chr8 10470860 10470860 G A g.10470860G>A ENST00000382483.3 c.752-4C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation KCP chr7 128522001 128522001 C T g.128522001C>T NM_001135914.1 c.3131G>A p.Cys1044Tyr missense_variant probably damaging SNU886 Truncating Mutation KIAA0368 chr9 114190319 114190319 T C g.114190319T>C ENST00000259335.4 c.1584+3A>G p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation NUP188 chr9 131745752 131745752 G T g.131745752G>T ENST00000372577.2 c.1885-1G>T p.V629_splice splice_acceptor_variant damaging SNU886 Truncating Mutation DOLPP1 chr9 131847483 131847483 C T g.131847483C>T ENST00000372546.4 c.263-3C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation EHMT1 chr9 140728980 140728980 C T g.140728980C>T ENST00000460843.1 c.3716+4C>T p.? splice_region_variant,intron_variant damaging SNU886 Truncating Mutation RLN2 chr9 5304578 5304578 C A g.5304578C>A ENST00000308420.3 c.3G>T p.Met1? start_lost benign SNU886 Truncating Mutation OFD1 chrX 13785323 13785323 A T g.13785323A>T ENST00000340096.6 c.2677A>T p.Arg893X stop_gained damaging SNU886 Truncating Mutation PLXNB3 chrX 153031667 153031667 T C g.153031667T>C ENST00000538966.1 c.2T>C p.Met1? start_lost benign SNU886 Truncating Mutation GLOD5 chrX 48631801 48631801 C T g.48631801C>T ENST00000303227.6 c.433C>T p.Arg145X stop_gained damaging MHCC97H Truncating Mutation VAV3 chr1 108138962 108138962 T C g.108138962T>C ENST00000370056.4 c.2222A>G p.Glu741Gly (Splice) missense_variant,splice_region_variant damaging MHCC97H Truncating Mutation DCST2 chr1 155001811 155001811 G A g.155001811G>A ENST00000295536.5 c.1240C>T p.Arg414X stop_gained damaging MHCC97H Truncating Mutation CNST chr1 246805073 246805073 G T g.246805073G>T ENST00000366512.3 c.840+1G>T p.K280_splice splice_donor_variant damaging MHCC97H Truncating Mutation WNT8B chr10 102242536 102242537 - G g.102242542dup ENST00000343737.5 c.1025dup p.Ala343ArgfsX35 frameshift_variant damaging MHCC97H Truncating Mutation KCNK18 chr10 118957226 118957226 G C g.118957226G>C ENST00000334549.1 c.223+4G>C p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation SVIL chr10 29773582 29773582 T A g.29773582T>A ENST00000375400.3 c.3677+3A>T p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation IL2RA chr10 6067868 6067868 G T g.6067868G>T ENST00000256876.6 c.185C>A p.Ser62X stop_gained damaging MHCC97H Truncating Mutation MOB2 chr11 1501623 1501623 G A g.1501623G>A ENST00000329957.6 c.365C>T p.Thr122Ile (Splice) missense_variant,splice_region_variant probably damaging MHCC97H Truncating Mutation C1QTNF4 chr11 47612314 47612330 GGGCCCAGCAGGCCGCT - g.47612314_47612330del ENST00000302514.3 c.33_49del p.Ala12GlyfsX10 frameshift_variant damaging MHCC97H Truncating Mutation SLC22A12 chr11 64359177 64359177 G - g.64359179del ENST00000336464.7 c.151del p.Ala51HisfsX14 frameshift_variant damaging MHCC97H Truncating Mutation ZMYM2 chr13 20641160 20641378 GTAAGTGTTTTAATTTTGTTTCTCCTAAGTCCTATTTAAAATCAAGATTTCTGTTATTGAGTACCTTTAAATTTAAAAAACATAAATGTAACTTAAAATACCTGTAAGAATGCATTTTATTTTACTTCAGAGCTCTTACAAAGAATAACGTCAGAAAGTTTCTTAACCTTAATAAGACGCTAAATAATAACAATTATTTTTTATTTTATGTATTTTTAG - g.20641160_20641378del ENST00000382869.3 c.3301+1_3302-1del p.Ser1101_splice splice_acceptor_variant,splice_donor_variant,intron_variant damaging MHCC97H Truncating Mutation EPSTI1 chr13 43462416 43462416 G C g.43462416G>C ENST00000313640.7 c.1203C>G p.Tyr401X stop_gained damaging MHCC97H Truncating Mutation CAB39L chr13 49925052 49925052 A C g.49925052A>C ENST00000347776.5 c.396-4T>G p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation ALKBH1 chr14 78140295 78140295 G A g.78140295G>A ENST00000216489.3 c.1030C>T p.Arg344X stop_gained damaging MHCC97H Truncating Mutation UNC79 chr14 94173051 94173051 A G g.94173051A>G ENST00000256339.4 c.7178A>G p.His2393Arg (Splice) missense_variant,splice_region_variant damaging MHCC97H Truncating Mutation RHBDF1 chr16 113799 113799 C G g.113799C>G ENST00000262316.6 c.249-1G>C p.R83_splice splice_acceptor_variant damaging MHCC97H Truncating Mutation C16orf96 chr16 4625323 4625323 G A g.4625323G>A ENST00000444310.4 c.842G>A p.Trp281X stop_gained damaging MHCC97H Truncating Mutation KEAP1 chr19 10600521 10600521 G - g.10600521del ENST00000171111.5 c.1334del p.Pro445GlnfsX13 frameshift_variant damaging MHCC97H Truncating Mutation PLEKHG2 chr19 39906069 39906069 G T g.39906069G>T ENST00000378550.1 c.469G>T p.Glu157X stop_gained damaging MHCC97H Truncating Mutation POLRMT chr19 617658 617658 G A g.617658G>A ENST00000588649.2 c.3496-3C>T p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation TRIP10 chr19 6751220 6751220 T G g.6751220T>G ENST00000313285.8 c.1636T>G p.X546GlyextX99 stop_lost damaging MHCC97H Truncating Mutation FAP chr2 163044870 163044870 A C g.163044870A>C ENST00000188790.4 c.1623T>G p.Tyr541X stop_gained damaging MHCC97H Truncating Mutation TTN chr2 179544111 179544126 CTTTCTCCTCTGGCTT - g.179544111_179544126del ENST00000591111.1 c.32731_32746del p.Lys10911PhefsX111 frameshift_variant damaging MHCC97H Truncating Mutation TP53 chr17 7579536 7579536 C A g.7579536C>A ENST00000269305.4 c.151G>T p.Glu51X stop_gained damaging MHCC97H Truncating Mutation CTCFL chr20 56093814 56093814 C A g.56093814C>A ENST00000243914.3 c.1059G>T p.Glu353Asp (Splice) missense_variant,splice_region_variant probably damaging MHCC97H Truncating Mutation KIAA1407 chr3 113737653 113737654 - C g.113737653dup ENST00000295878.3 c.1035dup p.Lys346GlufsX7 frameshift_variant damaging MHCC97H Truncating Mutation TTC21A chr3 39162617 39162617 G T g.39162617G>T ENST00000301819.6 c.1054G>T p.Glu352X stop_gained damaging MHCC97H Truncating Mutation CACNA2D2 chr3 50513629 50513629 T C g.50513629T>C ENST00000266039.3 c.208A>G p.Met70Val (Splice) missense_variant,splice_region_variant damaging MHCC97H Truncating Mutation CORIN chr4 47839959 47839960 - T g.47839959dup ENST00000273857.4 c.8dup p.Ser4ValfsX23 frameshift_variant damaging MHCC97H Truncating Mutation CMBL chr5 10282309 10282309 G A g.10282309G>A ENST00000296658.3 c.558C>T p.D186D (Splice) splice_region_variant,synonymous_variant damaging MHCC97H Truncating Mutation SLC22A4 chr5 131630361 131630371 CAGCGCCTCAT - g.131630362_131630372del ENST00000200652.3 c.53_63del p.Gln18LeufsX116 frameshift_variant damaging MHCC97H Truncating Mutation C5orf42 chr5 37183289 37183289 G T g.37183289G>T ENST00000425232.2 c.4994C>A p.Ser1665X stop_gained damaging MHCC97H Truncating Mutation EGFLAM chr5 38438375 38438376 AG - g.38438376_38438377del ENST00000322350.5 c.2284-1_2284del p.Ile762_splice splice_acceptor_variant damaging MHCC97H Truncating Mutation ANKRD31 chr5 74433826 74433827 - A g.74433826dup ENST00000274361.3 c.3563-3dup p.? intron_variant damaging MHCC97H Truncating Mutation NUS1 chr6 118024767 118024767 G A g.118024767G>A ENST00000368494.3 c.692-1G>A p.Ser231_splice splice_acceptor_variant damaging MHCC97H Truncating Mutation FGFR1OP chr6 167446090 167446090 G C g.167446090G>C ENST00000366847.4 c.989-1G>C p.Gly330_splice splice_acceptor_variant damaging MHCC97H Truncating Mutation XRCC2 chr7 152346452 152346452 T A g.152346452T>A ENST00000359321.1 c.122-4A>T p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation ZNF716 chr7 57529104 57529105 - A g.57529105dup ENST00000420713.1 c.938dup p.Asn313LysfsX15 frameshift_variant damaging MHCC97H Truncating Mutation DLC1 chr8 12952592 12952592 C T g.12952592C>T ENST00000520226.1 c.1794+3G>A p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation DPY19L4 chr8 95778913 95778913 A G g.95778913A>G ENST00000414645.2 c.1175A>G p.Lys392Arg (Splice) missense_variant,splice_region_variant probably damaging MHCC97H Truncating Mutation FIBCD1 chr9 133805437 133805437 C T g.133805437C>T ENST00000372338.4 c.73-4G>A p.? splice_region_variant,intron_variant damaging MHCC97H Truncating Mutation C9orf173 chr9 140147670 140147670 C T g.140147670C>T ENST00000388931.3 c.916C>T p.Arg306X stop_gained damaging MHCC97H Truncating Mutation PHF2 chr9 96421791 96421791 A G g.96421791A>G ENST00000359246.4 c.1240-2A>G p.Ala414_splice splice_acceptor_variant damaging MHCC97H Truncating Mutation PHKA1 chrX 71870239 71870239 C T g.71870239C>T ENST00000339490.3 c.1324+1G>A p.Val442_splice splice_donor_variant damaging HepG2 Focal_Amplification CNA MIR3680-1 HepG2 Focal_Amplification CNA MIR3680-2 HepG2 Focal_Amplification CNA OTOA HepG2 Focal_Amplification CNA LINC00317 HepG2 Focal_Amplification CNA GLIDR Hep3B Focal_Amplification CNA LRP5 Hep3B Focal_Amplification CNA IGHMBP2 Hep3B Focal_Amplification CNA TPCN2 Hep3B Focal_Amplification CNA MYEOV Hep3B Focal_Amplification CNA ANO1 Hep3B Focal_Amplification CNA KDM2A Hep3B Focal_Amplification CNA OR4F5 Hep3B Focal_Amplification CNA TNFAIP8L1 Hep3B Focal_Amplification CNA MIR7-3 Hep3B Focal_Amplification CNA FEM1A Hep3B Focal_Amplification CNA GLIDR Hep3B Focal_Amplification CNA GAL3ST3 Hep3B Focal_Amplification CNA SF3B2 Hep3B Focal_Amplification CNA PACS1 Hep3B Focal_Amplification CNA KLC2 Hep3B Focal_Amplification CNA RAB1B Hep3B Focal_Amplification CNA CNIH2 Hep3B Focal_Amplification CNA YIF1A Hep3B Focal_Amplification CNA TMEM151A Hep3B Focal_Amplification CNA CD248 Hep3B Focal_Amplification CNA RIN1 Hep3B Focal_Amplification CNA BRMS1 Hep3B Focal_Amplification CNA B4GAT1 Hep3B Focal_Amplification CNA SLC29A2 Hep3B Focal_Amplification CNA NPAS4 Hep3B Focal_Amplification CNA MRPL11 Hep3B Focal_Amplification CNA PELI3 Hep3B Focal_Amplification CNA LOC101928069 Hep3B Focal_Amplification CNA DPP3 Hep3B Focal_Amplification CNA BBS1 Hep3B Focal_Amplification CNA ZDHHC24 Hep3B Focal_Amplification CNA ACTN3 Hep3B Focal_Amplification CNA CTSF Hep3B Focal_Amplification CNA CCDC87 Hep3B Focal_Amplification CNA CCS Hep3B Focal_Amplification CNA RBM14 Hep3B Focal_Amplification CNA RBM14-RBM4 Hep3B Focal_Amplification CNA RBM4 Hep3B Focal_Amplification CNA RBM4B Hep3B Focal_Amplification CNA SPTBN2 Hep3B Focal_Amplification CNA C11orf80 Hep3B Focal_Amplification CNA RCE1 Hep3B Focal_Amplification CNA PC Hep3B Focal_Amplification CNA LRFN4 Hep3B Focal_Amplification CNA C11orf86 Hep3B Focal_Amplification CNA SYT12 Hep3B Focal_Amplification CNA MIR6860 Hep3B Focal_Amplification CNA RHOD Hep3B Focal_Amplification CNA ADRBK1 Hep3B Focal_Amplification CNA ANKRD13D Hep3B Focal_Amplification CNA SSH3 Hep3B Focal_Amplification CNA LOC100130987 Hep3B Focal_Amplification CNA POLD4 Hep3B Focal_Amplification CNA CLCF1 Hep3B Focal_Amplification CNA RAD9A Hep3B Focal_Amplification CNA PPP1CA Hep3B Focal_Amplification CNA TBC1D10C Hep3B Focal_Amplification CNA CARNS1 Hep3B Focal_Amplification CNA RPS6KB2 Hep3B Focal_Amplification CNA PTPRCAP Hep3B Focal_Amplification CNA CORO1B Hep3B Focal_Amplification CNA GPR152 Hep3B Focal_Amplification CNA CABP4 Hep3B Focal_Amplification CNA TMEM134 Hep3B Focal_Amplification CNA AIP Hep3B Focal_Amplification CNA MIR6752 Hep3B Focal_Amplification CNA PITPNM1 Hep3B Focal_Amplification CNA CDK2AP2 Hep3B Focal_Amplification CNA CABP2 Hep3B Focal_Amplification CNA GSTP1 Hep3B Focal_Amplification CNA C11orf72 Hep3B Focal_Amplification CNA NDUFV1 Hep3B Focal_Amplification CNA DOC2GP Hep3B Focal_Amplification CNA NUDT8 Hep3B Focal_Amplification CNA TBX10 Hep3B Focal_Amplification CNA ACY3 Hep3B Focal_Amplification CNA ALDH3B2 Hep3B Focal_Amplification CNA FAM86C2P Hep3B Focal_Amplification CNA UNC93B1 Hep3B Focal_Amplification CNA ALDH3B1 Hep3B Focal_Amplification CNA NDUFS8 Hep3B Focal_Amplification CNA MIR7113 Hep3B Focal_Amplification CNA TCIRG1 Hep3B Focal_Amplification CNA MIR6753 Hep3B Focal_Amplification CNA CHKA Hep3B Focal_Amplification CNA KMT5B Hep3B Focal_Amplification CNA C11orf24 Hep3B Focal_Amplification CNA PPP6R3 Hep3B Focal_Amplification CNA GAL Hep3B Focal_Amplification CNA MTL5 Hep3B Focal_Amplification CNA CPT1A Hep3B Focal_Amplification CNA MRPL21 Hep3B Focal_Amplification CNA MRGPRD Hep3B Focal_Amplification CNA MRGPRF Hep3B Focal_Amplification CNA MRGPRF-AS1 Hep3B Focal_Amplification CNA MIR3164 Hep3B Focal_Amplification CNA LOC338694 Hep3B Focal_Amplification CNA LOC102724265 Hep3B Focal_Amplification CNA LINC01488 Hep3B Focal_Amplification CNA LOC101928443 Hep3B Focal_Amplification CNA ANO1-AS2 Hep3B Focal_Amplification CNA FADD Hep3B Focal_Amplification CNA PPFIA1 Hep3B Focal_Amplification CNA CTTN HepaRG Focal_Amplification CNA FAM90A2P HepaRG Focal_Amplification CNA FAM66A HepaRG Focal_Amplification CNA TCEB3CL HepaRG Focal_Amplification CNA TCEB3C HepaRG Focal_Amplification CNA PRSS3P2 B1 Focal_Amplification CNA LINC00641 B1 Focal_Amplification CNA LINC00641 B1 Focal_Amplification CNA OR4E1 B1 Focal_Amplification CNA PTCSC3 HCC-1.2 Focal_Amplification CNA LRP5 HCC-1.2 Focal_Amplification CNA MYEOV HCC-1.2 Focal_Amplification CNA ORAOV1 HCC-1.2 Focal_Amplification CNA FGF4 HCC-1.2 Focal_Amplification CNA FGF3 HCC-1.2 Focal_Amplification CNA ANO1 HCC-1.2 Focal_Amplification CNA ITK HCC-1.2 Focal_Amplification CNA EBF1 HCC-1.2 Focal_Amplification CNA RNF145 HCC-1.2 Focal_Amplification CNA PWWP2A HCC-1.2 Focal_Amplification CNA ATP10B HCC-1.2 Focal_Amplification CNA KDM2A HCC-1.2 Focal_Amplification CNA CCND1 HCC-1.2 Focal_Amplification CNA FGF19 HCC-1.2 Focal_Amplification CNA LINC00317 HCC-1.2 Focal_Amplification CNA RHOD HCC-1.2 Focal_Amplification CNA ADRBK1 HCC-1.2 Focal_Amplification CNA ANKRD13D HCC-1.2 Focal_Amplification CNA SSH3 HCC-1.2 Focal_Amplification CNA LOC100130987 HCC-1.2 Focal_Amplification CNA POLD4 HCC-1.2 Focal_Amplification CNA CLCF1 HCC-1.2 Focal_Amplification CNA RAD9A HCC-1.2 Focal_Amplification CNA PPP1CA HCC-1.2 Focal_Amplification CNA TBC1D10C HCC-1.2 Focal_Amplification CNA CARNS1 HCC-1.2 Focal_Amplification CNA RPS6KB2 HCC-1.2 Focal_Amplification CNA PTPRCAP HCC-1.2 Focal_Amplification CNA CORO1B HCC-1.2 Focal_Amplification CNA GPR152 HCC-1.2 Focal_Amplification CNA CABP4 HCC-1.2 Focal_Amplification CNA TMEM134 HCC-1.2 Focal_Amplification CNA AIP HCC-1.2 Focal_Amplification CNA MIR6752 HCC-1.2 Focal_Amplification CNA PITPNM1 HCC-1.2 Focal_Amplification CNA CDK2AP2 HCC-1.2 Focal_Amplification CNA CABP2 HCC-1.2 Focal_Amplification CNA GSTP1 HCC-1.2 Focal_Amplification CNA C11orf72 HCC-1.2 Focal_Amplification CNA NDUFV1 HCC-1.2 Focal_Amplification CNA DOC2GP HCC-1.2 Focal_Amplification CNA NUDT8 HCC-1.2 Focal_Amplification CNA TBX10 HCC-1.2 Focal_Amplification CNA ACY3 HCC-1.2 Focal_Amplification CNA ALDH3B2 HCC-1.2 Focal_Amplification CNA FAM86C2P HCC-1.2 Focal_Amplification CNA UNC93B1 HCC-1.2 Focal_Amplification CNA ALDH3B1 HCC-1.2 Focal_Amplification CNA NDUFS8 HCC-1.2 Focal_Amplification CNA MIR7113 HCC-1.2 Focal_Amplification CNA TCIRG1 HCC-1.2 Focal_Amplification CNA MIR6753 HCC-1.2 Focal_Amplification CNA CHKA HCC-1.2 Focal_Amplification CNA C11orf24 HCC-1.2 Focal_Amplification CNA LOC102724265 HCC-1.2 Focal_Amplification CNA LINC01488 HCC-1.2 Focal_Amplification CNA LOC101928443 HCC-1.2 Focal_Amplification CNA ANO1-AS2 HCC-1.2 Focal_Amplification CNA FADD HCC-1.2 Focal_Amplification CNA PPFIA1 HCC-1.2 Focal_Amplification CNA MIR548K HCC-1.2 Focal_Amplification CNA CTTN HCC-1.2 Focal_Amplification CNA SHANK2 HCC-1.2 Focal_Amplification CNA MIR4435-1 HCC-1.2 Focal_Amplification CNA MIR4435-2 HCC-1.2 Focal_Amplification CNA TRIM64B HCC-1.2 Focal_Amplification CNA TRIM49C HCC-1.2 Focal_Amplification CNA PMS2P1 HCC-1.2 Focal_Amplification CNA LINC01007 HCC-1.2 Focal_Amplification CNA LHFPL3-AS1 HCC-1.2 Focal_Amplification CNA KMT2E-AS1 HCC-1.2 Focal_Amplification CNA TIMD4 HCC-1.2 Focal_Amplification CNA HAVCR1 HCC-1.2 Focal_Amplification CNA HAVCR2 HCC-1.2 Focal_Amplification CNA MED7 HCC-1.2 Focal_Amplification CNA FAM71B HCC-1.2 Focal_Amplification CNA CYFIP2 HCC-1.2 Focal_Amplification CNA FNDC9 HCC-1.2 Focal_Amplification CNA NIPAL4 HCC-1.2 Focal_Amplification CNA ADAM19 HCC-1.2 Focal_Amplification CNA SOX30 HCC-1.2 Focal_Amplification CNA C5orf52 HCC-1.2 Focal_Amplification CNA THG1L HCC-1.2 Focal_Amplification CNA LSM11 HCC-1.2 Focal_Amplification CNA CLINT1 HCC-1.2 Focal_Amplification CNA LOC101927697 HCC-1.2 Focal_Amplification CNA LOC101927740 HCC-1.2 Focal_Amplification CNA LOC105377682 HCC-1.2 Focal_Amplification CNA UBLCP1 HCC-1.2 Focal_Amplification CNA IL12B HCC-1.2 Focal_Amplification CNA LOC285626 HCC-1.2 Focal_Amplification CNA LOC285627 HCC-1.2 Focal_Amplification CNA LOC101927766 HCC-1.2 Focal_Amplification CNA ADRA1B HCC-1.2 Focal_Amplification CNA TTC1 HCC-1.2 Focal_Amplification CNA FABP6 HCC-1.2 Focal_Amplification CNA CCNJL HCC-1.2 Focal_Amplification CNA C1QTNF2 HCC-1.2 Focal_Amplification CNA ZBED8 HCC-1.2 Focal_Amplification CNA SLU7 HCC-1.2 Focal_Amplification CNA PTTG1 HCC-1.2 Focal_Amplification CNA MIR3142HG HCC-1.2 Focal_Amplification CNA MIR3142 HCC-1.2 Focal_Amplification CNA MIR146A HCC-1.2 Focal_Amplification CNA LOC101928314 HCC-1.2 Focal_Amplification CNA LOC255654 HCC-1.2 Focal_Amplification CNA LINC01341 HCC-3 Focal_Amplification CNA LINC00115 HCC-3 Focal_Amplification CNA FAM41C HCC-3 Focal_Amplification CNA LOC100130417 HCC-3 Focal_Amplification CNA NADK HCC-3 Focal_Amplification CNA LOC100996583 HCC-3 Focal_Amplification CNA LINC01134 HCC-3 Focal_Amplification CNA TCEB3CL HCC-3 Focal_Amplification CNA TCEB3C HCC-3 Focal_Amplification CNA MTRNR2L6 HCC-3 Focal_Amplification CNA PRSS3P2 HCC-1.1 Focal_Amplification CNA VCX3B HCC-1.1 Focal_Amplification CNA LINC00528 HCC-1.1 Focal_Amplification CNA DGCR9 HCC-1.1 Focal_Amplification CNA LINC01311 HCC-1.1 Focal_Amplification CNA TMEM191A HCC-1.1 Focal_Amplification CNA POM121L1P HCC-1.1 Focal_Amplification CNA POM121L9P HCC-1.1 Focal_Amplification CNA BCRP3 HCC-1.1 Focal_Amplification CNA HLA-DRB5 HCC-1.1 Focal_Amplification CNA PTENP1-AS HCC-1.1 Focal_Amplification CNA LINC01251 HCC-1.1 Focal_Amplification CNA DNAJB5-AS1 HCC-1.1 Focal_Amplification CNA LINC00950 HCC-1.1 Focal_Amplification CNA FAM95C HCC-1.1 Focal_Amplification CNA GLIDR HCC-1.1 Focal_Amplification CNA FAM74A7 HCC-1.1 Focal_Amplification CNA SPATA31A6 HCC-1.1 Focal_Amplification CNA MTRNR2L6 HCC-1.1 Focal_Amplification CNA PRSS3P2 SNU182 Focal_Amplification CNA MAP2K4 SNU182 Focal_Amplification CNA ZRSR2 SNU182 Focal_Amplification CNA NCOR1 SNU182 Focal_Amplification CNA FLCN SNU182 Focal_Amplification CNA SPECC1 SNU182 Focal_Amplification CNA RPS6KA3 SNU182 Focal_Amplification CNA LZTR1 SNU182 Focal_Amplification CNA MAPK1 SNU182 Focal_Amplification CNA FUS SNU182 Focal_Amplification CNA ITGAD SNU182 Focal_Amplification CNA IL7R SNU182 Focal_Amplification CNA SHISA6 SNU182 Focal_Amplification CNA DNAH9 SNU182 Focal_Amplification CNA ZNF18 SNU182 Focal_Amplification CNA LINC00670 SNU182 Focal_Amplification CNA MYOCD SNU182 Focal_Amplification CNA LOC101928418 SNU182 Focal_Amplification CNA LOC100128006 SNU182 Focal_Amplification CNA ARHGAP44 SNU182 Focal_Amplification CNA ELAC2 SNU182 Focal_Amplification CNA HS3ST3A1 SNU182 Focal_Amplification CNA CDRT15P1 SNU182 Focal_Amplification CNA COX10-AS1 SNU182 Focal_Amplification CNA COX10 SNU182 Focal_Amplification CNA CDRT15 SNU182 Focal_Amplification CNA HS3ST3B1 SNU182 Focal_Amplification CNA MGC12916 SNU182 Focal_Amplification CNA GLRA2 SNU182 Focal_Amplification CNA FANCB SNU182 Focal_Amplification CNA MOSPD2 SNU182 Focal_Amplification CNA CDRT8 SNU182 Focal_Amplification CNA PMP22 SNU182 Focal_Amplification CNA TEKT3 SNU182 Focal_Amplification CNA ASB9 SNU182 Focal_Amplification CNA ASB11 SNU182 Focal_Amplification CNA PIGA SNU182 Focal_Amplification CNA CDRT4 SNU182 Focal_Amplification CNA TVP23C-CDRT4 SNU182 Focal_Amplification CNA FIGF SNU182 Focal_Amplification CNA PIR-FIGF SNU182 Focal_Amplification CNA PIR SNU182 Focal_Amplification CNA TVP23C SNU182 Focal_Amplification CNA CDRT1 SNU182 Focal_Amplification CNA BMX SNU182 Focal_Amplification CNA TRIM16 SNU182 Focal_Amplification CNA ACE2 SNU182 Focal_Amplification CNA GS1-594A7.3 SNU182 Focal_Amplification CNA TBC1D26 SNU182 Focal_Amplification CNA TMEM27 SNU182 Focal_Amplification CNA CDRT15P2 SNU182 Focal_Amplification CNA MEIS3P1 SNU182 Focal_Amplification CNA CA5BP1 SNU182 Focal_Amplification CNA LOC101928567 SNU182 Focal_Amplification CNA CA5B SNU182 Focal_Amplification CNA INE2 SNU182 Focal_Amplification CNA AP1S2 SNU182 Focal_Amplification CNA ADORA2B SNU182 Focal_Amplification CNA ZSWIM7 SNU182 Focal_Amplification CNA TTC19 SNU182 Focal_Amplification CNA PIGL SNU182 Focal_Amplification CNA GRPR SNU182 Focal_Amplification CNA MIR1288 SNU182 Focal_Amplification CNA MAGEB17 SNU182 Focal_Amplification CNA CENPV SNU182 Focal_Amplification CNA UBB SNU182 Focal_Amplification CNA TRPV2 SNU182 Focal_Amplification CNA LRRC75A-AS1 SNU182 Focal_Amplification CNA SNORD49B SNU182 Focal_Amplification CNA SNORD49A SNU182 Focal_Amplification CNA SNORD65 SNU182 Focal_Amplification CNA LRRC75A SNU182 Focal_Amplification CNA ZNF287 SNU182 Focal_Amplification CNA ZNF624 SNU182 Focal_Amplification CNA CTPS2 SNU182 Focal_Amplification CNA S100G SNU182 Focal_Amplification CNA USP32P1 SNU182 Focal_Amplification CNA FAM106CP SNU182 Focal_Amplification CNA SYAP1 SNU182 Focal_Amplification CNA TXLNG SNU182 Focal_Amplification CNA TNFRSF13B SNU182 Focal_Amplification CNA RBBP7 SNU182 Focal_Amplification CNA MPRIP SNU182 Focal_Amplification CNA REPS2 SNU182 Focal_Amplification CNA PLD6 SNU182 Focal_Amplification CNA COPS3 SNU182 Focal_Amplification CNA NT5M SNU182 Focal_Amplification CNA MED9 SNU182 Focal_Amplification CNA NHS SNU182 Focal_Amplification CNA RASD1 SNU182 Focal_Amplification CNA PEMT SNU182 Focal_Amplification CNA NHS-AS1 SNU182 Focal_Amplification CNA SMCR2 SNU182 Focal_Amplification CNA RAI1 SNU182 Focal_Amplification CNA RAI1-AS1 SNU182 Focal_Amplification CNA SMCR5 SNU182 Focal_Amplification CNA SREBF1 SNU182 Focal_Amplification CNA TOM1L2 SNU182 Focal_Amplification CNA SCML1 SNU182 Focal_Amplification CNA RAI2 SNU182 Focal_Amplification CNA DRC3 SNU182 Focal_Amplification CNA ATPAF2 SNU182 Focal_Amplification CNA GID4 SNU182 Focal_Amplification CNA DRG2 SNU182 Focal_Amplification CNA MYO15A SNU182 Focal_Amplification CNA ALKBH5 SNU182 Focal_Amplification CNA LLGL1 SNU182 Focal_Amplification CNA FLII SNU182 Focal_Amplification CNA MIEF2 SNU182 Focal_Amplification CNA TOP3A SNU182 Focal_Amplification CNA BEND2 SNU182 Focal_Amplification CNA SMCR8 SNU182 Focal_Amplification CNA SHMT1 SNU182 Focal_Amplification CNA SCML2 SNU182 Focal_Amplification CNA EVPLL SNU182 Focal_Amplification CNA FLJ35934 SNU182 Focal_Amplification CNA KRT17P5 SNU182 Focal_Amplification CNA CDKL5 SNU182 Focal_Amplification CNA TBC1D28 SNU182 Focal_Amplification CNA TRIM16L SNU182 Focal_Amplification CNA RS1 SNU182 Focal_Amplification CNA TVP23B SNU182 Focal_Amplification CNA PPEF1-AS1 SNU182 Focal_Amplification CNA PPEF1 SNU182 Focal_Amplification CNA PRPSAP2 SNU182 Focal_Amplification CNA SLC5A10 SNU182 Focal_Amplification CNA FAM83G SNU182 Focal_Amplification CNA PHKA2-AS1 SNU182 Focal_Amplification CNA PHKA2 SNU182 Focal_Amplification CNA ADGRG2 SNU182 Focal_Amplification CNA EPN2 SNU182 Focal_Amplification CNA EPN2-IT1 SNU182 Focal_Amplification CNA EPN2-AS1 SNU182 Focal_Amplification CNA B9D1 SNU182 Focal_Amplification CNA MAPK7 SNU182 Focal_Amplification CNA MFAP4 SNU182 Focal_Amplification CNA RNF112 SNU182 Focal_Amplification CNA PDHA1 SNU182 Focal_Amplification CNA MAP3K15 SNU182 Focal_Amplification CNA SLC47A1 SNU182 Focal_Amplification CNA ALDH3A2 SNU182 Focal_Amplification CNA SH3KBP1 SNU182 Focal_Amplification CNA SLC47A2 SNU182 Focal_Amplification CNA ALDH3A1 SNU182 Focal_Amplification CNA ULK2 SNU182 Focal_Amplification CNA SEPT5 SNU182 Focal_Amplification CNA SEPT5-GP1BB SNU182 Focal_Amplification CNA GP1BB SNU182 Focal_Amplification CNA TBX1 SNU182 Focal_Amplification CNA GNB1L SNU182 Focal_Amplification CNA AKAP10 SNU182 Focal_Amplification CNA C22orf29 SNU182 Focal_Amplification CNA TXNRD2 SNU182 Focal_Amplification CNA COMT SNU182 Focal_Amplification CNA CXorf23 SNU182 Focal_Amplification CNA MIR4761 SNU182 Focal_Amplification CNA ARVCF SNU182 Focal_Amplification CNA TANGO2 SNU182 Focal_Amplification CNA LOC729609 SNU182 Focal_Amplification CNA MIR185 SNU182 Focal_Amplification CNA MAP7D2 SNU182 Focal_Amplification CNA MIR23C SNU182 Focal_Amplification CNA DGCR8 SNU182 Focal_Amplification CNA MIR3618 SNU182 Focal_Amplification CNA TRMT2A SNU182 Focal_Amplification CNA MIR6816 SNU182 Focal_Amplification CNA RANBP1 SNU182 Focal_Amplification CNA ZDHHC8 SNU182 Focal_Amplification CNA CCDC188 SNU182 Focal_Amplification CNA SCARNA9L SNU182 Focal_Amplification CNA LOC284865 SNU182 Focal_Amplification CNA LINC00896 SNU182 Focal_Amplification CNA RTN4R SNU182 Focal_Amplification CNA DGCR6L SNU182 Focal_Amplification CNA KRT16P3 SNU182 Focal_Amplification CNA CDRT15L2 SNU182 Focal_Amplification CNA LOC100287072 SNU182 Focal_Amplification CNA ZNF74 SNU182 Focal_Amplification CNA CCDC144NL SNU182 Focal_Amplification CNA CCDC144NL-AS1 SNU182 Focal_Amplification CNA SCARF2 SNU182 Focal_Amplification CNA KLHL22 SNU182 Focal_Amplification CNA LOC339260 SNU182 Focal_Amplification CNA MED15 SNU182 Focal_Amplification CNA USP22 SNU182 Focal_Amplification CNA LINC01563 SNU182 Focal_Amplification CNA DHRS7B SNU182 Focal_Amplification CNA POM121L4P SNU182 Focal_Amplification CNA TMEM191A SNU182 Focal_Amplification CNA PI4KA SNU182 Focal_Amplification CNA TMEM11 SNU182 Focal_Amplification CNA SERPIND1 SNU182 Focal_Amplification CNA NATD1 SNU182 Focal_Amplification CNA MAP2K3 SNU182 Focal_Amplification CNA SNAP29 SNU182 Focal_Amplification CNA CRKL SNU182 Focal_Amplification CNA KCNJ12 SNU182 Focal_Amplification CNA KCNJ18 SNU182 Focal_Amplification CNA LOC101928891 SNU182 Focal_Amplification CNA AIFM3 SNU182 Focal_Amplification CNA THAP7 SNU182 Focal_Amplification CNA THAP7-AS1 SNU182 Focal_Amplification CNA TUBA3FP SNU182 Focal_Amplification CNA P2RX6 SNU182 Focal_Amplification CNA SLC7A4 SNU182 Focal_Amplification CNA CNKSR2 SNU182 Focal_Amplification CNA P2RX6P SNU182 Focal_Amplification CNA LRRC74B SNU182 Focal_Amplification CNA C17orf51 SNU182 Focal_Amplification CNA KLHL34 SNU182 Focal_Amplification CNA SMPX SNU182 Focal_Amplification CNA HIC2 SNU182 Focal_Amplification CNA MBTPS2 SNU182 Focal_Amplification CNA YY2 SNU182 Focal_Amplification CNA UBE2L3 SNU182 Focal_Amplification CNA FLJ36000 SNU182 Focal_Amplification CNA SMS SNU182 Focal_Amplification CNA YDJC SNU182 Focal_Amplification CNA CCDC116 SNU182 Focal_Amplification CNA SDF2L1 SNU182 Focal_Amplification CNA PPIL2 SNU182 Focal_Amplification CNA PHEX SNU182 Focal_Amplification CNA YPEL1 SNU182 Focal_Amplification CNA PHEX-AS1 SNU182 Focal_Amplification CNA PPM1F SNU182 Focal_Amplification CNA ZNF645 SNU182 Focal_Amplification CNA TOP3B SNU182 Focal_Amplification CNA PRAMENP SNU182 Focal_Amplification CNA POM121L1P SNU182 Focal_Amplification CNA DDX53 SNU182 Focal_Amplification CNA PTCHD1 SNU182 Focal_Amplification CNA PRDX4 SNU182 Focal_Amplification CNA ACOT9 SNU182 Focal_Amplification CNA SAT1 SNU182 Focal_Amplification CNA APOO SNU182 Focal_Amplification CNA CXorf58 SNU182 Focal_Amplification CNA KLHL15 SNU182 Focal_Amplification CNA EIF2S3 SNU182 Focal_Amplification CNA ZFX-AS1 SNU182 Focal_Amplification CNA ZFX SNU182 Focal_Amplification CNA PDK3 SNU182 Focal_Amplification CNA PCYT1B SNU182 Focal_Amplification CNA PCYT1B-AS1 SNU182 Focal_Amplification CNA POLA1 SNU182 Focal_Amplification CNA SCARNA23 SNU182 Focal_Amplification CNA ARX SNU182 Focal_Amplification CNA MIR4522 SNU182 Focal_Amplification CNA WSB1 SNU182 Focal_Amplification CNA TBC1D3P5 SNU182 Focal_Amplification CNA KSR1 SNU182 Focal_Amplification CNA LGALS9 SNU182 Focal_Amplification CNA NOS2 SNU182 Focal_Amplification CNA MAGEB18 SNU182 Focal_Amplification CNA MAGEB6 SNU182 Focal_Amplification CNA MAGEB5 SNU182 Focal_Amplification CNA VENTXP1 SNU182 Focal_Amplification CNA PPP4R3CP SNU182 Focal_Amplification CNA DCAF8L2 SNU182 Focal_Amplification CNA MAGEB10 SNU182 Focal_Amplification CNA DCAF8L1 SNU182 Focal_Amplification CNA MAGEB2 SNU182 Focal_Amplification CNA HSD3B7 SNU182 Focal_Amplification CNA STX1B SNU182 Focal_Amplification CNA STX4 SNU182 Focal_Amplification CNA ZNF668 SNU182 Focal_Amplification CNA ZNF646 SNU182 Focal_Amplification CNA PRSS53 SNU182 Focal_Amplification CNA VKORC1 SNU182 Focal_Amplification CNA BCKDK SNU182 Focal_Amplification CNA KAT8 SNU182 Focal_Amplification CNA PRSS8 SNU182 Focal_Amplification CNA PRSS36 SNU182 Focal_Amplification CNA PYCARD SNU182 Focal_Amplification CNA PYCARD-AS1 SNU182 Focal_Amplification CNA TRIM72 SNU182 Focal_Amplification CNA PYDC1 SNU182 Focal_Amplification CNA ITGAM SNU182 Focal_Amplification CNA ITGAX SNU182 Focal_Amplification CNA COX6A2 SNU182 Focal_Amplification CNA ZNF843 SNU182 Focal_Amplification CNA ARMC5 SNU182 Focal_Amplification CNA TGFB1I1 SNU182 Focal_Amplification CNA SLC5A2 SNU182 Focal_Amplification CNA C16orf58 SNU182 Focal_Amplification CNA AHSP SNU182 Focal_Amplification CNA FRG2KP SNU182 Focal_Amplification CNA YBX3P1 SNU182 Focal_Amplification CNA SPEF2 SNU182 Focal_Amplification CNA CAPSL SNU182 Focal_Amplification CNA LOC100506406 SNU182 Focal_Amplification CNA UGT3A1 SNU182 Focal_Amplification CNA UGT3A2 SNU182 Focal_Amplification CNA SKP2 SNU182 Focal_Amplification CNA SLC1A3 SNU182 Focal_Amplification CNA NIPBL-AS1 SNU182 Focal_Amplification CNA LOC105374727 SNU182 Focal_Amplification CNA GDNF-AS1 SNU182 Focal_Amplification CNA LOC105374729 SNU182 Focal_Amplification CNA LOC101929745 SNU182 Focal_Amplification CNA EGFLAM-AS4 SNU182 Focal_Amplification CNA LOC101926940 SNU182 Focal_Amplification CNA C6 SNU182 Focal_Amplification CNA PLCXD3 SNU182 Focal_Amplification CNA OXCT1-AS1 SNU182 Focal_Amplification CNA LOC101926960 SNU182 Focal_Amplification CNA LOC648987 SNU182 Focal_Amplification CNA LOC153684 SNU182 Focal_Amplification CNA LOC100132356 SNU182 Focal_Amplification CNA LOC100506639 SNU182 Focal_Amplification CNA PAIP1 SNU182 Focal_Amplification CNA FGF10-AS1 SNU182 Focal_Amplification CNA BRCAT107 SNU182 Focal_Amplification CNA GUCY2F SNU182 Focal_Amplification CNA NXT2 SNU182 Focal_Amplification CNA KCNE5 SNU387 Focal_Amplification CNA LRP5 SNU387 Focal_Amplification CNA IGHMBP2 SNU387 Focal_Amplification CNA TPCN2 SNU387 Focal_Amplification CNA MYEOV SNU387 Focal_Amplification CNA ORAOV1 SNU387 Focal_Amplification CNA FGF4 SNU387 Focal_Amplification CNA FGF3 SNU387 Focal_Amplification CNA ANO1 SNU387 Focal_Amplification CNA KDM2A SNU387 Focal_Amplification CNA CCND1 SNU387 Focal_Amplification CNA FGF19 SNU387 Focal_Amplification CNA PACS1 SNU387 Focal_Amplification CNA KLC2 SNU387 Focal_Amplification CNA RAB1B SNU387 Focal_Amplification CNA CNIH2 SNU387 Focal_Amplification CNA YIF1A SNU387 Focal_Amplification CNA TMEM151A SNU387 Focal_Amplification CNA CD248 SNU387 Focal_Amplification CNA RIN1 SNU387 Focal_Amplification CNA BRMS1 SNU387 Focal_Amplification CNA B4GAT1 SNU387 Focal_Amplification CNA SLC29A2 SNU387 Focal_Amplification CNA NPAS4 SNU387 Focal_Amplification CNA MRPL11 SNU387 Focal_Amplification CNA PELI3 SNU387 Focal_Amplification CNA LOC101928069 SNU387 Focal_Amplification CNA DPP3 SNU387 Focal_Amplification CNA BBS1 SNU387 Focal_Amplification CNA ZDHHC24 SNU387 Focal_Amplification CNA ACTN3 SNU387 Focal_Amplification CNA CTSF SNU387 Focal_Amplification CNA CCDC87 SNU387 Focal_Amplification CNA CCS SNU387 Focal_Amplification CNA RBM14 SNU387 Focal_Amplification CNA RBM14-RBM4 SNU387 Focal_Amplification CNA RBM4 SNU387 Focal_Amplification CNA RBM4B SNU387 Focal_Amplification CNA SPTBN2 SNU387 Focal_Amplification CNA C11orf80 SNU387 Focal_Amplification CNA RCE1 SNU387 Focal_Amplification CNA PC SNU387 Focal_Amplification CNA LRFN4 SNU387 Focal_Amplification CNA C11orf86 SNU387 Focal_Amplification CNA SYT12 SNU387 Focal_Amplification CNA MIR6860 SNU387 Focal_Amplification CNA RHOD SNU387 Focal_Amplification CNA ADRBK1 SNU387 Focal_Amplification CNA ANKRD13D SNU387 Focal_Amplification CNA SSH3 SNU387 Focal_Amplification CNA LOC100130987 SNU387 Focal_Amplification CNA POLD4 SNU387 Focal_Amplification CNA CLCF1 SNU387 Focal_Amplification CNA RAD9A SNU387 Focal_Amplification CNA PPP1CA SNU387 Focal_Amplification CNA TBC1D10C SNU387 Focal_Amplification CNA CARNS1 SNU387 Focal_Amplification CNA RPS6KB2 SNU387 Focal_Amplification CNA PTPRCAP SNU387 Focal_Amplification CNA CORO1B SNU387 Focal_Amplification CNA GPR152 SNU387 Focal_Amplification CNA CABP4 SNU387 Focal_Amplification CNA TMEM134 SNU387 Focal_Amplification CNA AIP SNU387 Focal_Amplification CNA MIR6752 SNU387 Focal_Amplification CNA PITPNM1 SNU387 Focal_Amplification CNA CDK2AP2 SNU387 Focal_Amplification CNA CABP2 SNU387 Focal_Amplification CNA GSTP1 SNU387 Focal_Amplification CNA C11orf72 SNU387 Focal_Amplification CNA NDUFV1 SNU387 Focal_Amplification CNA DOC2GP SNU387 Focal_Amplification CNA NUDT8 SNU387 Focal_Amplification CNA TBX10 SNU387 Focal_Amplification CNA ACY3 SNU387 Focal_Amplification CNA ALDH3B2 SNU387 Focal_Amplification CNA FAM86C2P SNU387 Focal_Amplification CNA UNC93B1 SNU387 Focal_Amplification CNA ALDH3B1 SNU387 Focal_Amplification CNA NDUFS8 SNU387 Focal_Amplification CNA MIR7113 SNU387 Focal_Amplification CNA MIR4691 SNU387 Focal_Amplification CNA TCIRG1 SNU387 Focal_Amplification CNA MIR6753 SNU387 Focal_Amplification CNA CHKA SNU387 Focal_Amplification CNA KMT5B SNU387 Focal_Amplification CNA C11orf24 SNU387 Focal_Amplification CNA PPP6R3 SNU387 Focal_Amplification CNA GAL SNU387 Focal_Amplification CNA MTL5 SNU387 Focal_Amplification CNA CPT1A SNU387 Focal_Amplification CNA MRPL21 SNU387 Focal_Amplification CNA MRGPRD SNU387 Focal_Amplification CNA MRGPRF SNU387 Focal_Amplification CNA MRGPRF-AS1 SNU387 Focal_Amplification CNA MIR3164 SNU387 Focal_Amplification CNA LOC338694 SNU387 Focal_Amplification CNA LOC102724265 SNU387 Focal_Amplification CNA LINC01488 SNU387 Focal_Amplification CNA LOC101928443 SNU387 Focal_Amplification CNA ANO1-AS2 SNU387 Focal_Amplification CNA FADD SNU387 Focal_Amplification CNA PPFIA1 SNU387 Focal_Amplification CNA MIR548K SNU387 Focal_Amplification CNA CTTN SNU387 Focal_Amplification CNA MTRNR2L6 SNU423 Focal_Amplification CNA ZNF658 SNU423 Focal_Amplification CNA ZNF658 SNU423 Focal_Amplification CNA GLIDR SNU423 Focal_Amplification CNA LOC100132249 SNU423 Focal_Amplification CNA AQP7P1 SNU423 Focal_Amplification CNA ORM1 SNU449 Focal_Amplification CNA DEFA1B SNU449 Focal_Amplification CNA DEFA1 SNU449 Focal_Amplification CNA DEFA3 SNU449 Focal_Amplification CNA FAM66B SNU449 Focal_Amplification CNA DEFB109P1B SNU449 Focal_Amplification CNA USP17L4 SNU449 Focal_Amplification CNA EPN2 SNU449 Focal_Amplification CNA EPN2-IT1 SNU449 Focal_Amplification CNA EPN2-AS1 SNU449 Focal_Amplification CNA B9D1 SNU449 Focal_Amplification CNA MAPK7 SNU449 Focal_Amplification CNA MFAP4 SNU449 Focal_Amplification CNA RNF112 SNU449 Focal_Amplification CNA SLC47A1 SNU449 Focal_Amplification CNA ZNF658 SNU449 Focal_Amplification CNA GLIDR SNU475 Focal_Amplification CNA LRP5 SNU475 Focal_Amplification CNA IGHMBP2 SNU475 Focal_Amplification CNA TPCN2 SNU475 Focal_Amplification CNA MYEOV SNU475 Focal_Amplification CNA ORAOV1 SNU475 Focal_Amplification CNA FGF4 SNU475 Focal_Amplification CNA FGF3 SNU475 Focal_Amplification CNA ANO1 SNU475 Focal_Amplification CNA KDM2A SNU475 Focal_Amplification CNA CCND1 SNU475 Focal_Amplification CNA FGF19 SNU475 Focal_Amplification CNA PRAMEF4 SNU475 Focal_Amplification CNA MRGPRX1 SNU475 Focal_Amplification CNA DDX11-AS1 SNU475 Focal_Amplification CNA DDX11 SNU475 Focal_Amplification CNA FAM60A SNU475 Focal_Amplification CNA FLJ13224 SNU475 Focal_Amplification CNA DENND5B SNU475 Focal_Amplification CNA ETFBKMT SNU475 Focal_Amplification CNA AMN1 SNU475 Focal_Amplification CNA CYP21A2 SNU475 Focal_Amplification CNA CYP21A1P SNU475 Focal_Amplification CNA LOC105369723 SNU475 Focal_Amplification CNA TRIM51 SNU475 Focal_Amplification CNA OR5I1 SNU475 Focal_Amplification CNA OR7E5P SNU475 Focal_Amplification CNA OR5F1 SNU475 Focal_Amplification CNA OR5AS1 SNU475 Focal_Amplification CNA OR8I2 SNU475 Focal_Amplification CNA OR8H2 SNU475 Focal_Amplification CNA OR8H3 SNU475 Focal_Amplification CNA OR8J3 SNU475 Focal_Amplification CNA OR8K5 SNU475 Focal_Amplification CNA OR5J2 SNU475 Focal_Amplification CNA ADRBK1 SNU475 Focal_Amplification CNA ANKRD13D SNU475 Focal_Amplification CNA SSH3 SNU475 Focal_Amplification CNA LOC100130987 SNU475 Focal_Amplification CNA POLD4 SNU475 Focal_Amplification CNA CLCF1 SNU475 Focal_Amplification CNA RAD9A SNU475 Focal_Amplification CNA PPP1CA SNU475 Focal_Amplification CNA TBC1D10C SNU475 Focal_Amplification CNA CARNS1 SNU475 Focal_Amplification CNA RPS6KB2 SNU475 Focal_Amplification CNA PTPRCAP SNU475 Focal_Amplification CNA CORO1B SNU475 Focal_Amplification CNA GPR152 SNU475 Focal_Amplification CNA CABP4 SNU475 Focal_Amplification CNA TMEM134 SNU475 Focal_Amplification CNA AIP SNU475 Focal_Amplification CNA MIR6752 SNU475 Focal_Amplification CNA PITPNM1 SNU475 Focal_Amplification CNA CDK2AP2 SNU475 Focal_Amplification CNA CABP2 SNU475 Focal_Amplification CNA GSTP1 SNU475 Focal_Amplification CNA C11orf72 SNU475 Focal_Amplification CNA NDUFV1 SNU475 Focal_Amplification CNA DOC2GP SNU475 Focal_Amplification CNA NUDT8 SNU475 Focal_Amplification CNA TBX10 SNU475 Focal_Amplification CNA ACY3 SNU475 Focal_Amplification CNA ALDH3B2 SNU475 Focal_Amplification CNA FAM86C2P SNU475 Focal_Amplification CNA UNC93B1 SNU475 Focal_Amplification CNA ALDH3B1 SNU475 Focal_Amplification CNA NDUFS8 SNU475 Focal_Amplification CNA MIR7113 SNU475 Focal_Amplification CNA MIR4691 SNU475 Focal_Amplification CNA TCIRG1 SNU475 Focal_Amplification CNA MIR6753 SNU475 Focal_Amplification CNA CHKA SNU475 Focal_Amplification CNA KMT5B SNU475 Focal_Amplification CNA C11orf24 SNU475 Focal_Amplification CNA PPP6R3 SNU475 Focal_Amplification CNA GAL SNU475 Focal_Amplification CNA MTL5 SNU475 Focal_Amplification CNA CPT1A SNU475 Focal_Amplification CNA MRPL21 SNU475 Focal_Amplification CNA MRGPRD SNU475 Focal_Amplification CNA MRGPRF SNU475 Focal_Amplification CNA MRGPRF-AS1 SNU475 Focal_Amplification CNA MIR3164 SNU475 Focal_Amplification CNA LOC338694 SNU475 Focal_Amplification CNA LOC102724265 SNU475 Focal_Amplification CNA LINC01488 SNU475 Focal_Amplification CNA LOC101928443 SNU475 Focal_Amplification CNA ANO1-AS2 SNU475 Focal_Amplification CNA FADD SNU475 Focal_Amplification CNA PPFIA1 SNU475 Focal_Amplification CNA MIR548K SNU475 Focal_Amplification CNA CTTN SNU475 Focal_Amplification CNA SHANK2 Huh7 Focal_Amplification CNA CLP1 Huh7 Focal_Amplification CNA SBDS Huh7 Focal_Amplification CNA LRP5 Huh7 Focal_Amplification CNA TPCN2 Huh7 Focal_Amplification CNA WBSCR17 Huh7 Focal_Amplification CNA KDM2A Huh7 Focal_Amplification CNA CCND1 Huh7 Focal_Amplification CNA FGF19 Huh7 Focal_Amplification CNA ANO3 Huh7 Focal_Amplification CNA MUC15 Huh7 Focal_Amplification CNA SLC5A12 Huh7 Focal_Amplification CNA FIBIN Huh7 Focal_Amplification CNA BBOX1 Huh7 Focal_Amplification CNA BBOX1-AS1 Huh7 Focal_Amplification CNA LINC00678 Huh7 Focal_Amplification CNA G2E3 Huh7 Focal_Amplification CNA SCFD1 Huh7 Focal_Amplification CNA COCH Huh7 Focal_Amplification CNA LOC100506071 Huh7 Focal_Amplification CNA STRN3 Huh7 Focal_Amplification CNA AP4S1 Huh7 Focal_Amplification CNA HECTD1 Huh7 Focal_Amplification CNA HEATR5A Huh7 Focal_Amplification CNA LOC101927124 Huh7 Focal_Amplification CNA DTD2 Huh7 Focal_Amplification CNA GPR33 Huh7 Focal_Amplification CNA NUBPL Huh7 Focal_Amplification CNA ARHGAP5-AS1 Huh7 Focal_Amplification CNA ARHGAP5 Huh7 Focal_Amplification CNA OR9G4 Huh7 Focal_Amplification CNA LOC101927120 Huh7 Focal_Amplification CNA OR5AK2 Huh7 Focal_Amplification CNA RTN4RL2 Huh7 Focal_Amplification CNA SLC43A1 Huh7 Focal_Amplification CNA TIMM10 Huh7 Focal_Amplification CNA SMTNL1 Huh7 Focal_Amplification CNA UBE2L6 Huh7 Focal_Amplification CNA SERPING1 Huh7 Focal_Amplification CNA MIR130A Huh7 Focal_Amplification CNA YPEL4 Huh7 Focal_Amplification CNA ZDHHC5 Huh7 Focal_Amplification CNA MED19 Huh7 Focal_Amplification CNA TMX2 Huh7 Focal_Amplification CNA TMX2-CTNND1 Huh7 Focal_Amplification CNA C11orf31 Huh7 Focal_Amplification CNA BTBD18 Huh7 Focal_Amplification CNA CTNND1 Huh7 Focal_Amplification CNA OSBP Huh7 Focal_Amplification CNA MIR3162 Huh7 Focal_Amplification CNA PATL1 Huh7 Focal_Amplification CNA CCDC86 Huh7 Focal_Amplification CNA PTGDR2 Huh7 Focal_Amplification CNA ZP1 Huh7 Focal_Amplification CNA PRPF19 Huh7 Focal_Amplification CNA TMEM109 Huh7 Focal_Amplification CNA LOC101927495 Huh7 Focal_Amplification CNA SLC22A9 Huh7 Focal_Amplification CNA HRASLS5 Huh7 Focal_Amplification CNA LGALS12 Huh7 Focal_Amplification CNA RARRES3 Huh7 Focal_Amplification CNA HRASLS2 Huh7 Focal_Amplification CNA PLA2G16 Huh7 Focal_Amplification CNA ATL3 Huh7 Focal_Amplification CNA LOC100128885 Huh7 Focal_Amplification CNA CCT6P3 Huh7 Focal_Amplification CNA ZNF92 Huh7 Focal_Amplification CNA LOC441242 Huh7 Focal_Amplification CNA CCT6P1 Huh7 Focal_Amplification CNA VKORC1L1 Huh7 Focal_Amplification CNA TPST1 Huh7 Focal_Amplification CNA PACS1 Huh7 Focal_Amplification CNA LINC00174 Huh7 Focal_Amplification CNA GS1-124K5.4 Huh7 Focal_Amplification CNA GS1-124K5.11 Huh7 Focal_Amplification CNA KLC2 Huh7 Focal_Amplification CNA RAB1B Huh7 Focal_Amplification CNA CNIH2 Huh7 Focal_Amplification CNA YIF1A Huh7 Focal_Amplification CNA TMEM151A Huh7 Focal_Amplification CNA CD248 Huh7 Focal_Amplification CNA RIN1 Huh7 Focal_Amplification CNA BRMS1 Huh7 Focal_Amplification CNA B4GAT1 Huh7 Focal_Amplification CNA LOC100996437 Huh7 Focal_Amplification CNA SLC29A2 Huh7 Focal_Amplification CNA RABGEF1 Huh7 Focal_Amplification CNA NPAS4 Huh7 Focal_Amplification CNA MRPL11 Huh7 Focal_Amplification CNA PELI3 Huh7 Focal_Amplification CNA LOC101928069 Huh7 Focal_Amplification CNA DPP3 Huh7 Focal_Amplification CNA GTF2IRD1P1 Huh7 Focal_Amplification CNA BBS1 Huh7 Focal_Amplification CNA ZDHHC24 Huh7 Focal_Amplification CNA ACTN3 Huh7 Focal_Amplification CNA CTSF Huh7 Focal_Amplification CNA CCDC87 Huh7 Focal_Amplification CNA CCS Huh7 Focal_Amplification CNA RBM14 Huh7 Focal_Amplification CNA RBM14-RBM4 Huh7 Focal_Amplification CNA RBM4 Huh7 Focal_Amplification CNA RBM4B Huh7 Focal_Amplification CNA SPTBN2 Huh7 Focal_Amplification CNA C11orf80 Huh7 Focal_Amplification CNA RCE1 Huh7 Focal_Amplification CNA PC Huh7 Focal_Amplification CNA LRFN4 Huh7 Focal_Amplification CNA C11orf86 Huh7 Focal_Amplification CNA PMS2P4 Huh7 Focal_Amplification CNA STAG3L4 Huh7 Focal_Amplification CNA SYT12 Huh7 Focal_Amplification CNA MIR6860 Huh7 Focal_Amplification CNA RHOD Huh7 Focal_Amplification CNA ADRBK1 Huh7 Focal_Amplification CNA ANKRD13D Huh7 Focal_Amplification CNA SSH3 Huh7 Focal_Amplification CNA LOC100130987 Huh7 Focal_Amplification CNA POLD4 Huh7 Focal_Amplification CNA CLCF1 Huh7 Focal_Amplification CNA RAD9A Huh7 Focal_Amplification CNA PPP1CA Huh7 Focal_Amplification CNA TBC1D10C Huh7 Focal_Amplification CNA CARNS1 Huh7 Focal_Amplification CNA RPS6KB2 Huh7 Focal_Amplification CNA PTPRCAP Huh7 Focal_Amplification CNA CORO1B Huh7 Focal_Amplification CNA GPR152 Huh7 Focal_Amplification CNA CABP4 Huh7 Focal_Amplification CNA TMEM134 Huh7 Focal_Amplification CNA AIP Huh7 Focal_Amplification CNA MIR6752 Huh7 Focal_Amplification CNA PITPNM1 Huh7 Focal_Amplification CNA CDK2AP2 Huh7 Focal_Amplification CNA CABP2 Huh7 Focal_Amplification CNA GSTP1 Huh7 Focal_Amplification CNA C11orf72 Huh7 Focal_Amplification CNA NDUFV1 Huh7 Focal_Amplification CNA DOC2GP Huh7 Focal_Amplification CNA NUDT8 Huh7 Focal_Amplification CNA TBX10 Huh7 Focal_Amplification CNA ACY3 Huh7 Focal_Amplification CNA ALDH3B2 Huh7 Focal_Amplification CNA FAM86C2P Huh7 Focal_Amplification CNA UNC93B1 Huh7 Focal_Amplification CNA ALDH3B1 Huh7 Focal_Amplification CNA NDUFS8 Huh7 Focal_Amplification CNA MIR7113 Huh7 Focal_Amplification CNA MIR4691 Huh7 Focal_Amplification CNA TCIRG1 Huh7 Focal_Amplification CNA MIR6753 Huh7 Focal_Amplification CNA CHKA Huh7 Focal_Amplification CNA KMT5B Huh7 Focal_Amplification CNA C11orf24 Huh7 Focal_Amplification CNA PPP6R3 Huh7 Focal_Amplification CNA MTL5 Huh7 Focal_Amplification CNA CPT1A Huh7 Focal_Amplification CNA MRGPRF-AS1 Huh7 Focal_Amplification CNA MIR3164 Huh7 Focal_Amplification CNA LOC338694 Huh7 Focal_Amplification CNA LOC102724265 Huh7 Focal_Amplification CNA LINC01488 Huh7 Focal_Amplification CNA LOC101928443 Huh7 Focal_Amplification CNA LOC101927502 Huh7 Focal_Amplification CNA SPATA31D5P Huh7 Focal_Amplification CNA SPATA31D1 Huh7 Focal_Amplification CNA ACTR6 Huh7 Focal_Amplification CNA DEPDC4 Huh7 Focal_Amplification CNA IFT81 Huh7 Focal_Amplification CNA ARPC3 Huh7 Focal_Amplification CNA FAM216A Huh7 Focal_Amplification CNA RAD9B Mahlavu Focal_Amplification CNA BCL3 Mahlavu Focal_Amplification CNA CBLC Mahlavu Focal_Amplification CNA ERCC2 Mahlavu Focal_Amplification CNA PSG2 Mahlavu Focal_Amplification CNA PSG5 Mahlavu Focal_Amplification CNA PSG4 Mahlavu Focal_Amplification CNA LOC284344 Mahlavu Focal_Amplification CNA PSG9 Mahlavu Focal_Amplification CNA TEX101 Mahlavu Focal_Amplification CNA LYPD3 Mahlavu Focal_Amplification CNA PHLDB3 Mahlavu Focal_Amplification CNA ETHE1 Mahlavu Focal_Amplification CNA ZNF575 Mahlavu Focal_Amplification CNA XRCC1 Mahlavu Focal_Amplification CNA PINLYP Mahlavu Focal_Amplification CNA IRGQ Mahlavu Focal_Amplification CNA ZNF576 Mahlavu Focal_Amplification CNA ZNF428 Mahlavu Focal_Amplification CNA SRRM5 Mahlavu Focal_Amplification CNA CADM4 Mahlavu Focal_Amplification CNA PLAUR Mahlavu Focal_Amplification CNA IRGC Mahlavu Focal_Amplification CNA SMG9 Mahlavu Focal_Amplification CNA KCNN4 Mahlavu Focal_Amplification CNA LYPD5 Mahlavu Focal_Amplification CNA ZNF283 Mahlavu Focal_Amplification CNA ZNF404 Mahlavu Focal_Amplification CNA LOC100505715 Mahlavu Focal_Amplification CNA ZNF45 Mahlavu Focal_Amplification CNA ZNF221 Mahlavu Focal_Amplification CNA ZNF155 Mahlavu Focal_Amplification CNA LOC101928063 Mahlavu Focal_Amplification CNA ZNF230 Mahlavu Focal_Amplification CNA ZNF222 Mahlavu Focal_Amplification CNA ZNF223 Mahlavu Focal_Amplification CNA ZNF284 Mahlavu Focal_Amplification CNA ZNF224 Mahlavu Focal_Amplification CNA LOC100379224 Mahlavu Focal_Amplification CNA ZNF225 Mahlavu Focal_Amplification CNA ZNF234 Mahlavu Focal_Amplification CNA ZNF226 Mahlavu Focal_Amplification CNA ZNF227 Mahlavu Focal_Amplification CNA ZNF233 Mahlavu Focal_Amplification CNA ZNF235 Mahlavu Focal_Amplification CNA ZNF112 Mahlavu Focal_Amplification CNA ZNF285 Mahlavu Focal_Amplification CNA ZNF229 Mahlavu Focal_Amplification CNA ZNF180 Mahlavu Focal_Amplification CNA CEACAM20 Mahlavu Focal_Amplification CNA CEACAM22P Mahlavu Focal_Amplification CNA IGSF23 Mahlavu Focal_Amplification CNA PVR Mahlavu Focal_Amplification CNA MIR4531 Mahlavu Focal_Amplification CNA CEACAM19 Mahlavu Focal_Amplification CNA CEACAM16 Mahlavu Focal_Amplification CNA MIR8085 Mahlavu Focal_Amplification CNA BCAM Mahlavu Focal_Amplification CNA NECTIN2 Mahlavu Focal_Amplification CNA TOMM40 Mahlavu Focal_Amplification CNA APOE Mahlavu Focal_Amplification CNA APOC1 Mahlavu Focal_Amplification CNA APOC1P1 Mahlavu Focal_Amplification CNA APOC4 Mahlavu Focal_Amplification CNA APOC4-APOC2 Mahlavu Focal_Amplification CNA APOC2 Mahlavu Focal_Amplification CNA CLPTM1 Mahlavu Focal_Amplification CNA RELB Mahlavu Focal_Amplification CNA CLASRP Mahlavu Focal_Amplification CNA ZNF296 Mahlavu Focal_Amplification CNA GEMIN7 Mahlavu Focal_Amplification CNA LOC105372419 Mahlavu Focal_Amplification CNA PPP1R37 Mahlavu Focal_Amplification CNA NKPD1 Mahlavu Focal_Amplification CNA TRAPPC6A Mahlavu Focal_Amplification CNA BLOC1S3 Mahlavu Focal_Amplification CNA EXOC3L2 Mahlavu Focal_Amplification CNA MARK4 Mahlavu Focal_Amplification CNA CKM Mahlavu Focal_Amplification CNA KLC3 Mahlavu Focal_Amplification CNA PPP1R13L Mahlavu Focal_Amplification CNA CD3EAP Mahlavu Focal_Amplification CNA ERCC1 Mahlavu Focal_Amplification CNA FOSB Mahlavu Focal_Amplification CNA RTN2 Mahlavu Focal_Amplification CNA PPM1N Mahlavu Focal_Amplification CNA VASP Mahlavu Focal_Amplification CNA OPA3 Mahlavu Focal_Amplification CNA GPR4 Mahlavu Focal_Amplification CNA EML2 Mahlavu Focal_Amplification CNA MIR330 Mahlavu Focal_Amplification CNA EML2-AS1 Mahlavu Focal_Amplification CNA GIPR Mahlavu Focal_Amplification CNA MIR642A Mahlavu Focal_Amplification CNA MIR642B Mahlavu Focal_Amplification CNA SNRPD2 Mahlavu Focal_Amplification CNA QPCTL Mahlavu Focal_Amplification CNA FBXO46 Mahlavu Focal_Amplification CNA BHMG1 Mahlavu Focal_Amplification CNA SIX5 Mahlavu Focal_Amplification CNA DMPK Mahlavu Focal_Amplification CNA DMWD Mahlavu Focal_Amplification CNA RSPH6A Mahlavu Focal_Amplification CNA SYMPK Mahlavu Focal_Amplification CNA FOXA3 Mahlavu Focal_Amplification CNA IRF2BP1 Mahlavu Focal_Amplification CNA MYPOP Mahlavu Focal_Amplification CNA NANOS2 Mahlavu Focal_Amplification CNA NOVA2 Mahlavu Focal_Amplification CNA LOC105376306 Mahlavu Focal_Amplification CNA CELP Mahlavu Focal_Amplification CNA LOC100130548 Mahlavu Focal_Amplification CNA EHMT1-IT1 PLC/PRF5 Focal_Amplification CNA ARMC6 PLC/PRF5 Focal_Amplification CNA SLC25A42 PLC/PRF5 Focal_Amplification CNA TMEM161A PLC/PRF5 Focal_Amplification CNA MEF2B PLC/PRF5 Focal_Amplification CNA MEF2BNB-MEF2B PLC/PRF5 Focal_Amplification CNA BORCS8 PLC/PRF5 Focal_Amplification CNA RFXANK PLC/PRF5 Focal_Amplification CNA NR2C2AP PLC/PRF5 Focal_Amplification CNA NCAN PLC/PRF5 Focal_Amplification CNA HAPLN4 PLC/PRF5 Focal_Amplification CNA TM6SF2 PLC/PRF5 Focal_Amplification CNA SUGP1 PLC/PRF5 Focal_Amplification CNA MAU2 PLC/PRF5 Focal_Amplification CNA LINC00664 PLC/PRF5 Focal_Amplification CNA LOC641367 PLC/PRF5 Focal_Amplification CNA ZNF98 HLE Focal_Amplification CNA DEFB109P1B HLE Focal_Amplification CNA USP17L4 HLE Focal_Amplification CNA SPAG11B HLE Focal_Amplification CNA PRB1 HLE Focal_Amplification CNA USP17L7 HLE Focal_Amplification CNA USP17L2 HLE Focal_Amplification CNA FAM90A2P HLE Focal_Amplification CNA FAM66A HLE Focal_Amplification CNA FADS6 HLE Focal_Amplification CNA SMIM5 HLE Focal_Amplification CNA SAP30BP HLE Focal_Amplification CNA ITGB4 HLE Focal_Amplification CNA GALK1 HLE Focal_Amplification CNA AANAT HLE Focal_Amplification CNA RHBDF2 HLE Focal_Amplification CNA CYGB HLE Focal_Amplification CNA PRCD HLE Focal_Amplification CNA SNHG16 HLE Focal_Amplification CNA SNORD1C HLE Focal_Amplification CNA LOC105274304 HLE Focal_Amplification CNA LINC00868 HLE Focal_Amplification CNA 42622 HLE Focal_Amplification CNA MIR4316 HLE Focal_Amplification CNA C1QTNF1 HLE Focal_Amplification CNA ENGASE HLE Focal_Amplification CNA HP09025 HLE Focal_Amplification CNA ENPP7 HLE Focal_Amplification CNA CBX2 HLE Focal_Amplification CNA CBX4 HLE Focal_Amplification CNA LOC101928766 HLE Focal_Amplification CNA LOC101928738 HLE Focal_Amplification CNA TBC1D16 HLE Focal_Amplification CNA GAA HLE Focal_Amplification CNA ENDOV HLE Focal_Amplification CNA MIR4730 HLE Focal_Amplification CNA LOC101928855 HLE Focal_Amplification CNA CHMP6 HLE Focal_Amplification CNA BAIAP2-AS1 HLE Focal_Amplification CNA BAIAP2 HLE Focal_Amplification CNA AATK HLE Focal_Amplification CNA MIR657 HLE Focal_Amplification CNA MIR1250 HLE Focal_Amplification CNA AATK-AS1 HLE Focal_Amplification CNA CEP131 HLE Focal_Amplification CNA ENTHD2 HLE Focal_Amplification CNA C17orf89 HLE Focal_Amplification CNA SLC38A10 HLE Focal_Amplification CNA LINC00482 HLE Focal_Amplification CNA TMEM105 HLE Focal_Amplification CNA LOC100130370 HLE Focal_Amplification CNA BAHCC1 HLE Focal_Amplification CNA MIR4740 HLE Focal_Amplification CNA ACTG1 HLE Focal_Amplification CNA MIR6786 HLE Focal_Amplification CNA HEXDC HLE Focal_Amplification CNA C17orf62 HLE Focal_Amplification CNA NARF HLE Focal_Amplification CNA FOXK2 HLE Focal_Amplification CNA WDR45B HLE Focal_Amplification CNA RAB40B HLE Focal_Amplification CNA MIR4525 HLE Focal_Amplification CNA FN3KRP HLE Focal_Amplification CNA FN3K HLE Focal_Amplification CNA ZNF750 HLE Focal_Amplification CNA B3GNTL1 HLE Focal_Amplification CNA METRNL HLF Focal_Amplification CNA RAI1-AS1 HLF Focal_Amplification CNA KRT17P5 HLF Focal_Amplification CNA KRT16P3 HLF Focal_Amplification CNA LINC01563 Li7 Focal_Amplification CNA TPCN2 Li7 Focal_Amplification CNA MYEOV Li7 Focal_Amplification CNA ORAOV1 Li7 Focal_Amplification CNA FGF4 Li7 Focal_Amplification CNA FGF3 Li7 Focal_Amplification CNA ANO1 Li7 Focal_Amplification CNA CCND1 Li7 Focal_Amplification CNA FGF19 Li7 Focal_Amplification CNA DEFA1B Li7 Focal_Amplification CNA DEFA1 Li7 Focal_Amplification CNA DEFA3 Li7 Focal_Amplification CNA DEFB109P1B Li7 Focal_Amplification CNA USP17L4 Li7 Focal_Amplification CNA ZNF324B Li7 Focal_Amplification CNA ZNF324 Li7 Focal_Amplification CNA ZNF446 Li7 Focal_Amplification CNA SLC27A5 Li7 Focal_Amplification CNA ZBTB45 Li7 Focal_Amplification CNA TRIM28 Li7 Focal_Amplification CNA MIR6807 Li7 Focal_Amplification CNA CHMP2A Li7 Focal_Amplification CNA UBE2M Li7 Focal_Amplification CNA MZF1-AS1 Li7 Focal_Amplification CNA MZF1 Li7 Focal_Amplification CNA CENPBD1P1 Li7 Focal_Amplification CNA MRGPRF Li7 Focal_Amplification CNA MRGPRF-AS1 Li7 Focal_Amplification CNA MIR3164 Li7 Focal_Amplification CNA LOC338694 Li7 Focal_Amplification CNA LOC102724265 Li7 Focal_Amplification CNA LINC01488 Li7 Focal_Amplification CNA LOC101928443 Li7 Focal_Amplification CNA ANO1-AS2 Li7 Focal_Amplification CNA FADD Li7 Focal_Amplification CNA PPFIA1 Li7 Focal_Amplification CNA MIR548K Li7 Focal_Amplification CNA CTTN Li7 Focal_Amplification CNA SHANK2 Li7 Focal_Amplification CNA SHANK2-AS1 Li7 Focal_Amplification CNA SHANK2-AS3 Li7 Focal_Amplification CNA MIR3664 Li7 Focal_Amplification CNA TMED10P1 Li7 Focal_Amplification CNA C8orf33 Huh1 Focal_Amplification CNA BCOR Huh1 Focal_Amplification CNA MID1IP1-AS1 Huh1 Focal_Amplification CNA MID1IP1 Huh1 Focal_Amplification CNA LOC101927476 Huh1 Focal_Amplification CNA ATP6AP2 Huh1 Focal_Amplification CNA MPC1L Huh1 Focal_Amplification CNA CXorf38 Huh1 Focal_Amplification CNA LOC101927501 Huh1 Focal_Amplification CNA LINC01204 Huh1 Focal_Amplification CNA MIR221 Huh1 Focal_Amplification CNA MIR222 Huh1 Focal_Amplification CNA DAZAP2 Huh1 Focal_Amplification CNA SMAGP Huh1 Focal_Amplification CNA BIN2 Huh1 Focal_Amplification CNA SLC4A8 Huh1 Focal_Amplification CNA ANKRD34A Huh1 Focal_Amplification CNA LIX1L Huh1 Focal_Amplification CNA GNRHR2 Huh1 Focal_Amplification CNA PEX11B Huh1 Focal_Amplification CNA ANKRD35 Huh1 Focal_Amplification CNA PIAS3 Huh1 Focal_Amplification CNA MIR6736 Huh1 Focal_Amplification CNA NUDT17 Huh1 Focal_Amplification CNA POLR3C Huh1 Focal_Amplification CNA RNF115 Huh1 Focal_Amplification CNA CD160 Huh1 Focal_Amplification CNA PDZK1 JHH1 Focal_Amplification CNA HNF1B JHH1 Focal_Amplification CNA MECOM JHH1 Focal_Amplification CNA ELOVL2-AS1 JHH1 Focal_Amplification CNA DDX52 JHH1 Focal_Amplification CNA YWHAEP7 JHH1 Focal_Amplification CNA EGFEM1P JHH1 Focal_Amplification CNA LOC100507661 JHH1 Focal_Amplification CNA LOC105374205 JHH2 Focal_Amplification CNA JUN JHH2 Focal_Amplification CNA HLA-DRB5 JHH2 Focal_Amplification CNA TCEB3CL JHH2 Focal_Amplification CNA TCEB3C JHH2 Focal_Amplification CNA OMA1 JHH2 Focal_Amplification CNA TACSTD2 JHH2 Focal_Amplification CNA MYSM1 JHH2 Focal_Amplification CNA LINC01135 JHH2 Focal_Amplification CNA LINC01358 JHH2 Focal_Amplification CNA HSD52 JHH2 Focal_Amplification CNA FGGY JHH2 Focal_Amplification CNA LOC101926944 JHH2 Focal_Amplification CNA HOOK1 JHH2 Focal_Amplification CNA CYP2J2 JHH2 Focal_Amplification CNA C1orf87 JHH2 Focal_Amplification CNA LOC101926964 JHH2 Focal_Amplification CNA NFIA-AS2 JHH2 Focal_Amplification CNA NFIA JHH2 Focal_Amplification CNA NFIA-AS1 JHH2 Focal_Amplification CNA MGC34796 JHH2 Focal_Amplification CNA TM2D1 JHH2 Focal_Amplification CNA PATJ JHH2 Focal_Amplification CNA LINC00466 JHH2 Focal_Amplification CNA PRSS3P2 JHH4 Focal_Amplification CNA AKAP9 JHH4 Focal_Amplification CNA CDK6 JHH4 Focal_Amplification CNA STEAP2-AS1 JHH4 Focal_Amplification CNA DPY19L2P4 JHH4 Focal_Amplification CNA STEAP1 JHH4 Focal_Amplification CNA STEAP2 JHH4 Focal_Amplification CNA CFAP69 JHH4 Focal_Amplification CNA LOC101927446 JHH4 Focal_Amplification CNA GTPBP10 JHH4 Focal_Amplification CNA LOC101409256 JHH4 Focal_Amplification CNA CLDN12 JHH4 Focal_Amplification CNA CDK14 JHH4 Focal_Amplification CNA FZD1 JHH4 Focal_Amplification CNA MTERF1 JHH4 Focal_Amplification CNA CYP51A1 JHH4 Focal_Amplification CNA CYP51A1-AS1 JHH4 Focal_Amplification CNA LRRD1 JHH4 Focal_Amplification CNA KRIT1 JHH4 Focal_Amplification CNA ANKIB1 JHH4 Focal_Amplification CNA LOC105375396 JHH4 Focal_Amplification CNA GATAD1 JHH4 Focal_Amplification CNA PEX1 JHH4 Focal_Amplification CNA RBM48 JHH4 Focal_Amplification CNA FAM133B JHH4 Focal_Amplification CNA FAM133DP JHH4 Focal_Amplification CNA LOC101927497 JHH4 Focal_Amplification CNA SAMD9 JHH4 Focal_Amplification CNA SAMD9L JHH5 Focal_Amplification CNA DEFA1B JHH5 Focal_Amplification CNA DEFA1 JHH5 Focal_Amplification CNA DEFA3 JHH6 Focal_Amplification CNA LOC102724188 JHH6 Focal_Amplification CNA POTED JHH6 Focal_Amplification CNA OR11H4 JHH6 Focal_Amplification CNA RPPH1 JHH6 Focal_Amplification CNA PARP2 JHH6 Focal_Amplification CNA TEP1 JHH6 Focal_Amplification CNA OSGEP JHH6 Focal_Amplification CNA APEX1 JHH6 Focal_Amplification CNA TMEM55B JHH6 Focal_Amplification CNA PNP JHH6 Focal_Amplification CNA RNASE10 JHH6 Focal_Amplification CNA FRGCA JHH6 Focal_Amplification CNA LOC106780825 JHH6 Focal_Amplification CNA LOC101929753 JHH6 Focal_Amplification CNA METTL8 JHH6 Focal_Amplification CNA DLX2-AS1 JHH6 Focal_Amplification CNA RAPGEF4-AS1 JHH6 Focal_Amplification CNA LINC01305 JHH6 Focal_Amplification CNA HOXD-AS2 JHH6 Focal_Amplification CNA HAGLROS JHH6 Focal_Amplification CNA LINC01116 JHH6 Focal_Amplification CNA LINC01117 JHH6 Focal_Amplification CNA LOC100130691 JHH6 Focal_Amplification CNA SCHLAP1 JHH7 Focal_Amplification CNA FLCN JHH7 Focal_Amplification CNA FLCN JHH7 Focal_Amplification CNA SPECC1 JHH7 Focal_Amplification CNA LRP5 JHH7 Focal_Amplification CNA IGHMBP2 JHH7 Focal_Amplification CNA TPCN2 JHH7 Focal_Amplification CNA MYEOV JHH7 Focal_Amplification CNA ORAOV1 JHH7 Focal_Amplification CNA FGF4 JHH7 Focal_Amplification CNA FGF3 JHH7 Focal_Amplification CNA ANO1 JHH7 Focal_Amplification CNA TNFAIP3 JHH7 Focal_Amplification CNA ECT2L JHH7 Focal_Amplification CNA FGFR1OP JHH7 Focal_Amplification CNA CCND1 JHH7 Focal_Amplification CNA FGF19 JHH7 Focal_Amplification CNA DEFA1B JHH7 Focal_Amplification CNA DEFA1 JHH7 Focal_Amplification CNA DEFA3 JHH7 Focal_Amplification CNA CENPV JHH7 Focal_Amplification CNA UBB JHH7 Focal_Amplification CNA TRPV2 JHH7 Focal_Amplification CNA LRRC75A-AS1 JHH7 Focal_Amplification CNA SNORD49B JHH7 Focal_Amplification CNA SNORD49A JHH7 Focal_Amplification CNA SNORD65 JHH7 Focal_Amplification CNA LRRC75A JHH7 Focal_Amplification CNA ZNF287 JHH7 Focal_Amplification CNA ZNF624 JHH7 Focal_Amplification CNA USP32P1 JHH7 Focal_Amplification CNA FAM106CP JHH7 Focal_Amplification CNA TNFRSF13B JHH7 Focal_Amplification CNA MPRIP JHH7 Focal_Amplification CNA PLD6 JHH7 Focal_Amplification CNA COPS3 JHH7 Focal_Amplification CNA NT5M JHH7 Focal_Amplification CNA MED9 JHH7 Focal_Amplification CNA RASD1 JHH7 Focal_Amplification CNA PEMT JHH7 Focal_Amplification CNA SMCR2 JHH7 Focal_Amplification CNA RAI1 JHH7 Focal_Amplification CNA RAI1-AS1 JHH7 Focal_Amplification CNA SMCR5 JHH7 Focal_Amplification CNA SREBF1 JHH7 Focal_Amplification CNA TOM1L2 JHH7 Focal_Amplification CNA DRC3 JHH7 Focal_Amplification CNA ATPAF2 JHH7 Focal_Amplification CNA GID4 JHH7 Focal_Amplification CNA DRG2 JHH7 Focal_Amplification CNA MYO15A JHH7 Focal_Amplification CNA ALKBH5 JHH7 Focal_Amplification CNA LLGL1 JHH7 Focal_Amplification CNA FLII JHH7 Focal_Amplification CNA MIEF2 JHH7 Focal_Amplification CNA TOP3A JHH7 Focal_Amplification CNA SMCR8 JHH7 Focal_Amplification CNA SHMT1 JHH7 Focal_Amplification CNA EVPLL JHH7 Focal_Amplification CNA FLJ35934 JHH7 Focal_Amplification CNA KRT17P5 JHH7 Focal_Amplification CNA TBC1D28 JHH7 Focal_Amplification CNA TRIM16L JHH7 Focal_Amplification CNA TVP23B JHH7 Focal_Amplification CNA PRPSAP2 JHH7 Focal_Amplification CNA SLC5A10 JHH7 Focal_Amplification CNA FAM83G JHH7 Focal_Amplification CNA EPN2 JHH7 Focal_Amplification CNA EPN2-IT1 JHH7 Focal_Amplification CNA EPN2-AS1 JHH7 Focal_Amplification CNA B9D1 JHH7 Focal_Amplification CNA MAPK7 JHH7 Focal_Amplification CNA MFAP4 JHH7 Focal_Amplification CNA RNF112 JHH7 Focal_Amplification CNA SLC47A1 JHH7 Focal_Amplification CNA ALDH3A2 JHH7 Focal_Amplification CNA SLC47A2 JHH7 Focal_Amplification CNA ALDH3A1 JHH7 Focal_Amplification CNA ULK2 JHH7 Focal_Amplification CNA AKAP10 JHH7 Focal_Amplification CNA KRT16P3 JHH7 Focal_Amplification CNA CDRT15L2 JHH7 Focal_Amplification CNA LOC100287072 JHH7 Focal_Amplification CNA CCDC144NL JHH7 Focal_Amplification CNA CCDC144NL-AS1 JHH7 Focal_Amplification CNA LOC339260 JHH7 Focal_Amplification CNA USP22 JHH7 Focal_Amplification CNA LINC01563 JHH7 Focal_Amplification CNA DHRS7B JHH7 Focal_Amplification CNA TMEM11 JHH7 Focal_Amplification CNA NATD1 JHH7 Focal_Amplification CNA MAP2K3 JHH7 Focal_Amplification CNA KCNJ12 JHH7 Focal_Amplification CNA KCNJ18 JHH7 Focal_Amplification CNA C17orf51 JHH7 Focal_Amplification CNA FAM27E5 JHH7 Focal_Amplification CNA FLJ36000 JHH7 Focal_Amplification CNA PWRN4 JHH7 Focal_Amplification CNA PWRN2 JHH7 Focal_Amplification CNA PWRN3 JHH7 Focal_Amplification CNA PWRN1 JHH7 Focal_Amplification CNA TTC6 JHH7 Focal_Amplification CNA LINC00517 JHH7 Focal_Amplification CNA SSTR1 JHH7 Focal_Amplification CNA CLEC14A JHH7 Focal_Amplification CNA LINC00639 JHH7 Focal_Amplification CNA LOC105370457 JHH7 Focal_Amplification CNA PPP6R3 JHH7 Focal_Amplification CNA GAL JHH7 Focal_Amplification CNA MTL5 JHH7 Focal_Amplification CNA CPT1A JHH7 Focal_Amplification CNA MRPL21 JHH7 Focal_Amplification CNA MRGPRD JHH7 Focal_Amplification CNA MRGPRF JHH7 Focal_Amplification CNA MRGPRF-AS1 JHH7 Focal_Amplification CNA MIR3164 JHH7 Focal_Amplification CNA LOC338694 JHH7 Focal_Amplification CNA LOC102724265 JHH7 Focal_Amplification CNA LINC01488 JHH7 Focal_Amplification CNA LOC101928443 JHH7 Focal_Amplification CNA ANO1-AS2 JHH7 Focal_Amplification CNA FADD JHH7 Focal_Amplification CNA PPFIA1 JHH7 Focal_Amplification CNA MIR548K JHH7 Focal_Amplification CNA CTTN JHH7 Focal_Amplification CNA SHANK2 JHH7 Focal_Amplification CNA MIR9-3HG JHH7 Focal_Amplification CNA LINC00928 JHH7 Focal_Amplification CNA CRAT37 JHH7 Focal_Amplification CNA LOC104613533 JHH7 Focal_Amplification CNA LINC01578 JHH7 Focal_Amplification CNA LINC01580 JHH7 Focal_Amplification CNA LINC01197 JHH7 Focal_Amplification CNA LINC00924 JHH7 Focal_Amplification CNA SPATA8-AS1 JHH7 Focal_Amplification CNA LUNAR1 JHH7 Focal_Amplification CNA PCSK6-AS1 JHH7 Focal_Amplification CNA LOC100130476 JHH7 Focal_Amplification CNA PERP JHH7 Focal_Amplification CNA ARFGEF3 JHH7 Focal_Amplification CNA PBOV1 JHH7 Focal_Amplification CNA HEBP2 JHH7 Focal_Amplification CNA NHSL1 JHH7 Focal_Amplification CNA FLJ46906 JHH7 Focal_Amplification CNA GVQW2 JHH7 Focal_Amplification CNA CCDC28A JHH7 Focal_Amplification CNA REPS1 JHH7 Focal_Amplification CNA ABRACL JHH7 Focal_Amplification CNA HECA JHH7 Focal_Amplification CNA TXLNB JHH7 Focal_Amplification CNA CITED2 JHH7 Focal_Amplification CNA LINC01625 JHH7 Focal_Amplification CNA LOC100132735 JHH7 Focal_Amplification CNA LOC100507477 JHH7 Focal_Amplification CNA LOC103352541 JHH7 Focal_Amplification CNA NMBR JHH7 Focal_Amplification CNA VTA1 JHH7 Focal_Amplification CNA ADGRG6 JHH7 Focal_Amplification CNA LOC153910 JHH7 Focal_Amplification CNA HIVEP2 JHH7 Focal_Amplification CNA LINC01277 JHH7 Focal_Amplification CNA AIG1 JHH7 Focal_Amplification CNA PHACTR2-AS1 JHH7 Focal_Amplification CNA HYMAI JHH7 Focal_Amplification CNA MEAT6 JHH7 Focal_Amplification CNA LINC00473 JHH7 Focal_Amplification CNA LINC00602 JHH7 Focal_Amplification CNA T JHH7 Focal_Amplification CNA LOC101929297 JHH7 Focal_Amplification CNA PRR18 JHH7 Focal_Amplification CNA SFT2D1 JHH7 Focal_Amplification CNA LOC100289495 JHH7 Focal_Amplification CNA MPC1 JHH7 Focal_Amplification CNA RPS6KA2 JHH7 Focal_Amplification CNA RPS6KA2-IT1 JHH7 Focal_Amplification CNA RPS6KA2-AS1 JHH7 Focal_Amplification CNA RNASET2 JHH7 Focal_Amplification CNA MIR3939 JHH7 Focal_Amplification CNA CCR6 JHH7 Focal_Amplification CNA GPR31 JHH7 Focal_Amplification CNA LOC105378123 JHH7 Focal_Amplification CNA UNC93A JHH7 Focal_Amplification CNA TTLL2 JHH7 Focal_Amplification CNA TCP10 JHH7 Focal_Amplification CNA LOC105378127 JHH7 Focal_Amplification CNA LOC401286 SNU354 Focal_Amplification CNA ORAOV1 SNU354 Focal_Amplification CNA FGF4 SNU354 Focal_Amplification CNA FGF3 SNU354 Focal_Amplification CNA ANO1 SNU354 Focal_Amplification CNA CCND1 SNU354 Focal_Amplification CNA FGF19 SNU354 Focal_Amplification CNA SIRPB1 SNU354 Focal_Amplification CNA LOC101928443 SNU354 Focal_Amplification CNA ANO1-AS2 SNU354 Focal_Amplification CNA FADD SNU354 Focal_Amplification CNA PPFIA1 SNU354 Focal_Amplification CNA MIR548K SNU368 Focal_Amplification CNA ARNT SNU368 Focal_Amplification CNA MLLT11 SNU368 Focal_Amplification CNA TPM3 SNU368 Focal_Amplification CNA MUC1 SNU368 Focal_Amplification CNA SDHC SNU368 Focal_Amplification CNA PMS1 SNU368 Focal_Amplification CNA NFE2L2 SNU368 Focal_Amplification CNA PRKRA SNU368 Focal_Amplification CNA SIRPB1 SNU368 Focal_Amplification CNA LINC01201 SNU368 Focal_Amplification CNA FIRRE SNU368 Focal_Amplification CNA LINC00629 SNU368 Focal_Amplification CNA PLAC1 SNU368 Focal_Amplification CNA CT45A10 SNU368 Focal_Amplification CNA LINC00892 SNU368 Focal_Amplification CNA RPRD2 SNU368 Focal_Amplification CNA TARS2 SNU368 Focal_Amplification CNA MIR6878 SNU368 Focal_Amplification CNA ECM1 SNU368 Focal_Amplification CNA FALEC SNU368 Focal_Amplification CNA ADAMTSL4 SNU368 Focal_Amplification CNA MIR4257 SNU368 Focal_Amplification CNA ADAMTSL4-AS1 SNU368 Focal_Amplification CNA MCL1 SNU368 Focal_Amplification CNA ENSA SNU368 Focal_Amplification CNA GOLPH3L SNU368 Focal_Amplification CNA HORMAD1 SNU368 Focal_Amplification CNA CTSS SNU368 Focal_Amplification CNA CTSK SNU368 Focal_Amplification CNA SETDB1 SNU368 Focal_Amplification CNA CERS2 SNU368 Focal_Amplification CNA ANXA9 SNU368 Focal_Amplification CNA FAM63A SNU368 Focal_Amplification CNA PRUNE SNU368 Focal_Amplification CNA BNIPL SNU368 Focal_Amplification CNA C1orf56 SNU368 Focal_Amplification CNA CDC42SE1 SNU368 Focal_Amplification CNA GABPB2 SNU368 Focal_Amplification CNA SEMA6C SNU368 Focal_Amplification CNA TNFAIP8L2-SCNM1 SNU368 Focal_Amplification CNA TNFAIP8L2 SNU368 Focal_Amplification CNA LYSMD1 SNU368 Focal_Amplification CNA SCNM1 SNU368 Focal_Amplification CNA TMOD4 SNU368 Focal_Amplification CNA VPS72 SNU368 Focal_Amplification CNA PIP5K1A SNU368 Focal_Amplification CNA PSMD4 SNU368 Focal_Amplification CNA ZNF687 SNU368 Focal_Amplification CNA PI4KB SNU368 Focal_Amplification CNA RFX5 SNU368 Focal_Amplification CNA SELENBP1 SNU368 Focal_Amplification CNA PSMB4 SNU368 Focal_Amplification CNA POGZ SNU368 Focal_Amplification CNA CGN SNU368 Focal_Amplification CNA TUFT1 SNU368 Focal_Amplification CNA MIR554 SNU368 Focal_Amplification CNA SNX27 SNU368 Focal_Amplification CNA CELF3 SNU368 Focal_Amplification CNA RIIAD1 SNU368 Focal_Amplification CNA MRPL9 SNU368 Focal_Amplification CNA OAZ3 SNU368 Focal_Amplification CNA TDRKH SNU368 Focal_Amplification CNA LINGO4 SNU368 Focal_Amplification CNA RORC SNU368 Focal_Amplification CNA C2CD4D SNU368 Focal_Amplification CNA LOC100132111 SNU368 Focal_Amplification CNA THEM5 SNU368 Focal_Amplification CNA THEM4 SNU368 Focal_Amplification CNA S100A10 SNU368 Focal_Amplification CNA NBPF18P SNU368 Focal_Amplification CNA S100A11 SNU368 Focal_Amplification CNA LOC100131107 SNU368 Focal_Amplification CNA TCHHL1 SNU368 Focal_Amplification CNA RPTN SNU368 Focal_Amplification CNA LCE1E SNU368 Focal_Amplification CNA SPRR2A SNU368 Focal_Amplification CNA SPRR2E SNU368 Focal_Amplification CNA SPRR2F SNU368 Focal_Amplification CNA SPRR2C SNU368 Focal_Amplification CNA SPRR2G SNU368 Focal_Amplification CNA LOC101928009 SNU368 Focal_Amplification CNA LELP1 SNU368 Focal_Amplification CNA PRR9 SNU368 Focal_Amplification CNA LOR SNU368 Focal_Amplification CNA PGLYRP3 SNU368 Focal_Amplification CNA PGLYRP4 SNU368 Focal_Amplification CNA S100A9 SNU368 Focal_Amplification CNA S100A12 SNU368 Focal_Amplification CNA S100A8 SNU368 Focal_Amplification CNA S100A7A SNU368 Focal_Amplification CNA S100A7L2 SNU368 Focal_Amplification CNA S100A7 SNU368 Focal_Amplification CNA S100A6 SNU368 Focal_Amplification CNA S100A5 SNU368 Focal_Amplification CNA S100A4 SNU368 Focal_Amplification CNA LOC101928034 SNU368 Focal_Amplification CNA S100A3 SNU368 Focal_Amplification CNA S100A2 SNU368 Focal_Amplification CNA S100A16 SNU368 Focal_Amplification CNA S100A14 SNU368 Focal_Amplification CNA S100A13 SNU368 Focal_Amplification CNA S100A1 SNU368 Focal_Amplification CNA CHTOP SNU368 Focal_Amplification CNA SNAPIN SNU368 Focal_Amplification CNA ILF2 SNU368 Focal_Amplification CNA NPR1 SNU368 Focal_Amplification CNA MIR8083 SNU368 Focal_Amplification CNA INTS3 SNU368 Focal_Amplification CNA SLC27A3 SNU368 Focal_Amplification CNA LOC343052 SNU368 Focal_Amplification CNA DENND4B SNU368 Focal_Amplification CNA CRTC2 SNU368 Focal_Amplification CNA SLC39A1 SNU368 Focal_Amplification CNA MIR6737 SNU368 Focal_Amplification CNA CREB3L4 SNU368 Focal_Amplification CNA JTB SNU368 Focal_Amplification CNA RAB13 SNU368 Focal_Amplification CNA RPS27 SNU368 Focal_Amplification CNA MIR190B SNU368 Focal_Amplification CNA C1orf189 SNU368 Focal_Amplification CNA C1orf43 SNU368 Focal_Amplification CNA UBAP2L SNU368 Focal_Amplification CNA HAX1 SNU368 Focal_Amplification CNA AQP10 SNU368 Focal_Amplification CNA ATP8B2 SNU368 Focal_Amplification CNA IL6R SNU368 Focal_Amplification CNA SHE SNU368 Focal_Amplification CNA TDRD10 SNU368 Focal_Amplification CNA UBE2Q1 SNU368 Focal_Amplification CNA UBE2Q1-AS1 SNU368 Focal_Amplification CNA CHRNB2 SNU368 Focal_Amplification CNA ADAR SNU368 Focal_Amplification CNA KCNN3 SNU368 Focal_Amplification CNA PMVK SNU368 Focal_Amplification CNA PBXIP1 SNU368 Focal_Amplification CNA PYGO2 SNU368 Focal_Amplification CNA SHC1 SNU368 Focal_Amplification CNA CKS1B SNU368 Focal_Amplification CNA MIR4258 SNU368 Focal_Amplification CNA FLAD1 SNU368 Focal_Amplification CNA LENEP SNU368 Focal_Amplification CNA ZBTB7B SNU368 Focal_Amplification CNA DCST2 SNU368 Focal_Amplification CNA DCST1 SNU368 Focal_Amplification CNA LOC100505666 SNU368 Focal_Amplification CNA ADAM15 SNU368 Focal_Amplification CNA EFNA4 SNU368 Focal_Amplification CNA EFNA3 SNU368 Focal_Amplification CNA EFNA1 SNU368 Focal_Amplification CNA SLC50A1 SNU368 Focal_Amplification CNA DPM3 SNU368 Focal_Amplification CNA KRTCAP2 SNU368 Focal_Amplification CNA TRIM46 SNU368 Focal_Amplification CNA THBS3 SNU368 Focal_Amplification CNA MIR9-1 SNU368 Focal_Amplification CNA DEDD SNU368 Focal_Amplification CNA UFC1 SNU368 Focal_Amplification CNA USP21 SNU368 Focal_Amplification CNA PPOX SNU368 Focal_Amplification CNA B4GALT3 SNU368 Focal_Amplification CNA ADAMTS4 SNU368 Focal_Amplification CNA NDUFS2 SNU368 Focal_Amplification CNA FCER1G SNU368 Focal_Amplification CNA APOA2 SNU368 Focal_Amplification CNA TOMM40L SNU368 Focal_Amplification CNA MIR5187 SNU368 Focal_Amplification CNA NR1I3 SNU368 Focal_Amplification CNA PCP4L1 SNU368 Focal_Amplification CNA MPZ SNU368 Focal_Amplification CNA CFAP126 SNU368 Focal_Amplification CNA FCGR2A SNU368 Focal_Amplification CNA HSPA6 SNU368 Focal_Amplification CNA FCGR3A SNU368 Focal_Amplification CNA HSPA7 SNU368 Focal_Amplification CNA FCGR3B SNU368 Focal_Amplification CNA RPL31P11 SNU368 Focal_Amplification CNA FCRLA SNU368 Focal_Amplification CNA FCRLB SNU368 Focal_Amplification CNA DUSP12 SNU368 Focal_Amplification CNA METTL8 SNU368 Focal_Amplification CNA DCAF17 SNU368 Focal_Amplification CNA CYBRD1 SNU368 Focal_Amplification CNA DYNC1I2 SNU368 Focal_Amplification CNA SLC25A12 SNU368 Focal_Amplification CNA HAT1 SNU368 Focal_Amplification CNA METAP1D SNU368 Focal_Amplification CNA DLX1 SNU368 Focal_Amplification CNA DLX2-AS1 SNU368 Focal_Amplification CNA ITGA6 SNU368 Focal_Amplification CNA PDK1 SNU368 Focal_Amplification CNA RAPGEF4-AS1 SNU368 Focal_Amplification CNA RAPGEF4 SNU368 Focal_Amplification CNA ZAK SNU368 Focal_Amplification CNA MLK7-AS1 SNU368 Focal_Amplification CNA CDCA7 SNU368 Focal_Amplification CNA SP3 SNU368 Focal_Amplification CNA OLA1 SNU368 Focal_Amplification CNA LINC01305 SNU368 Focal_Amplification CNA SP9 SNU368 Focal_Amplification CNA CIR1 SNU368 Focal_Amplification CNA SCRN3 SNU368 Focal_Amplification CNA GPR155 SNU368 Focal_Amplification CNA WIPF1 SNU368 Focal_Amplification CNA CHRNA1 SNU368 Focal_Amplification CNA CHN1 SNU368 Focal_Amplification CNA ATF2 SNU368 Focal_Amplification CNA ATP5G3 SNU368 Focal_Amplification CNA HOXD-AS2 SNU368 Focal_Amplification CNA HAGLROS SNU368 Focal_Amplification CNA MTX2 SNU368 Focal_Amplification CNA MIR1246 SNU368 Focal_Amplification CNA LINC01116 SNU368 Focal_Amplification CNA LINC01117 SNU368 Focal_Amplification CNA HNRNPA3 SNU368 Focal_Amplification CNA LOC100130691 SNU368 Focal_Amplification CNA AGPS SNU368 Focal_Amplification CNA TTC30B SNU368 Focal_Amplification CNA TTC30A SNU368 Focal_Amplification CNA PDE11A SNU368 Focal_Amplification CNA RBM45 SNU368 Focal_Amplification CNA OSBPL6 SNU368 Focal_Amplification CNA LOC101927027 SNU368 Focal_Amplification CNA DFNB59 SNU368 Focal_Amplification CNA FKBP7 SNU368 Focal_Amplification CNA PLEKHA3 SNU368 Focal_Amplification CNA CCDC141 SNU368 Focal_Amplification CNA SESTD1 SNU368 Focal_Amplification CNA ZNF385B SNU368 Focal_Amplification CNA SCHLAP1 SNU368 Focal_Amplification CNA LOC101927156 SNU368 Focal_Amplification CNA LOC101927196 SNU368 Focal_Amplification CNA LINC01473 SNU368 Focal_Amplification CNA ZC3H15 SNU368 Focal_Amplification CNA ITGAV SNU368 Focal_Amplification CNA FAM171B SNU368 Focal_Amplification CNA ZSWIM2 SNU368 Focal_Amplification CNA LINC01090 SNU368 Focal_Amplification CNA WDR75 SNU368 Focal_Amplification CNA SLC40A1 SNU368 Focal_Amplification CNA ASNSD1 SNU368 Focal_Amplification CNA ANKAR SNU368 Focal_Amplification CNA OSGEPL1 SNU368 Focal_Amplification CNA OSGEPL1-AS1 SNU368 Focal_Amplification CNA ORMDL1 SNU368 Focal_Amplification CNA LOC105747689 SNU368 Focal_Amplification CNA LOC101927406 SNU368 Focal_Amplification CNA LOC101927431 SNU368 Focal_Amplification CNA LOC101927482 SNU368 Focal_Amplification CNA ANKRD44 SNU368 Focal_Amplification CNA ANKRD44-IT1 SNU368 Focal_Amplification CNA LOC101927619 SNU368 Focal_Amplification CNA SATB2-AS1 SNU368 Focal_Amplification CNA LOC101927641 SNU368 Focal_Amplification CNA AOX2P SNU368 Focal_Amplification CNA AOX3P-AOX2P SNU368 Focal_Amplification CNA LOC100507140 SNU739 Focal_Amplification CNA IGHMBP2 SNU739 Focal_Amplification CNA TPCN2 SNU739 Focal_Amplification CNA MYEOV SNU739 Focal_Amplification CNA ORAOV1 SNU739 Focal_Amplification CNA FGF4 SNU739 Focal_Amplification CNA FGF3 SNU739 Focal_Amplification CNA ANO1 SNU739 Focal_Amplification CNA ARAP1 SNU739 Focal_Amplification CNA KDM2A SNU739 Focal_Amplification CNA CCND1 SNU739 Focal_Amplification CNA FGF19 SNU739 Focal_Amplification CNA MIR5701-1 SNU739 Focal_Amplification CNA MIR5701-2 SNU739 Focal_Amplification CNA MIR5701-3 SNU739 Focal_Amplification CNA FAM74A7 SNU739 Focal_Amplification CNA SPATA31A6 SNU739 Focal_Amplification CNA NEAT1 SNU739 Focal_Amplification CNA TSGA10IP SNU739 Focal_Amplification CNA GAL3ST3 SNU739 Focal_Amplification CNA SF3B2 SNU739 Focal_Amplification CNA PACS1 SNU739 Focal_Amplification CNA KLC2 SNU739 Focal_Amplification CNA RAB1B SNU739 Focal_Amplification CNA CNIH2 SNU739 Focal_Amplification CNA YIF1A SNU739 Focal_Amplification CNA TMEM151A SNU739 Focal_Amplification CNA CD248 SNU739 Focal_Amplification CNA RIN1 SNU739 Focal_Amplification CNA BRMS1 SNU739 Focal_Amplification CNA B4GAT1 SNU739 Focal_Amplification CNA SLC29A2 SNU739 Focal_Amplification CNA NPAS4 SNU739 Focal_Amplification CNA MRPL11 SNU739 Focal_Amplification CNA PELI3 SNU739 Focal_Amplification CNA LOC101928069 SNU739 Focal_Amplification CNA DPP3 SNU739 Focal_Amplification CNA BBS1 SNU739 Focal_Amplification CNA ZDHHC24 SNU739 Focal_Amplification CNA ACTN3 SNU739 Focal_Amplification CNA CTSF SNU739 Focal_Amplification CNA CCDC87 SNU739 Focal_Amplification CNA CCS SNU739 Focal_Amplification CNA RBM14 SNU739 Focal_Amplification CNA RBM14-RBM4 SNU739 Focal_Amplification CNA RBM4 SNU739 Focal_Amplification CNA RBM4B SNU739 Focal_Amplification CNA SPTBN2 SNU739 Focal_Amplification CNA C11orf80 SNU739 Focal_Amplification CNA RCE1 SNU739 Focal_Amplification CNA PC SNU739 Focal_Amplification CNA LRFN4 SNU739 Focal_Amplification CNA C11orf86 SNU739 Focal_Amplification CNA SYT12 SNU739 Focal_Amplification CNA MIR6860 SNU739 Focal_Amplification CNA RHOD SNU739 Focal_Amplification CNA ADRBK1 SNU739 Focal_Amplification CNA ANKRD13D SNU739 Focal_Amplification CNA SSH3 SNU739 Focal_Amplification CNA LOC100130987 SNU739 Focal_Amplification CNA POLD4 SNU739 Focal_Amplification CNA CLCF1 SNU739 Focal_Amplification CNA RAD9A SNU739 Focal_Amplification CNA PPP1CA SNU739 Focal_Amplification CNA TBC1D10C SNU739 Focal_Amplification CNA CARNS1 SNU739 Focal_Amplification CNA RPS6KB2 SNU739 Focal_Amplification CNA PTPRCAP SNU739 Focal_Amplification CNA CORO1B SNU739 Focal_Amplification CNA GPR152 SNU739 Focal_Amplification CNA CABP4 SNU739 Focal_Amplification CNA TMEM134 SNU739 Focal_Amplification CNA AIP SNU739 Focal_Amplification CNA MIR6752 SNU739 Focal_Amplification CNA PITPNM1 SNU739 Focal_Amplification CNA CDK2AP2 SNU739 Focal_Amplification CNA CABP2 SNU739 Focal_Amplification CNA GSTP1 SNU739 Focal_Amplification CNA C11orf72 SNU739 Focal_Amplification CNA NDUFV1 SNU739 Focal_Amplification CNA DOC2GP SNU739 Focal_Amplification CNA NUDT8 SNU739 Focal_Amplification CNA TBX10 SNU739 Focal_Amplification CNA ACY3 SNU739 Focal_Amplification CNA ALDH3B2 SNU739 Focal_Amplification CNA FAM86C2P SNU739 Focal_Amplification CNA MRGPRD SNU739 Focal_Amplification CNA MRGPRF SNU739 Focal_Amplification CNA MRGPRF-AS1 SNU739 Focal_Amplification CNA MIR3164 SNU739 Focal_Amplification CNA LOC338694 SNU739 Focal_Amplification CNA LOC102724265 SNU739 Focal_Amplification CNA LINC01488 SNU739 Focal_Amplification CNA LOC101928443 SNU739 Focal_Amplification CNA ANO1-AS2 SNU739 Focal_Amplification CNA FADD SNU739 Focal_Amplification CNA PPFIA1 SNU739 Focal_Amplification CNA MIR548K SNU739 Focal_Amplification CNA CTTN SNU739 Focal_Amplification CNA SHANK2 SNU739 Focal_Amplification CNA SHANK2-AS1 SNU739 Focal_Amplification CNA FOLR1 SNU739 Focal_Amplification CNA FOLR2 SNU739 Focal_Amplification CNA INPPL1 SNU739 Focal_Amplification CNA PHOX2A SNU739 Focal_Amplification CNA CLPB SNU739 Focal_Amplification CNA LINC01537 SNU739 Focal_Amplification CNA PDE2A SNU739 Focal_Amplification CNA STARD10 SNU739 Focal_Amplification CNA ATG16L2 SNU739 Focal_Amplification CNA FCHSD2 SNU739 Focal_Amplification CNA MIR4459 SNU739 Focal_Amplification CNA P2RY2 SNU739 Focal_Amplification CNA P2RY6 SNU739 Focal_Amplification CNA ARHGEF17 SNU739 Focal_Amplification CNA RELT SNU739 Focal_Amplification CNA FAM168A SNU739 Focal_Amplification CNA SPCS2 SNU739 Focal_Amplification CNA NEU3 SNU739 Focal_Amplification CNA OR2AT4 SNU739 Focal_Amplification CNA SLCO2B1 SNU739 Focal_Amplification CNA TPBGL SNU739 Focal_Amplification CNA ARRB1 SNU739 Focal_Amplification CNA MIR326 SNU739 Focal_Amplification CNA RPS3 SNU739 Focal_Amplification CNA SNORD15A SNU739 Focal_Amplification CNA SNORD15B SNU739 Focal_Amplification CNA KLHL35 SNU739 Focal_Amplification CNA GDPD5 SNU739 Focal_Amplification CNA SERPINH1 SNU739 Focal_Amplification CNA MAP6 SNU739 Focal_Amplification CNA MOGAT2 SNU739 Focal_Amplification CNA LOC283214 SNU739 Focal_Amplification CNA DGAT2 SNU739 Focal_Amplification CNA UVRAG SNU739 Focal_Amplification CNA WNT11 SNU739 Focal_Amplification CNA THAP12 SNU739 Focal_Amplification CNA LOC100506127 SNU739 Focal_Amplification CNA LRRC32 SNU739 Focal_Amplification CNA GUCY2EP SNU761 Focal_Amplification CNA WHSC1L1 SNU761 Focal_Amplification CNA WHSC1L1 SNU761 Focal_Amplification CNA FGFR1 SNU761 Focal_Amplification CNA TPCN2 SNU761 Focal_Amplification CNA MYEOV SNU761 Focal_Amplification CNA ORAOV1 SNU761 Focal_Amplification CNA FGF4 SNU761 Focal_Amplification CNA FGF3 SNU761 Focal_Amplification CNA ANO1 SNU761 Focal_Amplification CNA AKT1 SNU761 Focal_Amplification CNA TERT SNU761 Focal_Amplification CNA KDM2A SNU761 Focal_Amplification CNA CCND1 SNU761 Focal_Amplification CNA FGF19 SNU761 Focal_Amplification CNA SLC6A19 SNU761 Focal_Amplification CNA SLC6A18 SNU761 Focal_Amplification CNA OR51A2 SNU761 Focal_Amplification CNA OR52E4 SNU761 Focal_Amplification CNA RP9P SNU761 Focal_Amplification CNA PLPP5 SNU761 Focal_Amplification CNA LETM2 SNU761 Focal_Amplification CNA C8orf86 SNU761 Focal_Amplification CNA RNF5P1 SNU761 Focal_Amplification CNA TACC1 SNU761 Focal_Amplification CNA IDO1 SNU761 Focal_Amplification CNA IDO2 SNU761 Focal_Amplification CNA SNTG1 SNU761 Focal_Amplification CNA SOX17 SNU761 Focal_Amplification CNA RP1 SNU761 Focal_Amplification CNA ADRBK1 SNU761 Focal_Amplification CNA ANKRD13D SNU761 Focal_Amplification CNA SSH3 SNU761 Focal_Amplification CNA LOC100130987 SNU761 Focal_Amplification CNA POLD4 SNU761 Focal_Amplification CNA CLCF1 SNU761 Focal_Amplification CNA RAD9A SNU761 Focal_Amplification CNA PPP1CA SNU761 Focal_Amplification CNA TBC1D10C SNU761 Focal_Amplification CNA CARNS1 SNU761 Focal_Amplification CNA RPS6KB2 SNU761 Focal_Amplification CNA PTPRCAP SNU761 Focal_Amplification CNA CORO1B SNU761 Focal_Amplification CNA GPR152 SNU761 Focal_Amplification CNA TMEM134 SNU761 Focal_Amplification CNA AIP SNU761 Focal_Amplification CNA MIR6752 SNU761 Focal_Amplification CNA PITPNM1 SNU761 Focal_Amplification CNA CDK2AP2 SNU761 Focal_Amplification CNA CABP2 SNU761 Focal_Amplification CNA GSTP1 SNU761 Focal_Amplification CNA FAM86C2P SNU761 Focal_Amplification CNA UNC93B1 SNU761 Focal_Amplification CNA ALDH3B1 SNU761 Focal_Amplification CNA NDUFS8 SNU761 Focal_Amplification CNA MIR7113 SNU761 Focal_Amplification CNA MIR4691 SNU761 Focal_Amplification CNA TCIRG1 SNU761 Focal_Amplification CNA CHKA SNU761 Focal_Amplification CNA MRGPRD SNU761 Focal_Amplification CNA MRGPRF SNU761 Focal_Amplification CNA MRGPRF-AS1 SNU761 Focal_Amplification CNA MIR3164 SNU761 Focal_Amplification CNA LOC338694 SNU761 Focal_Amplification CNA LOC102724265 SNU761 Focal_Amplification CNA LINC01488 SNU761 Focal_Amplification CNA LOC101928443 SNU761 Focal_Amplification CNA ANO1-AS2 SNU761 Focal_Amplification CNA FADD SNU761 Focal_Amplification CNA PPFIA1 SNU761 Focal_Amplification CNA C14orf180 SNU761 Focal_Amplification CNA TMEM179 SNU761 Focal_Amplification CNA LOC101929634 SNU761 Focal_Amplification CNA MIR4710 SNU761 Focal_Amplification CNA INF2 SNU761 Focal_Amplification CNA ADSSL1 SNU761 Focal_Amplification CNA SIVA1 SNU761 Focal_Amplification CNA ZBTB42 SNU761 Focal_Amplification CNA LINC00638 SNU761 Focal_Amplification CNA CEP170B SNU878 Focal_Amplification CNA LRP5 SNU878 Focal_Amplification CNA IGHMBP2 SNU878 Focal_Amplification CNA TPCN2 SNU878 Focal_Amplification CNA MYEOV SNU878 Focal_Amplification CNA ORAOV1 SNU878 Focal_Amplification CNA CCND1 SNU878 Focal_Amplification CNA FGF19 SNU878 Focal_Amplification CNA RAI1-AS1 SNU878 Focal_Amplification CNA FLJ35934 SNU878 Focal_Amplification CNA KRT17P5 SNU878 Focal_Amplification CNA KRT16P3 SNU878 Focal_Amplification CNA KRT42P SNU878 Focal_Amplification CNA FOSB SNU878 Focal_Amplification CNA RTN2 SNU878 Focal_Amplification CNA MIR330 SNU878 Focal_Amplification CNA FOXA3 SNU878 Focal_Amplification CNA NANOS2 SNU878 Focal_Amplification CNA MIR769 SNU878 Focal_Amplification CNA LOC400706 SNU878 Focal_Amplification CNA LOC645553 SNU878 Focal_Amplification CNA LOC93429 SNU878 Focal_Amplification CNA DACT3-AS1 SNU878 Focal_Amplification CNA TMEM160 SNU878 Focal_Amplification CNA GLTSCR2-AS1 SNU878 Focal_Amplification CNA SEPW1 SNU878 Focal_Amplification CNA SNAR-C3 SNU878 Focal_Amplification CNA SYNGR4 SNU878 Focal_Amplification CNA MIR6798 SNU878 Focal_Amplification CNA LOC101059948 SNU878 Focal_Amplification CNA CGB3 SNU878 Focal_Amplification CNA CGB5 SNU878 Focal_Amplification CNA CGB8 SNU878 Focal_Amplification CNA CGB7 SNU878 Focal_Amplification CNA C19orf73 SNU878 Focal_Amplification CNA PTH2 SNU878 Focal_Amplification CNA SNORD33 SNU878 Focal_Amplification CNA RRAS SNU878 Focal_Amplification CNA PRMT1 SNU878 Focal_Amplification CNA MIR5088 SNU878 Focal_Amplification CNA MIR4750 SNU878 Focal_Amplification CNA FLJ26850 SNU878 Focal_Amplification CNA LOC105372440 SNU878 Focal_Amplification CNA LOC105372441 SNU878 Focal_Amplification CNA MIR99B SNU878 Focal_Amplification CNA TPM3P9 SNU878 Focal_Amplification CNA MIR512-2 SNU878 Focal_Amplification CNA MIR512-1 SNU878 Focal_Amplification CNA MIR1283-2 SNU878 Focal_Amplification CNA MIR372 SNU878 Focal_Amplification CNA NLRP12 SNU878 Focal_Amplification CNA LENG8-AS1 SNU878 Focal_Amplification CNA CDC42EP5 SNU878 Focal_Amplification CNA LOC101928804 SNU878 Focal_Amplification CNA KIR2DL1 SNU878 Focal_Amplification CNA HSPBP1 SNU878 Focal_Amplification CNA UBE2S SNU878 Focal_Amplification CNA ISOC2 SNU878 Focal_Amplification CNA U2AF2 SNU878 Focal_Amplification CNA LOC101928886 SNU878 Focal_Amplification CNA ZNF787 SNU878 Focal_Amplification CNA MIMT1 SNU878 Focal_Amplification CNA CENPBD1P1 SNU878 Focal_Amplification CNA UNC93B1 SNU878 Focal_Amplification CNA ALDH3B1 SNU878 Focal_Amplification CNA NDUFS8 SNU878 Focal_Amplification CNA MIR7113 SNU878 Focal_Amplification CNA MIR4691 SNU878 Focal_Amplification CNA TCIRG1 SNU878 Focal_Amplification CNA MIR6753 SNU878 Focal_Amplification CNA CHKA SNU878 Focal_Amplification CNA KMT5B SNU878 Focal_Amplification CNA C11orf24 SNU878 Focal_Amplification CNA PPP6R3 SNU878 Focal_Amplification CNA GAL SNU878 Focal_Amplification CNA MTL5 SNU878 Focal_Amplification CNA CPT1A SNU878 Focal_Amplification CNA MRPL21 SNU878 Focal_Amplification CNA MRGPRD SNU878 Focal_Amplification CNA MRGPRF SNU878 Focal_Amplification CNA MRGPRF-AS1 SNU878 Focal_Amplification CNA MIR3164 SNU878 Focal_Amplification CNA LOC338694 SNU878 Focal_Amplification CNA LOC102724265 SNU878 Focal_Amplification CNA LINC01488 SNU886 Focal_Amplification CNA IGHMBP2 SNU886 Focal_Amplification CNA TPCN2 SNU886 Focal_Amplification CNA MYEOV SNU886 Focal_Amplification CNA ORAOV1 SNU886 Focal_Amplification CNA CCND1 SNU886 Focal_Amplification CNA FGF19 SNU886 Focal_Amplification CNA DEFA1B SNU886 Focal_Amplification CNA DEFA1 SNU886 Focal_Amplification CNA DEFA3 SNU886 Focal_Amplification CNA FAM66B SNU886 Focal_Amplification CNA DEFB109P1B SNU886 Focal_Amplification CNA USP17L4 SNU886 Focal_Amplification CNA NBEAP1 SNU886 Focal_Amplification CNA LOC101927079 SNU886 Focal_Amplification CNA LOC727924 SNU886 Focal_Amplification CNA OR4N4 SNU886 Focal_Amplification CNA REREP3 SNU886 Focal_Amplification CNA PPP6R3 SNU886 Focal_Amplification CNA GAL SNU886 Focal_Amplification CNA MTL5 SNU886 Focal_Amplification CNA CPT1A SNU886 Focal_Amplification CNA MRPL21 SNU886 Focal_Amplification CNA MRGPRD SNU886 Focal_Amplification CNA MRGPRF SNU886 Focal_Amplification CNA MRGPRF-AS1 SNU886 Focal_Amplification CNA MIR3164 SNU886 Focal_Amplification CNA LOC338694 SNU886 Focal_Amplification CNA LOC102724265 SNU886 Focal_Amplification CNA LINC01488 MHCC97H Focal_Amplification CNA TPM3 MHCC97H Focal_Amplification CNA MUC1 MHCC97H Focal_Amplification CNA LMNA MHCC97H Focal_Amplification CNA PRCC MHCC97H Focal_Amplification CNA NTRK1 MHCC97H Focal_Amplification CNA MET MHCC97H Focal_Amplification CNA CNTN6 MHCC97H Focal_Amplification CNA CNTN4 MHCC97H Focal_Amplification CNA CNTN4-AS2 MHCC97H Focal_Amplification CNA SETMAR MHCC97H Focal_Amplification CNA SUMF1 MHCC97H Focal_Amplification CNA ITPR1-AS1 MHCC97H Focal_Amplification CNA ITPR1 MHCC97H Focal_Amplification CNA EGOT MHCC97H Focal_Amplification CNA BHLHE40-AS1 MHCC97H Focal_Amplification CNA BHLHE40 MHCC97H Focal_Amplification CNA ARL8B MHCC97H Focal_Amplification CNA LOC146880 MHCC97H Focal_Amplification CNA MIR6080 MHCC97H Focal_Amplification CNA PLEKHM1P1 MHCC97H Focal_Amplification CNA MIR4315-1 MHCC97H Focal_Amplification CNA MIR4315-2 MHCC97H Focal_Amplification CNA KCTD2 MHCC97H Focal_Amplification CNA ARMC7 MHCC97H Focal_Amplification CNA NT5C MHCC97H Focal_Amplification CNA HN1 MHCC97H Focal_Amplification CNA GGA3 MHCC97H Focal_Amplification CNA MRPS7 MHCC97H Focal_Amplification CNA GRB2 MHCC97H Focal_Amplification CNA LOC101928012 MHCC97H Focal_Amplification CNA HRAT17 MHCC97H Focal_Amplification CNA PPP1R3A MHCC97H Focal_Amplification CNA FOXP2 MHCC97H Focal_Amplification CNA MDFIC MHCC97H Focal_Amplification CNA LINC01393 MHCC97H Focal_Amplification CNA LINC01392 MHCC97H Focal_Amplification CNA TFEC MHCC97H Focal_Amplification CNA TES MHCC97H Focal_Amplification CNA LOC102724434 MHCC97H Focal_Amplification CNA CAV2 MHCC97H Focal_Amplification CNA CAV1 MHCC97H Focal_Amplification CNA PDZK1 MHCC97H Focal_Amplification CNA NBPF13P MHCC97H Focal_Amplification CNA LOC101927468 MHCC97H Focal_Amplification CNA HIST2H2BF MHCC97H Focal_Amplification CNA HIST2H3D MHCC97H Focal_Amplification CNA HIST2H2BE MHCC97H Focal_Amplification CNA PLEKHO1 MHCC97H Focal_Amplification CNA LOC105371433 MHCC97H Focal_Amplification CNA APH1A MHCC97H Focal_Amplification CNA C1orf54 MHCC97H Focal_Amplification CNA FALEC MHCC97H Focal_Amplification CNA ADAMTSL4 MHCC97H Focal_Amplification CNA MIR4257 MHCC97H Focal_Amplification CNA ADAMTSL4-AS1 MHCC97H Focal_Amplification CNA ENSA MHCC97H Focal_Amplification CNA CERS2 MHCC97H Focal_Amplification CNA ANXA9 MHCC97H Focal_Amplification CNA FAM63A MHCC97H Focal_Amplification CNA PRUNE MHCC97H Focal_Amplification CNA BNIPL MHCC97H Focal_Amplification CNA CDC42SE1 MHCC97H Focal_Amplification CNA GABPB2 MHCC97H Focal_Amplification CNA SEMA6C MHCC97H Focal_Amplification CNA TNFAIP8L2-SCNM1 MHCC97H Focal_Amplification CNA LYSMD1 MHCC97H Focal_Amplification CNA SCNM1 MHCC97H Focal_Amplification CNA TMOD4 MHCC97H Focal_Amplification CNA VPS72 MHCC97H Focal_Amplification CNA PIP5K1A MHCC97H Focal_Amplification CNA PSMD4 MHCC97H Focal_Amplification CNA PI4KB MHCC97H Focal_Amplification CNA RFX5 MHCC97H Focal_Amplification CNA GBAT2 MHCC97H Focal_Amplification CNA SELENBP1 MHCC97H Focal_Amplification CNA CGN MHCC97H Focal_Amplification CNA TUFT1 MHCC97H Focal_Amplification CNA SNX27 MHCC97H Focal_Amplification CNA CELF3 MHCC97H Focal_Amplification CNA OAZ3 MHCC97H Focal_Amplification CNA C2CD4D MHCC97H Focal_Amplification CNA LOC100132111 MHCC97H Focal_Amplification CNA THEM4 MHCC97H Focal_Amplification CNA S100A11 MHCC97H Focal_Amplification CNA LOC100131107 MHCC97H Focal_Amplification CNA TCHH MHCC97H Focal_Amplification CNA RPTN MHCC97H Focal_Amplification CNA LCE5A MHCC97H Focal_Amplification CNA LCE1E MHCC97H Focal_Amplification CNA LCE6A MHCC97H Focal_Amplification CNA SPRR2F MHCC97H Focal_Amplification CNA LOC101928009 MHCC97H Focal_Amplification CNA LOR MHCC97H Focal_Amplification CNA S100A12 MHCC97H Focal_Amplification CNA S100A8 MHCC97H Focal_Amplification CNA S100A7L2 MHCC97H Focal_Amplification CNA S100A7 MHCC97H Focal_Amplification CNA S100A6 MHCC97H Focal_Amplification CNA S100A5 MHCC97H Focal_Amplification CNA LOC101928034 MHCC97H Focal_Amplification CNA S100A2 MHCC97H Focal_Amplification CNA S100A16 MHCC97H Focal_Amplification CNA S100A14 MHCC97H Focal_Amplification CNA S100A13 MHCC97H Focal_Amplification CNA S100A1 MHCC97H Focal_Amplification CNA INTS3 MHCC97H Focal_Amplification CNA SLC27A3 MHCC97H Focal_Amplification CNA LOC343052 MHCC97H Focal_Amplification CNA CRTC2 MHCC97H Focal_Amplification CNA MIR6737 MHCC97H Focal_Amplification CNA CREB3L4 MHCC97H Focal_Amplification CNA RAB13 MHCC97H Focal_Amplification CNA RPS27 MHCC97H Focal_Amplification CNA MIR190B MHCC97H Focal_Amplification CNA C1orf189 MHCC97H Focal_Amplification CNA HAX1 MHCC97H Focal_Amplification CNA AQP10 MHCC97H Focal_Amplification CNA ATP8B2 MHCC97H Focal_Amplification CNA IL6R MHCC97H Focal_Amplification CNA TDRD10 MHCC97H Focal_Amplification CNA UBE2Q1-AS1 MHCC97H Focal_Amplification CNA KCNN3 MHCC97H Focal_Amplification CNA PBXIP1 MHCC97H Focal_Amplification CNA SHC1 MHCC97H Focal_Amplification CNA CKS1B MHCC97H Focal_Amplification CNA MIR4258 MHCC97H Focal_Amplification CNA FLAD1 MHCC97H Focal_Amplification CNA LENEP MHCC97H Focal_Amplification CNA ZBTB7B MHCC97H Focal_Amplification CNA DCST2 MHCC97H Focal_Amplification CNA LOC100505666 MHCC97H Focal_Amplification CNA EFNA3 MHCC97H Focal_Amplification CNA SLC50A1 MHCC97H Focal_Amplification CNA KRTCAP2 MHCC97H Focal_Amplification CNA TRIM46 MHCC97H Focal_Amplification CNA THBS3 MHCC97H Focal_Amplification CNA FAM189B MHCC97H Focal_Amplification CNA SCAMP3 MHCC97H Focal_Amplification CNA CLK2 MHCC97H Focal_Amplification CNA HCN3 MHCC97H Focal_Amplification CNA PKLR MHCC97H Focal_Amplification CNA FDPS MHCC97H Focal_Amplification CNA RUSC1-AS1 MHCC97H Focal_Amplification CNA RUSC1 MHCC97H Focal_Amplification CNA POU5F1P4 MHCC97H Focal_Amplification CNA ASH1L-AS1 MHCC97H Focal_Amplification CNA YY1AP1 MHCC97H Focal_Amplification CNA SCARNA26A MHCC97H Focal_Amplification CNA SCARNA26B MHCC97H Focal_Amplification CNA SNORA80E MHCC97H Focal_Amplification CNA ARHGEF2 MHCC97H Focal_Amplification CNA MIR6738 MHCC97H Focal_Amplification CNA SSR2 MHCC97H Focal_Amplification CNA LAMTOR2 MHCC97H Focal_Amplification CNA RAB25 MHCC97H Focal_Amplification CNA MEX3A MHCC97H Focal_Amplification CNA SEMA4A MHCC97H Focal_Amplification CNA SLC25A44 MHCC97H Focal_Amplification CNA BGLAP MHCC97H Focal_Amplification CNA PAQR6 MHCC97H Focal_Amplification CNA SMG5 MHCC97H Focal_Amplification CNA GLMP MHCC97H Focal_Amplification CNA TSACC MHCC97H Focal_Amplification CNA C1orf61 MHCC97H Focal_Amplification CNA MIR9-1 MHCC97H Focal_Amplification CNA MEF2D MHCC97H Focal_Amplification CNA IQGAP3 MHCC97H Focal_Amplification CNA APOA1BP MHCC97H Focal_Amplification CNA GPATCH4 MHCC97H Focal_Amplification CNA LOC101928177 MHCC97H Focal_Amplification CNA HAPLN2 MHCC97H Focal_Amplification CNA BCAN MHCC97H Focal_Amplification CNA NES MHCC97H Focal_Amplification CNA ISG20L2 MHCC97H Focal_Amplification CNA MRPL24 MHCC97H Focal_Amplification CNA HDGF MHCC97H Focal_Amplification CNA INSRR MHCC97H Focal_Amplification CNA LRRC71 MHCC97H Focal_Amplification CNA ETV3L HepG2 Homozygous_Deletion CNA USP17L2 HepG2 Homozygous_Deletion CNA ADAM3A Hep3B Homozygous_Deletion CNA TP53 Hep3B Homozygous_Deletion CNA SHBG Hep3B Homozygous_Deletion CNA SAT2 Hep3B Homozygous_Deletion CNA RPS6KA3 Hep3B Homozygous_Deletion CNA ATP1B2 Hep3B Homozygous_Deletion CNA KLRC2 Hep3B Homozygous_Deletion CNA FAM66D Hep3B Homozygous_Deletion CNA USP17L2 Hep3B Homozygous_Deletion CNA FAM90A2P Hep3B Homozygous_Deletion CNA LACC1 Hep3B Homozygous_Deletion CNA OR7E5P Hep3B Homozygous_Deletion CNA PCDH17 Hep3B Homozygous_Deletion CNA DIAPH3 Hep3B Homozygous_Deletion CNA PCDH20 Hep3B Homozygous_Deletion CNA PCDH9 Hep3B Homozygous_Deletion CNA LINC01572 Hep3B Homozygous_Deletion CNA HSD3BP4 Hep3B Homozygous_Deletion CNA LINC00622 HepaRG Homozygous_Deletion CNA OR4F5 HepaRG Homozygous_Deletion CNA RASSF8-AS1 B1 Homozygous_Deletion CNA PRB1 B1 Homozygous_Deletion CNA CCDC183 B1 Homozygous_Deletion CNA CCDC183-AS1 B1 Homozygous_Deletion CNA RABL6 B1 Homozygous_Deletion CNA MIR4292 B1 Homozygous_Deletion CNA C9orf172 B1 Homozygous_Deletion CNA PHPT1 B1 Homozygous_Deletion CNA MAMDC4 B1 Homozygous_Deletion CNA EDF1 HCC-1.2 Homozygous_Deletion CNA MTAP HCC-1.2 Homozygous_Deletion CNA LHPP HCC-1.2 Homozygous_Deletion CNA CDKN2A HCC-1.2 Homozygous_Deletion CNA FOCAD HCC-1.2 Homozygous_Deletion CNA HACD4 HCC-1.2 Homozygous_Deletion CNA IFNW1 HCC-1.2 Homozygous_Deletion CNA IFNA21 HCC-1.2 Homozygous_Deletion CNA IFNA4 HCC-1.2 Homozygous_Deletion CNA IFNA7 HCC-1.2 Homozygous_Deletion CNA IFNA10 HCC-1.2 Homozygous_Deletion CNA IFNA16 HCC-1.2 Homozygous_Deletion CNA IFNA14 HCC-1.2 Homozygous_Deletion CNA KLHL9 HCC-1.2 Homozygous_Deletion CNA IFNA13 HCC-1.2 Homozygous_Deletion CNA IFNA8 HCC-1.2 Homozygous_Deletion CNA IFNA1 HCC-1.2 Homozygous_Deletion CNA MIR31HG HCC-1.2 Homozygous_Deletion CNA CDKN2B-AS1 HCC-1.2 Homozygous_Deletion CNA OR4N4 HCC-1.2 Homozygous_Deletion CNA DMRTA1 HCC-1.2 Homozygous_Deletion CNA LINC01239 HCC-1.2 Homozygous_Deletion CNA LOC101929563 HCC-1.2 Homozygous_Deletion CNA ELAVL2 HCC-1.2 Homozygous_Deletion CNA NKX1-2 HCC-1.2 Homozygous_Deletion CNA OR2M2 HCC-1.2 Homozygous_Deletion CNA OR2M3 HCC-1.2 Homozygous_Deletion CNA OR2M4 HCC-1.2 Homozygous_Deletion CNA OR2M7 HCC-1.2 Homozygous_Deletion CNA OR14C36 HCC-1.2 Homozygous_Deletion CNA OR2T4 HCC-1.2 Homozygous_Deletion CNA OR2T6 HCC-1.2 Homozygous_Deletion CNA OR2T1 HCC-3 Homozygous_Deletion CNA MRGPRG HCC-3 Homozygous_Deletion CNA AXIN1 HCC-3 Homozygous_Deletion CNA MRGPRG-AS1 HCC-3 Homozygous_Deletion CNA ADGRL3 HCC-1.1 Homozygous_Deletion CNA ZNF658 HCC-1.1 Homozygous_Deletion CNA AXIN1 HCC-1.1 Homozygous_Deletion CNA ZNF658 HCC-1.1 Homozygous_Deletion CNA SPTB HCC-1.1 Homozygous_Deletion CNA NPRL3 HCC-1.1 Homozygous_Deletion CNA HBZ HCC-1.1 Homozygous_Deletion CNA HBM HCC-1.1 Homozygous_Deletion CNA HBA1 HCC-1.1 Homozygous_Deletion CNA HBQ1 HCC-1.1 Homozygous_Deletion CNA LUC7L HCC-1.1 Homozygous_Deletion CNA FAM234A HCC-1.1 Homozygous_Deletion CNA RGS11 HCC-1.1 Homozygous_Deletion CNA ARHGDIG HCC-1.1 Homozygous_Deletion CNA PDIA2 HCC-1.1 Homozygous_Deletion CNA FAM66B HCC-1.1 Homozygous_Deletion CNA USP17L4 HCC-1.1 Homozygous_Deletion CNA KLRC2 HCC-1.1 Homozygous_Deletion CNA LOC101928804 HCC-1.1 Homozygous_Deletion CNA ARID4A HCC-1.1 Homozygous_Deletion CNA LOC102723968 HCC-1.1 Homozygous_Deletion CNA TRPM3 HCC-1.1 Homozygous_Deletion CNA MIR204 HCC-1.1 Homozygous_Deletion CNA LOC105378183 SNU182 Homozygous_Deletion CNA FAM66D SNU182 Homozygous_Deletion CNA USP17L7 SNU182 Homozygous_Deletion CNA USP17L2 SNU182 Homozygous_Deletion CNA ERLIN2 SNU182 Homozygous_Deletion CNA LOC728024 SNU182 Homozygous_Deletion CNA ADGRA2 SNU182 Homozygous_Deletion CNA BRF2 SNU182 Homozygous_Deletion CNA RAB11FIP1 SNU182 Homozygous_Deletion CNA GOT1L1 SNU182 Homozygous_Deletion CNA ADRB3 SNU182 Homozygous_Deletion CNA EIF4EBP1 SNU182 Homozygous_Deletion CNA DENND6B SNU182 Homozygous_Deletion CNA PPP6R2 SNU182 Homozygous_Deletion CNA SBF1 SNU182 Homozygous_Deletion CNA ADM2 SNU182 Homozygous_Deletion CNA MIOX SNU182 Homozygous_Deletion CNA LMF2 SNU182 Homozygous_Deletion CNA NCAPH2 SNU182 Homozygous_Deletion CNA SCO2 SNU182 Homozygous_Deletion CNA TYMP SNU182 Homozygous_Deletion CNA ODF3B SNU182 Homozygous_Deletion CNA KLHDC7B SNU182 Homozygous_Deletion CNA SYCE3 SNU182 Homozygous_Deletion CNA CPT1B SNU182 Homozygous_Deletion CNA CHKB-CPT1B SNU182 Homozygous_Deletion CNA CHKB SNU182 Homozygous_Deletion CNA CHKB-AS1 SNU182 Homozygous_Deletion CNA MAPK8IP2 SNU182 Homozygous_Deletion CNA PRSS3P2 SNU182 Homozygous_Deletion CNA RXFP1 SNU182 Homozygous_Deletion CNA C4orf46 SNU182 Homozygous_Deletion CNA ETFDH SNU182 Homozygous_Deletion CNA PPID SNU182 Homozygous_Deletion CNA NPY1R SNU182 Homozygous_Deletion CNA NPY5R SNU182 Homozygous_Deletion CNA TKTL2 SNU182 Homozygous_Deletion CNA LINC01207 SNU182 Homozygous_Deletion CNA TRIM60 SNU182 Homozygous_Deletion CNA TMEM192 SNU182 Homozygous_Deletion CNA CBR4 SNU182 Homozygous_Deletion CNA NEK1 SNU182 Homozygous_Deletion CNA CLCN3 SNU182 Homozygous_Deletion CNA C4orf27 SNU182 Homozygous_Deletion CNA LOC101930370 SNU182 Homozygous_Deletion CNA CEP44 SNU182 Homozygous_Deletion CNA HPGD SNU182 Homozygous_Deletion CNA GPM6A SNU182 Homozygous_Deletion CNA WDR17 SNU182 Homozygous_Deletion CNA NEIL3 SNU182 Homozygous_Deletion CNA CDKN2AIP SNU182 Homozygous_Deletion CNA ING2 SNU182 Homozygous_Deletion CNA TRAPPC11 SNU182 Homozygous_Deletion CNA ENPP6 SNU182 Homozygous_Deletion CNA LOC728175 SNU182 Homozygous_Deletion CNA PRIMPOL SNU182 Homozygous_Deletion CNA CENPU SNU182 Homozygous_Deletion CNA ACSL1 SNU182 Homozygous_Deletion CNA CFAP97 SNU182 Homozygous_Deletion CNA SNX25 SNU182 Homozygous_Deletion CNA LRP2BP SNU182 Homozygous_Deletion CNA UFSP2 SNU182 Homozygous_Deletion CNA CCDC110 SNU182 Homozygous_Deletion CNA PDLIM3 SNU182 Homozygous_Deletion CNA TLR3 SNU182 Homozygous_Deletion CNA FAM149A SNU182 Homozygous_Deletion CNA KLKB1 SNU182 Homozygous_Deletion CNA F11 SNU182 Homozygous_Deletion CNA F11-AS1 SNU182 Homozygous_Deletion CNA MTNR1A SNU182 Homozygous_Deletion CNA ZFP42 SNU182 Homozygous_Deletion CNA TRIML2 SNU182 Homozygous_Deletion CNA TRIML1 SNU182 Homozygous_Deletion CNA OR2T10 SNU182 Homozygous_Deletion CNA OR2T11 SNU387 Homozygous_Deletion CNA MTAP SNU387 Homozygous_Deletion CNA CDKN2A SNU387 Homozygous_Deletion CNA OR51A2 SNU387 Homozygous_Deletion CNA LIPI SNU387 Homozygous_Deletion CNA HSPA13 SNU387 Homozygous_Deletion CNA NRIP1 SNU387 Homozygous_Deletion CNA CHODL SNU387 Homozygous_Deletion CNA TMPRSS15 SNU387 Homozygous_Deletion CNA KLHL9 SNU387 Homozygous_Deletion CNA IFNA13 SNU387 Homozygous_Deletion CNA IFNA8 SNU387 Homozygous_Deletion CNA IFNA1 SNU387 Homozygous_Deletion CNA MIR31HG SNU387 Homozygous_Deletion CNA CDKN2B-AS1 SNU387 Homozygous_Deletion CNA LINC00320 SNU387 Homozygous_Deletion CNA NCAM2 SNU387 Homozygous_Deletion CNA DMRTA1 SNU387 Homozygous_Deletion CNA LINC01239 SNU387 Homozygous_Deletion CNA LOC101929563 SNU387 Homozygous_Deletion CNA ELAVL2 SNU387 Homozygous_Deletion CNA D21S2088E SNU387 Homozygous_Deletion CNA LINC00158 SNU387 Homozygous_Deletion CNA CYYR1 SNU387 Homozygous_Deletion CNA ADAMTS1 SNU387 Homozygous_Deletion CNA ADAMTS5 SNU387 Homozygous_Deletion CNA CLDN8 SNU387 Homozygous_Deletion CNA KRTAP27-1 SNU387 Homozygous_Deletion CNA KRTAP19-3 SNU387 Homozygous_Deletion CNA KRTAP6-3 SNU387 Homozygous_Deletion CNA KRTAP11-1 SNU387 Homozygous_Deletion CNA MIS18A SNU387 Homozygous_Deletion CNA OLIG1 SNU387 Homozygous_Deletion CNA LINC01426 SNU387 Homozygous_Deletion CNA CYP2A6 SNU387 Homozygous_Deletion CNA LOC101928804 SNU387 Homozygous_Deletion CNA PRSS3P2 SNU398 Homozygous_Deletion CNA TSC2 SNU398 Homozygous_Deletion CNA TSC2 SNU398 Homozygous_Deletion CNA SFRP4 SNU398 Homozygous_Deletion CNA PKD1 SNU398 Homozygous_Deletion CNA MIR1225 SNU398 Homozygous_Deletion CNA LOC105371049 SNU398 Homozygous_Deletion CNA KCNV2 SNU398 Homozygous_Deletion CNA FERD3L SNU398 Homozygous_Deletion CNA LOC101927811 SNU398 Homozygous_Deletion CNA OMG SNU398 Homozygous_Deletion CNA EVI2B SNU398 Homozygous_Deletion CNA EVI2A SNU398 Homozygous_Deletion CNA INHBA SNU398 Homozygous_Deletion CNA SNORA5B SNU398 Homozygous_Deletion CNA IGFBP3 SNU398 Homozygous_Deletion CNA UGT2B28 SNU398 Homozygous_Deletion CNA GPR150 SNU398 Homozygous_Deletion CNA RFESD SNU398 Homozygous_Deletion CNA LINC01554 SNU398 Homozygous_Deletion CNA PCSK1 SNU398 Homozygous_Deletion CNA LNPEP SNU398 Homozygous_Deletion CNA RIOK2 SNU398 Homozygous_Deletion CNA RGMB SNU398 Homozygous_Deletion CNA RGMB-AS1 SNU398 Homozygous_Deletion CNA FAM174A SNU398 Homozygous_Deletion CNA ST8SIA4 SNU398 Homozygous_Deletion CNA GIN1 SNU398 Homozygous_Deletion CNA PPIP5K2 SNU398 Homozygous_Deletion CNA C5orf30 SNU398 Homozygous_Deletion CNA NUDT12 SNU423 Homozygous_Deletion CNA ATAD3C SNU423 Homozygous_Deletion CNA ATAD3B SNU423 Homozygous_Deletion CNA MIR5701-1 SNU423 Homozygous_Deletion CNA MIR5701-2 SNU423 Homozygous_Deletion CNA MIR5701-3 SNU423 Homozygous_Deletion CNA ADAM2 SNU423 Homozygous_Deletion CNA UBTFL1 SNU423 Homozygous_Deletion CNA OR2T10 SNU423 Homozygous_Deletion CNA OR2T11 SNU449 Homozygous_Deletion CNA MLLT3 SNU449 Homozygous_Deletion CNA MLLT3 SNU449 Homozygous_Deletion CNA MTAP SNU449 Homozygous_Deletion CNA CDKN2A SNU449 Homozygous_Deletion CNA POLR3K SNU449 Homozygous_Deletion CNA RHBDF1 SNU449 Homozygous_Deletion CNA HBQ1 SNU449 Homozygous_Deletion CNA FOCAD SNU449 Homozygous_Deletion CNA HACD4 SNU449 Homozygous_Deletion CNA IFNW1 SNU449 Homozygous_Deletion CNA IFNA21 SNU449 Homozygous_Deletion CNA IFNA4 SNU449 Homozygous_Deletion CNA IFNA7 SNU449 Homozygous_Deletion CNA IFNA10 SNU449 Homozygous_Deletion CNA IFNA16 SNU449 Homozygous_Deletion CNA IFNA14 SNU449 Homozygous_Deletion CNA KLHL9 SNU449 Homozygous_Deletion CNA IFNA13 SNU449 Homozygous_Deletion CNA IFNA8 SNU449 Homozygous_Deletion CNA IFNA1 SNU449 Homozygous_Deletion CNA MIR31HG SNU449 Homozygous_Deletion CNA CDKN2B-AS1 SNU449 Homozygous_Deletion CNA DMRTA1 SNU449 Homozygous_Deletion CNA LINC01239 SNU449 Homozygous_Deletion CNA LOC101929563 SNU449 Homozygous_Deletion CNA ELAVL2 SNU449 Homozygous_Deletion CNA LOC284344 SNU449 Homozygous_Deletion CNA UBTFL1 SNU449 Homozygous_Deletion CNA EPHA7 SNU449 Homozygous_Deletion CNA MIR1260B SNU449 Homozygous_Deletion CNA PRSS3P2 SNU449 Homozygous_Deletion CNA MAP9 SNU449 Homozygous_Deletion CNA GUCY1A3 SNU449 Homozygous_Deletion CNA GUCY1B3 SNU449 Homozygous_Deletion CNA TDO2 SNU449 Homozygous_Deletion CNA GRIA2 SNU449 Homozygous_Deletion CNA FAM198B SNU449 Homozygous_Deletion CNA TMEM144 SNU449 Homozygous_Deletion CNA NPY1R SNU449 Homozygous_Deletion CNA NPY5R SNU449 Homozygous_Deletion CNA TKTL2 SNU449 Homozygous_Deletion CNA SEPT5 SNU449 Homozygous_Deletion CNA TLL1 SNU449 Homozygous_Deletion CNA AADAT SNU449 Homozygous_Deletion CNA HAND2 SNU449 Homozygous_Deletion CNA CEP44 SNU449 Homozygous_Deletion CNA HPGD SNU475 Homozygous_Deletion CNA OR51A2 SNU475 Homozygous_Deletion CNA MCPH1 SNU475 Homozygous_Deletion CNA ANGPT2 SNU475 Homozygous_Deletion CNA AXIN1 SNU475 Homozygous_Deletion CNA AGPAT5 SNU475 Homozygous_Deletion CNA PPP1R3B SNU475 Homozygous_Deletion CNA TNKS SNU475 Homozygous_Deletion CNA PRSS55 SNU475 Homozygous_Deletion CNA RP1L1 SNU475 Homozygous_Deletion CNA C8orf74 SNU475 Homozygous_Deletion CNA KLRC2 SNU475 Homozygous_Deletion CNA PINX1 SNU475 Homozygous_Deletion CNA MTMR9 SNU475 Homozygous_Deletion CNA GATA4 SNU475 Homozygous_Deletion CNA DEFB134 SNU475 Homozygous_Deletion CNA API5 SNU475 Homozygous_Deletion CNA TTC17 SNU475 Homozygous_Deletion CNA MIR670HG SNU475 Homozygous_Deletion CNA CD82 SNU475 Homozygous_Deletion CNA SYT13 SNU475 Homozygous_Deletion CNA SIGLEC14 SNU475 Homozygous_Deletion CNA TRIM48 SNU475 Homozygous_Deletion CNA OR4A16 SNU475 Homozygous_Deletion CNA OR4C15 SNU475 Homozygous_Deletion CNA OR4C16 SNU475 Homozygous_Deletion CNA HP SNU475 Homozygous_Deletion CNA UBTFL1 SNU475 Homozygous_Deletion CNA PRSS3P2 Huh7 Homozygous_Deletion CNA MAP3K1 Huh7 Homozygous_Deletion CNA FAT1 Huh7 Homozygous_Deletion CNA IRF2 Huh7 Homozygous_Deletion CNA OR51A2 Huh7 Homozygous_Deletion CNA PWRN3 Huh7 Homozygous_Deletion CNA HCG14 Huh7 Homozygous_Deletion CNA HLA-DRB5 Huh7 Homozygous_Deletion CNA HLA-DRB6 Huh7 Homozygous_Deletion CNA CES1P1 Huh7 Homozygous_Deletion CNA SETD9 Huh7 Homozygous_Deletion CNA MIER3 Huh7 Homozygous_Deletion CNA GPBP1 Huh7 Homozygous_Deletion CNA ACTBL2 Huh7 Homozygous_Deletion CNA LOC101928505 Huh7 Homozygous_Deletion CNA PLK2 Huh7 Homozygous_Deletion CNA GAPT Huh7 Homozygous_Deletion CNA LOC101928600 Huh7 Homozygous_Deletion CNA ZCCHC5 Huh7 Homozygous_Deletion CNA LPAR4 Huh7 Homozygous_Deletion CNA MIR4328 Huh7 Homozygous_Deletion CNA P2RY10 Huh7 Homozygous_Deletion CNA GPR174 Huh7 Homozygous_Deletion CNA ITM2A Huh7 Homozygous_Deletion CNA TBX22 Huh7 Homozygous_Deletion CNA FAM46D Huh7 Homozygous_Deletion CNA BRWD3 Huh7 Homozygous_Deletion CNA HMGN5 Huh7 Homozygous_Deletion CNA SH3BGRL Huh7 Homozygous_Deletion CNA POU3F4 Huh7 Homozygous_Deletion CNA CYLC1 Huh7 Homozygous_Deletion CNA RPS6KA6 Huh7 Homozygous_Deletion CNA HDX Huh7 Homozygous_Deletion CNA UBE2DNL Huh7 Homozygous_Deletion CNA APOOL Huh7 Homozygous_Deletion CNA SATL1 Huh7 Homozygous_Deletion CNA LOC101928128 Huh7 Homozygous_Deletion CNA ZNF711 Huh7 Homozygous_Deletion CNA POF1B Huh7 Homozygous_Deletion CNA CHM Huh7 Homozygous_Deletion CNA MIR361 Huh7 Homozygous_Deletion CNA DACH2 Huh7 Homozygous_Deletion CNA KLHL4 Huh7 Homozygous_Deletion CNA CPXCR1 Huh7 Homozygous_Deletion CNA TGIF2LX Huh7 Homozygous_Deletion CNA UBTFL1 Huh7 Homozygous_Deletion CNA PABPC5-AS1 Huh7 Homozygous_Deletion CNA PABPC5 Huh7 Homozygous_Deletion CNA NAP1L3 Huh7 Homozygous_Deletion CNA FAM133A Huh7 Homozygous_Deletion CNA RPA4 Huh7 Homozygous_Deletion CNA PRSS3P2 Huh7 Homozygous_Deletion CNA LINC00290 Huh7 Homozygous_Deletion CNA LOC90768 Huh7 Homozygous_Deletion CNA TENM3 Huh7 Homozygous_Deletion CNA DCTD Huh7 Homozygous_Deletion CNA WWC2 Huh7 Homozygous_Deletion CNA CLDN22 Huh7 Homozygous_Deletion CNA CLDN24 Huh7 Homozygous_Deletion CNA CDKN2AIP Huh7 Homozygous_Deletion CNA ING2 Huh7 Homozygous_Deletion CNA TRAPPC11 Huh7 Homozygous_Deletion CNA STOX2 Huh7 Homozygous_Deletion CNA ENPP6 Huh7 Homozygous_Deletion CNA LOC728175 Huh7 Homozygous_Deletion CNA PRIMPOL Huh7 Homozygous_Deletion CNA CENPU Huh7 Homozygous_Deletion CNA ACSL1 Huh7 Homozygous_Deletion CNA CFAP97 Huh7 Homozygous_Deletion CNA SNX25 Huh7 Homozygous_Deletion CNA LRP2BP Huh7 Homozygous_Deletion CNA ANKRD37 Huh7 Homozygous_Deletion CNA UFSP2 Huh7 Homozygous_Deletion CNA C4orf47 Huh7 Homozygous_Deletion CNA CCDC110 Huh7 Homozygous_Deletion CNA PDLIM3 Huh7 Homozygous_Deletion CNA SORBS2 Huh7 Homozygous_Deletion CNA TLR3 Huh7 Homozygous_Deletion CNA FAM149A Huh7 Homozygous_Deletion CNA CYP4V2 Huh7 Homozygous_Deletion CNA KLKB1 Huh7 Homozygous_Deletion CNA F11 Huh7 Homozygous_Deletion CNA F11-AS1 Huh7 Homozygous_Deletion CNA MTNR1A Huh7 Homozygous_Deletion CNA LOC339975 Huh7 Homozygous_Deletion CNA LOC100506272 Huh7 Homozygous_Deletion CNA ZFP42 Huh7 Homozygous_Deletion CNA TRIML2 Huh7 Homozygous_Deletion CNA TRIML1 Huh7 Homozygous_Deletion CNA CFHR3 Mahlavu Homozygous_Deletion CNA KCNV2 Mahlavu Homozygous_Deletion CNA OR4Q3 Mahlavu Homozygous_Deletion CNA OR4K2 Mahlavu Homozygous_Deletion CNA OR4K5 Mahlavu Homozygous_Deletion CNA OR4K1 Mahlavu Homozygous_Deletion CNA MDGA2 Mahlavu Homozygous_Deletion CNA ANTXRLP1 Mahlavu Homozygous_Deletion CNA CFHR3 PLC/PRF5 Homozygous_Deletion CNA MECOM PLC/PRF5 Homozygous_Deletion CNA MECOM PLC/PRF5 Homozygous_Deletion CNA FAM66D PLC/PRF5 Homozygous_Deletion CNA USP17L2 PLC/PRF5 Homozygous_Deletion CNA C9orf92 PLC/PRF5 Homozygous_Deletion CNA AXIN1 PLC/PRF5 Homozygous_Deletion CNA IFNA16 PLC/PRF5 Homozygous_Deletion CNA LOC284344 PLC/PRF5 Homozygous_Deletion CNA SERPINI2 PLC/PRF5 Homozygous_Deletion CNA DNAJC19 PLC/PRF5 Homozygous_Deletion CNA OR2T10 PLC/PRF5 Homozygous_Deletion CNA OR2T11 HLE Homozygous_Deletion CNA APOBEC3B HLE Homozygous_Deletion CNA APOBEC3A_B HLE Homozygous_Deletion CNA SIGLEC14 HLE Homozygous_Deletion CNA PRSS3P2 HLF Homozygous_Deletion CNA MESP2 Huh6 Homozygous_Deletion CNA STS Huh6 Homozygous_Deletion CNA STS Huh6 Homozygous_Deletion CNA VCX Huh6 Homozygous_Deletion CNA PNPLA4 Huh6 Homozygous_Deletion CNA VCX2 Huh6 Homozygous_Deletion CNA ANOS1 Huh6 Homozygous_Deletion CNA FAM9A Huh6 Homozygous_Deletion CNA FAM9B Huh6 Homozygous_Deletion CNA GPR143 Huh6 Homozygous_Deletion CNA SHROOM2 Huh6 Homozygous_Deletion CNA CLDN34 Huh6 Homozygous_Deletion CNA CLCN4 Huh6 Homozygous_Deletion CNA MID1 Huh6 Homozygous_Deletion CNA KLRC2 Huh6 Homozygous_Deletion CNA FAM66D Huh6 Homozygous_Deletion CNA USP17L7 Huh6 Homozygous_Deletion CNA USP17L2 Huh6 Homozygous_Deletion CNA FAM90A2P Huh6 Homozygous_Deletion CNA ADAM3A Li7 Homozygous_Deletion CNA MTAP Li7 Homozygous_Deletion CNA SMAD4 Li7 Homozygous_Deletion CNA CDKN2A Li7 Homozygous_Deletion CNA OR52R1 Li7 Homozygous_Deletion CNA OR51F2 Li7 Homozygous_Deletion CNA OR51S1 Li7 Homozygous_Deletion CNA OR51T1 Li7 Homozygous_Deletion CNA OR51A7 Li7 Homozygous_Deletion CNA OR51G2 Li7 Homozygous_Deletion CNA OR51G1 Li7 Homozygous_Deletion CNA OR51A4 Li7 Homozygous_Deletion CNA OR51A2 Li7 Homozygous_Deletion CNA MMP26 Li7 Homozygous_Deletion CNA OR51L1 Li7 Homozygous_Deletion CNA OR52J3 Li7 Homozygous_Deletion CNA OR52E2 Li7 Homozygous_Deletion CNA OR52A5 Li7 Homozygous_Deletion CNA OR52A1 Li7 Homozygous_Deletion CNA OR51V1 Li7 Homozygous_Deletion CNA HBB Li7 Homozygous_Deletion CNA HBD Li7 Homozygous_Deletion CNA HBBP1 Li7 Homozygous_Deletion CNA HBE1 Li7 Homozygous_Deletion CNA MRGPRX1 Li7 Homozygous_Deletion CNA CDKN2B-AS1 Li7 Homozygous_Deletion CNA HLA-DRB6 Li7 Homozygous_Deletion CNA FAM47A Li7 Homozygous_Deletion CNA MAPK4 Li7 Homozygous_Deletion CNA MRO Li7 Homozygous_Deletion CNA ME2 Li7 Homozygous_Deletion CNA ELAC1 Li7 Homozygous_Deletion CNA MEX3C Li7 Homozygous_Deletion CNA LOC100287225 Li7 Homozygous_Deletion CNA TRIM48 Li7 Homozygous_Deletion CNA CCDC102B Li7 Homozygous_Deletion CNA ARFIP1 Li7 Homozygous_Deletion CNA FHDC1 Huh1 Homozygous_Deletion CNA SMARCA2 Huh1 Homozygous_Deletion CNA SMARCA2 Huh1 Homozygous_Deletion CNA PTPRD Huh1 Homozygous_Deletion CNA NRG1 Huh1 Homozygous_Deletion CNA KDSR Huh1 Homozygous_Deletion CNA ARID1A Huh1 Homozygous_Deletion CNA KCNV2 Huh1 Homozygous_Deletion CNA GYG2 Huh1 Homozygous_Deletion CNA ARSD Huh1 Homozygous_Deletion CNA ARSE Huh1 Homozygous_Deletion CNA ARSH Huh1 Homozygous_Deletion CNA ARSF Huh1 Homozygous_Deletion CNA LINC01546 Huh1 Homozygous_Deletion CNA RFX3 Huh1 Homozygous_Deletion CNA PRKX Huh1 Homozygous_Deletion CNA PRKX-AS1 Huh1 Homozygous_Deletion CNA LOC389906 Huh1 Homozygous_Deletion CNA LOC101928201 Huh1 Homozygous_Deletion CNA NLGN4X Huh1 Homozygous_Deletion CNA PUDP Huh1 Homozygous_Deletion CNA STS Huh1 Homozygous_Deletion CNA OR5P2 Huh1 Homozygous_Deletion CNA LOC400002 Huh1 Homozygous_Deletion CNA KLRA1P Huh1 Homozygous_Deletion CNA TYRP1 Huh1 Homozygous_Deletion CNA MPDZ Huh1 Homozygous_Deletion CNA RAB28 Huh1 Homozygous_Deletion CNA LINC01097 Huh1 Homozygous_Deletion CNA NKX3-2 Huh1 Homozygous_Deletion CNA BOD1L1 Huh1 Homozygous_Deletion CNA MIR5091 Huh1 Homozygous_Deletion CNA NFIB Huh1 Homozygous_Deletion CNA ZDHHC21 Huh1 Homozygous_Deletion CNA FREM1 Huh1 Homozygous_Deletion CNA CPEB2 Huh1 Homozygous_Deletion CNA TTC39B Huh1 Homozygous_Deletion CNA C1QTNF7 Huh1 Homozygous_Deletion CNA SNAPC3 Huh1 Homozygous_Deletion CNA CC2D2A Huh1 Homozygous_Deletion CNA FBXL5 Huh1 Homozygous_Deletion CNA BST1 Huh1 Homozygous_Deletion CNA SH3GL2 Huh1 Homozygous_Deletion CNA MED28 Huh1 Homozygous_Deletion CNA DCAF16 Huh1 Homozygous_Deletion CNA NCAPG Huh1 Homozygous_Deletion CNA LCORL Huh1 Homozygous_Deletion CNA RPS6 Huh1 Homozygous_Deletion CNA INTS10 Huh1 Homozygous_Deletion CNA ATP6V1B2 Huh1 Homozygous_Deletion CNA LZTS1 Huh1 Homozygous_Deletion CNA HACD4 Huh1 Homozygous_Deletion CNA IFNA21 Huh1 Homozygous_Deletion CNA IFNA14 Huh1 Homozygous_Deletion CNA KLHL9 Huh1 Homozygous_Deletion CNA DOK2 Huh1 Homozygous_Deletion CNA SFTPC Huh1 Homozygous_Deletion CNA PDLIM2 Huh1 Homozygous_Deletion CNA DMRTA1 Huh1 Homozygous_Deletion CNA CHMP7 Huh1 Homozygous_Deletion CNA NKX3-1 Huh1 Homozygous_Deletion CNA ELAVL2 Huh1 Homozygous_Deletion CNA STC1 Huh1 Homozygous_Deletion CNA ADAM28 Huh1 Homozygous_Deletion CNA LOC101929294 Huh1 Homozygous_Deletion CNA ADAM7 Huh1 Homozygous_Deletion CNA LOC101929315 Huh1 Homozygous_Deletion CNA NEFL Huh1 Homozygous_Deletion CNA KCTD9 Huh1 Homozygous_Deletion CNA ADRA1A Huh1 Homozygous_Deletion CNA CAAP1 Huh1 Homozygous_Deletion CNA LRRC19 Huh1 Homozygous_Deletion CNA MOB3B Huh1 Homozygous_Deletion CNA IFNK Huh1 Homozygous_Deletion CNA C9orf72 Huh1 Homozygous_Deletion CNA HLA-DRB6 Huh1 Homozygous_Deletion CNA LOC101929550 Huh1 Homozygous_Deletion CNA LETM2 Huh1 Homozygous_Deletion CNA LOC284344 Huh1 Homozygous_Deletion CNA TNFRSF11A Huh1 Homozygous_Deletion CNA VPS4B Huh1 Homozygous_Deletion CNA SERPINB5 Huh1 Homozygous_Deletion CNA SERPINB13 Huh1 Homozygous_Deletion CNA SERPINB11 Huh1 Homozygous_Deletion CNA SERPINB7 Huh1 Homozygous_Deletion CNA SERPINB2 Huh1 Homozygous_Deletion CNA SERPINB10 Huh1 Homozygous_Deletion CNA SERPINB8 Huh1 Homozygous_Deletion CNA LINC00305 Huh1 Homozygous_Deletion CNA CDH7 Huh1 Homozygous_Deletion CNA CDH19 Huh1 Homozygous_Deletion CNA DSEL Huh1 Homozygous_Deletion CNA CCDC102B Huh1 Homozygous_Deletion CNA NETO1 Huh1 Homozygous_Deletion CNA LOC101927606 Huh1 Homozygous_Deletion CNA FAM69C Huh1 Homozygous_Deletion CNA CNDP1 Huh1 Homozygous_Deletion CNA ZADH2 Huh1 Homozygous_Deletion CNA MBP Huh1 Homozygous_Deletion CNA SALL3 Huh1 Homozygous_Deletion CNA CYP2U1 Huh1 Homozygous_Deletion CNA HADH Huh1 Homozygous_Deletion CNA ZBTB20 Huh1 Homozygous_Deletion CNA PRSS3P2 JHH1 Homozygous_Deletion CNA OR52N5 JHH1 Homozygous_Deletion CNA OR5P2 JHH1 Homozygous_Deletion CNA HLA-DRB6 JHH1 Homozygous_Deletion CNA UGT2B28 JHH1 Homozygous_Deletion CNA UBTFL1 JHH1 Homozygous_Deletion CNA PRSS3P2 JHH1 Homozygous_Deletion CNA FCGR1CP JHH2 Homozygous_Deletion CNA FAM66D JHH2 Homozygous_Deletion CNA USP17L7 JHH2 Homozygous_Deletion CNA USP17L2 JHH2 Homozygous_Deletion CNA HCG4B JHH2 Homozygous_Deletion CNA MRPL46 JHH2 Homozygous_Deletion CNA MIR1179 JHH2 Homozygous_Deletion CNA CFL1P1 JHH2 Homozygous_Deletion CNA KLLN JHH2 Homozygous_Deletion CNA SLCO3A1 JHH2 Homozygous_Deletion CNA ST8SIA2 JHH2 Homozygous_Deletion CNA LOC104613533 JHH2 Homozygous_Deletion CNA C15orf32 JHH2 Homozygous_Deletion CNA LINC00930 JHH2 Homozygous_Deletion CNA FAM174B JHH2 Homozygous_Deletion CNA ASB9P1 JHH2 Homozygous_Deletion CNA LINC01578 JHH2 Homozygous_Deletion CNA CHD2 JHH2 Homozygous_Deletion CNA MCTP2 JHH2 Homozygous_Deletion CNA NR2F2-AS1 JHH2 Homozygous_Deletion CNA NR2F2 JHH2 Homozygous_Deletion CNA ARRDC4 JHH2 Homozygous_Deletion CNA FARP1 JHH2 Homozygous_Deletion CNA RNF113B JHH2 Homozygous_Deletion CNA IRAIN JHH2 Homozygous_Deletion CNA IGF1R JHH2 Homozygous_Deletion CNA PGPEP1L JHH2 Homozygous_Deletion CNA LUNAR1 JHH2 Homozygous_Deletion CNA SYNM JHH2 Homozygous_Deletion CNA TTC23 JHH2 Homozygous_Deletion CNA LRRC28 JHH2 Homozygous_Deletion CNA HSP90B2P JHH4 Homozygous_Deletion CNA MYOM2 JHH4 Homozygous_Deletion CNA PCM1 JHH4 Homozygous_Deletion CNA ZNF596 JHH4 Homozygous_Deletion CNA FBXO25 JHH4 Homozygous_Deletion CNA ERICH1 JHH4 Homozygous_Deletion CNA LOC401442 JHH4 Homozygous_Deletion CNA DLGAP2 JHH4 Homozygous_Deletion CNA CLN8 JHH4 Homozygous_Deletion CNA ARHGEF10 JHH4 Homozygous_Deletion CNA KBTBD11 JHH4 Homozygous_Deletion CNA LOC101927815 JHH4 Homozygous_Deletion CNA CSMD1 JHH4 Homozygous_Deletion CNA MCPH1 JHH4 Homozygous_Deletion CNA ANGPT2 JHH4 Homozygous_Deletion CNA MCPH1-AS1 JHH4 Homozygous_Deletion CNA AGPAT5 JHH4 Homozygous_Deletion CNA XKR5 JHH4 Homozygous_Deletion CNA SGK223 JHH4 Homozygous_Deletion CNA MFHAS1 JHH4 Homozygous_Deletion CNA ERI1 JHH4 Homozygous_Deletion CNA PPP1R3B JHH4 Homozygous_Deletion CNA TNKS JHH4 Homozygous_Deletion CNA MSRA JHH4 Homozygous_Deletion CNA PRSS55 JHH4 Homozygous_Deletion CNA RP1L1 JHH4 Homozygous_Deletion CNA C8orf74 JHH4 Homozygous_Deletion CNA PINX1 JHH4 Homozygous_Deletion CNA XKR6 JHH4 Homozygous_Deletion CNA MTMR9 JHH4 Homozygous_Deletion CNA FAM167A-AS1 JHH4 Homozygous_Deletion CNA FAM167A JHH4 Homozygous_Deletion CNA BLK JHH4 Homozygous_Deletion CNA GATA4 JHH4 Homozygous_Deletion CNA C8orf49 JHH4 Homozygous_Deletion CNA NEIL2 JHH4 Homozygous_Deletion CNA FDFT1 JHH4 Homozygous_Deletion CNA CTSB JHH4 Homozygous_Deletion CNA DEFB134 JHH4 Homozygous_Deletion CNA FAM66D JHH4 Homozygous_Deletion CNA USP17L7 JHH4 Homozygous_Deletion CNA USP17L2 JHH4 Homozygous_Deletion CNA FAM90A2P JHH4 Homozygous_Deletion CNA LOC729732 JHH4 Homozygous_Deletion CNA LONRF1 JHH4 Homozygous_Deletion CNA KIAA1456 JHH4 Homozygous_Deletion CNA DLC1 JHH4 Homozygous_Deletion CNA TUSC3 JHH4 Homozygous_Deletion CNA MSR1 JHH4 Homozygous_Deletion CNA MICU3 JHH4 Homozygous_Deletion CNA ZDHHC2 JHH4 Homozygous_Deletion CNA CNOT7 JHH4 Homozygous_Deletion CNA VPS37A JHH4 Homozygous_Deletion CNA MTMR7 JHH4 Homozygous_Deletion CNA SLC7A2 JHH4 Homozygous_Deletion CNA PDGFRL JHH4 Homozygous_Deletion CNA MTUS1 JHH4 Homozygous_Deletion CNA FGL1 JHH4 Homozygous_Deletion CNA ASAH1 JHH4 Homozygous_Deletion CNA NAT1 JHH4 Homozygous_Deletion CNA NAT2 JHH4 Homozygous_Deletion CNA PSD3 JHH4 Homozygous_Deletion CNA SH2D4A JHH4 Homozygous_Deletion CNA CSGALNACT1 JHH4 Homozygous_Deletion CNA INTS10 JHH4 Homozygous_Deletion CNA LPL JHH4 Homozygous_Deletion CNA SLC18A1 JHH4 Homozygous_Deletion CNA ATP6V1B2 JHH4 Homozygous_Deletion CNA LZTS1 JHH4 Homozygous_Deletion CNA LOC286114 JHH4 Homozygous_Deletion CNA GFRA2 JHH4 Homozygous_Deletion CNA DOK2 JHH4 Homozygous_Deletion CNA XPO7 JHH4 Homozygous_Deletion CNA NPM2 JHH4 Homozygous_Deletion CNA FGF17 JHH4 Homozygous_Deletion CNA DMTN JHH4 Homozygous_Deletion CNA FAM160B2 JHH4 Homozygous_Deletion CNA NUDT18 JHH4 Homozygous_Deletion CNA HR JHH4 Homozygous_Deletion CNA REEP4 JHH4 Homozygous_Deletion CNA LGI3 JHH4 Homozygous_Deletion CNA SFTPC JHH4 Homozygous_Deletion CNA BMP1 JHH4 Homozygous_Deletion CNA PHYHIP JHH4 Homozygous_Deletion CNA POLR3D JHH4 Homozygous_Deletion CNA LOC100507071 JHH4 Homozygous_Deletion CNA PIWIL2 JHH4 Homozygous_Deletion CNA SLC39A14 JHH4 Homozygous_Deletion CNA PPP3CC JHH4 Homozygous_Deletion CNA SORBS3 JHH4 Homozygous_Deletion CNA PDLIM2 JHH4 Homozygous_Deletion CNA C8orf58 JHH4 Homozygous_Deletion CNA CCAR2 JHH4 Homozygous_Deletion CNA BIN3 JHH4 Homozygous_Deletion CNA EGR3 JHH4 Homozygous_Deletion CNA PRSS3P2 JHH5 Homozygous_Deletion CNA RERE JHH5 Homozygous_Deletion CNA VAMP3 JHH5 Homozygous_Deletion CNA PER3 JHH5 Homozygous_Deletion CNA UTS2 JHH5 Homozygous_Deletion CNA TNFRSF9 JHH5 Homozygous_Deletion CNA PARK7 JHH5 Homozygous_Deletion CNA ERRFI1 JHH5 Homozygous_Deletion CNA LOC102724539 JHH5 Homozygous_Deletion CNA SLC45A1 JHH5 Homozygous_Deletion CNA FAM66D JHH5 Homozygous_Deletion CNA USP17L7 JHH5 Homozygous_Deletion CNA USP17L2 JHH5 Homozygous_Deletion CNA PRAMEF1 JHH5 Homozygous_Deletion CNA PRAMEF11 JHH5 Homozygous_Deletion CNA HNRNPCL1 JHH5 Homozygous_Deletion CNA HNRNPCL3 JHH5 Homozygous_Deletion CNA HNRNPCL4 JHH5 Homozygous_Deletion CNA PRAMEF2 JHH5 Homozygous_Deletion CNA HLA-H JHH5 Homozygous_Deletion CNA HCG4B JHH5 Homozygous_Deletion CNA UGT2B28 JHH5 Homozygous_Deletion CNA UBTFL1 JHH5 Homozygous_Deletion CNA PRSS3P2 JHH6 Homozygous_Deletion CNA FAM66D JHH6 Homozygous_Deletion CNA USP17L7 JHH6 Homozygous_Deletion CNA USP17L2 JHH6 Homozygous_Deletion CNA HCG4B JHH6 Homozygous_Deletion CNA ADAM3A JHH6 Homozygous_Deletion CNA KIR3DL1 JHH6 Homozygous_Deletion CNA KIR2DS4 JHH6 Homozygous_Deletion CNA UGT2B28 JHH6 Homozygous_Deletion CNA PRSS3P2 JHH7 Homozygous_Deletion CNA CDC73 JHH7 Homozygous_Deletion CNA EVC2 JHH7 Homozygous_Deletion CNA EVC JHH7 Homozygous_Deletion CNA STS JHH7 Homozygous_Deletion CNA OR5P2 JHH7 Homozygous_Deletion CNA FAM66D JHH7 Homozygous_Deletion CNA USP17L7 JHH7 Homozygous_Deletion CNA USP17L2 JHH7 Homozygous_Deletion CNA TRIM48 JHH7 Homozygous_Deletion CNA PDE4D JHH7 Homozygous_Deletion CNA BMPR1B JHH7 Homozygous_Deletion CNA RGS2 JHH7 Homozygous_Deletion CNA UCHL5 JHH7 Homozygous_Deletion CNA TROVE2 JHH7 Homozygous_Deletion CNA GLRX2 JHH7 Homozygous_Deletion CNA B3GALT2 SNU354 Homozygous_Deletion CNA OR51A2 SNU354 Homozygous_Deletion CNA SIGLEC14 SNU354 Homozygous_Deletion CNA CES1P1 SNU354 Homozygous_Deletion CNA UGT2B28 SNU354 Homozygous_Deletion CNA LOC101929468 SNU354 Homozygous_Deletion CNA PRSS3P2 SNU368 Homozygous_Deletion CNA CES1P1 SNU739 Homozygous_Deletion CNA LOC284344 SNU739 Homozygous_Deletion CNA PSG9 SNU739 Homozygous_Deletion CNA UBTFL1 SNU761 Homozygous_Deletion CNA MYL12B SNU761 Homozygous_Deletion CNA MYL12B SNU761 Homozygous_Deletion CNA OR52N5 SNU761 Homozygous_Deletion CNA MIR5701-1 SNU761 Homozygous_Deletion CNA MIR5701-2 SNU761 Homozygous_Deletion CNA MIR5701-3 SNU761 Homozygous_Deletion CNA TRIM48 SNU761 Homozygous_Deletion CNA UBTFL1 SNU761 Homozygous_Deletion CNA PRSS3P2 SNU878 Homozygous_Deletion CNA AXIN1 SNU878 Homozygous_Deletion CNA FAM234A SNU878 Homozygous_Deletion CNA RGS11 SNU878 Homozygous_Deletion CNA ARHGDIG SNU878 Homozygous_Deletion CNA PDIA2 SNU878 Homozygous_Deletion CNA OR51A2 SNU878 Homozygous_Deletion CNA OR5P2 SNU878 Homozygous_Deletion CNA HLA-DQA1 SNU878 Homozygous_Deletion CNA UBTFL1 SNU878 Homozygous_Deletion CNA PRSS3P2 SNU878 Homozygous_Deletion CNA OR2T11 SNU886 Homozygous_Deletion CNA ZNF469 SNU886 Homozygous_Deletion CNA OR52N5 SNU886 Homozygous_Deletion CNA ENHO SNU886 Homozygous_Deletion CNA SNX20 SNU886 Homozygous_Deletion CNA SIGLEC14 SNU886 Homozygous_Deletion CNA IRX5 SNU886 Homozygous_Deletion CNA CES1P1 SNU886 Homozygous_Deletion CNA TPBGL SNU886 Homozygous_Deletion CNA LOC100129203 SNU886 Homozygous_Deletion CNA PRSS3P2 MHCC97H Homozygous_Deletion CNA KCNV2 MHCC97H Homozygous_Deletion CNA FAM66D MHCC97H Homozygous_Deletion CNA USP17L7 MHCC97H Homozygous_Deletion CNA USP17L2 MHCC97H Homozygous_Deletion CNA ZDHHC21 MHCC97H Homozygous_Deletion CNA HSPA13 MHCC97H Homozygous_Deletion CNA SAMSN1-AS1 MHCC97H Homozygous_Deletion CNA LOC388813 MHCC97H Homozygous_Deletion CNA BTG3 MHCC97H Homozygous_Deletion CNA C21orf91-OT1 MHCC97H Homozygous_Deletion CNA CHODL MHCC97H Homozygous_Deletion CNA TMPRSS15 MHCC97H Homozygous_Deletion CNA LRRC19 MHCC97H Homozygous_Deletion CNA SIGLEC14 MHCC97H Homozygous_Deletion CNA UBTFL1 MHCC97H Homozygous_Deletion CNA PRSS3P2 MHCC97H Homozygous_Deletion CNA STAT1 MHCC97H Homozygous_Deletion CNA STAT4