| 1 | 23759751 | C | A | | A|missense_variant|MODERATE|ASAP3|ENSG00000088280|Transcript|ENST00000336689|protein_coding|22/25||ENST00000336689.3:c.2142G>T|ENSP00000338769.3:p.Lys714Asn|2187|2142|714|K/N|aaG/aaT|||-1||HGNC|14987| |
| 1 | 33583549 | C | T | | T|missense_variant|MODERATE|ADC|ENSG00000142920|Transcript|ENST00000294517|protein_coding|11/12||ENST00000294517.6:c.1076C>T|ENSP00000294517.6:p.Pro359Leu|1663|1076|359|P/L|cCg/cTg|||1||HGNC|29957| |
| 1 | 149857864 | C | G | | G|missense_variant|MODERATE|HIST2H2BE|ENSG00000184678|Transcript|ENST00000369155|protein_coding|1/1||ENST00000369155.2:c.327G>C|ENSP00000358151.2:p.Lys109Asn|369|327|109|K/N|aaG/aaC|||-1||HGNC|4760| |
| 1 | 150686559 | A | G | | G|splice_donor_variant|HIGH|HORMAD1|ENSG00000143452|Transcript|ENST00000361824|protein_coding||5/14|ENST00000361824.2:c.279+2T>C|||||||||-1||HGNC|25245| |
| 1 | 155922598 | C | T | | T|missense_variant|MODERATE|ARHGEF2|ENSG00000116584|Transcript|ENST00000361247|protein_coding|15/22||ENST00000361247.4:c.1805G>A|ENSP00000354837.4:p.Arg602Gln|1905|1805|602|R/Q|cGg/cAg|||-1||HGNC|682| |
| 1 | 211652436 | G | A | | A|missense_variant|MODERATE|RD3|ENSG00000198570|Transcript|ENST00000367002|protein_coding|3/3||ENST00000367002.4:c.530C>T|ENSP00000355969.4:p.Thr177Ile|1694|530|177|T/I|aCa/aTa|||-1||HGNC|19689| |
| 2 | 27597301 | G | T | | T|splice_donor_variant|HIGH|SNX17|ENSG00000115234|Transcript|ENST00000233575|protein_coding||7/14|ENST00000233575.2:c.611+1G>T|||||||||1||HGNC|14979| |
| 2 | 48010482 | C | G | | G|missense_variant|MODERATE|MSH6|ENSG00000116062|Transcript|ENST00000234420|protein_coding|1/10||ENST00000234420.5:c.110C>G|ENSP00000234420.4:p.Ala37Gly|262|110|37|A/G|gCc/gGc|||1||HGNC|7329| |
| 2 | 89160083 | T | G | | G|missense_variant|MODERATE|IGKJ5|ENSG00000211593|Transcript|ENST00000390238|IG_J_gene|1/1||ENST00000390238.2:c.35A>C|ENSP00000420166.1:p.Lys13Gln|35|37|13|K/Q|Aaa/Caa|||-1|cds_start_NF&cds_end_NF|HGNC|5723| |
| 2 | 89160402 | G | C | | C|missense_variant|MODERATE|IGKJ4|ENSG00000211594|Transcript|ENST00000390239|IG_J_gene|1/1||ENST00000390239.2:c.33C>G|ENSP00000417097.1:p.Ile11Met|33|33|11|I/M|atC/atG|||-1|cds_start_NF&cds_end_NF|HGNC|5722| |
| 2 | 89160428 | A | C | | C|missense_variant|MODERATE|IGKJ4|ENSG00000211594|Transcript|ENST00000390239|IG_J_gene|1/1||ENST00000390239.2:c.7T>G|ENSP00000417097.1:p.Phe3Val|7|7|3|F/V|Ttc/Gtc|||-1|cds_start_NF&cds_end_NF|HGNC|5722| |
| 2 | 89160747 | T | C | | C|missense_variant|MODERATE|IGKJ3|ENSG00000211595|Transcript|ENST00000390240|IG_J_gene|1/1||ENST00000390240.2:c.24A>G|ENSP00000419518.1:p.Lys9Arg|24|26|9|K/R|aAa/aGa|||-1|cds_start_NF&cds_end_NF|HGNC|5721| |
| 2 | 89165129 | A | G | | G|splice_donor_variant&non_coding_transcript_variant|HIGH|AC096579.7|ENSG00000231486|Transcript|ENST00000430694|processed_transcript||1/2|ENST00000430694.1:n.523+2T>C|||||||||-1||Clone_based_vega_gene|| |
| 2 | 179498688 | T | G | | G|missense_variant|MODERATE|TTN|ENSG00000155657|Transcript|ENST00000589042|protein_coding|231/363||ENST00000589042.1:c.42538A>C|ENSP00000467141.1:p.Lys14180Gln|42763|42538|14180|K/Q|Aaa/Caa|||-1||HGNC|12403| |
| 2 | 234728566 | G | A | | A|missense_variant|MODERATE|MROH2A|ENSG00000185038|Transcript|ENST00000389758|protein_coding|31/42||ENST00000389758.3:c.3376G>A|ENSP00000374408.3:p.Ala1126Thr|3542|3376|1126|A/T|Gcc/Acc|||1||HGNC|27936| |
| 3 | 10219627 | G | A | | A|missense_variant|MODERATE|IRAK2|ENSG00000134070|Transcript|ENST00000256458|protein_coding|2/13||ENST00000256458.4:c.200G>A|ENSP00000256458.4:p.Arg67Gln|290|200|67|R/Q|cGg/cAg|||1||HGNC|6113| |
| 3 | 16260956 | T | A | | A|missense_variant|MODERATE|GALNT15|ENSG00000131386|Transcript|ENST00000339732|protein_coding|7/10||ENST00000339732.5:c.1439T>A|ENSP00000344260.5:p.Leu480Gln|1942|1439|480|L/Q|cTg/cAg|||1||HGNC|21531| |
| 3 | 38182641 | T | C | | C|missense_variant|MODERATE|MYD88|ENSG00000172936|Transcript|ENST00000417037|protein_coding|5/5||ENST00000417037.2:c.818T>C|ENSP00000401399.2:p.Leu273Pro|1002|818|273|L/P|cTg/cCg|||1||HGNC|7562| |
| 3 | 81698044 | A | C | | C|missense_variant|MODERATE|GBE1|ENSG00000114480|Transcript|ENST00000429644|protein_coding|5/16||ENST00000429644.2:c.654T>G|ENSP00000410833.2:p.His218Gln|1298|654|218|H/Q|caT/caG|||-1||HGNC|4180| |
| 6 | 33177465 | G | A | | A|missense_variant|MODERATE|RING1|ENSG00000204227|Transcript|ENST00000374656|protein_coding|3/7||ENST00000374656.4:c.141G>A|ENSP00000363787.4:p.Met47Ile|349|141|47|M/I|atG/atA|||1||HGNC|10018| |
| 6 | 85472343 | G | A | | A|missense_variant|MODERATE|TBX18|ENSG00000112837|Transcript|ENST00000369663|protein_coding|2/8||ENST00000369663.5:c.416C>T|ENSP00000358677.4:p.Pro139Leu|754|416|139|P/L|cCg/cTg|||-1||HGNC|11595| |
| 7 | 127669942 | T | C | | C|missense_variant|MODERATE|LRRC4|ENSG00000128594|Transcript|ENST00000249363|protein_coding|2/2||ENST00000249363.3:c.752A>G|ENSP00000249363.3:p.Asn251Ser|1010|752|251|N/S|aAc/aGc|||-1||HGNC|15586| |
| 9 | 16436542 | C | A | | A|missense_variant|MODERATE|BNC2|ENSG00000173068|Transcript|ENST00000380672|protein_coding|6/7||ENST00000380672.4:c.1650G>T|ENSP00000370047.3:p.Leu550Phe|1708|1650|550|L/F|ttG/ttT|||-1||HGNC|30988| |
| 9 | 116854212 | G | A | | A|stop_gained|HIGH|KIF12|ENSG00000136883|Transcript|ENST00000374118|protein_coding|16/16||ENST00000374118.3:c.1471C>T|ENSP00000363232.3:p.Arg491Ter|1709|1471|491|R/*|Cga/Tga|||-1||HGNC|21495| |
| 10 | 17085897 | T | C | | C|missense_variant|MODERATE|CUBN|ENSG00000107611|Transcript|ENST00000377833|protein_coding|26/67||ENST00000377833.4:c.3758A>G|ENSP00000367064.4:p.Asp1253Gly|3824|3758|1253|D/G|gAc/gGc|||-1||HGNC|2548| |
| 10 | 49409354 | C | T | | T|missense_variant|MODERATE|FRMPD2|ENSG00000170324|Transcript|ENST00000374201|protein_coding|15/29||ENST00000374201.3:c.1871G>A|ENSP00000363317.3:p.Ser624Asn|2174|1871|624|S/N|aGt/aAt|||-1||HGNC|28572| |
| 10 | 114044481 | G | C | | C|missense_variant&splice_region_variant|MODERATE|TECTB|ENSG00000119913|Transcript|ENST00000369422|protein_coding|2/10||ENST00000369422.3:c.265G>C|ENSP00000358430.3:p.Glu89Gln|265|265|89|E/Q|Gag/Cag|||1||HGNC|11721| |
| 11 | 100064238 | T | G | | G|missense_variant|MODERATE|CNTN5|ENSG00000149972|Transcript|ENST00000524871|protein_coding|15/25||ENST00000524871.1:c.1727T>G|ENSP00000435637.1:p.Leu576Arg|2017|1727|576|L/R|cTt/cGt|||1||HGNC|2175| |
| 11 | 102647343 | C | A | | A|stop_gained&splice_region_variant|HIGH|MMP10|ENSG00000166670|Transcript|ENST00000279441|protein_coding|5/10||ENST00000279441.4:c.787G>T|ENSP00000279441.4:p.Gly263Ter|824|787|263|G/*|Gga/Tga|||-1||HGNC|7156| |
| 11 | 108160501 | A | G | | G|missense_variant|MODERATE|ATM|ENSG00000149311|Transcript|ENST00000278616|protein_coding|29/63||ENST00000278616.4:c.4409A>G|ENSP00000278616.4:p.Tyr1470Cys|4794|4409|1470|Y/C|tAt/tGt|||1||HGNC|795| |
| 12 | 11803095 | G | A | | A|splice_donor_variant|HIGH|ETV6|ENSG00000139083|Transcript|ENST00000396373|protein_coding||1/7|ENST00000396373.4:c.33+1G>A|||||||||1||HGNC|3495| |
| 12 | 14923724 | A | C | | C|missense_variant|MODERATE|HIST4H4|ENSG00000197837|Transcript|ENST00000539745|protein_coding|1/1||ENST00000539745.1:c.295T>G|ENSP00000443017.1:p.Tyr99Asp|342|295|99|Y/D|Tat/Gat|||-1||HGNC|20510| |
| 12 | 96640851 | C | T | | T|missense_variant|MODERATE|ELK3|ENSG00000111145|Transcript|ENST00000228741|protein_coding|3/5||ENST00000228741.3:c.341C>T|ENSP00000228741.3:p.Ala114Val|667|341|114|A/V|gCg/gTg|||1||HGNC|3325| |
| 12 | 110777394 | G | T | | T|missense_variant|MODERATE|ATP2A2|ENSG00000174437|Transcript|ENST00000539276|protein_coding|13/20||ENST00000539276.2:c.1629G>T|ENSP00000440045.2:p.Lys543Asn|1738|1629|543|K/N|aaG/aaT|||1||HGNC|812| |
| 14 | 106330461 | A | T | | T|missense_variant|MODERATE|IGHJ4|ENSG00000240041|Transcript|ENST00000461719|IG_J_gene|1/1||ENST00000461719.1:c.10T>A|ENSP00000419074.1:p.Tyr4Asn|10|10|4|Y/N|Tac/Aac|||-1|cds_start_NF&cds_end_NF|HGNC|5538| |
| 14 | 106573646 | G | C | | C|missense_variant|MODERATE|IGHV3-11|ENSG00000211941|Transcript|ENST00000390601|IG_V_gene|1/2||ENST00000390601.2:c.35C>G|ENSP00000375010.2:p.Ala12Gly|155|35|12|A/G|gCt/gGt|||-1|cds_end_NF|HGNC|5580| |
| 15 | 48758053 | C | T | | T|missense_variant&splice_region_variant|MODERATE|FBN1|ENSG00000166147|Transcript|ENST00000316623|protein_coding|39/66||ENST00000316623.5:c.4750G>A|ENSP00000325527.5:p.Glu1584Lys|5206|4750|1584|E/K|Gag/Aag|||-1||HGNC|3603| |
| 16 | 22826353 | G | A | | A|missense_variant|MODERATE|HS3ST2|ENSG00000122254|Transcript|ENST00000261374|protein_coding|1/2||ENST00000261374.3:c.422G>A|ENSP00000261374.3:p.Arg141Gln|856|422|141|R/Q|cGg/cAg|||1||HGNC|5195| |
| 17 | 42333075 | C | T | | T|missense_variant|MODERATE|SLC4A1|ENSG00000004939|Transcript|ENST00000262418|protein_coding|14/20||ENST00000262418.6:c.1766G>A|ENSP00000262418.6:p.Arg589His|1922|1766|589|R/H|cGc/cAc|||-1||HGNC|11027| |
| 17 | 62006798 | T | C | | C|missense_variant|MODERATE|CD79B|ENSG00000007312|Transcript|ENST00000392795|protein_coding|5/6||ENST00000392795.3:c.590A>G|ENSP00000376544.3:p.Tyr197Cys|665|590|197|Y/C|tAc/tGc|||-1||HGNC|1699| |
| 18 | 60052212 | G | A | | A|missense_variant|MODERATE|TNFRSF11A|ENSG00000141655|Transcript|ENST00000586569|protein_coding|10/10||ENST00000586569.1:c.1796G>A|ENSP00000465500.1:p.Arg599Gln|1834|1796|599|R/Q|cGg/cAg|||1||HGNC|11908| |
| 19 | 46509872 | G | A | | A|missense_variant|MODERATE|CCDC61|ENSG00000104983|Transcript|ENST00000595358|protein_coding|4/14||ENST00000595358.1:c.287G>A|ENSP00000471454.1:p.Arg96Gln|336|287|96|R/Q|cGg/cAg|||1||HGNC|33629| |
| 19 | 49424526 | A | G | | G|missense_variant|MODERATE|NUCB1|ENSG00000104805|Transcript|ENST00000405315|protein_coding|11/13||ENST00000405315.4:c.1118A>G|ENSP00000385923.3:p.Glu373Gly|1452|1118|373|E/G|gAg/gGg|||1||HGNC|8043| |
| 20 | 62571996 | C | A | | A|missense_variant|MODERATE|UCKL1|ENSG00000198276|Transcript|ENST00000354216|protein_coding|12/15||ENST00000354216.6:c.1253G>T|ENSP00000346155.6:p.Arg418Leu|1296|1253|418|R/L|cGc/cTc|||-1||HGNC|15938| |
| 22 | 22749634 | A | G | | G|missense_variant|MODERATE|IGLV7-43|ENSG00000211652|Transcript|ENST00000390298|IG_V_gene|2/2||ENST00000390298.2:c.158A>G|ENSP00000374833.2:p.Tyr53Cys|192|158|53|Y/C|tAt/tGt|||1|cds_end_NF|HGNC|5929| |
| 22 | 22749636 | C | T | | T|missense_variant|MODERATE|IGLV7-43|ENSG00000211652|Transcript|ENST00000390298|IG_V_gene|2/2||ENST00000390298.2:c.160C>T|ENSP00000374833.2:p.Pro54Ser|194|160|54|P/S|Cca/Tca|||1|cds_end_NF|HGNC|5929| |
| 22 | 23040751 | C | T | | T|missense_variant|MODERATE|IGLV2-23|ENSG00000211660|Transcript|ENST00000390306|IG_V_gene|2/2||ENST00000390306.2:c.199C>T|ENSP00000374841.2:p.Leu67Phe|361|199|67|L/F|Ctc/Ttc|||1|cds_end_NF|HGNC|5890| |
| 22 | 23223389 | G | A | | A|stop_gained|HIGH|IGLV3-1|ENSG00000211673|Transcript|ENST00000390319|IG_V_gene|2/2||ENST00000390319.2:c.159G>A|ENSP00000374854.2:p.Trp53Ter|211|159|53|W/*|tgG/tgA|||1|cds_end_NF|HGNC|5896| |
| 22 | 23223438 | A | C | | C|missense_variant|MODERATE|IGLV3-1|ENSG00000211673|Transcript|ENST00000390319|IG_V_gene|2/2||ENST00000390319.2:c.208A>C|ENSP00000374854.2:p.Ser70Arg|260|208|70|S/R|Agc/Cgc|||1|cds_end_NF|HGNC|5896| |
| 22 | 23223439 | G | C | | C|missense_variant|MODERATE|IGLV3-1|ENSG00000211673|Transcript|ENST00000390319|IG_V_gene|2/2||ENST00000390319.2:c.209G>C|ENSP00000374854.2:p.Ser70Thr|261|209|70|S/T|aGc/aCc|||1|cds_end_NF|HGNC|5896| |
| 22 | 23230265 | A | G | | G|missense_variant|MODERATE|IGLL5|ENSG00000254709|Transcript|ENST00000526893|protein_coding|1/3||ENST00000526893.1:c.32A>G|ENSP00000431254.1:p.Glu11Gly|306|32|11|E/G|gAg/gGg|||1||HGNC|38476| |
| 22 | 42475774 | T | C | | C|start_lost|HIGH|SMDT1|ENSG00000183172|Transcript|ENST00000331479|protein_coding|1/3||ENST00000331479.3:c.2T>C|ENSP00000327467.3:p.Met1?|76|2|1|M/T|aTg/aCg|||1||HGNC|25055| |
| X | 44820534 | TCGCTG | T | | -|frameshift_variant|HIGH|KDM6A|ENSG00000147050|Transcript|ENST00000377967|protein_coding|3/29||ENST00000377967.4:c.233_237delGCTGC|ENSP00000367203.4:p.Arg78LeufsTer2|273-277|232-236|78-79|RC/X|CGCTGc/c|||1||HGNC|12637|1 |
| X | 44820534 | TCGCTGCT | TAA | | AA|frameshift_variant|HIGH|KDM6A|ENSG00000147050|Transcript|ENST00000377967|protein_coding|3/29||ENST00000377967.4:c.232_238delCGCTGCTinsAA|ENSP00000367203.4:p.Arg78LysfsTer2|273-279|232-238|78-80|RCY/KX|CGCTGCTat/AAat|||1||HGNC|12637| |
| X | 123197875 | C | T | | T|missense_variant|MODERATE|STAG2|ENSG00000101972|Transcript|ENST00000218089|protein_coding|20/35||ENST00000218089.9:c.1999C>T|ENSP00000218089.9:p.Arg667Trp|2509|1999|667|R/W|Cgg/Tgg|||1||HGNC|11355| |