PMID: 18518984

Genome-wide survey of allele-specific splicing in humans.

BMC genomics
V Nembaware, B Lupindo, K Schouest, C Spillane, K Scheffler, C Seoighe
2008-06-02

808 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-94882509-C-T MCTP2 c.638-10C>T - IntronicSNV - 3/21
12-133357412-T-C GOLGA3 c.3554A>G p.Lys1185Arg Missense 18/24 -
19-55142930-C-T LILRB1 c.71-21C>T - IntronicSNV - 3/14
17-60040329-C-T MED13 c.4848G>A p.Thr1616Thr Synonymous 21/30 -
2-10933249-C-T PDIA6 c.426G>A p.Arg142Arg Synonymous 5/13 -
10-50824619-G-A CHAT c.358G>A p.Ala120Thr Missense 2/15 -
12-55344133-C-G TESPA1 c.*43G>C - 3_prime_UTR_variant 11/11 -
12-55344133-C-A TESPA1 c.*43G>T - 3_prime_UTR_variant 11/11 -
14-23374435-G-A RBM23 c.594C>T p.Ile198Ile Synonymous 8/14 -
11-233067-C-T SIRT3 c.196G>A p.Val66Ile Missense 3/7 -
2-3628383-C-G RPS7 c.508-12C>G - IntronicSNV - 6/6
2-3628383-C-A RPS7 c.508-12C>A - IntronicSNV - 6/6
14-74759477-C-T ABCD4 c.910G>A p.Ala304Thr Missense 9/19 -
16-23379279-C-T SCNN1B c.879C>T p.Phe293Phe Synonymous 5/13 -
1-100203648-C-T FRRS1 c.753G>A p.Gln251Gln Synonymous 7/17 -
5-180235503-T-C MGAT1 c.-127+145A>G - intron_variant - 2/2
22-42190309-A-G MEI1 c.3428-66A>G - IntronicSNV - 27/30
12-113357442-G-A OAS1 c.1189G>A p.Gly397Arg Missense 6/6 -
13-76427410-C-G LMO7 c.3701C>G p.Pro1234Arg Missense 27/30 -
1-46521559-A-T PIK3R3 c.849T>A p.Asn283Lys Missense 7/10 -
20-18513372-C-T SEC23B c.1298C>T p.Pro433Leu Missense 11/20 -
20-18513372-C-A SEC23B c.1298C>A p.Pro433Gln Missense 11/20 -
7-139727135-G-A PARP12 c.1569C>T p.Phe523Phe Synonymous 10/12 -
8-17819572-C-T PCM1 c.2352C>T p.Pro784Pro Synonymous 16/39 -
2-17884495-C-T SMC6 c.2071G>A p.Ala691Thr Missense 18/27 -
14-20823018-A-C PARP2 c.814A>C p.Ile272Leu Missense 9/16 -
14-20823018-A-G PARP2 c.814A>G p.Ile272Val Missense 9/16 -
16-23379279-C-G SCNN1B c.879C>G p.Phe293Leu Missense 5/13 -
6-131190838-G-C EPB41L2 c.1834-5980C>G - IntronicSNV - 12/14
6-131190838-G-A EPB41L2 c.1834-5980C>T - IntronicSNV - 12/14
8-70571531-G-A SULF1 c.*761G>A - 3-UTRSNV 23/23 -
8-70571531-G-T SULF1 c.*761G>T - 3-UTRSNV 23/23 -
1-76255613-A-G RABGGTB c.310-24A>G - IntronicSNV - 3/8
11-118962816-C-T HMBS c.613-19C>T - IntronicSNV - 9/13
1-3753136-A-T CEP104 c.1240T>A p.Leu414Ile Missense 10/22 -
19-10668673-A-C KRI1 c.1334T>G - missense_variant 14/19 -
3-47045739-C-A NBEAL2 c.6054C>A p.Pro2018Pro Synonymous 37/54 -
3-47045739-C-G NBEAL2 c.6054C>G p.Pro2018Pro Synonymous 37/54 -
14-51192659-G-A NIN c.6204C>T p.Pro2068Pro Synonymous 30/30 -
2-99813614-T-C MRPL30 c.*1446T>C - 3-UTRSNV 6/6 -
17-56585872-G-C MTMR4 c.508C>G p.Leu170Val Missense 7/19 -
17-56585872-G-T MTMR4 c.508C>A p.Leu170Met Missense 7/19 -
14-60591887-G-T PCNX4 c.2296G>T p.Gly766Cys Missense 8/10 -
14-60591887-G-A PCNX4 c.2296G>A p.Gly766Ser Missense 8/10 -
1-100358103-C-G AGL c.3199C>G p.Pro1067Ala Missense 24/34 -
1-236706780-C-A LGALS8 c.676-80C>A - IntronicSNV - 9/11
1-236706780-C-T LGALS8 c.676-80C>T - IntronicSNV - 9/11
17-46929908-T-C CALCOCO2 c.743T>C p.Val248Ala Missense 8/13 -
5-96139250-C-T ERAP1 c.380G>A p.Arg127His Missense 2/20 -
19-14581063-A-G PKN1 c.2382A>G p.Arg794Arg Synonymous 19/22 -
13-114154419-G-A TMCO3 c.771G>A p.Lys257Lys Synonymous 4/13 -
22-50658570-A-G TUBGCP6 c.4108+110T>C - IntronicSNV - 16/24
6-32782387-G-A HLA-DOB c.362-9C>T - IntronicSNV - 2/5
22-50658570-A-T TUBGCP6 c.4108+110T>A - IntronicSNV - 16/24
12-53662624-C-A ESPL1 c.74C>A p.Ala25Asp Missense 2/31 -
8-103282418-G-T UBR5 c.7086-7C>A - IntronicSNV - 49/58
22-36900806-A-G FOXRED2 c.535T>C p.Phe179Leu Missense 3/9 -
15-74709975-G-A SEMA7A c.507C>T p.Tyr169Tyr Synonymous 5/14 -
2-216809084-C-T MREG c.*502G>A - 3-UTRSNV 5/5 -
2-55490819-G-T MTIF2 c.176C>A p.Thr59Asn Missense 4/16 -
14-67769177-A-G MPP5 c.852A>G p.Val284Val Synonymous 7/15 -
6-143806276-A-G PEX3 c.942-13A>G - IntronicSNV - 10/11
6-143806276-A-T PEX3 c.942-13A>T - IntronicSNV - 10/11
8-17814915-A-C PCM1 c.1789A>C p.Met597Leu Missense 12/39 -
4-39116911-T-A KLHL5 c.2034T>A p.Thr678Thr Synonymous 11/12 -
11-44095050-C-G ACCS c.402C>G p.Asp134Glu Missense 4/15 -
8-17814915-A-T PCM1 c.1789A>T p.Met597Leu Missense 12/39 -
17-48549791-C-T ACSF2 c.1326C>T p.Ala442Ala Synonymous 12/16 -
17-48549791-C-G ACSF2 c.1326C>G p.Ala442Ala Synonymous 12/16 -
8-17814915-A-G PCM1 c.1789A>G p.Met597Val Missense 12/39 -
1-26610891-A-T UBXN11 c.836T>A p.Leu279Gln Missense 11/15 -
1-26610891-A-C UBXN11 c.836T>G p.Leu279Arg Missense 11/15 -
17-65955651-T-C BPTF c.7876-6T>C - IntronicSNV - 25/29
15-78565414-A-G DNAJA4 c.401-23A>G - IntronicSNV - 3/7
11-96121855-C-A CCDC82 c.-138-1078G>T - intron_variant - 1/9
7-128409225-A-G CALU c.*4A>G - 3-UTRSNV 7/7 -
6-36936697-T-C MTCH1 c.1101A>G p.Ser367Ser Synonymous 12/12 -
5-96232402-T-A ERAP2 c.1372-34T>A - IntronicSNV - 8/18
5-96232402-T-C ERAP2 c.1372-34T>C - IntronicSNV - 8/18
9-35094373-G-C PIGO c.512-17C>G - IntronicSNV - 2/10
11-67793509-C-T ALDH3B1 c.1143C>T - synonymous_variant 11/13 -
9-35094373-G-A PIGO c.512-17C>T - IntronicSNV - 2/10
16-3613126-C-T NLRC3 c.1812G>A p.Leu604Leu Synonymous 5/21 -
11-118890085-C-T TRAPPC4 c.350+58C>T - IntronicSNV - 2/4
5-68616331-C-T CCDC125 c.37G>A p.Val13Met Missense 2/12 -
10-72181460-G-T EIF4EBP2 c.332-12G>T - IntronicSNV - 2/2
1-153636860-A-G ILF2 c.656+12T>C - IntronicSNV - 9/13
5-7885907-C-G MTRR c.997C>G p.Leu333Val Missense 7/15 -
22-50944163-G-A LMF2 c.856C>T p.Leu286Leu Synonymous 6/14 -
20-397928-C-T RBCK1 c.168-242C>T - IntronicSNV - 2/11
5-7885907-C-T MTRR c.997C>T p.Leu333Phe Missense 7/15 -
6-42931261-C-T GNMT c.717-12C>T - IntronicSNV - 5/5
6-42931261-C-G GNMT c.717-12C>G - IntronicSNV - 5/5
4-1090625-G-A RNF212 c.174C>T p.Thr58Thr Synonymous 3/10 -
11-44104981-C-T ACCS c.1262C>T p.Pro421Leu Missense 14/15 -
12-122694418-A-G DIABLO c.524-1294T>C - IntronicSNV - 6/6
1-20124716-C-T TMCO4 c.-179-8G>A - splice_region_variant,intron_variant - 1/15
1-32667609-C-T CCDC28B c.73C>T p.Arg25Trp Missense 2/6 -
5-132099999-A-G SEPT8 c.264T>C p.Tyr88Tyr Synonymous 3/10 -
2-27355991-G-T PREB c.540C>A p.Val180Val Synonymous 3/9 -
14-20916249-T-A OSGEP c.702+16A>T - IntronicSNV - 7/10
12-133212582-G-A POLE c.5707C>T p.Leu1903Leu Synonymous 42/49 -
1-53527842-G-A PODN c.1-50G>A - 5-UTRSNV 2/11 -
2-27355991-G-C PREB c.540C>G p.Val180Val Synonymous 3/9 -
15-89860786-A-C POLG c.3483-19T>G - IntronicSNV - 21/22
1-111682118-C-T DRAM2 c.-79+542G>A - intron_variant - 1/8
19-2110746-G-A AP3D1 c.3135C>T p.Ser1045Ser Synonymous 27/32 -
16-30518041-G-C ITGAL c.2120G>C p.Arg707Thr Missense 19/29 -
17-40725379-A-T PSMC3IP c.451T>A p.Tyr151Asn Missense 6/8 -
17-73489567-C-A TMEM94 c.2087-5C>A - IntronicSNV - 16/31
17-73489567-C-G TMEM94 c.2087-5C>G - IntronicSNV - 16/31
12-48527186-C-T PFKM c.516C>T p.Thr172Thr Synonymous 6/23 -
8-145067467-G-T GRINA c.*458G>T - 3-UTRSNV 7/7 -
7-2801803-C-T GNA12 c.526-28668G>A - IntronicSNV - 2/3
6-32948333-C-T BRD2 c.2270-26C>T - IntronicSNV - 12/12
9-94985637-T-C IARS c.3544A>G p.Lys1182Glu Missense 32/34 -
8-145067467-G-A GRINA c.*458G>A - 3-UTRSNV 7/7 -
20-44526979-C-T CTSA c.1414-27C>T - IntronicSNV - 14/14
4-56756531-T-C EXOC1 c.1518T>C p.Ala506Ala Synonymous 12/19 -
15-56152872-C-G NEDD4 c.1820G>C p.Arg607Pro Missense 3/22 -
15-56152872-C-A NEDD4 c.1820G>T p.Arg607Leu Missense 3/22 -
15-56152872-C-T NEDD4 c.1820G>A p.Arg607Gln Missense 3/22 -
2-234394487-G-T USP40 c.3331C>A - missense_variant 28/31 -
2-234394487-G-A USP40 c.3331C>T - missense_variant 28/31 -
6-2836266-T-G SERPINB1 c.568-9A>C - IntronicSNV - 5/6
6-31748820-G-A VARS c.2625C>T p.Asp875Asp Synonymous 22/30 -
6-31748820-G-C VARS c.2625C>G p.Asp875Glu Missense 22/30 -
1-161145005-C-G B4GALT3 c.267G>C p.Ser89Ser Synonymous 4/8 -
1-161145005-C-A B4GALT3 c.267G>T p.Ser89Ser Synonymous 4/8 -
6-42906384-G-T CNPY3 c.692G>T p.Ser231Ile Missense 6/6 -
1-161145005-C-T B4GALT3 c.267G>A p.Ser89Ser Synonymous 4/8 -
16-81032065-T-C CMC2 c.1-1066A>G - IntronicSNV - 1/3
2-20096936-C-A TTC32 c.317-49G>T - IntronicSNV - 2/2
3-13367406-C-T NUP210 c.4533G>A p.Ser1511Ser Synonymous 33/40 -
19-40486136-G-C PSMC4 c.919-57G>C - IntronicSNV - 8/10
1-55538462-C-T USP24 c.7599G>A p.Lys2533Lys Synonymous 65/68 -
19-40486136-G-A PSMC4 c.919-57G>A - IntronicSNV - 8/10
4-185701549-G-T ACSL1 c.414C>A p.Ile138Ile Synonymous 5/21 -
17-8132763-T-C CTC1 c.3013A>G p.Ile1005Val Missense 19/23 -
19-1124053-A-T SBNO2 c.442-32T>A - IntronicSNV - 5/31
6-33169895-C-T SLC39A7 c.627C>T p.Ser209Ser Synonymous 3/7 -
2-96859034-A-T STARD7 c.606T>A p.Ile202Ile Synonymous 4/8 -
2-96859034-A-G STARD7 c.606T>C p.Ile202Ile Synonymous 4/8 -
9-99250463-C-T HABP4 c.1092C>T p.Leu364Leu Synonymous 7/8 -
1-160654786-G-A CD48 c.276C>T p.Gly92Gly Synonymous 2/4 -
4-185701549-G-A ACSL1 c.414C>T p.Ile138Ile Synonymous 5/21 -
6-33169895-C-A SLC39A7 c.627C>A p.Ser209Ser Synonymous 3/7 -
6-33169895-C-G SLC39A7 c.627C>G p.Ser209Ser Synonymous 3/7 -
8-27293865-C-T PTK2B c.1341C>T p.His447His Synonymous 16/32 -
17-71201675-T-A COG1 c.2383-17T>A - IntronicSNV - 9/13
5-150647040-C-T GM2A c.*28C>T - 3-UTRSNV 4/4 -
19-6419275-A-G KHSRP c.548-4T>C - IntronicSNV - 6/19
7-94174854-T-C CASD1 c.1477-3T>C - IntronicSNV - 11/17
2-219142860-C-A TMBIM1 c.474-163G>T - IntronicSNV - 6/11
12-1965369-G-A CACNA2D4 c.2035C>T p.Leu679Leu Synonymous 21/38 -
11-35229673-T-C CD44 c.1436T>C p.Ile479Thr Missense 12/18 -
11-111749349-A-G FDXACB1 c.260T>C p.Ile87Thr Missense 2/5 -
11-111749349-A-T FDXACB1 c.260T>A p.Ile87Asn Missense 2/5 -
7-45113170-G-A CCM2 c.915G>A p.Thr305Thr Synonymous 8/10 -
16-21987481-G-C UQCRC2 c.1048-7G>C - IntronicSNV - 11/13
10-104157727-C-T NFKB2 c.662-11C>T - IntronicSNV - 8/22
17-1554770-A-G PRPF8 c.6588T>C p.His2196His Synonymous 41/43 -
15-91543761-C-A VPS33B c.1540G>T p.Gly514Cys Missense 20/23 -
12-120636549-C-A RPLP0 c.466-7G>T - IntronicSNV - 5/7
11-118962816-C-A HMBS c.613-19C>A - IntronicSNV - 9/13
1-21795388-A-G NBPF3 c.341A>G p.Tyr114Cys Missense 3/15 -
6-36995222-G-A FGD2 c.1623G>A p.Thr541Thr Synonymous 15/16 -
5-96118866-C-G ERAP1 c.2174G>C p.Arg725Pro Missense 15/20 -
5-96118866-C-T ERAP1 c.2174G>A p.Arg725Gln Missense 15/20 -
3-138289221-C-T CEP70 c.404G>A p.Ser135Asn Missense 6/18 -
19-48954421-G-A GRWD1 c.956G>A p.Arg319Gln Missense 6/7 -
2-242051777-G-A PASK c.3411C>T p.Ala1137Ala Synonymous 15/18 -
9-79954545-T-C VPS13A c.6492T>C p.Asp2164Asp Synonymous 48/69 -
12-49723963-A-G TROAP c.1335A>G p.Glu445Glu Synonymous 13/15 -
11-64977783-C-T CAPN1 c.1943-24C>T - IntronicSNV - 19/21
19-50362111-G-A PTOV1 c.1041+201G>A - IntronicSNV - 10/12
1-100358103-C-T AGL c.3199C>T p.Pro1067Ser Missense 24/34 -
12-82783668-C-G METTL25 c.498C>G p.Ile166Met Missense 3/12 -
7-150500455-A-G TMEM176A c.286-33A>G - IntronicSNV - 3/6
15-90138670-C-T TICRR c.1728C>T p.Cys576Cys Synonymous 7/22 -
18-33718326-A-C ELP2 c.382A>C p.Thr128Pro Missense 4/22 -
11-35229673-T-G CD44 c.1436T>G p.Ile479Arg Missense 12/18 -
15-91543761-C-G VPS33B c.1540G>C p.Gly514Arg Missense 20/23 -
18-61620766-G-C HMSD c.72+5G>C - IntronicSNV - 2/3
15-91543761-C-T VPS33B c.1540G>A p.Gly514Ser Missense 20/23 -
18-61620766-G-A HMSD c.72+5G>A - IntronicSNV - 2/3
22-30730711-A-G SF3A1 c.2281-27T>C - IntronicSNV - 15/15
5-82648943-G-A XRCC4 c.894-7G>A - IntronicSNV - 7/7
6-36938432-G-A MTCH1 c.894C>T p.Phe298Phe Synonymous 9/12 -
3-53269046-T-C TKT c.582A>G p.Pro194Pro Synonymous 5/14 -
3-53269046-T-G TKT c.582A>C p.Pro194Pro Synonymous 5/14 -
18-61264298-G-A SERPINB13 c.877G>A p.Gly293Ser Missense 8/8 -
16-28998111-T-A LAT c.399-9T>A - IntronicSNV - 7/11
15-41829230-A-G RPAP1 c.94T>C p.Leu32Leu Synonymous 2/25 -
19-39068641-A-C RYR1 c.14256A>C p.Thr4752Thr Synonymous 98/106 -
21-33694257-A-T URB1 c.5341-3T>A - IntronicSNV - 33/38
6-33053307-C-T HLA-DPB1 c.647-249C>T - IntronicSNV - 3/5
15-49912830-T-C FAM227B c.-73+67A>G - intron_variant - 1/15
3-52432033-C-T DNAH1 c.11959-15C>T - IntronicSNV - 74/77
20-62597694-T-G ZNF512B c.834A>C p.Val278Val Synonymous 5/17 -
6-143823112-G-A FUCA2 c.1111C>T p.His371Tyr Missense 5/7 -
17-8161149-C-T PFAS c.1100C>T p.Pro367Leu Missense 10/28 -
17-76130575-A-T TMC8 c.917A>T p.Asn306Ile Missense 8/16 -
17-76130575-A-C TMC8 c.917A>C p.Asn306Thr Missense 8/16 -
16-1370614-C-G UBE2I c.413+96C>G - IntronicSNV - 6/6
16-23403510-G-A COG7 c.2146+191C>T - IntronicSNV - 16/16
11-17515970-G-A USH1C c.1647-47C>T - IntronicSNV - 20/20
19-17615609-T-C SLC27A1 c.*188T>C - 3-UTRSNV 12/12 -
17-40264125-A-G DHX58 c.-2+6T>C - splice_region_variant,intron_variant - 2/13
5-96245439-C-T ERAP2 c.2325C>T p.Ser775Ser Synonymous 15/19 -
17-40264125-A-T DHX58 c.-2+6T>A - splice_region_variant,intron_variant - 2/13
21-33694257-A-G URB1 c.5341-3T>C - IntronicSNV - 33/38
6-30166266-C-T TRIM26 c.474G>A p.Arg158Arg Synonymous 5/10 -
13-39586343-G-C PROSER1 c.2589C>G p.Gly863Gly Synonymous 12/13 -
3-42787469-A-G CCDC13 c.771T>C p.Ser257Ser Synonymous 7/16 -
14-20819227-G-A PARP2 c.443G>A p.Ser148Asn Missense 6/16 -
1-100203693-G-T FRRS1 c.708C>A p.Ser236Arg Missense 7/17 -
9-139110654-C-T QSOX2 c.957G>A p.Lys319Lys Synonymous 8/12 -
9-137734232-C-T COL5A1 c.*83C>T - 3-UTRSNV 66/66 -
20-44751363-C-T CD40 c.371C>T p.Ser124Leu Missense 4/9 -
19-889821-G-A MED16 c.278-14C>T - IntronicSNV - 3/15
1-236717926-T-C HEATR1 c.6050A>G p.Glu2017Gly Missense 42/45 -
17-73230856-C-T NUP85 c.1740C>T p.Asp580Asp Synonymous 17/19 -
1-183602308-G-T ARPC5 c.144-19C>A - IntronicSNV - 1/3
20-33867924-G-A EIF6 c.370-3C>T - IntronicSNV - 4/6
11-126310082-A-T KIRREL3 c.1353+262T>A - IntronicSNV - 11/16
11-47487740-G-A CELF1 c.*2743C>T - 3_prime_UTR_variant 14/14 -
1-100203693-G-A FRRS1 c.708C>T p.Ser236Ser Synonymous 7/17 -
6-43468355-G-A TJAP1 c.100-127G>A - IntronicSNV - 4/9
1-53754104-G-C LRP8 c.367+1135C>G - IntronicSNV - 3/18
1-53754104-G-T LRP8 c.367+1135C>A - IntronicSNV - 3/18
1-206603535-G-A SRGAP2 c.2062G>A - missense_variant 11/20 -
6-28268497-C-T PGBD1 c.870-4C>T - IntronicSNV - 6/6
16-55361493-C-A IRX6 c.414-5C>A - IntronicSNV - 3/5
16-55361493-C-T IRX6 c.414-5C>T - IntronicSNV - 3/5
17-61906846-T-C PSMC5 c.97-8T>C - IntronicSNV - 2/11
14-20916987-G-A OSGEP c.558-17C>T - IntronicSNV - 5/10
4-187122304-C-T CYP4V2 c.802-7C>T - IntronicSNV - 6/10
10-134623959-T-C CFAP46 c.7618A>G p.Ser2540Gly Missense 57/58 -
10-134623959-T-A CFAP46 c.7618A>T p.Ser2540Cys Missense 57/58 -
22-44364594-C-T SAMM50 c.235-17C>T - IntronicSNV - 3/14
12-6711147-C-A CHD4 c.417G>T p.Glu139Asp Missense 4/40 -
5-122718736-G-C CEP120 c.1804C>G p.Leu602Val Missense 13/21 -
6-24781735-C-T GMNN c.160C>T p.Arg54Trp Missense 4/7 -
5-61847073-G-C IPO11 c.2370G>C p.Thr790Thr Synonymous 26/30 -
5-61847073-G-A IPO11 c.2370G>A p.Thr790Thr Synonymous 26/30 -
2-234203740-A-G ATG16L1 c.*744A>G - 3-UTRSNV 17/17 -
20-2945759-C-T PTPRA c.326C>T p.Pro109Leu Missense 9/28 -
5-169028481-T-C SPDL1 c.1522T>C p.Tyr508His Missense 11/12 -
6-160468278-A-G IGF2R c.2139A>G p.Thr713Thr Synonymous 16/48 -
1-26612460-G-A UBXN11 c.529C>T p.Leu177Leu Synonymous 9/15 -
22-41726053-G-A ZC3H7B c.471G>A p.Gln157Gln Synonymous 6/23 -
4-95506827-G-A PDLIM5 c.495G>A p.Arg165Arg Synonymous 6/13 -
7-137600690-C-T CREB3L2 c.388G>A p.Val130Ile Missense 3/12 -
5-96122260-T-G ERAP1 c.1680-7A>C - IntronicSNV - 11/19
18-11886563-C-G MPPE1 c.802G>C p.Ala268Pro Missense 9/11 -
12-6711147-C-G CHD4 c.417G>C p.Glu139Asp Missense 4/40 -
6-89926966-T-C GABRR1 c.76A>G p.Met26Val Missense 1/9 -
17-67101718-C-G ABCA6 c.2625G>C p.Met875Ile Missense 20/39 -
6-24781719-G-C GMNN c.144G>C p.Leu48Phe Missense 4/7 -
13-50134150-A-G RCBTB1 c.348T>C p.Ile116Ile Synonymous 5/13 -
10-12149939-C-T DHTKD1 c.2079C>T p.Ile693Ile Synonymous 12/17 -
1-179876988-C-T TOR1AIP1 c.827C>T p.Pro276Leu Missense 7/10 -
19-12813683-T-G TNPO2 c.2259A>C p.Glu753Asp Missense 20/25 -
16-87741662-C-T KLHDC4 c.*21G>A - 3_prime_UTR_variant 12/12 -
6-32781554-G-T HLA-DOB c.700C>A p.Leu234Ile Missense 4/6 -
15-82444663-T-C EFL1 c.2132A>G p.Lys711Arg Missense 18/20 -
17-73489567-C-T TMEM94 c.2087-5C>T - IntronicSNV - 16/31
1-16042766-T-A PLEKHM2 c.95T>A p.Ile32Asn Missense 2/20 -
1-16042766-T-C PLEKHM2 c.95T>C p.Ile32Thr Missense 2/20 -
1-179876988-C-A TOR1AIP1 c.827C>A p.Pro276His Missense 7/10 -
1-179876988-C-G TOR1AIP1 c.827C>G p.Pro276Arg Missense 7/10 -
8-8890041-A-G ERI1 c.*2497A>G - 3-UTRSNV 7/7 -
20-3204231-G-A ITPA c.*123G>A - 3-UTRSNV 8/8 -
11-63991801-T-C TRPT1 c.368A>G p.His123Arg Missense 5/7 -
1-79094081-T-A IFI44L c.478+3T>A - IntronicSNV - 2/8
5-112889374-G-C YTHDC2 c.1955G>C p.Ser652Thr Missense 14/30 -
2-231084295-A-G SP110 c.-2+294T>C - intron_variant - 1/18
10-102750783-C-T TWNK c.1734+16C>T - IntronicSNV - 4/4
18-11886563-C-T MPPE1 c.802G>A p.Ala268Thr Missense 9/11 -
15-52446200-G-A GNB5 c.186C>T p.His62His Synonymous 2/11 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
14-81952649-G-A SEL1L c.1782C>T p.Ala594Ala Synonymous 17/21 -
10-102750783-C-A TWNK c.1734+16C>A - IntronicSNV - 4/4
19-10668673-A-G KRI1 c.1334T>C - missense_variant 14/19 -
1-111861714-T-A CHIA c.433-28T>A - IntronicSNV - 7/9
2-242082480-A-C PASK c.1-33T>G - 5-UTRSNV 2/18 -
12-54911426-C-G NCKAP1L c.1205C>G p.Ser402Trp Missense 12/31 -
12-54911426-C-T NCKAP1L c.1205C>T p.Ser402Leu Missense 12/31 -
6-31125158-C-T CCHCR1 c.1-343G>A - IntronicSNV - 1/17
10-50122181-C-A LRRC18 c.20G>T p.Gly7Val Missense 1/2 -
14-23945366-A-G NGDN c.544+5A>G - IntronicSNV - 7/10
2-202006096-G-A CFLAR c.606+934G>A - IntronicSNV - 5/9
11-233067-C-A SIRT3 c.196G>T p.Val66Phe Missense 3/7 -
8-27308585-A-C PTK2B c.2513A>C p.Lys838Thr Missense 27/32 -
15-42850380-A-G HAUS2 c.94-16A>G - IntronicSNV - 1/5
18-674440-A-C ENOSF1 c.1231-34T>G - IntronicSNV - 15/15
14-20917442-A-T OSGEP c.412-17T>A - IntronicSNV - 3/10
17-20908325-T-C USP22 c.1323-22A>G - IntronicSNV - 10/12
8-143784500-T-G LY6K c.218-9T>G - IntronicSNV - 2/2
2-10059770-G-T TAF1B c.1386G>T p.Glu462Asp Missense 14/15 -
9-95782667-C-T FGD3 c.1455C>T p.Phe485Phe Synonymous 13/18 -
18-673016-C-T TYMS c.*19C>T - 3-UTRSNV 7/7 -
11-10828361-C-A EIF4G2 c.107+6G>T - IntronicSNV - 3/21
17-73844748-A-G WBP2 c.305-5T>C - IntronicSNV - 3/7
7-38241686-T-G STARD3NL c.1-5420T>G - IntronicSNV - 1/8
12-122215626-C-A TMEM120B c.*1998C>A - 3-UTRSNV 12/12 -
14-20823095-G-A PARP2 c.891G>A p.Pro297Pro Synonymous 9/16 -
22-31342376-G-T MORC2 c.192C>A p.Thr64Thr Synonymous 7/27 -
17-73015802-G-C MRPL58 c.231G>C p.Leu77Phe Missense 3/6 -
16-30495496-C-T ITGAL c.669C>T p.Pro223Pro Synonymous 7/29 -
20-57571763-A-G CTSZ c.732T>C p.Ser244Ser Synonymous 5/6 -
8-146016759-G-A RPL8 c.402C>T p.Ala134Ala Synonymous 4/6 -
8-145059425-T-C PARP10 c.745A>G p.Ile249Val Missense 5/11 -
14-57741563-G-C AP5M1 c.676G>C p.Gly226Arg Missense 2/8 -
14-20813289-G-A PARP2 c.202+43G>A - IntronicSNV - 2/15
9-134401335-C-A UCK1 c.633G>T p.Pro211Pro Synonymous 6/7 -
19-42703833-A-G DEDD2 c.738T>C p.Ser246Ser Synonymous 5/5 -
9-134401335-C-T UCK1 c.633G>A p.Pro211Pro Synonymous 6/7 -
3-14175262-T-C TMEM43 c.536T>C p.Met179Thr Missense 7/12 -
5-96245518-A-G ERAP2 c.2354+50A>G - IntronicSNV - 15/18
3-49751585-C-T RNF123 c.2988C>T p.Asp996Asp Synonymous 31/39 -
18-13116432-G-A CEP192 c.7346G>A p.Arg2449Gln Missense 43/45 -
11-10786142-C-T CTR9 c.1461C>T p.His487His Synonymous 12/25 -
18-32920649-G-A ZNF24 c.1-35C>T - 5-UTRSNV 2/4 -
7-156469096-C-T RNF32 c.853-17C>T - IntronicSNV - 8/8
18-13116432-G-T CEP192 c.7346G>T p.Arg2449Leu Missense 43/45 -
6-72011086-C-T OGFRL1 c.693-3C>T - IntronicSNV - 6/6
2-128044502-C-T ERCC3 c.1119G>A p.Gln373Gln Synonymous 8/15 -
15-74709975-G-T SEMA7A c.507C>A p.Tyr169* Nonsense 5/14 -
2-99185423-C-G INPP4A c.2416+292C>G - IntronicSNV - 23/25
2-99185423-C-A INPP4A c.2416+292C>A - IntronicSNV - 23/25
4-76720885-T-C USO1 c.1563T>C - splice_region_variant,synonymous_variant 14/24 -
5-174955584-C-T SFXN1 c.*1847C>T - 3-UTRSNV 11/11 -
18-47811374-G-A CXXC1 c.910C>T p.Leu304Leu Synonymous 7/15 -
10-50824117-G-A CHAT c.287-431G>A - IntronicSNV - 1/14
4-39116911-T-C KLHL5 c.2034T>C p.Thr678Thr Synonymous 11/12 -
16-68857289-T-C CDH1 c.1937-13T>C - IntronicSNV - 12/15
8-124359405-A-C ATAD2 c.2139T>G p.Val713Val Synonymous 16/28 -
1-76198785-G-A ACADM c.286+178G>A - IntronicSNV - 4/11
1-45973928-G-A MMACHC c.321G>A p.Val107Val Synonymous 3/4 -
18-10762962-G-C PIEZO2 c.3006C>G p.Leu1002Leu Synonymous 20/52 -
18-10762962-G-A PIEZO2 c.3006C>T p.Leu1002Leu Synonymous 20/52 -
12-22478425-A-G ST8SIA1 c.236+8506T>C - IntronicSNV - 1/4
6-37348920-C-T RNF8 c.1237-6C>T - IntronicSNV - 6/7
2-238990388-G-A SCLY c.523G>A - missense_variant 5/12 -
3-183211906-A-G KLHL6 c.1311T>C p.Asn437Asn Synonymous 5/7 -
9-139292751-C-T SNAPC4 c.130G>A p.Asp44Asn Missense 1/23 -
2-175287778-G-A SCRN3 c.917+3G>A - IntronicSNV - 6/7
15-56152729-T-C NEDD4 c.1877A>G p.Asn626Ser Missense 4/22 -
6-3264502-G-C PSMG4 c.250+509G>C - IntronicSNV - 2/2
4-39116911-T-G KLHL5 c.2034T>G p.Thr678Thr Synonymous 11/12 -
5-96116808-G-A ERAP1 c.2542C>T p.Leu848Leu Synonymous 17/20 -
11-33079445-G-T TCP11L1 c.418-20G>T - IntronicSNV - 4/9
3-112066562-G-A CD200 c.654G>A p.Thr218Thr Synonymous 5/7 -
3-183017965-T-C MCF2L2 c.1133A>G p.Gln378Arg Missense 11/30 -
3-183017965-T-A MCF2L2 c.1133A>T p.Gln378Leu Missense 11/30 -
2-224765894-G-A WDFY1 c.485+6C>T - IntronicSNV - 5/11
9-2828765-C-G PUM3 c.866G>C p.Arg289Pro Missense 9/18 -
9-2828765-C-T PUM3 c.866G>A p.Arg289Gln Missense 9/18 -
7-111981007-G-A ZNF277 c.1090G>A p.Val364Met Missense 11/12 -
16-1370614-C-T UBE2I c.413+96C>T - IntronicSNV - 6/6
11-57509429-A-C SELENOH c.268+3A>C - IntronicSNV - 2/3
5-154291409-C-G GEMIN5 c.2042G>C p.Arg681Pro Missense 15/28 -
22-39122038-C-T GTPBP1 c.1101C>T p.Asn367Asn Synonymous 7/12 -
5-154291409-C-T GEMIN5 c.2042G>A p.Arg681Gln Missense 15/28 -
17-4722876-G-A PLD2 c.2461G>A p.Gly821Ser Missense 23/25 -
6-74229258-G-A EEF1A1 c.145-19C>T - IntronicSNV - 2/7
17-4722876-G-C PLD2 c.2461G>C p.Gly821Arg Missense 23/25 -
14-20822308-A-G PARP2 c.665A>G p.Asp222Gly Missense 8/16 -
17-46128122-A-G NFE2L1 c.1-359A>G - 5-UTRSNV 2/6 -
10-50960209-G-A OGDHL c.564C>T p.Leu188Leu Synonymous 5/23 -
6-32411035-A-T HLA-DRA c.402A>T p.Ile134Ile Synonymous 3/5 -
6-3264502-G-T PSMG4 c.250+509G>T - IntronicSNV - 2/2
12-57058609-C-T PTGES3 c.439-25G>A - IntronicSNV - 6/7
14-23371055-G-C RBM23 c.1284C>G p.Phe428Leu Missense 13/14 -
15-94899354-T-C MCTP2 c.1006-12T>C - IntronicSNV - 7/21
15-94899354-T-G MCTP2 c.1006-12T>G - IntronicSNV - 7/21
7-135047703-T-A CNOT4 c.1854A>T p.Thr618Thr Synonymous 11/11 -
5-72874907-A-C UTP15 c.1212A>C p.Gly404Gly Synonymous 11/13 -
13-111315405-G-A CARS2 c.987+393C>T - IntronicSNV - 9/14
14-67769177-A-C MPP5 c.852A>C p.Val284Val Synonymous 7/15 -
10-50960209-G-C OGDHL c.564C>G p.Leu188Leu Synonymous 5/23 -
6-28327371-G-C ZKSCAN3 c.8G>C p.Arg3Thr Missense 2/6 -
6-32975869-G-A HLA-DOA c.252C>T p.Gly84Gly Synonymous 2/5 -
6-32781554-G-A HLA-DOB c.700C>T p.Leu234Phe Missense 4/6 -
1-229635521-A-G NUP133 c.558T>C p.Tyr186Tyr Synonymous 5/26 -
11-244197-T-C PSMD13 c.246T>C p.His82His Synonymous 4/13 -
11-82892209-T-C PCF11 c.4143T>C p.His1381His Synonymous 12/16 -
3-172232780-G-T TNFSF10 c.141C>A p.Asp47Glu Missense 2/3 -
3-172232780-G-A TNFSF10 c.141C>T p.Asp47Asp Synonymous 2/3 -
3-15476011-C-T EAF1 c.492C>T p.Pro164Pro Synonymous 4/6 -
12-121435427-G-A HNF1A c.1460G>A p.Ser487Asn Missense 7/10 -
20-20484043-A-G RALGAPA2 c.5160T>C p.His1720His Synonymous 35/40 -
3-15476011-C-A EAF1 c.492C>A p.Pro164Pro Synonymous 4/6 -
3-15476011-C-G EAF1 c.492C>G p.Pro164Pro Synonymous 4/6 -
13-46946157-C-T RUBCNL c.454G>A p.Gly152Arg Missense 3/15 -
12-9833524-C-A CLEC2D c.67C>A p.Leu23Met Missense 2/5 -
13-46946157-C-G RUBCNL c.454G>C p.Gly152Arg Missense 3/15 -
2-172725301-A-G SLC25A12 c.99T>C p.Tyr33Tyr Synonymous 3/18 -
9-131027982-G-C GOLGA2 c.710-12C>G - intron_variant - 10/25
20-48746189-C-G TMEM189 c.372G>C p.Pro124Pro Synonymous 4/6 -
20-48746189-C-T TMEM189 c.372G>A p.Pro124Pro Synonymous 4/6 -
13-113888201-T-C CUL4A c.376-10T>C - IntronicSNV - 6/19
1-171556165-G-A PRRC2C c.7767G>A p.Ser2589Ser Synonymous 31/34 -
1-171556165-G-C PRRC2C c.7767G>C p.Ser2589Ser Synonymous 31/34 -
1-224484350-T-C NVL c.1063-30A>G - IntronicSNV - 10/22
19-49954803-C-T PIH1D1 c.29G>A p.Gly10Glu Missense 1/9 -
19-50484234-G-A VRK3 c.1254C>T p.Cys418Cys Synonymous 13/15 -
4-44682465-T-C GUF1 c.173T>C p.Leu58Pro Missense 2/17 -
21-26965205-T-C MRPL39 c.840A>G p.Val280Val Synonymous 8/10 -
22-31342376-G-C MORC2 c.192C>G p.Thr64Thr Synonymous 7/27 -
2-128495645-G-A WDR33 c.725-11294C>T - IntronicSNV - 7/21
18-32920649-G-C ZNF24 c.1-35C>G - 5-UTRSNV 2/4 -
8-22472950-C-A CCAR2 c.1218C>A p.Ala406Ala Synonymous 12/21 -
14-23945366-A-T NGDN c.544+5A>T - IntronicSNV - 7/10
15-42129373-C-A JMJD7 c.*19C>A - 3-UTRSNV 8/8 -
13-50141362-G-C RCBTB1 c.54C>G p.Ile18Met Missense 3/13 -
15-42129373-C-G JMJD7 c.*19C>G - 3-UTRSNV 8/8 -
20-256727-T-A C20orf96 c.913A>T p.Ile305Phe Missense 10/11 -
19-50361856-C-T PTOV1 c.987C>T p.Phe329Phe Synonymous 10/13 -
18-54448778-G-A WDR7 c.3081G>A p.Ala1027Ala Synonymous 19/28 -
18-54448778-G-C WDR7 c.3081G>C p.Ala1027Ala Synonymous 19/28 -
22-38046718-A-G SH3BP1 c.1584A>G p.Ala528Ala Synonymous 16/18 -
19-39379906-G-A SIRT2 c.322-111C>T - IntronicSNV - 6/12
10-98380277-C-T PIK3AP1 c.1773G>A p.Ser591Ser Synonymous 12/17 -
10-99148151-A-G RRP12 c.890-15T>C - IntronicSNV - 7/33
3-52853480-T-A ITIH4 c.2006A>T p.Gln669Leu Missense 17/24 -
17-6662782-A-C XAF1 c.169-199A>C - IntronicSNV - 2/6
1-32155472-G-A COL16A1 c.1510-20C>T - IntronicSNV - 22/70
19-39421928-T-G MRPS12 c.1-7T>G - 5-UTRSNV 1/2 -
19-39421928-T-C MRPS12 c.1-7T>C - 5-UTRSNV 1/2 -
12-113532617-A-G DTX1 c.1251A>G p.Arg417Arg Synonymous 6/9 -
2-233407120-C-T CHRNG c.507-13C>T - IntronicSNV - 5/11
7-137600690-C-G CREB3L2 c.388G>C p.Val130Leu Missense 3/12 -
17-42287519-C-T UBTF c.1599G>A p.Lys533Lys Synonymous 15/21 -
6-42984837-C-T KLHDC3 c.1-94C>T - IntronicSNV - 1/10
12-62979216-G-A MON2 c.4842G>A p.Arg1614Arg Synonymous 33/35 -
8-144893084-G-A SCRIB c.1265C>T p.Pro422Leu Missense 11/36 -
2-3504687-A-C ADI1 c.318T>G p.Asp106Glu Missense 3/4 -
16-67969930-A-G PSMB10 c.319T>C p.Leu107Leu Synonymous 4/8 -
16-67969930-A-T PSMB10 c.319T>A p.Leu107Ile Missense 4/8 -
19-12813683-T-C TNPO2 c.2259A>G p.Glu753Glu Synonymous 20/25 -
10-3154461-G-C PFKP c.1137G>C p.Ala379Ala Synonymous 11/22 -
10-3154461-G-A PFKP c.1137G>A p.Ala379Ala Synonymous 11/22 -
6-33232522-G-A VPS52 c.1400+37C>T - IntronicSNV - 13/19
12-6569983-C-G TAPBPL c.1208-38C>G - IntronicSNV - 5/6
11-71941212-A-G INPPL1 c.987A>G p.Ser329Ser Synonymous 9/28 -
2-55437014-C-T CLHC1 c.500-47G>A - IntronicSNV - 5/12
2-55437014-C-A CLHC1 c.500-47G>T - IntronicSNV - 5/12
14-78028803-A-G SPTLC2 c.786T>C p.Asn262Asn Synonymous 6/12 -
6-33648228-C-G ITPR3 c.4347C>G p.Ala1449Ala Synonymous 32/58 -
19-1124053-A-G SBNO2 c.442-32T>C - IntronicSNV - 5/31
19-39068641-A-T RYR1 c.14256A>T p.Thr4752Thr Synonymous 98/106 -
5-96139250-C-G ERAP1 c.380G>C p.Arg127Pro Missense 2/20 -
2-65245365-G-A SLC1A4 c.1195G>A p.Val399Ile Missense 6/8 -
19-17615609-T-G SLC27A1 c.*188T>G - 3-UTRSNV 12/12 -
9-390512-C-A DOCK8 c.2916C>A p.Thr972Thr Synonymous 24/48 -
14-20841313-G-A TEP1 c.6815-7C>T - IntronicSNV - 47/54
18-77728135-G-T HSBP1L1 c.165G>T p.Lys55Asn Missense 3/4 -
17-43175906-C-T NMT1 c.870C>T p.Pro290Pro Synonymous 7/12 -
8-142161736-A-C DENND3 c.634A>C p.Thr212Pro Missense 6/23 -
5-7885907-C-A MTRR c.997C>A p.Leu333Ile Missense 7/15 -
2-23919375-C-T KLHL29 c.2097C>T p.His699His Synonymous 11/14 -
2-23919375-C-G KLHL29 c.2097C>G p.His699Gln Missense 11/14 -
14-100840596-G-C WARS c.-74+1024C>G - intron_variant - 1/10
6-32411523-T-A HLA-DRA c.611-10T>A - IntronicSNV - 3/4
6-32411523-T-C HLA-DRA c.611-10T>C - IntronicSNV - 3/4
9-37426524-C-T GRHPR c.288-11C>T - IntronicSNV - 3/8
20-5903141-G-C CHGB c.351G>C p.Lys117Asn Missense 4/5 -
16-55361493-C-G IRX6 c.414-5C>G - IntronicSNV - 3/5
9-390512-C-G DOCK8 c.2916C>G p.Thr972Thr Synonymous 24/48 -
11-32124978-T-C RCN1 c.840T>C p.His280His Synonymous 5/6 -
8-53540695-T-C RB1CC1 c.4533A>G p.Leu1511Leu Synonymous 22/24 -
8-124450364-G-T WDYHV1 c.508+790G>T - IntronicSNV - 5/5
22-31946282-T-C SFI1 c.492T>C p.Tyr164Tyr Synonymous 6/32 -
1-220955168-A-C MARC2 c.933A>C p.Pro311Pro Synonymous 7/8 -
1-220955168-A-G MARC2 c.933A>G p.Pro311Pro Synonymous 7/8 -
6-74229258-G-T EEF1A1 c.145-19C>A - IntronicSNV - 2/7
12-105582245-A-G APPL2 c.1460-20T>C - IntronicSNV - 16/20
11-16848077-G-A PLEKHA7 c.933C>T p.His311His Synonymous 10/23 -
4-39116775-A-T KLHL5 c.1903-4A>T - splice_region_variant,intron_variant - 10/11
6-36995222-G-T FGD2 c.1623G>T p.Thr541Thr Synonymous 15/16 -
9-127643456-T-C GOLGA1 c.2217A>G p.Glu739Glu Synonymous 22/23 -
6-72011086-C-A OGFRL1 c.693-3C>A - IntronicSNV - 6/6
2-215820013-G-A ABCA12 c.6306C>T p.Tyr2102Tyr Synonymous 43/53 -
2-215820013-G-T ABCA12 c.6306C>A p.Tyr2102* Nonsense 43/53 -
22-45566843-A-G NUP50 c.70-638A>G - IntronicSNV - 2/7
3-158366900-G-A GFM1 c.643G>A p.Val215Ile Missense 5/18 -
4-39116775-A-G KLHL5 c.1903-4A>G - splice_region_variant,intron_variant - 10/11
5-96245343-C-G ERAP2 c.2229C>G p.Gly743Gly Synonymous 15/19 -
1-246755124-T-A CNST c.260T>A p.Leu87* Nonsense 2/11 -
1-246755124-T-C CNST c.260T>C p.Leu87Ser Missense 2/11 -
3-121350593-C-A HCLS1 c.*100G>T - 3-UTRSNV 14/14 -
22-35742925-T-G TOM1 c.1287T>G p.Gly429Gly Synonymous 14/15 -
4-187122319-T-A CYP4V2 c.810T>A p.Ala270Ala Synonymous 7/11 -
4-57881715-G-A POLR2B c.1848G>A p.Thr616Thr Synonymous 14/25 -
11-96121855-C-T CCDC82 c.-138-1078G>A - intron_variant - 1/9
18-71928150-C-T CYB5A c.288G>A p.Pro96Pro Synonymous 3/6 -
5-96139250-C-A ERAP1 c.380G>T p.Arg127Leu Missense 2/20 -
13-50141362-G-T RCBTB1 c.54C>A p.Ile18Ile Synonymous 3/13 -
13-50141362-G-A RCBTB1 c.54C>T p.Ile18Ile Synonymous 3/13 -
19-41255500-C-T C19orf54 c.209G>A p.Arg70His Missense 1/6 -
1-10479678-G-C PGD c.1333-9G>C - IntronicSNV - 12/12
1-10479678-G-A PGD c.1333-9G>A - IntronicSNV - 12/12
14-20916249-T-C OSGEP c.702+16A>G - IntronicSNV - 7/10
10-114192285-G-A ZDHHC6 c.946-6C>T - IntronicSNV - 8/10
21-44270309-G-A WDR4 c.1086C>T p.Ala362Ala Synonymous 11/11 -
5-96245343-C-T ERAP2 c.2229C>T p.Gly743Gly Synonymous 15/19 -
4-187122319-T-G CYP4V2 c.810T>G p.Ala270Ala Synonymous 7/11 -
10-114205389-G-A ZDHHC6 c.1-195C>T - 5-UTRSNV 2/11 -
7-44620836-C-A TMED4 c.390G>T p.Arg130Arg Synonymous 4/5 -
19-41255500-C-G C19orf54 c.209G>C p.Arg70Pro Missense 1/6 -
19-41255500-C-A C19orf54 c.209G>T p.Arg70Leu Missense 1/6 -
7-89984409-A-G GTPBP10 c.329A>G p.Asn110Ser Missense 4/10 -
6-7602857-C-T SNRNP48 c.597C>T p.Asp199Asp Synonymous 6/9 -
7-137600690-C-A CREB3L2 c.388G>T p.Val130Phe Missense 3/12 -
2-48025764-C-T MSH6 c.642C>T p.Tyr214Tyr Synonymous 4/10 -
17-72771766-C-T NAT9 c.72G>A p.Val24Val Synonymous 2/7 -
5-95234350-A-G ELL2 c.1119T>C p.Pro373Pro Synonymous 8/12 -
4-122737472-C-T EXOSC9 c.1157-52C>T - IntronicSNV - 10/11
10-99504630-G-T ZFYVE27 c.413G>T p.Gly138Val Missense 4/13 -
16-21188649-G-A TMEM159 c.405-2147G>A - IntronicSNV - 4/4
2-48025764-C-G MSH6 c.642C>G p.Tyr214* Nonsense 4/10 -
2-48025764-C-A MSH6 c.642C>A p.Tyr214* Nonsense 4/10 -
17-72771766-C-G NAT9 c.72G>C p.Val24Val Synonymous 2/7 -
3-45557707-G-A LARS2 c.1983G>A p.Thr661Thr Synonymous 17/22 -
3-47045846-C-T NBEAL2 c.6161C>T p.Ser2054Phe Missense 37/54 -
21-47641794-C-T LSS c.524G>A p.Arg175Gln Missense 5/23 -
4-122737472-C-A EXOSC9 c.1157-52C>A - IntronicSNV - 10/11
10-100176869-C-T HPS1 c.*452G>A - 3-UTRSNV 20/20 -
10-81940701-A-C ANXA11 c.-62T>G - 5_prime_UTR_variant 2/17 -
10-81940701-A-G ANXA11 c.-62T>C - 5_prime_UTR_variant 2/17 -
6-30888161-T-C VARS2 c.1345T>C p.Trp449Arg Missense 14/30 -
6-26391005-C-A BTN2A2 c.953-26C>A - IntronicSNV - 6/7
6-2834265-C-T SERPINB1 c.736-19G>A - IntronicSNV - 6/6
17-8138643-A-C CTC1 c.1207-40T>G - IntronicSNV - 7/22
5-139941318-A-G APBB3 c.633-11T>C - IntronicSNV - 7/12
17-8138643-A-G CTC1 c.1207-40T>C - IntronicSNV - 7/22
15-83499766-G-A WHAMM c.2057G>A p.Arg686His Missense 9/10 -
17-37830900-A-G PGAP3 c.465T>C p.Val155Val Synonymous 4/8 -
21-47423389-G-A COL6A1 c.2549G>A p.Arg850His Missense 35/35 -
15-83499766-G-T WHAMM c.2057G>T p.Arg686Leu Missense 9/10 -
2-234750831-T-C HJURP c.595A>G p.Arg199Gly Missense 8/9 -
5-149907533-T-G NDST1 c.681T>G p.Val227Val Synonymous 3/15 -
10-100182285-T-C HPS1 c.1599-15A>G - IntronicSNV - 16/19
11-11976628-G-A USP47 c.3606G>A p.Gln1202Gln Synonymous 26/27 -
11-11976628-G-C USP47 c.3606G>C p.Gln1202His Missense 26/27 -
10-99141205-A-G RRP12 c.1356T>C p.Ala452Ala Synonymous 12/34 -
22-24447303-G-T CABIN1 c.673G>T p.Asp225Tyr Missense 8/37 -
12-14664595-A-G PLBD1 c.895T>C p.Leu299Leu Synonymous 7/11 -
1-6586070-C-T NOL9 c.1960-7G>A - IntronicSNV - 11/11
9-123912542-T-C CNTRL c.3744T>C p.Thr1248Thr Synonymous 23/42 -
9-123912542-T-G CNTRL c.3744T>G p.Thr1248Thr Synonymous 23/42 -
12-30868002-C-T CAPRIN2 c.2391G>A p.Val797Val Synonymous 14/17 -
6-33648228-C-T ITPR3 c.4347C>T p.Ala1449Ala Synonymous 32/58 -
16-67964604-C-T CTRL c.318+25G>A - IntronicSNV - 4/6
19-49950356-C-G PIH1D1 c.612G>C p.Gly204Gly Synonymous 7/9 -
5-96121524-C-T ERAP1 c.1911G>A p.Ala637Ala Synonymous 13/20 -
14-51237701-A-G NIN c.1128T>C p.Val376Val Synonymous 11/30 -
11-34991727-T-C PDHX c.858T>C p.Val286Val Synonymous 7/11 -
14-51237701-A-T NIN c.1128T>A p.Val376Val Synonymous 11/30 -
3-195800811-C-T TFRC c.424G>A p.Gly142Ser Missense 4/19 -
1-160914917-G-C ITLN2 c.*13C>G - 3-UTRSNV 8/8 -
1-46496709-A-T MAST2 c.2739A>T p.Ser913Ser Synonymous 23/29 -
14-74759301-G-T ABCD4 c.981C>A p.Leu327Leu Synonymous 10/19 -
10-98469507-C-A PIK3AP1 c.247G>T p.Ala83Ser Missense 2/17 -
6-11193860-G-A NEDD9 c.525C>T p.Asp175Asp Synonymous 3/7 -
17-33269648-C-G CCT6B c.740G>C p.Gly247Ala Missense 7/14 -
8-28950280-C-G KIF13B c.4440G>C p.Pro1480Pro Synonymous 37/40 -
17-48628470-T-A SPATA20 c.1495T>A p.Ser499Thr Missense 12/17 -
2-135920091-C-T RAB3GAP1 c.2290-34C>T - IntronicSNV - 19/23
10-50678317-C-G ERCC6 c.3689G>C p.Arg1230Pro Missense 18/21 -
11-33079445-G-A TCP11L1 c.418-20G>A - IntronicSNV - 4/9
10-99376152-A-G MORN4 c.309T>C p.Pro103Pro Synonymous 5/5 -
5-61847073-G-T IPO11 c.2370G>T p.Thr790Thr Synonymous 26/30 -
8-28950280-C-T KIF13B c.4440G>A p.Pro1480Pro Synonymous 37/40 -
20-3193893-A-C ITPA c.124+21A>C - IntronicSNV - 2/7
7-43690243-C-T COA1 c.1-2030G>A - IntronicSNV - 1/5
10-50678317-C-T ERCC6 c.3689G>A p.Arg1230His Missense 18/21 -
3-11849807-A-C TAMM41 c.874+1184T>G - IntronicSNV - 6/6
15-63970456-T-C HERC1 c.6658A>G p.Ile2220Val Missense 37/78 -
1-220331205-C-G RAB3GAP2 c.3275G>C p.Ser1092Thr Missense 30/35 -
3-66434643-T-C LRIG1 c.1843A>G p.Met615Val Missense 14/19 -
1-161680258-G-A FCRLA c.80-292G>A - intron_variant - 1/4
17-58121453-G-A HEATR6 c.3017C>T p.Ser1006Leu Missense 20/20 -
19-6417855-G-A KHSRP c.979-3C>T - IntronicSNV - 10/19
14-23567443-C-T C14orf119 c.*153C>T - 3-UTRSNV 2/2 -
5-70840233-C-T BDP1 c.6462C>T p.Leu2154Leu Synonymous 31/39 -
1-236706862-G-C LGALS8 c.678G>C p.Arg226Ser Missense 10/12 -
1-58971831-G-A OMA1 c.1266C>T p.Phe422Phe Synonymous 8/9 -
11-85427450-G-A SYTL2 c.5530+1076C>T - intron_variant - 11/19
5-122718736-G-A CEP120 c.1804C>T p.Leu602Leu Synonymous 13/21 -
15-91525318-C-T PRC1 c.268-107G>A - IntronicSNV - 3/14
17-67101718-C-T ABCA6 c.2625G>A p.Met875Ile Missense 20/39 -
3-52727257-G-A GNL3 c.1099G>A p.Val367Met Missense 11/15 -
18-9815099-C-T RAB31 c.274-14C>T - IntronicSNV - 4/6
1-114449662-T-C DCLRE1B c.234T>C p.His78His Synonymous 2/4 -
1-114449662-T-A DCLRE1B c.234T>A p.His78Gln Missense 2/4 -
14-57741563-G-A AP5M1 c.676G>A p.Gly226Ser Missense 2/8 -
14-20823052-G-A PARP2 c.848G>A p.Arg283Gln Missense 9/16 -
14-20823052-G-C PARP2 c.848G>C p.Arg283Pro Missense 9/16 -
19-35648365-T-G FXYD5 c.103T>G p.Ser35Ala Missense 3/9 -
12-22213786-C-T CMAS c.714C>T p.Tyr238Tyr Synonymous 5/8 -
19-35648365-T-A FXYD5 c.103T>A p.Ser35Thr Missense 3/9 -
9-33442986-A-C AQP3 c.374-18T>G - IntronicSNV - 3/5
12-120661977-T-C PXN c.217A>G p.Ser73Gly Missense 2/11 -
17-4620497-C-T ARRB2 c.358-15C>T - IntronicSNV - 5/14
7-23239133-C-T NUPL2 c.666C>T p.Ser222Ser Synonymous 6/7 -
14-74759006-C-T ABCD4 c.1102G>A p.Glu368Lys Missense 11/19 -
12-6569983-C-T TAPBPL c.1208-38C>T - IntronicSNV - 5/6
12-49500509-C-G LMBR1L c.157+235G>C - IntronicSNV - 2/16
12-49500509-C-A LMBR1L c.157+235G>T - IntronicSNV - 2/16
12-49500509-C-T LMBR1L c.157+235G>A - IntronicSNV - 2/16
3-122439629-T-A PARP14 c.4941+394T>A - IntronicSNV - 15/16
6-33232522-G-T VPS52 c.1400+37C>A - IntronicSNV - 13/19
12-58017701-T-G B4GALNT1 c.*2826A>C - IntergenicSNV 11/11 -
10-33209266-G-C ITGB1 c.1176C>G p.Gly392Gly Synonymous 10/16 -
5-96249115-C-T ERAP2 c.2611C>T p.Leu871Leu Synonymous 17/19 -
1-160971015-G-C F11R c.133+60C>G - IntronicSNV - 2/9
8-144657269-G-T NAPRT c.1447-6C>A - IntronicSNV - 11/12
17-61903445-G-C FTSJ3 c.271C>G p.Gln91Glu Missense 5/21 -
1-160914917-G-A ITLN2 c.*13C>T - 3-UTRSNV 8/8 -
13-111301612-C-G CARS2 c.1054+1769G>C - IntronicSNV - 10/14
12-58017701-T-C B4GALNT1 c.*2826A>G - IntergenicSNV 11/11 -
10-33209266-G-T ITGB1 c.1176C>A p.Gly392Gly Synonymous 10/16 -
5-179300131-T-C TBC1D9B c.2304A>G p.Lys768Lys Synonymous 13/21 -
16-84213965-G-A TAF1C c.1108-15C>T - IntronicSNV - 12/14
20-25193863-T-C ENTPD6 c.403-36T>C - IntronicSNV - 3/13
7-99707712-A-G TAF6 c.1159-16T>C - IntronicSNV - 11/14
7-99707712-A-T TAF6 c.1159-16T>A - IntronicSNV - 11/14
8-144657269-G-A NAPRT c.1447-6C>T - IntronicSNV - 11/12
8-144657269-G-C NAPRT c.1447-6C>G - IntronicSNV - 11/12
1-6586070-C-G NOL9 c.1960-7G>C - IntronicSNV - 11/11
17-43195699-G-A PLCD3 c.1074C>T p.Asp358Asp Synonymous 6/16 -
15-42740369-C-T ZNF106 c.2967G>A p.Ala989Ala Synonymous 3/19 -
19-45490570-A-G CLPTM1 c.927A>G p.Pro309Pro Synonymous 8/14 -
15-89015930-T-C MRPS11 c.255T>C p.Ile85Ile Synonymous 3/6 -
17-78113832-G-A EIF4A3 c.480C>T p.Val160Val Synonymous 5/12 -
17-78113832-G-C EIF4A3 c.480C>G p.Val160Val Synonymous 5/12 -
6-32411035-A-C HLA-DRA c.402A>C p.Ile134Ile Synonymous 3/5 -
3-52407041-C-T DNAH1 c.6957C>T p.His2319His Synonymous 44/78 -
3-16327855-T-G OXNAD1 c.190T>G p.Ser64Ala Missense 5/9 -
11-126201290-A-G DCPS c.377-10A>G - IntronicSNV - 2/5
19-9267319-G-T ZNF317 c.57G>T p.Gln19His Missense 3/7 -
11-18764026-G-C PTPN5 c.412C>G p.Pro138Ala Missense 7/15 -
11-18764026-G-A PTPN5 c.412C>T p.Pro138Ser Missense 7/15 -
19-9267319-G-A ZNF317 c.57G>A p.Gln19Gln Synonymous 3/7 -
2-224765956-C-T WDFY1 c.429G>A p.Thr143Thr Synonymous 5/12 -
1-160461060-C-T SLAMF6 c.501G>A p.Glu167Glu Synonymous 3/8 -
21-42771176-T-C MX2 c.1326T>C p.Val442Val Synonymous 10/14 -
7-133981227-G-A SLC35B4 c.674-9C>T - IntronicSNV - 8/9
15-90126121-C-T TICRR c.859C>T p.Arg287Cys Missense 2/22 -
3-170811667-G-A TNIK c.2682C>T p.Ser894Ser Synonymous 23/33 -
16-8941857-G-A PMM2 c.*175G>A - 3-UTRSNV 8/8 -
2-179464527-T-A TTN c.48397A>T p.Asn16133Tyr Missense 238/312 -
2-179464527-T-C TTN c.48397A>G p.Asn16133Asp Missense 238/312 -
9-33941759-T-C UBAP2 c.1817A>G p.Asn606Ser Missense 16/29 -
1-33245802-C-G YARS c.1218G>C p.Leu406Leu Synonymous 11/13 -
4-139100372-C-T SLC7A11 c.1443G>A p.Ser481Ser Synonymous 11/12 -
7-156469179-C-T RNF32 c.919C>T p.Arg307Cys Missense 9/9 -
1-78184325-A-G USP33 c.1786T>C p.Leu596Leu Synonymous 17/25 -
5-112889374-G-A YTHDC2 c.1955G>A p.Ser652Asn Missense 14/30 -
22-43203137-C-T ARFGAP3 c.1353G>A p.Ser451Ser Synonymous 14/16 -
17-685752-G-C MRM3 c.134G>C p.Gly45Ala Missense 1/4 -
6-2836266-T-A SERPINB1 c.568-9A>T - IntronicSNV - 5/6
16-81032065-T-G CMC2 c.1-1066A>C - IntronicSNV - 1/3
6-37348920-C-G RNF8 c.1237-6C>G - IntronicSNV - 6/7
4-84515968-C-T GPAT3 c.739-30C>T - IntronicSNV - 6/11
4-84515968-C-G GPAT3 c.739-30C>G - IntronicSNV - 6/11
1-51873951-G-A EPS15 c.1329C>T p.Tyr443Tyr Synonymous 15/25 -
1-51873951-G-C EPS15 c.1329C>G p.Tyr443* Nonsense 15/25 -
19-39880011-G-A PAF1 c.372C>T p.His124His Synonymous 6/14 -
16-57499902-T-A POLR2C c.174T>A p.Val58Val Synonymous 3/9 -
1-45480434-T-A UROD c.801T>A p.Phe267Leu Missense 8/10 -
8-124448736-A-G WDYHV1 c.278A>G p.Asn93Ser Missense 4/6 -
2-29135468-C-T WDR43 c.498C>T p.Gly166Gly Synonymous 4/18 -
2-29135468-C-A WDR43 c.498C>A p.Gly166Gly Synonymous 4/18 -
2-29135468-C-G WDR43 c.498C>G p.Gly166Gly Synonymous 4/18 -
19-41930396-A-G BCKDHA c.1221A>G p.Leu407Leu Synonymous 9/9 -
18-76870347-T-G ATP9B c.294-8T>G - IntronicSNV - 2/29
22-24447303-G-A CABIN1 c.673G>A p.Asp225Asn Missense 8/37 -
6-33256471-T-C WDR46 c.280A>G p.Thr94Ala Missense 3/15 -
19-50312653-C-T FUZ c.672G>A p.Leu224Leu Synonymous 6/11 -
7-99696797-T-C MCM7 c.1-98A>G - 5-UTRSNV 4/14 -
12-9833524-C-G CLEC2D c.67C>G p.Leu23Val Missense 2/5 -
6-31118511-T-G CCHCR1 c.825A>C p.Glu275Asp Missense 6/18 -
14-23374862-C-T RBM23 c.408G>A p.Arg136Arg Synonymous 6/14 -
17-685752-G-A MRM3 c.134G>A p.Gly45Glu Missense 1/4 -
3-101576175-T-C NFKBIZ c.1975T>C p.Leu659Leu Synonymous 11/12 -
8-86027418-A-G LRRCC1 c.628A>G p.Thr210Ala Missense 5/19 -
5-81549216-C-T ATG10 c.635C>T p.Thr212Met Missense 8/9 -
1-20097941-G-T TMCO4 c.214C>A p.Gln72Lys Missense 5/16 -
2-136624155-G-A MCM6 c.759C>T p.Asp253Asp Synonymous 5/17 -
1-60314703-T-C HOOK1 c.1132-42T>C - IntronicSNV - 11/21
4-103557077-G-A MANBA c.2102C>T p.Thr701Met Missense 15/17 -
4-103557077-G-C MANBA c.2102C>G p.Thr701Arg Missense 15/17 -
9-35712003-G-A TLN1 c.3680C>T p.Ser1227Leu Missense 28/57 -
3-13395475-G-C NUP210 c.2461C>G p.Pro821Ala Missense 17/40 -
8-95419698-A-G RAD54B c.750T>C p.Asn250Asn Synonymous 5/15 -
11-121448090-T-G SORL1 c.3561T>G p.Ser1187Ser Synonymous 25/48 -
12-82783668-C-T METTL25 c.498C>T p.Ile166Ile Synonymous 3/12 -
9-115952895-T-C FKBP15 c.1066-37A>G - IntronicSNV - 11/27
5-159437466-C-T TTC1 c.1-70C>T - IntronicSNV - 1/7
18-32834186-T-G ZSCAN30 c.713A>C p.Gln238Pro Missense 4/4 -
19-9529783-G-C ZNF266 c.-280C>G - 5_prime_UTR_variant 6/11 -
3-9876919-G-A ARPC4-TTLL3 c.*414G>A - 3-UTRSNV 12/12 -
2-241463453-C-T ANKMY1 c.991G>A p.Val331Met Missense 6/14 -
22-19868218-A-G TXNRD2 c.1109T>C p.Ile370Thr Missense 13/18 -
12-9832822-C-T CLEC2D c.62-697C>T - IntronicSNV - 1/4
2-241463453-C-A ANKMY1 c.991G>T p.Val331Leu Missense 6/14 -
8-17796382-A-T PCM1 c.476A>T p.Asn159Ile Missense 5/39 -
9-93637015-C-G SYK c.996C>G p.Pro332Pro Synonymous 8/13 -
9-93637015-C-T SYK c.996C>T p.Pro332Pro Synonymous 8/13 -
8-17796382-A-G PCM1 c.476A>G p.Asn159Ser Missense 5/39 -
8-6303025-G-A MCPH1 c.1782G>A p.Thr594Thr Synonymous 8/14 -
6-33677556-C-A UQCC2 c.138+1770G>T - IntronicSNV - 1/3
5-74998426-G-A POC5 c.438+4C>T - IntronicSNV - 4/10
16-700644-G-A WDR90 c.494G>A p.Ser165Asn Missense 5/41 -
18-9562042-C-T PPP4R1 c.1727G>A p.Ser576Asn Missense 13/20 -
8-142161736-A-T DENND3 c.634A>T p.Thr212Ser Missense 6/23 -
16-700644-G-C WDR90 c.494G>C p.Ser165Thr Missense 5/41 -
8-31000144-C-A WRN c.3236C>A p.Ser1079* Nonsense 27/35 -
19-17394504-A-C ANKLE1 c.931A>C - missense_variant 5/9 -
15-42453963-T-C VPS39 c.2469A>G p.Glu823Glu Synonymous 24/25 -
12-57535266-C-A LRP1 c.300C>A p.Asp100Glu Missense 3/89 -
12-57535266-C-T LRP1 c.300C>T p.Asp100Asp Synonymous 3/89 -
7-135047703-T-C CNOT4 c.1854A>G p.Thr618Thr Synonymous 11/11 -
2-190647726-A-G ORMDL1 c.-8+14T>C - intron_variant - 2/4
7-135047703-T-G CNOT4 c.1854A>C p.Thr618Thr Synonymous 11/11 -
8-22472950-C-T CCAR2 c.1218C>T p.Ala406Ala Synonymous 12/21 -
15-78758677-G-C IREB2 c.475G>C p.Val159Leu Missense 5/22 -
10-102744214-T-C SEMA4G c.1706-33T>C - IntronicSNV - 13/13
9-117124731-G-A AKNA c.1871C>T p.Pro624Leu Missense 8/22 -
13-99457431-T-C DOCK9 c.5592A>G p.Ala1864Ala Synonymous 52/57 -
13-99457431-T-G DOCK9 c.5592A>C p.Ala1864Ala Synonymous 52/57 -
12-53671005-G-T ESPL1 c.2079G>T p.Met693Ile Missense 9/31 -
12-6619284-C-T NCAPD2 c.247C>T p.Gln83* Nonsense 4/32 -
12-6619284-C-G NCAPD2 c.247C>G p.Gln83Glu Missense 4/32 -
12-6619284-C-A NCAPD2 c.247C>A p.Gln83Lys Missense 4/32 -
11-57509429-A-G SELENOH c.268+3A>G - IntronicSNV - 2/3
13-25823451-A-G MTMR6 c.1785T>C p.Tyr595Tyr Synonymous 14/14 -
17-71201675-T-C COG1 c.2383-17T>C - IntronicSNV - 9/13
17-41165493-A-G IFI35 c.382A>G p.Met128Val Missense 5/7 -
11-113211370-T-A TTC12 c.827-16T>A - IntronicSNV - 10/21
11-113211370-T-G TTC12 c.827-16T>G - IntronicSNV - 10/21
6-32411646-T-G HLA-DRA c.724T>G p.Leu242Val Missense 4/5 -
10-73579217-C-T PSAP c.1350+5G>A - IntronicSNV - 11/13
2-109429146-T-A CCDC138 c.915T>A p.Ala305Ala Synonymous 8/15 -
6-170059627-G-A WDR27 c.1130-13C>T - IntronicSNV - 10/25
8-31000144-C-T WRN c.3236C>T p.Ser1079Leu Missense 27/35 -
18-43490602-G-A EPG5 c.4089C>T p.His1363His Synonymous 23/44 -
17-80051183-A-G FASN c.567T>C p.Asn189Asn Synonymous 5/43 -
7-99956290-C-T PILRB c.65-23C>T - IntronicSNV - 1/3
7-99956290-C-G PILRB c.65-23C>G - IntronicSNV - 1/3
7-99956290-C-A PILRB c.65-23C>A - IntronicSNV - 1/3
9-390512-C-T DOCK8 c.2916C>T p.Thr972Thr Synonymous 24/48 -
13-75876389-G-A TBC1D4 c.2901C>T p.Leu967Leu Synonymous 16/21 -
16-74664743-T-C RFWD3 c.1690A>G p.Ile564Val Missense 10/13 -
7-150501516-A-G TMEM176A c.622A>G p.Thr208Ala Missense 6/7 -
7-150501516-A-T TMEM176A c.622A>T p.Thr208Ser Missense 6/7 -
6-90418262-C-T MDN1 c.7851G>A p.Thr2617Thr Synonymous 51/102 -
11-94212048-C-T MRE11 c.403-6G>A - IntronicSNV - 5/19
2-55490819-G-C MTIF2 c.176C>G p.Thr59Ser Missense 4/16 -
22-30689998-G-A TBC1D10A c.807C>T p.Leu269Leu Synonymous 7/9 -
21-40800525-T-C LCA5L c.1-106A>G - IntronicSNV 2/10 -
12-56743367-T-C STAT2 c.1257+6A>G - IntronicSNV - 14/23
1-46810530-A-G NSUN4 c.151A>G p.Thr51Ala Missense 2/6 -
16-57499902-T-C POLR2C c.174T>C p.Val58Val Synonymous 3/9 -
14-20819248-A-G PARP2 c.464A>G p.Asn155Ser Missense 6/16 -
5-74981322-A-T POC5 c.1055-13T>A - IntronicSNV - 8/10
2-128495645-G-C WDR33 c.725-11294C>G - IntronicSNV - 7/21
21-47863757-A-C PCNT c.9735A>C p.Arg3245Ser Missense 45/47 -
5-74981322-A-C POC5 c.1055-13T>G - IntronicSNV - 8/10
17-37814080-G-A STARD3 c.350G>A p.Arg117Gln Missense 4/15 -
4-8390948-C-T ACOX3 c.1489G>A p.Asp497Asn Missense 13/17 -
12-22213786-C-G CMAS c.714C>G p.Tyr238* Nonsense 5/8 -
13-76432051-G-A LMO7 c.4028-6G>A - IntronicSNV - 29/29
2-231036860-C-T SP110 c.1737G>A p.Met579Ile Missense 16/19 -
11-64544135-C-G SF1 c.32-37G>C - IntronicSNV - 1/12
11-64544135-C-A SF1 c.32-37G>T - IntronicSNV - 1/12
1-46496709-A-G MAST2 c.2739A>G p.Ser913Ser Synonymous 23/29 -
10-3200292-G-A PITRM1 c.1190C>T p.Ala397Val Missense 11/27 -
1-36772868-C-G SH3D21 c.1-7C>G - 5-UTRSNV 1/13 -
6-33543116-C-T BAK1 c.309G>A p.Thr103Thr Synonymous 4/6 -
6-24437445-G-A GPLD1 c.2093C>T p.Thr698Ile Missense 21/25 -
21-43805656-T-C TMPRSS3 c.447-13A>G - IntronicSNV - 5/12
13-76432051-G-T LMO7 c.4028-6G>T - IntronicSNV - 29/29
6-89913209-C-T GABRR1 c.123-2225G>A - IntronicSNV - 1/8
6-89913209-C-A GABRR1 c.123-2225G>T - IntronicSNV - 1/8
22-31838085-G-A EIF4ENIF1 c.2226C>T p.Ser742Ser Synonymous 17/19 -
11-244414-C-T PSMD13 c.266-12C>T - IntronicSNV - 4/12
7-99711040-G-A TAF6 c.398-12C>T - IntronicSNV - 4/14
15-42740369-C-A ZNF106 c.2967G>T p.Ala989Ala Synonymous 3/19 -
11-64544135-C-T SF1 c.32-37G>A - IntronicSNV - 1/12
18-674440-A-T ENOSF1 c.1231-34T>A - IntronicSNV - 15/15
7-138764233-C-T ZC3HAV1 c.1454G>A p.Arg485Lys Missense 4/13 -
3-33458266-T-C UBP1 c.326A>G p.Asn109Ser Missense 3/16 -
3-33458266-T-A UBP1 c.326A>T p.Asn109Ile Missense 3/16 -
6-26410227-G-C BTN3A1 c.782-7G>C - IntronicSNV - 6/9
2-3504687-A-G ADI1 c.318T>C p.Asp106Asp Synonymous 3/4 -
1-160970968-G-A F11R c.134-51C>T - IntronicSNV - 2/9
6-26410227-G-A BTN3A1 c.782-7G>A - IntronicSNV - 6/9
14-23388326-A-C RBM23 c.-129T>G - 5_prime_UTR_variant 1/14 -
14-23388326-A-G RBM23 c.-129T>C - 5_prime_UTR_variant 1/14 -
16-87741662-C-A KLHDC4 c.*21G>T - 3_prime_UTR_variant 12/12 -
12-53671005-G-A ESPL1 c.2079G>A p.Met693Ile Missense 9/31 -
22-31859859-A-G EIF4ENIF1 c.393T>C p.Val131Val Synonymous 5/19 -