Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
7-92243672-G-A | CDK6 | c.*782C>T | - | 3-UTRSNV | 8/8 | - |
3-52835354-C-T | ITIH3 | c.1383+192C>T | - | IntronicSNV | - | 11/21 |
17-38188419-C-T | MED24 | c.937-76G>A | - | IntronicSNV | - | 9/25 |
11-108077181-A-G | NPAT | c.38-9034T>C | - | IntronicSNV | - | 1/17 |
17-61763185-T-C | MAP3K3 | c.710+235T>C | - | IntronicSNV | - | 8/15 |
3-49572140-A-G | DAG1 | c.*1508A>G | - | 3-UTRSNV | 6/6 | - |
21-30717737-T-C | BACH1 | c.*2583T>C | - | 3-UTRSNV | 5/5 | - |
17-64307014-G-A | PRKCA | c.205+4769G>A | - | IntronicSNV | - | 2/16 |
7-124462661-C-A | POT1 | c.*1355G>T | - | 3-UTRSNV | 18/18 | - |
7-124462661-C-T | POT1 | c.*1355G>A | - | 3-UTRSNV | 18/18 | - |
20-33622242-A-C | TRPC4AP | c.1051+684T>G | - | IntronicSNV | - | 8/18 |
3-128356852-C-T | RPN1 | c.423G>A | p.Pro141Pro | Synonymous | 3/10 | - |
19-5834212-C-T | FUT6 | c.-13+749G>A | - | intron_variant | - | 2/2 |
8-145737816-C-T | RECQL4 | c.3014G>A | - | missense_variant | 18/22 | - |
2-44705615-A-G | CAMKMT | c.376+88171A>G | - | IntronicSNV | - | 3/10 |
2-44705615-A-T | CAMKMT | c.376+88171A>T | - | IntronicSNV | - | 3/10 |
20-33969530-C-G | UQCC1 | c.333+191G>C | - | IntronicSNV | - | 4/9 |
17-7476549-T-C | EIF4A1 | c.23+367T>C | - | IntronicSNV | - | 1/10 |
8-145037573-T-A | PLEC | c.193+11772A>T | - | IntronicSNV | - | 2/32 |
17-37922259-G-A | IKZF3 | c.1314C>T | p.Ser438Ser | Synonymous | 8/8 | - |
1-211922014-A-G | LPGAT1 | c.*1227T>C | - | 3-UTRSNV | 8/8 | - |
1-228682330-C-G | RNF187 | c.*744C>G | - | 3-UTRSNV | 4/4 | - |
1-183109034-G-A | LAMC1 | c.4474-505G>A | - | IntronicSNV | - | 26/27 |
12-53670545-C-A | ESPL1 | c.1842C>A | p.Ser614Arg | Missense | 8/31 | - |
7-106773708-T-G | PRKAR2B | c.480+4968T>G | - | IntronicSNV | - | 4/10 |
7-106773708-T-A | PRKAR2B | c.480+4968T>A | - | IntronicSNV | - | 4/10 |
15-66048958-A-C | DENND4A | c.1-170T>G | - | IntronicSNV | 1/32 | - |
1-169511555-T-C | F5 | c.2773A>G | p.Lys925Glu | Missense | 13/25 | - |
1-113189053-G-A | CAPZA1 | c.40-779G>A | - | IntronicSNV | - | 1/9 |
5-131660431-A-T | SLC22A4 | c.824+2383A>T | - | IntronicSNV | - | 4/9 |
5-131660431-A-G | SLC22A4 | c.824+2383A>G | - | IntronicSNV | - | 4/9 |
10-46013277-A-T | MARCH8 | c.102+15281T>A | - | IntronicSNV | - | 2/6 |
8-144995494-C-T | PLEC | c.8576G>A | p.Arg2859His | Missense | 33/33 | - |
15-66035718-A-G | DENND4A | c.562-1596T>C | - | IntronicSNV | - | 4/31 |
16-11963361-A-G | GSPT1 | c.*3615T>C | - | 3-UTRSNV | 15/15 | - |
3-27442336-G-A | SLC4A7 | c.2319C>T | p.Asn773Asn | Synonymous | 16/25 | - |
6-31711124-C-A | MSH5 | c.415+177C>A | - | IntronicSNV | - | 5/24 |
1-162085309-C-T | NOS1AP | c.106-38886C>T | - | IntronicSNV | - | 1/9 |
5-36900843-G-A | NIPBL | c.-80+23563G>A | - | intron_variant | - | 1/45 |
9-111866749-C-G | TMEM245 | c.799+2039G>C | - | IntronicSNV | - | 3/17 |
16-69605349-T-C | NFAT5 | c.-218+2898T>C | - | intron_variant | - | 2/15 |
11-69461731-C-T | CCND1 | c.575-1031C>T | - | IntronicSNV | - | 3/4 |
12-62730305-A-G | USP15 | c.683+10591A>G | - | IntronicSNV | - | 6/20 |
12-107350988-G-A | TMEM263 | c.-7+61G>A | - | intron_variant | - | 2/3 |
6-28126834-C-T | ZKSCAN8 | c.*5039C>T | - | 3-UTRSNV | 7/7 | - |
1-212237798-G-A | DTL | c.527-461G>A | - | IntronicSNV | - | 6/14 |
1-85787118-G-A | DDAH1 | c.*17C>T | - | 3-UTRSNV | 7/7 | - |
1-90102173-C-T | LRRC8C | c.-5+3292C>T | - | intron_variant | - | 1/2 |
11-68235275-G-C | PPP6R3 | c.-263+6980G>C | - | intron_variant | - | 1/22 |
9-131874641-A-G | PTPA | c.31+731A>G | - | IntronicSNV | - | 2/10 |
12-58133256-G-T | AGAP2 | c.160+2439C>A | - | IntronicSNV | - | 1/17 |
12-58133256-G-A | AGAP2 | c.160+2439C>T | - | IntronicSNV | - | 1/17 |
1-242012033-G-C | EXO1 | c.-314G>C | - | 5_prime_UTR_variant | 1/14 | - |
1-242012033-G-A | EXO1 | c.-314G>A | - | 5_prime_UTR_variant | 1/14 | - |
1-242012033-G-T | EXO1 | c.-314G>T | - | 5_prime_UTR_variant | 1/14 | - |
19-11227326-C-G | LDLR | c.1706-209C>G | - | IntronicSNV | - | 11/17 |
19-11227326-C-A | LDLR | c.1706-209C>A | - | IntronicSNV | - | 11/17 |
12-110719192-C-G | ATP2A2 | c.1-403C>G | - | 5-UTRSNV | 1/21 | - |
2-61762161-A-G | XPO1 | c.1-1129T>C | - | IntronicSNV | - | 1/24 |
21-47669300-C-A | MCM3AP | c.4290+2143G>T | - | IntronicSNV | - | 20/27 |
17-2268311-G-A | SGSM2 | c.1121G>A | p.Arg374Gln | Missense | 10/24 | - |
16-81534790-T-A | CMIP | c.18+5691T>A | - | IntronicSNV | - | 1/20 |
17-37976469-C-T | IKZF3 | c.163+9171G>A | - | IntronicSNV | - | 3/7 |
12-94092690-C-G | CRADD | c.298+19842C>G | - | IntronicSNV | - | 2/2 |
2-27600239-G-A | SNX17 | c.*653G>A | - | 3-UTRSNV | 15/15 | - |
6-5262235-G-T | FARS2 | c.-22+342G>T | - | intron_variant | - | 1/6 |
3-30710140-G-T | TGFBR2 | c.530-2990G>T | - | IntronicSNV | - | 4/7 |
11-3010390-C-G | NAP1L4 | c.-18+3094G>C | - | intron_variant | - | 1/15 |
11-3010390-C-T | NAP1L4 | c.-18+3094G>A | - | intron_variant | - | 1/15 |
19-6713175-G-C | C3 | c.1003+25C>G | - | IntronicSNV | - | 9/40 |
19-6713175-G-T | C3 | c.1003+25C>A | - | IntronicSNV | - | 9/40 |
15-99281833-C-A | IGF1R | c.640+30497C>A | - | IntronicSNV | - | 2/20 |
15-99281833-C-G | IGF1R | c.640+30497C>G | - | IntronicSNV | - | 2/20 |
17-47370449-T-C | ZNF652 | c.*5326A>G | - | 3-UTRSNV | 6/6 | - |
5-131633355-T-C | SLC22A4 | c.393+2653T>C | - | IntronicSNV | - | 1/9 |
20-48599561-G-C | SNAI1 | c.1-36G>C | - | 5-UTRSNV | 1/3 | - |
6-34763982-C-T | UHRF1BP1 | c.44+3911C>T | - | IntronicSNV | - | 1/20 |
16-28921809-T-C | RABEP2 | c.1089+400A>G | - | IntronicSNV | - | 7/12 |
2-61763165-T-C | XPO1 | c.-7+1532A>G | - | intron_variant | - | 1/24 |
2-61763165-T-A | XPO1 | c.-7+1532A>T | - | intron_variant | - | 1/24 |
11-47440758-G-A | PSMC3 | c.1128-10C>T | - | IntronicSNV | - | 10/11 |
18-34376565-C-T | TPGS2 | c.*203G>A | - | 3-UTRSNV | 7/7 | - |
17-80051183-A-G | FASN | c.567T>C | p.Asn189Asn | Synonymous | 5/43 | - |
16-68326200-A-C | SLC7A6 | c.1022+636A>C | - | IntronicSNV | - | 7/10 |
2-42276452-G-A | PKDCC | c.639+474G>A | - | IntronicSNV | - | 1/6 |
12-62743348-T-A | USP15 | c.684-5764T>A | - | IntronicSNV | - | 6/20 |
6-131924689-G-A | MED23 | c.1757-345C>T | - | IntronicSNV | - | 15/29 |
6-131924689-G-T | MED23 | c.1757-345C>A | - | IntronicSNV | - | 15/29 |
6-31637734-A-T | CSNK2B | c.*31A>T | - | 3-UTRSNV | 7/7 | - |
3-38528537-G-C | ACVR2B | c.*3714G>C | - | 3-UTRSNV | 11/11 | - |
3-38528537-G-A | ACVR2B | c.*3714G>A | - | 3-UTRSNV | 11/11 | - |
3-38528537-G-T | ACVR2B | c.*3714G>T | - | 3-UTRSNV | 11/11 | - |
12-111175557-C-A | PPP1CC | c.55+4901G>T | - | IntronicSNV | - | 1/7 |
21-44478393-G-A | CBS | c.1359-30C>T | - | IntronicSNV | - | 14/16 |
16-11154770-G-A | CLEC16A | c.2007G>A | p.Val669Val | Synonymous | 19/24 | - |
1-11858550-C-T | MTHFR | c.586+1719G>A | - | IntronicSNV | - | 4/11 |
7-100286435-G-A | GIGYF1 | c.1-574C>T | - | 5-UTRSNV | 1/24 | - |
7-100286435-G-C | GIGYF1 | c.1-574C>G | - | 5-UTRSNV | 1/24 | - |
3-39111140-C-A | WDR48 | c.577C>A | p.Arg193Arg | Synonymous | 7/19 | - |
4-735150-G-A | PCGF3 | c.263-2112G>A | - | IntronicSNV | - | 6/10 |
7-72857049-A-G | BAZ1B | c.4094+6T>C | - | IntronicSNV | - | 18/19 |
1-65822517-G-C | DNAJC6 | c.194-7801G>C | - | IntronicSNV | - | 1/18 |
9-38041142-T-G | SHB | c.718-25014A>C | - | IntronicSNV | - | 1/5 |
1-41556253-C-T | SCMH1 | c.716-15130G>A | - | IntronicSNV | - | 8/15 |
15-50946815-A-G | TRPM7 | c.122+3163T>C | - | IntronicSNV | - | 3/38 |
11-68192346-T-G | LRP5 | c.3237-224T>G | - | IntronicSNV | - | 14/22 |
12-120894685-C-T | GATC | c.255-194C>T | - | IntronicSNV | - | 2/3 |
7-150647970-C-G | KCNH2 | c.2145+39G>C | - | IntronicSNV | - | 8/14 |
17-53356126-G-T | HLF | c.451+10679G>T | - | IntronicSNV | - | 2/3 |
11-17394073-C-G | NCR3LG1 | c.*14C>G | - | 3-UTRSNV | 5/5 | - |
4-155488821-C-T | FGB | c.567C>T | p.Ser189Ser | Synonymous | 4/8 | - |
1-8425798-C-T | RERE | c.1447+74G>A | - | IntronicSNV | - | 13/22 |
6-167442995-C-T | FGFR1OP | c.988+2892C>T | - | IntronicSNV | - | 10/12 |
12-53682457-G-A | ESPL1 | c.4682G>A | p.Arg1561Gln | Missense | 20/31 | - |
12-122630285-G-A | MLXIP | c.*3926G>A | - | 3_prime_UTR_variant | 17/17 | - |
15-89863928-T-G | POLG | c.2981+69A>C | - | IntronicSNV | - | 18/22 |
15-99282558-A-G | IGF1R | c.640+31222A>G | - | IntronicSNV | - | 2/20 |
10-71093392-C-T | HK1 | c.64-10191C>T | - | IntronicSNV | - | 1/17 |
15-89844688-A-C | FANCI | c.2826+15A>C | - | IntronicSNV | - | 26/36 |
6-5262230-A-G | FARS2 | c.-22+337A>G | - | intron_variant | - | 1/6 |
6-127600630-G-A | RNF146 | c.-348-746G>A | - | intron_variant | - | 1/4 |
2-198164530-A-G | ANKRD44 | c.27+10772T>C | - | IntronicSNV | - | 1/9 |
20-21146839-T-C | KIZ | c.1352+3039T>C | - | IntronicSNV | - | 6/13 |
20-21146839-T-A | KIZ | c.1352+3039T>A | - | IntronicSNV | - | 6/13 |
3-53857803-A-T | CHDH | c.233T>A | p.Leu78His | Missense | 3/9 | - |
10-71099888-G-A | HK1 | c.64-3695G>A | - | IntronicSNV | - | 1/17 |
4-74316729-G-C | AFP | c.1428+259G>C | - | IntronicSNV | - | 11/14 |
4-74316729-G-A | AFP | c.1428+259G>A | - | IntronicSNV | - | 11/14 |
20-48600809-G-A | SNAI1 | c.531G>A | p.Thr177Thr | Synonymous | 2/3 | - |
20-48600809-G-T | SNAI1 | c.531G>T | p.Thr177Thr | Synonymous | 2/3 | - |
2-219432953-G-C | USP37 | c.-282C>G | - | 5_prime_UTR_variant | 1/26 | - |
12-53727955-G-C | SP7 | c.21+1455C>G | - | IntronicSNV | - | 2/2 |
3-53849510-A-T | CHDH | c.*2294T>A | - | IntergenicSNV | 9/9 | - |
3-53849510-A-G | CHDH | c.*2294T>C | - | IntergenicSNV | 9/9 | - |
6-5262233-A-G | FARS2 | c.-22+340A>G | - | intron_variant | - | 1/6 |
16-87876812-T-C | SLC7A5 | c.665-2051A>G | - | IntronicSNV | - | 2/9 |
9-107589134-A-T | ABCA1 | c.2337+95T>A | - | IntronicSNV | - | 16/49 |
2-61741947-T-C | XPO1 | c.301+7799A>G | - | IntronicSNV | - | 4/24 |
17-53364788-C-A | HLF | c.451+19341C>A | - | IntronicSNV | - | 2/3 |
17-53364788-C-G | HLF | c.451+19341C>G | - | IntronicSNV | - | 2/3 |
17-80111026-T-C | CCDC57 | c.2241+4598A>G | - | IntronicSNV | - | 14/16 |
6-5262220-C-G | FARS2 | c.-22+327C>G | - | intron_variant | - | 1/6 |
5-1322087-C-T | CLPTM1L | c.1316-153G>A | - | IntronicSNV | - | 13/16 |
17-80112223-C-A | CCDC57 | c.2241+3401G>T | - | IntronicSNV | - | 14/16 |
17-80112223-C-T | CCDC57 | c.2241+3401G>A | - | IntronicSNV | - | 14/16 |
5-95246867-G-A | ELL2 | c.481+2608C>T | - | IntronicSNV | - | 4/11 |
11-46849360-G-A | CKAP5 | c.1-6578C>T | - | IntronicSNV | - | 1/42 |
15-65979132-A-G | DENND4A | c.4047+3621T>C | - | IntronicSNV | - | 22/31 |
12-62740429-A-G | USP15 | c.684-8683A>G | - | IntronicSNV | - | 6/20 |
7-123388732-G-A | WASL | c.57C>T | p.Ser19Ser | Synonymous | 1/11 | - |
7-150648789-T-C | KCNH2 | c.1692A>G | p.Leu564Leu | Synonymous | 7/15 | - |
20-25458320-T-C | NINL | c.2202-595A>G | - | IntronicSNV | - | 16/23 |
10-1102386-G-A | WDR37 | c.-563G>A | - | 5_prime_UTR_variant | 1/14 | - |
5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
10-114808072-T-C | TCF7L2 | c.483+8187T>C | - | IntronicSNV | - | 4/13 |
9-100684719-A-C | TRMO | c.57T>G | p.Val19Val | Synonymous | 1/5 | - |
8-121627640-G-A | SNTB1 | c.996+17044C>T | - | IntronicSNV | - | 3/6 |
1-169499951-C-T | F5 | c.5208+73G>A | - | IntronicSNV | - | 15/24 |
1-169512120-G-A | F5 | c.2208C>T | p.Ile736Ile | Synonymous | 13/25 | - |
20-34243017-C-T | RBM12 | c.228G>A | p.Lys76Lys | Synonymous | 3/3 | - |
1-90356728-C-T | LRRC8D | c.1-41900C>T | - | IntronicSNV | - | 2/2 |
1-234584231-C-T | TARBP1 | c.1956G>A | p.Gln652Gln | Synonymous | 11/30 | - |
1-242040775-C-T | EXO1 | c.1515-1276C>T | - | IntronicSNV | - | 10/13 |
1-61639503-G-A | NFIA | c.559+85151G>A | - | IntronicSNV | - | 2/9 |
11-46392825-C-G | DGKZ | c.1135-38C>G | - | IntronicSNV | - | 7/31 |
11-46392825-C-T | DGKZ | c.1135-38C>T | - | IntronicSNV | - | 7/31 |
15-58245986-T-A | ALDH1A2 | c.*1409A>T | - | 3-UTRSNV | 14/14 | - |
6-167437162-T-A | FGFR1OP | c.806+1039T>A | - | IntronicSNV | - | 8/12 |
16-67980969-G-C | SLC12A4 | c.2112C>G | p.Leu704Leu | Synonymous | 17/24 | - |
16-67980969-G-A | SLC12A4 | c.2112C>T | p.Leu704Leu | Synonymous | 17/24 | - |
1-59162148-T-C | MYSM1 | c.69-1269A>G | - | IntronicSNV | - | 1/19 |
4-1238859-G-C | CTBP1 | c.40+3845C>G | - | IntronicSNV | - | 1/8 |
4-1238859-G-A | CTBP1 | c.40+3845C>T | - | IntronicSNV | - | 1/8 |
2-11722575-A-G | GREB1 | c.901+1617A>G | - | IntronicSNV | - | 7/32 |
2-216295312-T-A | FN1 | c.685+126A>T | - | IntronicSNV | - | 5/43 |
2-242272388-A-G | SEPT2 | c.131-2153A>G | - | IntronicSNV | - | 3/12 |
7-150933044-C-T | CHPF2 | c.828+346C>T | - | IntronicSNV | - | 2/3 |
5-446923-G-A | EXOC3 | c.144+459G>A | - | IntronicSNV | - | 2/12 |
6-31380529-A-G | MICA | c.*321A>G | - | IntronicSNV | - | 5/5 |
6-31380529-A-T | MICA | c.*321A>T | - | IntronicSNV | - | 5/5 |
9-111809295-A-C | TMEM245 | c.2123+3268T>G | - | IntronicSNV | - | 14/17 |
21-40672344-G-A | BRWD1 | c.199-1836C>T | - | IntronicSNV | - | 4/40 |
15-99282587-G-A | IGF1R | c.640+31251G>A | - | IntronicSNV | - | 2/20 |
6-111803059-T-C | REV3L | c.139+894A>G | - | IntronicSNV | - | 2/32 |
11-126277216-C-T | ST3GAL4 | c.240C>T | p.Tyr80Tyr | Synonymous | 5/11 | - |
2-71566841-G-C | ZNF638 | c.-203+7836G>C | - | intron_variant | - | 1/27 |
12-112190438-C-A | ACAD10 | c.2818-1138C>A | - | IntronicSNV | - | 18/20 |
3-48463711-T-C | PLXNB1 | c.1419+29A>G | - | IntronicSNV | - | 5/37 |
5-110435490-C-G | WDR36 | c.578-798C>G | - | IntronicSNV | - | 4/22 |
5-110435490-C-T | WDR36 | c.578-798C>T | - | IntronicSNV | - | 4/22 |
1-26884864-G-A | RPS6KA1 | c.1085-434G>A | - | IntronicSNV | - | 13/21 |
1-89271574-T-C | PKN2 | c.1677T>C | p.Ser559Ser | Synonymous | 12/22 | - |
13-25010544-T-C | PARP4 | c.3667-932A>G | - | IntronicSNV | - | 30/33 |
17-80114145-C-T | CCDC57 | c.2241+1479G>A | - | IntronicSNV | - | 14/16 |
17-80114145-C-G | CCDC57 | c.2241+1479G>C | - | IntronicSNV | - | 14/16 |
7-107566430-A-G | LAMB1 | c.5064+198T>C | - | IntronicSNV | - | 32/33 |
7-106782683-G-A | PRKAR2B | c.587+1285G>A | - | IntronicSNV | - | 5/10 |
2-219302466-G-A | VIL1 | c.2160+431G>A | - | IntronicSNV | - | 17/19 |
20-21218023-C-T | KIZ | c.1877+4555C>T | - | intron_variant | - | 12/13 |
7-107569517-A-G | LAMB1 | c.4879T>C | p.Leu1627Leu | Synonymous | 31/34 | - |
1-158586966-A-T | SPTA1 | c.6600+361T>A | - | IntronicSNV | - | 47/51 |
17-2266812-T-C | SGSM2 | c.726T>C | p.Cys242Cys | Synonymous | 7/24 | - |
17-2266812-T-G | SGSM2 | c.726T>G | p.Cys242Trp | Missense | 7/24 | - |
6-31106459-C-T | PSORS1C1 | c.70C>T | p.Pro24Ser | Missense | 5/6 | - |
6-31106459-C-A | PSORS1C1 | c.70C>A | p.Pro24Thr | Missense | 5/6 | - |
7-2795957-A-G | GNA12 | c.526-22822T>C | - | IntronicSNV | - | 2/3 |
6-33659046-G-C | ITPR3 | c.7225+160G>C | - | IntronicSNV | - | 52/57 |
6-33659046-G-A | ITPR3 | c.7225+160G>A | - | IntronicSNV | - | 52/57 |
17-42254011-C-T | ASB16 | c.570-95C>T | - | IntronicSNV | - | 2/4 |
17-42254011-C-G | ASB16 | c.570-95C>G | - | IntronicSNV | - | 2/4 |
17-20903776-T-C | USP22 | c.*2568A>G | - | 3-UTRSNV | 13/13 | - |
21-40549466-T-C | PSMG1 | c.687A>G | p.Pro229Pro | Synonymous | 6/7 | - |
5-131633355-T-A | SLC22A4 | c.393+2653T>A | - | IntronicSNV | - | 1/9 |
19-10397238-C-T | ICAM1 | c.*1275C>T | - | 3-UTRSNV | 7/7 | - |
1-54233511-T-C | NDC1 | c.*132A>G | - | 3-UTRSNV | 18/18 | - |
11-64573589-T-C | MEN1 | c.1064+115A>G | - | IntronicSNV | - | 7/9 |
11-64573589-T-G | MEN1 | c.1064+115A>C | - | IntronicSNV | - | 7/9 |
2-61762384-G-T | XPO1 | c.1-1352C>A | - | IntronicSNV | - | 1/24 |
16-12006338-C-T | GSPT1 | c.352+2888G>A | - | IntronicSNV | - | 1/14 |
18-56384192-T-G | MALT1 | c.1018+993T>G | - | IntronicSNV | - | 9/16 |
18-56384192-T-A | MALT1 | c.1018+993T>A | - | IntronicSNV | - | 9/16 |
20-61491494-T-G | TCFL5 | c.814A>C | p.Asn272His | Missense | 2/6 | - |
2-11727507-G-A | GREB1 | c.1160-1365G>A | - | IntronicSNV | - | 9/32 |
12-110002819-A-G | MMAB | c.348+105T>C | - | IntronicSNV | - | 4/8 |
19-17389704-G-A | BABAM1 | c.837G>A | p.Lys279Lys | Synonymous | 9/9 | - |
16-68269479-A-G | ESRP2 | c.327+58T>C | - | IntronicSNV | - | 2/14 |
11-46695414-T-C | ATG13 | c.*1530T>C | - | 3_prime_UTR_variant | 17/17 | - |
12-124447841-G-C | CCDC92 | c.-60+9235C>G | - | intron_variant | - | 1/4 |
2-97405440-G-A | LMAN2L | c.187+151C>T | - | IntronicSNV | - | 1/7 |
2-42990336-T-G | OXER1 | c.984A>C | p.Arg328Arg | Synonymous | 1/1 | - |
1-54683925-G-C | MRPL37 | c.*3G>C | - | 3-UTRSNV | 7/7 | - |
9-131910093-G-T | PTPA | c.*350G>T | - | 3-UTRSNV | 11/11 | - |
6-33658066-G-C | ITPR3 | c.7032+91G>C | - | IntronicSNV | - | 51/57 |
9-131910093-G-A | PTPA | c.*350G>A | - | 3-UTRSNV | 11/11 | - |
6-31130593-G-A | TCF19 | c.*99G>A | - | 3-UTRSNV | 4/4 | - |
11-102091244-T-G | YAP1 | c.871-3109T>G | - | IntronicSNV | - | 4/6 |
8-30924557-C-T | WRN | c.513C>T | p.Cys171Cys | Synonymous | 6/35 | - |
10-114138028-A-C | ACSL5 | c.139+1822A>C | - | IntronicSNV | - | 1/20 |
10-114138028-A-G | ACSL5 | c.139+1822A>G | - | IntronicSNV | - | 1/20 |
10-114138028-A-T | ACSL5 | c.139+1822A>T | - | IntronicSNV | - | 1/20 |
16-67911517-T-C | EDC4 | c.747T>C | p.Cys249Cys | Synonymous | 6/29 | - |
15-50873344-T-A | TRPM7 | c.4558-239A>T | - | IntronicSNV | - | 29/38 |
20-34432670-A-G | PHF20 | c.255+2004A>G | - | IntronicSNV | - | 3/17 |
20-34432670-A-T | PHF20 | c.255+2004A>T | - | IntronicSNV | - | 3/17 |
17-80115247-T-G | CCDC57 | c.2241+377A>C | - | IntronicSNV | - | 14/16 |
12-90081188-T-A | ATP2B1 | c.-222+21808A>T | - | intron_variant | - | 1/20 |
12-90081188-T-G | ATP2B1 | c.-222+21808A>C | - | intron_variant | - | 1/20 |
12-90081188-T-C | ATP2B1 | c.-222+21808A>G | - | intron_variant | - | 1/20 |
7-72971231-C-T | BCL7B | c.92+586G>A | - | IntronicSNV | - | 1/5 |
2-11734335-A-T | GREB1 | c.1697-1042A>T | - | IntronicSNV | - | 11/32 |
18-44675462-G-C | HDHD2 | c.-11+1287C>G | - | intron_variant | - | 1/6 |
2-11734335-A-C | GREB1 | c.1697-1042A>C | - | IntronicSNV | - | 11/32 |
17-27869968-G-A | TAOK1 | c.2934G>A | p.Thr978Thr | Synonymous | 20/20 | - |
1-61619056-C-T | NFIA | c.559+64704C>T | - | IntronicSNV | - | 2/9 |
16-88535670-C-T | ZFPM1 | c.40+15584C>T | - | IntronicSNV | - | 1/9 |
1-61760664-C-T | NFIA | c.625+17407C>T | - | IntronicSNV | - | 3/9 |
19-18533642-T-C | SSBP4 | c.59+3125T>C | - | IntronicSNV | - | 1/17 |
8-19819328-T-C | LPL | c.1323-298T>C | - | IntronicSNV | - | 8/9 |
16-71790221-A-G | AP1G1 | c.1098-159T>C | - | IntronicSNV | - | 12/23 |
1-19765518-T-G | CAPZB | c.4-19274A>C | - | IntronicSNV | - | 1/9 |
2-39963667-A-G | THUMPD2 | c.*208T>C | - | 3-UTRSNV | 10/10 | - |
11-65365318-T-C | MAP3K11 | c.*444A>G | - | 3-UTRSNV | 10/10 | - |
6-31106268-A-G | PSORS1C1 | c.43+32A>G | - | IntronicSNV | - | 4/5 |
12-122494809-T-C | BCL7A | c.561+1977T>C | - | IntronicSNV | - | 5/5 |
12-6435571-A-G | PLEKHG6 | c.1525-23A>G | - | IntronicSNV | - | 13/15 |
8-15532585-T-C | TUSC3 | c.798+1240T>C | - | IntronicSNV | - | 6/10 |
17-64210014-A-C | APOH | c.982+557T>G | - | IntronicSNV | - | 7/7 |
16-4013467-C-T | ADCY9 | c.*2309G>A | - | 3-UTRSNV | 11/11 | - |
20-47772264-A-G | STAU1 | c.206-1656T>C | - | IntronicSNV | - | 3/13 |
17-80110957-C-T | CCDC57 | c.2241+4667G>A | - | IntronicSNV | - | 14/16 |
1-29503214-G-C | SRSF4 | c.107+4944C>G | - | IntronicSNV | - | 1/5 |
19-19468710-C-T | MAU2 | c.*2119C>T | - | 3-UTRSNV | 19/19 | - |
4-146040377-C-T | ABCE1 | c.923-707C>T | - | IntronicSNV | - | 10/17 |
17-7478962-A-G | EIF4A1 | c.345+386A>G | - | IntronicSNV | - | 4/10 |
12-120189879-A-G | CIT | c.2754T>C | p.Ala918Ala | Synonymous | 22/47 | - |
19-19468710-C-G | MAU2 | c.*2119C>G | - | 3-UTRSNV | 19/19 | - |
5-95274702-A-G | ELL2 | c.195+4004T>C | - | IntronicSNV | - | 2/11 |
6-41533579-C-A | FOXP4 | c.81C>A | p.Ala27Ala | Synonymous | 2/17 | - |
11-17409572-T-C | KCNJ11 | c.67A>G | p.Lys23Glu | Missense | 1/1 | - |
5-1344458-G-A | CLPTM1L | c.263+8C>T | - | IntronicSNV | - | 2/16 |
19-6718387-G-T | C3 | c.304C>A | p.Arg102Ser | Missense | 3/41 | - |
19-6718387-G-C | C3 | c.304C>G | p.Arg102Gly | Missense | 3/41 | - |
21-44475796-T-C | CBS | c.1552+1117A>G | - | IntronicSNV | - | 16/16 |
7-23494500-C-T | IGF2BP3 | c.236+13601G>A | - | IntronicSNV | - | 2/14 |
1-114969641-C-T | TRIM33 | c.1420+158G>A | - | IntronicSNV | - | 8/19 |
12-76449900-T-G | NAP1L1 | c.471A>C | p.Lys157Asn | Missense | 7/16 | - |
21-47639992-G-A | LSS | c.551-506C>T | - | IntronicSNV | - | 5/22 |
21-47639992-G-C | LSS | c.551-506C>G | - | IntronicSNV | - | 5/22 |
12-120903179-T-C | SRSF9 | c.349+251A>G | - | IntronicSNV | - | 2/3 |
16-12009304-C-A | GSPT1 | c.274G>T | p.Gly92Cys | Missense | 1/15 | - |
9-107589580-A-T | ABCA1 | c.2116-130T>A | - | IntronicSNV | - | 15/49 |
1-61609529-A-C | NFIA | c.559+55177A>C | - | IntronicSNV | - | 2/9 |
15-89842590-A-G | FANCI | c.2457-441A>G | - | IntronicSNV | - | 23/36 |
15-89842590-A-C | FANCI | c.2457-441A>C | - | IntronicSNV | - | 23/36 |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
19-6713262-G-A | C3 | c.941C>T | p.Pro314Leu | Missense | 9/41 | - |
19-6713262-G-C | C3 | c.941C>G | p.Pro314Arg | Missense | 9/41 | - |
2-234068476-C-T | INPP5D | c.1056+1411C>T | - | intron_variant | - | 11/27 |
2-27430781-A-G | SLC5A6 | c.1-263T>C | - | IntronicSNV | - | 2/16 |
7-99217424-G-A | ZSCAN25 | c.195G>A | p.Glu65Glu | Synonymous | 4/8 | - |
8-11701096-A-C | CTSB | c.*1538T>G | - | 3-UTRSNV | 12/12 | - |
11-63963947-T-A | STIP1 | c.672+662T>A | - | IntronicSNV | - | 5/13 |
4-80946475-T-A | ANTXR2 | c.866+6302A>T | - | IntronicSNV | - | 10/16 |
6-30313268-G-C | TRIM39-RPP21 | c.1206G>C | p.Arg402Arg | Synonymous | 8/10 | - |
6-30313268-G-A | TRIM39-RPP21 | c.1206G>A | p.Arg402Arg | Synonymous | 8/10 | - |
11-86853997-A-G | TMEM135 | c.397-14386A>G | - | IntronicSNV | - | 4/14 |
20-33975181-C-A | UQCC1 | c.130-3245G>T | - | IntronicSNV | - | 2/9 |
4-17682834-T-C | FAM184B | c.1596+7213A>G | - | IntronicSNV | - | 7/17 |
1-41530871-T-C | SCMH1 | c.1075+5396A>G | - | IntronicSNV | - | 10/15 |
5-96370879-G-A | LNPEP | c.*6642G>A | - | IntergenicSNV | 18/18 | - |
2-152267072-T-A | RIF1 | c.104+31T>A | - | IntronicSNV | - | 2/34 |
12-57023284-C-G | BAZ2A | c.4+6682G>C | - | IntronicSNV | - | 1/28 |
10-46021631-T-C | MARCH8 | c.102+6927A>G | - | IntronicSNV | - | 2/6 |
21-40715167-A-C | HMGN1 | c.256-82T>G | - | IntronicSNV | - | 5/5 |
17-20924077-C-T | USP22 | c.418+349G>A | - | IntronicSNV | - | 3/12 |
1-156285764-G-C | CCT3 | c.974+1193C>G | - | IntronicSNV | - | 10/13 |
1-156285764-G-A | CCT3 | c.974+1193C>T | - | IntronicSNV | - | 10/13 |
3-49731861-G-T | RNF123 | c.168-2715G>T | - | IntronicSNV | - | 3/38 |
2-219151218-A-C | TMBIM1 | c.1-4354T>G | - | IntronicSNV | - | 1/11 |
11-64525216-C-T | PYGM | c.660+35G>A | - | IntronicSNV | - | 5/19 |
2-55843413-C-T | PPP4R3B | c.142-771G>A | - | intron_variant | - | 1/14 |
6-31590898-C-T | PRRC2A | c.112+220C>T | - | IntronicSNV | - | 2/30 |
17-70121339-A-G | SOX9 | c.*811A>G | - | 3-UTRSNV | 3/3 | - |
21-35016137-G-A | ITSN1 | c.-33+1118G>A | - | intron_variant | - | 1/39 |
5-167913510-G-C | RARS | c.7G>C | p.Val3Leu | Missense | 1/15 | - |
5-167913510-G-A | RARS | c.7G>A | p.Val3Ile | Missense | 1/15 | - |
5-167913510-G-T | RARS | c.7G>T | p.Val3Leu | Missense | 1/15 | - |
6-31238135-G-A | HLA-C | c.747C>T | p.Thr249Thr | Synonymous | 4/8 | - |
15-91437388-A-T | FES | c.2326+100A>T | - | IntronicSNV | - | 18/18 |
16-28617993-C-A | SULT1A1 | c.594+89G>T | - | IntronicSNV | - | 6/7 |
6-32136547-T-G | AGPAT1 | c.*506A>C | - | 3-UTRSNV | 7/7 | - |
1-183086757-A-C | LAMC1 | c.1776A>C | p.Ala592Ala | Synonymous | 10/28 | - |
15-91437388-A-C | FES | c.2326+100A>C | - | IntronicSNV | - | 18/18 |
4-1240962-C-G | CTBP1 | c.40+1742G>C | - | IntronicSNV | - | 1/8 |
1-8425900-T-C | RERE | c.1419A>G | p.Thr473Thr | Synonymous | 13/23 | - |
1-8425900-T-A | RERE | c.1419A>T | p.Thr473Thr | Synonymous | 13/23 | - |
5-10372618-T-C | MARCH6 | c.20-5292T>C | - | IntronicSNV | - | 1/25 |
6-167434686-T-C | FGFR1OP | c.580-1211T>C | - | IntronicSNV | - | 7/12 |
6-17668546-A-G | NUP153 | c.1068+660T>C | - | IntronicSNV | - | 8/22 |
4-703930-G-C | PCGF3 | c.-190+4171G>C | - | intron_variant | - | 1/10 |
4-703930-G-A | PCGF3 | c.-190+4171G>A | - | intron_variant | - | 1/10 |
3-122845671-C-G | PDIA5 | c.773+2481C>G | - | IntronicSNV | - | 10/16 |
2-61740646-C-T | XPO1 | c.301+9100G>A | - | IntronicSNV | - | 4/24 |
6-27833174-A-G | HIST1H2AL | c.42A>G | p.Lys14Lys | Synonymous | 1/1 | - |
16-633354-G-C | PIGQ | c.*319G>C | - | 3-UTRSNV | 11/11 | - |
19-10406635-T-A | ICAM5 | c.2497+347T>A | - | IntronicSNV | - | 10/10 |
19-18547305-T-G | ISYNA1 | c.610-16A>C | - | IntronicSNV | - | 5/10 |
19-18547305-T-A | ISYNA1 | c.610-16A>T | - | IntronicSNV | - | 5/10 |
8-145741130-C-T | RECQL4 | c.1258+18G>A | - | IntronicSNV | - | 6/21 |
12-103257876-A-G | PAH | c.509+2498T>C | - | IntronicSNV | - | 5/12 |
5-137707315-G-A | KDM3B | c.193-1048G>A | - | IntronicSNV | - | 1/23 |
5-137707315-G-C | KDM3B | c.193-1048G>C | - | IntronicSNV | - | 1/23 |
16-28619132-T-C | SULT1A1 | c.372+480A>G | - | IntronicSNV | - | 4/7 |
6-31113083-G-A | CCHCR1 | c.1473-4C>T | - | IntronicSNV | - | 12/17 |
10-114762064-G-T | TCF7L2 | c.382-37720G>T | - | IntronicSNV | - | 3/13 |
16-1838836-C-G | NUBP2 | c.*121C>G | - | 3-UTRSNV | 7/7 | - |
7-107580839-A-G | LAMB1 | c.3392-36T>C | - | IntronicSNV | - | 24/33 |
10-104775908-G-A | CNNM2 | c.1622-33556G>A | - | IntronicSNV | - | 1/7 |
1-150940625-T-A | CERS2 | c.344A>T | p.Glu115Val | Missense | 4/11 | - |
1-150940625-T-G | CERS2 | c.344A>C | p.Glu115Ala | Missense | 4/11 | - |
1-231172281-C-T | FAM89A | c.291+3386G>A | - | IntronicSNV | - | 1/1 |
9-102732237-T-C | STX17 | c.*1282T>C | - | 3-UTRSNV | 8/8 | - |
9-102732237-T-A | STX17 | c.*1282T>A | - | 3-UTRSNV | 8/8 | - |
16-74695409-G-C | RFWD3 | c.1-62C>G | - | IntronicSNV | 1/13 | - |
20-25298087-A-G | ABHD12 | c.543-373T>C | - | IntronicSNV | - | 4/12 |
11-17191019-A-G | PIK3C2A | c.270T>C | p.Ile90Ile | Synonymous | 2/33 | - |
3-30710140-G-A | TGFBR2 | c.530-2990G>A | - | IntronicSNV | - | 4/7 |
17-53056471-G-A | STXBP4 | c.-156-6504G>A | - | intron_variant | - | 1/17 |
18-72176083-T-C | CNDP2 | c.376T>C | p.Tyr126His | Missense | 5/12 | - |
6-31601843-T-C | PRRC2A | c.4719+77T>C | - | IntronicSNV | - | 18/30 |
1-109897103-A-G | SORT1 | c.594T>C | p.Phe198Phe | Synonymous | 5/20 | - |
7-138230820-C-A | TRIM24 | c.1144-4988C>A | - | IntronicSNV | - | 7/18 |
19-41310571-A-G | EGLN2 | c.844-1889A>G | - | IntronicSNV | - | 2/5 |
19-18538742-A-C | SSBP4 | c.229A>C | p.Arg77Arg | Synonymous | 4/18 | - |
4-56298194-G-A | CLOCK | c.*3388C>T | - | 3-UTRSNV | 23/23 | - |
1-8416957-G-C | RERE | c.4340-651C>G | - | IntronicSNV | - | 20/22 |
5-115516135-G-A | COMMD10 | c.510+46260G>A | - | IntronicSNV | - | 5/6 |
2-166895066-A-T | SCN1A | c.2557-424T>A | - | IntronicSNV | - | 17/28 |
8-30928146-T-G | WRN | c.724+2303T>G | - | IntronicSNV | - | 7/34 |
8-30928146-T-C | WRN | c.724+2303T>C | - | IntronicSNV | - | 7/34 |
6-31632134-C-A | GPANK1 | c.122G>T | p.Arg41Leu | Missense | 2/3 | - |
6-31632134-C-T | GPANK1 | c.122G>A | p.Arg41Gln | Missense | 2/3 | - |
1-145441620-T-A | TXNIP | c.*402T>A | - | 3-UTRSNV | 8/8 | - |
17-38146542-C-T | PSMD3 | c.981+92C>T | - | IntronicSNV | - | 6/11 |
17-38146542-C-G | PSMD3 | c.981+92C>G | - | IntronicSNV | - | 6/11 |
21-40555351-G-A | PSMG1 | c.1-40C>T | - | 5-UTRSNV | 1/7 | - |
21-40555351-G-C | PSMG1 | c.1-40C>G | - | 5-UTRSNV | 1/7 | - |
4-39116911-T-A | KLHL5 | c.2034T>A | p.Thr678Thr | Synonymous | 11/12 | - |
8-15536078-T-G | TUSC3 | c.798+4733T>G | - | IntronicSNV | - | 6/10 |
20-61472808-G-C | TCFL5 | c.*519C>G | - | 3-UTRSNV | 6/6 | - |
1-29503214-G-A | SRSF4 | c.107+4944C>T | - | IntronicSNV | - | 1/5 |
6-10981053-G-C | ELOVL2 | c.*2961C>G | - | 3-UTRSNV | 8/8 | - |
4-170642246-A-G | CLCN3 | c.*1098A>G | - | 3-UTRSNV | 12/12 | - |
12-122615515-C-G | MLXIP | c.1000+35C>G | - | intron_variant | - | 7/16 |
11-47378396-C-T | SPI1 | c.494-1299G>A | - | IntronicSNV | - | 4/4 |
9-101908365-T-G | TGFBR1 | c.900-402T>G | - | IntronicSNV | - | 5/7 |
4-84373622-A-G | HELQ | c.1012+762T>C | - | IntronicSNV | - | 2/17 |
16-30977799-G-A | SETD1A | c.2505+92G>A | - | IntronicSNV | - | 8/18 |
7-107564366-T-G | LAMB1 | c.*30A>C | - | 3-UTRSNV | 34/34 | - |
6-31378965-G-A | MICA | c.442G>A | p.Glu148Lys | Missense | 3/6 | - |
17-80086395-T-C | CCDC57 | c.2320A>G | p.Arg774Gly | Missense | 15/17 | - |
7-107564366-T-C | LAMB1 | c.*30A>G | - | 3-UTRSNV | 34/34 | - |
5-37046626-A-T | NIPBL | c.6589+325A>T | - | IntronicSNV | - | 38/45 |
1-214837110-C-G | CENPF | c.9318C>G | p.Asn3106Lys | Missense | 20/20 | - |
1-214837110-C-A | CENPF | c.9318C>A | p.Asn3106Lys | Missense | 20/20 | - |
1-214837110-C-T | CENPF | c.9318C>T | p.Asn3106Asn | Synonymous | 20/20 | - |
19-8456234-T-G | RAB11B | c.40+894T>G | - | IntronicSNV | - | 1/4 |
12-107350167-A-G | TMEM263 | c.-75+324A>G | - | intron_variant | - | 1/3 |
1-95662658-G-T | TMEM56-RWDD3 | c.473+23213G>T | - | IntronicSNV | - | 6/7 |
5-176378574-G-T | UIMC1 | c.1344C>A | p.Thr448Thr | Synonymous | 9/15 | - |
15-58318603-G-A | ALDH1A2 | c.55-12124C>T | - | IntronicSNV | - | 2/13 |
5-10437834-C-T | MARCH6 | c.*4038C>T | - | 3-UTRSNV | 26/26 | - |
15-65998702-T-C | DENND4A | c.1954-140A>G | - | IntronicSNV | - | 14/31 |
6-33662295-G-A | ITPR3 | c.7786-406G>A | - | IntronicSNV | - | 56/57 |
11-3029089-G-A | CARS | c.1820-900C>T | - | IntronicSNV | - | 17/21 |
10-114762237-G-A | TCF7L2 | c.382-37547G>A | - | IntronicSNV | - | 3/13 |
11-69457293-C-T | CCND1 | c.199-506C>T | - | IntronicSNV | - | 1/4 |
2-219146868-T-C | TMBIM1 | c.1-4A>G | - | 5-UTRSNV | 2/12 | - |
15-42032383-C-G | MGA | c.4567C>G | p.Pro1523Ala | Missense | 14/24 | - |
6-31731881-C-G | SAPCD1 | c.296C>G | p.Pro99Arg | Missense | 3/5 | - |
11-2968809-A-G | NAP1L4 | c.*1680T>C | - | IntronicSNV | - | 15/15 |
6-29912451-C-G | HLA-A | c.1012+58C>G | - | IntronicSNV | - | 5/7 |
11-5472735-T-G | OR51B5 | c.-360+54064A>C | - | intron_variant | - | 1/4 |
5-112229903-G-C | REEP5 | c.352-7023C>G | - | IntronicSNV | - | 3/4 |
2-71559107-T-G | ZNF638 | c.-203+102T>G | - | intron_variant | - | 1/27 |
11-77925759-A-C | USP35 | c.*900A>C | - | IntergenicSNV | 11/11 | - |
12-109994870-A-T | MMAB | c.716T>A | p.Met239Lys | Missense | 9/9 | - |
1-156713558-G-A | HDGF | c.602C>T | p.Pro201Leu | Missense | 5/6 | - |
1-156713558-G-C | HDGF | c.602C>G | p.Pro201Arg | Missense | 5/6 | - |
12-122625992-A-G | MLXIP | c.2639-246A>G | - | intron_variant | - | 16/16 |
16-1838836-C-A | NUBP2 | c.*121C>A | - | 3-UTRSNV | 7/7 | - |
22-22131125-T-G | MAPK1 | c.857-3854A>C | - | IntronicSNV | - | 6/8 |
21-40663181-G-A | BRWD1 | c.831+2556C>T | - | IntronicSNV | - | 8/40 |
21-40663181-G-C | BRWD1 | c.831+2556C>G | - | IntronicSNV | - | 8/40 |
12-62785524-T-C | USP15 | c.2147-72T>C | - | IntronicSNV | - | 15/20 |
6-33689520-C-T | IP6K3 | c.*977G>A | - | 3-UTRSNV | 6/6 | - |
11-108106782-C-T | ATM | c.496+221C>T | - | IntronicSNV | - | 5/62 |
11-108106782-C-A | ATM | c.496+221C>A | - | IntronicSNV | - | 5/62 |
2-112778389-C-T | MERTK | c.2190-610C>T | - | IntronicSNV | - | 16/18 |
7-128884057-A-T | AHCYL2 | c.363+18777A>T | - | IntronicSNV | - | 1/16 |
6-47453378-G-C | CD2AP | c.4+7394G>C | - | IntronicSNV | - | 1/17 |
6-31597875-A-C | PRRC2A | c.2254+253A>C | - | IntronicSNV | - | 14/30 |
6-31597875-A-G | PRRC2A | c.2254+253A>G | - | IntronicSNV | - | 14/30 |
4-1740675-G-A | TACC3 | c.1942-754G>A | - | IntronicSNV | - | 10/15 |
5-131665378-A-G | SLC22A4 | c.952-2071A>G | - | IntronicSNV | - | 5/9 |
17-7468509-G-A | SENP3 | c.1067+122G>A | - | IntronicSNV | - | 4/11 |
17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
4-17939302-T-C | LCORL | c.430+24224A>G | - | IntronicSNV | - | 4/6 |
11-5472768-C-T | OR51B5 | c.-360+54031G>A | - | intron_variant | - | 1/4 |
12-76449900-T-C | NAP1L1 | c.471A>G | p.Lys157Lys | Synonymous | 7/16 | - |
12-6440009-T-C | TNFRSF1A | c.625+10A>G | - | IntronicSNV | - | 6/9 |
11-95991923-C-G | MAML2 | c.513+82624G>C | - | IntronicSNV | - | 1/4 |
11-95991923-C-T | MAML2 | c.513+82624G>A | - | IntronicSNV | - | 1/4 |
12-107367224-T-C | TMEM263 | c.*2055T>C | - | 3-UTRSNV | 4/4 | - |
12-107367224-T-A | TMEM263 | c.*2055T>A | - | 3-UTRSNV | 4/4 | - |
7-128993756-T-G | AHCYL2 | c.364-25726T>G | - | IntronicSNV | - | 1/16 |
1-169498975-T-C | F5 | c.5290A>G | p.Met1764Val | Missense | 16/25 | - |
1-2187085-T-C | SKI | c.969+25911T>C | - | IntronicSNV | - | 1/6 |
1-2187085-T-A | SKI | c.969+25911T>A | - | IntronicSNV | - | 1/6 |
3-49701983-G-A | BSN | c.11736G>A | p.Thr3912Thr | Synonymous | 9/12 | - |
2-112770770-A-G | MERTK | c.2079+3127A>G | - | IntronicSNV | - | 15/18 |
2-242260340-G-A | SEPT2 | c.1-3308G>A | - | IntronicSNV | - | 1/12 |
5-131661156-T-A | SLC22A4 | c.825-1814T>A | - | IntronicSNV | - | 4/9 |
6-31378387-T-C | MICA | c.138T>C | p.Leu46Leu | Synonymous | 2/6 | - |
6-31378387-T-A | MICA | c.138T>A | p.Leu46Leu | Synonymous | 2/6 | - |
17-56736598-G-C | TEX14 | c.1-7236C>G | - | IntronicSNV | - | 1/32 |
2-152266731-T-A | RIF1 | c.-11+184T>A | - | intron_variant | - | 1/34 |
1-51221165-G-A | FAF1 | c.368-10718C>T | - | IntronicSNV | - | 4/18 |
2-152266731-T-G | RIF1 | c.-11+184T>G | - | intron_variant | - | 1/34 |
7-6449272-A-G | DAGLB | c.*196T>C | - | 3-UTRSNV | 15/15 | - |
12-94127931-C-T | CRADD | c.298+55083C>T | - | IntronicSNV | - | 2/2 |
10-114746580-C-A | TCF7L2 | c.381+35214C>A | - | IntronicSNV | - | 3/13 |
10-114746580-C-G | TCF7L2 | c.381+35214C>G | - | IntronicSNV | - | 3/13 |
2-215653887-T-C | BARD1 | c.364+3134A>G | - | IntronicSNV | - | 3/10 |
2-215653887-T-A | BARD1 | c.364+3134A>T | - | IntronicSNV | - | 3/10 |
8-116597409-T-A | TRPS1 | c.2700+1819A>T | - | IntronicSNV | - | 5/6 |
2-135713703-G-A | CCNT2 | c.*1485G>A | - | 3-UTRSNV | 9/9 | - |
2-135713703-G-C | CCNT2 | c.*1485G>C | - | 3-UTRSNV | 9/9 | - |
8-52757093-G-A | PCMTD1 | c.410+1128C>T | - | IntronicSNV | - | 3/5 |
2-219095554-G-A | ARPC2 | c.222+1981G>A | - | IntronicSNV | - | 3/9 |
3-52815905-T-C | ITIH1 | c.688-51T>C | - | IntronicSNV | - | 6/21 |
1-110040310-A-G | CYB561D1 | c.*1429A>G | - | 3-UTRSNV | 3/3 | - |
12-122619261-G-T | MLXIP | c.1733-510G>T | - | intron_variant | - | 9/16 |
6-34827085-A-G | UHRF1BP1 | c.2952A>G | p.Gln984Gln | Synonymous | 14/21 | - |
4-74311433-C-A | AFP | c.843+594C>A | - | IntronicSNV | - | 7/14 |
15-75321139-T-A | PPCDC | c.135+345T>A | - | IntronicSNV | - | 2/5 |
15-75321139-T-C | PPCDC | c.135+345T>C | - | IntronicSNV | - | 2/5 |
9-37983657-C-G | SHB | c.839-8823G>C | - | IntronicSNV | - | 2/5 |
1-169525808-G-A | F5 | c.952+76C>T | - | IntronicSNV | - | 6/24 |
15-67442596-C-T | SMAD3 | c.207-14637C>T | - | IntronicSNV | - | 1/8 |
5-137772296-G-C | KDM3B | c.*907G>C | - | 3-UTRSNV | 24/24 | - |
10-81110417-G-A | PPIF | c.316-826G>A | - | IntronicSNV | - | 3/5 |
1-169540080-C-T | F5 | c.373+1379G>A | - | IntronicSNV | - | 3/24 |
12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
9-37983657-C-T | SHB | c.839-8823G>A | - | IntronicSNV | - | 2/5 |
13-25010567-C-T | PARP4 | c.3667-955G>A | - | IntronicSNV | - | 30/33 |
11-27516785-C-T | LIN7C | c.*3411G>A | - | 3-UTRSNV | 5/5 | - |
17-80151805-T-C | CCDC57 | c.776+53A>G | - | IntronicSNV | - | 5/16 |
2-219613249-G-A | TTLL4 | c.2501+299G>A | - | IntronicSNV | - | 12/19 |
5-1337070-T-C | CLPTM1L | c.678+949A>G | - | IntronicSNV | - | 5/16 |
17-53365172-A-G | HLF | c.451+19725A>G | - | IntronicSNV | - | 2/3 |
1-90102619-G-A | LRRC8C | c.-5+3738G>A | - | intron_variant | - | 1/2 |
8-144671956-G-T | EEF1D | c.296C>A | p.Ala99Glu | Missense | 3/10 | - |
8-144671956-G-A | EEF1D | c.296C>T | p.Ala99Val | Missense | 3/10 | - |
5-110428781-T-C | WDR36 | c.330+465T>C | - | IntronicSNV | - | 1/22 |
16-630665-G-A | PIGQ | c.1417-193G>A | - | IntronicSNV | - | 8/10 |
1-8440132-G-A | RERE | c.1285-14098C>T | - | IntronicSNV | - | 12/22 |
16-67764626-G-T | RANBP10 | c.890-677C>A | - | IntronicSNV | - | 7/13 |
12-109994870-A-G | MMAB | c.716T>C | p.Met239Thr | Missense | 9/9 | - |
15-89860786-A-C | POLG | c.3483-19T>G | - | IntronicSNV | - | 21/22 |
21-40652142-G-A | BRWD1 | c.864C>T | p.Tyr288Tyr | Synonymous | 9/41 | - |
5-95222277-C-T | ELL2 | c.*2298G>A | - | 3-UTRSNV | 12/12 | - |
7-2801803-C-T | GNA12 | c.526-28668G>A | - | IntronicSNV | - | 2/3 |
7-89977760-A-G | GTPBP10 | c.33+1672A>G | - | IntronicSNV | - | 1/9 |
11-17409572-T-A | KCNJ11 | c.67A>T | p.Lys23* | Nonsense | 1/1 | - |
1-183112566-T-C | LAMC1 | c.*641T>C | - | 3-UTRSNV | 28/28 | - |
1-182993025-C-T | LAMC1 | c.174C>T | p.Ala58Ala | Synonymous | 1/28 | - |
21-40680736-A-G | BRWD1 | c.198+4031T>C | - | IntronicSNV | - | 4/40 |
5-179156782-G-T | CANX | c.*1137G>T | - | 3-UTRSNV | 15/15 | - |
7-73026378-C-T | MLXIPL | c.400+4023G>A | - | IntronicSNV | - | 2/16 |
3-99583484-C-T | FILIP1L | c.-116+11432G>A | - | intron_variant | - | 1/1 |
19-13039284-A-G | FARSA | c.726-13T>C | - | IntronicSNV | - | 6/12 |
7-73026378-C-A | MLXIPL | c.400+4023G>T | - | IntronicSNV | - | 2/16 |
10-124180766-C-T | PLEKHA1 | c.682-2949C>T | - | IntronicSNV | - | 8/11 |
2-201171207-G-A | SPATS2L | c.-73+324G>A | - | intron_variant | - | 1/12 |
6-31917540-T-C | CFB | c.1408+206T>C | - | IntronicSNV | - | 10/17 |
2-201171207-G-C | SPATS2L | c.-73+324G>C | - | intron_variant | - | 1/12 |
2-69741801-C-G | AAK1 | c.1578G>C | p.Gln526His | Missense | 13/22 | - |
12-107367225-T-C | TMEM263 | c.*2056T>C | - | 3-UTRSNV | 4/4 | - |
2-69741801-C-T | AAK1 | c.1578G>A | p.Gln526Gln | Synonymous | 13/22 | - |
16-675680-T-C | RAB40C | c.342+171T>C | - | IntronicSNV | - | 4/5 |
6-41528214-G-A | FOXP4 | c.1-5285G>A | - | IntronicSNV | - | 1/16 |
5-179135815-C-A | CANX | c.447-164C>A | - | IntronicSNV | - | 5/14 |
17-65898809-G-A | BPTF | c.2922-1096G>A | - | IntronicSNV | - | 9/29 |
1-214814571-C-T | CENPF | c.2890C>T | p.Leu964Leu | Synonymous | 12/20 | - |
1-214814571-C-G | CENPF | c.2890C>G | p.Leu964Val | Missense | 12/20 | - |
3-65529435-G-C | MAGI1 | c.431-50129C>G | - | IntronicSNV | - | 2/22 |
12-46347124-G-A | SCAF11 | c.220-1614C>T | - | IntronicSNV | - | 3/14 |
3-65529435-G-T | MAGI1 | c.431-50129C>A | - | IntronicSNV | - | 2/22 |
15-62172907-T-A | VPS13C | c.9774A>T | p.Gln3258His | Missense | 71/83 | - |
15-62172907-T-C | VPS13C | c.9774A>G | p.Gln3258Gln | Synonymous | 71/83 | - |
1-158585355-T-C | SPTA1 | c.6601-162A>G | - | IntronicSNV | - | 47/51 |
1-89236029-T-A | PKN2 | c.505-6T>A | - | IntronicSNV | - | 3/21 |
2-48103221-A-G | FBXO11 | c.-21+12544T>C | - | intron_variant | - | 1/22 |
12-120162199-G-A | CIT | c.3466-2945C>T | - | IntronicSNV | - | 27/46 |
3-30687969-T-C | TGFBR2 | c.338+1562T>C | - | IntronicSNV | - | 3/7 |
3-30687969-T-A | TGFBR2 | c.338+1562T>A | - | IntronicSNV | - | 3/7 |
1-237048500-A-G | MTR | c.2756A>G | p.Asp919Gly | Missense | 26/33 | - |
3-99543764-A-G | CMSS1 | c.64+6877A>G | - | IntronicSNV | - | 1/9 |
1-155947875-A-T | ARHGEF2 | c.-36T>A | - | 5_prime_UTR_variant | 1/22 | - |
21-40627325-C-T | BRWD1 | c.2255+246G>A | - | IntronicSNV | - | 19/40 |
2-112665201-C-T | MERTK | c.61+8828C>T | - | IntronicSNV | - | 1/18 |
8-8890098-C-T | ERI1 | c.*2554C>T | - | 3-UTRSNV | 7/7 | - |
12-133345809-C-T | GOLGA3 | c.*3882G>A | - | 3-UTRSNV | 24/24 | - |
12-122626842-G-A | MLXIP | c.*483G>A | - | 3_prime_UTR_variant | 17/17 | - |
2-27424636-G-A | SLC5A6 | c.1442C>T | p.Ser481Phe | Missense | 14/17 | - |
12-56825311-C-G | TIMELESS | c.765G>C | p.Val255Val | Synonymous | 8/29 | - |
21-40664321-T-C | BRWD1 | c.831+1416A>G | - | IntronicSNV | - | 8/40 |
8-28756738-G-A | HMBOX1 | c.-58+7431G>A | - | intron_variant | - | 2/10 |
6-34824636-A-G | UHRF1BP1 | c.1361A>G | p.Gln454Arg | Missense | 11/21 | - |
17-80136418-C-T | CCDC57 | c.1438G>A | p.Val480Met | Missense | 10/17 | - |
1-158582552-G-A | SPTA1 | c.7134+55C>T | - | IntronicSNV | - | 51/51 |
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 | - |
1-204516025-A-G | MDM4 | c.903+20A>G | - | IntronicSNV | - | 10/10 |
10-81114813-C-A | PPIF | c.*1215C>A | - | 3-UTRSNV | 6/6 | - |
1-19718824-G-A | CAPZB | c.94-6704C>T | - | IntronicSNV | - | 2/9 |
1-237048676-G-T | MTR | c.2775+157G>T | - | IntronicSNV | - | 26/32 |
6-11040423-A-G | ELOVL2 | c.3+4038T>C | - | IntronicSNV | - | 1/7 |
10-73772661-T-A | CHST3 | c.*4432T>A | - | 3-UTRSNV | 3/3 | - |
8-8890098-C-A | ERI1 | c.*2554C>A | - | 3-UTRSNV | 7/7 | - |
2-43711925-A-C | THADA | c.3836+448T>G | - | IntronicSNV | - | 26/37 |
2-43711925-A-G | THADA | c.3836+448T>C | - | IntronicSNV | - | 26/37 |
12-76476956-A-G | NAP1L1 | c.-21+1391T>C | - | intron_variant | - | 1/15 |
12-56825311-C-T | TIMELESS | c.765G>A | p.Val255Val | Synonymous | 8/29 | - |
21-34943200-A-C | SON | c.6885+1807A>C | - | IntronicSNV | - | 8/11 |
21-40560262-T-C | BRWD1 | c.*7923A>G | - | 3-UTRSNV | 41/41 | - |
15-58296450-T-A | ALDH1A2 | c.430+6397A>T | - | IntronicSNV | - | 5/13 |
1-23710475-C-T | TCEA3 | c.1038+364G>A | - | IntronicSNV | - | 10/10 |
3-136235908-T-C | STAG1 | c.676+4147A>G | - | IntronicSNV | - | 7/33 |
17-74443683-C-T | UBE2O | c.417+5124G>A | - | IntronicSNV | - | 1/17 |
11-108283161-C-A | C11orf65 | c.175-5285G>T | - | IntronicSNV | - | 3/8 |
17-47131901-A-G | IGF2BP1 | c.*5095A>G | - | 3-UTRSNV | 15/15 | - |
20-62318220-T-C | RTEL1 | c.1421-771T>C | - | IntronicSNV | - | 16/34 |
6-31711124-C-T | MSH5 | c.415+177C>T | - | IntronicSNV | - | 5/24 |
5-96111371-G-A | ERAP1 | c.2818+737C>T | - | IntronicSNV | - | 19/19 |
1-85787118-G-C | DDAH1 | c.*17C>G | - | 3-UTRSNV | 7/7 | - |
12-120933946-T-G | DYNLL1 | c.-80T>G | - | 5_prime_UTR_variant | 1/3 | - |
4-74310844-A-G | AFP | c.843+5A>G | - | IntronicSNV | - | 7/14 |
2-43721508-C-T | THADA | c.3744+4464G>A | - | IntronicSNV | - | 25/37 |
15-41563950-A-G | CHP1 | c.411+1134A>G | - | IntronicSNV | - | 5/6 |
4-74310844-A-T | AFP | c.843+5A>T | - | IntronicSNV | - | 7/14 |
1-61616247-G-C | NFIA | c.559+61895G>C | - | IntronicSNV | - | 2/9 |
2-63195179-T-A | EHBP1 | c.2566-11144T>A | - | IntronicSNV | - | 15/24 |
1-61616247-G-A | NFIA | c.559+61895G>A | - | IntronicSNV | - | 2/9 |
1-90025519-C-A | LRRC8B | c.-241+924C>A | - | intron_variant | - | 4/8 |
2-63195179-T-C | EHBP1 | c.2566-11144T>C | - | IntronicSNV | - | 15/24 |
15-42121538-C-G | JMJD7 | c.64+1152C>G | - | IntronicSNV | - | 1/7 |
3-30708115-G-T | TGFBR2 | c.530-5015G>T | - | IntronicSNV | - | 4/7 |
17-20919703-C-A | USP22 | c.691-491G>T | - | IntronicSNV | - | 5/12 |
3-30708115-G-C | TGFBR2 | c.530-5015G>C | - | IntronicSNV | - | 4/7 |
3-30708115-G-A | TGFBR2 | c.530-5015G>A | - | IntronicSNV | - | 4/7 |
20-33971914-C-T | UQCC1 | c.152G>A | p.Arg51Gln | Missense | 3/10 | - |
1-169512093-A-G | F5 | c.2235T>C | p.Asn745Asn | Synonymous | 13/25 | - |
4-39118510-G-A | KLHL5 | c.2074+1560G>A | - | intron_variant | - | 11/11 |
3-122839876-G-T | PDIA5 | c.610-3037G>T | - | IntronicSNV | - | 8/16 |
3-122839876-G-A | PDIA5 | c.610-3037G>A | - | IntronicSNV | - | 8/16 |
2-3472138-T-C | TRAPPC12 | c.1776+2672T>C | - | IntronicSNV | - | 9/11 |
11-118915944-A-G | HYOU1 | c.*361T>C | - | 3-UTRSNV | 26/26 | - |
1-54683925-G-A | MRPL37 | c.*3G>A | - | 3-UTRSNV | 7/7 | - |
16-661335-T-C | RAB40C | c.143-5873T>C | - | IntronicSNV | - | 1/5 |
1-109926828-T-A | SORT1 | c.306+13381A>T | - | IntronicSNV | - | 1/19 |
1-109926828-T-C | SORT1 | c.306+13381A>G | - | IntronicSNV | - | 1/19 |
1-54673097-C-T | MRPL37 | c.646+2014C>T | - | IntronicSNV | - | 3/6 |
7-23482685-G-T | IGF2BP3 | c.237-24242C>A | - | IntronicSNV | - | 2/14 |
4-17944840-G-A | LCORL | c.430+18686C>T | - | IntronicSNV | - | 4/6 |
17-20904669-A-G | USP22 | c.*1675T>C | - | 3-UTRSNV | 13/13 | - |
2-61713526-C-A | XPO1 | c.2314-429G>T | - | IntronicSNV | - | 19/24 |
2-61713526-C-G | XPO1 | c.2314-429G>C | - | IntronicSNV | - | 19/24 |
2-63179076-G-A | EHBP1 | c.2421+2779G>A | - | IntronicSNV | - | 14/24 |
19-10794630-G-C | ILF3 | c.2055G>C | p.Ser685Ser | Synonymous | 17/18 | - |
19-10794630-G-A | ILF3 | c.2055G>A | p.Ser685Ser | Synonymous | 17/18 | - |
17-20935471-G-A | USP22 | c.172-3484C>T | - | IntronicSNV | - | 1/12 |
10-102265847-A-T | SEC31B | c.994T>A | p.Ser332Thr | Missense | 9/26 | - |
10-102265847-A-C | SEC31B | c.994T>G | p.Ser332Ala | Missense | 9/26 | - |
18-72174023-A-G | CNDP2 | c.367+777A>G | - | IntronicSNV | - | 4/11 |
7-75959188-G-A | YWHAG | c.450C>T | p.Ser150Ser | Synonymous | 2/2 | - |
8-30498859-T-A | SMIM18 | c.-111+2703T>A | - | intron_variant | - | 1/2 |
8-30498859-T-C | SMIM18 | c.-111+2703T>C | - | intron_variant | - | 1/2 |
19-19616742-G-A | GATAD2A | c.*459G>A | - | 3-UTRSNV | 12/12 | - |
7-2278226-C-T | MRM2 | c.298+827G>A | - | IntronicSNV | - | 2/2 |
16-69729446-A-G | NFAT5 | c.*172A>G | - | IntronicSNV | 16/16 | - |
7-1893311-C-G | MAD1L1 | c.1999-37447G>C | - | IntronicSNV | - | 18/18 |
17-47080431-G-T | IGF2BP1 | c.236+3900G>T | - | IntronicSNV | - | 2/14 |
1-162306415-T-A | NOS1AP | c.453+3500T>A | - | IntronicSNV | - | 5/9 |
1-162306415-T-G | NOS1AP | c.453+3500T>G | - | IntronicSNV | - | 5/9 |
19-1207238-G-T | STK11 | c.290+36G>T | - | IntronicSNV | - | 1/9 |
2-152267072-T-G | RIF1 | c.104+31T>G | - | IntronicSNV | - | 2/34 |
19-10794630-G-T | ILF3 | c.2055G>T | p.Ser685Ser | Synonymous | 17/18 | - |
15-75136257-A-C | SCAMP2 | c.*1167T>G | - | IntergenicSNV | 9/9 | - |
1-93298756-T-C | RPL5 | c.4-190T>C | - | IntronicSNV | - | 1/7 |
15-58276747-C-A | ALDH1A2 | c.735+8156G>T | - | IntronicSNV | - | 8/13 |
5-10372618-T-A | MARCH6 | c.20-5292T>A | - | IntronicSNV | - | 1/25 |
19-19616742-G-T | GATAD2A | c.*459G>T | - | 3-UTRSNV | 12/12 | - |
15-79237247-C-G | CTSH | c.77G>C | p.Cys26Ser | Missense | 1/12 | - |
2-27851918-G-A | GPN1 | c.-8G>A | - | 5_prime_UTR_variant | 1/14 | - |
17-64215571-G-A | APOH | c.604+1101C>T | - | IntronicSNV | - | 5/7 |
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 | - |
3-65486388-A-G | MAGI1 | c.431-7082T>C | - | IntronicSNV | - | 2/22 |
15-56532219-G-A | RFX7 | c.161+3104C>T | - | IntronicSNV | - | 2/9 |
12-122615515-C-T | MLXIP | c.1000+35C>T | - | intron_variant | - | 7/16 |
1-236179869-A-G | NID1 | c.2254+579T>C | - | IntronicSNV | - | 10/19 |
1-236179869-A-T | NID1 | c.2254+579T>A | - | IntronicSNV | - | 10/19 |
1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
8-121610438-G-A | SNTB1 | c.997-22973C>T | - | IntronicSNV | - | 3/6 |
4-17936634-T-C | LCORL | c.431-25666A>G | - | IntronicSNV | - | 4/6 |
1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
12-103248924-C-G | PAH | c.696G>C | p.Gln232His | Missense | 6/13 | - |
4-1240299-T-A | CTBP1 | c.40+2405A>T | - | IntronicSNV | - | 1/8 |
12-123665113-G-C | MPHOSPH9 | c.2290-576C>G | - | IntronicSNV | - | 14/23 |
6-34827085-A-T | UHRF1BP1 | c.2952A>T | p.Gln984His | Missense | 14/21 | - |
4-74279655-G-C | ALB | c.1058+304G>C | - | IntronicSNV | - | 8/14 |
5-56111751-G-C | MAP3K1 | c.351G>C | p.Ala117Ala | Synonymous | 1/20 | - |
17-57919031-A-T | VMP1 | c.*1759A>T | - | IntergenicSNV | 12/12 | - |
1-90112431-G-T | LRRC8C | c.-5+13550G>T | - | intron_variant | - | 1/2 |
16-81534790-T-C | CMIP | c.18+5691T>C | - | IntronicSNV | - | 1/20 |
12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
1-109935578-T-C | SORT1 | c.306+4631A>G | - | IntronicSNV | - | 1/19 |
1-114959540-G-A | TRIM33 | c.2061+4518C>T | - | IntronicSNV | - | 11/19 |
7-23482685-G-A | IGF2BP3 | c.237-24242C>T | - | IntronicSNV | - | 2/14 |
4-74285567-C-A | ALB | c.1785+211C>A | - | IntronicSNV | - | 13/14 |
15-42032383-C-T | MGA | c.4567C>T | p.Pro1523Ser | Missense | 14/24 | - |
5-75003678-T-C | POC5 | c.32A>G | p.His11Arg | Missense | 2/11 | - |
5-75003678-T-A | POC5 | c.32A>T | p.His11Leu | Missense | 2/11 | - |
16-585021-T-G | CAPN15 | c.-136-1008T>G | - | intron_variant | - | 2/13 |
19-1056492-G-C | ABCA7 | c.4580G>C | p.Gly1527Ala | Missense | 33/47 | - |
6-167440128-C-T | FGFR1OP | c.988+25C>T | - | IntronicSNV | - | 10/12 |
3-56654834-C-G | CCDC66 | c.2659-726C>G | - | IntronicSNV | - | 17/17 |
1-90112431-G-A | LRRC8C | c.-5+13550G>A | - | intron_variant | - | 1/2 |
9-111866749-C-A | TMEM245 | c.799+2039G>T | - | IntronicSNV | - | 3/17 |
9-111866749-C-T | TMEM245 | c.799+2039G>A | - | IntronicSNV | - | 3/17 |
17-53239240-T-A | STXBP4 | c.*1968T>A | - | 3-UTRSNV | 18/18 | - |
1-29494019-C-T | SRSF4 | c.108-6990G>A | - | IntronicSNV | - | 1/5 |
21-40560678-T-G | BRWD1 | c.*7507A>C | - | 3-UTRSNV | 41/41 | - |
7-1890764-G-A | MAD1L1 | c.1999-34900C>T | - | IntronicSNV | - | 18/18 |
17-20940688-A-C | USP22 | c.171+5290T>G | - | IntronicSNV | - | 1/12 |
5-131677997-A-G | SLC22A4 | c.1581-1456A>G | - | IntronicSNV | - | 9/9 |
1-155880008-G-C | RIT1 | c.163+233C>G | - | IntronicSNV | - | 3/5 |
11-57507983-C-T | TMX2 | c.*266C>T | - | 3-UTRSNV | 8/8 | - |
15-42032383-C-A | MGA | c.4567C>A | p.Pro1523Thr | Missense | 14/24 | - |
17-80113322-T-G | CCDC57 | c.2241+2302A>C | - | IntronicSNV | - | 14/16 |
16-585021-T-C | CAPN15 | c.-136-1008T>C | - | intron_variant | - | 2/13 |
19-1056492-G-T | ABCA7 | c.4580G>T | p.Gly1527Val | Missense | 33/47 | - |
15-42820589-G-A | SNAP23 | c.396G>A | p.Thr132Thr | Synonymous | 6/8 | - |
3-47452118-G-C | PTPN23 | c.2830G>C | p.Ala944Pro | Missense | 20/25 | - |
17-65871598-G-A | BPTF | c.1865-74G>A | - | IntronicSNV | - | 4/29 |
3-47452118-G-A | PTPN23 | c.2830G>A | p.Ala944Thr | Missense | 20/25 | - |
7-99227172-A-G | ZSCAN25 | c.1164A>G | p.Glu388Glu | Synonymous | 8/8 | - |
12-53727955-G-A | SP7 | c.21+1455C>T | - | IntronicSNV | - | 2/2 |
11-64089216-C-G | PRDX5 | c.*53C>G | - | 3-UTRSNV | 5/5 | - |
12-123575742-A-G | PITPNM2 | c.-96+19190T>C | - | intron_variant | - | 1/24 |
6-31600820-A-T | PRRC2A | c.4319+51A>T | - | IntronicSNV | - | 16/30 |
3-50367867-A-C | RASSF1 | c.*145T>G | - | 3-UTRSNV | 5/5 | - |
16-11158885-G-C | CLEC16A | c.2116+4006G>C | - | IntronicSNV | - | 19/23 |
17-28349095-G-A | EFCAB5 | c.1045-12153G>A | - | IntronicSNV | - | 7/22 |
12-66343810-C-T | HMGA2 | c.250-1353C>T | - | IntronicSNV | - | 3/4 |
16-23864647-C-A | PRKCB | c.205+15920C>A | - | IntronicSNV | - | 2/16 |
12-110881935-C-T | ARPC3 | c.106+1322G>A | - | IntronicSNV | - | 2/6 |
5-96252803-G-A | ERAP2 | c.2740-363G>A | - | IntronicSNV | - | 18/18 |
21-47690068-C-T | MCM3AP | c.2628+247G>A | - | IntronicSNV | - | 9/27 |
11-77930345-T-C | GAB2 | c.2004A>G | p.Ser668Ser | Synonymous | 10/10 | - |
16-68246428-C-T | NFATC3 | c.3107-1804C>T | - | IntronicSNV | - | 9/10 |
2-11731774-T-G | GREB1 | c.1346-1128T>G | - | IntronicSNV | - | 10/32 |
3-50249500-G-A | SLC38A3 | c.1-2133G>A | - | IntronicSNV | - | 1/15 |
16-53196276-T-A | CHD9 | c.1452+4823T>A | - | IntronicSNV | - | 2/38 |
6-27775697-G-A | HIST1H2BL | c.1-13C>T | - | 5-UTRSNV | 1/1 | - |
6-27775697-G-C | HIST1H2BL | c.1-13C>G | - | 5-UTRSNV | 1/1 | - |
1-29371390-C-T | EPB41 | c.1009+5452C>T | - | IntronicSNV | - | 12/20 |
7-75986790-T-A | YWHAG | c.87+1249A>T | - | IntronicSNV | - | 1/1 |
1-145441620-T-C | TXNIP | c.*402T>C | - | 3-UTRSNV | 8/8 | - |
1-114999277-G-A | TRIM33 | c.923+6449C>T | - | IntronicSNV | - | 4/19 |
2-39981675-A-T | THUMPD2 | c.1078+760T>A | - | IntronicSNV | - | 8/9 |
6-167369897-C-A | RNASET2 | c.1-227G>T | - | 5-UTRSNV | 1/9 | - |
6-31600820-A-G | PRRC2A | c.4319+51A>G | - | IntronicSNV | - | 16/30 |
4-39124750-C-A | KLHL5 | c.*2064C>A | - | 3-UTRSNV | 12/12 | - |
1-150783985-T-C | ARNT | c.*512A>G | - | 3-UTRSNV | 21/21 | - |
2-96858914-A-C | STARD7 | c.661-16T>G | - | IntronicSNV | - | 4/7 |
2-96858914-A-G | STARD7 | c.661-16T>C | - | IntronicSNV | - | 4/7 |
2-27435943-G-A | ATRAID | c.1-177G>A | - | IntronicSNV | 1/7 | - |
2-27435943-G-C | ATRAID | c.1-177G>C | - | IntronicSNV | 1/7 | - |
9-37938387-C-G | SHB | c.1346+10245G>C | - | IntronicSNV | - | 5/5 |
2-99227812-C-T | UNC50 | c.401+454C>T | - | IntronicSNV | - | 3/5 |
15-42859235-T-G | HAUS2 | c.*221T>G | - | 3-UTRSNV | 6/6 | - |
1-214787130-G-T | CENPF | c.33G>T | p.Gly11Gly | Synonymous | 2/20 | - |
1-214787130-G-A | CENPF | c.33G>A | p.Gly11Gly | Synonymous | 2/20 | - |
6-31478515-G-A | MICB | c.*829G>A | - | 3-UTRSNV | 6/6 | - |
6-31616366-G-A | BAG6 | c.552+88C>T | - | IntronicSNV | - | 6/24 |
16-68120606-A-G | NFATC3 | c.103+919A>G | - | IntronicSNV | - | 1/10 |
2-39981675-A-C | THUMPD2 | c.1078+760T>G | - | IntronicSNV | - | 8/9 |
15-56533177-T-G | RFX7 | c.161+2146A>C | - | IntronicSNV | - | 2/9 |
15-56533177-T-A | RFX7 | c.161+2146A>T | - | IntronicSNV | - | 2/9 |
1-196710916-T-C | CFH | c.2957-89T>C | - | IntronicSNV | - | 18/21 |
4-17625658-A-G | MED28 | c.*237A>G | - | 3-UTRSNV | 4/4 | - |
1-2205581-C-A | SKI | c.970-28836C>A | - | IntronicSNV | - | 1/6 |
2-39993167-T-G | THUMPD2 | c.803+30A>C | - | IntronicSNV | - | 5/9 |
2-39993167-T-C | THUMPD2 | c.803+30A>G | - | IntronicSNV | - | 5/9 |
1-93306317-G-A | RPL5 | c.794+121G>A | - | IntronicSNV | - | 7/7 |
7-117832138-G-A | LSM8 | c.*82G>A | - | 3-UTRSNV | 4/4 | - |
2-198362018-T-C | HSPD1 | c.273A>G | p.Lys91Lys | Synonymous | 3/12 | - |
1-25169634-A-T | CLIC4 | c.*2206A>T | - | 3-UTRSNV | 6/6 | - |
3-52833219-G-A | ITIH3 | c.789+112G>A | - | IntronicSNV | - | 7/21 |
19-1423199-A-G | DAZAP1 | c.463+804A>G | - | IntronicSNV | - | 6/12 |
1-169512027-T-C | F5 | c.2301A>G | p.Ser767Ser | Synonymous | 13/25 | - |
12-103245802-A-G | PAH | c.843-268T>C | - | IntronicSNV | - | 7/12 |
8-145752467-A-T | C8orf82 | c.*259T>A | - | 3-UTRSNV | 3/3 | - |
2-242211554-G-A | HDLBP | c.-103+622C>T | - | intron_variant | - | 1/27 |
19-19616953-T-G | GATAD2A | c.*670T>G | - | 3-UTRSNV | 12/12 | - |
1-155106550-A-G | EFNA1 | c.*7A>G | - | 3-UTRSNV | 5/5 | - |
19-19616953-T-A | GATAD2A | c.*670T>A | - | 3-UTRSNV | 12/12 | - |
3-52833805-C-A | ITIH3 | c.943C>A | p.Gln315Lys | Missense | 9/22 | - |
2-215672546-G-C | BARD1 | c.158+1590C>G | - | IntronicSNV | - | 1/10 |
12-94120339-C-G | CRADD | c.298+47491C>G | - | IntronicSNV | - | 2/2 |
2-215672546-G-T | BARD1 | c.158+1590C>A | - | IntronicSNV | - | 1/10 |
2-220146402-C-T | DNAJB2 | c.176-38C>T | - | IntronicSNV | - | 3/9 |
3-114362764-C-T | ZBTB20 | c.-350+49611G>A | - | intron_variant | - | 5/9 |
17-39987130-T-C | NT5C3B | c.327A>G | p.Ala109Ala | Synonymous | 6/9 | - |
6-31238138-C-T | HLA-C | c.744G>A | p.Gln248Gln | Synonymous | 4/8 | - |
11-77925778-A-G | USP35 | c.*919A>G | - | IntergenicSNV | 11/11 | - |
3-30687030-T-C | TGFBR2 | c.338+623T>C | - | IntronicSNV | - | 3/7 |
3-30687030-T-G | TGFBR2 | c.338+623T>G | - | IntronicSNV | - | 3/7 |
4-74283521-C-T | ALB | c.1428+135C>T | - | IntronicSNV | - | 11/14 |
16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
8-52781904-T-A | PCMTD1 | c.1-8193A>T | - | IntronicSNV | - | 1/5 |
2-120518027-A-T | PTPN4 | c.-18+67A>T | - | intron_variant | - | 1/26 |
6-32019746-G-C | TNXB | c.9109+701C>G | - | IntronicSNV | - | 26/43 |
2-120518027-A-G | PTPN4 | c.-18+67A>G | - | intron_variant | - | 1/26 |
8-144676234-G-C | EEF1D | c.-132+3284C>G | - | intron_variant | - | 1/9 |
11-31501527-G-A | IMMP1L | c.-92-6194C>T | - | intron_variant | - | 1/6 |
20-21180259-C-T | KIZ | c.1353-5871C>T | - | IntronicSNV | - | 6/13 |
3-52824610-G-A | ITIH1 | c.2322-155G>A | - | IntronicSNV | - | 19/21 |
3-30686931-T-C | TGFBR2 | c.338+524T>C | - | IntronicSNV | - | 3/7 |
13-99157026-G-A | STK24 | c.309+14471C>T | - | IntronicSNV | - | 2/10 |
9-107591272-G-T | ABCA1 | c.2040C>A | p.Ile680Ile | Synonymous | 15/50 | - |
2-3476422-C-A | TRAPPC12 | c.1777-5044C>A | - | IntronicSNV | - | 9/11 |
4-17950626-A-G | LCORL | c.430+12900T>C | - | IntronicSNV | - | 4/6 |
11-126281897-G-A | ST3GAL4 | c.760-1503G>A | - | IntronicSNV | - | 9/10 |
2-216300482-T-A | FN1 | c.44A>T | p.Gln15Leu | Missense | 1/44 | - |
4-74302215-T-A | AFP | c.85+151T>A | - | IntronicSNV | - | 1/14 |
2-27729480-G-A | GCKR | c.968+34G>A | - | IntronicSNV | - | 11/18 |
10-114811316-T-C | TCF7L2 | c.483+11431T>C | - | IntronicSNV | - | 4/13 |
1-115039119-T-A | TRIM33 | c.526+14053A>T | - | IntronicSNV | - | 1/19 |
1-59153010-G-A | MYSM1 | c.399+1700C>T | - | IntronicSNV | - | 6/19 |
2-39977159-C-T | THUMPD2 | c.1078+5276G>A | - | IntronicSNV | - | 8/9 |
17-80115399-A-G | CCDC57 | c.2241+225T>C | - | IntronicSNV | - | 14/16 |
6-31864547-G-T | EHMT2 | c.164C>A | p.Thr55Asn | Missense | 3/28 | - |
21-40606414-G-A | BRWD1 | c.2767-1990C>T | - | IntronicSNV | - | 23/40 |
11-78095373-C-T | GAB2 | c.75+33319G>A | - | IntronicSNV | - | 1/9 |
11-78095373-C-A | GAB2 | c.75+33319G>T | - | IntronicSNV | - | 1/9 |
4-88973006-T-C | PKD2 | c.1549-137T>C | - | IntronicSNV | - | 6/14 |
2-219296545-G-A | VIL1 | c.1103-35G>A | - | IntronicSNV | - | 10/19 |
3-38527215-T-C | ACVR2B | c.*2392T>C | - | 3-UTRSNV | 11/11 | - |
3-30686931-T-G | TGFBR2 | c.338+524T>G | - | IntronicSNV | - | 3/7 |
7-100345106-G-A | ZAN | c.932-67G>A | - | IntronicSNV | - | 8/48 |
7-100345106-G-C | ZAN | c.932-67G>C | - | IntronicSNV | - | 8/48 |
2-99222916-C-T | COA5 | c.99+1854G>A | - | IntronicSNV | - | 1/2 |
7-117834770-G-A | LSM8 | c.*2714G>A | - | 3-UTRSNV | 4/4 | - |
21-40555160-C-G | PSMG1 | c.134+18G>C | - | IntronicSNV | - | 1/6 |
21-40555160-C-T | PSMG1 | c.134+18G>A | - | IntronicSNV | - | 1/6 |
16-633354-G-A | PIGQ | c.*319G>A | - | 3-UTRSNV | 11/11 | - |
15-99258710-A-G | IGF1R | c.640+7374A>G | - | IntronicSNV | - | 2/20 |
12-133348499-C-T | GOLGA3 | c.*1192G>A | - | 3-UTRSNV | 24/24 | - |
5-112242968-C-T | REEP5 | c.213-4753G>A | - | IntronicSNV | - | 2/4 |
1-196686918-G-A | CFH | c.1696+2019G>A | - | IntronicSNV | - | 11/21 |
15-42861567-A-G | HAUS2 | c.*2553A>G | - | 3-UTRSNV | 6/6 | - |
15-89810910-C-T | FANCI | c.756-720C>T | - | IntronicSNV | - | 9/36 |
3-50311898-C-T | SEMA3B | c.1238C>T | p.Pro413Leu | Missense | 13/19 | - |
7-73035857-T-C | MLXIPL | c.293+2673A>G | - | IntronicSNV | - | 1/16 |
7-92246744-C-G | CDK6 | c.834+642G>C | - | IntronicSNV | - | 7/7 |
15-59174539-G-T | SLTM | c.2996+1286C>A | - | IntronicSNV | - | 20/20 |
8-117767621-T-C | EIF3H | c.132+284A>G | - | IntronicSNV | - | 1/7 |
5-95256974-T-A | ELL2 | c.196-1725A>T | - | IntronicSNV | - | 2/11 |
10-114754088-T-C | TCF7L2 | c.381+42722T>C | - | IntronicSNV | - | 3/13 |
11-118959331-G-A | HMBS | c.88-14G>A | - | IntronicSNV | - | 2/13 |
11-65368323-G-A | MAP3K11 | c.1832-1084C>T | - | IntronicSNV | - | 8/9 |
3-30687023-G-C | TGFBR2 | c.338+616G>C | - | IntronicSNV | - | 3/7 |
20-34536055-A-G | PHF20 | c.*506A>G | - | 3-UTRSNV | 18/18 | - |
12-103248272-A-C | PAH | c.706+642T>G | - | IntronicSNV | - | 6/12 |
5-172196711-G-A | DUSP1 | c.600C>T | p.Ile200Ile | Synonymous | 3/4 | - |
12-103248272-A-T | PAH | c.706+642T>A | - | IntronicSNV | - | 6/12 |
12-103248272-A-G | PAH | c.706+642T>C | - | IntronicSNV | - | 6/12 |
1-158612548-T-C | SPTA1 | c.4605+56A>G | - | IntronicSNV | - | 32/51 |
1-158612548-T-A | SPTA1 | c.4605+56A>T | - | IntronicSNV | - | 32/51 |
9-102723692-C-T | STX17 | c.582+1255C>T | - | IntronicSNV | - | 6/7 |
17-80191348-C-T | SLC16A3 | c.1-2537C>T | - | IntronicSNV | - | 1/4 |
19-10401607-G-C | ICAM5 | c.83-141G>C | - | IntronicSNV | - | 1/10 |
4-17957576-C-T | LCORL | c.430+5950G>A | - | IntronicSNV | - | 4/6 |
6-31619576-A-G | BAG6 | c.1-36T>C | - | IntronicSNV | - | 1/24 |
11-2999507-G-C | NAP1L4 | c.73+7C>G | - | IntronicSNV | - | 3/15 |
11-2999507-G-T | NAP1L4 | c.73+7C>A | - | IntronicSNV | - | 3/15 |
1-169551682-T-C | F5 | c.237A>G | p.Gln79Gln | Synonymous | 2/25 | - |
1-90036747-G-A | LRRC8B | c.-125+2695G>A | - | intron_variant | - | 6/8 |
1-183086757-A-T | LAMC1 | c.1776A>T | p.Ala592Ala | Synonymous | 10/28 | - |
1-90117833-T-C | LRRC8C | c.-5+18952T>C | - | intron_variant | - | 1/2 |
13-33160705-C-A | PDS5B | c.-45C>A | - | 5_prime_UTR_variant | 1/35 | - |
8-145021167-C-A | PLEC | c.194-8307G>T | - | IntronicSNV | - | 2/32 |
20-33592763-C-T | TRPC4AP | c.1937-390G>A | - | IntronicSNV | - | 16/18 |
2-44701901-T-A | CAMKMT | c.376+84457T>A | - | IntronicSNV | - | 3/10 |
1-8424039-C-G | RERE | c.1740+77G>C | - | IntronicSNV | - | 15/22 |
7-75975586-C-T | YWHAG | c.87+12453G>A | - | IntronicSNV | - | 1/1 |
5-95246760-G-A | ELL2 | c.481+2715C>T | - | IntronicSNV | - | 4/11 |
19-41306362-G-C | EGLN2 | c.1-116G>C | - | 5-UTRSNV | 2/6 | - |
19-41306362-G-A | EGLN2 | c.1-116G>A | - | 5-UTRSNV | 2/6 | - |
7-117834049-A-G | LSM8 | c.*1993A>G | - | 3-UTRSNV | 4/4 | - |
2-219146803-G-A | TMBIM1 | c.62C>T | p.Pro21Leu | Missense | 2/12 | - |
8-116599199-T-C | TRPS1 | c.2700+29A>G | - | IntronicSNV | - | 5/6 |
2-61716924-G-C | XPO1 | c.2022+853C>G | - | IntronicSNV | - | 17/24 |
1-150658287-A-G | GOLPH3L | c.183+8845T>C | - | IntronicSNV | - | 2/4 |
16-28617057-G-A | SULT1A1 | c.*85C>T | - | 3-UTRSNV | 8/8 | - |
6-26184102-G-A | HIST1H2BE | c.79G>A | p.Gly27Ser | Missense | 1/1 | - |
10-104849468-G-C | NT5C2 | c.1647C>G | p.Asp549Glu | Missense | 19/19 | - |
10-104849468-G-A | NT5C2 | c.1647C>T | p.Asp549Asp | Synonymous | 19/19 | - |
7-150667210-C-A | KCNH2 | c.307+4589G>T | - | IntronicSNV | - | 2/14 |
11-108096141-A-G | ATM | c.1-2211A>G | - | IntronicSNV | - | 1/62 |
15-99271135-A-G | IGF1R | c.640+19799A>G | - | IntronicSNV | - | 2/20 |
14-32093548-G-A | NUBPL | c.382+24963G>A | - | IntronicSNV | - | 4/10 |
20-33592763-C-A | TRPC4AP | c.1937-390G>T | - | IntronicSNV | - | 16/18 |
1-11860458-C-G | MTHFR | c.476-79G>C | - | IntronicSNV | - | 3/11 |
6-167431910-G-T | FGFR1OP | c.580-3987G>T | - | IntronicSNV | - | 7/12 |
6-167431910-G-A | FGFR1OP | c.580-3987G>A | - | IntronicSNV | - | 7/12 |
7-75975586-C-G | YWHAG | c.87+12453G>C | - | IntronicSNV | - | 1/1 |
2-210880893-C-G | RPE | c.139-35C>G | - | IntronicSNV | - | 2/5 |
5-138949362-G-T | UBE2D2 | c.-64+7370G>T | - | intron_variant | - | 2/7 |
1-114973429-T-C | TRIM33 | c.1146A>G | p.Gln382Gln | Synonymous | 6/20 | - |
1-205683355-T-G | NUCKS1 | c.*4053A>C | - | 3-UTRSNV | 7/7 | - |
17-65876477-G-C | BPTF | c.2053+4617G>C | - | IntronicSNV | - | 5/29 |
8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
12-107350088-C-A | TMEM263 | c.-75+245C>A | - | intron_variant | - | 1/3 |
11-77931346-C-A | GAB2 | c.1887+19G>T | - | IntronicSNV | - | 9/9 |
11-77931346-C-G | GAB2 | c.1887+19G>C | - | IntronicSNV | - | 9/9 |
3-99573547-G-A | FILIP1L | c.1-3748C>T | - | IntronicSNV | - | 1/1 |
11-77931346-C-T | GAB2 | c.1887+19G>A | - | IntronicSNV | - | 9/9 |
1-109946882-T-C | PSMA5 | c.649-2170A>G | - | IntronicSNV | - | 8/8 |
1-158607935-T-G | SPTA1 | c.5077A>C | p.Lys1693Gln | Missense | 36/52 | - |
20-25260931-A-C | PYGB | c.1122A>C | p.Ala374Ala | Synonymous | 10/20 | - |
20-25260931-A-G | PYGB | c.1122A>G | p.Ala374Ala | Synonymous | 10/20 | - |
16-56974791-A-G | HERPUD1 | c.902+634A>G | - | IntronicSNV | - | 6/7 |
15-58253106-T-C | ALDH1A2 | c.1347-64A>G | - | IntronicSNV | - | 12/13 |
7-6431404-G-A | RAC1 | c.108-151G>A | - | IntronicSNV | - | 2/6 |
16-68304392-C-A | SLC7A6 | c.-37+3768C>A | - | intron_variant | - | 2/10 |
11-59837097-C-T | MS4A3 | c.195C>T | p.Thr65Thr | Synonymous | 4/5 | - |
11-66041079-G-A | RAB1B | c.279+1148G>A | - | IntronicSNV | - | 4/5 |
18-67283141-A-G | DOK6 | c.289+16407A>G | - | IntronicSNV | - | 3/7 |
12-50901882-T-C | DIP2B | c.100+2859T>C | - | IntronicSNV | - | 1/37 |
6-117923599-T-C | GOPC | c.1-148A>G | - | 5-UTRSNV | 1/9 | - |
2-219099484-T-C | ARPC2 | c.268+364T>C | - | IntronicSNV | - | 4/9 |
9-107586753-T-C | ABCA1 | c.2649A>G | p.Ile883Met | Missense | 18/50 | - |
11-63991801-T-C | TRPT1 | c.368A>G | p.His123Arg | Missense | 5/7 | - |
7-138175763-G-C | TRIM24 | c.365-13272G>C | - | IntronicSNV | - | 1/18 |
16-11969724-G-C | GSPT1 | c.1755C>G | p.Val585Val | Synonymous | 14/15 | - |
21-44488033-T-C | CBS | c.316+586A>G | - | IntronicSNV | - | 4/16 |
19-50909765-C-T | POLD1 | c.1485C>T | p.Thr495Thr | Synonymous | 12/27 | - |
7-103625877-T-C | RELN | c.226+3701A>G | - | IntronicSNV | - | 1/64 |
2-219650718-G-A | CYP27A1 | c.255+3558G>A | - | IntronicSNV | - | 1/8 |
6-29910986-G-T | HLA-A | c.344-59G>T | - | IntronicSNV | - | 2/7 |
6-29910986-G-A | HLA-A | c.344-59G>A | - | IntronicSNV | - | 2/7 |
3-49719729-G-A | APEH | c.1604-52G>A | - | IntronicSNV | - | 17/21 |
6-31378425-A-C | MICA | c.176A>C | p.Tyr59Ser | Missense | 2/6 | - |
17-27769598-G-A | TAOK1 | c.1-8969G>A | - | IntronicSNV | - | 1/19 |
17-41846468-C-T | DUSP3 | c.*509G>A | - | 3-UTRSNV | 3/3 | - |
1-162085685-G-T | NOS1AP | c.106-38510G>T | - | IntronicSNV | - | 1/9 |
2-219545309-T-C | STK36 | c.1137-17T>C | - | IntronicSNV | - | 9/26 |
8-22262418-A-G | SLC39A14 | c.195A>G | p.Leu65Leu | Synonymous | 2/9 | - |
12-124082240-C-T | TMED2 | c.*964C>T | - | 3-UTRSNV | 4/4 | - |
12-124082240-C-A | TMED2 | c.*964C>A | - | 3-UTRSNV | 4/4 | - |
12-124082240-C-G | TMED2 | c.*964C>G | - | 3-UTRSNV | 4/4 | - |
12-120933977-T-C | DYNLL1 | c.-49T>C | - | 5_prime_UTR_variant | 1/3 | - |
7-138175763-G-T | TRIM24 | c.365-13272G>T | - | IntronicSNV | - | 1/18 |
1-54303469-T-G | NDC1 | c.57+409A>C | - | IntronicSNV | - | 1/17 |
16-67471956-G-A | ATP6V0D1 | c.*475C>T | - | 3-UTRSNV | 8/8 | - |
18-21140432-T-C | NPC1 | c.644A>G | p.His215Arg | Missense | 6/25 | - |
21-47642016-C-T | LSS | c.429-127G>A | - | IntronicSNV | - | 4/22 |
22-22115004-C-G | MAPK1 | c.*3535G>C | - | 3_prime_UTR_variant | 9/9 | - |
6-31732059-T-C | SAPCD1 | c.368T>C | p.Leu123Pro | Missense | 4/5 | - |
7-107561155-T-C | DLD | c.*1451T>C | - | 3-UTRSNV | 14/14 | - |
7-105180384-C-T | RINT1 | c.274-2471C>T | - | IntronicSNV | - | 3/14 |
6-31914179-C-T | CFB | c.94C>T | p.Arg32Trp | Missense | 2/18 | - |
6-111695268-C-T | REV3L | c.4290G>A | p.Val1430Val | Synonymous | 14/33 | - |
4-1238246-G-A | CTBP1 | c.40+4458C>T | - | IntronicSNV | - | 1/8 |
4-1238246-G-C | CTBP1 | c.40+4458C>G | - | IntronicSNV | - | 1/8 |
6-31112484-C-T | CCHCR1 | c.1880G>A | p.Arg627Gln | Missense | 15/18 | - |
6-31914179-C-G | CFB | c.94C>G | p.Arg32Gly | Missense | 2/18 | - |
11-17394073-C-A | NCR3LG1 | c.*14C>A | - | 3-UTRSNV | 5/5 | - |
1-67681669-T-G | IL23R | c.799-3588T>G | - | IntronicSNV | - | 6/10 |
7-44579180-G-C | NPC1L1 | c.816C>G | p.Leu272Leu | Synonymous | 2/20 | - |
7-44579180-G-A | NPC1L1 | c.816C>T | p.Leu272Leu | Synonymous | 2/20 | - |
3-38446073-C-T | XYLB | c.1533+3597C>T | - | IntronicSNV | - | 18/18 |
16-31088625-A-G | ZNF646 | c.980A>G | p.Glu327Gly | Missense | 2/3 | - |
17-42225547-A-C | C17orf53 | c.376A>C | p.Thr126Pro | Missense | 3/10 | - |
11-6505524-G-A | TIMM10B | c.*2073G>A | - | 3-UTRSNV | 3/3 | - |
3-49721798-C-A | MST1 | c.1965G>T | p.Arg655Arg | Synonymous | 17/18 | - |
1-183112041-G-C | LAMC1 | c.*116G>C | - | 3-UTRSNV | 28/28 | - |
15-67466599-A-G | SMAD3 | c.658+3657A>G | - | IntronicSNV | - | 5/8 |
20-21146816-A-T | KIZ | c.1352+3016A>T | - | IntronicSNV | - | 6/13 |
20-21146816-A-C | KIZ | c.1352+3016A>C | - | IntronicSNV | - | 6/13 |
8-38130025-G-A | NSD3 | c.*3134C>T | - | IntergenicSNV | 24/24 | - |
1-1249187-G-C | INTS11 | c.882C>G | p.Phe294Leu | Missense | 9/17 | - |
2-112751928-G-A | MERTK | c.1397G>A | p.Arg466Lys | Missense | 9/19 | - |
2-112751928-G-C | MERTK | c.1397G>C | p.Arg466Thr | Missense | 9/19 | - |
2-242287487-T-G | SEPT2 | c.927-62T>G | - | IntronicSNV | - | 10/12 |
19-55538980-T-C | GP6 | c.576A>G | p.Ser192Ser | Synonymous | 4/8 | - |
1-110590816-C-T | STRIP1 | c.1661+325C>T | - | IntronicSNV | - | 15/20 |
21-40580003-C-T | BRWD1 | c.4198-1803G>A | - | IntronicSNV | - | 36/40 |
7-121031879-C-T | FAM3C | c.-42+4377G>A | - | intron_variant | - | 1/9 |
7-1912222-A-G | MAD1L1 | c.1998+25614T>C | - | IntronicSNV | - | 18/18 |
2-61729258-A-G | XPO1 | c.364-83T>C | - | IntronicSNV | - | 5/24 |
16-4015729-C-T | ADCY9 | c.*47G>A | - | 3-UTRSNV | 11/11 | - |
10-114773927-A-G | TCF7L2 | c.382-25857A>G | - | IntronicSNV | - | 3/13 |
20-47874005-A-T | ZNFX1 | c.2613T>A | p.His871Gln | Missense | 8/14 | - |
20-47874005-A-G | ZNFX1 | c.2613T>C | p.His871His | Synonymous | 8/14 | - |
7-92264410-T-C | CDK6 | c.648-12010A>G | - | IntronicSNV | - | 5/7 |
1-59137783-A-G | MYSM1 | c.1573-153T>C | - | IntronicSNV | - | 11/19 |
1-156169610-A-G | SLC25A44 | c.1-29A>G | - | IntronicSNV | - | 1/3 |
5-122737498-C-T | CEP120 | c.464-2520G>A | - | IntronicSNV | - | 5/20 |
15-89851580-G-A | FANCI | c.3471+677G>A | - | IntronicSNV | - | 33/36 |
16-68172490-A-G | NFATC3 | c.1401+11977A>G | - | IntronicSNV | - | 3/10 |
11-77937800-G-A | GAB2 | c.918C>T | p.Phe306Phe | Synonymous | 4/10 | - |
6-31378425-A-G | MICA | c.176A>G | p.Tyr59Cys | Missense | 2/6 | - |
11-68856680-G-A | TPCN2 | c.*1259G>A | - | 3-UTRSNV | 25/25 | - |
19-55538980-T-G | GP6 | c.576A>C | p.Ser192Ser | Synonymous | 4/8 | - |
3-30710140-G-C | TGFBR2 | c.530-2990G>C | - | IntronicSNV | - | 4/7 |
15-99264767-C-A | IGF1R | c.640+13431C>A | - | IntronicSNV | - | 2/20 |
6-10982973-T-C | ELOVL2 | c.*1041A>G | - | 3-UTRSNV | 8/8 | - |
12-46294908-G-C | ARID2 | c.5364-3809G>C | - | IntronicSNV | - | 20/20 |
21-47705237-T-A | MCM3AP | c.1-37A>T | - | IntergenicSNV | 1/28 | - |
19-10406431-T-G | ICAM5 | c.2497+143T>G | - | IntronicSNV | - | 10/10 |
11-57481155-G-A | TMX2 | c.189+876G>A | - | IntronicSNV | - | 1/7 |
6-30887972-C-T | VARS2 | c.1272C>T | p.Ser424Ser | Synonymous | 13/30 | - |
17-7478498-G-A | EIF4A1 | c.267G>A | p.Ser89Ser | Synonymous | 4/11 | - |
20-13123733-T-G | SPTLC3 | c.1280-10917T>G | - | IntronicSNV | - | 9/11 |
2-201185919-C-A | SPATS2L | c.-72-8235C>A | - | intron_variant | - | 1/12 |
16-31044897-G-A | STX4 | c.1-230G>A | - | 5-UTRSNV | 1/11 | - |
11-27516789-C-A | LIN7C | c.*3407G>T | - | 3-UTRSNV | 5/5 | - |
11-27516789-C-T | LIN7C | c.*3407G>A | - | 3-UTRSNV | 5/5 | - |
2-242439938-A-C | STK25 | c.318+217T>G | - | IntronicSNV | - | 4/11 |
16-23865170-T-C | PRKCB | c.205+16443T>C | - | IntronicSNV | - | 2/16 |
19-48374551-C-G | SULT2A1 | c.*161G>C | - | 3-UTRSNV | 6/6 | - |
19-48374551-C-A | SULT2A1 | c.*161G>T | - | 3-UTRSNV | 6/6 | - |
1-114996324-T-C | TRIM33 | c.923+9402A>G | - | IntronicSNV | - | 4/19 |
5-1342714-C-A | CLPTM1L | c.264-739G>T | - | IntronicSNV | - | 2/16 |
11-17408630-C-T | KCNJ11 | c.1009G>A | p.Val337Ile | Missense | 1/1 | - |
19-10395683-A-G | ICAM1 | c.1405A>G | p.Lys469Glu | Missense | 6/7 | - |
3-52721305-G-A | GNL3 | c.116G>A | p.Arg39Gln | Missense | 3/15 | - |
17-74414559-T-C | UBE2O | c.418-12905A>G | - | IntronicSNV | - | 1/17 |
12-66358347-C-T | HMGA2 | c.*1275C>T | - | 3-UTRSNV | 5/5 | - |
7-138230820-C-T | TRIM24 | c.1144-4988C>T | - | IntronicSNV | - | 7/18 |
8-30418605-A-G | RBPMS | c.*2139A>G | - | IntronicSNV | - | 8/8 |
7-128884057-A-G | AHCYL2 | c.363+18777A>G | - | IntronicSNV | - | 1/16 |
2-148716428-T-C | ORC4 | c.233A>G | p.Asn78Ser | Missense | 5/14 | - |
4-84374480-C-T | HELQ | c.916G>A | p.Val306Ile | Missense | 2/18 | - |
4-74304378-G-A | AFP | c.270+355G>A | - | IntronicSNV | - | 3/14 |
1-156279811-G-A | CCT3 | c.1533+538C>T | - | IntronicSNV | - | 13/13 |
1-90328122-G-A | LRRC8D | c.-3+18781G>A | - | intron_variant | - | 2/2 |
1-59158161-A-G | MYSM1 | c.218+372T>C | - | IntronicSNV | - | 3/19 |
3-30682947-T-C | TGFBR2 | c.170-3292T>C | - | IntronicSNV | - | 2/7 |
2-219609162-T-G | TTLL4 | c.1662-670T>G | - | IntronicSNV | - | 5/19 |
7-89977760-A-T | GTPBP10 | c.33+1672A>T | - | IntronicSNV | - | 1/9 |
2-39999341-G-A | THUMPD2 | c.127-561C>T | - | IntronicSNV | - | 1/9 |
6-29913298-A-T | HLA-A | c.*66A>T | - | 3-UTRSNV | 8/8 | - |
10-124165615-G-A | PLEKHA1 | c.245-477G>A | - | IntronicSNV | - | 4/11 |
5-1344458-G-T | CLPTM1L | c.263+8C>A | - | IntronicSNV | - | 2/16 |
16-53192331-T-C | CHD9 | c.1452+878T>C | - | IntronicSNV | - | 2/38 |
1-109884775-T-G | SORT1 | c.969A>C | p.Thr323Thr | Synonymous | 9/20 | - |
3-49453834-C-T | TCTA | c.*1539C>T | - | 3-UTRSNV | 3/3 | - |
12-103244013-G-T | PAH | c.912+1452C>A | - | IntronicSNV | - | 8/12 |
2-61740646-C-G | XPO1 | c.301+9100G>C | - | IntronicSNV | - | 4/24 |
2-61740646-C-A | XPO1 | c.301+9100G>T | - | IntronicSNV | - | 4/24 |
14-24615435-T-C | PSME2 | c.63A>G | p.Arg21Arg | Synonymous | 2/11 | - |
16-74695409-G-T | RFWD3 | c.1-62C>A | - | IntronicSNV | 1/13 | - |
16-30977799-G-C | SETD1A | c.2505+92G>C | - | IntronicSNV | - | 8/18 |
16-84802666-T-G | USP10 | c.2010+702T>G | - | IntronicSNV | - | 12/14 |
2-148716428-T-A | ORC4 | c.233A>T | p.Asn78Ile | Missense | 5/14 | - |
2-148716428-T-G | ORC4 | c.233A>C | p.Asn78Thr | Missense | 5/14 | - |
19-5832209-G-A | FUT6 | c.370C>T | p.Pro124Ser | Missense | 3/3 | - |
1-183114119-C-T | LAMC1 | c.*2194C>T | - | 3-UTRSNV | 28/28 | - |
20-13123733-T-C | SPTLC3 | c.1280-10917T>C | - | IntronicSNV | - | 9/11 |
1-155931368-G-A | ARHGEF2 | c.1384+84C>T | - | IntronicSNV | - | 11/21 |
1-155931368-G-C | ARHGEF2 | c.1384+84C>G | - | IntronicSNV | - | 11/21 |
11-64081445-G-A | ESRRA | c.348G>A | p.Pro116Pro | Synonymous | 3/7 | - |
1-55505732-A-G | PCSK9 | c.207+15A>G | - | IntronicSNV | - | 1/11 |
11-5471746-G-A | OR51B5 | c.-360+55053C>T | - | intron_variant | - | 1/4 |
1-109897103-A-C | SORT1 | c.594T>G | p.Phe198Leu | Missense | 5/20 | - |
8-109228008-A-T | EIF3E | c.951+633T>A | - | IntronicSNV | - | 9/12 |
17-80109806-C-T | CCDC57 | c.2241+5818G>A | - | IntronicSNV | - | 14/16 |
10-104748718-A-G | CNNM2 | c.1622-60746A>G | - | IntronicSNV | - | 1/7 |
2-174232622-C-T | CDCA7 | c.*230C>T | - | 3-UTRSNV | 10/10 | - |
5-95247634-A-C | ELL2 | c.481+1841T>G | - | IntronicSNV | - | 4/11 |
6-27775674-A-G | HIST1H2BL | c.11T>C | p.Leu4Pro | Missense | 1/1 | - |
20-25206654-A-G | ENTPD6 | c.*421A>G | - | 3-UTRSNV | 14/14 | - |
17-56709086-C-A | TEX14 | c.137-1171G>T | - | IntronicSNV | - | 2/32 |
6-29911092-G-C | HLA-A | c.391G>C | p.Gly131Arg | Missense | 3/8 | - |
17-56709086-C-T | TEX14 | c.137-1171G>A | - | IntronicSNV | - | 2/32 |
6-29911092-G-T | HLA-A | c.391G>T | p.Gly131Trp | Missense | 3/8 | - |
1-8658527-T-G | RERE | c.522+16093A>C | - | IntronicSNV | - | 4/22 |
4-74285239-C-T | ALB | c.1668C>T | p.Leu556Leu | Synonymous | 13/15 | - |
17-20904669-A-C | USP22 | c.*1675T>G | - | 3-UTRSNV | 13/13 | - |
5-150436503-G-C | TNIP1 | c.451C>G | p.Pro151Ala | Missense | 6/18 | - |
5-110434261-T-A | WDR36 | c.460-159T>A | - | IntronicSNV | - | 3/22 |
6-31122315-G-C | CCHCR1 | c.492C>G | p.Ser164Arg | Missense | 4/18 | - |
5-150436503-G-A | TNIP1 | c.451C>T | p.Pro151Ser | Missense | 6/18 | - |
1-183029070-T-G | LAMC1 | c.418+35801T>G | - | IntronicSNV | - | 1/27 |
1-183079509-C-T | LAMC1 | c.855-114C>T | - | IntronicSNV | - | 3/27 |
20-33590358-C-T | TRPC4AP | c.*591G>A | - | 3-UTRSNV | 19/19 | - |
17-56584508-T-A | MTMR4 | c.838A>T | p.Ser280Cys | Missense | 9/19 | - |
17-80113322-T-C | CCDC57 | c.2241+2302A>G | - | IntronicSNV | - | 14/16 |
12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
2-27801759-A-G | C2orf16 | c.2320A>G | p.Ile774Val | Missense | 1/1 | - |
17-80113322-T-A | CCDC57 | c.2241+2302A>T | - | IntronicSNV | - | 14/16 |
19-18304700-A-G | MPV17L2 | c.214A>G | p.Met72Val | Missense | 2/5 | - |
19-18304700-A-T | MPV17L2 | c.214A>T | p.Met72Leu | Missense | 2/5 | - |
6-41533579-C-T | FOXP4 | c.81C>T | p.Ala27Ala | Synonymous | 2/17 | - |
2-99149946-G-A | INPP4A | c.258G>A | p.Thr86Thr | Synonymous | 5/26 | - |
6-31928691-G-A | SKIV2L | c.545-127G>A | - | IntronicSNV | - | 6/27 |
2-216300185-C-T | FN1 | c.148+193G>A | - | IntronicSNV | - | 1/43 |
3-30710243-A-G | TGFBR2 | c.530-2887A>G | - | IntronicSNV | - | 4/7 |
4-89039082-A-G | ABCG2 | c.841+179T>C | - | IntronicSNV | - | 7/15 |
2-166897864-A-G | SCN1A | c.2259T>C | p.Val753Val | Synonymous | 16/29 | - |
3-38443320-G-A | XYLB | c.1533+844G>A | - | IntronicSNV | - | 18/18 |
3-38443320-G-C | XYLB | c.1533+844G>C | - | IntronicSNV | - | 18/18 |
2-166897864-A-T | SCN1A | c.2259T>A | p.Val753Val | Synonymous | 16/29 | - |
16-15129940-C-T | PDXDC1 | c.2175C>T | p.His725His | Synonymous | 23/23 | - |
2-27839369-T-C | ZNF512 | c.1296+178T>C | - | IntronicSNV | - | 12/13 |
2-219082330-A-G | ARPC2 | c.74+63A>G | - | IntronicSNV | - | 1/9 |
2-239360121-T-A | ASB1 | c.*4969T>A | - | 3-UTRSNV | 5/5 | - |
16-15129940-C-A | PDXDC1 | c.2175C>A | p.His725Gln | Missense | 23/23 | - |
1-26887592-T-C | RPS6KA1 | c.1398T>C | p.Tyr466Tyr | Synonymous | 16/22 | - |
5-95278679-G-A | ELL2 | c.195+27C>T | - | IntronicSNV | - | 2/11 |
3-52838402-T-C | ITIH3 | c.1865-340T>C | - | IntronicSNV | - | 14/21 |
11-65302893-G-A | SCYL1 | c.1386+40G>A | - | IntronicSNV | - | 10/17 |
4-17877487-A-G | LCORL | c.776+10204T>C | - | IntronicSNV | - | 6/6 |
20-25207074-T-C | ENTPD6 | c.*841T>C | - | 3-UTRSNV | 14/14 | - |
17-58024324-A-G | RPS6KB1 | c.*175A>G | - | 3-UTRSNV | 15/15 | - |
21-47644667-T-C | LSS | c.320-2015A>G | - | IntronicSNV | - | 3/22 |
16-31095171-C-T | ZNF646 | c.*758C>T | - | IntergenicSNV | 3/3 | - |
6-29911064-A-G | HLA-A | c.363A>G | p.Ile121Met | Missense | 3/8 | - |
5-115471298-A-G | COMMD10 | c.510+1423A>G | - | IntronicSNV | - | 5/6 |
1-85793746-G-A | DDAH1 | c.289-3180C>T | - | IntronicSNV | - | 5/6 |
9-111755008-C-T | CTNNAL1 | c.423G>A | p.Val141Val | Synonymous | 3/19 | - |
16-74670458-C-T | RFWD3 | c.1212G>A | p.Thr404Thr | Synonymous | 8/13 | - |
7-72856430-T-C | BAZ1B | c.*96A>G | - | IntronicSNV | - | 19/19 |
1-183093875-T-C | LAMC1 | c.2511T>C | p.Asn837Asn | Synonymous | 14/28 | - |
1-65816567-A-G | DNAJC6 | c.194-13751A>G | - | IntronicSNV | - | 1/18 |
1-183093875-T-A | LAMC1 | c.2511T>A | p.Asn837Lys | Missense | 14/28 | - |
1-183093875-T-G | LAMC1 | c.2511T>G | p.Asn837Lys | Missense | 14/28 | - |
1-67670916-G-A | IL23R | c.653-1677G>A | - | IntronicSNV | - | 5/10 |
12-112521448-G-A | NAA25 | c.403-2510C>T | - | IntronicSNV | - | 4/23 |
8-94715291-A-G | FAM92A | c.262-557A>G | - | IntronicSNV | - | 2/8 |
2-215672546-G-A | BARD1 | c.158+1590C>T | - | IntronicSNV | - | 1/10 |
1-64108771-T-C | PGM1 | c.1144+4300T>C | - | IntronicSNV | - | 7/10 |
12-66338202-G-T | HMGA2 | c.250-6961G>T | - | IntronicSNV | - | 3/4 |
6-76357426-C-T | SENP6 | c.480-21C>T | - | IntronicSNV | - | 6/23 |
15-75136257-A-T | SCAMP2 | c.*1167T>A | - | IntergenicSNV | 9/9 | - |
3-114362764-C-G | ZBTB20 | c.-350+49611G>C | - | intron_variant | - | 5/9 |
4-39116911-T-C | KLHL5 | c.2034T>C | p.Thr678Thr | Synonymous | 11/12 | - |
12-57133140-T-G | PRIM1 | c.990A>C | p.Ile330Ile | Synonymous | 10/13 | - |
20-33914208-A-G | UQCC1 | c.574-11640T>C | - | IntronicSNV | - | 7/9 |
12-56815281-T-C | TIMELESS | c.2726-4A>G | - | IntronicSNV | - | 22/28 |
7-72863249-T-G | BAZ1B | c.3728+623A>C | - | IntronicSNV | - | 15/19 |
2-63008414-T-C | EHBP1 | c.312+9887T>C | - | IntronicSNV | - | 5/24 |
2-215635794-T-C | BARD1 | c.1315-1758A>G | - | IntronicSNV | - | 4/10 |
1-65815659-C-T | DNAJC6 | c.194-14659C>T | - | IntronicSNV | - | 1/18 |
2-27715416-C-T | FNDC4 | c.670-71G>A | - | IntronicSNV | - | 6/6 |
2-63008414-T-A | EHBP1 | c.312+9887T>A | - | IntronicSNV | - | 5/24 |
20-48566065-A-C | RNF114 | c.621+173A>C | - | IntronicSNV | - | 5/5 |
7-2257612-G-A | MAD1L1 | c.663C>T | p.His221His | Synonymous | 7/19 | - |
1-29345027-T-G | EPB41 | c.497+73T>G | - | IntronicSNV | - | 8/20 |
16-31091209-T-A | ZNF646 | c.3564T>A | p.Thr1188Thr | Synonymous | 2/3 | - |
17-2145193-T-C | SMG6 | c.-2+2759A>G | - | intron_variant | - | 2/11 |
6-33659536-A-G | ITPR3 | c.7330+40A>G | - | IntronicSNV | - | 53/57 |
16-31091209-T-C | ZNF646 | c.3564T>C | p.Thr1188Thr | Synonymous | 2/3 | - |
16-67867739-G-T | CENPT | c.24C>A | p.Ser8Arg | Missense | 4/16 | - |
5-172196752-A-G | DUSP1 | c.559T>C | p.Tyr187His | Missense | 3/4 | - |
17-39987130-T-A | NT5C3B | c.327A>T | p.Ala109Ala | Synonymous | 6/9 | - |
16-88528780-T-C | ZFPM1 | c.40+8694T>C | - | IntronicSNV | - | 1/9 |
1-114448389-C-T | DCLRE1B | c.181C>T | p.His61Tyr | Missense | 1/4 | - |
1-26568542-T-C | CEP85 | c.56-2115T>C | - | IntronicSNV | - | 2/13 |
20-34023962-G-A | GDF5 | c.631+1116C>T | - | IntronicSNV | - | 1/1 |
4-1240299-T-G | CTBP1 | c.40+2405A>C | - | IntronicSNV | - | 1/8 |
11-46828799-A-T | CKAP5 | c.978+782T>A | - | IntronicSNV | - | 8/42 |
13-99131294-C-T | STK24 | c.366+3225G>A | - | IntronicSNV | - | 3/10 |
1-50937848-T-C | FAF1 | c.1869+3288A>G | - | IntronicSNV | - | 18/18 |
21-40682773-C-T | BRWD1 | c.198+1994G>A | - | IntronicSNV | - | 4/40 |
1-183112505-T-C | LAMC1 | c.*580T>C | - | 3-UTRSNV | 28/28 | - |
16-67984589-A-G | SLC12A4 | c.1422T>C | p.Gly474Gly | Synonymous | 11/24 | - |
1-114448389-C-G | DCLRE1B | c.181C>G | p.His61Asp | Missense | 1/4 | - |
15-89869329-G-C | POLG | c.1713-412C>G | - | IntronicSNV | - | 9/22 |
16-89713174-C-T | CHMP1A | c.382-52G>A | - | IntronicSNV | - | 5/6 |
4-17627856-G-A | MED28 | c.*2435G>A | - | IntergenicSNV | 4/4 | - |
2-43015719-T-C | HAAO | c.109A>G | p.Ile37Val | Missense | 2/10 | - |
15-58314679-G-A | ALDH1A2 | c.55-8200C>T | - | IntronicSNV | - | 2/13 |
4-74283521-C-A | ALB | c.1428+135C>A | - | IntronicSNV | - | 11/14 |
17-20918834-T-C | USP22 | c.838+231A>G | - | IntronicSNV | - | 6/12 |
17-20918834-T-A | USP22 | c.838+231A>T | - | IntronicSNV | - | 6/12 |
1-153848996-G-A | GATAD2B | c.-2+46213C>T | - | intron_variant | - | 1/10 |
7-123388474-A-G | WASL | c.117+198T>C | - | IntronicSNV | - | 1/10 |
6-117871836-G-A | DCBLD1 | c.1615+5076G>A | - | IntronicSNV | - | 14/14 |
7-72863249-T-C | BAZ1B | c.3728+623A>G | - | IntronicSNV | - | 15/19 |
16-71959748-C-T | IST1 | c.897+1028C>T | - | IntronicSNV | - | 9/9 |
1-109936682-G-A | SORT1 | c.306+3527C>T | - | IntronicSNV | - | 1/19 |
7-75978229-C-A | YWHAG | c.87+9810G>T | - | IntronicSNV | - | 1/1 |
4-39116911-T-G | KLHL5 | c.2034T>G | p.Thr678Thr | Synonymous | 11/12 | - |
3-48461313-C-G | PLXNB1 | c.2382G>C | p.Pro794Pro | Synonymous | 11/38 | - |
4-1236083-C-T | CTBP1 | c.41-3958G>A | - | IntronicSNV | - | 1/8 |
7-106763218-G-A | PRKAR2B | c.396+769G>A | - | IntronicSNV | - | 3/10 |
7-106763218-G-C | PRKAR2B | c.396+769G>C | - | IntronicSNV | - | 3/10 |
20-25281398-C-T | ABHD12 | c.1157+1457G>A | - | IntronicSNV | - | 12/12 |
7-72987354-C-T | TBL2 | c.599-54G>A | - | IntronicSNV | - | 4/6 |
6-31378965-G-C | MICA | c.442G>C | p.Glu148Gln | Missense | 3/6 | - |
6-7118990-A-T | RREB1 | c.-285+10697A>T | - | intron_variant | - | 1/11 |
6-7118990-A-G | RREB1 | c.-285+10697A>G | - | intron_variant | - | 1/11 |
16-28837203-T-G | ATXN2L | c.465+41T>G | - | IntronicSNV | - | 4/21 |
15-67450305-A-G | SMAD3 | c.207-6928A>G | - | IntronicSNV | - | 1/8 |
6-47580657-A-G | CD2AP | c.1878+385A>G | - | IntronicSNV | - | 17/17 |
3-65470507-A-G | MAGI1 | c.551-6034T>C | - | IntronicSNV | - | 3/22 |
11-3028140-G-A | CARS | c.1869C>T | p.Pro623Pro | Synonymous | 18/22 | - |
7-128415195-T-G | OPN1SW | c.366A>C | p.Gly122Gly | Synonymous | 2/5 | - |
5-96290647-C-T | LNPEP | c.19+18769C>T | - | IntronicSNV | - | 1/17 |
2-242269024-A-C | SEPT2 | c.130+3496A>C | - | IntronicSNV | - | 3/12 |
19-10766798-A-C | ILF3 | c.-91+1635A>C | - | intron_variant | - | 1/17 |
19-10766798-A-T | ILF3 | c.-91+1635A>T | - | intron_variant | - | 1/17 |
6-167442994-C-A | FGFR1OP | c.988+2891C>A | - | IntronicSNV | - | 10/12 |
5-112221869-C-T | REEP5 | c.520+843G>A | - | IntronicSNV | - | 4/4 |
7-72877166-T-C | BAZ1B | c.3249+86A>G | - | IntronicSNV | - | 12/19 |
20-32626107-G-A | RALY | c.-10+6697G>A | - | intron_variant | - | 2/8 |
18-67283041-A-C | DOK6 | c.289+16307A>C | - | IntronicSNV | - | 3/7 |
19-58770883-G-A | ZNF544 | c.245-1334G>A | - | IntronicSNV | - | 6/6 |
12-6450945-T-C | TNFRSF1A | c.36A>G | p.Pro12Pro | Synonymous | 1/10 | - |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
8-145744429-C-T | LRRC14 | c.1-681C>T | - | IntronicSNV | - | 1/3 |
12-122628516-A-T | MLXIP | c.*2157A>T | - | 3_prime_UTR_variant | 17/17 | - |
11-77927101-A-G | GAB2 | c.*3217T>C | - | 3-UTRSNV | 10/10 | - |
16-23864590-T-C | PRKCB | c.205+15863T>C | - | IntronicSNV | - | 2/16 |
4-155490832-C-T | FGB | c.1125C>T | p.Tyr375Tyr | Synonymous | 7/8 | - |
6-32135878-G-C | EGFL8 | c.*145G>C | - | 3-UTRSNV | 9/9 | - |
17-80112599-G-T | CCDC57 | c.2241+3025C>A | - | IntronicSNV | - | 14/16 |
17-38062196-G-A | GSDMB | c.865C>T | p.Pro289Ser | Missense | 6/8 | - |
6-7112819-A-G | RREB1 | c.-285+4526A>G | - | intron_variant | - | 1/11 |
17-80112599-G-C | CCDC57 | c.2241+3025C>G | - | IntronicSNV | - | 14/16 |
19-10818092-G-A | QTRT1 | c.530+36G>A | - | IntronicSNV | - | 4/9 |
20-62887339-T-G | PCMTD2 | c.-25+116T>G | - | intron_variant | - | 1/5 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
22-22157661-T-C | MAPK1 | c.492+2478A>G | - | IntronicSNV | - | 3/8 |
13-40258085-G-A | COG6 | c.788+1684G>A | - | IntronicSNV | - | 8/18 |
10-124192430-T-C | PLEKHA1 | c.*2976T>C | - | IntergenicSNV | 12/12 | - |
7-75616105-G-A | POR | c.*306G>A | - | 3-UTRSNV | 16/16 | - |
2-215644335-C-T | BARD1 | c.1314+949G>A | - | IntronicSNV | - | 4/10 |
2-215644335-C-G | BARD1 | c.1314+949G>C | - | IntronicSNV | - | 4/10 |
10-13375906-T-C | SEPHS1 | c.471A>G | p.Thr157Thr | Synonymous | 5/9 | - |
19-55526359-A-G | GP6 | c.954T>C | p.Ala318Ala | Synonymous | 8/8 | - |
1-93148377-C-T | EVI5 | c.1230-5602G>A | - | IntronicSNV | - | 9/17 |
19-55526359-A-T | GP6 | c.954T>A | p.Ala318Ala | Synonymous | 8/8 | - |
17-53034628-T-A | TOM1L1 | c.1371-3299T>A | - | IntronicSNV | - | 14/15 |
9-111801325-G-C | TMEM245 | c.2124-928C>G | - | IntronicSNV | - | 14/17 |
17-20940688-A-G | USP22 | c.171+5290T>C | - | IntronicSNV | - | 1/12 |
11-31527606-A-G | IMMP1L | c.-93+3460T>C | - | intron_variant | - | 1/6 |
16-28915527-G-A | ATP2A1 | c.*64G>A | - | 3_prime_UTR_variant | 23/23 | - |
16-28915527-G-T | ATP2A1 | c.*64G>T | - | 3_prime_UTR_variant | 23/23 | - |
6-30876152-C-T | GTF2H4 | c.-32C>T | - | 5_prime_UTR_variant | 1/14 | - |
5-56178217-A-C | MAP3K1 | c.3190A>C | p.Arg1064Arg | Synonymous | 14/20 | - |
1-61791863-G-A | NFIA | c.626-6321G>A | - | IntronicSNV | - | 3/9 |
17-28458105-A-G | NSRP1 | c.114+12914A>G | - | IntronicSNV | - | 2/6 |
8-30936356-G-T | WRN | c.840-2027G>T | - | IntronicSNV | - | 8/34 |
6-33660188-T-C | ITPR3 | c.7459-317T>C | - | IntronicSNV | - | 54/57 |
2-198631714-G-A | BOLL | c.481-387C>T | - | IntronicSNV | - | 6/10 |
3-30682939-G-T | TGFBR2 | c.170-3300G>T | - | IntronicSNV | - | 2/7 |
3-30682939-G-C | TGFBR2 | c.170-3300G>C | - | IntronicSNV | - | 2/7 |
1-115039119-T-C | TRIM33 | c.526+14053A>G | - | IntronicSNV | - | 1/19 |
20-21126723-A-G | KIZ | c.405+428A>G | - | IntronicSNV | - | 4/13 |
1-21410231-C-A | EIF4G3 | c.-196+27585G>T | - | intron_variant | - | 1/31 |
15-65998702-T-A | DENND4A | c.1954-140A>T | - | IntronicSNV | - | 14/31 |
6-33662295-G-C | ITPR3 | c.7786-406G>C | - | IntronicSNV | - | 56/57 |
11-68177510-C-T | LRP5 | c.2220C>T | p.Asn740Asn | Synonymous | 10/23 | - |
2-11724475-A-G | GREB1 | c.902-812A>G | - | IntronicSNV | - | 7/32 |
5-95282091-A-C | ELL2 | c.148-3338T>G | - | IntronicSNV | - | 1/11 |
21-40596085-G-A | BRWD1 | c.3382+249C>T | - | IntronicSNV | - | 29/40 |
6-31379823-C-G | MICA | c.713C>G | p.Thr238Ser | Missense | 4/6 | - |
6-31379823-C-A | MICA | c.713C>A | p.Thr238Asn | Missense | 4/6 | - |
7-105172685-G-C | RINT1 | c.1-78G>C | - | 5-UTRSNV | 1/15 | - |
12-124499542-G-A | ZNF664 | c.*2065G>A | - | 3-UTRSNV | 5/5 | - |
1-93303603-T-C | RPL5 | c.705+413T>C | - | IntronicSNV | - | 6/7 |
15-58318603-G-T | ALDH1A2 | c.55-12124C>A | - | IntronicSNV | - | 2/13 |
12-46294908-G-T | ARID2 | c.5364-3809G>T | - | IntronicSNV | - | 20/20 |
8-144657600-G-A | NAPRT | c.1284C>T | p.Gly428Gly | Synonymous | 10/13 | - |
3-99844293-G-A | CMSS1 | c.65-21524G>A | - | IntronicSNV | - | 1/9 |
5-148904092-A-T | CSNK1A1 | c.357+516T>A | - | IntronicSNV | - | 3/9 |
16-30995669-T-C | SETD1A | c.*325T>C | - | 3-UTRSNV | 19/19 | - |
15-89866286-G-A | POLG | c.2266-153C>T | - | IntronicSNV | - | 13/22 |
10-114812071-T-C | TCF7L2 | c.483+12186T>C | - | IntronicSNV | - | 4/13 |
1-156233189-C-T | SMG5 | c.2028G>A | p.Ala676Ala | Synonymous | 13/22 | - |
2-61629408-C-T | USP34 | c.552+3435G>A | - | IntronicSNV | - | 3/79 |
1-117100957-A-G | CD58 | c.70+12568T>C | - | IntronicSNV | - | 1/5 |
17-80191425-C-T | SLC16A3 | c.1-2460C>T | - | IntronicSNV | - | 1/4 |
1-196973183-T-C | CFHR5 | c.1331-608T>C | - | IntronicSNV | - | 8/9 |
7-103628036-C-T | RELN | c.226+1542G>A | - | IntronicSNV | - | 1/64 |
3-52566682-G-A | NT5DC2 | c.121+1867C>T | - | IntronicSNV | - | 1/13 |
1-59147926-T-C | MYSM1 | c.790A>G | p.Thr264Ala | Missense | 8/20 | - |
7-73017005-A-G | MLXIPL | c.902-2980T>C | - | IntronicSNV | - | 7/16 |
5-56178217-A-G | MAP3K1 | c.3190A>G | p.Arg1064Gly | Missense | 14/20 | - |
8-145021167-C-G | PLEC | c.194-8307G>C | - | IntronicSNV | - | 2/32 |
5-149210848-C-T | PPARGC1B | c.582+402C>T | - | IntronicSNV | - | 4/11 |
15-99259016-G-A | IGF1R | c.640+7680G>A | - | IntronicSNV | - | 2/20 |
16-28490517-T-C | CLN3 | c.1057-1319A>G | - | IntronicSNV | - | 13/14 |
4-170626552-T-C | CLCN3 | c.1669+1217T>C | - | IntronicSNV | - | 9/11 |
1-150727539-G-C | CTSS | c.337C>G | p.Arg113Gly | Missense | 4/8 | - |
1-169511734-T-C | F5 | c.2594A>G | p.His865Arg | Missense | 13/25 | - |
1-150727539-G-A | CTSS | c.337C>T | p.Arg113Trp | Missense | 4/8 | - |
1-59142713-T-C | MYSM1 | c.1275A>G | p.Pro425Pro | Synonymous | 9/20 | - |
16-87878822-G-A | SLC7A5 | c.665-4061C>T | - | IntronicSNV | - | 2/9 |
2-201171191-C-G | SPATS2L | c.-73+308C>G | - | intron_variant | - | 1/12 |
2-201171191-C-T | SPATS2L | c.-73+308C>T | - | intron_variant | - | 1/12 |
11-6520164-T-A | DNHD1 | c.719T>A | p.Val240Glu | Missense | 3/43 | - |
19-10765819-C-T | ILF3 | c.-91+656C>T | - | intron_variant | - | 1/17 |
2-61749690-C-T | XPO1 | c.301+56G>A | - | IntronicSNV | - | 4/24 |
6-31238234-G-A | HLA-C | c.648C>T | p.His216His | Synonymous | 4/8 | - |
12-103248301-T-C | PAH | c.706+613A>G | - | IntronicSNV | - | 6/12 |
2-61749690-C-A | XPO1 | c.301+56G>T | - | IntronicSNV | - | 4/24 |
6-31731881-C-T | SAPCD1 | c.296C>T | p.Pro99Leu | Missense | 3/5 | - |
3-48461313-C-T | PLXNB1 | c.2382G>A | p.Pro794Pro | Synonymous | 11/38 | - |
11-68201295-C-T | LRP5 | c.3989C>T | p.Ala1330Val | Missense | 18/23 | - |
5-115568757-T-C | COMMD10 | c.511-58457T>C | - | IntronicSNV | - | 5/6 |
2-219587291-A-G | TTLL4 | c.-177-4701A>G | - | intron_variant | - | 1/19 |
15-56532219-G-C | RFX7 | c.161+3104C>G | - | IntronicSNV | - | 2/9 |
20-62320242-G-A | RTEL1 | c.1873-166G>A | - | IntronicSNV | - | 21/34 |
2-152266473-T-C | RIF1 | c.-85T>C | - | 5_prime_UTR_variant | 1/35 | - |
2-3476234-T-A | TRAPPC12 | c.1777-5232T>A | - | IntronicSNV | - | 9/11 |
2-3476234-T-G | TRAPPC12 | c.1777-5232T>G | - | IntronicSNV | - | 9/11 |
20-47865784-C-T | ZNFX1 | c.3777G>A | p.Met1259Ile | Missense | 14/14 | - |
16-87878076-G-A | SLC7A5 | c.665-3315C>T | - | IntronicSNV | - | 2/9 |
16-87878076-G-C | SLC7A5 | c.665-3315C>G | - | IntronicSNV | - | 2/9 |
20-25433821-A-T | NINL | c.*266T>A | - | 3-UTRSNV | 24/24 | - |
20-25433821-A-C | NINL | c.*266T>G | - | 3-UTRSNV | 24/24 | - |
20-47865784-C-A | ZNFX1 | c.3777G>T | p.Met1259Ile | Missense | 14/14 | - |
20-33590358-C-G | TRPC4AP | c.*591G>C | - | 3-UTRSNV | 19/19 | - |
6-5260936-A-G | LYRM4 | c.31T>C | p.Ser11Pro | Missense | 1/3 | - |
2-71633275-T-C | ZNF638 | c.3018T>C | p.Ile1006Ile | Synonymous | 19/28 | - |
3-52566820-C-A | NT5DC2 | c.121+1729G>T | - | IntronicSNV | - | 1/13 |
4-39122697-C-T | KLHL5 | c.*11C>T | - | 3-UTRSNV | 12/12 | - |
9-100696203-T-C | HEMGN | c.173+2250A>G | - | IntronicSNV | - | 2/3 |
4-74279655-G-A | ALB | c.1058+304G>A | - | IntronicSNV | - | 8/14 |
6-29912451-C-T | HLA-A | c.1012+58C>T | - | IntronicSNV | - | 5/7 |
10-46087283-A-G | MARCH8 | c.-79+2400T>C | - | intron_variant | - | 1/6 |
7-120969769-G-A | WNT16 | c.244G>A | p.Gly82Arg | Missense | 2/4 | - |
7-120969769-G-T | WNT16 | c.244G>T | p.Gly82Trp | Missense | 2/4 | - |
16-67708897-A-G | GFOD2 | c.*161T>C | - | 3-UTRSNV | 3/3 | - |
2-219610433-A-G | TTLL4 | c.1806A>G | p.Glu602Glu | Synonymous | 7/20 | - |
10-114781698-T-C | TCF7L2 | c.382-18086T>C | - | IntronicSNV | - | 3/13 |
1-54320337-A-G | YIPF1 | c.*9-2394T>C | - | intron_variant | - | 10/10 |
5-95273410-T-A | ELL2 | c.195+5296A>T | - | IntronicSNV | - | 2/11 |
1-236175339-T-C | NID1 | c.2409A>G | p.Val803Val | Synonymous | 12/20 | - |
15-62210504-G-T | VPS13C | c.7510-48C>A | - | IntronicSNV | - | 56/82 |
15-62210504-G-A | VPS13C | c.7510-48C>T | - | IntronicSNV | - | 56/82 |
15-62210504-G-C | VPS13C | c.7510-48C>G | - | IntronicSNV | - | 56/82 |
6-30032495-A-G | ZNRD1 | c.*21A>G | - | 3-UTRSNV | 5/5 | - |
12-103257308-T-C | PAH | c.509+3066A>G | - | IntronicSNV | - | 5/12 |
12-6434349-C-A | PLEKHG6 | c.1525-1245C>A | - | IntronicSNV | - | 13/15 |
8-145737514-G-A | RECQL4 | c.3236+13C>T | - | intron_variant | - | 19/21 |
21-44478497-C-T | CBS | c.1359-134G>A | - | IntronicSNV | - | 14/16 |
2-113978940-C-G | PAX8 | c.1190-1185G>C | - | IntronicSNV | - | 10/11 |
17-79577127-T-G | NPLOC4 | c.435+109A>C | - | IntronicSNV | - | 5/16 |
17-28511978-G-A | NSRP1 | c.963G>A | p.Gln321Gln | Synonymous | 7/7 | - |
10-114756041-A-G | TCF7L2 | c.382-43743A>G | - | IntronicSNV | - | 3/13 |
21-47685939-A-G | MCM3AP | c.2931T>C | p.His977His | Synonymous | 11/28 | - |
1-156713558-G-T | HDGF | c.602C>A | p.Pro201His | Missense | 5/6 | - |
5-36914179-C-T | NIPBL | c.-80+36899C>T | - | intron_variant | - | 1/45 |
12-110026024-G-T | MVK | c.677+1420G>T | - | IntronicSNV | - | 7/10 |
16-28847149-G-C | ATXN2L | c.2895+70G>C | - | IntronicSNV | - | 21/21 |
19-18285944-G-A | IFI30 | c.227G>A | p.Arg76Gln | Missense | 2/7 | - |
1-117076547-G-T | CD58 | c.628+2040C>A | - | IntronicSNV | - | 3/5 |
2-99083892-A-G | INPP4A | c.-166+22344A>G | - | intron_variant | - | 1/25 |
15-56524096-A-C | RFX7 | c.161+11227T>G | - | IntronicSNV | - | 2/9 |
3-50307950-G-A | SEMA3B | c.327+24G>A | - | intron_variant | - | 5/18 |
1-214820099-A-G | CENPF | c.7186A>G | p.Asn2396Asp | Missense | 13/20 | - |
11-27516785-C-G | LIN7C | c.*3411G>C | - | 3-UTRSNV | 5/5 | - |
6-76311718-C-T | SENP6 | c.1-523C>T | - | 5-UTRSNV | 1/24 | - |
22-21982892-C-T | YDJC | c.787G>A | p.Ala263Thr | Missense | 5/5 | - |
1-64107893-G-A | PGM1 | c.1144+3422G>A | - | IntronicSNV | - | 7/10 |
15-58246802-G-C | ALDH1A2 | c.*593C>G | - | 3-UTRSNV | 14/14 | - |
16-28603655-T-G | SULT1A2 | c.704A>C | p.Asn235Thr | Missense | 7/8 | - |
12-56814653-G-A | TIMELESS | c.3053C>T | p.Pro1018Leu | Missense | 25/29 | - |
15-89804111-G-A | FANCI | c.288+37G>A | - | IntronicSNV | - | 4/36 |
11-6519363-C-T | DNHD1 | c.1-83C>T | - | 5-UTRSNV | 3/43 | - |
11-63963947-T-G | STIP1 | c.672+662T>G | - | IntronicSNV | - | 5/13 |
1-25674785-C-T | TMEM50A | c.207-3332C>T | - | IntronicSNV | - | 3/6 |
6-71289189-A-G | SDHAF4 | c.137A>G | p.Gln46Arg | Missense | 2/3 | - |
5-56111751-G-T | MAP3K1 | c.351G>T | p.Ala117Ala | Synonymous | 1/20 | - |
6-167437988-C-T | FGFR1OP | c.807-282C>T | - | IntronicSNV | - | 8/12 |
7-103603090-T-C | RELN | c.226+26488A>G | - | IntronicSNV | - | 1/64 |
2-61729268-T-C | XPO1 | c.364-93A>G | - | IntronicSNV | - | 5/24 |
12-120565188-G-A | GCN1 | c.*465C>T | - | 3-UTRSNV | 58/58 | - |
12-94092690-C-A | CRADD | c.298+19842C>A | - | IntronicSNV | - | 2/2 |
12-120189879-A-T | CIT | c.2754T>A | p.Ala918Ala | Synonymous | 22/47 | - |
6-30179422-G-A | TRIM26 | c.-376+1660C>T | - | intron_variant | - | 1/9 |
4-74314649-C-T | AFP | c.1059-403C>T | - | IntronicSNV | - | 8/14 |
7-1886535-G-C | MAD1L1 | c.1999-30671C>G | - | IntronicSNV | - | 18/18 |
7-103404815-G-A | RELN | c.545-11154C>T | - | IntronicSNV | - | 4/64 |
15-72169466-G-A | MYO9A | c.5931+915C>T | - | IntronicSNV | - | 31/41 |
16-71965196-C-T | PKD1L3 | c.4921-1110G>A | - | intron_variant | - | 29/30 |
17-80191425-C-A | SLC16A3 | c.1-2460C>A | - | IntronicSNV | - | 1/4 |
7-105149122-T-G | PUS7 | c.1-163A>C | - | IntronicSNV | 1/16 | - |
1-204518842-C-A | MDM4 | c.*32C>A | - | 3-UTRSNV | 11/11 | - |
1-156255456-G-A | TMEM79 | c.439G>A | p.Val147Met | Missense | 2/4 | - |
18-67283041-A-T | DOK6 | c.289+16307A>T | - | IntronicSNV | - | 3/7 |
1-204518842-C-G | MDM4 | c.*32C>G | - | 3-UTRSNV | 11/11 | - |
7-123376560-G-A | WASL | c.117+12112C>T | - | IntronicSNV | - | 1/10 |
17-33921857-G-T | AP2B1 | c.37+771G>T | - | IntronicSNV | - | 2/21 |
20-21142813-T-C | KIZ | c.707T>C | p.Met236Thr | Missense | 5/14 | - |
12-103248924-C-T | PAH | c.696G>A | p.Gln232Gln | Synonymous | 6/13 | - |
17-80111026-T-A | CCDC57 | c.2241+4598A>T | - | IntronicSNV | - | 14/16 |
6-10981053-G-A | ELOVL2 | c.*2961C>T | - | 3-UTRSNV | 8/8 | - |
5-37046626-A-G | NIPBL | c.6589+325A>G | - | IntronicSNV | - | 38/45 |
6-10995015-G-C | ELOVL2 | c.505+225C>G | - | IntronicSNV | - | 5/7 |
1-180962282-A-G | STX6 | c.363+217T>C | - | IntronicSNV | - | 4/7 |
20-33969530-C-T | UQCC1 | c.333+191G>A | - | IntronicSNV | - | 4/9 |
6-101183819-C-T | ASCC3 | c.1738-10240G>A | - | IntronicSNV | - | 10/41 |
15-75312187-A-G | SCAMP5 | c.*863A>G | - | 3-UTRSNV | 7/7 | - |
2-161306828-G-T | RBMS1 | c.75+42972C>A | - | IntronicSNV | - | 1/13 |
14-32088281-A-G | NUBPL | c.382+19696A>G | - | IntronicSNV | - | 4/10 |
1-54696319-A-C | SSBP3 | c.868-1820T>G | - | IntronicSNV | - | 13/16 |
1-23347125-C-T | KDM1A | c.351+685C>T | - | IntronicSNV | - | 1/18 |
8-121602140-A-C | SNTB1 | c.997-14675T>G | - | IntronicSNV | - | 3/6 |
17-80151881-G-A | CCDC57 | c.753C>T | p.Asp251Asp | Synonymous | 5/17 | - |
21-34925689-G-A | SON | c.4152G>A | p.Leu1384Leu | Synonymous | 3/12 | - |
17-2262703-C-T | SGSM2 | c.134-2228C>T | - | IntronicSNV | - | 2/23 |
10-73772661-T-G | CHST3 | c.*4432T>G | - | 3-UTRSNV | 3/3 | - |
1-156197380-C-T | PMF1-BGLAP | c.162-4731C>T | - | IntronicSNV | - | 1/6 |
6-17699322-G-T | NUP153 | c.111+7186C>A | - | IntronicSNV | - | 1/22 |
17-65874541-C-T | BPTF | c.2053+2681C>T | - | IntronicSNV | - | 5/29 |
1-95697529-A-C | TMEM56-RWDD3 | c.566+979A>C | - | IntronicSNV | - | 7/7 |
7-72904810-C-T | BAZ1B | c.694-1089G>A | - | IntronicSNV | - | 5/19 |
19-48374538-T-G | SULT2A1 | c.*174A>C | - | 3-UTRSNV | 6/6 | - |
19-48374538-T-C | SULT2A1 | c.*174A>G | - | 3-UTRSNV | 6/6 | - |
2-234054873-G-T | INPP5D | c.738G>T | - | synonymous_variant | 8/28 | - |
7-123378471-C-A | WASL | c.117+10201G>T | - | IntronicSNV | - | 1/10 |
12-57070840-G-A | PTGES3 | c.3-3991C>T | - | IntronicSNV | - | 1/7 |
16-67969930-A-T | PSMB10 | c.319T>A | p.Leu107Ile | Missense | 4/8 | - |
16-67969930-A-G | PSMB10 | c.319T>C | p.Leu107Leu | Synonymous | 4/8 | - |
15-89866954-A-G | POLG | c.2157+92T>C | - | IntronicSNV | - | 12/22 |
8-52765791-T-C | PCMTD1 | c.308-7468A>G | - | IntronicSNV | - | 2/5 |
7-107560191-C-T | DLD | c.*487C>T | - | 3-UTRSNV | 14/14 | - |
8-144669164-G-A | EEF1D | c.1092-142C>T | - | IntronicSNV | - | 3/9 |
15-89836228-G-T | FANCI | c.2225G>T | p.Cys742Phe | Missense | 22/37 | - |
15-89836228-G-C | FANCI | c.2225G>C | p.Cys742Ser | Missense | 22/37 | - |
15-89836228-G-A | FANCI | c.2225G>A | p.Cys742Tyr | Missense | 22/37 | - |
1-243608967-A-G | SDCCAG8 | c.1985+19107A>G | - | IntronicSNV | - | 16/17 |
5-131661156-T-C | SLC22A4 | c.825-1814T>C | - | IntronicSNV | - | 4/9 |
2-216294957-C-G | FN1 | c.685+481G>C | - | IntronicSNV | - | 5/43 |
16-28837515-T-G | ATXN2L | c.466-46T>G | - | IntronicSNV | - | 4/21 |
8-109228008-A-G | EIF3E | c.951+633T>C | - | IntronicSNV | - | 9/12 |
11-78072476-T-C | GAB2 | c.75+56216A>G | - | IntronicSNV | - | 1/9 |
6-29912451-C-A | HLA-A | c.1012+58C>A | - | IntronicSNV | - | 5/7 |
17-64216644-G-A | APOH | c.604+28C>T | - | IntronicSNV | - | 5/7 |
11-17160148-A-G | PIK3C2A | c.1705-1976T>C | - | IntronicSNV | - | 8/32 |
1-162062568-G-A | NOS1AP | c.105+22496G>A | - | IntronicSNV | - | 1/9 |
16-28837515-T-C | ATXN2L | c.466-46T>C | - | IntronicSNV | - | 4/21 |
17-80109778-A-G | CCDC57 | c.2241+5846T>C | - | IntronicSNV | - | 14/16 |
19-18545341-A-T | ISYNA1 | c.*382T>A | - | 3-UTRSNV | 11/11 | - |
20-25458096-A-G | NINL | c.2202-371T>C | - | IntronicSNV | - | 16/23 |
1-90336244-C-T | LRRC8D | c.-3+26903C>T | - | intron_variant | - | 2/2 |
19-18545341-A-C | ISYNA1 | c.*382T>G | - | 3-UTRSNV | 11/11 | - |
19-18545341-A-G | ISYNA1 | c.*382T>C | - | 3-UTRSNV | 11/11 | - |
1-145441620-T-G | TXNIP | c.*402T>G | - | 3-UTRSNV | 8/8 | - |
7-138172471-A-G | TRIM24 | c.365-16564A>G | - | IntronicSNV | - | 1/18 |
3-52833219-G-C | ITIH3 | c.789+112G>C | - | IntronicSNV | - | 7/21 |
6-33669577-C-T | UQCC2 | c.139-380G>A | - | IntronicSNV | - | 1/3 |
15-72559326-T-G | PARP6 | c.4-163A>C | - | IntronicSNV | - | 3/23 |
15-68585218-G-T | FEM1B | c.*1638G>T | - | IntergenicSNV | 2/2 | - |
1-211918244-T-A | LPGAT1 | c.*4997A>T | - | 3-UTRSNV | 8/8 | - |
15-62312840-A-C | VPS13C | c.496-103T>G | - | IntronicSNV | - | 6/82 |
2-61753786-C-T | XPO1 | c.127-130G>A | - | IntronicSNV | - | 2/24 |
17-38189049-G-A | MED24 | c.823-34C>T | - | IntronicSNV | - | 8/25 |
4-1237968-T-C | CTBP1 | c.40+4736A>G | - | IntronicSNV | - | 1/8 |
9-33817617-T-C | UBE2R2 | c.1-139T>C | - | 5-UTRSNV | 1/5 | - |
6-26184102-G-T | HIST1H2BE | c.79G>T | p.Gly27Cys | Missense | 1/1 | - |
12-76476956-A-T | NAP1L1 | c.-21+1391T>A | - | intron_variant | - | 1/15 |
5-172196711-G-T | DUSP1 | c.600C>A | p.Ile200Ile | Synonymous | 3/4 | - |
6-26184102-G-C | HIST1H2BE | c.79G>C | p.Gly27Arg | Missense | 1/1 | - |
2-148756624-G-A | ORC4 | c.-18+22393C>T | - | intron_variant | - | 1/13 |
19-10260869-T-C | DNMT1 | c.2218-225A>G | - | IntronicSNV | - | 23/39 |
2-210880893-C-T | RPE | c.139-35C>T | - | IntronicSNV | - | 2/5 |
2-99225645-T-C | UNC50 | c.-5+456T>C | - | intron_variant | - | 1/5 |
2-42276921-C-T | PKDCC | c.639+943C>T | - | IntronicSNV | - | 1/6 |
17-20905084-C-A | USP22 | c.*1260G>T | - | 3-UTRSNV | 13/13 | - |
8-28751381-C-T | HMBOX1 | c.-58+2074C>T | - | intron_variant | - | 2/10 |
5-110434261-T-G | WDR36 | c.460-159T>G | - | IntronicSNV | - | 3/22 |
2-11725049-T-C | GREB1 | c.902-238T>C | - | IntronicSNV | - | 7/32 |
17-20905084-C-G | USP22 | c.*1260G>C | - | 3-UTRSNV | 13/13 | - |
15-58253106-T-A | ALDH1A2 | c.1347-64A>T | - | IntronicSNV | - | 12/13 |
17-80112599-G-A | CCDC57 | c.2241+3025C>T | - | IntronicSNV | - | 14/16 |
4-74312552-A-G | AFP | c.844-627A>G | - | IntronicSNV | - | 7/14 |
4-1291113-G-C | MAEA | c.69+7343G>C | - | IntronicSNV | - | 1/7 |
20-13134768-T-C | SPTLC3 | c.1398T>C | p.Tyr466Tyr | Synonymous | 10/12 | - |
2-96850885-T-C | STARD7 | c.*1583A>G | - | 3-UTRSNV | 8/8 | - |
7-103408286-C-T | RELN | c.544+8718G>A | - | IntronicSNV | - | 4/64 |
20-25276297-G-A | PYGB | c.2370G>A | p.Gln790Gln | Synonymous | 19/20 | - |
8-17858297-G-C | PCM1 | c.4828-5475G>C | - | IntronicSNV | - | 29/38 |
4-1718883-A-T | TMEM129 | c.*254T>A | - | 3-UTRSNV | 3/3 | - |
1-145442254-G-C | TXNIP | c.*1035G>C | - | 3_prime_UTR_variant | 8/8 | - |
1-8413839-A-G | RERE | c.*1308T>C | - | 3-UTRSNV | 23/23 | - |
5-95222277-C-A | ELL2 | c.*2298G>T | - | 3-UTRSNV | 12/12 | - |
17-61908556-C-G | PSMC5 | c.840C>G | p.Leu280Leu | Synonymous | 8/12 | - |
17-61908556-C-T | PSMC5 | c.840C>T | p.Leu280Leu | Synonymous | 8/12 | - |
2-71566841-G-A | ZNF638 | c.-203+7836G>A | - | intron_variant | - | 1/27 |
5-36887895-T-C | NIPBL | c.-80+10615T>C | - | intron_variant | - | 1/45 |
11-64012784-G-A | PPP1R14B | c.259-25C>T | - | IntronicSNV | - | 1/3 |
1-155880159-T-C | RIT1 | c.163+82A>G | - | IntronicSNV | - | 3/5 |
1-2187085-T-G | SKI | c.969+25911T>G | - | IntronicSNV | - | 1/6 |
2-71566841-G-T | ZNF638 | c.-203+7836G>T | - | intron_variant | - | 1/27 |
2-71584485-G-A | ZNF638 | c.1379+1575G>A | - | IntronicSNV | - | 3/27 |
12-122628219-T-C | MLXIP | c.*1860T>C | - | 3_prime_UTR_variant | 17/17 | - |
3-120068022-C-G | LRRC58 | c.69G>C | p.Val23Val | Synonymous | 1/4 | - |
1-234583618-C-T | TARBP1 | c.1961+608G>A | - | IntronicSNV | - | 11/29 |
8-94745386-G-T | RBM12B | c.*247C>A | - | 3-UTRSNV | 3/3 | - |
4-1694809-T-C | SLBP | c.*515A>G | - | 3-UTRSNV | 8/8 | - |
10-114812071-T-A | TCF7L2 | c.483+12186T>A | - | IntronicSNV | - | 4/13 |
7-2869985-T-C | GNA12 | c.309+13502A>G | - | IntronicSNV | - | 1/3 |
3-65529435-G-A | MAGI1 | c.431-50129C>T | - | IntronicSNV | - | 2/22 |
7-75616105-G-C | POR | c.*306G>C | - | 3-UTRSNV | 16/16 | - |
10-102265815-A-G | SEC31B | c.1026T>C | p.His342His | Synonymous | 9/26 | - |
7-105149122-T-C | PUS7 | c.1-163A>G | - | IntronicSNV | 1/16 | - |
5-131721204-T-C | SLC22A5 | c.824+13T>C | - | IntronicSNV | - | 4/9 |
11-27516785-C-A | LIN7C | c.*3411G>T | - | 3-UTRSNV | 5/5 | - |
20-48568929-G-T | RNF114 | c.*251G>T | - | 3-UTRSNV | 6/6 | - |
20-48568929-G-A | RNF114 | c.*251G>A | - | 3-UTRSNV | 6/6 | - |
6-101134077-C-T | ASCC3 | c.2152-6449G>A | - | IntronicSNV | - | 13/41 |
12-56814653-G-C | TIMELESS | c.3053C>G | p.Pro1018Arg | Missense | 25/29 | - |
17-56736598-G-A | TEX14 | c.1-7236C>T | - | IntronicSNV | - | 1/32 |
20-30725648-A-G | TM9SF4 | c.229+1672A>G | - | IntronicSNV | - | 3/17 |
6-31106268-A-C | PSORS1C1 | c.43+32A>C | - | IntronicSNV | - | 4/5 |
17-64303793-C-T | PRKCA | c.205+1548C>T | - | IntronicSNV | - | 2/16 |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
3-52567617-A-G | NT5DC2 | c.121+932T>C | - | IntronicSNV | - | 1/13 |
19-18543054-C-T | SSBP4 | c.704+30C>T | - | IntronicSNV | - | 10/17 |
16-30995669-T-A | SETD1A | c.*325T>A | - | 3-UTRSNV | 19/19 | - |
2-96861159-C-G | STARD7 | c.419G>C | p.Arg140Pro | Missense | 2/8 | - |
2-96861159-C-T | STARD7 | c.419G>A | p.Arg140His | Missense | 2/8 | - |
15-41572702-A-T | CHP1 | c.*1115A>T | - | 3-UTRSNV | 7/7 | - |
11-63961242-G-A | STIP1 | c.220-419G>A | - | IntronicSNV | - | 2/13 |
15-41572702-A-G | CHP1 | c.*1115A>G | - | 3-UTRSNV | 7/7 | - |
16-11179873-A-G | CLEC16A | c.2116+24994A>G | - | IntronicSNV | - | 19/23 |
11-95995448-T-A | MAML2 | c.513+79099A>T | - | IntronicSNV | - | 1/4 |
6-70490511-A-G | LMBRD1 | c.247-65T>C | - | IntronicSNV | - | 2/15 |
1-180953853-A-G | STX6 | c.651T>C | p.Asn217Asn | Synonymous | 7/8 | - |
1-93303603-T-G | RPL5 | c.705+413T>G | - | IntronicSNV | - | 6/7 |
8-121568921-C-T | SNTB1 | c.1137-7723G>A | - | IntronicSNV | - | 4/6 |
11-68840160-A-G | TPCN2 | c.1127A>G | p.Lys376Arg | Missense | 12/25 | - |
1-150938571-G-A | CERS2 | c.*53C>T | - | 3-UTRSNV | 11/11 | - |
2-161306828-G-C | RBMS1 | c.75+42972C>G | - | IntronicSNV | - | 1/13 |
2-32447868-A-G | SLC30A6 | c.*2086A>G | - | 3-UTRSNV | 15/15 | - |
3-120043836-C-T | LRRC58 | c.*6211G>A | - | 3-UTRSNV | 4/4 | - |
2-61688727-T-C | USP34 | c.43+9058A>G | - | IntronicSNV | - | 1/79 |
20-47772264-A-T | STAU1 | c.206-1656T>A | - | IntronicSNV | - | 3/13 |
2-61688727-T-A | USP34 | c.43+9058A>T | - | IntronicSNV | - | 1/79 |
1-169511755-T-C | F5 | c.2573A>G | p.Lys858Arg | Missense | 13/25 | - |
12-124491529-G-C | ZNF664 | c.-660-4399G>C | - | intron_variant | - | 3/4 |
11-68240241-C-A | PPP6R3 | c.-263+11946C>A | - | intron_variant | - | 1/22 |
11-68240241-C-T | PPP6R3 | c.-263+11946C>T | - | intron_variant | - | 1/22 |
12-46321514-A-T | SCAF11 | c.1970T>A | p.Phe657Tyr | Missense | 11/15 | - |
10-114756041-A-T | TCF7L2 | c.382-43743A>T | - | IntronicSNV | - | 3/13 |
12-123731423-A-G | C12orf65 | c.1-6799A>G | - | IntronicSNV | - | 1/2 |
12-123731423-A-T | C12orf65 | c.1-6799A>T | - | IntronicSNV | - | 1/2 |
11-6519363-C-G | DNHD1 | c.1-83C>G | - | 5-UTRSNV | 3/43 | - |
11-6519363-C-A | DNHD1 | c.1-83C>A | - | 5-UTRSNV | 3/43 | - |
5-137851192-C-T | ETF1 | c.403-1797G>A | - | IntronicSNV | - | 4/10 |
15-59222464-G-A | SLTM | c.250+2091C>T | - | IntronicSNV | - | 2/20 |
15-65734856-G-T | DPP8 | c.*4366C>A | - | IntergenicSNV | 18/18 | - |
15-65734856-G-C | DPP8 | c.*4366C>G | - | IntergenicSNV | 18/18 | - |
15-59222464-G-C | SLTM | c.250+2091C>G | - | IntronicSNV | - | 2/20 |
12-66359752-C-A | HMGA2 | c.*2680C>A | - | 3-UTRSNV | 5/5 | - |
2-105910513-G-A | TGFBRAP1 | c.1038+2300C>T | - | IntronicSNV | - | 4/11 |
7-105149707-A-G | PUS7 | c.1-748T>C | - | IntronicSNV | - | 1/15 |
3-38443312-T-C | XYLB | c.1533+836T>C | - | IntronicSNV | - | 18/18 |
19-18571141-A-G | ELL | c.744+1247T>C | - | IntronicSNV | - | 5/11 |
3-120068022-C-A | LRRC58 | c.69G>T | p.Val23Val | Synonymous | 1/4 | - |
5-95241222-T-C | ELL2 | c.741+1005A>G | - | IntronicSNV | - | 5/11 |
1-61620496-A-G | NFIA | c.559+66144A>G | - | IntronicSNV | - | 2/9 |
19-18546678-T-C | ISYNA1 | c.1029A>G | p.Leu343Leu | Synonymous | 8/11 | - |
2-99225168-C-G | UNC50 | c.-26C>G | - | 5_prime_UTR_variant | 1/6 | - |
7-106733276-T-C | PRKAR2B | c.343+22515T>C | - | IntronicSNV | - | 2/10 |
2-99225168-C-T | UNC50 | c.-26C>T | - | 5_prime_UTR_variant | 1/6 | - |
1-183113862-C-T | LAMC1 | c.*1937C>T | - | 3-UTRSNV | 28/28 | - |
20-32667298-T-C | RALY | c.*5-418T>C | - | intron_variant | - | 8/8 |
1-182993960-T-C | LAMC1 | c.418+691T>C | - | IntronicSNV | - | 1/27 |
7-150930363-C-T | CHPF2 | c.1-735C>T | - | 5-UTRSNV | 1/4 | - |
1-11860458-C-T | MTHFR | c.476-79G>A | - | IntronicSNV | - | 3/11 |
2-44701901-T-G | CAMKMT | c.376+84457T>G | - | IntronicSNV | - | 3/10 |
1-162304276-A-G | NOS1AP | c.453+1361A>G | - | IntronicSNV | - | 5/9 |
16-270288-C-A | LUC7L | c.255+360G>T | - | IntronicSNV | - | 3/9 |
17-53034628-T-G | TOM1L1 | c.1371-3299T>G | - | IntronicSNV | - | 14/15 |
12-123742061-G-A | C12orf65 | c.*483G>A | - | 3-UTRSNV | 3/3 | - |
7-1886388-C-G | MAD1L1 | c.1999-30524G>C | - | IntronicSNV | - | 18/18 |
8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
5-137851192-C-A | ETF1 | c.403-1797G>T | - | IntronicSNV | - | 4/10 |
5-137851192-C-G | ETF1 | c.403-1797G>C | - | IntronicSNV | - | 4/10 |
16-68189340-G-A | NFATC3 | c.1402-2432G>A | - | IntronicSNV | - | 3/10 |
18-34401806-G-A | TPGS2 | c.86-2870C>T | - | IntronicSNV | - | 1/6 |
8-116597409-T-G | TRPS1 | c.2700+1819A>C | - | IntronicSNV | - | 5/6 |
5-95234350-A-G | ELL2 | c.1119T>C | p.Pro373Pro | Synonymous | 8/12 | - |
17-80053590-G-A | FASN | c.128-242C>T | - | IntronicSNV | - | 2/42 |
2-99172244-A-G | INPP4A | c.1720+90A>G | - | IntronicSNV | - | 17/25 |
2-99172244-A-T | INPP4A | c.1720+90A>T | - | IntronicSNV | - | 17/25 |
10-102302457-A-G | HIF1AN | c.577+1918A>G | - | IntronicSNV | - | 3/7 |
6-31380198-C-T | MICA | c.989C>T | p.Pro330Leu | Missense | 5/6 | - |
8-121587165-G-T | SNTB1 | c.1136+161C>A | - | IntronicSNV | - | 4/6 |
2-219562675-G-A | STK36 | c.2945G>A | p.Gly982Asp | Missense | 25/27 | - |
19-18618867-G-A | ELL | c.135+13864C>T | - | IntronicSNV | - | 1/11 |
4-1746229-G-T | TACC3 | c.2224-16G>T | - | IntronicSNV | - | 13/15 |
1-61791863-G-C | NFIA | c.626-6321G>C | - | IntronicSNV | - | 3/9 |
2-166917408-A-T | SCN1A | c.265-2210T>A | - | IntronicSNV | - | 4/28 |
20-30795819-T-C | POFUT1 | c.75T>C | p.Pro25Pro | Synonymous | 1/7 | - |
1-156264000-G-A | GLMP | c.607C>T | p.Pro203Ser | Missense | 4/6 | - |
1-55512995-G-A | PCSK9 | c.523+676G>A | - | IntronicSNV | - | 3/11 |
7-117824239-G-T | LSM8 | c.1-39G>T | - | 5-UTRSNV | 1/4 | - |
7-117824239-G-C | LSM8 | c.1-39G>C | - | 5-UTRSNV | 1/4 | - |
1-19785911-G-A | CAPZB | c.3+26019C>T | - | IntronicSNV | - | 1/9 |
6-29912457-C-A | HLA-A | c.1012+64C>A | - | IntronicSNV | - | 5/7 |
6-29912457-C-G | HLA-A | c.1012+64C>G | - | IntronicSNV | - | 5/7 |
21-40566067-A-G | BRWD1 | c.*2118T>C | - | 3-UTRSNV | 41/41 | - |
3-39111140-C-T | WDR48 | c.577C>T | p.Arg193Trp | Missense | 7/19 | - |
1-153939130-C-T | SLC39A1 | c.-140+732G>A | - | intron_variant | - | 1/4 |
1-153939130-C-G | SLC39A1 | c.-140+732G>C | - | intron_variant | - | 1/4 |
20-32667220-A-G | RALY | c.*865A>G | - | IntronicSNV | 9/9 | - |
7-72984780-T-C | TBL2 | c.*57A>G | - | 3-UTRSNV | 7/7 | - |
11-31504194-C-T | IMMP1L | c.-92-8861G>A | - | intron_variant | - | 1/6 |
5-1330840-T-C | CLPTM1L | c.977-342A>G | - | IntronicSNV | - | 8/16 |
11-68295628-T-C | PPP6R3 | c.1-9505T>C | - | IntronicSNV | - | 1/22 |
2-219112956-T-C | ARPC2 | c.677-1131T>C | - | IntronicSNV | - | 7/9 |
12-62705895-T-C | USP15 | c.349-2676T>C | - | IntronicSNV | - | 3/20 |
6-127633810-A-T | ECHDC1 | c.497+2151T>A | - | IntronicSNV | - | 5/5 |
11-78015563-A-C | GAB2 | c.76-23616T>G | - | IntronicSNV | - | 1/9 |
17-64212242-T-A | APOH | c.784+664A>T | - | IntronicSNV | - | 6/7 |
17-64212242-T-C | APOH | c.784+664A>G | - | IntronicSNV | - | 6/7 |
1-65822517-G-T | DNAJC6 | c.194-7801G>T | - | IntronicSNV | - | 1/18 |
2-48025764-C-T | MSH6 | c.642C>T | p.Tyr214Tyr | Synonymous | 4/10 | - |
1-155868625-G-A | RIT1 | c.*1554C>T | - | 3-UTRSNV | 6/6 | - |
11-57560452-A-C | CTNND1 | c.196-1030A>C | - | IntronicSNV | - | 3/18 |
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 | - |
1-153913770-A-G | DENND4B | c.1123-5T>C | - | IntronicSNV | - | 7/27 |
1-179071756-G-A | ABL2 | c.*5097C>T | - | 3-UTRSNV | 12/12 | - |
1-90343951-A-G | LRRC8D | c.-3+34610A>G | - | intron_variant | - | 2/2 |
5-167943827-G-C | RARS | c.1497G>C | p.Ala499Ala | Synonymous | 13/15 | - |
12-51134741-A-G | DIP2B | c.4355-458A>G | - | IntronicSNV | - | 36/37 |
2-11734315-T-A | GREB1 | c.1697-1062T>A | - | IntronicSNV | - | 11/32 |
19-55526345-T-G | GP6 | c.968A>C | p.Lys323Thr | Missense | 8/8 | - |
5-134272055-T-C | PCBD2 | c.217-22675T>C | - | IntronicSNV | - | 2/3 |
17-20906257-A-G | USP22 | c.*87T>C | - | 3-UTRSNV | 13/13 | - |
1-61610049-G-A | NFIA | c.559+55697G>A | - | IntronicSNV | - | 2/9 |
17-79589242-G-T | NPLOC4 | c.159C>A | p.Thr53Thr | Synonymous | 3/17 | - |
16-67977382-T-C | LCAT | c.155-267A>G | - | IntronicSNV | - | 1/5 |
20-48569127-G-A | RNF114 | c.*449G>A | - | 3-UTRSNV | 6/6 | - |
20-48600631-T-C | SNAI1 | c.353T>C | p.Val118Ala | Missense | 2/3 | - |
17-80111442-G-T | CCDC57 | c.2241+4182C>A | - | IntronicSNV | - | 14/16 |
2-113993344-A-C | PAX8 | c.899-185T>G | - | IntronicSNV | - | 8/11 |
1-26568542-T-G | CEP85 | c.56-2115T>G | - | IntronicSNV | - | 2/13 |
4-1291113-G-T | MAEA | c.69+7343G>T | - | IntronicSNV | - | 1/7 |
7-128384605-C-G | CALU | c.1-4033C>G | - | IntronicSNV | - | 1/6 |
7-128384605-C-A | CALU | c.1-4033C>A | - | IntronicSNV | - | 1/6 |
17-38064405-C-T | GSDMB | c.661+806G>A | - | IntronicSNV | - | 4/7 |
16-89760492-C-G | CDK10 | c.396-89C>G | - | IntronicSNV | - | 8/12 |
2-99083892-A-C | INPP4A | c.-166+22344A>C | - | intron_variant | - | 1/25 |
7-103403948-A-C | RELN | c.545-10287T>G | - | IntronicSNV | - | 4/64 |
7-120979089-C-G | WNT16 | c.788C>G | p.Thr263Arg | Missense | 4/4 | - |
13-113536627-A-G | ATP11A | c.*447A>G | - | 3_prime_UTR_variant | 30/30 | - |
4-74311433-C-G | AFP | c.843+594C>G | - | IntronicSNV | - | 7/14 |
4-702169-G-A | PCGF3 | c.-190+2410G>A | - | intron_variant | - | 1/10 |
5-167943827-G-A | RARS | c.1497G>A | p.Ala499Ala | Synonymous | 13/15 | - |
2-11734315-T-C | GREB1 | c.1697-1062T>C | - | IntronicSNV | - | 11/32 |
3-99592596-C-T | FILIP1L | c.-116+2320G>A | - | intron_variant | - | 1/1 |
6-111747083-G-C | REV3L | c.140-9408C>G | - | IntronicSNV | - | 2/32 |
6-167440736-G-A | FGFR1OP | c.988+633G>A | - | IntronicSNV | - | 10/12 |
6-167440736-G-C | FGFR1OP | c.988+633G>C | - | IntronicSNV | - | 10/12 |
2-190649316-G-A | PMS1 | c.-24G>A | - | 5_prime_UTR_variant | 1/13 | - |
2-190649316-G-C | PMS1 | c.-24G>C | - | 5_prime_UTR_variant | 1/13 | - |
1-114948281-A-G | TRIM33 | c.2519T>C | p.Ile840Thr | Missense | 15/20 | - |
17-20906257-A-T | USP22 | c.*87T>A | - | 3-UTRSNV | 13/13 | - |
6-30889389-T-C | VARS2 | c.1656T>C | p.Val552Val | Synonymous | 18/30 | - |
17-79589242-G-A | NPLOC4 | c.159C>T | p.Thr53Thr | Synonymous | 3/17 | - |
3-52821011-A-G | ITIH1 | c.1784A>G | p.Gln595Arg | Missense | 14/22 | - |
13-99167654-A-T | STK24 | c.309+3843T>A | - | IntronicSNV | - | 2/10 |
1-197070776-C-T | ASPM | c.7605G>A | p.Val2535Val | Synonymous | 18/28 | - |
20-21147009-A-G | KIZ | c.1352+3209A>G | - | IntronicSNV | - | 6/13 |
6-31603770-A-G | PRRC2A | c.5568A>G | p.Gln1856Gln | Synonymous | 25/31 | - |
17-38069949-C-T | GSDMB | c.236-1199G>A | - | IntronicSNV | - | 1/7 |
17-80111442-G-C | CCDC57 | c.2241+4182C>G | - | IntronicSNV | - | 14/16 |
7-72856269-G-A | BAZ1B | c.*257C>T | - | IntronicSNV | - | 19/19 |
8-22264334-T-G | SLC39A14 | c.271-1489T>G | - | IntronicSNV | - | 2/8 |
8-22264334-T-A | SLC39A14 | c.271-1489T>A | - | IntronicSNV | - | 2/8 |
8-22264334-T-C | SLC39A14 | c.271-1489T>C | - | IntronicSNV | - | 2/8 |
3-48462461-A-G | PLXNB1 | c.1811-96T>C | - | IntronicSNV | - | 8/37 |
8-145741765-G-A | RECQL4 | c.738C>T | p.Ser246Ser | Synonymous | 5/22 | - |
20-25278261-A-G | PYGB | c.*1103A>G | - | 3-UTRSNV | 20/20 | - |
2-27599875-T-G | SNX17 | c.*289T>G | - | 3-UTRSNV | 15/15 | - |
7-120979089-C-T | WNT16 | c.788C>T | p.Thr263Ile | Missense | 4/4 | - |
13-113540649-G-A | ATP11A | c.*4469G>A | - | 3_prime_UTR_variant | 30/30 | - |
13-113540649-G-T | ATP11A | c.*4469G>T | - | 3_prime_UTR_variant | 30/30 | - |
3-48466583-C-G | PLXNB1 | c.1-563G>C | - | IntronicSNV | - | 1/37 |
6-31380194-T-C | MICA | c.985T>C | p.Cys329Arg | Missense | 5/6 | - |
6-31380194-T-A | MICA | c.985T>A | p.Cys329Ser | Missense | 5/6 | - |
19-11243735-C-G | LDLR | c.*1743C>G | - | 3-UTRSNV | 18/18 | - |
1-8526142-G-A | RERE | c.1105-59C>T | - | IntronicSNV | - | 10/22 |
3-53847408-A-G | CACNA1D | c.*1975A>G | - | IntergenicSNV | 49/49 | - |
5-95234791-C-T | ELL2 | c.955-277G>A | - | IntronicSNV | - | 7/11 |
3-53847408-A-T | CACNA1D | c.*1975A>T | - | IntergenicSNV | 49/49 | - |
5-95236415-G-A | ELL2 | c.936C>T | p.Asp312Asp | Synonymous | 7/12 | - |
8-121583283-A-G | SNTB1 | c.1136+4043T>C | - | IntronicSNV | - | 4/6 |
8-121583283-A-T | SNTB1 | c.1136+4043T>A | - | IntronicSNV | - | 4/6 |
4-17632988-G-C | FAM184B | c.*1167C>G | - | IntergenicSNV | 18/18 | - |
4-17632988-G-A | FAM184B | c.*1167C>T | - | IntergenicSNV | 18/18 | - |
16-28603335-T-G | SULT1A2 | c.*14A>C | - | 3-UTRSNV | 8/8 | - |
16-28603335-T-C | SULT1A2 | c.*14A>G | - | 3-UTRSNV | 8/8 | - |
5-642293-A-G | CEP72 | c.1539+1574A>G | - | IntronicSNV | - | 9/11 |
16-31048079-C-T | STX4 | c.379-1168C>T | - | IntronicSNV | - | 5/10 |
5-642293-A-T | CEP72 | c.1539+1574A>T | - | IntronicSNV | - | 9/11 |
2-201177193-T-C | SPATS2L | c.-73+6310T>C | - | intron_variant | - | 1/12 |
1-183079853-T-C | LAMC1 | c.1021+64T>C | - | IntronicSNV | - | 4/27 |
1-183079853-T-G | LAMC1 | c.1021+64T>G | - | IntronicSNV | - | 4/27 |
12-107350088-C-G | TMEM263 | c.-75+245C>G | - | intron_variant | - | 1/3 |
1-67679990-G-A | IL23R | c.799-5267G>A | - | IntronicSNV | - | 6/10 |
16-53297685-T-G | CHD9 | c.4320+676T>G | - | IntronicSNV | - | 20/38 |
1-1249187-G-A | INTS11 | c.882C>T | p.Phe294Phe | Synonymous | 9/17 | - |
8-145724973-C-G | PPP1R16A | c.477-506C>G | - | IntronicSNV | - | 6/12 |
6-31379773-C-T | MICA | c.663C>T | p.Ile221Ile | Synonymous | 4/6 | - |
10-7894082-T-G | TAF3 | c.409+27559T>G | - | IntronicSNV | - | 2/6 |
20-25268920-T-C | PYGB | c.1769-141T>C | - | IntronicSNV | - | 14/19 |
1-243579112-G-A | SDCCAG8 | c.1725G>A | p.Glu575Glu | Synonymous | 14/18 | - |
6-33660143-G-A | ITPR3 | c.7459-362G>A | - | IntronicSNV | - | 54/57 |
5-137725003-C-T | KDM3B | c.1381-1699C>T | - | IntronicSNV | - | 7/23 |
2-69985435-G-A | ANXA4 | c.-47+16128G>A | - | intron_variant | - | 1/12 |
7-138179704-A-G | TRIM24 | c.365-9331A>G | - | IntronicSNV | - | 1/18 |
16-53283966-G-A | CHD9 | c.3849G>A | p.Gln1283Gln | Synonymous | 17/39 | - |
9-111781495-G-A | TMEM245 | c.*1245C>T | - | 3-UTRSNV | 18/18 | - |
1-113214097-G-A | CAPZA1 | c.*1343G>A | - | 3-UTRSNV | 10/10 | - |
9-111781495-G-C | TMEM245 | c.*1245C>G | - | 3-UTRSNV | 18/18 | - |
1-8654305-G-T | RERE | c.522+20315C>A | - | IntronicSNV | - | 4/22 |
19-1063443-A-C | ABCA7 | c.5713-100A>C | - | IntronicSNV | - | 42/46 |
19-1063443-A-G | ABCA7 | c.5713-100A>G | - | IntronicSNV | - | 42/46 |
4-145982563-A-G | ANAPC10 | c.327+3161T>C | - | IntronicSNV | - | 4/4 |
17-47370449-T-G | ZNF652 | c.*5326A>C | - | 3-UTRSNV | 6/6 | - |
9-111868885-G-A | TMEM245 | c.702C>T | p.Ser234Ser | Synonymous | 3/18 | - |
1-8654305-G-A | RERE | c.522+20315C>T | - | IntronicSNV | - | 4/22 |
1-8654305-G-C | RERE | c.522+20315C>G | - | IntronicSNV | - | 4/22 |
11-78091150-C-A | GAB2 | c.75+37542G>T | - | IntronicSNV | - | 1/9 |
10-114202526-A-G | ZDHHC6 | c.360-417T>C | - | IntronicSNV | - | 3/10 |
16-31121793-G-A | BCKDK | c.615G>A | p.Thr205Thr | Synonymous | 7/12 | - |
5-176492883-T-G | ZNF346 | c.*1283T>G | - | 3-UTRSNV | 7/7 | - |
5-176492883-T-C | ZNF346 | c.*1283T>C | - | 3-UTRSNV | 7/7 | - |
11-65314830-A-T | LTBP3 | c.2107+80T>A | - | IntronicSNV | - | 14/26 |
5-179193598-C-T | MAML1 | c.1587C>T | p.Ser529Ser | Synonymous | 2/5 | - |
11-65314830-A-G | LTBP3 | c.2107+80T>C | - | IntronicSNV | - | 14/26 |
7-103627369-A-T | RELN | c.226+2209T>A | - | IntronicSNV | - | 1/64 |
2-71645828-G-A | ZNF638 | c.3299+59G>A | - | IntronicSNV | - | 21/27 |
2-234054873-G-A | INPP5D | c.738G>A | - | synonymous_variant | 8/28 | - |
6-167436461-T-C | FGFR1OP | c.806+338T>C | - | IntronicSNV | - | 8/12 |
12-57081517-A-G | PTGES3 | c.2+265T>C | - | IntronicSNV | - | 1/7 |
2-216297796-G-C | FN1 | c.415+251C>G | - | IntronicSNV | - | 3/43 |
19-19619542-A-G | GATAD2A | c.*3259A>G | - | 3-UTRSNV | 12/12 | - |
20-61491494-T-C | TCFL5 | c.814A>G | p.Asn272Asp | Missense | 2/6 | - |
15-89858602-T-C | FANCI | c.3726T>C | p.Gly1242Gly | Synonymous | 36/37 | - |
4-1238363-A-G | CTBP1 | c.40+4341T>C | - | IntronicSNV | - | 1/8 |
6-70407465-A-T | LMBRD1 | c.1407T>A | p.Asp469Glu | Missense | 14/16 | - |
1-61617094-G-A | NFIA | c.559+62742G>A | - | IntronicSNV | - | 2/9 |
16-4014282-C-T | ADCY9 | c.*1494G>A | - | 3-UTRSNV | 11/11 | - |
16-4014282-C-A | ADCY9 | c.*1494G>T | - | 3-UTRSNV | 11/11 | - |
16-4014282-C-G | ADCY9 | c.*1494G>C | - | 3-UTRSNV | 11/11 | - |
4-1238363-A-T | CTBP1 | c.40+4341T>A | - | IntronicSNV | - | 1/8 |
7-138157390-A-G | TRIM24 | c.364+11733A>G | - | IntronicSNV | - | 1/18 |
2-27550967-A-G | GTF3C2 | c.2346T>C | p.Pro782Pro | Synonymous | 17/19 | - |
3-52831701-C-G | ITIH3 | c.550-132C>G | - | IntronicSNV | - | 5/21 |
8-109234825-T-C | EIF3E | c.723-5136A>G | - | IntronicSNV | - | 7/12 |
7-107566488-G-T | LAMB1 | c.5064+140C>A | - | IntronicSNV | - | 32/33 |
11-5472767-A-G | OR51B5 | c.-360+54032T>C | - | intron_variant | - | 1/4 |
6-29911092-G-A | HLA-A | c.391G>A | p.Gly131Arg | Missense | 3/8 | - |
2-219501133-G-A | PLCD4 | c.2182+18G>A | - | IntronicSNV | - | 15/15 |
12-94126925-T-G | CRADD | c.298+54077T>G | - | IntronicSNV | - | 2/2 |
8-94752754-G-A | RBM12B | c.-78+355C>T | - | intron_variant | - | 1/2 |
1-41569708-T-C | SCMH1 | c.715+9247A>G | - | IntronicSNV | - | 8/15 |
3-128338953-T-G | RPN1 | c.*301A>C | - | 3-UTRSNV | 10/10 | - |
3-128338953-T-C | RPN1 | c.*301A>G | - | 3-UTRSNV | 10/10 | - |
3-128338953-T-A | RPN1 | c.*301A>T | - | 3-UTRSNV | 10/10 | - |
7-6431404-G-T | RAC1 | c.108-151G>T | - | IntronicSNV | - | 2/6 |
11-78204380-C-T | NARS2 | c.690-139G>A | - | IntronicSNV | - | 6/13 |
16-67984804-G-A | SLC12A4 | c.1396+61C>T | - | IntronicSNV | - | 10/23 |
7-103403966-A-G | RELN | c.545-10305T>C | - | IntronicSNV | - | 4/64 |
17-20919705-G-C | USP22 | c.691-493C>G | - | IntronicSNV | - | 5/12 |
19-34838998-C-T | KIAA0355 | c.2687+51C>T | - | IntronicSNV | - | 11/13 |
2-69723710-C-T | AAK1 | c.2270-498G>A | - | IntronicSNV | - | 16/21 |
2-61764140-C-A | XPO1 | c.-7+557G>T | - | intron_variant | - | 1/24 |
2-61764140-C-T | XPO1 | c.-7+557G>A | - | intron_variant | - | 1/24 |
2-10758029-T-C | NOL10 | c.1027-10592A>G | - | IntronicSNV | - | 13/20 |
21-40679864-A-C | BRWD1 | c.198+4903T>G | - | IntronicSNV | - | 4/40 |
5-95276260-C-A | ELL2 | c.195+2446G>T | - | IntronicSNV | - | 2/11 |
6-167435325-T-C | FGFR1OP | c.580-572T>C | - | IntronicSNV | - | 7/12 |
5-95276260-C-T | ELL2 | c.195+2446G>A | - | IntronicSNV | - | 2/11 |
1-242030151-A-G | EXO1 | c.1061A>G | p.His354Arg | Missense | 9/14 | - |
10-21827796-G-A | MLLT10 | c.195G>A | p.Pro65Pro | Synonymous | 3/23 | - |
5-112229903-G-A | REEP5 | c.352-7023C>T | - | IntronicSNV | - | 3/4 |
10-21827796-G-T | MLLT10 | c.195G>T | p.Pro65Pro | Synonymous | 3/23 | - |
12-66351826-T-G | HMGA2 | c.283-5199T>G | - | IntronicSNV | - | 4/4 |
16-68304392-C-T | SLC7A6 | c.-37+3768C>T | - | intron_variant | - | 2/10 |
16-31129942-C-T | KAT8 | c.211+729C>T | - | IntronicSNV | - | 1/10 |
1-156700651-T-G | RRNAD1 | c.112-1132T>G | - | IntronicSNV | - | 1/7 |
19-17387254-G-A | BABAM1 | c.570-50G>A | - | IntronicSNV | - | 6/8 |
2-219103580-A-T | ARPC2 | c.455+7A>T | - | IntronicSNV | - | 5/9 |
2-219103580-A-G | ARPC2 | c.455+7A>G | - | IntronicSNV | - | 5/9 |
1-1247494-T-C | INTS11 | c.1641A>G | p.Pro547Pro | Synonymous | 16/17 | - |
1-1247494-T-A | INTS11 | c.1641A>T | p.Pro547Pro | Synonymous | 16/17 | - |
1-1247494-T-G | INTS11 | c.1641A>C | p.Pro547Pro | Synonymous | 16/17 | - |
1-8811768-G-A | RERE | c.-145+65451C>T | - | intron_variant | - | 1/22 |
16-68251784-C-G | NFATC3 | c.*3452C>G | - | IntronicSNV | - | 10/10 |
7-138229990-G-A | TRIM24 | c.1144-5818G>A | - | IntronicSNV | - | 7/18 |
1-150808889-C-G | ARNT | c.522G>C | p.Val174Val | Synonymous | 6/21 | - |
16-28883241-A-T | SH2B1 | c.1450A>T | p.Thr484Ser | Missense | 5/9 | - |
19-18554972-A-G | ELL | c.*590T>C | - | 3-UTRSNV | 12/12 | - |
16-28883241-A-G | SH2B1 | c.1450A>G | p.Thr484Ala | Missense | 5/9 | - |
10-81114959-C-T | PPIF | c.*1361C>T | - | 3-UTRSNV | 6/6 | - |
21-40652142-G-T | BRWD1 | c.864C>A | p.Tyr288* | Nonsense | 9/41 | - |
12-120933946-T-C | DYNLL1 | c.-80T>C | - | 5_prime_UTR_variant | 1/3 | - |
15-75136261-C-G | SCAMP2 | c.*1163G>C | - | IntergenicSNV | 9/9 | - |
16-28617057-G-C | SULT1A1 | c.*85C>G | - | 3-UTRSNV | 8/8 | - |
1-59124803-C-T | MYSM1 | c.*866G>A | - | 3-UTRSNV | 20/20 | - |
2-166903445-T-C | SCN1A | c.1212A>G | p.Val404Val | Synonymous | 12/29 | - |
1-158585415-C-T | SPTA1 | c.6601-222G>A | - | IntronicSNV | - | 47/51 |
1-158585415-C-A | SPTA1 | c.6601-222G>T | - | IntronicSNV | - | 47/51 |
16-84796603-A-G | USP10 | c.1575A>G | p.Gln525Gln | Synonymous | 10/15 | - |
7-150647969-C-T | KCNH2 | c.2145+40G>A | - | IntronicSNV | - | 8/14 |
1-55509355-C-T | PCSK9 | c.208-161C>T | - | IntronicSNV | - | 1/11 |
3-52566065-T-C | NT5DC2 | c.121+2484A>G | - | IntronicSNV | - | 1/13 |
3-52566065-T-G | NT5DC2 | c.121+2484A>C | - | IntronicSNV | - | 1/13 |
1-117104215-A-G | CD58 | c.70+9310T>C | - | IntronicSNV | - | 1/5 |
11-6522804-G-A | DNHD1 | c.747-1179G>A | - | IntronicSNV | - | 3/42 |
2-219295835-G-A | VIL1 | c.1102+234G>A | - | IntronicSNV | - | 10/19 |
9-111881856-T-C | TMEM245 | c.338A>G | p.His113Arg | Missense | 1/18 | - |
2-61761774-A-G | XPO1 | c.1-742T>C | - | IntronicSNV | - | 1/24 |
6-47487762-A-G | CD2AP | c.166-13576A>G | - | IntronicSNV | - | 2/17 |
5-115481879-T-A | COMMD10 | c.510+12004T>A | - | IntronicSNV | - | 5/6 |
5-115481879-T-G | COMMD10 | c.510+12004T>G | - | IntronicSNV | - | 5/6 |
6-11042909-G-A | ELOVL2 | c.3+1552C>T | - | IntronicSNV | - | 1/7 |
3-52727257-G-A | GNL3 | c.1099G>A | p.Val367Met | Missense | 11/15 | - |
17-56736490-T-C | TEX14 | c.1-7128A>G | - | IntronicSNV | - | 1/32 |
2-61741947-T-G | XPO1 | c.301+7799A>C | - | IntronicSNV | - | 4/24 |
2-219142594-C-G | TMBIM1 | c.513+64G>C | - | IntronicSNV | - | 7/11 |
2-219142594-C-T | TMBIM1 | c.513+64G>A | - | IntronicSNV | - | 7/11 |
4-95224812-T-G | HPGDS | c.337-1417A>C | - | IntronicSNV | - | 4/5 |
20-48554977-C-G | RNF114 | c.140+1888C>G | - | IntronicSNV | - | 1/5 |
7-110898915-T-C | IMMP2L | c.239+228379A>G | - | IntronicSNV | - | 3/5 |
5-115169920-G-A | ATG12 | c.301-1559C>T | - | IntronicSNV | - | 2/3 |
15-99258710-A-C | IGF1R | c.640+7374A>C | - | IntronicSNV | - | 2/20 |
21-40567716-C-G | BRWD1 | c.*469G>C | - | 3-UTRSNV | 41/41 | - |
6-29912333-C-T | HLA-A | c.952C>T | p.Leu318Phe | Missense | 5/8 | - |
15-99258710-A-T | IGF1R | c.640+7374A>T | - | IntronicSNV | - | 2/20 |
1-214830617-A-G | CENPF | c.8827A>G | p.Arg2943Gly | Missense | 18/20 | - |
1-169543131-G-A | F5 | c.251-1550C>T | - | IntronicSNV | - | 2/24 |
12-122522921-T-C | MLXIP | c.413+5749T>C | - | intron_variant | - | 1/16 |
11-85757589-C-T | PICALM | c.131-14936G>A | - | IntronicSNV | - | 1/19 |
5-148888762-A-T | CSNK1A1 | c.750+680T>A | - | IntronicSNV | - | 7/9 |
5-148888762-A-G | CSNK1A1 | c.750+680T>C | - | IntronicSNV | - | 7/9 |
2-61716924-G-T | XPO1 | c.2022+853C>A | - | IntronicSNV | - | 17/24 |
1-158607935-T-A | SPTA1 | c.5077A>T | p.Lys1693* | Nonsense | 36/52 | - |
6-17699322-G-A | NUP153 | c.111+7186C>T | - | IntronicSNV | - | 1/22 |
7-111180544-C-T | IMMP2L | c.1-19041G>A | - | IntronicSNV | - | 1/5 |
11-47378396-C-G | SPI1 | c.494-1299G>C | - | IntronicSNV | - | 4/4 |
16-52579986-A-G | TOX3 | c.87+563T>C | - | IntronicSNV | - | 1/6 |
7-99223147-T-C | ZSCAN25 | c.805+1344T>C | - | IntronicSNV | - | 7/7 |
1-205685352-T-C | NUCKS1 | c.*2056A>G | - | 3-UTRSNV | 7/7 | - |
4-56262374-A-G | TMEM165 | c.18A>G | p.Pro6Pro | Synonymous | 1/6 | - |
12-122623000-T-G | MLXIP | c.2286T>G | - | synonymous_variant | 14/17 | - |
17-47132819-T-C | IGF2BP1 | c.*6013T>C | - | 3-UTRSNV | 15/15 | - |
21-47705237-T-C | MCM3AP | c.1-37A>G | - | IntergenicSNV | 1/28 | - |
16-580124-C-G | CAPN15 | c.-190+2095C>G | - | intron_variant | - | 1/13 |
16-580124-C-A | CAPN15 | c.-190+2095C>A | - | intron_variant | - | 1/13 |
7-73020337-C-G | MLXIPL | c.723G>C | p.Gln241His | Missense | 6/17 | - |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
1-204499056-A-G | MDM4 | c.154-756A>G | - | IntronicSNV | - | 3/10 |
11-64081445-G-C | ESRRA | c.348G>C | p.Pro116Pro | Synonymous | 3/7 | - |
1-214830617-A-T | CENPF | c.8827A>T | p.Arg2943* | Nonsense | 18/20 | - |
21-30706470-A-T | BACH1 | c.1776+4456A>T | - | IntronicSNV | - | 4/4 |
21-30706470-A-G | BACH1 | c.1776+4456A>G | - | IntronicSNV | - | 4/4 |
16-580229-C-G | CAPN15 | c.-190+2200C>G | - | intron_variant | - | 1/13 |
5-148888762-A-C | CSNK1A1 | c.750+680T>G | - | IntronicSNV | - | 7/9 |
2-61716924-G-A | XPO1 | c.2022+853C>T | - | IntronicSNV | - | 17/24 |
7-111180544-C-A | IMMP2L | c.1-19041G>T | - | IntronicSNV | - | 1/5 |
2-215673937-C-T | BARD1 | c.158+199G>A | - | IntronicSNV | - | 1/10 |
22-21983260-A-G | YDJC | c.602+39T>C | - | IntronicSNV | - | 4/4 |
21-40648713-C-T | BRWD1 | c.1104+464G>A | - | IntronicSNV | - | 11/40 |
11-63979643-G-T | FERMT3 | c.786+424G>T | - | IntronicSNV | - | 6/14 |
4-74319283-T-A | AFP | c.1653-199T>A | - | IntronicSNV | - | 12/14 |
4-74319283-T-G | AFP | c.1653-199T>G | - | IntronicSNV | - | 12/14 |
12-122623000-T-C | MLXIP | c.2286T>C | - | synonymous_variant | 14/17 | - |
15-89859377-A-G | FANCI | c.3745-251A>G | - | IntronicSNV | - | 36/36 |
12-103244013-G-A | PAH | c.912+1452C>T | - | IntronicSNV | - | 8/12 |
4-80947386-A-G | ANTXR2 | c.866+5391T>C | - | IntronicSNV | - | 10/16 |
4-80947386-A-C | ANTXR2 | c.866+5391T>G | - | IntronicSNV | - | 10/16 |
6-31379109-G-A | MICA | c.586G>A | p.Glu196Lys | Missense | 3/6 | - |
15-89844860-G-A | FANCI | c.2826+187G>A | - | IntronicSNV | - | 26/36 |
7-1886388-C-A | MAD1L1 | c.1999-30524G>T | - | IntronicSNV | - | 18/18 |
17-53230722-A-T | STXBP4 | c.1548-6436A>T | - | IntronicSNV | - | 17/17 |
17-53230722-A-G | STXBP4 | c.1548-6436A>G | - | IntronicSNV | - | 17/17 |
7-2789880-A-C | GNA12 | c.526-16745T>G | - | IntronicSNV | - | 2/3 |
7-2789880-A-G | GNA12 | c.526-16745T>C | - | IntronicSNV | - | 2/3 |
1-85845998-G-T | DDAH1 | c.1-21474C>A | - | IntronicSNV | - | 2/6 |
20-21135126-T-C | KIZ | c.406-7386T>C | - | IntronicSNV | - | 4/13 |
6-71278101-T-A | SDHAF4 | c.64+1394T>A | - | IntronicSNV | - | 1/2 |
6-71278101-T-C | SDHAF4 | c.64+1394T>C | - | IntronicSNV | - | 1/2 |
8-28791159-G-A | HMBOX1 | c.1-30226G>A | - | IntronicSNV | - | 2/10 |
8-144917790-A-G | NRBP2 | c.*42T>C | - | 3-UTRSNV | 18/18 | - |
6-11008622-G-C | ELOVL2 | c.67+2357C>G | - | IntronicSNV | - | 2/7 |
2-188345017-G-A | TFPI | c.628+3834C>T | - | IntronicSNV | - | 6/7 |
6-30893127-G-A | VARS2 | c.2750G>A | p.Arg917Gln | Missense | 27/30 | - |
12-66331365-G-C | HMGA2 | c.250-13798G>C | - | IntronicSNV | - | 3/4 |
11-118619047-T-G | DDX6 | c.*3767A>C | - | 3_prime_UTR_variant | 14/14 | - |
1-8759554-T-C | RERE | c.1-43198A>G | - | IntronicSNV | - | 1/22 |
3-136288405-G-A | STAG1 | c.298-702C>T | - | IntronicSNV | - | 4/33 |
15-56387859-T-C | RFX7 | c.2067A>G | p.Lys689Lys | Synonymous | 10/10 | - |
21-44478680-T-C | CBS | c.1358+264A>G | - | IntronicSNV | - | 14/16 |
6-30152789-C-T | TRIM26 | c.*864G>A | - | 3-UTRSNV | 10/10 | - |
1-115047484-A-G | TRIM33 | c.526+5688T>C | - | IntronicSNV | - | 1/19 |
3-65466168-G-A | MAGI1 | c.551-1695C>T | - | IntronicSNV | - | 3/22 |
3-65466168-G-C | MAGI1 | c.551-1695C>G | - | IntronicSNV | - | 3/22 |
1-249143646-G-T | ZNF672 | c.*814G>T | - | 3-UTRSNV | 4/4 | - |
7-123388732-G-T | WASL | c.57C>A | p.Ser19Ser | Synonymous | 1/11 | - |
11-27516789-C-G | LIN7C | c.*3407G>C | - | 3-UTRSNV | 5/5 | - |
16-53326860-G-A | CHD9 | c.5406G>A | p.Gln1802Gln | Synonymous | 29/39 | - |
7-138191656-G-C | TRIM24 | c.483+2503G>C | - | IntronicSNV | - | 2/18 |
7-138191656-G-A | TRIM24 | c.483+2503G>A | - | IntronicSNV | - | 2/18 |
22-22146399-A-G | MAPK1 | c.610-3302T>C | - | IntronicSNV | - | 4/8 |
15-79235446-T-C | CTSH | c.91+1787A>G | - | IntronicSNV | - | 1/11 |
19-13024250-A-T | SYCE2 | c.131+4786T>A | - | IntronicSNV | - | 2/5 |
19-13024250-A-C | SYCE2 | c.131+4786T>G | - | IntronicSNV | - | 2/5 |
3-30684097-G-A | TGFBR2 | c.170-2142G>A | - | IntronicSNV | - | 2/7 |
17-74381567-G-A | SPHK1 | c.1-159G>A | - | 5-UTRSNV | 2/6 | - |
6-31118019-T-C | CCHCR1 | c.946-27A>G | - | IntronicSNV | - | 7/17 |
4-80949829-C-G | ANTXR2 | c.866+2948G>C | - | IntronicSNV | - | 10/16 |
4-80949829-C-T | ANTXR2 | c.866+2948G>A | - | IntronicSNV | - | 10/16 |
11-31663882-A-T | ELP4 | c.928-5407A>T | - | IntronicSNV | - | 7/9 |
3-56628031-G-T | CCDC66 | c.1277G>T | p.Arg426Leu | Missense | 10/18 | - |
3-56628031-G-A | CCDC66 | c.1277G>A | p.Arg426Gln | Missense | 10/18 | - |
20-34252654-A-G | RBM12 | c.-108+28T>C | - | intron_variant | - | 1/2 |
1-115047549-G-A | TRIM33 | c.526+5623C>T | - | IntronicSNV | - | 1/19 |
2-188343497-T-G | TFPI | c.628+5354A>C | - | IntronicSNV | - | 6/7 |
2-188343497-T-C | TFPI | c.628+5354A>G | - | IntronicSNV | - | 6/7 |
14-24609147-T-C | EMC9 | c.276-324A>G | - | IntronicSNV | - | 3/5 |
16-68353664-G-A | PRMT7 | c.96-1665G>A | - | IntronicSNV | - | 3/18 |
16-68353664-G-C | PRMT7 | c.96-1665G>C | - | IntronicSNV | - | 3/18 |
6-31602967-G-A | PRRC2A | c.5219G>A | p.Arg1740His | Missense | 22/31 | - |
3-49719729-G-T | APEH | c.1604-52G>T | - | IntronicSNV | - | 17/21 |
6-17665479-G-C | NUP153 | c.1206C>G | p.Asn402Lys | Missense | 9/23 | - |
13-99167654-A-C | STK24 | c.309+3843T>G | - | IntronicSNV | - | 2/10 |
4-74275821-A-G | ALB | c.616-208A>G | - | IntronicSNV | - | 5/14 |
20-33907161-T-C | UQCC1 | c.574-4593A>G | - | IntronicSNV | - | 7/9 |
5-74636484-C-A | HMGCR | c.1-1947C>A | - | IntronicSNV | - | 1/19 |
4-170626552-T-A | CLCN3 | c.1669+1217T>A | - | IntronicSNV | - | 9/11 |
8-145742879-T-C | RECQL4 | c.132A>G | p.Glu44Glu | Synonymous | 3/22 | - |
11-102070639-A-G | YAP1 | c.689-5985A>G | - | IntronicSNV | - | 3/6 |
11-64048912-C-T | BAD | c.187+2742G>A | - | IntronicSNV | - | 2/3 |
2-198285554-C-T | SF3B1 | c.300+199G>A | - | IntronicSNV | - | 3/4 |
7-103627369-A-C | RELN | c.226+2209T>G | - | IntronicSNV | - | 1/64 |
12-11183217-C-T | TAS2R31 | c.718G>A | p.Val240Ile | Missense | 1/1 | - |
2-198285554-C-G | SF3B1 | c.300+199G>C | - | IntronicSNV | - | 3/4 |
2-11723021-C-T | GREB1 | c.901+2063C>T | - | IntronicSNV | - | 7/32 |
7-89997020-T-C | GTPBP10 | c.465-4449T>C | - | IntronicSNV | - | 4/9 |
7-89997020-T-A | GTPBP10 | c.465-4449T>A | - | IntronicSNV | - | 4/9 |
7-1888185-A-G | MAD1L1 | c.1999-32321T>C | - | IntronicSNV | - | 18/18 |
2-242269024-A-G | SEPT2 | c.130+3496A>G | - | IntronicSNV | - | 3/12 |
1-21339644-A-G | EIF4G3 | c.1-10409T>C | - | IntronicSNV | - | 2/31 |
10-65337153-T-G | REEP3 | c.105+10983T>G | - | IntronicSNV | - | 2/7 |
1-158626378-C-T | SPTA1 | c.2874G>A | p.Leu958Leu | Synonymous | 20/52 | - |
10-65337153-T-C | REEP3 | c.105+10983T>C | - | IntronicSNV | - | 2/7 |
5-96112083-T-A | ERAP1 | c.2818+25A>T | - | IntronicSNV | - | 19/19 |
5-96112083-T-G | ERAP1 | c.2818+25A>C | - | IntronicSNV | - | 19/19 |
2-85769711-C-T | MAT2A | c.792C>T | p.Arg264Arg | Synonymous | 7/9 | - |
2-85769711-C-G | MAT2A | c.792C>G | p.Arg264Arg | Synonymous | 7/9 | - |
12-46353279-C-T | SCAF11 | c.219+2204G>A | - | IntronicSNV | - | 3/14 |
20-32588095-T-G | RALY | c.-93+6158T>G | - | intron_variant | - | 1/8 |
2-201185919-C-G | SPATS2L | c.-72-8235C>G | - | intron_variant | - | 1/12 |
2-48602252-C-T | FOXN2 | c.966C>T | p.Ser322Ser | Synonymous | 7/7 | - |
20-32588095-T-C | RALY | c.-93+6158T>C | - | intron_variant | - | 1/8 |
6-31116210-G-A | CCHCR1 | c.1285C>T | p.Leu429Leu | Synonymous | 10/18 | - |
5-36884166-A-G | NIPBL | c.-80+6886A>G | - | intron_variant | - | 1/45 |
12-66351826-T-C | HMGA2 | c.283-5199T>C | - | IntronicSNV | - | 4/4 |
20-57475191-A-G | GNAS | c.257+1151A>G | - | IntronicSNV | - | 3/12 |
8-92082663-A-G | OTUD6B | c.141A>G | p.Arg47Arg | Synonymous | 2/7 | - |
1-8424039-C-T | RERE | c.1740+77G>A | - | IntronicSNV | - | 15/22 |
4-1719620-T-G | TMEM129 | c.680+259A>C | - | IntronicSNV | - | 2/2 |
17-2262703-C-A | SGSM2 | c.134-2228C>A | - | IntronicSNV | - | 2/23 |
1-145442264-T-A | TXNIP | c.*1045T>A | - | 3_prime_UTR_variant | 8/8 | - |
1-145442264-T-G | TXNIP | c.*1045T>G | - | 3_prime_UTR_variant | 8/8 | - |
21-38740824-A-G | DYRK1A | c.-77+2688A>G | - | intron_variant | - | 1/11 |
17-79596811-C-T | NPLOC4 | c.36G>A | p.Pro12Pro | Synonymous | 2/17 | - |
6-31378977-G-A | MICA | c.454G>A | p.Val152Met | Missense | 3/6 | - |
2-63149557-G-A | EHBP1 | c.1291-20296G>A | - | IntronicSNV | - | 11/24 |
2-188333064-G-A | TFPI | c.629-405C>T | - | IntronicSNV | - | 6/7 |
2-242260340-G-T | SEPT2 | c.1-3308G>T | - | IntronicSNV | - | 1/12 |
2-242260340-G-C | SEPT2 | c.1-3308G>C | - | IntronicSNV | - | 1/12 |
11-31515340-G-A | IMMP1L | c.-93+15726C>T | - | intron_variant | - | 1/6 |
5-95256974-T-C | ELL2 | c.196-1725A>G | - | IntronicSNV | - | 2/11 |
1-183114634-G-A | LAMC1 | c.*2709G>A | - | 3-UTRSNV | 28/28 | - |
1-8658712-T-C | RERE | c.522+15908A>G | - | IntronicSNV | - | 4/22 |
6-29910378-C-T | HLA-A | c.48C>T | p.Ala16Ala | Synonymous | 1/8 | - |
16-68088485-A-G | DUS2 | c.273A>G | p.Ser91Ser | Synonymous | 6/17 | - |
15-75136694-T-C | SCAMP2 | c.*730A>G | - | IntergenicSNV | 9/9 | - |
2-190636411-C-G | ORMDL1 | c.*82G>C | - | 3-UTRSNV | 5/5 | - |
17-20919705-G-A | USP22 | c.691-493C>T | - | IntronicSNV | - | 5/12 |
1-8416957-G-T | RERE | c.4340-651C>A | - | IntronicSNV | - | 20/22 |
15-75334184-T-C | PPCDC | c.136-1598T>C | - | IntronicSNV | - | 2/5 |
6-31238318-G-C | HLA-C | c.620-56C>G | - | IntronicSNV | - | 3/7 |
6-31238318-G-A | HLA-C | c.620-56C>T | - | IntronicSNV | - | 3/7 |
5-428236-C-A | AHRR | c.974+115C>A | - | IntronicSNV | - | 9/11 |
5-150440097-G-A | TNIP1 | c.358-141C>T | - | IntronicSNV | - | 4/17 |
17-79596811-C-A | NPLOC4 | c.36G>T | p.Pro12Pro | Synonymous | 2/17 | - |
20-48600557-T-C | SNAI1 | c.279T>C | p.Asp93Asp | Synonymous | 2/3 | - |
20-48600557-T-G | SNAI1 | c.279T>G | p.Asp93Glu | Missense | 2/3 | - |
2-71633389-C-G | ZNF638 | c.3132C>G | p.Asn1044Lys | Missense | 19/28 | - |
2-71633389-C-T | ZNF638 | c.3132C>T | p.Asn1044Asn | Synonymous | 19/28 | - |
3-52567014-G-T | NT5DC2 | c.121+1535C>A | - | IntronicSNV | - | 1/13 |
1-95662658-G-C | TMEM56-RWDD3 | c.473+23213G>C | - | IntronicSNV | - | 6/7 |
2-148784324-C-T | MBD5 | c.-925+5071C>T | - | intron_variant | - | 2/14 |
1-183114634-G-T | LAMC1 | c.*2709G>T | - | 3-UTRSNV | 28/28 | - |
1-8658712-T-G | RERE | c.522+15908A>C | - | IntronicSNV | - | 4/22 |
6-47542864-C-T | CD2AP | c.729+877C>T | - | IntronicSNV | - | 6/17 |
10-7887621-G-A | TAF3 | c.409+21098G>A | - | IntronicSNV | - | 2/6 |
20-47881967-C-T | ZNFX1 | c.2003-566G>A | - | IntronicSNV | - | 4/13 |
10-65318766-G-T | REEP3 | c.33-7332G>T | - | IntronicSNV | - | 1/7 |
10-13361976-A-G | SEPHS1 | c.965-620T>C | - | IntronicSNV | - | 8/8 |
10-114767771-G-A | TCF7L2 | c.382-32013G>A | - | IntronicSNV | - | 3/13 |
1-207927153-T-C | CD46 | c.97+1499T>C | - | IntronicSNV | - | 1/9 |
17-47132819-T-A | IGF2BP1 | c.*6013T>A | - | 3-UTRSNV | 15/15 | - |
16-28617128-T-C | SULT1A1 | c.*14A>G | - | 3-UTRSNV | 8/8 | - |
3-52325759-A-G | GLYCTK | c.530-4A>G | - | IntronicSNV | - | 3/4 |
5-137892170-G-A | HSPA9 | c.1933C>T | p.Leu645Leu | Synonymous | 16/17 | - |
6-32127477-C-A | PPT2 | c.728+1776C>A | - | IntronicSNV | - | 7/8 |
1-183094547-T-C | LAMC1 | c.2663T>C | p.Leu888Pro | Missense | 15/28 | - |
19-10475652-C-A | TYK2 | c.1084G>T | p.Val362Phe | Missense | 8/25 | - |
20-47686290-G-A | CSE1L | c.676-452G>A | - | IntronicSNV | - | 7/24 |
18-56402795-A-G | MALT1 | c.1603+234A>G | - | IntronicSNV | - | 13/16 |
17-76375095-A-G | PGS1 | c.143+206A>G | - | IntronicSNV | - | 1/9 |
2-69974873-C-A | ANXA4 | c.-47+5566C>A | - | intron_variant | - | 1/12 |
8-17820714-A-T | PCM1 | c.2568A>T | p.Leu856Leu | Synonymous | 17/39 | - |
15-42072530-C-G | MAPKBP1 | c.114+4943C>G | - | IntronicSNV | - | 2/30 |
4-74275821-A-T | ALB | c.616-208A>T | - | IntronicSNV | - | 5/14 |
2-11736037-A-T | GREB1 | c.1826-200A>T | - | IntronicSNV | - | 12/32 |
1-155944189-T-G | ARHGEF2 | c.-19+3669A>C | - | intron_variant | - | 1/21 |
6-30313340-G-C | TRIM39-RPP21 | c.1278G>C | p.Gln426His | Missense | 8/10 | - |
4-1701317-G-A | SLBP | c.453C>T | p.Tyr151Tyr | Synonymous | 5/8 | - |
20-25241295-A-G | PYGB | c.345+1321A>G | - | IntronicSNV | - | 2/19 |
1-109929237-G-A | SORT1 | c.306+10972C>T | - | IntronicSNV | - | 1/19 |
22-22212469-T-A | MAPK1 | c.119+9143A>T | - | IntronicSNV | - | 1/8 |
22-22212469-T-C | MAPK1 | c.119+9143A>G | - | IntronicSNV | - | 1/8 |
4-18017730-T-C | LCORL | c.154+5491A>G | - | IntronicSNV | - | 1/6 |
3-52720080-A-C | GNL3 | c.1-29A>C | - | 5-UTRSNV | 1/15 | - |
19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
21-44482936-C-T | CBS | c.954+127G>A | - | IntronicSNV | - | 10/16 |
21-40714646-A-G | HMGN1 | c.*392T>C | - | 3-UTRSNV | 6/6 | - |
6-41536427-C-T | FOXP4 | c.204+2725C>T | - | IntronicSNV | - | 2/16 |
9-107588777-C-T | ABCA1 | c.2337+452G>A | - | IntronicSNV | - | 16/49 |
13-40239785-G-T | COG6 | c.428+494G>T | - | IntronicSNV | - | 4/18 |
20-34383634-A-G | PHF20 | c.1-5811A>G | - | IntronicSNV | - | 1/17 |
11-86860509-G-A | TMEM135 | c.397-7874G>A | - | IntronicSNV | - | 4/14 |
2-11736037-A-G | GREB1 | c.1826-200A>G | - | IntronicSNV | - | 12/32 |
2-11736037-A-C | GREB1 | c.1826-200A>C | - | IntronicSNV | - | 12/32 |
18-44664304-G-A | HDHD2 | c.1-1494C>T | - | IntronicSNV | - | 1/6 |
15-99282558-A-T | IGF1R | c.640+31222A>T | - | IntronicSNV | - | 2/20 |
4-1236502-C-G | CTBP1 | c.41-4377G>C | - | IntronicSNV | - | 1/8 |
6-30867106-C-T | DDR1 | c.*33C>T | - | 3-UTRSNV | 17/17 | - |
7-106777203-T-G | PRKAR2B | c.481-4089T>G | - | IntronicSNV | - | 4/10 |
8-38031345-A-G | LSM1 | c.47-1794T>C | - | IntronicSNV | - | 1/3 |
1-169446183-A-G | SLC19A2 | c.807+210T>C | - | IntronicSNV | - | 2/5 |
2-239349362-G-A | ASB1 | c.495-3621G>A | - | IntronicSNV | - | 3/4 |
15-89868256-A-C | POLG | c.1949+425T>G | - | IntronicSNV | - | 10/22 |
17-53369594-A-G | HLF | c.452-22994A>G | - | IntronicSNV | - | 2/3 |
19-34766588-G-A | KIAA0355 | c.-796+21069G>A | - | intron_variant | - | 1/13 |
3-52720080-A-T | GNL3 | c.1-29A>T | - | 5-UTRSNV | 1/15 | - |
3-52720080-A-G | GNL3 | c.1-29A>G | - | 5-UTRSNV | 1/15 | - |
3-48464503-C-T | PLXNB1 | c.1108-147G>A | - | IntronicSNV | - | 3/37 |
7-92244422-C-T | CDK6 | c.*32G>A | - | 3-UTRSNV | 8/8 | - |
7-89986525-A-G | GTPBP10 | c.464+1981A>G | - | IntronicSNV | - | 4/9 |
7-89986525-A-C | GTPBP10 | c.464+1981A>C | - | IntronicSNV | - | 4/9 |
17-56584508-T-C | MTMR4 | c.838A>G | p.Ser280Gly | Missense | 9/19 | - |
16-67981896-A-G | SLC12A4 | c.1847+68T>C | - | IntronicSNV | - | 14/23 |
10-21830104-A-G | MLLT10 | c.240+2263A>G | - | IntronicSNV | - | 3/22 |
15-99284680-G-A | IGF1R | c.640+33344G>A | - | IntronicSNV | - | 2/20 |
6-5260936-A-C | LYRM4 | c.31T>G | p.Ser11Ala | Missense | 1/3 | - |
16-68331890-G-A | SLC7A6 | c.*659G>A | - | 3-UTRSNV | 11/11 | - |
8-19819724-C-G | LPL | c.1421C>G | p.Ser474* | Nonsense | 9/10 | - |
3-38442490-G-A | XYLB | c.1533+14G>A | - | IntronicSNV | - | 18/18 |
17-53372566-G-T | HLF | c.452-20022G>T | - | IntronicSNV | - | 2/3 |
5-95278679-G-C | ELL2 | c.195+27C>G | - | IntronicSNV | - | 2/11 |
1-155947875-A-G | ARHGEF2 | c.-36T>C | - | 5_prime_UTR_variant | 1/22 | - |
5-131714409-C-T | SLC22A5 | c.497+236C>T | - | IntronicSNV | - | 2/9 |
1-6279370-G-C | RNF207 | c.1808G>C | p.Gly603Ala | Missense | 18/18 | - |
1-207940853-T-A | CD46 | c.856+313T>A | - | IntronicSNV | - | 6/9 |
2-27815510-A-T | ZNF512 | c.90-5424A>T | - | IntronicSNV | - | 2/13 |
7-72934510-A-G | BAZ1B | c.107+1647T>C | - | IntronicSNV | - | 1/19 |
1-26609259-C-T | UBXN11 | c.1074G>A | p.Thr358Thr | Synonymous | 14/15 | - |
2-27815510-A-C | ZNF512 | c.90-5424A>C | - | IntronicSNV | - | 2/13 |
10-81114813-C-G | PPIF | c.*1215C>G | - | 3-UTRSNV | 6/6 | - |
7-2822986-T-A | GNA12 | c.525+11576A>T | - | IntronicSNV | - | 2/3 |
7-2822986-T-C | GNA12 | c.525+11576A>G | - | IntronicSNV | - | 2/3 |
3-50242765-C-G | SLC38A3 | c.-68C>G | - | 5_prime_UTR_variant | 1/16 | - |
1-153906397-A-T | DENND4B | c.2942-50T>A | - | IntronicSNV | - | 19/27 |
6-111695268-C-G | REV3L | c.4290G>C | p.Val1430Val | Synonymous | 14/33 | - |
17-2266799-G-T | SGSM2 | c.713G>T | p.Arg238Met | Missense | 7/24 | - |
17-2266799-G-C | SGSM2 | c.713G>C | p.Arg238Thr | Missense | 7/24 | - |
17-2266799-G-A | SGSM2 | c.713G>A | p.Arg238Lys | Missense | 7/24 | - |
1-153906397-A-G | DENND4B | c.2942-50T>C | - | IntronicSNV | - | 19/27 |
10-46013277-A-C | MARCH8 | c.102+15281T>G | - | IntronicSNV | - | 2/6 |
20-25278261-A-C | PYGB | c.*1103A>C | - | 3-UTRSNV | 20/20 | - |
1-93174215-T-C | EVI5 | c.282-3914A>G | - | IntronicSNV | - | 2/17 |
15-66070693-C-A | DENND4A | c.-95+13655G>T | - | intron_variant | - | 1/31 |
20-21142523-C-G | KIZ | c.417C>G | p.His139Gln | Missense | 5/14 | - |
20-21142523-C-A | KIZ | c.417C>A | p.His139Gln | Missense | 5/14 | - |
6-31843924-C-T | SLC44A4 | c.90-18G>A | - | IntronicSNV | - | 2/19 |
2-161171454-T-C | RBMS1 | c.311-1696A>G | - | IntronicSNV | - | 3/13 |
6-167442995-C-G | FGFR1OP | c.988+2892C>G | - | IntronicSNV | - | 10/12 |
1-29244451-G-A | EPB41 | c.-715+30729G>A | - | intron_variant | - | 1/20 |
2-61596180-A-G | USP34 | c.1251+1276T>C | - | IntronicSNV | - | 10/79 |
1-155940948-T-G | ARHGEF2 | c.1-1875A>C | - | IntronicSNV | - | 1/21 |
5-122685128-A-G | CEP120 | c.2726+510T>C | - | IntronicSNV | - | 20/20 |
11-27517670-T-A | LIN7C | c.*2526A>T | - | 3-UTRSNV | 5/5 | - |
11-27517670-T-C | LIN7C | c.*2526A>G | - | 3-UTRSNV | 5/5 | - |
1-155878732-A-G | RIT1 | c.163+1509T>C | - | IntronicSNV | - | 3/5 |
12-58145156-C-G | CDK4 | c.219-31G>C | - | IntronicSNV | - | 2/7 |
12-58145156-C-T | CDK4 | c.219-31G>A | - | IntronicSNV | - | 2/7 |
7-73010442-C-T | MLXIPL | c.2058+41G>A | - | IntronicSNV | - | 13/16 |
9-131910805-A-G | PTPA | c.*1062A>G | - | 3-UTRSNV | 11/11 | - |
9-131910805-A-T | PTPA | c.*1062A>T | - | 3-UTRSNV | 11/11 | - |
7-72991593-G-C | TBL2 | c.130+1157C>G | - | IntronicSNV | - | 1/6 |
7-72991593-G-A | TBL2 | c.130+1157C>T | - | IntronicSNV | - | 1/6 |
2-27840640-G-A | ZNF512 | c.1395+202G>A | - | IntronicSNV | - | 13/13 |
5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
2-61647901-A-G | USP34 | c.111T>C | p.Tyr37Tyr | Synonymous | 2/80 | - |
16-56969148-G-A | HERPUD1 | c.149G>A | p.Arg50His | Missense | 2/8 | - |
20-21142523-C-T | KIZ | c.417C>T | p.His139His | Synonymous | 5/14 | - |
1-109877506-A-G | SORT1 | c.1371+1356T>C | - | IntronicSNV | - | 11/19 |
19-11256176-C-T | SPC24 | c.*1683G>A | - | IntergenicSNV | 5/5 | - |
11-95992129-G-T | MAML2 | c.513+82418C>A | - | IntronicSNV | - | 1/4 |
11-95992129-G-A | MAML2 | c.513+82418C>T | - | IntronicSNV | - | 1/4 |
2-219102332-C-T | ARPC2 | c.269-1055C>T | - | IntronicSNV | - | 4/9 |
1-156260301-C-T | TMEM79 | c.972-875C>T | - | IntronicSNV | - | 3/3 |
1-29244451-G-T | EPB41 | c.-715+30729G>T | - | intron_variant | - | 1/20 |
1-8659282-T-C | RERE | c.522+15338A>G | - | IntronicSNV | - | 4/22 |
1-8659282-T-A | RERE | c.522+15338A>T | - | IntronicSNV | - | 4/22 |
5-96244549-C-T | ERAP2 | c.2013-116C>T | - | IntronicSNV | - | 13/18 |
1-8413317-A-C | RERE | c.*1830T>G | - | 3-UTRSNV | 23/23 | - |
17-64324384-C-T | PRKCA | c.205+22139C>T | - | IntronicSNV | - | 2/16 |
17-41845824-G-A | DUSP3 | c.*1153C>T | - | 3-UTRSNV | 3/3 | - |
2-27840640-G-C | ZNF512 | c.1395+202G>C | - | IntronicSNV | - | 13/13 |
19-11230881-T-C | LDLR | c.1959T>C | p.Val653Val | Synonymous | 13/18 | - |
15-66070693-C-T | DENND4A | c.-95+13655G>A | - | intron_variant | - | 1/31 |
1-109946882-T-A | PSMA5 | c.649-2170A>T | - | IntronicSNV | - | 8/8 |
19-11243735-C-T | LDLR | c.*1743C>T | - | 3-UTRSNV | 18/18 | - |
18-44675462-G-T | HDHD2 | c.-11+1287C>A | - | intron_variant | - | 1/6 |
6-31600851-G-T | PRRC2A | c.4319+82G>T | - | IntronicSNV | - | 16/30 |
1-113193364-G-A | CAPZA1 | c.155+1273G>A | - | IntronicSNV | - | 3/9 |
8-117762990-G-T | EIF3H | c.132+4915C>A | - | IntronicSNV | - | 1/7 |
8-117762990-G-A | EIF3H | c.132+4915C>T | - | IntronicSNV | - | 1/7 |
1-155939164-C-T | ARHGEF2 | c.1-91G>A | - | IntronicSNV | 1/22 | - |
4-74285239-C-G | ALB | c.1668C>G | p.Leu556Leu | Synonymous | 13/15 | - |
16-11189888-T-C | CLEC16A | c.2117-24584T>C | - | IntronicSNV | - | 19/23 |
11-77930138-T-C | GAB2 | c.*180A>G | - | 3-UTRSNV | 10/10 | - |
7-72864869-A-G | BAZ1B | c.3580+308T>C | - | IntronicSNV | - | 14/19 |
13-25009441-C-G | PARP4 | c.3838G>C | p.Gly1280Arg | Missense | 31/34 | - |
4-74277360-G-T | ALB | c.714-353G>T | - | IntronicSNV | - | 6/14 |
4-74277360-G-C | ALB | c.714-353G>C | - | IntronicSNV | - | 6/14 |
13-25009441-C-A | PARP4 | c.3838G>T | p.Gly1280Cys | Missense | 31/34 | - |
11-78128797-C-T | GAB2 | c.1-31G>A | - | 5-UTRSNV | 1/10 | - |
13-25014523-G-A | PARP4 | c.3666+1461C>T | - | IntronicSNV | - | 30/33 |
5-179168097-T-C | MAML1 | c.315+7669T>C | - | IntronicSNV | - | 1/4 |
8-22262321-T-C | SLC39A14 | c.98T>C | p.Leu33Pro | Missense | 2/9 | - |
2-40001014-G-T | THUMPD2 | c.127-2234C>A | - | IntronicSNV | - | 1/9 |
11-68347870-A-G | PPP6R3 | c.1392+4359A>G | - | IntronicSNV | - | 14/22 |
19-55527189-G-T | GP6 | c.725-88C>A | - | IntronicSNV | - | 6/7 |
21-40683459-C-T | BRWD1 | c.198+1308G>A | - | IntronicSNV | - | 4/40 |
13-25010544-T-A | PARP4 | c.3667-932A>T | - | IntronicSNV | - | 30/33 |
2-68479576-G-A | PPP3R1 | c.1-317C>T | - | 5-UTRSNV | 1/6 | - |
9-133762590-G-A | ABL1 | c.*1520G>A | - | 3-UTRSNV | 11/11 | - |
8-15530768-C-T | TUSC3 | c.709-488C>T | - | IntronicSNV | - | 5/10 |
5-74655726-C-T | HMGCR | c.2458-84C>T | - | IntronicSNV | - | 18/19 |
20-21150633-T-C | KIZ | c.1352+6833T>C | - | IntronicSNV | - | 6/13 |
3-52725771-G-T | GNL3 | c.869+126G>T | - | IntronicSNV | - | 9/14 |
3-30679970-C-A | TGFBR2 | c.170-6269C>A | - | IntronicSNV | - | 2/7 |
22-22120452-T-C | MAPK1 | c.*3041A>G | - | IntronicSNV | 9/9 | - |
21-40669083-G-T | BRWD1 | c.350-794C>A | - | IntronicSNV | - | 5/40 |
6-10982359-G-A | ELOVL2 | c.*1655C>T | - | 3-UTRSNV | 8/8 | - |
1-115047484-A-C | TRIM33 | c.526+5688T>G | - | IntronicSNV | - | 1/19 |
16-28836205-T-C | ATXN2L | c.300-482T>C | - | IntronicSNV | - | 1/21 |
6-41517564-G-C | FOXP4 | c.-17+2959G>C | - | intron_variant | - | 1/16 |
6-41517564-G-A | FOXP4 | c.-17+2959G>A | - | intron_variant | - | 1/16 |
16-52575907-A-G | TOX3 | c.87+4642T>C | - | IntronicSNV | - | 1/6 |
3-49721532-G-A | MST1 | c.2107C>T | p.Arg703Cys | Missense | 18/18 | - |
4-6883012-C-T | KIAA0232 | c.*319C>T | - | 3-UTRSNV | 10/10 | - |
6-34824636-A-T | UHRF1BP1 | c.1361A>T | p.Gln454Leu | Missense | 11/21 | - |
20-33619480-A-T | TRPC4AP | c.1051+3446T>A | - | IntronicSNV | - | 8/18 |
1-153779412-A-G | GATAD2B | c.*3241T>C | - | 3-UTRSNV | 11/11 | - |
1-29508350-C-T | SRSF4 | c.1-86G>A | - | 5-UTRSNV | 1/6 | - |
15-66064183-C-T | DENND4A | c.-94-10407G>A | - | intron_variant | - | 1/31 |
12-48518264-A-C | PFKM | c.85+1622A>C | - | IntronicSNV | - | 2/22 |
21-40627325-C-A | BRWD1 | c.2255+246G>T | - | IntronicSNV | - | 19/40 |
6-131926334-C-T | MED23 | c.1613+46G>A | - | IntronicSNV | - | 14/29 |
1-231172810-A-G | FAM89A | c.291+2857T>C | - | IntronicSNV | - | 1/1 |
1-231172810-A-C | FAM89A | c.291+2857T>G | - | IntronicSNV | - | 1/1 |
2-105882761-G-A | TGFBRAP1 | c.*1079C>T | - | IntergenicSNV | 12/12 | - |
5-115512352-G-A | COMMD10 | c.510+42477G>A | - | IntronicSNV | - | 5/6 |
15-91425232-C-T | FURIN | c.*124C>T | - | 3-UTRSNV | 16/16 | - |
5-95261538-C-G | ELL2 | c.196-6289G>C | - | IntronicSNV | - | 2/11 |
3-53857803-A-C | CHDH | c.233T>G | p.Leu78Arg | Missense | 3/9 | - |
21-44487404-T-C | CBS | c.317-917A>G | - | IntronicSNV | - | 4/16 |
10-81110417-G-C | PPIF | c.316-826G>C | - | IntronicSNV | - | 3/5 |
20-33619480-A-C | TRPC4AP | c.1051+3446T>G | - | IntronicSNV | - | 8/18 |
17-53372566-G-C | HLF | c.452-20022G>C | - | IntronicSNV | - | 2/3 |
10-81114060-G-A | PPIF | c.*462G>A | - | 3-UTRSNV | 6/6 | - |
17-38179492-A-G | MED24 | c.2142T>C | p.Ile714Ile | Synonymous | 20/26 | - |
21-40627325-C-G | BRWD1 | c.2255+246G>C | - | IntronicSNV | - | 19/40 |
19-1413078-A-G | DAZAP1 | c.30-4421A>G | - | IntronicSNV | - | 1/12 |
5-95278019-A-G | ELL2 | c.195+687T>C | - | IntronicSNV | - | 2/11 |
7-92248076-C-T | CDK6 | c.699-555G>A | - | IntronicSNV | - | 6/7 |
1-59139223-C-G | MYSM1 | c.1572+22G>C | - | IntronicSNV | - | 11/19 |
8-8888948-A-G | ERI1 | c.*1404A>G | - | 3-UTRSNV | 7/7 | - |
7-106777203-T-C | PRKAR2B | c.481-4089T>C | - | IntronicSNV | - | 4/10 |
17-47084711-G-C | IGF2BP1 | c.236+8180G>C | - | IntronicSNV | - | 2/14 |
17-47084711-G-A | IGF2BP1 | c.236+8180G>A | - | IntronicSNV | - | 2/14 |
16-579900-A-G | CAPN15 | c.-190+1871A>G | - | intron_variant | - | 1/13 |
16-71965196-C-A | PKD1L3 | c.4921-1110G>T | - | intron_variant | - | 29/30 |
10-46024729-A-G | MARCH8 | c.102+3829T>C | - | IntronicSNV | - | 2/6 |
2-27599132-G-A | SNX17 | c.1183-48G>A | - | IntronicSNV | - | 12/14 |
15-91426560-G-C | FURIN | c.*1452G>C | - | 3-UTRSNV | 16/16 | - |
15-91426560-G-A | FURIN | c.*1452G>A | - | 3-UTRSNV | 16/16 | - |
6-33659472-C-G | ITPR3 | c.7306C>G | p.Leu2436Val | Missense | 53/58 | - |
16-11158885-G-A | CLEC16A | c.2116+4006G>A | - | IntronicSNV | - | 19/23 |
5-664084-G-A | TPPP | c.*1133C>T | - | 3-UTRSNV | 4/4 | - |
16-11158885-G-T | CLEC16A | c.2116+4006G>T | - | IntronicSNV | - | 19/23 |
6-31382911-A-G | MICA | c.*152A>G | - | 3_prime_UTR_variant | 6/6 | - |
12-103246261-A-G | PAH | c.842+332T>C | - | IntronicSNV | - | 7/12 |
11-69462910-G-A | CCND1 | c.723G>A | p.Pro241Pro | Synonymous | 4/5 | - |
1-25169634-A-G | CLIC4 | c.*2206A>G | - | 3-UTRSNV | 6/6 | - |
17-27814496-C-T | TAOK1 | c.656-2186C>T | - | IntronicSNV | - | 8/19 |
20-48522330-G-A | SPATA2 | c.1389C>T | p.Cys463Cys | Synonymous | 3/3 | - |
11-17395540-T-C | NCR3LG1 | c.*1481T>C | - | 3-UTRSNV | 5/5 | - |
11-17395540-T-A | NCR3LG1 | c.*1481T>A | - | 3-UTRSNV | 5/5 | - |
17-39962288-C-T | P3H4 | c.1146+760G>A | - | IntronicSNV | - | 6/7 |
19-11242307-G-C | LDLR | c.*315G>C | - | 3-UTRSNV | 18/18 | - |
6-31861141-A-T | EHMT2 | c.583-454T>A | - | IntronicSNV | - | 4/27 |
1-2184280-T-C | SKI | c.969+23106T>C | - | IntronicSNV | - | 1/6 |
12-123466111-C-T | ARL6IP4 | c.713-7C>T | - | IntronicSNV | - | 2/5 |
7-150667210-C-T | KCNH2 | c.307+4589G>A | - | IntronicSNV | - | 2/14 |
5-131721174-A-G | SLC22A5 | c.807A>G | p.Leu269Leu | Synonymous | 4/10 | - |
10-114754071-T-C | TCF7L2 | c.381+42705T>C | - | IntronicSNV | - | 3/13 |
7-123370710-A-G | WASL | c.117+17962T>C | - | IntronicSNV | - | 1/10 |
9-133755528-A-G | ABL1 | c.1554A>G | p.Glu518Glu | Synonymous | 9/11 | - |
3-114353168-G-T | ZBTB20 | c.-350+59207C>A | - | intron_variant | - | 5/9 |
3-114353168-G-A | ZBTB20 | c.-350+59207C>T | - | intron_variant | - | 5/9 |
13-28197436-C-T | POLR1D | c.*49C>T | - | 3-UTRSNV | 2/2 | - |
6-34759954-A-G | UHRF1BP1 | c.1-74A>G | - | 5-UTRSNV | 1/21 | - |
11-5474486-T-C | OR51B5 | c.-360+52313A>G | - | intron_variant | - | 1/4 |
15-89844849-C-T | FANCI | c.2826+176C>T | - | IntronicSNV | - | 26/36 |
15-89844849-C-G | FANCI | c.2826+176C>G | - | IntronicSNV | - | 26/36 |
15-66048958-A-G | DENND4A | c.1-170T>C | - | IntronicSNV | 1/32 | - |
17-39962288-C-A | P3H4 | c.1146+760G>T | - | IntronicSNV | - | 6/7 |
17-39962288-C-G | P3H4 | c.1146+760G>C | - | IntronicSNV | - | 6/7 |
11-57510294-A-G | SELENOH | c.*31-41A>G | - | intron_variant | - | 3/3 |
17-74733403-G-A | SRSF2 | c.1-161C>T | - | 5-UTRSNV | 1/2 | - |
17-74733403-G-C | SRSF2 | c.1-161C>G | - | 5-UTRSNV | 1/2 | - |
9-101911656-A-G | TGFBR1 | c.*69A>G | - | 3-UTRSNV | 8/8 | - |
8-109225725-G-A | EIF3E | c.1061+1111C>T | - | IntronicSNV | - | 10/12 |
15-89804043-C-T | FANCI | c.257C>T | p.Ala86Val | Missense | 4/37 | - |
15-89804043-C-G | FANCI | c.257C>G | p.Ala86Gly | Missense | 4/37 | - |
12-112843998-A-T | RPL6 | c.529+100T>A | - | IntronicSNV | - | 5/6 |
12-112843998-A-G | RPL6 | c.529+100T>C | - | IntronicSNV | - | 5/6 |
6-31598489-A-G | PRRC2A | c.2376A>G | p.Val792Val | Synonymous | 15/31 | - |
21-44475786-C-T | CBS | c.1552+1127G>A | - | IntronicSNV | - | 16/16 |
5-115511870-A-G | COMMD10 | c.510+41995A>G | - | IntronicSNV | - | 5/6 |
6-42932202-C-T | PEX6 | c.2814G>A | p.Glu938Glu | Synonymous | 17/17 | - |
1-205683355-T-A | NUCKS1 | c.*4053A>T | - | 3-UTRSNV | 7/7 | - |
1-113163042-C-A | CAPZA1 | c.39+537C>A | - | IntronicSNV | - | 1/9 |
4-95129238-T-C | SMARCAD1 | c.-50+17T>C | - | intron_variant | - | 1/23 |
20-25277244-A-G | PYGB | c.*86A>G | - | 3-UTRSNV | 20/20 | - |
15-56382295-A-G | RFX7 | c.*3248T>C | - | IntergenicSNV | 10/10 | - |
17-38066240-T-C | GSDMB | c.408-63A>G | - | IntronicSNV | - | 2/7 |
11-66050712-G-A | CNIH2 | c.312-7G>A | - | IntronicSNV | - | 4/5 |
11-66050712-G-C | CNIH2 | c.312-7G>C | - | IntronicSNV | - | 4/5 |
20-21146816-A-G | KIZ | c.1352+3016A>G | - | IntronicSNV | - | 6/13 |
1-111417915-C-A | CD53 | c.-18+2045C>A | - | intron_variant | - | 1/7 |