Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-232086153-G-A | DISC1 | c.1982-8421G>A | - | IntronicSNV | - | 9/12 |
2-234666461-T-G | UGT1A4 | c.868-9219T>G | - | IntronicSNV | - | 1/4 |
6-26369549-C-T | BTN3A2 | c.433+409C>T | - | IntronicSNV | - | 2/8 |
8-48423371-A-G | SPIDR | c.1097+70267A>G | - | IntronicSNV | - | 8/19 |
8-48423371-A-T | SPIDR | c.1097+70267A>T | - | IntronicSNV | - | 8/19 |
6-30689001-T-G | TUBB | c.57+661T>G | - | IntronicSNV | - | 1/3 |
17-39983808-G-C | NT5C3B | c.638C>G | p.Ser213Cys | Missense | 8/9 | - |
1-153612133-G-A | CHTOP | c.219+1209G>A | - | IntronicSNV | - | 3/5 |
5-140529711-C-T | PCDHB6 | c.1-128C>T | - | IntergenicSNV | 1/1 | - |
9-123809890-C-T | C5 | c.66-1229G>A | - | IntronicSNV | - | 1/40 |
17-78091405-G-A | GAA | c.2338G>A | p.Val780Ile | Missense | 17/20 | - |
17-78091405-G-T | GAA | c.2338G>T | p.Val780Leu | Missense | 17/20 | - |
3-97191339-C-T | EPHA6 | c.1895-2857C>T | - | IntronicSNV | - | 7/17 |
11-74673270-A-G | SPCS2 | c.115-2809A>G | - | IntronicSNV | - | 1/4 |
3-41822054-T-G | ULK4 | c.2193+9099A>C | - | IntronicSNV | - | 21/36 |
11-47539697-T-C | CELF1 | c.1-29131A>G | - | IntronicSNV | - | 1/13 |
5-170328399-A-T | RANBP17 | c.489+5280A>T | - | IntronicSNV | - | 5/27 |
6-32171075-A-G | NOTCH4 | c.3231+472T>C | - | IntronicSNV | - | 20/29 |
22-30819629-T-C | SEC14L2 | c.*1233T>C | - | 3-UTRSNV | 12/12 | - |
18-44674094-C-T | HDHD2 | c.-11+2655G>A | - | intron_variant | - | 1/6 |
17-61755974-G-A | MAP3K3 | c.503-3152G>A | - | IntronicSNV | - | 6/15 |
12-93787584-G-T | NUDT4 | c.100-801G>T | - | IntronicSNV | - | 1/4 |
13-44030966-A-G | ENOX1 | c.-75+27179T>C | - | intron_variant | - | 3/16 |
13-44030966-A-C | ENOX1 | c.-75+27179T>G | - | intron_variant | - | 3/16 |
13-52530989-T-C | ATP7B | c.2447+663A>G | - | IntronicSNV | - | 9/20 |
3-15800740-C-T | ANKRD28 | c.190+7001G>A | - | IntronicSNV | - | 3/27 |
4-76903036-A-G | SDAD1 | c.195+50T>C | - | IntronicSNV | - | 2/21 |
2-171920785-C-T | TLK1 | c.331-3119G>A | - | IntronicSNV | - | 3/20 |
6-31098832-G-A | PSORS1C1 | c.13+1410G>A | - | IntronicSNV | - | 3/5 |
6-31098832-G-C | PSORS1C1 | c.13+1410G>C | - | IntronicSNV | - | 3/5 |
10-104855656-T-C | NT5C2 | c.813+40A>G | - | IntronicSNV | - | 12/18 |
5-140581510-G-A | PCDHB11 | c.2163G>A | p.Ser721Ser | Synonymous | 1/1 | - |
12-9099533-T-C | M6PR | c.1-533A>G | - | IntronicSNV | - | 1/4 |
6-150210681-G-C | RAET1E | c.425C>G | p.Thr142Ser | Missense | 3/4 | - |
10-134987146-G-A | KNDC1 | c.360+5330G>A | - | IntronicSNV | - | 3/29 |
17-20136216-T-C | SPECC1 | c.2351+498T>C | - | IntronicSNV | - | 7/7 |
6-150210681-G-A | RAET1E | c.425C>T | p.Thr142Ile | Missense | 3/4 | - |
6-30039240-G-T | RNF39 | c.911C>A | p.Ala304Glu | Missense | 4/5 | - |
8-116650491-T-C | TRPS1 | c.1-14627A>G | - | IntronicSNV | - | 1/6 |
3-41897482-G-A | ULK4 | c.1657-20019C>T | - | IntronicSNV | - | 17/36 |
6-31848220-T-G | EHMT2 | c.3453-179A>C | - | IntronicSNV | - | 27/27 |
2-113985170-C-T | PAX8 | c.1088-337G>A | - | IntronicSNV | - | 9/11 |
4-140909793-C-A | MAML3 | c.469-97672G>T | - | IntronicSNV | - | 1/4 |
4-140909793-C-T | MAML3 | c.469-97672G>A | - | IntronicSNV | - | 1/4 |
13-114817261-A-G | RASA3 | c.277+266T>C | - | IntronicSNV | - | 3/23 |
17-37814080-G-A | STARD3 | c.350G>A | p.Arg117Gln | Missense | 4/15 | - |
2-3677022-T-C | COLEC11 | c.203-8101T>C | - | IntronicSNV | - | 3/6 |
2-3677022-T-A | COLEC11 | c.203-8101T>A | - | IntronicSNV | - | 3/6 |
4-76878956-G-A | SDAD1 | c.1578+44C>T | - | IntronicSNV | - | 18/21 |
18-77697110-T-C | PQLC1 | c.338-3088A>G | - | IntronicSNV | - | 3/5 |
11-117737359-A-G | FXYD6-FXYD2 | c.-6+9948T>C | - | intron_variant | - | 1/10 |
3-129275206-C-T | PLXND1 | c.5727G>A | p.Gln1909Gln | Synonymous | 36/36 | - |
12-110456175-A-G | ANKRD13A | c.426A>G | p.Pro142Pro | Synonymous | 5/15 | - |
16-28922149-C-G | RABEP2 | c.1089+60G>C | - | IntronicSNV | - | 7/12 |
6-137179387-G-A | PEX7 | c.527-8378G>A | - | IntronicSNV | - | 5/9 |
10-35597715-T-C | CCNY | c.-9+58161T>C | - | intron_variant | - | 3/11 |
2-24509370-T-C | ITSN2 | c.1724-150A>G | - | IntronicSNV | - | 15/39 |
8-38845716-A-G | HTRA4 | c.*99A>G | - | 3-UTRSNV | 9/9 | - |
10-88520409-A-G | BMPR1A | c.-268+3733A>G | - | intron_variant | - | 1/12 |
2-55460751-C-T | RPS27A | c.103+198C>T | - | IntronicSNV | - | 3/5 |
22-23587894-C-T | BCR | c.1280-8092C>T | - | IntronicSNV | - | 1/22 |
22-23587894-C-G | BCR | c.1280-8092C>G | - | IntronicSNV | - | 1/22 |
8-48515523-T-G | SPIDR | c.1544+3765T>G | - | IntronicSNV | - | 10/19 |
17-41180772-C-G | RND2 | c.*75C>G | - | 3-UTRSNV | 5/5 | - |
6-30857894-G-A | DDR1 | c.417+687G>A | - | IntronicSNV | - | 3/16 |
10-12677614-T-C | CAMK1D | c.225-31121T>C | - | IntronicSNV | - | 2/9 |
17-41180772-C-T | RND2 | c.*75C>T | - | 3-UTRSNV | 5/5 | - |
16-9910348-A-G | GRIN2A | c.2168+5773T>C | - | IntronicSNV | - | 11/13 |
19-37864682-T-G | ZNF527 | c.1-419T>G | - | IntronicSNV | - | 1/4 |
10-73600155-G-A | PSAP | c.41-5893C>T | - | IntronicSNV | - | 1/13 |
7-1521875-T-C | INTS1 | c.3703+307A>G | - | IntronicSNV | - | 27/47 |
4-169500402-G-A | PALLD | c.908+66839G>A | - | IntronicSNV | - | 2/20 |
6-31122482-G-A | CCHCR1 | c.325C>T | p.Arg109Trp | Missense | 4/18 | - |
10-1139183-A-G | WDR37 | c.605-209A>G | - | IntronicSNV | - | 7/13 |
11-858424-C-T | TSPAN4 | c.64-4126C>T | - | IntronicSNV | - | 3/8 |
15-85331269-G-A | ZNF592 | c.2221-2667G>A | - | IntronicSNV | - | 4/10 |
17-35675013-A-G | ACACA | c.227+12100T>C | - | IntronicSNV | - | 3/55 |
6-31475486-C-T | MICB | c.1024+178C>T | - | IntronicSNV | - | 5/5 |
1-150916657-C-T | SETDB1 | c.949+188C>T | - | IntronicSNV | - | 8/21 |
15-78843051-C-T | PSMA4 | c.*1765C>T | - | IntergenicSNV | 9/9 | - |
17-80830760-G-C | TBCD | c.1475+2504G>C | - | IntronicSNV | - | 14/38 |
4-100055825-G-A | ADH4 | c.582+1792C>T | - | IntronicSNV | - | 5/8 |
6-26373678-G-A | BTN3A2 | c.964+37G>A | - | IntronicSNV | - | 6/8 |
1-85716807-G-A | C1orf52 | c.*1505C>T | - | 3-UTRSNV | 3/3 | - |
6-163673166-A-T | PACRG | c.614-60645A>T | - | IntronicSNV | - | 5/6 |
6-163673166-A-G | PACRG | c.614-60645A>G | - | IntronicSNV | - | 5/6 |
6-26463660-G-A | BTN2A1 | c.619G>A | p.Val207Met | Missense | 4/8 | - |
4-100059568-G-T | ADH4 | c.350+644C>A | - | IntronicSNV | - | 4/8 |
6-33053877-G-C | HLA-DPB1 | c.758-119G>C | - | IntronicSNV | - | 4/5 |
6-32138545-A-T | AGPAT1 | c.335-168T>A | - | IntronicSNV | - | 3/6 |
14-90743973-G-A | NRDE2 | c.*707C>T | - | IntergenicSNV | 14/14 | - |
6-31918860-A-G | CFB | c.1856-61A>G | - | IntronicSNV | - | 14/17 |
11-77850517-C-A | ALG8 | c.95+23G>T | - | IntronicSNV | - | 1/12 |
11-108420006-T-C | EXPH5 | c.120-7467A>G | - | IntronicSNV | - | 1/5 |
17-44249199-T-G | KANSL1 | c.311A>C | p.Lys104Thr | Missense | 2/15 | - |
9-5181467-C-G | INSL6 | c.289+3847G>C | - | IntronicSNV | - | 1/1 |
11-126138453-C-G | SRPRA | c.117+130G>C | - | IntronicSNV | - | 1/13 |
2-169662024-A-G | NOSTRIN | c.-122+2841A>G | - | intron_variant | - | 1/14 |
8-22133744-C-T | PIWIL2 | c.-47+202C>T | - | intron_variant | - | 1/22 |
10-104574422-A-G | WBP1L | c.*1334A>G | - | 3-UTRSNV | 4/4 | - |
22-39482023-C-A | APOBEC3G | c.736-261C>A | - | IntronicSNV | - | 5/7 |
7-47437150-C-T | TNS3 | c.920-649G>A | - | IntronicSNV | - | 15/30 |
19-10676441-G-A | KRI1 | c.138C>T | p.Asp46Asp | Synonymous | 2/19 | - |
4-141468569-C-T | ELMOD2 | c.737-2815C>T | - | IntronicSNV | - | 8/8 |
6-29646879-T-C | ZFP57 | c.1-2099A>G | - | IntergenicSNV | - | 1/4 |
10-94290484-A-C | IDE | c.661+1021T>G | - | IntronicSNV | - | 4/24 |
7-44112873-G-C | POLM | c.*17C>G | - | 3-UTRSNV | 11/11 | - |
7-44112873-G-T | POLM | c.*17C>A | - | 3-UTRSNV | 11/11 | - |
X-153701716-A-G | PLXNA3 | c.*688A>G | - | 3-UTRSNV | 33/33 | - |
3-158390540-A-G | GFM1 | c.1601+6365A>G | - | IntronicSNV | - | 13/17 |
3-158390540-A-T | GFM1 | c.1601+6365A>T | - | IntronicSNV | - | 13/17 |
1-150729983-G-T | CTSS | c.249+351C>A | - | IntronicSNV | - | 3/7 |
6-32096001-C-A | ATF6B | c.1-17G>T | - | 5-UTRSNV | 1/18 | - |
1-150729983-G-A | CTSS | c.249+351C>T | - | IntronicSNV | - | 3/7 |
6-32161396-T-A | GPSM3 | c.-101-495A>T | - | intron_variant | - | 3/7 |
6-32161396-T-G | GPSM3 | c.-101-495A>C | - | intron_variant | - | 3/7 |
17-44859144-C-T | WNT3 | c.81-7869G>A | - | IntronicSNV | - | 1/4 |
10-12673810-T-C | CAMK1D | c.225-34925T>C | - | IntronicSNV | - | 2/9 |
17-80804086-A-G | TBCD | c.1319-24014A>G | - | IntronicSNV | - | 13/38 |
8-48322002-T-A | SPIDR | c.877+1479T>A | - | IntronicSNV | - | 7/19 |
10-104851396-G-T | NT5C2 | c.1160-24C>A | - | IntronicSNV | - | 15/18 |
3-129218944-G-T | IFT122 | c.2198+33G>T | - | IntronicSNV | - | 18/28 |
1-155870416-G-A | RIT1 | c.430-7C>T | - | IntronicSNV | - | 5/5 |
6-33056902-G-C | HLA-DPB1 | c.*2887G>C | - | 3-UTRSNV | 6/6 | - |
13-44078678-A-C | ENOX1 | c.-218-20390T>G | - | intron_variant | - | 2/16 |
6-30030135-G-A | ZNRD1 | c.356+25G>A | - | IntronicSNV | - | 4/4 |
3-158379649-G-A | GFM1 | c.1324-768G>A | - | IntronicSNV | - | 10/17 |
2-225335595-A-G | CUL3 | c.*3367T>C | - | 3-UTRSNV | 15/15 | - |
1-26627478-T-C | UBXN11 | c.100+707A>G | - | IntronicSNV | - | 4/14 |
5-115325279-T-C | LVRN | c.1105+1643T>C | - | IntronicSNV | - | 4/19 |
5-170364988-G-A | RANBP17 | c.1468+13434G>A | - | IntronicSNV | - | 12/27 |
5-140581510-G-C | PCDHB11 | c.2163G>C | p.Ser721Ser | Synonymous | 1/1 | - |
1-150799755-C-T | ARNT | c.1123-662G>A | - | IntronicSNV | - | 11/20 |
7-99691740-G-A | MCM7 | c.1320+56C>T | - | IntronicSNV | - | 12/13 |
21-33956362-T-C | TCP10L | c.144+109A>G | - | IntronicSNV | - | 2/4 |
6-116312893-A-T | FRK | c.466+12147T>A | - | IntronicSNV | - | 2/7 |
15-86288387-C-T | AKAP13 | c.*479C>T | - | 3-UTRSNV | 37/37 | - |
2-108916044-A-G | SULT1C2 | c.372+927A>G | - | IntronicSNV | - | 4/8 |
17-41329847-G-A | NBR1 | c.103-106G>A | - | IntronicSNV | - | 2/20 |
6-30153363-G-A | TRIM26 | c.*290C>T | - | 3-UTRSNV | 10/10 | - |
13-111308862-G-A | CARS2 | c.988-5415C>T | - | IntronicSNV | - | 9/14 |
6-31085200-A-G | CDSN | c.192T>C | p.Gly64Gly | Synonymous | 2/2 | - |
15-78841220-T-C | PSMA4 | c.720T>C | p.His240His | Synonymous | 9/9 | - |
1-76331320-T-C | MSH4 | c.1231-1879T>C | - | IntronicSNV | - | 8/19 |
7-43700346-T-G | COA1 | c.1-12133A>C | - | IntronicSNV | - | 1/5 |
6-32165444-A-G | NOTCH4 | c.4757-73T>C | - | IntronicSNV | - | 26/29 |
4-10087995-C-G | WDR1 | c.531+1336G>C | - | IntronicSNV | - | 5/11 |
7-141463914-T-C | TAS2R3 | c.1-45T>C | - | 5-UTRSNV | 1/1 | - |
8-99114970-A-C | RIDA | c.*100T>G | - | 3-UTRSNV | 6/6 | - |
3-48312229-A-C | ZNF589 | c.*1953A>C | - | 3-UTRSNV | 4/4 | - |
17-66244578-T-C | AMZ2 | c.-269T>C | - | 5_prime_UTR_variant | 1/7 | - |
6-30165662-G-A | TRIM26 | c.534+544C>T | - | IntronicSNV | - | 5/9 |
16-4506232-G-A | DNAJA3 | c.*663G>A | - | 3-UTRSNV | 11/11 | - |
3-48312229-A-T | ZNF589 | c.*1953A>T | - | 3-UTRSNV | 4/4 | - |
3-48312229-A-G | ZNF589 | c.*1953A>G | - | 3-UTRSNV | 4/4 | - |
19-10668673-A-G | KRI1 | c.1334T>C | - | missense_variant | 14/19 | - |
17-43923180-G-C | SPPL2C | c.908G>C | p.Arg303Pro | Missense | 1/1 | - |
16-87999571-A-G | BANP | c.1-9151A>G | - | IntronicSNV | - | 1/11 |
4-49053522-G-A | CWH43 | c.2021+656G>A | - | IntronicSNV | - | 15/15 |
3-41855284-C-T | ULK4 | c.1848+5631G>A | - | IntronicSNV | - | 19/36 |
7-75685593-G-T | MDH2 | c.236-1135G>T | - | IntronicSNV | - | 2/8 |
12-88888215-T-C | KITLG | c.*2781A>G | - | 3_prime_UTR_variant | 9/9 | - |
10-104740568-C-A | CNNM2 | c.1621+60710C>A | - | IntronicSNV | - | 1/7 |
9-71033538-T-C | PGM5 | c.1043+26149T>C | - | IntronicSNV | - | 6/10 |
6-31540556-T-C | LTA | c.37T>C | p.Cys13Arg | Missense | 2/4 | - |
12-88943596-C-A | KITLG | c.16-3954G>T | - | IntronicSNV | - | 1/8 |
7-150438558-G-T | GIMAP1-GIMAP5 | c.655+543G>T | - | IntronicSNV | - | 5/5 |
13-44053468-C-A | ENOX1 | c.-75+4677G>T | - | intron_variant | - | 3/16 |
12-88943596-C-T | KITLG | c.16-3954G>A | - | IntronicSNV | - | 1/8 |
7-1887362-G-C | MAD1L1 | c.1999-31498C>G | - | IntronicSNV | - | 18/18 |
5-77759362-A-G | SCAMP1 | c.849+4177A>G | - | intron_variant | - | 9/9 |
3-41965532-G-A | ULK4 | c.542-4222C>T | - | IntronicSNV | - | 5/36 |
10-93691840-A-G | BTAF1 | c.15-3574A>G | - | IntronicSNV | - | 1/37 |
13-44446161-G-C | CCDC122 | c.1-2649C>G | - | IntronicSNV | - | 2/6 |
5-74442964-T-C | ANKRD31 | c.2272A>G | p.Arg758Gly | Missense | 14/25 | - |
10-3147192-G-A | PFKP | c.621-115G>A | - | IntronicSNV | - | 5/21 |
2-86348960-G-A | PTCD3 | c.654+243G>A | - | IntronicSNV | - | 8/23 |
6-31474280-G-A | MICB | c.613+73G>A | - | IntronicSNV | - | 3/5 |
10-35567127-T-C | CCNY | c.-9+27573T>C | - | intron_variant | - | 3/11 |
20-30135990-A-G | HM13 | c.455-842A>G | - | IntronicSNV | - | 4/12 |
5-77803267-A-C | LHFPL2 | c.430+2340T>G | - | IntronicSNV | - | 4/4 |
17-20023099-G-A | SPECC1 | c.283+9224G>A | - | IntronicSNV | - | 3/7 |
6-33624733-A-G | ITPR3 | c.283-976A>G | - | IntronicSNV | - | 3/57 |
7-1987092-T-C | MAD1L1 | c.1596+10172A>G | - | IntronicSNV | - | 16/18 |
5-81533735-C-T | ATG10 | c.454-14646C>T | - | IntronicSNV | - | 6/8 |
12-31240334-C-T | DDX11 | c.639-538C>T | - | IntronicSNV | - | 5/26 |
12-31240334-C-G | DDX11 | c.639-538C>G | - | IntronicSNV | - | 5/26 |
10-104787019-C-A | CNNM2 | c.1622-22445C>A | - | IntronicSNV | - | 1/7 |
17-80751311-A-G | TBCD | c.772-4322A>G | - | IntronicSNV | - | 7/38 |
7-1886937-C-G | MAD1L1 | c.1999-31073G>C | - | IntronicSNV | - | 18/18 |
1-145517561-C-T | PEX11B | c.172+173C>T | - | IntronicSNV | - | 2/3 |
X-106319219-C-T | RBM41 | c.928-6587G>A | - | IntronicSNV | - | 5/6 |
6-32411035-A-C | HLA-DRA | c.402A>C | p.Ile134Ile | Synonymous | 3/5 | - |
1-150679358-C-T | HORMAD1 | c.548-73G>A | - | IntronicSNV | - | 9/14 |
1-150679358-C-A | HORMAD1 | c.548-73G>T | - | IntronicSNV | - | 9/14 |
6-31721033-G-A | MSH5 | c.813-45G>A | - | IntronicSNV | - | 10/24 |
6-33053942-T-C | HLA-DPB1 | c.758-54T>C | - | IntronicSNV | - | 4/5 |
6-116262976-G-A | FRK | c.*601C>T | - | 3-UTRSNV | 8/8 | - |
1-237006914-A-G | MTR | c.1515+5015A>G | - | IntronicSNV | - | 15/32 |
4-100048414-T-C | ADH4 | c.925A>G | p.Ile309Val | Missense | 7/9 | - |
12-88900246-G-T | KITLG | c.631-91C>A | - | IntronicSNV | - | 6/8 |
16-68790394-G-A | CDH1 | c.163+18080G>A | - | IntronicSNV | - | 2/15 |
7-44114251-G-A | POLM | c.836-122C>T | - | IntronicSNV | - | 6/10 |
1-151193897-A-G | PIP5K1A | c.86-2827A>G | - | IntronicSNV | - | 1/14 |
8-48559397-C-T | SPIDR | c.1545-26966C>T | - | IntronicSNV | - | 10/19 |
9-140682841-C-T | EHMT1 | c.2383-2459C>T | - | IntronicSNV | - | 15/26 |
13-44446161-G-A | CCDC122 | c.1-2649C>T | - | IntronicSNV | - | 2/6 |
6-36779537-T-C | CPNE5 | c.183+10353A>G | - | IntronicSNV | - | 3/20 |
1-153613545-G-A | CHTOP | c.220-1177G>A | - | IntronicSNV | - | 3/5 |
4-166365138-C-T | CPE | c.308-20404C>T | - | IntronicSNV | - | 1/8 |
1-26570009-G-A | CEP85 | c.56-648G>A | - | IntronicSNV | - | 2/13 |
7-44092723-G-T | DBNL | c.327+183G>T | - | IntronicSNV | - | 4/12 |
7-2115215-A-G | MAD1L1 | c.1074-6242T>C | - | IntronicSNV | - | 11/18 |
17-78079837-A-G | GAA | c.692+144A>G | - | IntronicSNV | - | 3/19 |
4-120238780-A-C | FABP2 | c.*1416T>G | - | 3-UTRSNV | 4/4 | - |
1-153613545-G-C | CHTOP | c.220-1177G>C | - | IntronicSNV | - | 3/5 |
9-139878828-T-C | LCNL1 | c.123-114T>C | - | IntronicSNV | - | 1/2 |
19-33169003-A-C | RGS9BP | c.*1126A>C | - | 3-UTRSNV | 1/1 | - |
6-31733466-T-C | VWA7 | c.2581A>G | p.Thr861Ala | Missense | 17/17 | - |
5-1051687-T-C | SLC12A7 | c.*788A>G | - | 3-UTRSNV | 24/24 | - |
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 | - |
3-52720080-A-C | GNL3 | c.1-29A>C | - | 5-UTRSNV | 1/15 | - |
6-31725285-A-G | MSH5 | c.1015-657A>G | - | IntronicSNV | - | 12/24 |
12-110430968-A-G | GIT2 | c.53-1403T>C | - | IntronicSNV | - | 1/19 |
4-91516422-C-G | CCSER1 | c.1725-32754C>G | - | IntronicSNV | - | 5/10 |
6-31717692-A-G | MSH5 | c.812+2483A>G | - | IntronicSNV | - | 10/24 |
6-30688575-G-C | TUBB | c.57+235G>C | - | IntronicSNV | - | 1/3 |
7-64292695-G-A | ZNF138 | c.*115G>A | - | 3-UTRSNV | 3/3 | - |
17-14111915-C-T | COX10 | c.*1385C>T | - | 3-UTRSNV | 7/7 | - |
6-32172993-C-T | NOTCH4 | c.2866-827G>A | - | IntronicSNV | - | 18/29 |
X-106330707-T-A | RBM41 | c.927+959A>T | - | IntronicSNV | - | 5/6 |
9-140661826-T-G | EHMT1 | c.1647+4554T>G | - | IntronicSNV | - | 10/26 |
15-40914177-T-C | KNL1 | c.1715T>C | p.Met572Thr | Missense | 10/26 | - |
6-137161671-C-G | PEX7 | c.340-5082C>G | - | IntronicSNV | - | 3/9 |
6-137161671-C-T | PEX7 | c.340-5082C>T | - | IntronicSNV | - | 3/9 |
6-33051910-C-G | HLA-DPB1 | c.365-817C>G | - | IntronicSNV | - | 2/5 |
6-33051910-C-A | HLA-DPB1 | c.365-817C>A | - | IntronicSNV | - | 2/5 |
11-61547237-C-T | MYRF | c.2221-77C>T | - | IntronicSNV | - | 16/25 |
7-141490107-A-G | TAS2R5 | c.1-55A>G | - | 5-UTRSNV | 1/1 | - |
5-170364988-G-T | RANBP17 | c.1468+13434G>T | - | IntronicSNV | - | 12/27 |
6-150210802-A-G | RAET1E | c.347-43T>C | - | IntronicSNV | - | 2/3 |
6-26375159-A-G | BTN3A2 | c.*34+133A>G | - | intron_variant | - | 8/8 |
2-24391129-A-G | FAM228B | c.*14+577A>G | - | intron_variant | - | 11/11 |
6-31843924-C-T | SLC44A4 | c.90-18G>A | - | IntronicSNV | - | 2/19 |
4-47997253-A-T | CNGA1 | c.-110-13736T>A | - | intron_variant | - | 2/10 |
2-234650604-T-C | UGT1A4 | c.867+22271T>C | - | IntronicSNV | - | 1/4 |
4-47997253-A-G | CNGA1 | c.-110-13736T>C | - | intron_variant | - | 2/10 |
7-64267756-C-T | ZNF138 | c.4-7540C>T | - | IntronicSNV | - | 1/2 |
19-17920758-T-G | B3GNT3 | c.567+1575T>G | - | IntronicSNV | - | 2/2 |
2-234672639-G-T | UGT1A1 | c.864+2842G>T | - | IntronicSNV | - | 1/4 |
19-44564981-G-A | ZNF223 | c.222G>A | p.Arg74Arg | Synonymous | 4/5 | - |
1-231548480-A-G | EGLN1 | c.891+8264T>C | - | IntronicSNV | - | 1/4 |
2-191312906-T-C | MFSD6 | c.1532+10619T>C | - | IntronicSNV | - | 3/7 |
1-205044339-A-G | CNTN2 | c.*1446A>G | - | 3-UTRSNV | 23/23 | - |
2-127842383-C-T | BIN1 | c.85-8101G>A | - | IntronicSNV | - | 1/18 |
2-86345536-A-G | PTCD3 | c.415-508A>G | - | IntronicSNV | - | 6/23 |
6-33053877-G-A | HLA-DPB1 | c.758-119G>A | - | IntronicSNV | - | 4/5 |
19-41930396-A-G | BCKDHA | c.1221A>G | p.Leu407Leu | Synonymous | 9/9 | - |
3-58558769-C-A | FAM107A | c.-103-2619G>T | - | intron_variant | - | 1/4 |
3-58558769-C-G | FAM107A | c.-103-2619G>C | - | intron_variant | - | 1/4 |
6-33053877-G-T | HLA-DPB1 | c.758-119G>T | - | IntronicSNV | - | 4/5 |
16-4544505-C-T | HMOX2 | c.-42+10750C>T | - | intron_variant | - | 2/6 |
4-5228210-A-G | STK32B | c.260+58033A>G | - | IntronicSNV | - | 3/11 |
10-101977883-C-T | CHUK | c.802G>A | p.Val268Ile | Missense | 9/21 | - |
5-662955-T-G | TPPP | c.*2262A>C | - | 3-UTRSNV | 4/4 | - |
2-219492924-T-C | PLCD4 | c.945T>C | p.Cys315Cys | Synonymous | 7/16 | - |
17-34052513-C-T | AP2B1 | c.*1795C>T | - | 3-UTRSNV | 22/22 | - |
6-32147696-G-A | RNF5 | c.315G>A | p.Pro105Pro | Synonymous | 4/6 | - |
11-74553834-C-T | XRRA1 | c.*411G>A | - | 3-UTRSNV | 19/19 | - |
17-44039691-A-G | MAPT | c.1-13A>G | - | 5-UTRSNV | 2/14 | - |
13-52539526-T-G | ATP7B | c.1708-357A>C | - | IntronicSNV | - | 4/20 |
11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
10-1128216-G-A | WDR37 | c.396+1800G>A | - | IntronicSNV | - | 5/13 |
7-43664198-A-G | STK17A | c.1002A>G | p.Glu334Glu | Synonymous | 7/7 | - |
1-9300608-T-C | H6PD | c.1-4386T>C | - | IntronicSNV | - | 1/4 |
19-36858944-A-G | ZFP14 | c.1-150T>C | - | IntronicSNV | - | 1/4 |
6-30307342-G-C | TRIM39-RPP21 | c.781-343G>C | - | IntronicSNV | - | 3/9 |
13-52548140-A-T | ATP7B | c.1216T>A | p.Ser406Thr | Missense | 2/21 | - |
16-89185019-A-G | ACSF3 | c.1127-2190A>G | - | IntronicSNV | - | 6/10 |
16-89185019-A-C | ACSF3 | c.1127-2190A>C | - | IntronicSNV | - | 6/10 |
13-52548140-A-C | ATP7B | c.1216T>G | p.Ser406Ala | Missense | 2/21 | - |
17-41331816-C-T | NBR1 | c.184+387C>T | - | IntronicSNV | - | 4/20 |
1-53074532-C-A | GPX7 | c.*435C>A | - | 3-UTRSNV | 3/3 | - |
7-158727910-A-G | WDR60 | c.2778+670A>G | - | IntronicSNV | - | 23/24 |
1-23112369-A-G | EPHB2 | c.811+800A>G | - | IntronicSNV | - | 3/15 |
12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
6-28214698-C-T | ZKSCAN4 | c.778+49G>A | - | IntronicSNV | - | 4/4 |
6-62402110-T-C | KHDRBS2 | c.952+4990A>G | - | IntronicSNV | - | 8/8 |
15-78894896-C-T | CHRNA3 | c.378-290G>A | - | IntronicSNV | - | 4/5 |
7-100073292-A-G | TSC22D4 | c.763-1229T>C | - | IntronicSNV | - | 2/4 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
10-104843148-C-T | CNNM2 | c.*6211C>T | - | IntergenicSNV | 8/8 | - |
17-14058088-C-T | COX10 | c.625-5106C>T | - | IntronicSNV | - | 4/6 |
1-26899125-C-G | RPS6KA1 | c.1947+341C>G | - | IntronicSNV | - | 20/21 |
12-112298257-A-G | MAPKAPK5 | c.37-4797A>G | - | IntronicSNV | - | 1/13 |
11-117731136-G-C | FXYD6-FXYD2 | c.-6+16171C>G | - | intron_variant | - | 1/10 |
11-14910273-T-G | CYP2R1 | c.226-2810A>C | - | IntronicSNV | - | 1/4 |
2-3660208-A-T | COLEC11 | c.131-693A>T | - | IntronicSNV | - | 2/6 |
2-3660208-A-G | COLEC11 | c.131-693A>G | - | IntronicSNV | - | 2/6 |
12-123799974-A-T | SBNO1 | c.3063T>A | p.Gly1021Gly | Synonymous | 23/32 | - |
17-44108202-A-G | KANSL1 | c.*640T>C | - | 3-UTRSNV | 15/15 | - |
6-33057176-T-C | HLA-DPB1 | c.*2865T>C | - | 3_prime_UTR_variant | 6/6 | - |
14-77934587-T-C | AHSA1 | c.792+60T>C | - | IntronicSNV | - | 7/8 |
2-234650193-T-G | UGT1A4 | c.867+21860T>G | - | IntronicSNV | - | 1/4 |
13-95236825-A-G | TGDS | c.314-1335T>C | - | IntronicSNV | - | 4/11 |
17-61728881-C-A | MAP3K3 | c.168-1036C>A | - | IntronicSNV | - | 3/15 |
1-248128929-G-A | OR2AK2 | c.296G>A | p.Ser99Asn | Missense | 1/1 | - |
11-130060217-C-T | ST14 | c.635-132C>T | - | IntronicSNV | - | 6/18 |
6-33056694-T-C | HLA-DPB1 | c.*2383T>C | - | 3_prime_UTR_variant | 6/6 | - |
1-167522461-C-T | CREG1 | c.354+164G>A | - | IntronicSNV | - | 1/3 |
17-41244936-G-C | BRCA1 | c.2612C>G | p.Pro871Arg | Missense | 10/23 | - |
11-126162607-G-A | TIRAP | c.303G>A | p.Gln101Gln | Synonymous | 5/5 | - |
1-226182455-A-G | SDE2 | c.238+512T>C | - | IntronicSNV | - | 2/6 |
6-31715882-T-C | MSH5 | c.812+673T>C | - | IntronicSNV | - | 10/24 |
6-33055773-G-A | HLA-DPB1 | c.*1758G>A | - | 3-UTRSNV | 6/6 | - |
16-68729785-C-T | CDH3 | c.2239C>T | p.Arg747Trp | Missense | 15/16 | - |
6-167710832-T-C | UNC93A | c.500-601T>C | - | IntronicSNV | - | 3/7 |
3-134280948-G-T | CEP63 | c.*571G>T | - | 3-UTRSNV | 16/16 | - |
1-205767885-G-A | SLC41A1 | c.756C>T | p.Asn252Asn | Synonymous | 6/11 | - |
17-41244936-G-T | BRCA1 | c.2612C>A | p.Pro871Gln | Missense | 10/23 | - |
19-37674259-G-A | ZNF585B | c.*1870C>T | - | 3-UTRSNV | 5/5 | - |
16-68729785-C-A | CDH3 | c.2239C>A | p.Arg747Arg | Synonymous | 15/16 | - |
3-49792023-A-G | IP6K1 | c.1-6550T>C | - | IntronicSNV | - | 1/5 |
3-49792023-A-T | IP6K1 | c.1-6550T>A | - | IntronicSNV | - | 1/5 |
4-2952506-A-G | NOP14 | c.1002+335T>C | - | IntronicSNV | - | 7/18 |
19-37881556-T-C | ZNF527 | c.*775T>C | - | 3-UTRSNV | 5/5 | - |
6-31922254-A-C | NELFE | c.743-35T>G | - | IntronicSNV | - | 7/10 |
3-134280948-G-C | CEP63 | c.*571G>C | - | 3-UTRSNV | 16/16 | - |
11-299506-C-A | IFITM5 | c.1-16G>T | - | 5-UTRSNV | 1/2 | - |
6-116305064-T-C | FRK | c.467-15162A>G | - | IntronicSNV | - | 2/7 |
10-94368178-G-A | KIF11 | c.388-599G>A | - | IntronicSNV | - | 4/21 |
1-202715284-G-C | KDM5B | c.2184C>G | p.Tyr728* | Nonsense | 15/27 | - |
1-202715284-G-A | KDM5B | c.2184C>T | p.Tyr728Tyr | Synonymous | 15/27 | - |
16-4015729-C-T | ADCY9 | c.*47G>A | - | 3-UTRSNV | 11/11 | - |
6-31001911-C-T | MUC22 | c.5056-538C>T | - | IntronicSNV | - | 4/4 |
1-76320441-T-A | MSH4 | c.1230+6480T>A | - | IntronicSNV | - | 8/19 |
1-76320441-T-C | MSH4 | c.1230+6480T>C | - | IntronicSNV | - | 8/19 |
1-154438880-T-C | IL6R | c.*1024T>C | - | 3-UTRSNV | 10/10 | - |
4-141459925-T-C | ELMOD2 | c.399+1230T>C | - | IntronicSNV | - | 5/8 |
6-30036471-C-A | PPP1R11 | c.174C>A | p.Ser58Ser | Synonymous | 2/3 | - |
6-31725230-G-A | MSH5 | c.1015-712G>A | - | IntronicSNV | - | 12/24 |
4-10082156-C-T | WDR1 | c.864+825G>A | - | IntronicSNV | - | 8/11 |
12-88477988-T-C | CEP290 | c.4705-257A>G | - | IntronicSNV | - | 35/53 |
11-133800219-C-A | IGSF9B | c.1520-542G>T | - | IntronicSNV | - | 11/19 |
17-40811781-C-T | TUBG2 | c.50-71C>T | - | IntronicSNV | - | 1/10 |
6-166878708-A-C | RPS6KA2 | c.972+4621T>G | - | IntronicSNV | - | 11/20 |
11-74553074-C-T | RNF169 | c.*5299C>T | - | 3-UTRSNV | 6/6 | - |
5-74456477-C-A | ANKRD31 | c.1708-6307G>T | - | IntronicSNV | - | 11/24 |
6-31129310-C-T | TCF19 | c.325C>T | p.Pro109Ser | Missense | 3/4 | - |
9-117120680-C-T | AKNA | c.2493-233G>A | - | IntronicSNV | - | 11/21 |
9-136270996-C-T | STKLD1 | c.*451C>T | - | 3-UTRSNV | 18/18 | - |
6-31837277-C-G | SLC44A4 | c.1004+45G>C | - | IntronicSNV | - | 11/19 |
6-110746526-T-C | SLC22A16 | c.1522-238A>G | - | IntronicSNV | - | 7/7 |
1-156532344-T-G | IQGAP3 | c.877+35A>C | - | IntronicSNV | - | 9/37 |
4-38087105-T-C | TBC1D1 | c.2051-4448T>C | - | IntronicSNV | - | 12/19 |
5-176817143-G-A | SLC34A1 | c.936+1770G>A | - | IntronicSNV | - | 8/12 |
5-176817143-G-T | SLC34A1 | c.936+1770G>T | - | IntronicSNV | - | 8/12 |
4-120522172-C-T | PDE5A | c.742-4405G>A | - | IntronicSNV | - | 2/20 |
16-52506172-A-C | TOX3 | c.88-3686T>G | - | IntronicSNV | - | 1/6 |
11-61551356-T-A | MYRF | c.3033T>A | p.Ser1011Arg | Missense | 23/26 | - |
17-41244000-T-A | BRCA1 | c.3548A>T | p.Lys1183Ile | Missense | 10/23 | - |
17-41244000-T-C | BRCA1 | c.3548A>G | p.Lys1183Arg | Missense | 10/23 | - |
7-150440043-C-T | GIMAP1-GIMAP5 | c.1428C>T | p.Leu476Leu | Synonymous | 6/6 | - |
11-61551356-T-C | MYRF | c.3033T>C | p.Ser1011Ser | Synonymous | 23/26 | - |
1-109814880-C-T | CELSR2 | c.7927-20C>T | - | IntronicSNV | - | 28/33 |
17-33920036-A-C | AP2B1 | c.1-1014A>C | - | IntronicSNV | - | 1/21 |
X-44191332-G-T | EFHC2 | c.42+11461C>A | - | IntronicSNV | - | 1/14 |
X-106449643-G-T | NUP62CL | c.-232C>A | - | 5_prime_UTR_variant | 1/9 | - |
2-178682603-T-A | PDE11A | c.294A>T | p.Ala98Ala | Synonymous | 5/17 | - |
7-95758692-A-C | SLC25A13 | c.1591+2363T>G | - | IntronicSNV | - | 15/17 |
17-56686454-G-A | TEX14 | c.1202+2068C>T | - | IntronicSNV | - | 10/32 |
14-75388183-C-G | RPS6KL1 | c.62G>C | p.Arg21Pro | Missense | 3/12 | - |
19-5618654-C-T | SAFB2 | c.275-2157G>A | - | IntronicSNV | - | 2/20 |
16-68713823-C-A | CDH3 | c.813C>A | p.Thr271Thr | Synonymous | 7/16 | - |
16-68713823-C-T | CDH3 | c.813C>T | p.Thr271Thr | Synonymous | 7/16 | - |
13-43987259-T-C | ENOX1 | c.1-209A>G | - | IntronicSNV | 3/17 | - |
1-153612053-A-G | CHTOP | c.219+1129A>G | - | IntronicSNV | - | 3/5 |
21-44318769-T-C | NDUFV3 | c.169+1612T>C | - | IntronicSNV | - | 2/2 |
14-90754538-C-G | NRDE2 | c.3158+23G>C | - | IntronicSNV | - | 11/13 |
17-44177993-C-A | KANSL1 | c.1290-5926G>T | - | IntronicSNV | - | 2/14 |
4-2950717-G-A | NOP14 | c.1283-582C>T | - | IntronicSNV | - | 8/18 |
6-30306306-A-G | TRIM39-RPP21 | c.781-1379A>G | - | IntronicSNV | - | 3/9 |
9-139879170-G-A | LCNL1 | c.202G>A | p.Ala68Thr | Missense | 3/3 | - |
10-82344060-G-A | SH2D4B | c.349-4326G>A | - | IntronicSNV | - | 3/6 |
17-80886528-C-T | TBCD | c.2694-461C>T | - | IntronicSNV | - | 30/38 |
6-31712196-G-A | MSH5 | c.647+120G>A | - | IntronicSNV | - | 7/24 |
2-188291105-C-A | CALCRL | c.-293+21661G>T | - | intron_variant | - | 1/14 |
1-231476789-A-G | SPRTN | c.321+1175A>G | - | IntronicSNV | - | 2/4 |
18-31328519-C-T | ASXL3 | c.*1960C>T | - | IntergenicSNV | 12/12 | - |
15-67361308-T-A | SMAD3 | c.206+2610T>A | - | IntronicSNV | - | 1/8 |
6-31085269-A-G | CDSN | c.123T>C | p.Pro41Pro | Synonymous | 2/2 | - |
17-78086846-A-G | GAA | c.2040+20A>G | - | IntronicSNV | - | 14/19 |
18-31313124-G-T | ASXL3 | c.976+1096G>T | - | IntronicSNV | - | 9/11 |
12-11061122-T-C | TAS2R13 | c.776A>G | p.Asn259Ser | Missense | 1/1 | - |
1-150821847-G-A | ARNT | c.183-3064C>T | - | IntronicSNV | - | 3/20 |
14-72695406-G-T | RGS6 | c.85-123397G>T | - | IntronicSNV | - | 2/17 |
7-1529860-C-A | INTS1 | c.2166-542G>T | - | IntronicSNV | - | 16/47 |
10-124156852-C-G | PLEKHA1 | c.142-582C>G | - | IntronicSNV | - | 2/11 |
2-86454914-C-T | REEP1 | c.595+4834G>A | - | IntronicSNV | - | 6/6 |
6-32411523-T-C | HLA-DRA | c.611-10T>C | - | IntronicSNV | - | 3/4 |
3-41965234-C-T | ULK4 | c.542-3924G>A | - | IntronicSNV | - | 5/36 |
17-43242694-G-A | HEXIM2 | c.66+2468G>A | - | IntronicSNV | - | 3/3 |
5-140561768-C-T | PCDHB16 | c.1-367C>T | - | 5-UTRSNV | 1/1 | - |
6-30299245-T-A | TRIM39-RPP21 | c.549+592T>A | - | IntronicSNV | - | 2/9 |
6-30299245-T-G | TRIM39-RPP21 | c.549+592T>G | - | IntronicSNV | - | 2/9 |
1-120257576-A-G | PHGDH | c.138+2793A>G | - | IntronicSNV | - | 1/11 |
13-25003883-A-G | PARP4 | c.4846+1632T>C | - | IntronicSNV | - | 32/33 |
2-234665659-T-G | UGT1A4 | c.868-10021T>G | - | IntronicSNV | - | 1/4 |
2-234665659-T-A | UGT1A4 | c.868-10021T>A | - | IntronicSNV | - | 1/4 |
17-20026548-A-G | SPECC1 | c.283+12673A>G | - | IntronicSNV | - | 3/7 |
X-117916520-A-T | IL13RA1 | c.1191+6046A>T | - | IntronicSNV | - | 10/10 |
6-31856070-G-A | EHMT2 | c.1510-17C>T | - | IntronicSNV | - | 12/27 |
13-114834589-G-A | RASA3 | c.173+4606C>T | - | IntronicSNV | - | 2/23 |
13-44431660-A-G | CCDC122 | c.672+1257T>C | - | IntronicSNV | - | 6/6 |
13-44431660-A-T | CCDC122 | c.672+1257T>A | - | IntronicSNV | - | 6/6 |
17-16660721-C-T | CCDC144A | c.3373-4018C>T | - | IntronicSNV | - | 12/17 |
1-55465594-G-T | BSND | c.177+558G>T | - | IntronicSNV | - | 1/3 |
11-65637076-T-G | EFEMP2 | c.727+252A>C | - | IntronicSNV | - | 7/10 |
11-65637076-T-A | EFEMP2 | c.727+252A>T | - | IntronicSNV | - | 7/10 |
11-65637076-T-C | EFEMP2 | c.727+252A>G | - | IntronicSNV | - | 7/10 |
17-80788492-A-G | TBCD | c.1318+15682A>G | - | IntronicSNV | - | 13/38 |
19-40929363-T-C | SERTAD1 | c.91A>G | p.Thr31Ala | Missense | 2/2 | - |
3-69370396-C-G | FRMD4B | c.163-7728G>C | - | IntronicSNV | - | 1/22 |
10-134359062-T-C | INPP5A | c.75+7387T>C | - | IntronicSNV | - | 1/15 |
1-153635425-G-A | ILF2 | c.921+70C>T | - | IntronicSNV | - | 12/13 |
15-40886621-T-C | KNL1 | c.-18+31T>C | - | intron_variant | - | 1/25 |
11-108622394-G-A | DDX10 | c.1965+28205G>A | - | IntronicSNV | - | 13/17 |
4-120534734-C-T | PDE5A | c.153-6282G>A | - | IntronicSNV | - | 1/20 |
8-38840591-C-T | HTRA4 | c.1268+24C>T | - | IntronicSNV | - | 8/8 |
1-200984480-G-A | KIF21B | c.42-5864C>T | - | IntronicSNV | - | 1/34 |
19-40363020-G-C | FCGBP | c.15050C>G | p.Ala5017Gly | Missense | 32/36 | - |
19-40363020-G-A | FCGBP | c.15050C>T | p.Ala5017Val | Missense | 32/36 | - |
2-236898903-C-T | AGAP1 | c.1486+21636C>T | - | IntronicSNV | - | 12/16 |
16-87986136-T-C | BANP | c.-69+1015T>C | - | intron_variant | - | 1/11 |
1-227920061-T-A | JMJD4 | c.*32A>T | - | 3-UTRSNV | 6/6 | - |
1-227920061-T-C | JMJD4 | c.*32A>G | - | 3-UTRSNV | 6/6 | - |
6-31928799-T-A | SKIV2L | c.545-19T>A | - | IntronicSNV | - | 6/27 |
6-31928799-T-C | SKIV2L | c.545-19T>C | - | IntronicSNV | - | 6/27 |
21-30244877-T-G | N6AMT1 | c.*3830A>C | - | IntergenicSNV | 6/6 | - |
8-144401846-T-G | TOP1MT | c.1146+1525A>C | - | IntronicSNV | - | 8/13 |
8-144401846-T-A | TOP1MT | c.1146+1525A>T | - | IntronicSNV | - | 8/13 |
1-26561856-T-C | CEP85 | c.-23+1055T>C | - | intron_variant | - | 1/13 |
7-1536717-T-C | INTS1 | c.1602+57A>G | - | IntronicSNV | - | 11/47 |
6-32161366-T-C | GPSM3 | c.-101-465A>G | - | intron_variant | - | 3/7 |
16-4460049-A-G | CORO7-PAM16 | c.233-1797T>C | - | IntronicSNV | - | 3/30 |
17-43923703-C-T | SPPL2C | c.1431C>T | p.Thr477Thr | Synonymous | 1/1 | - |
17-41331460-G-A | NBR1 | c.184+31G>A | - | IntronicSNV | - | 4/20 |
6-30296253-G-A | TRIM39 | c.-160-413G>A | - | intron_variant | - | 1/7 |
11-118520480-G-T | PHLDB1 | c.3655-302G>T | - | IntronicSNV | - | 19/23 |
1-227920061-T-G | JMJD4 | c.*32A>C | - | 3-UTRSNV | 6/6 | - |
15-100842614-T-C | ADAMTS17 | c.617-21008A>G | - | IntronicSNV | - | 3/21 |
5-43539868-A-G | PAIP1 | c.735-731T>C | - | IntronicSNV | - | 4/10 |
8-8241772-T-C | PRAG1 | c.-88+2059A>G | - | intron_variant | - | 1/5 |
11-14769392-G-A | PDE3B | c.979-24091G>A | - | IntronicSNV | - | 1/15 |
16-12082233-G-T | SNX29 | c.8-10921G>T | - | IntronicSNV | - | 1/20 |
16-12082233-G-A | SNX29 | c.8-10921G>A | - | IntronicSNV | - | 1/20 |
17-14101029-G-A | COX10 | c.928+5491G>A | - | IntronicSNV | - | 6/6 |
3-41853161-C-T | ULK4 | c.1848+7754G>A | - | IntronicSNV | - | 19/36 |
17-78885858-C-A | RPTOR | c.2520+3129C>A | - | IntronicSNV | - | 21/33 |
15-78890321-C-T | CHRNA3 | c.1390-1247G>A | - | IntronicSNV | - | 5/5 |
4-141409324-A-G | MGAT4D | c.95-5685T>C | - | IntronicSNV | - | 1/10 |
7-99964661-A-G | PILRB | c.656-311A>G | - | IntronicSNV | - | 3/3 |
11-14836192-A-C | PDE3B | c.1523-3537A>C | - | IntronicSNV | - | 5/15 |
11-14836192-A-G | PDE3B | c.1523-3537A>G | - | IntronicSNV | - | 5/15 |
7-99965285-T-C | PILRB | c.*285T>C | - | 3-UTRSNV | 4/4 | - |
11-14861517-T-G | PDE3B | c.2321-3856T>G | - | IntronicSNV | - | 11/15 |
11-14774591-A-G | PDE3B | c.979-18892A>G | - | IntronicSNV | - | 1/15 |
3-125737621-C-T | SLC41A3 | c.746-1903G>A | - | IntronicSNV | - | 6/10 |
16-983292-C-T | LMF1 | c.514+952G>A | - | IntronicSNV | - | 3/10 |
7-40248683-A-G | SUGCT | c.394+14024A>G | - | IntronicSNV | - | 6/14 |
7-100031612-G-A | MEPCE | c.*435G>A | - | 3-UTRSNV | 5/5 | - |
14-90735707-A-T | PSMC1 | c.882-34A>T | - | IntronicSNV | - | 8/10 |
6-31838490-C-A | SLC44A4 | c.812-11G>T | - | IntronicSNV | - | 9/19 |
6-31838490-C-T | SLC44A4 | c.812-11G>A | - | IntronicSNV | - | 9/19 |
1-3209923-A-G | PRDM16 | c.438+49222A>G | - | IntronicSNV | - | 3/16 |
11-8709551-T-C | RPL27A | c.*2198T>C | - | 3-UTRSNV | 5/5 | - |
14-90735707-A-G | PSMC1 | c.882-34A>G | - | IntronicSNV | - | 8/10 |
1-26568165-A-G | CEP85 | c.55+1836A>G | - | IntronicSNV | - | 2/13 |
8-6386110-C-T | ANGPT2 | c.445-913G>A | - | IntronicSNV | - | 2/8 |
19-1497060-C-T | REEP6 | c.518-113C>T | - | IntronicSNV | - | 4/4 |
16-28921809-T-C | RABEP2 | c.1089+400A>G | - | IntronicSNV | - | 7/12 |
8-6386110-C-G | ANGPT2 | c.445-913G>C | - | IntronicSNV | - | 2/8 |
16-87998687-G-A | BANP | c.1-10035G>A | - | IntronicSNV | - | 1/11 |
10-134358273-C-T | INPP5A | c.75+6598C>T | - | IntronicSNV | - | 1/15 |
19-1497060-C-G | REEP6 | c.518-113C>G | - | IntronicSNV | - | 4/4 |
6-30122154-T-C | TRIM10 | c.1038A>G | p.Gln346Gln | Synonymous | 7/7 | - |
2-3660752-T-A | COLEC11 | c.131-149T>A | - | IntronicSNV | - | 2/6 |
X-106396402-A-G | NUP62CL | c.530T>C | p.Ile177Thr | Missense | 7/9 | - |
X-106396402-A-C | NUP62CL | c.530T>G | p.Ile177Ser | Missense | 7/9 | - |
11-35201530-C-A | CD44 | c.234-291C>A | - | IntronicSNV | - | 2/17 |
3-15762920-C-T | ANKRD28 | c.694-286G>A | - | IntronicSNV | - | 7/27 |
6-33053887-A-G | HLA-DPB1 | c.758-109A>G | - | IntronicSNV | - | 4/5 |
17-41197274-C-A | BRCA1 | c.*421G>T | - | 3-UTRSNV | 23/23 | - |
19-37428465-T-C | ZNF568 | c.358+321T>C | - | IntronicSNV | - | 6/6 |
1-26877708-G-A | RPS6KA1 | c.308-180G>A | - | IntronicSNV | - | 4/21 |
7-65437774-C-T | GUSB | c.1391+1508G>A | - | IntronicSNV | - | 8/11 |
2-7181486-A-G | RNF144A | c.*1595A>G | - | 3-UTRSNV | 9/9 | - |
18-77630571-A-C | KCNG2 | c.624+6280A>C | - | IntronicSNV | - | 1/1 |
18-77630571-A-G | KCNG2 | c.624+6280A>G | - | IntronicSNV | - | 1/1 |
1-89481583-C-T | GBP3 | c.191-486G>A | - | IntronicSNV | - | 2/10 |
7-65683317-T-G | TPST1 | c.-102+12808T>G | - | intron_variant | - | 1/5 |
17-4762035-A-G | MINK1 | c.58-19577A>G | - | IntronicSNV | - | 1/30 |
17-4762035-A-C | MINK1 | c.58-19577A>C | - | IntronicSNV | - | 1/30 |
7-100004543-T-C | ZCWPW1 | c.1066-122A>G | - | IntronicSNV | - | 11/17 |
1-198224252-G-A | NEK7 | c.198+1942G>A | - | IntronicSNV | - | 3/9 |
15-40945900-T-C | KNL1 | c.6416-1207T>C | - | IntronicSNV | - | 21/25 |
19-1505874-T-C | ADAMTSL5 | c.*140A>G | - | 3-UTRSNV | 12/12 | - |
19-1505874-T-A | ADAMTSL5 | c.*140A>T | - | 3-UTRSNV | 12/12 | - |
1-66077624-G-A | LEPR | c.1995+1645G>A | - | IntronicSNV | - | 14/19 |
22-36007075-C-T | MB | c.174G>A | p.Ala58Ala | Synonymous | 3/4 | - |
6-30040810-T-G | RNF39 | c.682+124A>C | - | IntronicSNV | - | 3/4 |
19-50017724-C-A | FCGRT | c.582C>A | p.Arg194Arg | Synonymous | 4/7 | - |
19-50017724-C-T | FCGRT | c.582C>T | p.Arg194Arg | Synonymous | 4/7 | - |
1-150658971-C-T | GOLPH3L | c.183+8161G>A | - | IntronicSNV | - | 2/4 |
11-89444194-G-A | TRIM77 | c.411+317G>A | - | IntronicSNV | - | 1/5 |
5-497624-G-A | SLC9A3 | c.212-5438C>T | - | IntronicSNV | - | 1/16 |
19-33140381-A-T | ANKRD27 | c.213+207T>A | - | IntronicSNV | - | 3/28 |
12-133389998-T-C | GOLGA3 | c.414A>G | p.Thr138Thr | Synonymous | 4/24 | - |
12-124409502-G-A | DNAH10 | c.11413-95G>A | - | IntronicSNV | - | 66/77 |
6-166877012-G-A | RPS6KA2 | c.973-3973C>T | - | IntronicSNV | - | 11/20 |
19-49342188-C-A | PLEKHA4 | c.1669-802G>T | - | IntronicSNV | - | 15/16 |
19-49342188-C-T | PLEKHA4 | c.1669-802G>A | - | IntronicSNV | - | 15/16 |
19-33140381-A-G | ANKRD27 | c.213+207T>C | - | IntronicSNV | - | 3/28 |
7-43158477-G-C | HECW1 | c.-32+4487G>C | - | intron_variant | - | 2/29 |
7-43158477-G-A | HECW1 | c.-32+4487G>A | - | intron_variant | - | 2/29 |
2-120123277-C-T | C2orf76 | c.-216+656G>A | - | intron_variant | - | 1/6 |
6-31475413-G-A | MICB | c.1024+105G>A | - | IntronicSNV | - | 5/5 |
9-139878317-C-T | LCNL1 | c.122+157C>T | - | IntronicSNV | - | 1/2 |
2-127851697-A-G | BIN1 | c.84+12739T>C | - | IntronicSNV | - | 1/18 |
18-77443046-C-T | CTDP1 | c.314+2785C>T | - | IntronicSNV | - | 1/12 |
7-2120758-G-A | MAD1L1 | c.1074-11785C>T | - | IntronicSNV | - | 11/18 |
7-146897403-A-G | CNTNAP2 | c.1348+67802A>G | - | IntronicSNV | - | 8/23 |
6-31727474-A-G | MSH5 | c.1496-89A>G | - | IntronicSNV | - | 17/24 |
1-25687901-T-C | TMEM50A | c.*705T>C | - | 3-UTRSNV | 7/7 | - |
16-67758778-C-T | RANBP10 | c.*1553G>A | - | 3-UTRSNV | 14/14 | - |
11-8706628-G-A | RPL27A | c.318+189G>A | - | IntronicSNV | - | 4/4 |
1-21795388-A-G | NBPF3 | c.341A>G | p.Tyr114Cys | Missense | 3/15 | - |
6-46682079-A-G | PLA2G7 | c.470+118T>C | - | IntronicSNV | - | 5/11 |
6-26375464-G-T | BTN3A2 | c.*869G>T | - | IntronicSNV | 9/9 | - |
10-52000536-T-C | ASAH2 | c.510+2426A>G | - | IntronicSNV | - | 3/19 |
15-86311695-G-C | KLHL25 | c.1347C>G | p.Phe449Leu | Missense | 2/3 | - |
15-86311695-G-A | KLHL25 | c.1347C>T | p.Phe449Phe | Synonymous | 2/3 | - |
1-230815481-T-G | COG2 | c.1166+683T>G | - | IntronicSNV | - | 10/17 |
17-10617234-G-A | TMEM220 | c.*1536C>T | - | 3-UTRSNV | 6/6 | - |
6-31084792-C-T | CDSN | c.600G>A | p.Gln200Gln | Synonymous | 2/2 | - |
17-4883450-T-C | CAMTA2 | c.1167A>G | p.Thr389Thr | Synonymous | 9/23 | - |
17-4883450-T-A | CAMTA2 | c.1167A>T | p.Thr389Thr | Synonymous | 9/23 | - |
2-178683973-C-T | PDE11A | c.244+974G>A | - | IntronicSNV | - | 4/16 |
11-61609750-C-T | FADS2 | c.618+1553C>T | - | IntronicSNV | - | 4/11 |
1-42620154-A-T | GUCA2B | c.91-197A>T | - | IntronicSNV | - | 1/2 |
13-53263266-C-T | SUGT1 | c.*1296C>T | - | IntergenicSNV | 14/14 | - |
6-31374579-A-G | MICA | c.70+3100A>G | - | IntronicSNV | - | 1/5 |
11-118509668-A-G | PHLDB1 | c.2595A>G | p.Glu865Glu | Synonymous | 12/24 | - |
17-7350544-G-A | CHRNB1 | c.462+74G>A | - | IntronicSNV | - | 5/10 |
7-150439500-C-T | GIMAP1-GIMAP5 | c.885C>T | p.Ala295Ala | Synonymous | 6/6 | - |
16-85044207-T-C | ZDHHC7 | c.-104+685A>G | - | intron_variant | - | 1/7 |
19-37946180-G-A | ZNF569 | c.-44+10035C>T | - | intron_variant | - | 2/5 |
14-24898355-C-A | CBLN3 | c.1-95G>T | - | 5-UTRSNV | 1/3 | - |
4-2943361-T-C | NOP14 | c.2147A>G | p.Gln716Arg | Missense | 15/19 | - |
8-38835269-T-C | HTRA4 | c.772-203T>C | - | IntronicSNV | - | 3/8 |
11-72439241-T-C | ARAP1 | c.1-1068A>G | - | IntronicSNV | - | 1/34 |
1-246410112-T-C | SMYD3 | c.354+80391A>G | - | IntronicSNV | - | 5/11 |
17-80830760-G-T | TBCD | c.1475+2504G>T | - | IntronicSNV | - | 14/38 |
11-35201810-T-C | CD44 | c.234-11T>C | - | IntronicSNV | - | 2/17 |
17-28647752-G-A | TMIGD1 | c.641-1821C>T | - | IntronicSNV | - | 4/6 |
19-46172278-G-A | GIPR | c.1-501G>A | - | IntronicSNV | - | 1/13 |
12-57807114-T-C | R3HDM2 | c.-106+17389A>G | - | intron_variant | - | 1/23 |
4-157720124-C-T | PDGFC | c.495+11865G>A | - | IntronicSNV | - | 3/5 |
5-118691888-A-C | TNFAIP8 | c.31+72A>C | - | IntronicSNV | - | 1/1 |
9-140205159-T-G | EXD3 | c.2185-1007A>C | - | IntronicSNV | - | 19/21 |
11-64514506-A-T | PYGM | c.2313-47T>A | - | IntronicSNV | - | 18/19 |
11-64514506-A-G | PYGM | c.2313-47T>C | - | IntronicSNV | - | 18/19 |
14-93171553-A-C | LGMN | c.1192-501T>G | - | IntronicSNV | - | 12/13 |
17-43924200-C-T | SPPL2C | c.1928C>T | p.Pro643Leu | Missense | 1/1 | - |
11-293188-T-C | PGGHG | c.1296T>C | p.His432His | Synonymous | 8/14 | - |
18-74691112-T-C | MBP | c.*1271A>G | - | 3-UTRSNV | 7/7 | - |
11-46849360-G-A | CKAP5 | c.1-6578C>T | - | IntronicSNV | - | 1/42 |
1-67655954-A-G | IL23R | c.491+7312A>G | - | IntronicSNV | - | 4/10 |
4-38046569-T-A | TBC1D1 | c.1542+458T>A | - | IntronicSNV | - | 9/19 |
4-141388317-C-G | MGAT4D | c.573-2154G>C | - | IntronicSNV | - | 5/10 |
4-141388317-C-T | MGAT4D | c.573-2154G>A | - | IntronicSNV | - | 5/10 |
17-30281992-T-A | SUZ12 | c.455+7288T>A | - | IntronicSNV | - | 4/15 |
16-1901211-G-T | MEIOB | c.778+1829C>A | - | IntronicSNV | - | 9/12 |
1-3108496-G-A | PRDM16 | c.387+5458G>A | - | IntronicSNV | - | 2/16 |
6-31085382-C-A | CDSN | c.86-76G>T | - | IntronicSNV | - | 1/1 |
7-95755635-A-G | SLC25A13 | c.1592-4326T>C | - | IntronicSNV | - | 15/17 |
18-31318376-A-G | ASXL3 | c.1083-75A>G | - | IntronicSNV | - | 10/11 |
19-37917692-G-A | ZNF569 | c.16-412C>T | - | IntronicSNV | - | 3/5 |
4-26337615-T-C | RBPJ | c.20+14945T>C | - | IntronicSNV | - | 1/10 |
16-4938280-T-C | PPL | c.2398-61A>G | - | IntronicSNV | - | 19/21 |
4-120428404-A-G | PDE5A | c.2189+355T>C | - | IntronicSNV | - | 16/20 |
2-86447273-T-G | REEP1 | c.596-3040A>C | - | IntronicSNV | - | 6/6 |
16-28857645-A-C | TUFM | c.1-55T>G | - | 5-UTRSNV | 1/10 | - |
16-28857645-A-G | TUFM | c.1-55T>C | - | 5-UTRSNV | 1/10 | - |
17-40498273-T-C | STAT3 | c.273+314A>G | - | IntronicSNV | - | 3/23 |
17-40498273-T-A | STAT3 | c.273+314A>T | - | IntronicSNV | - | 3/23 |
2-179361881-G-T | PLEKHA3 | c.615+1494G>T | - | IntronicSNV | - | 5/7 |
3-125760349-G-A | SLC41A3 | c.382-7828C>T | - | IntronicSNV | - | 3/10 |
6-167744409-T-C | TTLL2 | c.47+5701T>C | - | IntronicSNV | - | 1/2 |
5-140570973-C-T | PCDHB9 | c.*1688C>T | - | 3_prime_UTR_variant | 2/2 | - |
1-26884864-G-A | RPS6KA1 | c.1085-434G>A | - | IntronicSNV | - | 13/21 |
2-234673309-C-T | UGT1A1 | c.865-2371C>T | - | IntronicSNV | - | 1/4 |
1-154491683-A-T | TDRD10 | c.142-1097A>T | - | IntronicSNV | - | 4/12 |
11-61571348-C-T | FADS1 | c.1054-109G>A | - | IntronicSNV | - | 7/11 |
2-178682603-T-C | PDE11A | c.294A>G | p.Ala98Ala | Synonymous | 5/17 | - |
3-15737698-T-C | ANKRD28 | c.1512A>G | p.Gln504Gln | Synonymous | 15/28 | - |
2-178681534-C-T | PDE11A | c.405+22G>A | - | IntronicSNV | - | 6/16 |
6-116454588-G-A | NT5DC1 | c.529+15480G>A | - | IntronicSNV | - | 6/11 |
17-42327493-G-T | SLC4A1 | c.*333C>A | - | 3-UTRSNV | 20/20 | - |
6-31733466-T-G | VWA7 | c.2581A>C | p.Thr861Pro | Missense | 17/17 | - |
7-2752932-C-T | AMZ1 | c.*420C>T | - | 3-UTRSNV | 7/7 | - |
6-31837250-G-A | SLC44A4 | c.1004+72C>T | - | IntronicSNV | - | 11/19 |
4-2951804-A-G | NOP14 | c.1139T>C | p.Leu380Ser | Missense | 8/19 | - |
2-198875464-G-A | PLCL1 | c.241-73018G>A | - | IntronicSNV | - | 1/5 |
7-2172455-G-A | MAD1L1 | c.1073+16332C>T | - | IntronicSNV | - | 11/18 |
1-110281941-G-A | GSTM3 | c.189+110C>T | - | IntronicSNV | - | 4/8 |
7-158710642-A-G | WDR60 | c.1792-789A>G | - | IntronicSNV | - | 14/24 |
16-67796315-A-C | RANBP10 | c.400+9622T>G | - | IntronicSNV | - | 3/13 |
8-144413416-G-A | TOP1MT | c.216C>T | p.Asp72Asp | Synonymous | 2/14 | - |
8-141526038-T-C | CHRAC1 | c.*692T>C | - | 3-UTRSNV | 3/3 | - |
9-136139265-C-T | ABO | c.29-1694G>A | - | IntronicSNV | - | 1/7 |
17-28576076-T-C | BLMH | c.1327A>G | p.Ile443Val | Missense | 12/12 | - |
3-134322742-A-G | KY | c.1665T>C | p.Leu555Leu | Synonymous | 11/11 | - |
2-191370268-A-G | NEMP2 | c.*3647T>C | - | IntergenicSNV | 9/9 | - |
1-1846765-G-A | CALML6 | c.27+19G>A | - | IntronicSNV | - | 1/5 |
6-143930768-T-C | PHACTR2 | c.13+1309T>C | - | IntronicSNV | - | 1/12 |
8-101226443-A-G | SPAG1 | c.1535+297A>G | - | IntronicSNV | - | 12/18 |
11-133809032-C-T | IGSF9B | c.410-1176G>A | - | IntronicSNV | - | 3/19 |
8-6386204-C-T | ANGPT2 | c.445-1007G>A | - | IntronicSNV | - | 2/8 |
17-56492800-T-C | RNF43 | c.139A>G | p.Ile47Val | Missense | 2/10 | - |
9-136538360-A-G | SARDH | c.2164-1541T>C | - | IntronicSNV | - | 17/20 |
15-78825562-C-T | HYKK | c.672C>T | p.His224His | Synonymous | 5/5 | - |
17-7118322-A-G | DLG4 | c.159+3238T>C | - | IntronicSNV | - | 3/21 |
16-4527109-T-C | HMOX2 | c.-160+621T>C | - | intron_variant | - | 1/6 |
12-110004040-C-T | MMAB | c.291-1059G>A | - | IntronicSNV | - | 3/8 |
19-16945205-G-A | SIN3B | c.381+2747G>A | - | IntronicSNV | - | 3/19 |
1-66102257-G-A | LEPR | c.3057G>A | p.Pro1019Pro | Synonymous | 20/20 | - |
4-140946828-C-T | MAML3 | c.468+127186G>A | - | IntronicSNV | - | 1/4 |
13-36848187-T-C | CCDC169 | c.315+9419A>G | - | IntronicSNV | - | 4/7 |
1-67653010-G-A | IL23R | c.491+4368G>A | - | IntronicSNV | - | 4/10 |
6-32410137-T-C | HLA-DRA | c.83-88T>C | - | IntronicSNV | - | 1/4 |
4-87690998-A-G | PTPN13 | c.4509A>G | p.Ile1503Met | Missense | 28/47 | - |
6-166878094-G-A | RPS6KA2 | c.973-5055C>T | - | IntronicSNV | - | 11/20 |
12-125814387-C-T | TMEM132B | c.52+3166C>T | - | IntronicSNV | - | 1/8 |
10-12676957-T-C | CAMK1D | c.225-31778T>C | - | IntronicSNV | - | 2/9 |
3-105441133-T-C | CBLB | c.1204-2039A>G | - | IntronicSNV | - | 9/18 |
3-105441133-T-A | CBLB | c.1204-2039A>T | - | IntronicSNV | - | 9/18 |
16-67911517-T-C | EDC4 | c.747T>C | p.Cys249Cys | Synonymous | 6/29 | - |
4-76903036-A-T | SDAD1 | c.195+50T>A | - | IntronicSNV | - | 2/21 |
11-47807774-T-C | NUP160 | c.3848+231A>G | - | IntronicSNV | - | 32/35 |
4-120508298-C-T | PDE5A | c.831+9380G>A | - | IntronicSNV | - | 3/20 |
17-43924073-T-C | SPPL2C | c.1801T>C | p.Ser601Pro | Missense | 1/1 | - |
6-31506801-G-A | DDX39B | c.339+123C>T | - | IntronicSNV | - | 3/10 |
19-37428465-T-G | ZNF568 | c.358+321T>G | - | IntronicSNV | - | 6/6 |
21-44323590-T-C | NDUFV3 | c.170-5384T>C | - | IntronicSNV | - | 2/2 |
21-44323590-T-A | NDUFV3 | c.170-5384T>A | - | IntronicSNV | - | 2/2 |
21-44323590-T-G | NDUFV3 | c.170-5384T>G | - | IntronicSNV | - | 2/2 |
4-120416445-C-T | PDE5A | c.*3311G>A | - | 3-UTRSNV | 21/21 | - |
5-112723567-A-G | MCC | c.171-2658T>C | - | IntronicSNV | - | 1/18 |
14-73355131-T-C | DPF3 | c.32+5634A>G | - | IntronicSNV | - | 1/10 |
2-234668570-C-T | UGT1A4 | c.868-7110C>T | - | IntronicSNV | - | 1/4 |
1-154437896-T-C | IL6R | c.*40T>C | - | 3-UTRSNV | 10/10 | - |
17-44187492-A-G | KANSL1 | c.1290-15425T>C | - | IntronicSNV | - | 2/14 |
4-38079475-A-G | TBC1D1 | c.2051-12078A>G | - | IntronicSNV | - | 12/19 |
2-24391129-A-C | FAM228B | c.*14+577A>C | - | intron_variant | - | 11/11 |
2-24391129-A-T | FAM228B | c.*14+577A>T | - | intron_variant | - | 11/11 |
3-186449916-T-C | KNG1 | c.758-375T>C | - | IntronicSNV | - | 6/9 |
11-18645843-C-A | SPTY2D1 | c.61-7307G>T | - | IntronicSNV | - | 1/5 |
8-642842-G-A | ERICH1 | c.170-230C>T | - | IntronicSNV | - | 2/5 |
16-4013467-C-T | ADCY9 | c.*2309G>A | - | 3-UTRSNV | 11/11 | - |
1-109389021-C-T | AKNAD1 | c.1245+2353G>A | - | IntronicSNV | - | 5/15 |
4-38046569-T-C | TBC1D1 | c.1542+458T>C | - | IntronicSNV | - | 9/19 |
10-104848123-G-A | NT5C2 | c.*1306C>T | - | 3-UTRSNV | 19/19 | - |
6-32059867-A-G | TNXB | c.2359-2711T>C | - | IntronicSNV | - | 4/43 |
15-86311695-G-T | KLHL25 | c.1347C>A | p.Phe449Leu | Missense | 2/3 | - |
19-44562928-A-G | ZNF223 | c.16-1680A>G | - | IntronicSNV | - | 2/4 |
13-44439169-T-C | CCDC122 | c.156+3661A>G | - | IntronicSNV | - | 4/6 |
2-219154781-G-A | TMBIM1 | c.-41+2408C>T | - | intron_variant | - | 1/11 |
1-230820021-A-G | COG2 | c.1228+640A>G | - | IntronicSNV | - | 11/17 |
4-48999842-G-A | CWH43 | c.714-635G>A | - | IntronicSNV | - | 5/15 |
19-41932120-C-T | B3GNT8 | c.564G>A | p.Val188Val | Synonymous | 3/3 | - |
12-112245170-A-C | ALDH2 | c.1522-2177A>C | - | IntronicSNV | - | 12/12 |
16-10208218-G-T | GRIN2A | c.414+65637C>A | - | IntronicSNV | - | 3/13 |
7-1053958-C-T | C7orf50 | c.130-4179G>A | - | IntronicSNV | - | 2/4 |
10-94354204-T-C | KIF11 | c.77+995T>C | - | IntronicSNV | - | 1/21 |
10-94354204-T-G | KIF11 | c.77+995T>G | - | IntronicSNV | - | 1/21 |
3-129201692-A-G | IFT122 | c.1477-636A>G | - | IntronicSNV | - | 13/28 |
7-30673345-C-T | GARS | c.2095-6C>T | - | IntronicSNV | - | 16/16 |
7-75696420-A-G | MDH2 | c.*692A>G | - | IntergenicSNV | 9/9 | - |
15-78833758-G-A | PSMA4 | c.1-512G>A | - | IntronicSNV | - | 1/8 |
15-78833758-G-C | PSMA4 | c.1-512G>C | - | IntronicSNV | - | 1/8 |
5-1052360-C-T | SLC12A7 | c.*115G>A | - | 3-UTRSNV | 24/24 | - |
2-204292517-T-A | ABI2 | c.*442T>A | - | 3-UTRSNV | 10/10 | - |
1-237048676-G-T | MTR | c.2775+157G>T | - | IntronicSNV | - | 26/32 |
2-204292517-T-C | ABI2 | c.*442T>C | - | 3-UTRSNV | 10/10 | - |
17-30281992-T-C | SUZ12 | c.455+7288T>C | - | IntronicSNV | - | 4/15 |
1-23112369-A-C | EPHB2 | c.811+800A>C | - | IntronicSNV | - | 3/15 |
X-44184600-T-C | EFHC2 | c.43-12598A>G | - | IntronicSNV | - | 1/14 |
7-1882227-C-A | MAD1L1 | c.1999-26363G>T | - | IntronicSNV | - | 18/18 |
4-100058727-C-T | ADH4 | c.351-879G>A | - | IntronicSNV | - | 4/8 |
1-150938571-G-A | CERS2 | c.*53C>T | - | 3-UTRSNV | 11/11 | - |
15-78871288-T-C | CHRNA5 | c.107-1865T>C | - | IntronicSNV | - | 1/5 |
2-219541056-T-C | STK36 | c.684+55T>C | - | IntronicSNV | - | 6/26 |
2-55798108-C-T | PPP4R3B | c.1510-2609G>A | - | intron_variant | - | 10/14 |
17-6483046-T-A | KIAA0753 | c.*21A>T | - | 3-UTRSNV | 19/19 | - |
17-6483046-T-C | KIAA0753 | c.*21A>G | - | 3-UTRSNV | 19/19 | - |
17-56585872-G-T | MTMR4 | c.508C>A | p.Leu170Met | Missense | 7/19 | - |
7-2753725-C-T | AMZ1 | c.*1213C>T | - | 3-UTRSNV | 7/7 | - |
7-100070758-T-C | TSC22D4 | c.929+1139A>G | - | IntronicSNV | - | 3/4 |
17-7395549-A-G | POLR2A | c.94-3711A>G | - | IntronicSNV | - | 1/28 |
19-38249671-A-C | ZNF573 | c.1-435T>G | - | IntronicSNV | - | 1/7 |
19-38249671-A-T | ZNF573 | c.1-435T>A | - | IntronicSNV | - | 1/7 |
14-90753556-A-G | NRDE2 | c.3159-720T>C | - | IntronicSNV | - | 11/13 |
4-87754419-C-T | SLC10A6 | c.496+40G>A | - | IntronicSNV | - | 2/5 |
19-9878695-T-C | ZNF846 | c.-86+270A>G | - | intron_variant | - | 1/5 |
19-33106621-C-T | ANKRD27 | c.2118G>A | p.Ala706Ala | Synonymous | 22/29 | - |
17-6538355-G-A | KIAA0753 | c.69C>T | p.Ser23Ser | Synonymous | 2/19 | - |
2-3645429-C-T | COLEC11 | c.-27+2671C>T | - | intron_variant | - | 1/6 |
11-791462-G-A | SLC25A22 | c.*453C>T | - | 3-UTRSNV | 10/10 | - |
4-100054970-A-C | ADH4 | c.583-2055T>G | - | IntronicSNV | - | 5/8 |
4-100054970-A-G | ADH4 | c.583-2055T>C | - | IntronicSNV | - | 5/8 |
12-31241345-A-G | DDX11 | c.684+428A>G | - | IntronicSNV | - | 6/26 |
10-54529257-A-G | MBL2 | c.305-182T>C | - | IntronicSNV | - | 2/3 |
2-109893210-G-A | SH3RF3 | c.574-70920G>A | - | IntronicSNV | - | 1/9 |
19-44532767-G-A | ZNF222 | c.262+1125G>A | - | IntronicSNV | - | 3/3 |
17-35632979-C-A | ACACA | c.692-37G>T | - | IntronicSNV | - | 7/55 |
5-1416646-G-A | SLC6A3 | c.928-330C>T | - | IntronicSNV | - | 6/14 |
5-74382081-G-A | ANKRD31 | c.5302-1882C>T | - | IntronicSNV | - | 22/24 |
17-78591111-A-C | RPTOR | c.163-8380A>C | - | IntronicSNV | - | 1/33 |
3-15737610-T-C | ANKRD28 | c.1569+31A>G | - | IntronicSNV | - | 15/27 |
3-15737610-T-G | ANKRD28 | c.1569+31A>C | - | IntronicSNV | - | 15/27 |
6-116314634-C-A | FRK | c.466+10406G>T | - | IntronicSNV | - | 2/7 |
6-116314634-C-T | FRK | c.466+10406G>A | - | IntronicSNV | - | 2/7 |
7-101256833-T-C | MYL10 | c.603A>G | p.Ala201Ala | Synonymous | 8/8 | - |
2-55843413-C-T | PPP4R3B | c.142-771G>A | - | intron_variant | - | 1/14 |
17-30311492-G-T | SUZ12 | c.1023+1369G>T | - | IntronicSNV | - | 9/15 |
1-153618766-C-T | CHTOP | c.*1021C>T | - | 3-UTRSNV | 6/6 | - |
17-78676905-T-C | RPTOR | c.349-4736T>C | - | IntronicSNV | - | 3/33 |
17-41328095-A-T | NBR1 | c.102+177A>T | - | IntronicSNV | - | 2/20 |
X-117925898-A-G | IL13RA1 | c.*81A>G | - | 3-UTRSNV | 11/11 | - |
8-38853983-C-A | TM2D2 | c.-543G>T | - | 5_prime_UTR_variant | 1/4 | - |
X-44191332-G-A | EFHC2 | c.42+11461C>T | - | IntronicSNV | - | 1/14 |
17-41328095-A-G | NBR1 | c.102+177A>G | - | IntronicSNV | - | 2/20 |
6-46675025-C-A | PLA2G7 | c.1040+703G>T | - | IntronicSNV | - | 10/11 |
2-178682655-A-G | PDE11A | c.245-3T>C | - | IntronicSNV | - | 4/16 |
1-231531627-T-C | EGLN1 | c.892-21782A>G | - | IntronicSNV | - | 1/4 |
3-105469882-T-C | CBLB | c.723+424A>G | - | IntronicSNV | - | 5/18 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-47650993-C-T | MTCH2 | c.540-395G>A | - | IntronicSNV | - | 8/12 |
19-33157003-C-T | ANKRD27 | c.1-7082G>A | - | IntronicSNV | - | 1/28 |
1-85719610-T-C | C1orf52 | c.476-1225A>G | - | IntronicSNV | - | 2/2 |
X-106396455-A-G | NUP62CL | c.477T>C | p.Arg159Arg | Synonymous | 7/9 | - |
2-70446785-A-T | TIA1 | c.442-2659T>A | - | IntronicSNV | - | 6/11 |
4-120491714-A-G | PDE5A | c.832-3415T>C | - | IntronicSNV | - | 3/20 |
6-29693969-C-T | HLA-F | c.1036+149C>T | - | IntronicSNV | - | 6/6 |
15-83428193-G-A | FSD2 | c.2157C>T | p.His719His | Synonymous | 13/13 | - |
15-83428193-G-T | FSD2 | c.2157C>A | p.His719Gln | Missense | 13/13 | - |
12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
12-121157604-G-A | UNC119B | c.644-119G>A | - | IntronicSNV | - | 4/4 |
1-150659545-G-A | GOLPH3L | c.183+7587C>T | - | IntronicSNV | - | 2/4 |
7-44085535-T-C | DBNL | c.83+1116T>C | - | IntronicSNV | - | 1/12 |
19-33105743-G-A | ANKRD27 | c.2175+821C>T | - | IntronicSNV | - | 22/28 |
3-46299765-A-G | CCR3 | c.1-6130A>G | - | IntronicSNV | - | 1/2 |
8-80841972-T-A | MRPS28 | c.396-10589A>T | - | IntronicSNV | - | 2/2 |
10-104638723-T-A | AS3MT | c.860T>A | p.Met287Lys | Missense | 9/11 | - |
8-38840300-T-C | HTRA4 | c.1173-172T>C | - | IntronicSNV | - | 7/8 |
2-69042093-T-C | ARHGAP25 | c.784-1328T>C | - | IntronicSNV | - | 5/9 |
2-69042093-T-G | ARHGAP25 | c.784-1328T>G | - | IntronicSNV | - | 5/9 |
2-234628529-T-C | UGT1A4 | c.867+196T>C | - | IntronicSNV | - | 1/4 |
6-31947460-G-T | STK19 | c.803+130G>T | - | IntronicSNV | - | 5/7 |
12-88949124-G-A | KITLG | c.16-9482C>T | - | IntronicSNV | - | 1/8 |
17-4763551-T-G | MINK1 | c.58-18061T>G | - | IntronicSNV | - | 1/30 |
16-89553707-A-G | ANKRD11 | c.-145+2946T>C | - | intron_variant | - | 1/12 |
15-42846553-C-A | HAUS2 | c.94-3843C>A | - | IntronicSNV | - | 1/5 |
15-78837801-G-A | PSMA4 | c.377-175G>A | - | IntronicSNV | - | 6/8 |
1-78578177-T-C | GIPC2 | c.608-6900T>C | - | IntronicSNV | - | 3/5 |
11-117731136-G-A | FXYD6-FXYD2 | c.-6+16171C>T | - | intron_variant | - | 1/10 |
20-44333052-A-G | WFDC13 | c.89-31A>G | - | IntronicSNV | - | 1/3 |
1-150679033-G-A | HORMAD1 | c.800C>T | p.Thr267Ile | Missense | 10/15 | - |
1-182358358-A-G | GLUL | c.1-486T>C | - | IntronicSNV | 1/8 | - |
1-182358358-A-C | GLUL | c.1-486T>G | - | IntronicSNV | 1/8 | - |
2-198713231-G-A | PLCL1 | c.240+43168G>A | - | IntronicSNV | - | 1/5 |
6-33178010-G-T | RING1 | c.455+103G>T | - | IntronicSNV | - | 4/6 |
2-136707480-A-G | DARS | c.321-6430T>C | - | IntronicSNV | - | 4/15 |
2-187697883-A-G | ZSWIM2 | c.905T>C | p.Ile302Thr | Missense | 7/9 | - |
7-75628101-C-A | STYXL1 | c.810+2107G>T | - | IntronicSNV | - | 8/8 |
12-121160615-A-C | UNC119B | c.*2780A>C | - | 3-UTRSNV | 5/5 | - |
12-121160615-A-G | UNC119B | c.*2780A>G | - | 3-UTRSNV | 5/5 | - |
5-177020032-G-A | TMED9 | c.285+356G>A | - | IntronicSNV | - | 2/4 |
10-35641571-G-A | CCNY | c.-9+102017G>A | - | intron_variant | - | 3/11 |
1-43416133-T-C | SLC2A1 | c.19-7141A>G | - | IntronicSNV | - | 1/9 |
6-32191620-C-T | NOTCH4 | c.73+13G>A | - | IntronicSNV | - | 1/29 |
12-129556460-T-C | TMEM132D | c.*1960A>G | - | 3-UTRSNV | 9/9 | - |
3-195477791-G-A | MUC4 | c.15840C>T | p.Ile5280Ile | Synonymous | 23/25 | - |
16-89488587-T-G | ANKRD11 | c.-144-3811A>C | - | intron_variant | - | 1/12 |
16-89488587-T-A | ANKRD11 | c.-144-3811A>T | - | intron_variant | - | 1/12 |
12-123799974-A-C | SBNO1 | c.3063T>G | p.Gly1021Gly | Synonymous | 23/32 | - |
12-123799974-A-G | SBNO1 | c.3063T>C | p.Gly1021Gly | Synonymous | 23/32 | - |
15-83219340-G-A | CPEB1 | c.1201-932C>T | - | IntronicSNV | - | 8/11 |
2-219147245-T-C | TMBIM1 | c.1-381A>G | - | IntronicSNV | - | 1/11 |
2-219147245-T-G | TMBIM1 | c.1-381A>C | - | IntronicSNV | - | 1/11 |
17-41196408-G-A | BRCA1 | c.*1287C>T | - | 3-UTRSNV | 23/23 | - |
17-56584205-A-G | MTMR4 | c.890T>C | p.Val297Ala | Missense | 10/19 | - |
7-99691747-C-G | MCM7 | c.1320+49G>C | - | IntronicSNV | - | 12/13 |
7-99691747-C-A | MCM7 | c.1320+49G>T | - | IntronicSNV | - | 12/13 |
6-31237406-G-T | HLA-C | c.1016-104C>A | - | IntronicSNV | - | 5/7 |
6-31237406-G-A | HLA-C | c.1016-104C>T | - | IntronicSNV | - | 5/7 |
4-120522038-T-C | PDE5A | c.742-4271A>G | - | IntronicSNV | - | 2/20 |
4-174165126-C-G | GALNT7 | c.127-4005C>G | - | IntronicSNV | - | 1/11 |
4-174165126-C-T | GALNT7 | c.127-4005C>T | - | IntronicSNV | - | 1/11 |
11-133811160-C-T | IGSF9B | c.409+2955G>A | - | IntronicSNV | - | 3/19 |
16-9938796-C-T | GRIN2A | c.1329-3835G>A | - | IntronicSNV | - | 6/13 |
11-898155-T-C | CHID1 | c.608+1185A>G | - | IntronicSNV | - | 7/12 |
12-49318800-G-C | FKBP11 | c.195+29C>G | - | IntronicSNV | - | 2/5 |
21-44269654-C-T | WDR4 | c.*505G>A | - | 3-UTRSNV | 11/11 | - |
1-67442275-C-T | MIER1 | c.994-3C>T | - | IntronicSNV | - | 12/14 |
18-31316169-C-T | ASXL3 | c.1082+1790C>T | - | IntronicSNV | - | 10/11 |
2-234637569-A-G | UGT1A4 | c.867+9236A>G | - | IntronicSNV | - | 1/4 |
2-86296566-C-T | POLR1A | c.1866+575G>A | - | IntronicSNV | - | 13/33 |
12-88958350-C-T | KITLG | c.15+15691G>A | - | IntronicSNV | - | 1/8 |
6-33055242-C-T | HLA-DPB1 | c.*1227C>T | - | 3-UTRSNV | 6/6 | - |
4-57797414-C-T | REST | c.2390C>T | p.Pro797Leu | Missense | 4/4 | - |
3-195048814-A-T | ACAP2 | c.670-1126T>A | - | IntronicSNV | - | 8/22 |
22-30736147-G-A | SF3A1 | c.1375+38C>T | - | IntronicSNV | - | 9/15 |
10-124235059-G-A | HTRA1 | c.473-13359G>A | - | IntronicSNV | - | 1/8 |
6-30879987-C-T | GTF2H4 | c.958+64C>T | - | IntronicSNV | - | 10/13 |
18-77501317-G-A | CTDP1 | c.2747+4796G>A | - | IntronicSNV | - | 12/12 |
5-176814656-G-A | SLC34A1 | c.533-107G>A | - | IntronicSNV | - | 5/12 |
4-120502461-T-C | PDE5A | c.832-14162A>G | - | IntronicSNV | - | 3/20 |
7-45757343-G-A | ADCY1 | c.*3749G>A | - | 3-UTRSNV | 20/20 | - |
8-22200148-A-C | PIWIL2 | c.2404-10324A>C | - | IntronicSNV | - | 20/22 |
8-22200148-A-G | PIWIL2 | c.2404-10324A>G | - | IntronicSNV | - | 20/22 |
6-31929014-A-C | SKIV2L | c.640A>C | p.Met214Leu | Missense | 8/28 | - |
17-80627639-G-A | RAB40B | c.143-5207C>T | - | IntronicSNV | - | 1/5 |
5-74490547-T-C | ANKRD31 | c.1017+909A>G | - | IntronicSNV | - | 7/24 |
9-123683982-G-T | TRAF1 | c.228+2001C>A | - | IntronicSNV | - | 3/7 |
1-85902045-C-T | DDAH1 | c.-7+59804G>A | - | intron_variant | - | 2/6 |
17-14048767-G-A | COX10 | c.625-14427G>A | - | IntronicSNV | - | 4/6 |
6-32050758-C-T | TNXB | c.3446-655G>A | - | IntronicSNV | - | 8/43 |
7-99983135-C-T | PILRA | c.455-4376C>T | - | IntronicSNV | - | 2/6 |
7-1125893-A-T | C7orf50 | c.129+41000T>A | - | IntronicSNV | - | 2/4 |
17-10081297-G-A | GAS7 | c.183+20228C>T | - | IntronicSNV | - | 1/13 |
2-240009080-T-C | HDAC4 | c.2429+175A>G | - | IntronicSNV | - | 19/26 |
1-231477442-A-G | SPRTN | c.321+1828A>G | - | IntronicSNV | - | 2/4 |
9-140677678-T-C | EHMT1 | c.2382+829T>C | - | IntronicSNV | - | 15/26 |
8-22169087-A-G | PIWIL2 | c.1989+274A>G | - | IntronicSNV | - | 16/22 |
17-78057851-G-A | CCDC40 | c.1990-691G>A | - | IntronicSNV | - | 12/17 |
4-6957332-G-A | TBC1D14 | c.723-11699G>A | - | IntronicSNV | - | 2/13 |
17-76495050-C-T | DNAH17 | c.5745+40G>A | - | IntronicSNV | - | 37/80 |
1-202733238-C-T | KDM5B | c.747G>A | p.Thr249Thr | Synonymous | 6/27 | - |
10-124234880-C-A | HTRA1 | c.472+13240C>A | - | IntronicSNV | - | 1/8 |
X-44191892-C-T | EFHC2 | c.42+10901G>A | - | IntronicSNV | - | 1/14 |
6-31505480-A-G | DDX39B | c.433-1020T>C | - | IntronicSNV | - | 4/10 |
11-108724639-G-A | DDX10 | c.2304+1703G>A | - | IntronicSNV | - | 16/17 |
6-166877532-C-T | RPS6KA2 | c.973-4493G>A | - | IntronicSNV | - | 11/20 |
17-43493101-G-A | ARHGAP27 | c.1-10018C>T | - | IntronicSNV | - | 1/16 |
7-75611149-G-A | POR | c.731+225G>A | - | IntronicSNV | - | 7/15 |
6-29648506-G-A | ZFP57 | c.-364+333C>T | - | intron_variant | - | 1/4 |
12-75785100-C-T | GLIPR1L2 | c.204C>T | p.Val68Val | Synonymous | 1/4 | - |
2-234672722-T-A | UGT1A1 | c.864+2925T>A | - | IntronicSNV | - | 1/4 |
6-31851234-A-G | EHMT2 | c.2917-18T>C | - | IntronicSNV | - | 22/27 |
6-30652781-C-T | PPP1R18 | c.1015G>A | p.Gly339Arg | Missense | 1/3 | - |
4-48999842-G-T | CWH43 | c.714-635G>T | - | IntronicSNV | - | 5/15 |
1-21024743-G-A | KIF17 | c.1233+129C>T | - | IntronicSNV | - | 6/14 |
2-234637192-C-T | UGT1A4 | c.867+8859C>T | - | IntronicSNV | - | 1/4 |
18-74692336-A-G | MBP | c.*47T>C | - | 3-UTRSNV | 7/7 | - |
3-41960006-T-C | ULK4 | c.670A>G | p.Ile224Val | Missense | 7/37 | - |
19-33164759-C-T | ANKRD27 | c.-31+1218G>A | - | intron_variant | - | 1/28 |
4-120155096-C-T | USP53 | c.1-5819C>T | - | IntronicSNV | - | 3/17 |
X-106462267-C-T | PIH1D3 | c.332+68C>T | - | IntronicSNV | - | 4/6 |
2-191366579-T-G | MFSD6 | c.*1635T>G | - | 3-UTRSNV | 8/8 | - |
12-88904764-C-T | KITLG | c.521-3850G>A | - | IntronicSNV | - | 5/8 |
16-17469494-T-G | XYLT1 | c.364-17587A>C | - | IntronicSNV | - | 1/11 |
16-461762-T-C | DECR2 | c.*1-128T>C | - | intron_variant | - | 8/8 |
6-31636742-A-G | CSNK2B | c.292-132A>G | - | IntronicSNV | - | 4/6 |
6-33613344-G-A | ITPR3 | c.160+5013G>A | - | IntronicSNV | - | 2/57 |
4-174130503-T-C | GALNT7 | c.127-38628T>C | - | IntronicSNV | - | 1/11 |
4-174130503-T-G | GALNT7 | c.127-38628T>G | - | IntronicSNV | - | 1/11 |
1-1721479-C-T | GNB1 | c.699+355G>A | - | IntronicSNV | - | 9/11 |
3-15873052-C-T | ANKRD28 | c.27+27832G>A | - | IntronicSNV | - | 1/27 |
17-80680449-G-T | FN3KRP | c.386-231G>T | - | IntronicSNV | - | 3/5 |
13-25009297-G-T | PARP4 | c.3982C>A | p.Pro1328Thr | Missense | 31/34 | - |
6-30168319-G-T | TRIM26 | c.-162+493C>A | - | intron_variant | - | 3/9 |
10-3148116-C-T | PFKP | c.774+423C>T | - | IntronicSNV | - | 7/21 |
3-195048814-A-G | ACAP2 | c.670-1126T>C | - | IntronicSNV | - | 8/22 |
2-3668126-C-A | COLEC11 | c.202+7154C>A | - | IntronicSNV | - | 3/6 |
2-3668126-C-T | COLEC11 | c.202+7154C>T | - | IntronicSNV | - | 3/6 |
7-100072031-T-C | TSC22D4 | c.795A>G | p.Pro265Pro | Synonymous | 3/5 | - |
11-108673298-C-T | DDX10 | c.1966-35875C>T | - | IntronicSNV | - | 13/17 |
1-231535584-C-T | EGLN1 | c.891+21160G>A | - | IntronicSNV | - | 1/4 |
1-231535584-C-G | EGLN1 | c.891+21160G>C | - | IntronicSNV | - | 1/4 |
10-94294291-A-G | IDE | c.491+44T>C | - | IntronicSNV | - | 3/24 |
19-50028040-T-A | FCGRT | c.871+7T>A | - | IntronicSNV | - | 5/6 |
19-50028040-T-G | FCGRT | c.871+7T>G | - | IntronicSNV | - | 5/6 |
10-88530481-C-A | BMPR1A | c.-268+13805C>A | - | intron_variant | - | 1/12 |
7-30544360-G-A | GGCT | c.1-35C>T | - | 5-UTRSNV | 1/4 | - |
3-129274363-G-A | PLXND1 | c.*792C>T | - | 3-UTRSNV | 36/36 | - |
6-96999725-C-T | UFL1 | c.1911C>T | p.Asp637Asp | Synonymous | 17/19 | - |
2-198572461-C-T | MARS2 | c.*550C>T | - | 3-UTRSNV | 1/1 | - |
7-99998607-G-A | ZCWPW1 | c.*30C>T | - | 3-UTRSNV | 18/18 | - |
11-65665200-C-T | FOSL1 | c.100-723G>A | - | IntronicSNV | - | 1/3 |
8-145031265-G-A | PLEC | c.193+18080C>T | - | IntronicSNV | - | 2/32 |
14-90754006-G-A | NRDE2 | c.3158+555C>T | - | IntronicSNV | - | 11/13 |
6-32050544-C-T | TNXB | c.3446-441G>A | - | IntronicSNV | - | 8/43 |
1-202696247-C-G | KDM5B | c.*1917G>C | - | IntergenicSNV | 27/27 | - |
1-202696247-C-T | KDM5B | c.*1917G>A | - | IntergenicSNV | 27/27 | - |
18-77458037-T-C | CTDP1 | c.621+49T>C | - | IntronicSNV | - | 4/12 |
6-29408528-A-G | OR10C1 | c.736A>G | p.Met246Val | Missense | 1/1 | - |
6-29408528-A-C | OR10C1 | c.736A>C | p.Met246Leu | Missense | 1/1 | - |
6-29408528-A-T | OR10C1 | c.736A>T | p.Met246Leu | Missense | 1/1 | - |
19-50396263-T-C | IL4I1 | c.633+1262A>G | - | IntronicSNV | - | 7/9 |
16-2740841-A-G | KCTD5 | c.253-5095A>G | - | IntronicSNV | - | 1/5 |
8-22147333-A-G | PIWIL2 | c.987-27A>G | - | IntronicSNV | - | 8/22 |
6-33162082-T-A | RXRB | c.*377A>T | - | 3-UTRSNV | 10/10 | - |
8-145618309-G-A | ADCK5 | c.*20G>A | - | 3-UTRSNV | 15/15 | - |
5-176823647-G-A | SLC34A1 | c.1175-87G>A | - | IntronicSNV | - | 10/12 |
7-1868092-A-G | MAD1L1 | c.1999-12228T>C | - | IntronicSNV | - | 18/18 |
9-138947167-A-G | NACC2 | c.1-4800T>C | - | IntronicSNV | - | 1/5 |
6-31137165-A-G | POU5F1 | c.405+828T>C | - | IntronicSNV | - | 1/4 |
9-138947167-A-C | NACC2 | c.1-4800T>G | - | IntronicSNV | - | 1/5 |
2-219126651-C-T | GPBAR1 | c.1-797C>T | - | IntronicSNV | 1/2 | - |
6-46623698-T-C | SLC25A27 | c.225T>C | p.Ala75Ala | Synonymous | 2/9 | - |
1-25688276-A-G | TMEM50A | c.*1080A>G | - | 3-UTRSNV | 7/7 | - |
12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
1-25688276-A-T | TMEM50A | c.*1080A>T | - | 3-UTRSNV | 7/7 | - |
6-32096001-C-G | ATF6B | c.1-17G>C | - | 5-UTRSNV | 1/18 | - |
17-41326087-T-G | NBR1 | c.1-1730T>G | - | IntronicSNV | - | 1/20 |
17-30361629-T-C | LRRC37B | c.1977-300T>C | - | IntronicSNV | - | 5/11 |
15-80190308-A-G | ST20-MTHFS | c.46-8612T>C | - | IntronicSNV | - | 2/3 |
1-111682118-C-T | DRAM2 | c.-79+542G>A | - | intron_variant | - | 1/8 |
8-38901877-T-C | ADAM9 | c.1302+2241T>C | - | IntronicSNV | - | 12/21 |
17-44865439-T-G | WNT3 | c.81-14164A>C | - | IntronicSNV | - | 1/4 |
6-133135807-C-T | RPS12 | c.-38+55C>T | - | intron_variant | - | 1/5 |
6-25830298-A-G | SLC17A1 | c.34+454T>C | - | IntronicSNV | - | 2/12 |
2-132234986-A-G | TUBA3D | c.4-751A>G | - | IntronicSNV | - | 1/4 |
12-133423695-A-T | CHFR | c.1705T>A | p.Leu569Met | Missense | 15/18 | - |
11-18632984-T-C | SPTY2D1 | c.1964+40A>G | - | IntronicSNV | - | 5/5 |
9-136536633-G-C | SARDH | c.2326+24C>G | - | IntronicSNV | - | 18/20 |
11-77774599-T-C | NDUFC2-KCTD14 | c.310+9445A>G | - | IntronicSNV | - | 2/3 |
6-26104280-T-C | HIST1H4C | c.105T>C | p.Ile35Ile | Synonymous | 1/1 | - |
9-136536633-G-A | SARDH | c.2326+24C>T | - | IntronicSNV | - | 18/20 |
6-31133943-C-A | POU5F1 | c.406-119G>T | - | IntronicSNV | - | 1/4 |
1-150792616-A-G | ARNT | c.1350-2110T>C | - | IntronicSNV | - | 13/20 |
2-198925980-A-G | PLCL1 | c.241-22502A>G | - | IntronicSNV | - | 1/5 |
2-132248876-A-G | MZT2A | c.319+573T>C | - | IntronicSNV | - | 2/2 |
3-158314188-T-C | MLF1 | c.196-463T>C | - | IntronicSNV | - | 2/6 |
2-171920785-C-G | TLK1 | c.331-3119G>C | - | IntronicSNV | - | 3/20 |
19-9766035-C-T | ZNF562 | c.132+1188G>A | - | IntronicSNV | - | 3/3 |
13-53191674-A-C | HNRNPA1L2 | c.-1004A>C | - | 5_prime_UTR_variant | 1/7 | - |
13-53191674-A-G | HNRNPA1L2 | c.-1004A>G | - | 5_prime_UTR_variant | 1/7 | - |
7-1886937-C-T | MAD1L1 | c.1999-31073G>A | - | IntronicSNV | - | 18/18 |
12-109514942-T-C | USP30 | c.720+3605T>C | - | IntronicSNV | - | 7/12 |
14-72665647-T-G | RGS6 | c.85-153156T>G | - | IntronicSNV | - | 2/17 |
14-72665647-T-C | RGS6 | c.85-153156T>C | - | IntronicSNV | - | 2/17 |
6-30080231-G-A | TRIM31 | c.352C>T | p.Arg118Cys | Missense | 2/9 | - |
6-30080231-G-C | TRIM31 | c.352C>G | p.Arg118Gly | Missense | 2/9 | - |
17-6515387-A-G | KIAA0753 | c.1397T>C | p.Leu466Pro | Missense | 8/19 | - |
12-9352459-G-A | PZP | c.755+501C>T | - | IntronicSNV | - | 7/35 |
18-56362913-G-A | MALT1 | c.377-685G>A | - | IntronicSNV | - | 2/16 |
18-44700703-A-G | IER3IP1 | c.91+1855T>C | - | IntronicSNV | - | 1/2 |
19-41932612-C-G | B3GNT8 | c.72G>C | p.Glu24Asp | Missense | 3/3 | - |
3-10234065-G-T | IRAK2 | c.278-7988G>T | - | IntronicSNV | - | 2/12 |
6-116263181-T-C | FRK | c.*396A>G | - | 3-UTRSNV | 8/8 | - |
3-41996136-T-C | ULK4 | c.116A>G | p.Lys39Arg | Missense | 2/37 | - |
16-67879400-G-A | CENPT | c.-492+1904C>T | - | intron_variant | - | 1/15 |
6-30041009-A-G | RNF39 | c.607T>C | p.Ser203Pro | Missense | 3/5 | - |
6-116309649-T-C | FRK | c.466+15391A>G | - | IntronicSNV | - | 2/7 |
8-48322002-T-C | SPIDR | c.877+1479T>C | - | IntronicSNV | - | 7/19 |
2-188243633-A-G | CALCRL | c.500+34T>C | - | IntronicSNV | - | 8/14 |
17-44073889-A-G | MAPT | c.1632A>G | p.Ala544Ala | Synonymous | 10/14 | - |
6-31917540-T-C | CFB | c.1408+206T>C | - | IntronicSNV | - | 10/17 |
6-33056897-C-T | HLA-DPB1 | c.*2586C>T | - | 3_prime_UTR_variant | 6/6 | - |
3-69383013-A-G | FRMD4B | c.163-20345T>C | - | IntronicSNV | - | 1/22 |
3-69383013-A-T | FRMD4B | c.163-20345T>A | - | IntronicSNV | - | 1/22 |
8-11643803-C-A | NEIL2 | c.*21C>A | - | 3-UTRSNV | 5/5 | - |
15-82564555-C-T | SAXO2 | c.253+412C>T | - | IntronicSNV | - | 2/2 |
4-91516422-C-T | CCSER1 | c.1725-32754C>T | - | IntronicSNV | - | 5/10 |
6-31377047-C-T | MICA | c.71-1273C>T | - | IntronicSNV | - | 1/5 |
6-170152991-G-A | ERMARD | c.7-969G>A | - | IntronicSNV | - | 1/17 |
1-150677719-C-T | HORMAD1 | c.805-900G>A | - | IntronicSNV | - | 10/14 |
15-50806469-C-T | USP8 | c.*15184C>T | - | IntergenicSNV | 20/20 | - |
5-81297077-A-G | ATG10 | c.108+13580A>G | - | IntronicSNV | - | 3/8 |
17-41244435-T-C | BRCA1 | c.3113A>G | p.Glu1038Gly | Missense | 10/23 | - |
10-104846797-C-T | CNNM2 | c.*9860C>T | - | IntergenicSNV | 8/8 | - |
1-26621101-G-A | UBXN11 | c.334-279C>T | - | IntronicSNV | - | 7/14 |
6-31475127-A-G | MICB | c.892+50A>G | - | IntronicSNV | - | 4/5 |
16-4942099-C-T | PPL | c.1766G>A | p.Arg589Gln | Missense | 15/22 | - |
9-136137106-G-A | ABO | c.99-329C>T | - | IntronicSNV | - | 2/7 |
6-33048661-A-G | HLA-DPB1 | c.313A>G | p.Met105Val | Missense | 2/6 | - |
1-76210289-C-T | ACADM | c.600-1202C>T | - | IntronicSNV | - | 7/11 |
1-202760658-T-C | KDM5B | c.205-14436A>G | - | IntronicSNV | - | 1/26 |
11-47529947-C-A | CELF1 | c.1-19381G>T | - | IntronicSNV | - | 1/13 |
16-57005479-C-A | CETP | c.658+186C>A | - | IntronicSNV | - | 7/15 |
19-44564671-CT-GC | ZNF223 | c.79_80delCTinsGC | p.Leu27Ala | Missense | 3/5 | - |
6-32407709-C-A | HLA-DRA | c.1-19C>A | - | 5-UTRSNV | 1/5 | - |
1-78392446-G-A | NEXN | c.733G>A | p.Gly245Arg | Missense | 8/13 | - |
7-43805932-A-G | BLVRA | c.1-4826A>G | - | IntronicSNV | - | 1/7 |
2-198946551-G-A | PLCL1 | c.241-1931G>A | - | IntronicSNV | - | 1/5 |
6-25849620-A-T | SLC17A3 | c.1344T>A | p.Ser448Arg | Missense | 11/13 | - |
7-1882227-C-T | MAD1L1 | c.1999-26363G>A | - | IntronicSNV | - | 18/18 |
8-145603114-A-C | ADCK5 | c.51A>C | p.Arg17Ser | Missense | 2/15 | - |
17-40763386-A-C | TUBG1 | c.331-707A>C | - | IntronicSNV | - | 3/10 |
5-140530529-G-A | PCDHB6 | c.691G>A | p.Val231Ile | Missense | 1/1 | - |
4-509850-T-C | PIGG | c.990T>C | p.Ser330Ser | Synonymous | 6/13 | - |
8-11628162-G-T | NEIL2 | c.-3+318G>T | - | intron_variant | - | 1/4 |
7-65546062-C-T | ASL | c.13-728C>T | - | IntronicSNV | - | 2/16 |
17-43902997-G-A | CRHR1 | c.328-3584G>A | - | IntronicSNV | - | 4/13 |
4-120538823-G-A | PDE5A | c.153-10371C>T | - | IntronicSNV | - | 1/20 |
16-89480760-A-T | ANKRD11 | c.-60+3932T>A | - | intron_variant | - | 2/12 |
16-89480760-A-G | ANKRD11 | c.-60+3932T>C | - | intron_variant | - | 2/12 |
1-151173113-A-G | PIP5K1A | c.85+1556A>G | - | IntronicSNV | - | 1/14 |
7-99792666-A-G | STAG3 | c.868-266A>G | - | IntronicSNV | - | 8/33 |
11-108437928-T-G | EXPH5 | c.120-25389A>C | - | IntronicSNV | - | 1/5 |
12-88946777-G-A | KITLG | c.16-7135C>T | - | IntronicSNV | - | 1/8 |
5-170369601-T-C | RANBP17 | c.1469-11000T>C | - | IntronicSNV | - | 12/27 |
5-170369601-T-A | RANBP17 | c.1469-11000T>A | - | IntronicSNV | - | 12/27 |
9-130727677-C-T | FAM102A | c.147-11473G>A | - | IntronicSNV | - | 1/10 |
2-55886602-T-C | PNPT1 | c.1284+690A>G | - | IntronicSNV | - | 15/27 |
11-19848022-T-C | NAV2 | c.268-6008T>C | - | IntronicSNV | - | 1/37 |
17-40835922-A-G | CNTNAP1 | c.151A>G | p.Arg51Gly | Missense | 2/24 | - |
19-10668673-A-C | KRI1 | c.1334T>G | - | missense_variant | 14/19 | - |
1-150800655-A-G | ARNT | c.1122+914T>C | - | IntronicSNV | - | 11/20 |
11-72431679-T-C | ARAP1 | c.509+5986A>G | - | IntronicSNV | - | 3/34 |
6-47626833-C-A | ADGRF2 | c.-207+2438C>A | - | intron_variant | - | 1/10 |
7-2004421-C-T | MAD1L1 | c.1506-7067G>A | - | IntronicSNV | - | 15/18 |
16-3536061-C-T | NAA60 | c.*1206C>T | - | 3-UTRSNV | 7/7 | - |
11-61571348-C-G | FADS1 | c.1054-109G>C | - | IntronicSNV | - | 7/11 |
4-7219933-T-A | SORCS2 | c.480+25080T>A | - | IntronicSNV | - | 1/26 |
11-74555056-C-T | XRRA1 | c.2020-52G>A | - | IntronicSNV | - | 17/18 |
4-7219933-T-G | SORCS2 | c.480+25080T>G | - | IntronicSNV | - | 1/26 |
9-123404610-T-C | MEGF9 | c.803+17042A>G | - | IntronicSNV | - | 2/5 |
1-111728610-T-C | DENND2D | c.*1617A>G | - | 3-UTRSNV | 12/12 | - |
6-133138010-T-C | RPS12 | c.235-89T>C | - | IntronicSNV | - | 4/5 |
1-154437896-T-A | IL6R | c.*40T>A | - | 3-UTRSNV | 10/10 | - |
3-186449916-T-G | KNG1 | c.758-375T>G | - | IntronicSNV | - | 6/9 |
16-4855279-A-G | GLYR1 | c.1620T>C | p.Ser540Ser | Synonymous | 16/16 | - |
8-145578296-A-G | TMEM249 | c.132T>C | p.Phe44Phe | Synonymous | 1/5 | - |
8-145578296-A-C | TMEM249 | c.132T>G | p.Phe44Leu | Missense | 1/5 | - |
8-145578296-A-T | TMEM249 | c.132T>A | p.Phe44Leu | Missense | 1/5 | - |
19-17375213-C-T | USHBP1 | c.1-105G>A | - | IntronicSNV | - | 1/12 |
11-55579801-T-C | OR5L1 | c.859T>C | p.Ser287Pro | Missense | 1/1 | - |
19-44532767-G-T | ZNF222 | c.262+1125G>T | - | IntronicSNV | - | 3/3 |
4-120155135-T-C | USP53 | c.1-5780T>C | - | IntronicSNV | - | 3/17 |
19-10676681-T-G | KRI1 | c.-6A>C | - | 5_prime_UTR_variant | 1/19 | - |
19-10676681-T-C | KRI1 | c.-6A>G | - | 5_prime_UTR_variant | 1/19 | - |
1-246931242-C-T | SCCPDH | c.*640C>T | - | 3-UTRSNV | 12/12 | - |
16-89553707-A-C | ANKRD11 | c.-145+2946T>G | - | intron_variant | - | 1/12 |
3-46299765-A-C | CCR3 | c.1-6130A>C | - | IntronicSNV | - | 1/2 |
4-91516040-A-C | CCSER1 | c.1725-33136A>C | - | IntronicSNV | - | 5/10 |
6-31085770-G-A | CDSN | c.86-464C>T | - | IntronicSNV | - | 1/1 |
3-52860936-C-T | ITIH4 | c.390G>A | p.Val130Val | Synonymous | 4/24 | - |
6-30679628-T-A | MDC1 | c.2068+23A>T | - | IntronicSNV | - | 5/14 |
4-49053522-G-T | CWH43 | c.2021+656G>T | - | IntronicSNV | - | 15/15 |
19-44532767-G-C | ZNF222 | c.262+1125G>C | - | IntronicSNV | - | 3/3 |
4-10087995-C-A | WDR1 | c.531+1336G>T | - | IntronicSNV | - | 5/11 |
10-88618968-T-C | BMPR1A | c.1-16808T>C | - | IntronicSNV | - | 2/12 |
11-126082218-C-T | FAM118B | c.-77+493C>T | - | intron_variant | - | 1/8 |
17-44108100-C-T | KANSL1 | c.*742G>A | - | 3-UTRSNV | 15/15 | - |
17-44108100-C-G | KANSL1 | c.*742G>C | - | 3-UTRSNV | 15/15 | - |
11-55322444-T-C | OR4C15 | c.662T>C | p.Phe221Ser | Missense | 1/1 | - |
2-179366093-C-T | PLEKHA3 | c.775+190C>T | - | IntronicSNV | - | 7/7 |
3-49762662-G-T | IP6K1 | c.*1893C>A | - | 3-UTRSNV | 6/6 | - |
12-109518133-A-G | USP30 | c.721-1006A>G | - | IntronicSNV | - | 7/12 |
17-40817448-G-T | TUBG2 | c.607-46G>T | - | IntronicSNV | - | 6/10 |
4-9944650-T-G | SLC2A9 | c.595-981A>C | - | IntronicSNV | - | 6/12 |
17-40817448-G-A | TUBG2 | c.607-46G>A | - | IntronicSNV | - | 6/10 |
17-40817448-G-C | TUBG2 | c.607-46G>C | - | IntronicSNV | - | 6/10 |
1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
2-79313815-G-T | REG1B | c.183+123C>A | - | IntronicSNV | - | 3/5 |
15-81533378-G-A | IL16 | c.312+15326G>A | - | IntronicSNV | - | 2/18 |
6-32410137-T-G | HLA-DRA | c.83-88T>G | - | IntronicSNV | - | 1/4 |
1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
3-10234065-G-A | IRAK2 | c.278-7988G>A | - | IntronicSNV | - | 2/12 |
2-219310483-A-C | VIL1 | c.2371-3463A>C | - | IntronicSNV | - | 19/19 |
11-61597212-C-T | FADS2 | c.207+1143C>T | - | IntronicSNV | - | 1/11 |
1-227834400-G-A | ZNF678 | c.250+29G>A | - | IntronicSNV | - | 3/3 |
16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
3-125786760-G-A | SLC41A3 | c.273+30C>T | - | IntronicSNV | - | 2/10 |
3-125786760-G-C | SLC41A3 | c.273+30C>G | - | IntronicSNV | - | 2/10 |
16-951045-C-T | LMF1 | c.664-7973G>A | - | IntronicSNV | - | 4/10 |
6-30618906-A-G | C6orf136 | c.161+47A>G | - | IntronicSNV | - | 2/4 |
7-1912222-A-G | MAD1L1 | c.1998+25614T>C | - | IntronicSNV | - | 18/18 |
3-194325010-G-A | TMEM44 | c.1176+6C>T | - | IntronicSNV | - | 9/10 |
3-194325010-G-T | TMEM44 | c.1176+6C>A | - | IntronicSNV | - | 9/10 |
10-81180962-C-T | ZCCHC24 | c.447+11352G>A | - | IntronicSNV | - | 2/3 |
6-110792301-G-A | SLC22A16 | c.53+5424C>T | - | IntronicSNV | - | 1/7 |
17-648157-G-A | GEMIN4 | c.3126C>T | p.Ile1042Ile | Synonymous | 2/2 | - |
17-648157-G-C | GEMIN4 | c.3126C>G | p.Ile1042Met | Missense | 2/2 | - |
8-11643803-C-T | NEIL2 | c.*21C>T | - | 3-UTRSNV | 5/5 | - |
1-230818841-G-T | COG2 | c.1167-479G>T | - | IntronicSNV | - | 10/17 |
12-88894940-T-C | KITLG | c.*4033A>G | - | IntronicSNV | 9/9 | - |
11-47432303-G-A | SLC39A13 | c.301+357G>A | - | IntronicSNV | - | 2/9 |
6-32411726-G-A | HLA-DRA | c.*39G>A | - | IntronicSNV | - | 4/4 |
21-44279410-G-A | WDR4 | c.627+362C>T | - | IntronicSNV | - | 6/10 |
X-106475646-C-A | PIH1D3 | c.430-6506C>A | - | IntronicSNV | - | 5/6 |
7-27168590-A-G | HOXA4 | c.*254T>C | - | 3-UTRSNV | 2/2 | - |
7-2004421-C-G | MAD1L1 | c.1506-7067G>C | - | IntronicSNV | - | 15/18 |
19-38014011-C-A | ZNF793 | c.1-331C>A | - | IntronicSNV | - | 1/7 |
6-31475127-A-T | MICB | c.892+50A>T | - | IntronicSNV | - | 4/5 |
19-49991789-C-T | RPL13A | c.-93+888C>T | - | intron_variant | - | 1/6 |
12-88955469-G-A | KITLG | c.16-15827C>T | - | IntronicSNV | - | 1/8 |
17-30290955-C-T | SUZ12 | c.456-2211C>T | - | IntronicSNV | - | 4/15 |
6-32411846-C-T | HLA-DRA | c.*159C>T | - | IntronicSNV | - | 4/4 |
6-32411846-C-G | HLA-DRA | c.*159C>G | - | IntronicSNV | - | 4/4 |
6-32411846-C-A | HLA-DRA | c.*159C>A | - | IntronicSNV | - | 4/4 |
6-32151994-A-T | AGER | c.6T>A | p.Ala2Ala | Synonymous | 1/11 | - |
16-9940293-C-T | GRIN2A | c.1328+3320G>A | - | IntronicSNV | - | 6/13 |
19-1833338-G-T | REXO1 | c.158-4708C>A | - | IntronicSNV | - | 1/15 |
16-87999571-A-C | BANP | c.1-9151A>C | - | IntronicSNV | - | 1/11 |
15-78832792-G-T | PSMA4 | c.-113G>T | - | 5_prime_UTR_variant | 1/9 | - |
12-110379213-T-C | GIT2 | c.1732-2161A>G | - | IntronicSNV | - | 16/19 |
12-88955469-G-C | KITLG | c.16-15827C>G | - | IntronicSNV | - | 1/8 |
6-21130870-A-T | CDKAL1 | c.1299+22176A>T | - | IntronicSNV | - | 13/15 |
16-4562351-T-C | CDIP1 | c.*222A>G | - | 3-UTRSNV | 6/6 | - |
6-33053468-G-T | HLA-DPB1 | c.647-88G>T | - | IntronicSNV | - | 3/5 |
12-53727955-G-A | SP7 | c.21+1455C>T | - | IntronicSNV | - | 2/2 |
12-88931532-T-C | KITLG | c.130-5252A>G | - | IntronicSNV | - | 2/8 |
3-195489009-C-A | MUC4 | c.14461G>T | p.Ala4821Ser | Missense | 14/25 | - |
12-124428331-T-C | CCDC92 | c.35-291A>G | - | IntronicSNV | - | 2/4 |
3-98002587-A-G | OR5H2 | c.856A>G | p.Ile286Val | Missense | 1/1 | - |
17-41371844-A-G | TMEM106A | c.*2023A>G | - | 3_prime_UTR_variant | 9/9 | - |
1-227935444-A-G | SNAP47 | c.142A>G | p.Arg48Gly | Missense | 2/5 | - |
1-150847647-C-T | ARNT | c.25+1372G>A | - | IntronicSNV | - | 1/20 |
3-1139641-A-G | CNTN6 | c.-83+4828A>G | - | intron_variant | - | 1/22 |
9-117120680-C-A | AKNA | c.2493-233G>T | - | IntronicSNV | - | 11/21 |
6-32147696-G-C | RNF5 | c.315G>C | p.Pro105Pro | Synonymous | 4/6 | - |
6-33056139-G-T | HLA-DPB1 | c.*2124G>T | - | 3-UTRSNV | 6/6 | - |
5-170328399-A-G | RANBP17 | c.489+5280A>G | - | IntronicSNV | - | 5/27 |
12-53727955-G-C | SP7 | c.21+1455C>G | - | IntronicSNV | - | 2/2 |
11-74551025-C-A | RNF169 | c.*3250C>A | - | 3-UTRSNV | 6/6 | - |
6-31837277-C-A | SLC44A4 | c.1004+45G>T | - | IntronicSNV | - | 11/19 |
3-195489009-C-T | MUC4 | c.14461G>A | p.Ala4821Thr | Missense | 14/25 | - |
2-166949372-A-G | SCN1A | c.-141-15061T>C | - | intron_variant | - | 2/28 |
16-89182218-A-T | ACSF3 | c.1126+1323A>T | - | IntronicSNV | - | 6/10 |
16-89182218-A-G | ACSF3 | c.1126+1323A>G | - | IntronicSNV | - | 6/10 |
6-29523957-A-G | UBD | c.198T>C | p.Tyr66Tyr | Synonymous | 2/2 | - |
11-74664025-G-A | SPCS2 | c.114+3581G>A | - | IntronicSNV | - | 1/4 |
6-32554469-G-T | HLA-DRB1 | c.101-2314C>A | - | IntronicSNV | - | 1/5 |
8-145615776-G-T | ADCK5 | c.267-95G>T | - | IntronicSNV | - | 3/14 |
10-3148116-C-G | PFKP | c.774+423C>G | - | IntronicSNV | - | 7/21 |
2-234667582-A-G | UGT1A4 | c.868-8098A>G | - | IntronicSNV | - | 1/4 |
17-30534311-A-G | RHOT1 | c.1536+263A>G | - | IntronicSNV | - | 17/18 |
11-77773926-C-T | NDUFC2-KCTD14 | c.310+10118G>A | - | IntronicSNV | - | 2/3 |
6-30031345-T-C | ZNRD1 | c.357-1105T>C | - | IntronicSNV | - | 4/4 |
8-144403163-G-A | TOP1MT | c.1146+208C>T | - | IntronicSNV | - | 8/13 |
8-145615776-G-A | ADCK5 | c.267-95G>A | - | IntronicSNV | - | 3/14 |
2-234667582-A-T | UGT1A4 | c.868-8098A>T | - | IntronicSNV | - | 1/4 |
2-234667582-A-C | UGT1A4 | c.868-8098A>C | - | IntronicSNV | - | 1/4 |
9-123665019-A-G | TRAF1 | c.*2279T>C | - | 3-UTRSNV | 8/8 | - |
19-1495634-G-C | REEP6 | c.348+28G>C | - | IntronicSNV | - | 3/4 |
1-150783985-T-C | ARNT | c.*512A>G | - | 3-UTRSNV | 21/21 | - |
11-55322099-C-G | OR4C15 | c.155C>G | - | missense_variant | 1/1 | - |
11-55322099-C-T | OR4C15 | c.155C>T | - | missense_variant | 1/1 | - |
2-120123704-C-T | C2orf76 | c.-216+229G>A | - | intron_variant | - | 1/6 |
7-1947895-C-T | MAD1L1 | c.1808-9869G>A | - | IntronicSNV | - | 17/18 |
2-171893117-T-C | TLK1 | c.1170-8202A>G | - | IntronicSNV | - | 11/20 |
2-171893117-T-A | TLK1 | c.1170-8202A>T | - | IntronicSNV | - | 11/20 |
1-111731158-A-G | DENND2D | c.1099+166T>C | - | IntronicSNV | - | 10/11 |
6-30169092-A-G | TRIM26 | c.-265-177T>C | - | intron_variant | - | 2/9 |
13-52507720-C-T | ATP7B | c.*1172G>A | - | 3-UTRSNV | 21/21 | - |
7-1984122-A-G | MAD1L1 | c.1597-7589T>C | - | IntronicSNV | - | 16/18 |
11-44880092-C-T | TSPAN18 | c.-152-1787C>T | - | intron_variant | - | 2/9 |
4-57905807-C-T | IGFBP7 | c.585+1183G>A | - | IntronicSNV | - | 2/3 |
4-57905807-C-A | IGFBP7 | c.585+1183G>T | - | IntronicSNV | - | 2/3 |
12-57725197-G-A | R3HDM2 | c.1-20986C>T | - | IntergenicSNV | - | 2/23 |
17-44071851-G-A | MAPT | c.1508-1914G>A | - | IntronicSNV | - | 9/13 |
16-68713730-G-A | CDH3 | c.720G>A | p.Thr240Thr | Synonymous | 7/16 | - |
14-24898751-G-A | CBLN3 | c.1-491C>T | - | IntergenicSNV | 1/3 | - |
11-61551356-T-G | MYRF | c.3033T>G | p.Ser1011Arg | Missense | 23/26 | - |
15-41088581-A-G | DNAJC17 | c.78+10986T>C | - | IntronicSNV | - | 1/10 |
15-41088581-A-T | DNAJC17 | c.78+10986T>A | - | IntronicSNV | - | 1/10 |
13-111318160-C-T | CARS2 | c.919+1527G>A | - | IntronicSNV | - | 8/14 |
4-49016761-A-G | CWH43 | c.1187-2505A>G | - | IntronicSNV | - | 8/15 |
13-111301996-C-A | CARS2 | c.1054+1385G>T | - | IntronicSNV | - | 10/14 |
6-31927342-A-T | SKIV2L | c.126+165A>T | - | IntronicSNV | - | 2/27 |
4-109931951-C-T | COL25A1 | c.421-420G>A | - | IntronicSNV | - | 5/34 |
9-94864322-A-G | SPTLC1 | c.260+6700T>C | - | IntronicSNV | - | 3/14 |
10-104596924-C-A | CYP17A1 | c.195G>T | p.Ser65Ser | Synonymous | 1/8 | - |
6-30882415-C-T | VARS2 | c.1-199C>T | - | IntronicSNV | - | 1/29 |
10-104698978-T-C | CNNM2 | c.1621+19120T>C | - | IntronicSNV | - | 1/7 |
2-55406602-A-C | CLHC1 | c.1384+1044T>G | - | IntronicSNV | - | 11/12 |
16-58194926-C-T | CSNK2A2 | c.*18-2669G>A | - | intron_variant | - | 11/11 |
3-1139641-A-T | CNTN6 | c.-83+4828A>T | - | intron_variant | - | 1/22 |
6-31921475-G-A | NELFE | c.1045+31C>T | - | IntronicSNV | - | 10/10 |
2-70446785-A-C | TIA1 | c.442-2659T>G | - | IntronicSNV | - | 6/11 |
13-111328765-C-T | CARS2 | c.785+556G>A | - | IntronicSNV | - | 7/14 |
18-77455690-C-T | CTDP1 | c.399-287C>T | - | IntronicSNV | - | 2/12 |
10-104638723-T-C | AS3MT | c.860T>C | p.Met287Thr | Missense | 9/11 | - |
3-41930219-A-C | ULK4 | c.1578-4775T>G | - | IntronicSNV | - | 16/36 |
5-170408962-A-G | RANBP17 | c.1710+13581A>G | - | IntronicSNV | - | 14/27 |
4-100060538-A-G | ADH4 | c.263-239T>C | - | IntronicSNV | - | 3/8 |
11-117745003-G-A | FXYD6-FXYD2 | c.-6+2304C>T | - | intron_variant | - | 1/10 |
6-30867527-G-A | DDR1 | c.*454G>A | - | 3-UTRSNV | 17/17 | - |
11-72432985-G-A | ARAP1 | c.509+4680C>T | - | IntronicSNV | - | 3/34 |
6-31864547-G-T | EHMT2 | c.164C>A | p.Thr55Asn | Missense | 3/28 | - |
3-41851718-T-C | ULK4 | c.1848+9197A>G | - | IntronicSNV | - | 19/36 |
19-9868404-C-T | ZNF846 | c.1349G>A | p.Cys450Tyr | Missense | 6/6 | - |
10-124186127-A-G | PLEKHA1 | c.811-331A>G | - | IntronicSNV | - | 10/11 |
9-140706127-G-A | EHMT1 | c.2867+60G>A | - | IntronicSNV | - | 19/26 |
13-53278680-T-C | CNMD | c.790-738A>G | - | IntronicSNV | - | 6/6 |
1-235600129-T-C | TBCE | c.963+206T>C | - | IntronicSNV | - | 11/16 |
18-45659367-A-G | ZBTB7C | c.-17+4011T>C | - | intron_variant | - | 1/2 |
18-45659367-A-C | ZBTB7C | c.-17+4011T>G | - | intron_variant | - | 1/2 |
1-231520874-C-G | EGLN1 | c.892-11029G>C | - | IntronicSNV | - | 1/4 |
1-231520874-C-T | EGLN1 | c.892-11029G>A | - | IntronicSNV | - | 1/4 |
6-31688518-T-A | LY6G6C | c.53-538A>T | - | IntronicSNV | - | 1/2 |
14-75389074-G-A | RPS6KL1 | c.-414C>T | - | 5_prime_UTR_variant | 2/12 | - |
6-32154285-A-G | PBX2 | c.1201-34T>C | - | IntronicSNV | - | 8/8 |
17-56660279-A-G | TEX14 | c.3190-1188T>C | - | IntronicSNV | - | 19/32 |
17-56660279-A-T | TEX14 | c.3190-1188T>A | - | IntronicSNV | - | 19/32 |
2-234635467-A-G | UGT1A4 | c.867+7134A>G | - | IntronicSNV | - | 1/4 |
9-140698856-C-T | EHMT1 | c.2712+3420C>T | - | IntronicSNV | - | 18/26 |
6-32038550-C-T | TNXB | c.4991-359G>A | - | IntronicSNV | - | 13/43 |
15-40949526-C-T | KNL1 | c.6595-27C>T | - | IntronicSNV | - | 23/25 |
5-662955-T-C | TPPP | c.*2262A>G | - | 3-UTRSNV | 4/4 | - |
19-36902219-C-A | ZFP82 | c.1-1528G>T | - | IntronicSNV | - | 1/4 |
12-11338750-T-G | TAS2R42 | c.794A>C | p.Tyr265Ser | Missense | 1/1 | - |
12-11338750-T-C | TAS2R42 | c.794A>G | p.Tyr265Cys | Missense | 1/1 | - |
18-77509825-G-A | CTDP1 | c.2748-3827G>A | - | IntronicSNV | - | 12/12 |
1-42620154-A-G | GUCA2B | c.91-197A>G | - | IntronicSNV | - | 1/2 |
17-7473457-C-T | SENP3 | c.1342-217C>T | - | intron_variant | - | 8/11 |
6-31525448-C-T | NFKBIL1 | c.378C>T | p.Ser126Ser | Synonymous | 3/4 | - |
17-7473457-C-A | SENP3 | c.1342-217C>A | - | intron_variant | - | 8/11 |
8-22133744-C-A | PIWIL2 | c.-47+202C>A | - | intron_variant | - | 1/22 |
3-48898749-T-C | SLC25A20 | c.535+1226A>G | - | IntronicSNV | - | 5/8 |
1-231488524-C-T | SPRTN | c.887C>T | p.Pro296Leu | Missense | 5/5 | - |
2-219501328-G-A | PLCD4 | c.*28G>A | - | 3-UTRSNV | 16/16 | - |
2-86310110-C-T | POLR1A | c.817+95G>A | - | IntronicSNV | - | 7/33 |
7-30696190-C-T | CRHR2 | c.913-562G>A | - | IntronicSNV | - | 9/12 |
1-227821255-T-C | ZNF678 | c.124-12990T>C | - | IntronicSNV | - | 2/3 |
10-104597152-A-T | CYP17A1 | c.1-34T>A | - | 5-UTRSNV | 1/8 | - |
10-104597152-A-G | CYP17A1 | c.1-34T>C | - | 5-UTRSNV | 1/8 | - |
17-78079643-C-A | GAA | c.642C>A | p.Ser214Ser | Synonymous | 3/20 | - |
22-50584201-A-C | MOV10L1 | c.2589A>C | p.Thr863Thr | Synonymous | 19/27 | - |
2-106692818-G-A | C2orf40 | c.286-1403G>A | - | IntronicSNV | - | 3/3 |
17-43513441-C-T | PLEKHM1 | c.*1783G>A | - | 3-UTRSNV | 12/12 | - |
4-100056060-G-A | ADH4 | c.582+1557C>T | - | IntronicSNV | - | 5/8 |
9-136538366-G-A | SARDH | c.2164-1547C>T | - | IntronicSNV | - | 17/20 |
6-31946614-G-A | STK19 | c.568-66G>A | - | IntronicSNV | - | 3/7 |
11-60785352-A-G | CD6 | c.1704A>G | p.Ser568Ser | Synonymous | 11/13 | - |
6-30038647-T-G | RNF39 | c.*241A>C | - | 3-UTRSNV | 5/5 | - |
6-30038647-T-C | RNF39 | c.*241A>G | - | 3-UTRSNV | 5/5 | - |
1-78558419-T-C | GIPC2 | c.427-2217T>C | - | IntronicSNV | - | 2/5 |
6-33050279-A-G | HLA-DPB1 | c.364+1567A>G | - | IntronicSNV | - | 2/5 |
11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
16-67874264-T-C | CENPT | c.-491-4703A>G | - | intron_variant | - | 1/15 |
6-32408044-A-C | HLA-DRA | c.82+235A>C | - | IntronicSNV | - | 1/4 |
11-62371773-A-C | EML3 | c.1983-100T>G | - | IntronicSNV | - | 16/21 |
6-32781776-C-A | HLA-DOB | c.644-166G>T | - | IntronicSNV | - | 3/5 |
16-68024995-G-A | DPEP2 | c.732+23C>T | - | IntronicSNV | - | 6/10 |
17-6481776-C-T | KIAA0753 | c.*1291G>A | - | 3-UTRSNV | 19/19 | - |
17-56663842-A-G | TEX14 | c.2807-399T>C | - | IntronicSNV | - | 17/32 |
14-93170993-C-T | LGMN | c.1251G>A | p.Pro417Pro | Synonymous | 13/14 | - |
10-135217175-C-T | MTG1 | c.752+898C>T | - | IntronicSNV | - | 9/10 |
16-67708897-A-G | GFOD2 | c.*161T>C | - | 3-UTRSNV | 3/3 | - |
9-5181467-C-T | INSL6 | c.289+3847G>A | - | IntronicSNV | - | 1/1 |
9-5181467-C-A | INSL6 | c.289+3847G>T | - | IntronicSNV | - | 1/1 |
8-116662038-A-C | TRPS1 | c.-122+18734T>G | - | intron_variant | - | 1/6 |
8-116662038-A-T | TRPS1 | c.-122+18734T>A | - | intron_variant | - | 1/6 |
X-117926781-T-G | IL13RA1 | c.*964T>G | - | 3-UTRSNV | 11/11 | - |
12-88918627-C-T | KITLG | c.193-5983G>A | - | IntronicSNV | - | 3/8 |
8-59412066-T-G | CYP7A1 | c.80+512A>C | - | IntronicSNV | - | 1/5 |
16-57004889-G-A | CETP | c.528-56G>A | - | IntronicSNV | - | 5/15 |
1-26612460-G-A | UBXN11 | c.529C>T | p.Leu177Leu | Synonymous | 9/15 | - |
13-53203671-G-A | HNRNPA1L2 | c.-303+177G>A | - | intron_variant | - | 4/6 |
4-1365858-T-C | UVSSA | c.1289-3294T>C | - | IntronicSNV | - | 8/13 |
9-136536679-G-T | SARDH | c.2304C>A | p.Ile768Ile | Synonymous | 18/21 | - |
2-179366093-C-A | PLEKHA3 | c.775+190C>A | - | IntronicSNV | - | 7/7 |
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 | - |
6-31083664-G-A | CDSN | c.*138C>T | - | 3-UTRSNV | 2/2 | - |
2-85546615-C-T | TGOLN2 | c.*3244G>A | - | 3-UTRSNV | 4/4 | - |
6-30544401-A-G | ABCF1 | c.74-785A>G | - | IntronicSNV | - | 1/24 |
2-3658521-C-T | COLEC11 | c.131-2380C>T | - | IntronicSNV | - | 2/6 |
7-141463914-T-A | TAS2R3 | c.1-45T>A | - | 5-UTRSNV | 1/1 | - |
6-32410987-A-G | HLA-DRA | c.354A>G | p.Thr118Thr | Synonymous | 3/5 | - |
10-35662640-A-T | CCNY | c.1-109700A>T | - | IntronicSNV | - | 3/11 |
10-35662640-A-G | CCNY | c.1-109700A>G | - | IntronicSNV | - | 3/11 |
17-78615571-G-A | RPTOR | c.266-1957G>A | - | IntronicSNV | - | 2/33 |
17-43923654-G-C | SPPL2C | c.1382G>C | p.Arg461Pro | Missense | 1/1 | - |
17-43923654-G-A | SPPL2C | c.1382G>A | p.Arg461His | Missense | 1/1 | - |
11-6790106-T-C | OR2AG2 | c.83A>G | p.Tyr28Cys | Missense | 1/1 | - |
16-88024007-T-C | BANP | c.362+6142T>C | - | IntronicSNV | - | 4/11 |
6-31097453-T-A | PSORS1C1 | c.13+31T>A | - | IntronicSNV | - | 3/5 |
16-56400976-C-T | AMFR | c.1599+380G>A | - | IntronicSNV | - | 12/13 |
1-78130243-T-C | ZZZ3 | c.-403+18027A>G | - | intron_variant | - | 1/14 |
9-33131651-G-A | B4GALT1 | c.648+3536C>T | - | IntronicSNV | - | 2/5 |
9-136536679-G-A | SARDH | c.2304C>T | p.Ile768Ile | Synonymous | 18/21 | - |
17-40716520-A-G | COASY | c.972A>G | p.Thr324Thr | Synonymous | 3/9 | - |
2-198950029-A-G | PLCL1 | c.1788A>G | p.Gln596Gln | Synonymous | 2/6 | - |
1-150671630-T-C | HORMAD1 | c.1105-420A>G | - | IntronicSNV | - | 14/14 |
1-205812614-C-T | PM20D1 | c.827+181G>A | - | IntronicSNV | - | 6/12 |
6-31379115-G-A | MICA | c.592G>A | p.Gly198Ser | Missense | 3/6 | - |
11-118528466-T-G | TREH | c.*533A>C | - | 3_prime_UTR_variant | 16/16 | - |
11-117741995-G-A | FXYD6-FXYD2 | c.-6+5312C>T | - | intron_variant | - | 1/10 |
17-44800110-G-A | NSF | c.1762-3805G>A | - | IntronicSNV | - | 15/20 |
7-141464765-C-T | TAS2R3 | c.807C>T | p.Gly269Gly | Synonymous | 1/1 | - |
7-99800559-G-T | STAG3 | c.2700+346G>T | - | IntronicSNV | - | 25/33 |
10-34470204-C-T | PARD3 | c.3429-49693G>A | - | IntronicSNV | - | 22/24 |
13-36850012-G-A | CCDC169 | c.315+7594C>T | - | IntronicSNV | - | 4/7 |
6-30515043-T-C | GNL1 | c.1287A>G | p.Ala429Ala | Synonymous | 10/12 | - |
7-2752487-G-A | AMZ1 | c.1472G>A | p.Arg491His | Missense | 7/7 | - |
11-108539604-G-A | DDX10 | c.186+3538G>A | - | IntronicSNV | - | 1/17 |
2-88475047-G-A | THNSL2 | c.571+127G>A | - | IntronicSNV | - | 3/7 |
9-33124872-T-C | B4GALT1 | c.649-4268A>G | - | IntronicSNV | - | 2/5 |
17-7134129-A-G | DVL2 | c.195-13T>C | - | IntronicSNV | - | 1/14 |
19-1495634-G-A | REEP6 | c.348+28G>A | - | IntronicSNV | - | 3/4 |
1-154491683-A-G | TDRD10 | c.142-1097A>G | - | IntronicSNV | - | 4/12 |
22-32196181-G-T | DEPDC5 | c.946+1539G>T | - | IntronicSNV | - | 14/41 |
7-75628101-C-T | STYXL1 | c.810+2107G>A | - | IntronicSNV | - | 8/8 |
12-110430968-A-T | GIT2 | c.53-1403T>A | - | IntronicSNV | - | 1/19 |
6-30611350-C-A | ATAT1 | c.*11C>A | - | 3-UTRSNV | 11/11 | - |
6-31084075-G-T | CDSN | c.1317C>A | p.Ser439Ser | Synonymous | 2/2 | - |
6-31084075-G-C | CDSN | c.1317C>G | p.Ser439Ser | Synonymous | 2/2 | - |
2-219543433-T-C | STK36 | c.685-458T>C | - | IntronicSNV | - | 6/26 |
10-35577194-C-T | CCNY | c.-9+37640C>T | - | intron_variant | - | 3/11 |
17-10617234-G-C | TMEM220 | c.*1536C>G | - | 3-UTRSNV | 6/6 | - |
8-48803675-T-C | PRKDC | c.3845-634A>G | - | intron_variant | - | 32/85 |
9-5181610-T-A | INSL6 | c.289+3704A>T | - | IntronicSNV | - | 1/1 |
8-38855847-T-C | ADAM9 | c.97+1168T>C | - | IntronicSNV | - | 1/21 |
16-17479794-A-G | XYLT1 | c.364-27887T>C | - | IntronicSNV | - | 1/11 |
11-18421683-C-A | LDHA | c.244+588C>A | - | IntronicSNV | - | 3/7 |
10-104574422-A-T | WBP1L | c.*1334A>T | - | 3-UTRSNV | 4/4 | - |
6-33172932-G-C | HSD17B8 | c.270+36G>C | - | IntronicSNV | - | 2/8 |
8-11617240-A-T | GATA4 | c.*1256A>T | - | 3-UTRSNV | 7/7 | - |
17-7129974-A-G | DVL2 | c.1544-16T>C | - | IntronicSNV | - | 13/14 |
4-2943361-T-G | NOP14 | c.2147A>C | p.Gln716Pro | Missense | 15/19 | - |
X-153701716-A-C | PLXNA3 | c.*688A>C | - | 3-UTRSNV | 33/33 | - |
18-74692336-A-T | MBP | c.*47T>A | - | 3-UTRSNV | 7/7 | - |
4-141410251-C-T | MGAT4D | c.95-6612G>A | - | IntronicSNV | - | 1/10 |
6-33053682-G-A | HLA-DPB1 | c.757+16G>A | - | IntronicSNV | - | 4/5 |
6-33053682-G-C | HLA-DPB1 | c.757+16G>C | - | IntronicSNV | - | 4/5 |
6-33622933-C-T | ITPR3 | c.161-610C>T | - | IntronicSNV | - | 2/57 |
10-34461345-A-G | PARD3 | c.3429-40834T>C | - | IntronicSNV | - | 22/24 |
9-136143442-A-G | ABO | c.29-5871T>C | - | IntronicSNV | - | 1/7 |
2-219295249-C-T | VIL1 | c.949-199C>T | - | IntronicSNV | - | 9/19 |
16-2742020-A-G | KCTD5 | c.253-3916A>G | - | IntronicSNV | - | 1/5 |
4-100055908-T-C | ADH4 | c.582+1709A>G | - | IntronicSNV | - | 5/8 |
11-126162843-C-T | TIRAP | c.539C>T | p.Ser180Leu | Missense | 5/5 | - |
19-41932084-G-T | B3GNT8 | c.600C>A | p.Ala200Ala | Synonymous | 3/3 | - |
5-170394572-G-A | RANBP17 | c.1575-674G>A | - | IntronicSNV | - | 13/27 |
8-145621556-A-C | CPSF1 | c.2979+7T>G | - | IntronicSNV | - | 26/37 |
8-145621556-A-G | CPSF1 | c.2979+7T>C | - | IntronicSNV | - | 26/37 |
10-12652657-G-A | CAMK1D | c.225-56078G>A | - | IntronicSNV | - | 2/9 |
1-198269416-C-T | NEK7 | c.798+3046C>T | - | IntronicSNV | - | 9/9 |
18-33048554-C-T | INO80C | c.*21G>A | - | 3-UTRSNV | 5/5 | - |
1-67494591-G-C | SLC35D1 | c.730-7306C>G | - | IntronicSNV | - | 8/11 |
1-67494591-G-T | SLC35D1 | c.730-7306C>A | - | IntronicSNV | - | 8/11 |
8-145046662-C-G | PLEC | c.193+2683G>C | - | IntronicSNV | - | 2/32 |
3-194324939-A-G | TMEM44 | c.1176+77T>C | - | IntronicSNV | - | 9/10 |
13-36857639-T-C | CCDC169 | c.282A>G | p.Leu94Leu | Synonymous | 4/8 | - |
13-36857639-T-G | CCDC169 | c.282A>C | p.Leu94Leu | Synonymous | 4/8 | - |
18-33048554-C-G | INO80C | c.*21G>C | - | 3-UTRSNV | 5/5 | - |
17-2295633-C-A | MNT | c.807+1704G>T | - | IntronicSNV | - | 4/5 |
11-55322099-C-A | OR4C15 | c.155C>A | - | missense_variant | 1/1 | - |
4-100059312-G-A | ADH4 | c.350+900C>T | - | IntronicSNV | - | 4/8 |
1-182759592-G-T | NPL | c.-72+652G>T | - | intron_variant | - | 1/12 |
17-56473259-T-C | RNF43 | c.252+19428A>G | - | IntronicSNV | - | 2/9 |
8-145046662-C-T | PLEC | c.193+2683G>A | - | IntronicSNV | - | 2/32 |
11-47648042-G-A | MTCH2 | c.681+590C>T | - | IntronicSNV | - | 10/12 |
6-28257377-T-C | PGBD1 | c.642+2432T>C | - | IntronicSNV | - | 4/6 |
6-32168771-G-T | NOTCH4 | c.4152C>A | p.Val1384Val | Synonymous | 23/30 | - |
1-150664077-C-T | GOLPH3L | c.183+3055G>A | - | IntronicSNV | - | 2/4 |
9-139847570-T-C | LCN12 | c.251+90T>C | - | IntronicSNV | - | 2/5 |
9-130703565-A-G | FAM102A | c.*1906T>C | - | 3-UTRSNV | 11/11 | - |
9-130703565-A-T | FAM102A | c.*1906T>A | - | 3-UTRSNV | 11/11 | - |
19-1497121-G-T | REEP6 | c.518-52G>T | - | IntronicSNV | - | 4/4 |
11-126182644-C-G | DCPS | c.376+6005C>G | - | IntronicSNV | - | 2/5 |
14-90754538-C-T | NRDE2 | c.3158+23G>A | - | IntronicSNV | - | 11/13 |
17-41234470-A-G | BRCA1 | c.4308T>C | p.Ser1436Ser | Synonymous | 12/23 | - |
6-29646165-C-T | ZFP57 | c.1-1385G>A | - | IntergenicSNV | - | 1/4 |
11-126182644-C-A | DCPS | c.376+6005C>A | - | IntronicSNV | - | 2/5 |
15-74275676-A-G | STOML1 | c.*602T>C | - | 3-UTRSNV | 7/7 | - |
6-30864279-C-T | DDR1 | c.1625-119C>T | - | IntronicSNV | - | 11/16 |
10-104848123-G-C | NT5C2 | c.*1306C>G | - | 3-UTRSNV | 19/19 | - |
9-34237480-G-A | UBAP1 | c.351+3142G>A | - | IntronicSNV | - | 2/5 |
1-109817838-T-C | CELSR2 | c.*1167T>C | - | 3-UTRSNV | 34/34 | - |
2-120122340-T-C | C2orf76 | c.-216+1593A>G | - | intron_variant | - | 1/6 |
6-32117971-T-G | PRRT1 | c.558+174A>C | - | IntronicSNV | - | 2/3 |
9-140682841-C-G | EHMT1 | c.2383-2459C>G | - | IntronicSNV | - | 15/26 |
17-4763551-T-C | MINK1 | c.58-18061T>C | - | IntronicSNV | - | 1/30 |
6-31609813-C-T | BAG6 | c.2227+76G>A | - | IntronicSNV | - | 15/24 |
12-75881018-C-T | GLIPR1 | c.421-3168C>T | - | IntronicSNV | - | 2/5 |
5-81550043-G-A | ATG10 | c.*161G>A | - | 3_prime_UTR_variant | 9/9 | - |
19-49342188-C-G | PLEKHA4 | c.1669-802G>C | - | IntronicSNV | - | 15/16 |
4-91500284-A-G | CCSER1 | c.1725-48892A>G | - | IntronicSNV | - | 5/10 |
16-12059233-TT-GA | TNFRSF17 | c.52_53delTTinsGA | p.Leu18Glu | Missense | 1/3 | - |
12-88921216-A-G | KITLG | c.192+5002T>C | - | IntronicSNV | - | 3/8 |
6-62547401-G-A | KHDRBS2 | c.810+57139C>T | - | IntronicSNV | - | 6/8 |
7-43665500-T-C | STK17A | c.*1059T>C | - | 3-UTRSNV | 7/7 | - |
12-129592534-G-A | TMEM132D | c.1444-23287C>T | - | IntronicSNV | - | 5/8 |
X-106440550-C-T | NUP62CL | c.-91-4248G>A | - | intron_variant | - | 1/8 |
4-120424580-T-G | PDE5A | c.2332-770A>C | - | IntronicSNV | - | 18/20 |
22-23587894-C-A | BCR | c.1280-8092C>A | - | IntronicSNV | - | 1/22 |
12-121128699-A-G | MLEC | c.236-3195A>G | - | IntronicSNV | - | 1/4 |
17-10610213-A-G | ADPRM | c.718+342A>G | - | IntronicSNV | - | 3/3 |
14-75386576-G-A | RPS6KL1 | c.362C>T | p.Pro121Leu | Missense | 4/12 | - |
17-40110764-C-T | TTC25 | c.1246-2636C>T | - | IntronicSNV | - | 9/10 |
6-32140487-T-C | AGPAT1 | c.1-1214A>G | - | IntronicSNV | - | 1/6 |
3-158429009-T-C | RARRES1 | c.340-287A>G | - | IntronicSNV | - | 2/3 |
1-26899125-C-A | RPS6KA1 | c.1947+341C>A | - | IntronicSNV | - | 20/21 |
3-158429009-T-G | RARRES1 | c.340-287A>C | - | IntronicSNV | - | 2/3 |
1-26899125-C-T | RPS6KA1 | c.1947+341C>T | - | IntronicSNV | - | 20/21 |
17-33874678-T-C | SLFN14 | c.*580A>G | - | IntergenicSNV | 6/6 | - |
8-80841972-T-C | MRPS28 | c.396-10589A>G | - | IntronicSNV | - | 2/2 |
10-34473335-T-G | PARD3 | c.3429-52824A>C | - | IntronicSNV | - | 22/24 |
17-4876446-C-T | CAMTA2 | c.2280+24G>A | - | IntronicSNV | - | 14/22 |
6-146257761-G-C | SHPRH | c.2570-1184C>G | - | IntronicSNV | - | 11/29 |
6-146257761-G-T | SHPRH | c.2570-1184C>A | - | IntronicSNV | - | 11/29 |
7-44102037-T-C | DBNL | c.*1522T>C | - | IntergenicSNV | 13/13 | - |
7-1529860-C-T | INTS1 | c.2166-542G>A | - | IntronicSNV | - | 16/47 |
4-10076860-G-A | WDR1 | c.*142C>T | - | 3-UTRSNV | 12/12 | - |
X-106322665-T-C | RBM41 | c.927+9001A>G | - | IntronicSNV | - | 5/6 |
3-134325626-A-G | KY | c.1090+1865T>C | - | IntronicSNV | - | 10/10 |
19-50396263-T-G | IL4I1 | c.633+1262A>C | - | IntronicSNV | - | 7/9 |
1-204913652-A-G | NFASC | c.91+118A>G | - | IntronicSNV | - | 3/29 |
19-50396263-T-A | IL4I1 | c.633+1262A>T | - | IntronicSNV | - | 7/9 |
7-2768864-T-A | GNA12 | c.*1951A>T | - | 3-UTRSNV | 4/4 | - |
4-38060485-T-A | TBC1D1 | c.2050+4526T>A | - | IntronicSNV | - | 12/19 |
4-38060485-T-C | TBC1D1 | c.2050+4526T>C | - | IntronicSNV | - | 12/19 |
X-106396455-A-T | NUP62CL | c.477T>A | p.Arg159Arg | Synonymous | 7/9 | - |
17-30206426-T-C | UTP6 | c.968-626A>G | - | IntronicSNV | - | 11/18 |
1-242038713-G-A | EXO1 | c.1514+3133G>A | - | IntronicSNV | - | 10/13 |
2-219293326-C-T | VIL1 | c.567+266C>T | - | IntronicSNV | - | 6/19 |
1-109940435-AG-GC | SORT1 | c.79_80delCTinsGC | p.Leu27Ala | Missense | 1/20 | - |
7-1125893-A-G | C7orf50 | c.129+41000T>C | - | IntronicSNV | - | 2/4 |
4-100046207-A-G | ADH4 | c.1119-590T>C | - | IntronicSNV | - | 8/8 |
17-6481933-G-C | KIAA0753 | c.*1134C>G | - | 3-UTRSNV | 19/19 | - |
2-120108230-A-C | C2orf76 | c.-215-10293T>G | - | intron_variant | - | 1/6 |
12-131277771-C-A | STX2 | c.*46-1249G>T | - | intron_variant | - | 10/10 |
12-131277771-C-G | STX2 | c.*46-1249G>C | - | intron_variant | - | 10/10 |
7-1097952-C-T | C7orf50 | c.130-48173G>A | - | IntronicSNV | - | 2/4 |
6-30174428-A-T | TRIM26 | c.-375-1886T>A | - | intron_variant | - | 1/9 |
17-30206426-T-A | UTP6 | c.968-626A>T | - | IntronicSNV | - | 11/18 |
10-88546128-A-G | BMPR1A | c.-268+29452A>G | - | intron_variant | - | 1/12 |
1-15529536-T-C | TMEM51 | c.1-12048T>C | - | IntronicSNV | - | 1/2 |
16-89544636-C-T | ANKRD11 | c.-145+12017G>A | - | intron_variant | - | 1/12 |
8-145034852-G-A | PLEC | c.193+14493C>T | - | IntronicSNV | - | 2/32 |
12-121127347-A-G | MLEC | c.235+2013A>G | - | IntronicSNV | - | 1/4 |
10-88662216-A-C | BMPR1A | c.530+2333A>C | - | IntronicSNV | - | 7/12 |
17-56584205-A-C | MTMR4 | c.890T>G | p.Val297Gly | Missense | 10/19 | - |
X-117916520-A-G | IL13RA1 | c.1191+6046A>G | - | IntronicSNV | - | 10/10 |
4-91501614-A-G | CCSER1 | c.1725-47562A>G | - | IntronicSNV | - | 5/10 |
10-94374377-C-G | KIF11 | c.1032+1001C>G | - | IntronicSNV | - | 8/21 |
10-94374377-C-T | KIF11 | c.1032+1001C>T | - | IntronicSNV | - | 8/21 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
16-68725486-A-G | CDH3 | c.1796-137A>G | - | IntronicSNV | - | 12/15 |
4-99948406-G-A | METAP1 | c.115-1612G>A | - | IntronicSNV | - | 1/10 |
17-6531648-A-C | KIAA0753 | c.507T>G | p.Ser169Ser | Synonymous | 3/19 | - |
17-6531648-A-G | KIAA0753 | c.507T>C | p.Ser169Ser | Synonymous | 3/19 | - |
11-19849427-G-A | NAV2 | c.268-4603G>A | - | IntronicSNV | - | 1/37 |
11-55703728-A-G | OR5I1 | c.149T>C | p.Leu50Ser | Missense | 1/1 | - |
11-723429-C-T | EPS8L2 | c.1454+76C>T | - | IntronicSNV | - | 15/20 |
2-136674028-A-G | DARS | c.960-86T>C | - | IntronicSNV | - | 10/15 |
6-29645634-C-T | ZFP57 | c.1-854G>A | - | IntergenicSNV | - | 1/4 |
6-33051139-G-A | HLA-DPB1 | c.365-1588G>A | - | IntronicSNV | - | 2/5 |
1-26759149-A-G | DHDDS | c.1-288A>G | - | IntronicSNV | - | 1/8 |
3-105526724-T-C | CBLB | c.420-31338A>G | - | IntronicSNV | - | 3/18 |
6-30137209-G-A | TRIM15 | c.731+169G>A | - | IntronicSNV | - | 4/6 |
10-124156852-C-T | PLEKHA1 | c.142-582C>T | - | IntronicSNV | - | 2/11 |
1-182369738-G-A | TEDDM1 | c.1-118C>T | - | 5-UTRSNV | 1/1 | - |
17-40763386-A-G | TUBG1 | c.331-707A>G | - | IntronicSNV | - | 3/10 |
7-64284959-G-A | ZNF138 | c.131-6870G>A | - | IntronicSNV | - | 2/2 |
1-167512558-T-G | CREG1 | c.660-1020A>C | - | IntronicSNV | - | 3/3 |
1-55464743-T-C | BSND | c.1-117T>C | - | 5-UTRSNV | 1/4 | - |
7-2159817-A-G | MAD1L1 | c.1073+28970T>C | - | IntronicSNV | - | 11/18 |
1-1385211-A-G | ATAD3C | c.1-853A>G | - | 5-UTRSNV | 1/12 | - |
16-28855727-A-G | TUFM | c.817+13T>C | - | IntronicSNV | - | 6/9 |
20-33604042-T-C | TRPC4AP | c.1219-100A>G | - | IntronicSNV | - | 9/18 |
22-32151704-T-C | DEPDC5 | c.58+739T>C | - | IntronicSNV | - | 2/41 |
18-31320716-A-G | ASXL3 | c.3039+309A>G | - | IntronicSNV | - | 11/11 |
2-232389301-T-C | NMUR1 | c.*453A>G | - | 3-UTRSNV | 3/3 | - |
5-498065-T-C | SLC9A3 | c.212-5879A>G | - | IntronicSNV | - | 1/16 |
6-32411833-C-T | HLA-DRA | c.*146C>T | - | IntronicSNV | - | 4/4 |
6-31097453-T-G | PSORS1C1 | c.13+31T>G | - | IntronicSNV | - | 3/5 |
17-44828931-G-A | NSF | c.2106G>A | p.Lys702Lys | Synonymous | 19/21 | - |
14-72704544-G-A | RGS6 | c.85-114259G>A | - | IntronicSNV | - | 2/17 |
19-10678842-T-C | CDKN2D | c.141+347A>G | - | IntronicSNV | - | 2/2 |
1-150821847-G-C | ARNT | c.183-3064C>G | - | IntronicSNV | - | 3/20 |
12-57696677-G-A | R3HDM2 | c.207+282C>T | - | IntronicSNV | - | 4/23 |
6-31927342-A-G | SKIV2L | c.126+165A>G | - | IntronicSNV | - | 2/27 |
6-31928691-G-A | SKIV2L | c.545-127G>A | - | IntronicSNV | - | 6/27 |
17-20058510-C-T | SPECC1 | c.283+44635C>T | - | IntronicSNV | - | 3/7 |
1-150814174-A-G | ARNT | c.228-2044T>C | - | IntronicSNV | - | 4/20 |
11-108809585-C-A | DDX10 | c.2451-1388C>A | - | IntronicSNV | - | 17/17 |
6-169047090-G-A | SMOC2 | c.908-4271G>A | - | IntronicSNV | - | 9/12 |
3-49752372-C-T | RNF123 | c.3011-636C>T | - | IntronicSNV | - | 31/38 |
1-205739266-C-T | RAB29 | c.*204G>A | - | 3-UTRSNV | 6/6 | - |
6-31838441-T-C | SLC44A4 | c.850A>G | p.Met284Val | Missense | 10/20 | - |
17-26888725-G-A | PIGS | c.469-78C>T | - | IntronicSNV | - | 5/11 |
3-194353875-G-T | TMEM44 | c.70C>A | p.His24Asn | Missense | 1/11 | - |
3-12159294-G-A | SYN2 | c.378-22857G>A | - | intron_variant | - | 2/13 |
17-41331306-C-T | NBR1 | c.166-105C>T | - | IntronicSNV | - | 3/20 |
1-150638572-T-G | GOLPH3L | c.184-2333A>C | - | IntronicSNV | - | 2/4 |
19-9868404-C-A | ZNF846 | c.1349G>T | p.Cys450Phe | Missense | 6/6 | - |
6-30030057-G-A | ZNRD1 | c.303G>A | p.Gln101Gln | Synonymous | 4/5 | - |
11-120528479-T-C | GRIK4 | c.1-2549T>C | - | IntergenicSNV | - | 1/20 |
13-111301996-C-T | CARS2 | c.1054+1385G>A | - | IntronicSNV | - | 10/14 |
11-77773926-C-A | NDUFC2-KCTD14 | c.310+10118G>T | - | IntronicSNV | - | 2/3 |
7-64267756-C-A | ZNF138 | c.4-7540C>A | - | IntronicSNV | - | 1/2 |
6-30611350-C-T | ATAT1 | c.*11C>T | - | 3-UTRSNV | 11/11 | - |
11-61557803-T-C | TMEM258 | c.113+162A>G | - | IntronicSNV | - | 2/3 |
2-169662024-A-T | NOSTRIN | c.-122+2841A>T | - | intron_variant | - | 1/14 |
1-231521478-C-T | EGLN1 | c.892-11633G>A | - | IntronicSNV | - | 1/4 |
1-150809919-T-C | ARNT | c.442-950A>G | - | IntronicSNV | - | 5/20 |
22-37493178-G-A | TMPRSS6 | c.364-423C>T | - | IntronicSNV | - | 3/17 |
6-30650026-G-A | PPP1R18 | c.1611+2159C>T | - | IntronicSNV | - | 1/2 |
3-49762662-G-C | IP6K1 | c.*1893C>G | - | 3-UTRSNV | 6/6 | - |
19-50028040-T-C | FCGRT | c.871+7T>C | - | IntronicSNV | - | 5/6 |
10-104596924-C-T | CYP17A1 | c.195G>A | p.Ser65Ser | Synonymous | 1/8 | - |
3-69370396-C-T | FRMD4B | c.163-7728G>A | - | IntronicSNV | - | 1/22 |
6-32179438-G-A | NOTCH4 | c.2681-725C>T | - | IntronicSNV | - | 17/29 |
12-88896224-T-C | KITLG | c.*2749A>G | - | IntronicSNV | 9/9 | - |
2-234655303-G-T | UGT1A4 | c.868-20377G>T | - | IntronicSNV | - | 1/4 |
11-118478330-G-A | PHLDB1 | c.-179+943G>A | - | intron_variant | - | 1/23 |
6-31236567-T-C | HLA-C | c.*379A>G | - | 3-UTRSNV | 8/8 | - |
8-22172702-C-T | PIWIL2 | c.2208+44C>T | - | IntronicSNV | - | 18/22 |
5-132198199-G-A | GDF9 | c.447C>T | p.Thr149Thr | Synonymous | 2/2 | - |
6-31237406-G-C | HLA-C | c.1016-104C>G | - | IntronicSNV | - | 5/7 |
2-234672722-T-G | UGT1A1 | c.864+2925T>G | - | IntronicSNV | - | 1/4 |
7-2768864-T-C | GNA12 | c.*1951A>G | - | 3-UTRSNV | 4/4 | - |
17-43924200-C-G | SPPL2C | c.1928C>G | p.Pro643Arg | Missense | 1/1 | - |
6-32605884-C-T | HLA-DQA1 | c.82+567C>T | - | IntronicSNV | - | 1/4 |
6-32071893-C-T | TNXB | c.-9+5065G>A | - | intron_variant | - | 1/43 |
17-40835649-T-C | CNTNAP1 | c.68-190T>C | - | IntronicSNV | - | 1/23 |
6-32146492-C-A | RNF5 | c.140+64C>A | - | IntronicSNV | - | 1/5 |
17-40529835-A-G | STAT3 | c.-2+10462T>C | - | intron_variant | - | 1/23 |
5-80723458-C-T | SSBP2 | c.1056+946G>A | - | IntronicSNV | - | 16/16 |
6-32172065-T-G | NOTCH4 | c.2967A>C | p.Gly989Gly | Synonymous | 19/30 | - |
1-76213024-T-G | ACADM | c.708+1425T>G | - | IntronicSNV | - | 8/11 |
4-10082156-C-A | WDR1 | c.864+825G>T | - | IntronicSNV | - | 8/11 |
17-41244435-T-G | BRCA1 | c.3113A>C | p.Glu1038Ala | Missense | 10/23 | - |
1-202718202-G-A | KDM5B | c.1887C>T | p.His629His | Synonymous | 14/27 | - |
12-121128926-C-T | MLEC | c.236-2968C>T | - | IntronicSNV | - | 1/4 |
6-32411833-C-A | HLA-DRA | c.*146C>A | - | IntronicSNV | - | 4/4 |
17-26888725-G-C | PIGS | c.469-78C>G | - | IntronicSNV | - | 5/11 |
2-234647478-A-G | UGT1A4 | c.867+19145A>G | - | IntronicSNV | - | 1/4 |
6-29342775-G-A | OR12D3 | c.290C>T | p.Thr97Ile | Missense | 1/1 | - |
6-32138545-A-C | AGPAT1 | c.335-168T>G | - | IntronicSNV | - | 3/6 |
8-116648565-A-C | TRPS1 | c.1-12701T>G | - | IntronicSNV | - | 1/6 |
6-30080231-G-T | TRIM31 | c.352C>A | p.Arg118Ser | Missense | 2/9 | - |
12-11174276-G-A | TAS2R19 | c.895C>T | p.Arg299Cys | Missense | 1/1 | - |
X-44190465-C-T | EFHC2 | c.42+12328G>A | - | IntronicSNV | - | 1/14 |
7-141478800-G-A | TAS2R4 | c.512G>A | p.Ser171Asn | Missense | 1/1 | - |
7-158711584-A-G | WDR60 | c.1921+24A>G | - | IntronicSNV | - | 15/24 |
2-219156979-G-A | TMBIM1 | c.-41+210C>T | - | intron_variant | - | 1/11 |
11-61603510-C-T | FADS2 | c.208-1740C>T | - | IntronicSNV | - | 1/11 |
11-61603510-C-A | FADS2 | c.208-1740C>A | - | IntronicSNV | - | 1/11 |
2-3658674-A-G | COLEC11 | c.131-2227A>G | - | IntronicSNV | - | 2/6 |
17-10614442-A-G | ADPRM | c.1010A>G | p.Glu337Gly | Missense | 4/4 | - |
17-56585872-G-C | MTMR4 | c.508C>G | p.Leu170Val | Missense | 7/19 | - |
1-246425984-A-G | SMYD3 | c.354+64519T>C | - | IntronicSNV | - | 5/11 |
1-22451845-T-C | WNT4 | c.314-3776A>G | - | IntronicSNV | - | 2/4 |
1-22451845-T-G | WNT4 | c.314-3776A>C | - | IntronicSNV | - | 2/4 |
1-227942842-T-A | SNAP47 | c.633-3854T>A | - | IntronicSNV | - | 2/4 |
1-227942842-T-C | SNAP47 | c.633-3854T>C | - | IntronicSNV | - | 2/4 |
1-227942842-T-G | SNAP47 | c.633-3854T>G | - | IntronicSNV | - | 2/4 |
11-870446-G-A | CHID1 | c.1013C>T | p.Ala338Val | Missense | 11/13 | - |
11-870446-G-C | CHID1 | c.1013C>G | p.Ala338Gly | Missense | 11/13 | - |
1-153613783-A-G | CHTOP | c.220-939A>G | - | IntronicSNV | - | 3/5 |
1-153613783-A-T | CHTOP | c.220-939A>T | - | IntronicSNV | - | 3/5 |
5-77759362-A-T | SCAMP1 | c.849+4177A>T | - | intron_variant | - | 9/9 |
4-7219907-G-A | SORCS2 | c.480+25054G>A | - | IntronicSNV | - | 1/26 |
6-29648377-T-C | ZFP57 | c.-364+462A>G | - | intron_variant | - | 1/4 |
1-236207687-C-T | NID1 | c.752+1070G>A | - | IntronicSNV | - | 3/19 |
10-1157410-A-G | WDR37 | c.1103+6203A>G | - | IntronicSNV | - | 11/13 |
2-219349752-C-T | USP37 | c.1670+635G>A | - | IntronicSNV | - | 16/25 |
10-88546128-A-C | BMPR1A | c.-268+29452A>C | - | intron_variant | - | 1/12 |
3-134205071-G-T | CEP63 | c.-425G>T | - | 5_prime_UTR_variant | 1/16 | - |
2-178679676-C-T | PDE11A | c.405+1880G>A | - | IntronicSNV | - | 6/16 |
17-7164563-C-T | CLDN7 | c.224-259G>A | - | IntronicSNV | - | 1/3 |
17-7164563-C-G | CLDN7 | c.224-259G>C | - | IntronicSNV | - | 1/3 |
11-72429141-G-A | ARAP1 | c.510-3775C>T | - | IntronicSNV | - | 3/34 |
4-157683685-C-T | PDGFC | c.*557G>A | - | 3-UTRSNV | 6/6 | - |
10-104637992-A-T | AS3MT | c.611-144A>T | - | IntronicSNV | - | 7/10 |
15-67361308-T-G | SMAD3 | c.206+2610T>G | - | IntronicSNV | - | 1/8 |
6-30032522-A-C | ZNRD1 | c.*48A>C | - | 3-UTRSNV | 5/5 | - |
7-1094819-G-A | C7orf50 | c.130-45040C>T | - | IntronicSNV | - | 2/4 |
16-10232086-A-T | GRIN2A | c.414+41769T>A | - | IntronicSNV | - | 3/13 |
6-42932200-G-T | PEX6 | c.2816C>A | p.Pro939Gln | Missense | 17/17 | - |
6-42932200-G-C | PEX6 | c.2816C>G | p.Pro939Arg | Missense | 17/17 | - |
6-32554472-A-C | HLA-DRB1 | c.101-2317T>G | - | IntronicSNV | - | 1/5 |
17-43924337-A-C | SPPL2C | c.*10A>C | - | 3-UTRSNV | 1/1 | - |
17-44073973-T-C | MAPT | c.1716T>C | p.Asn572Asn | Synonymous | 10/14 | - |
11-118486067-T-C | PHLDB1 | c.184+670T>C | - | IntronicSNV | - | 4/23 |
6-32160920-C-A | GPSM3 | c.1-630G>T | - | IntronicSNV | - | 3/7 |
6-32160920-C-T | GPSM3 | c.1-630G>A | - | IntronicSNV | - | 3/7 |
3-41930219-A-T | ULK4 | c.1578-4775T>A | - | IntronicSNV | - | 16/36 |
3-129274363-G-T | PLXND1 | c.*792C>A | - | 3-UTRSNV | 36/36 | - |
17-80762839-T-C | TBCD | c.951-912T>C | - | IntronicSNV | - | 9/38 |
10-94414263-A-T | KIF11 | c.*710A>T | - | 3-UTRSNV | 22/22 | - |
3-194325383-C-G | TMEM44 | c.1018-209G>C | - | IntronicSNV | - | 8/10 |
6-32050758-C-A | TNXB | c.3446-655G>T | - | IntronicSNV | - | 8/43 |
17-44249199-T-A | KANSL1 | c.311A>T | p.Lys104Met | Missense | 2/15 | - |
3-125733081-G-T | SLC41A3 | c.970+1256C>A | - | IntronicSNV | - | 8/10 |
2-24502554-G-T | ITSN2 | c.1945-3836C>A | - | IntronicSNV | - | 17/39 |
17-6481933-G-A | KIAA0753 | c.*1134C>T | - | 3-UTRSNV | 19/19 | - |
6-30977680-G-A | MUC22 | c.1-804G>A | - | IntronicSNV | - | 1/4 |
15-93610139-A-G | RGMA | c.130+6006T>C | - | IntronicSNV | - | 2/3 |
7-2057934-C-T | MAD1L1 | c.1219-3657G>A | - | IntronicSNV | - | 12/18 |
17-28646057-A-G | TMIGD1 | c.641-126T>C | - | IntronicSNV | - | 4/6 |
2-86362204-C-G | PTCD3 | c.1778+94C>G | - | IntronicSNV | - | 21/23 |
2-86362204-C-A | PTCD3 | c.1778+94C>A | - | IntronicSNV | - | 21/23 |
2-86362204-C-T | PTCD3 | c.1778+94C>T | - | IntronicSNV | - | 21/23 |
12-123447928-T-C | ABCB9 | c.-88+2906A>G | - | intron_variant | - | 1/10 |
2-55757885-T-G | CFAP36 | c.397+1757T>G | - | IntronicSNV | - | 4/9 |
2-55757885-T-C | CFAP36 | c.397+1757T>C | - | IntronicSNV | - | 4/9 |
19-37686953-G-T | ZNF585B | c.73-5901C>A | - | IntronicSNV | - | 2/4 |
11-47663049-A-G | MTCH2 | c.87+882T>C | - | IntronicSNV | - | 1/12 |
2-169721381-A-G | NOSTRIN | c.1188A>G | p.Gly396Gly | Synonymous | 15/15 | - |
6-31094703-C-T | PSORS1C1 | c.-65+1087C>T | - | intron_variant | - | 2/5 |
17-40835922-A-C | CNTNAP1 | c.151A>C | p.Arg51Arg | Synonymous | 2/24 | - |
12-120884291-C-T | GATC | c.8C>T | p.Ser3Leu | Missense | 1/4 | - |
11-61604814-C-A | FADS2 | c.208-436C>A | - | IntronicSNV | - | 1/11 |
1-154516578-G-A | TDRD10 | c.643G>A | p.Val215Ile | Missense | 9/13 | - |
16-10216024-G-C | GRIN2A | c.414+57831C>G | - | IntronicSNV | - | 3/13 |
6-32628428-C-A | HLA-DQB1 | c.773-402G>T | - | IntronicSNV | - | 4/4 |
15-83430396-T-C | FSD2 | c.1997+458A>G | - | IntronicSNV | - | 12/12 |
11-47385923-G-A | SPI1 | c.143-4332C>T | - | IntronicSNV | - | 2/4 |
6-31083656-G-A | CDSN | c.*146C>T | - | 3-UTRSNV | 2/2 | - |
9-136139265-C-A | ABO | c.29-1694G>T | - | IntronicSNV | - | 1/7 |
6-32411035-A-T | HLA-DRA | c.402A>T | p.Ile134Ile | Synonymous | 3/5 | - |
14-93171553-A-T | LGMN | c.1192-501T>A | - | IntronicSNV | - | 12/13 |
1-3086496-C-G | PRDM16 | c.38-16193C>G | - | IntronicSNV | - | 1/16 |
1-3086496-C-T | PRDM16 | c.38-16193C>T | - | IntronicSNV | - | 1/16 |
11-126138453-C-T | SRPRA | c.117+130G>A | - | IntronicSNV | - | 1/13 |
8-22154133-T-C | PIWIL2 | c.1181+6274T>C | - | IntronicSNV | - | 10/22 |
6-29644502-C-T | ZFP57 | c.123+156G>A | - | IntronicSNV | - | 2/4 |
6-29644502-C-G | ZFP57 | c.123+156G>C | - | IntronicSNV | - | 2/4 |
12-123572495-C-T | PITPNM2 | c.-96+22437G>A | - | intron_variant | - | 1/24 |
15-100842614-T-A | ADAMTS17 | c.617-21008A>T | - | IntronicSNV | - | 3/21 |
2-188230146-C-T | CALCRL | c.501-1917G>A | - | IntronicSNV | - | 8/14 |
2-188230146-C-A | CALCRL | c.501-1917G>T | - | IntronicSNV | - | 8/14 |
9-130698029-G-C | DPM2 | c.227C>G | p.Thr76Ser | Missense | 4/4 | - |
4-141379314-T-C | MGAT4D | c.877+1352A>G | - | IntronicSNV | - | 8/10 |
15-78742754-C-G | IREB2 | c.106+10531C>G | - | IntronicSNV | - | 2/21 |
15-78742754-C-A | IREB2 | c.106+10531C>A | - | IntronicSNV | - | 2/21 |
15-82444437-A-G | EFL1 | c.2358T>C | p.Gly786Gly | Synonymous | 18/20 | - |
1-205762406-C-T | SLC41A1 | c.1357-1560G>A | - | IntronicSNV | - | 10/10 |
8-101222499-A-G | SPAG1 | c.1097-2819A>G | - | IntronicSNV | - | 10/18 |
1-231550168-A-G | EGLN1 | c.891+6576T>C | - | IntronicSNV | - | 1/4 |
2-108912673-C-A | SULT1C2 | c.277+1863C>A | - | IntronicSNV | - | 3/8 |
11-74559481-C-T | XRRA1 | c.1383G>A | p.Pro461Pro | Synonymous | 15/19 | - |
19-37907792-T-C | ZNF569 | c.239-2471A>G | - | IntronicSNV | - | 5/5 |
6-62525626-G-T | KHDRBS2 | c.810+78914C>A | - | IntronicSNV | - | 6/8 |
1-214466068-G-A | SMYD2 | c.173+11298G>A | - | IntronicSNV | - | 1/11 |
22-50647969-C-T | SELENOO | c.940-641C>T | - | IntronicSNV | - | 3/8 |
17-56659018-C-T | TEX14 | c.3263G>A | p.Gly1088Asp | Missense | 20/33 | - |
6-31132649-A-C | POU5F1 | c.817-5T>G | - | IntronicSNV | - | 4/4 |
6-30036083-C-A | PPP1R11 | c.70-284C>A | - | IntronicSNV | - | 1/2 |
17-44247164-A-G | KANSL1 | c.1289+1057T>C | - | IntronicSNV | - | 2/14 |
11-44881786-C-T | TSPAN18 | c.-152-93C>T | - | intron_variant | - | 2/9 |
8-116670347-C-T | TRPS1 | c.-122+10425G>A | - | intron_variant | - | 1/6 |
6-32410576-T-C | HLA-DRA | c.328+106T>C | - | IntronicSNV | - | 2/4 |
17-6515454-C-T | KIAA0753 | c.1330G>A | p.Asp444Asn | Missense | 8/19 | - |
15-40915045-T-G | KNL1 | c.2583T>G | p.Thr861Thr | Synonymous | 10/26 | - |
8-145631197-A-C | CPSF1 | c.144+3202T>G | - | IntronicSNV | - | 2/37 |
8-145044749-A-G | PLEC | c.193+4596T>C | - | IntronicSNV | - | 2/32 |
8-145580984-A-G | FBXL6 | c.621+133T>C | - | IntronicSNV | - | 3/8 |
1-86959424-C-A | CLCA1 | c.1680+142C>A | - | IntronicSNV | - | 10/13 |
17-7150552-A-G | CTDNEP1 | c.169+44T>C | - | IntronicSNV | - | 3/8 |
13-52520704-C-A | ATP7B | c.2866-90G>T | - | IntronicSNV | - | 12/20 |
2-236896521-G-A | AGAP1 | c.1486+19254G>A | - | IntronicSNV | - | 12/16 |
5-43539868-A-C | PAIP1 | c.735-731T>G | - | IntronicSNV | - | 4/10 |
15-78841220-T-A | PSMA4 | c.720T>A | p.His240Gln | Missense | 9/9 | - |
11-2544871-T-C | KCNQ1 | c.387-4287T>C | - | IntronicSNV | - | 1/15 |
11-8815115-T-C | ST5 | c.-26+17679A>G | - | intron_variant | - | 4/22 |
6-30689001-T-A | TUBB | c.57+661T>A | - | IntronicSNV | - | 1/3 |
15-85330745-C-T | ZNF592 | c.2220+2619C>T | - | IntronicSNV | - | 4/10 |
12-88949124-G-T | KITLG | c.16-9482C>A | - | IntronicSNV | - | 1/8 |
3-41862873-A-G | ULK4 | c.1765-1875T>C | - | IntronicSNV | - | 18/36 |
6-26373740-G-T | BTN3A2 | c.964+99G>T | - | IntronicSNV | - | 6/8 |
15-40914772-C-T | KNL1 | c.2310C>T | p.Val770Val | Synonymous | 10/26 | - |
14-24898751-G-C | CBLN3 | c.1-491C>G | - | IntergenicSNV | 1/3 | - |
15-85310071-G-A | ZNF592 | c.-150+2025G>A | - | intron_variant | - | 2/10 |
19-37642165-G-A | ZNF585A | c.*326C>T | - | 3-UTRSNV | 6/6 | - |
1-1812521-C-A | GNB1 | c.-96+9738G>T | - | intron_variant | - | 1/11 |
1-1812521-C-T | GNB1 | c.-96+9738G>A | - | intron_variant | - | 1/11 |
6-32171075-A-T | NOTCH4 | c.3231+472T>A | - | IntronicSNV | - | 20/29 |
2-234657983-T-C | UGT1A4 | c.868-17697T>C | - | IntronicSNV | - | 1/4 |
10-12661057-C-T | CAMK1D | c.225-47678C>T | - | IntronicSNV | - | 2/9 |
1-76213024-T-C | ACADM | c.708+1425T>C | - | IntronicSNV | - | 8/11 |
5-140581510-G-T | PCDHB11 | c.2163G>T | p.Ser721Ser | Synonymous | 1/1 | - |
4-38019436-T-G | TBC1D1 | c.883-539T>G | - | IntronicSNV | - | 3/19 |
10-49801239-C-T | ARHGAP22 | c.35-10042G>A | - | IntronicSNV | - | 1/9 |
1-76255228-G-A | RABGGTB | c.309+187G>A | - | IntronicSNV | - | 3/8 |
17-44102604-T-C | MAPT | c.*1067T>C | - | 3-UTRSNV | 14/14 | - |
10-104618695-A-G | BORCS7 | c.142-1394A>G | - | IntronicSNV | - | 1/5 |
13-114835802-T-C | RASA3 | c.173+3393A>G | - | IntronicSNV | - | 2/23 |
6-32064726-T-C | TNXB | c.904A>G | p.Thr302Ala | Missense | 3/44 | - |
6-32064726-T-G | TNXB | c.904A>C | p.Thr302Pro | Missense | 3/44 | - |
8-144379934-C-T | ZNF696 | c.*964C>T | - | 3-UTRSNV | 3/3 | - |
19-36900778-A-C | ZFP82 | c.1-87T>G | - | IntronicSNV | - | 1/4 |
19-10666112-G-T | KRI1 | c.1618-87C>A | - | intron_variant | - | 16/18 |
2-204301296-G-A | ABI2 | c.*9221G>A | - | IntergenicSNV | 10/10 | - |
15-78865893-G-C | CHRNA5 | c.107-7260G>C | - | IntronicSNV | - | 1/5 |
15-78865893-G-A | CHRNA5 | c.107-7260G>A | - | IntronicSNV | - | 1/5 |
2-219293326-C-G | VIL1 | c.567+266C>G | - | IntronicSNV | - | 6/19 |
19-10666112-G-A | KRI1 | c.1618-87C>T | - | intron_variant | - | 16/18 |
2-234649302-G-A | UGT1A4 | c.867+20969G>A | - | IntronicSNV | - | 1/4 |
12-124099925-T-C | DDX55 | c.956+62T>C | - | IntronicSNV | - | 9/13 |
10-104891198-T-C | NT5C2 | c.175+7965A>G | - | IntronicSNV | - | 4/18 |
17-44862613-A-G | WNT3 | c.81-11338T>C | - | IntronicSNV | - | 1/4 |
11-14747427-C-A | PDE3B | c.979-46056C>A | - | IntronicSNV | - | 1/15 |
9-33137303-C-T | B4GALT1 | c.413-1881G>A | - | IntronicSNV | - | 1/5 |
15-42085017-A-C | MAPKBP1 | c.115-7004A>C | - | IntronicSNV | - | 2/30 |
11-118538187-G-T | TREH | c.90-4039C>A | - | IntronicSNV | - | 1/15 |
6-26387546-C-T | BTN2A2 | c.443-695C>T | - | IntronicSNV | - | 3/7 |
11-118538187-G-A | TREH | c.90-4039C>T | - | IntronicSNV | - | 1/15 |
2-86315741-C-T | POLR1A | c.678G>A | p.Thr226Thr | Synonymous | 6/34 | - |
12-112440998-T-C | TMEM116 | c.-199+2063A>G | - | intron_variant | - | 2/9 |
15-79082431-A-G | ADAMTS7 | c.1029-251T>C | - | IntronicSNV | - | 6/23 |
X-106234294-T-C | MORC4 | c.308+2166A>G | - | IntronicSNV | - | 3/16 |
2-3673648-G-A | COLEC11 | c.203-11475G>A | - | IntronicSNV | - | 3/6 |
17-7164563-C-A | CLDN7 | c.224-259G>T | - | IntronicSNV | - | 1/3 |
7-44095999-T-G | DBNL | c.328-357T>G | - | IntronicSNV | - | 4/12 |
11-18645843-C-G | SPTY2D1 | c.61-7307G>C | - | IntronicSNV | - | 1/5 |
17-7109995-A-G | DLG4 | c.225+1498T>C | - | IntronicSNV | - | 4/21 |
7-1542697-G-A | INTS1 | c.189C>T | p.Ala63Ala | Synonymous | 3/48 | - |
4-2941988-T-C | NOP14 | c.2200-616A>G | - | IntronicSNV | - | 15/18 |
12-11060695-T-C | TAS2R13 | c.*291A>G | - | 3-UTRSNV | 1/1 | - |
12-120155577-G-A | CIT | c.4042+473C>T | - | IntronicSNV | - | 31/46 |
10-104637992-A-G | AS3MT | c.611-144A>G | - | IntronicSNV | - | 7/10 |
2-219287276-C-A | VIL1 | c.1-1226C>A | - | IntronicSNV | - | 1/19 |
7-73245519-T-C | CLDN4 | c.1-13T>C | - | 5-UTRSNV | 1/1 | - |
3-12116620-G-A | SYN2 | c.378-65531G>A | - | intron_variant | - | 2/13 |
7-26403574-T-C | SNX10 | c.112-581T>C | - | IntronicSNV | - | 3/6 |
1-85738395-G-A | BCL10 | c.58-1806C>T | - | IntronicSNV | - | 1/2 |
15-40746748-A-C | BAHD1 | c.1-3916A>C | - | IntronicSNV | - | 1/6 |
14-75388183-C-T | RPS6KL1 | c.62G>A | p.Arg21Gln | Missense | 3/12 | - |
1-53073327-G-C | GPX7 | c.401-607G>C | - | IntronicSNV | - | 2/2 |
6-25849620-A-G | SLC17A3 | c.1344T>C | p.Ser448Ser | Synonymous | 11/13 | - |
14-93170741-T-A | LGMN | c.1260-35A>T | - | IntronicSNV | - | 13/13 |
14-93170741-T-C | LGMN | c.1260-35A>G | - | IntronicSNV | - | 13/13 |
17-28603685-T-C | BLMH | c.646-2470A>G | - | IntronicSNV | - | 6/11 |
13-53228119-C-T | SUGT1 | c.96+881C>T | - | IntronicSNV | - | 2/13 |
13-53228119-C-G | SUGT1 | c.96+881C>G | - | IntronicSNV | - | 2/13 |
6-30122623-T-C | TRIM10 | c.929-360A>G | - | IntronicSNV | - | 6/6 |
2-3660752-T-C | COLEC11 | c.131-149T>C | - | IntronicSNV | - | 2/6 |
8-101222499-A-T | SPAG1 | c.1097-2819A>T | - | IntronicSNV | - | 10/18 |
1-36861854-A-C | LSM10 | c.-25+1514T>G | - | intron_variant | - | 1/1 |
10-1166400-C-A | WDR37 | c.1104-3758C>A | - | IntronicSNV | - | 11/13 |
7-40225129-C-T | SUGCT | c.248-2965C>T | - | IntronicSNV | - | 3/14 |
6-31475413-G-C | MICB | c.1024+105G>C | - | IntronicSNV | - | 5/5 |
1-230818304-G-A | COG2 | c.1167-1016G>A | - | IntronicSNV | - | 10/17 |
13-53309433-T-C | CNMD | c.214-1939A>G | - | IntronicSNV | - | 2/6 |
17-41179864-C-G | RND2 | c.301-214C>G | - | IntronicSNV | - | 3/4 |
17-41179864-C-T | RND2 | c.301-214C>T | - | IntronicSNV | - | 3/4 |
2-668618-T-C | TMEM18 | c.*962A>G | - | 3-UTRSNV | 5/5 | - |
10-102016268-G-A | CWF19L1 | c.290-35C>T | - | IntronicSNV | - | 4/13 |
3-41877414-T-C | ULK4 | c.1706A>G | p.Lys569Arg | Missense | 18/37 | - |
1-150729793-G-A | CTSS | c.249+541C>T | - | IntronicSNV | - | 3/7 |
1-40035686-C-T | PABPC4 | c.504-12G>A | - | IntronicSNV | - | 3/15 |
1-40035686-C-A | PABPC4 | c.504-12G>T | - | IntronicSNV | - | 3/15 |
9-140205159-T-A | EXD3 | c.2185-1007A>T | - | IntronicSNV | - | 19/21 |
3-134261654-C-A | CEP63 | c.556-2774C>A | - | IntronicSNV | - | 7/15 |
3-134261654-C-T | CEP63 | c.556-2774C>T | - | IntronicSNV | - | 7/15 |
1-237046160-A-G | MTR | c.2676+2024A>G | - | IntronicSNV | - | 25/32 |
3-186436398-A-G | KNG1 | c.195+872A>G | - | IntronicSNV | - | 1/9 |
7-65376456-C-T | VKORC1L1 | c.195-37202C>T | - | IntronicSNV | - | 1/2 |
16-10232086-A-C | GRIN2A | c.414+41769T>G | - | IntronicSNV | - | 3/13 |
1-182760859-G-T | NPL | c.-71-508G>T | - | intron_variant | - | 1/12 |
6-27775674-A-G | HIST1H2BL | c.11T>C | p.Leu4Pro | Missense | 1/1 | - |
3-15737698-T-G | ANKRD28 | c.1512A>C | p.Gln504His | Missense | 15/28 | - |
4-26337615-T-A | RBPJ | c.20+14945T>A | - | IntronicSNV | - | 1/10 |
19-37879589-A-G | ZNF527 | c.638A>G | p.His213Arg | Missense | 5/5 | - |
22-42336172-G-A | CENPM | c.403-972C>T | - | IntronicSNV | - | 5/5 |
1-26646730-A-G | CD52 | c.123A>G | p.Ile41Met | Missense | 2/2 | - |
19-37879589-A-T | ZNF527 | c.638A>T | p.His213Leu | Missense | 5/5 | - |
22-42336172-G-C | CENPM | c.403-972C>G | - | IntronicSNV | - | 5/5 |
10-1166400-C-T | WDR37 | c.1104-3758C>T | - | IntronicSNV | - | 11/13 |
2-219338789-T-G | USP37 | c.2299+564A>C | - | IntronicSNV | - | 20/25 |
2-219338789-T-A | USP37 | c.2299+564A>T | - | IntronicSNV | - | 20/25 |
16-28922149-C-T | RABEP2 | c.1089+60G>A | - | IntronicSNV | - | 7/12 |
4-100054312-A-G | ADH4 | c.583-1397T>C | - | IntronicSNV | - | 5/8 |
6-32134656-T-C | EGFL8 | c.335-31T>C | - | IntronicSNV | - | 4/8 |
10-104595420-T-G | CYP17A1 | c.298-271A>C | - | IntronicSNV | - | 1/7 |
1-150804429-A-C | ARNT | c.825-50T>G | - | IntronicSNV | - | 8/20 |
1-235642359-A-C | B3GALNT2 | c.651+1011T>G | - | IntronicSNV | - | 5/11 |
1-235642359-A-G | B3GALNT2 | c.651+1011T>C | - | IntronicSNV | - | 5/11 |
6-101295873-A-G | ASCC3 | c.801+151T>C | - | IntronicSNV | - | 4/41 |
18-77510030-A-G | CTDP1 | c.2748-3622A>G | - | IntronicSNV | - | 12/12 |
6-32408012-G-A | HLA-DRA | c.82+203G>A | - | IntronicSNV | - | 1/4 |
3-41925398-C-T | ULK4 | c.1624G>A | p.Ala542Thr | Missense | 17/37 | - |
3-41925398-C-G | ULK4 | c.1624G>C | p.Ala542Pro | Missense | 17/37 | - |
11-14709324-A-G | PDE3B | c.978+42725A>G | - | IntronicSNV | - | 1/15 |
17-78079643-C-T | GAA | c.642C>T | p.Ser214Ser | Synonymous | 3/20 | - |
6-28124114-C-T | ZKSCAN8 | c.*2319C>T | - | 3-UTRSNV | 7/7 | - |
6-31521302-G-T | NFKBIL1 | c.335-4103G>T | - | IntronicSNV | - | 2/3 |
6-31521302-G-C | NFKBIL1 | c.335-4103G>C | - | IntronicSNV | - | 2/3 |
6-33166034-A-G | RXRB | c.640+51T>C | - | IntronicSNV | - | 3/9 |
3-125797913-G-A | SLC41A3 | c.-28+5023C>T | - | intron_variant | - | 1/10 |
15-102025218-G-A | PCSK6 | c.294+4361C>T | - | intron_variant | - | 2/22 |
3-69096614-G-T | TMF1 | c.1242C>A | p.Ser414Ser | Synonymous | 2/17 | - |
3-69096614-G-A | TMF1 | c.1242C>T | p.Ser414Ser | Synonymous | 2/17 | - |
3-69096614-G-C | TMF1 | c.1242C>G | p.Ser414Ser | Synonymous | 2/17 | - |
7-43709735-C-T | COA1 | c.1-21522G>A | - | IntronicSNV | - | 1/5 |
12-39130885-G-C | CPNE8 | c.723-6725C>G | - | IntronicSNV | - | 10/19 |
12-39130885-G-A | CPNE8 | c.723-6725C>T | - | IntronicSNV | - | 10/19 |
6-32190028-A-G | NOTCH4 | c.451+260T>C | - | IntronicSNV | - | 3/29 |
6-32155581-A-G | PBX2 | c.735-22T>C | - | IntronicSNV | - | 4/8 |
15-82444437-A-T | EFL1 | c.2358T>A | p.Gly786Gly | Synonymous | 18/20 | - |
11-14784110-G-C | PDE3B | c.979-9373G>C | - | IntronicSNV | - | 1/15 |
3-8687561-C-T | SSUH2 | c.-185+6115G>A | - | intron_variant | - | 1/11 |
3-194325383-C-T | TMEM44 | c.1018-209G>A | - | IntronicSNV | - | 8/10 |
12-112250200-G-A | ALDH2 | c.*2821G>A | - | IntergenicSNV | 13/13 | - |
12-112323016-C-G | MAPKAPK5 | c.849-704C>G | - | IntronicSNV | - | 9/13 |
12-112323016-C-T | MAPKAPK5 | c.849-704C>T | - | IntronicSNV | - | 9/13 |
4-10087995-C-T | WDR1 | c.531+1336G>A | - | IntronicSNV | - | 5/11 |
3-125733081-G-A | SLC41A3 | c.970+1256C>T | - | IntronicSNV | - | 8/10 |
22-45245359-C-T | PRR5-ARHGAP8 | c.1270+419C>T | - | intron_variant | - | 13/14 |
17-41257134-T-C | BRCA1 | c.213-161A>G | - | IntronicSNV | - | 4/22 |
6-126081319-G-C | HEY2 | c.*371G>C | - | 3-UTRSNV | 5/5 | - |
6-126081319-G-T | HEY2 | c.*371G>T | - | 3-UTRSNV | 5/5 | - |
17-35643510-A-G | ACACA | c.228-1639T>C | - | IntronicSNV | - | 3/55 |
1-150657011-T-G | GOLPH3L | c.183+10121A>C | - | IntronicSNV | - | 2/4 |
1-150657011-T-C | GOLPH3L | c.183+10121A>G | - | IntronicSNV | - | 2/4 |
2-3646226-T-C | COLEC11 | c.-27+3468T>C | - | intron_variant | - | 1/6 |
10-124214921-C-T | ARMS2 | c.297+381C>T | - | IntronicSNV | - | 1/1 |
2-86330726-A-G | POLR1A | c.77+2097T>C | - | IntronicSNV | - | 1/33 |
17-34005513-C-T | AP2B1 | c.2324+4173C>T | - | IntronicSNV | - | 17/21 |
11-18439738-G-A | LDHC | c.244+2890G>A | - | IntronicSNV | - | 3/7 |
1-145533175-T-C | ITGA10 | c.1270T>C | p.Leu424Leu | Synonymous | 11/30 | - |
1-227957591-C-T | SNAP47 | c.1248+2807C>T | - | IntronicSNV | - | 4/4 |
1-44438396-A-C | DPH2 | c.*185A>C | - | 3-UTRSNV | 6/6 | - |
1-26627478-T-G | UBXN11 | c.100+707A>C | - | IntronicSNV | - | 4/14 |
6-32411850-T-C | HLA-DRA | c.*163T>C | - | IntronicSNV | 5/5 | - |
1-182369078-G-A | TEDDM1 | c.543C>T | p.Pro181Pro | Synonymous | 1/1 | - |
16-28837515-T-G | ATXN2L | c.466-46T>G | - | IntronicSNV | - | 4/21 |
16-28837515-T-C | ATXN2L | c.466-46T>C | - | IntronicSNV | - | 4/21 |
19-49979893-A-G | FLT3LG | c.342+70A>G | - | IntronicSNV | - | 5/8 |
4-100054827-C-T | ADH4 | c.583-1912G>A | - | IntronicSNV | - | 5/8 |
17-40724276-C-T | MLX | c.*655C>T | - | 3-UTRSNV | 8/8 | - |
8-144695499-C-T | TSTA3 | c.811-34G>A | - | IntronicSNV | - | 9/10 |
8-144695499-C-A | TSTA3 | c.811-34G>T | - | IntronicSNV | - | 9/10 |
X-106330707-T-C | RBM41 | c.927+959A>G | - | IntronicSNV | - | 5/6 |
6-32411850-T-G | HLA-DRA | c.*163T>G | - | IntronicSNV | 5/5 | - |
6-62405686-G-A | KHDRBS2 | c.952+1414C>T | - | IntronicSNV | - | 8/8 |
1-110277949-T-C | GSTM3 | c.*1744A>G | - | 3-UTRSNV | 9/9 | - |
9-136538366-G-C | SARDH | c.2164-1547C>G | - | IntronicSNV | - | 17/20 |
17-28646057-A-T | TMIGD1 | c.641-126T>A | - | IntronicSNV | - | 4/6 |
6-31083156-A-G | CDSN | c.*646T>C | - | 3-UTRSNV | 2/2 | - |
12-110341933-A-C | TCHP | c.380A>C | p.Lys127Thr | Missense | 3/13 | - |
12-110341933-A-G | TCHP | c.380A>G | p.Lys127Arg | Missense | 3/13 | - |
4-99952710-A-G | METAP1 | c.166+2641A>G | - | IntronicSNV | - | 2/10 |
22-36007045-G-A | MB | c.204C>T | p.Thr68Thr | Synonymous | 3/4 | - |
22-36007045-G-T | MB | c.204C>A | p.Thr68Thr | Synonymous | 3/4 | - |
6-31717692-A-C | MSH5 | c.812+2483A>C | - | IntronicSNV | - | 10/24 |
2-198906354-A-G | PLCL1 | c.241-42128A>G | - | IntronicSNV | - | 1/5 |
1-227834400-G-T | ZNF678 | c.250+29G>T | - | IntronicSNV | - | 3/3 |
6-32411523-T-A | HLA-DRA | c.611-10T>A | - | IntronicSNV | - | 3/4 |
17-4884332-G-A | CAMTA2 | c.700+188C>T | - | IntronicSNV | - | 8/22 |
16-9910348-A-C | GRIN2A | c.2168+5773T>G | - | IntronicSNV | - | 11/13 |
6-31838713-G-T | SLC44A4 | c.687C>A | p.Tyr229* | Nonsense | 9/20 | - |
6-31838713-G-A | SLC44A4 | c.687C>T | p.Tyr229Tyr | Synonymous | 9/20 | - |
9-5181610-T-C | INSL6 | c.289+3704A>G | - | IntronicSNV | - | 1/1 |
15-81543469-G-A | IL16 | c.313-8644G>A | - | IntronicSNV | - | 2/18 |
6-33625696-T-C | ITPR3 | c.283-13T>C | - | IntronicSNV | - | 3/57 |
11-56143424-A-G | OR8U1 | c.325A>G | p.Ile109Val | Missense | 1/1 | - |
19-41932084-G-A | B3GNT8 | c.600C>T | p.Ala200Ala | Synonymous | 3/3 | - |
19-41932084-G-C | B3GNT8 | c.600C>G | p.Ala200Ala | Synonymous | 3/3 | - |
17-43923180-G-T | SPPL2C | c.908G>T | p.Arg303Leu | Missense | 1/1 | - |
17-43923180-G-A | SPPL2C | c.908G>A | p.Arg303His | Missense | 1/1 | - |
3-129190001-G-T | IFT122 | c.639+1741G>T | - | IntronicSNV | - | 8/28 |
1-227966581-T-C | SNAP47 | c.1249-1647T>C | - | IntronicSNV | - | 4/4 |
1-231550168-A-C | EGLN1 | c.891+6576T>G | - | IntronicSNV | - | 1/4 |
3-15752830-T-C | ANKRD28 | c.1184-49A>G | - | IntronicSNV | - | 11/27 |
8-144351394-A-G | GLI4 | c.1-173A>G | - | IntronicSNV | - | 1/3 |
8-145582839-T-C | SLC52A2 | c.1-115T>C | - | IntronicSNV | - | 1/4 |
17-43549526-A-G | PLEKHM1 | c.923+2940T>C | - | IntronicSNV | - | 4/11 |
6-31084964-T-C | CDSN | c.428A>G | p.Asn143Ser | Missense | 2/2 | - |
4-38018181-C-T | TBC1D1 | c.882+1587C>T | - | IntronicSNV | - | 3/19 |
13-44443977-T-C | CCDC122 | c.1-465A>G | - | IntronicSNV | - | 2/6 |
15-40757035-A-C | BAHD1 | c.2052+289A>C | - | IntronicSNV | - | 5/6 |
3-15797454-A-G | ANKRD28 | c.191-4127T>C | - | IntronicSNV | - | 3/27 |
17-35675511-T-G | ACACA | c.227+11602A>C | - | IntronicSNV | - | 3/55 |
1-26646726-A-G | CD52 | c.119A>G | p.Asn40Ser | Missense | 2/2 | - |
19-36858085-T-C | ZFP14 | c.9+701A>G | - | IntronicSNV | - | 2/4 |
17-20097462-A-G | SPECC1 | c.284-10184A>G | - | IntronicSNV | - | 3/7 |
1-26596080-G-A | CEP85 | c.1624G>A | p.Ala542Thr | Missense | 9/14 | - |
3-98002587-A-T | OR5H2 | c.856A>T | p.Ile286Leu | Missense | 1/1 | - |
7-95781748-G-A | SLC25A13 | c.1312-5740C>T | - | IntronicSNV | - | 13/17 |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
2-187710756-A-G | ZSWIM2 | c.243-1272T>C | - | IntronicSNV | - | 2/8 |
17-43907896-T-C | CRHR1 | c.756T>C | p.Thr252Thr | Synonymous | 8/14 | - |
6-32627714-T-G | HLA-DQB1 | c.*299A>C | - | 3-UTRSNV | 5/5 | - |
16-10216024-G-A | GRIN2A | c.414+57831C>T | - | IntronicSNV | - | 3/13 |
17-78078709-T-C | GAA | c.324T>C | p.Cys108Cys | Synonymous | 2/20 | - |
9-123685092-T-C | TRAF1 | c.228+891A>G | - | IntronicSNV | - | 3/7 |
7-30694260-C-T | CRHR2 | c.1176+395G>A | - | IntronicSNV | - | 12/12 |
9-6956850-A-C | KDM4C | c.922-24075A>C | - | IntronicSNV | - | 8/21 |
2-219472734-G-A | PLCD4 | c.-93G>A | - | 5_prime_UTR_variant | 1/16 | - |
15-41032138-A-G | RMDN3 | c.971+193T>C | - | IntronicSNV | - | 7/12 |
6-21130870-A-G | CDKAL1 | c.1299+22176A>G | - | IntronicSNV | - | 13/15 |
17-14101029-G-T | COX10 | c.928+5491G>T | - | IntronicSNV | - | 6/6 |
19-36825458-C-T | ZFP14 | c.*5668G>A | - | 3-UTRSNV | 5/5 | - |
7-2268970-A-G | MAD1L1 | c.150+649T>C | - | IntronicSNV | - | 3/18 |
21-44987079-C-T | HSF2BP | c.796+25027G>A | - | IntronicSNV | - | 8/8 |
4-120240238-T-C | FABP2 | c.357A>G | p.Val119Val | Synonymous | 4/4 | - |
17-30533970-A-G | RHOT1 | c.1458A>G | p.Glu486Glu | Synonymous | 17/19 | - |
3-186435370-G-A | KNG1 | c.39G>A | p.Leu13Leu | Synonymous | 1/10 | - |
1-76331320-T-A | MSH4 | c.1231-1879T>A | - | IntronicSNV | - | 8/19 |
11-108719088-G-A | DDX10 | c.2248-3792G>A | - | IntronicSNV | - | 15/17 |
19-41932612-C-T | B3GNT8 | c.72G>A | p.Glu24Glu | Synonymous | 3/3 | - |
9-133367704-G-T | ASS1 | c.971-2550G>T | - | IntronicSNV | - | 13/15 |
17-44068924-G-A | MAPT | c.1479G>A | p.Pro493Pro | Synonymous | 9/14 | - |
17-44068924-G-T | MAPT | c.1479G>T | p.Pro493Pro | Synonymous | 9/14 | - |
11-118492591-G-A | PHLDB1 | c.356-3059G>A | - | IntronicSNV | - | 5/23 |
12-11061122-T-A | TAS2R13 | c.776A>T | p.Asn259Ile | Missense | 1/1 | - |
13-44058595-A-G | ENOX1 | c.1-71545T>C | - | IntronicSNV | - | 2/16 |
7-73246461-A-G | CLDN4 | c.*300A>G | - | 3-UTRSNV | 1/1 | - |
17-10617803-G-T | TMEM220 | c.*967C>A | - | 3-UTRSNV | 6/6 | - |
17-10617803-G-A | TMEM220 | c.*967C>T | - | 3-UTRSNV | 6/6 | - |
1-154438084-C-T | IL6R | c.*228C>T | - | 3-UTRSNV | 10/10 | - |
1-154438084-C-G | IL6R | c.*228C>G | - | 3-UTRSNV | 10/10 | - |
19-1495277-C-G | REEP6 | c.116-16C>G | - | IntronicSNV | - | 1/4 |
11-118478330-G-C | PHLDB1 | c.-179+943G>C | - | intron_variant | - | 1/23 |
19-36903262-G-A | ZFP82 | c.1-2571C>T | - | IntronicSNV | - | 1/4 |
11-14913575-G-A | CYP2R1 | c.177C>T | p.Ser59Ser | Synonymous | 1/5 | - |
17-44248814-G-A | KANSL1 | c.696C>T | p.Ser232Ser | Synonymous | 2/15 | - |
15-78825562-C-A | HYKK | c.672C>A | p.His224Gln | Missense | 5/5 | - |
17-56517962-G-A | HSF5 | c.1720+18167C>T | - | IntronicSNV | - | 5/5 |
4-174156538-A-G | GALNT7 | c.127-12593A>G | - | IntronicSNV | - | 1/11 |
1-203800426-G-A | ZC3H11A | c.701-363G>A | - | IntronicSNV | - | 10/19 |
3-129274655-C-T | PLXND1 | c.*500G>A | - | 3-UTRSNV | 36/36 | - |
10-94414263-A-C | KIF11 | c.*710A>C | - | 3-UTRSNV | 22/22 | - |
8-22133744-C-G | PIWIL2 | c.-47+202C>G | - | intron_variant | - | 1/22 |
13-36823765-C-T | CCDC169 | c.469-946G>A | - | IntronicSNV | - | 6/7 |
19-21115015-A-G | ZNF85 | c.4-1815A>G | - | IntronicSNV | - | 1/3 |
4-100059619-G-A | ADH4 | c.350+593C>T | - | IntronicSNV | - | 4/8 |
11-36448379-T-C | PRR5L | c.295-5024T>C | - | IntronicSNV | - | 5/9 |
7-99691737-T-C | MCM7 | c.1320+59A>G | - | IntronicSNV | - | 12/13 |
X-106379628-G-A | NUP62CL | c.*11387C>T | - | IntronicSNV | - | 8/8 |
14-105344568-C-T | CEP170B | c.275-212C>T | - | IntronicSNV | - | 4/18 |
7-65587537-C-T | CRCP | c.9-5154C>T | - | IntronicSNV | - | 1/5 |
7-65587537-C-G | CRCP | c.9-5154C>G | - | IntronicSNV | - | 1/5 |
4-100059619-G-T | ADH4 | c.350+593C>A | - | IntronicSNV | - | 4/8 |
6-33173842-G-A | HSD17B8 | c.652-69G>A | - | IntronicSNV | - | 6/8 |
1-36861854-A-T | LSM10 | c.-25+1514T>A | - | intron_variant | - | 1/1 |
16-28933468-C-T | RABEP2 | c.275-2204G>A | - | IntronicSNV | - | 2/12 |
11-892760-A-G | CHID1 | c.701+667T>C | - | IntronicSNV | - | 8/12 |
11-48238549-G-A | OR4B1 | c.188G>A | p.Cys63Tyr | Missense | 1/1 | - |
2-24432839-A-G | ITSN2 | c.4321T>C | p.Leu1441Leu | Synonymous | 35/40 | - |
3-49763338-T-C | IP6K1 | c.*1217A>G | - | 3-UTRSNV | 6/6 | - |
6-46632006-T-C | SLC25A27 | c.507-505T>C | - | IntronicSNV | - | 4/8 |
17-44054696-G-A | MAPT | c.308-1045G>A | - | IntronicSNV | - | 4/13 |
4-120239944-C-T | FABP2 | c.*252G>A | - | 3-UTRSNV | 4/4 | - |
3-49763338-T-G | IP6K1 | c.*1217A>C | - | 3-UTRSNV | 6/6 | - |
6-167710324-T-G | UNC93A | c.499+575T>G | - | IntronicSNV | - | 3/7 |
8-22134826-T-C | PIWIL2 | c.-47+1284T>C | - | intron_variant | - | 1/22 |
19-33100338-T-C | ANKRD27 | c.2176-1600A>G | - | IntronicSNV | - | 22/28 |
6-46657057-A-G | TDRD6 | c.1192A>G | p.Thr398Ala | Missense | 1/4 | - |
6-46682079-A-C | PLA2G7 | c.470+118T>G | - | IntronicSNV | - | 5/11 |
1-9325676-C-T | H6PD | c.*748C>T | - | 3-UTRSNV | 5/5 | - |
10-104572963-T-C | WBP1L | c.904T>C | p.Ser302Pro | Missense | 4/4 | - |
4-141403999-C-A | MGAT4D | c.95-360G>T | - | IntronicSNV | - | 1/10 |
8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
18-74694985-T-C | MBP | c.549+1746A>G | - | IntronicSNV | - | 6/6 |
15-82431219-A-G | EFL1 | c.2990-36T>C | - | IntronicSNV | - | 18/19 |
6-31083813-T-C | CDSN | c.1579A>G | p.Asn527Asp | Missense | 2/2 | - |
19-1505874-T-G | ADAMTSL5 | c.*140A>C | - | 3-UTRSNV | 12/12 | - |
4-49063872-C-A | CWH43 | c.2065C>A | p.His689Asn | Missense | 16/16 | - |
15-42875276-C-A | STARD9 | c.48-268C>A | - | IntronicSNV | - | 1/32 |
2-219562675-G-A | STK36 | c.2945G>A | p.Gly982Asp | Missense | 25/27 | - |
6-31083813-T-G | CDSN | c.1579A>C | p.Asn527His | Missense | 2/2 | - |
17-43910455-G-A | CRHR1 | c.858-49G>A | - | IntronicSNV | - | 9/13 |
2-234673462-T-C | UGT1A1 | c.865-2218T>C | - | IntronicSNV | - | 1/4 |
13-44095877-C-T | ENOX1 | c.-218-37589G>A | - | intron_variant | - | 2/16 |
X-106462405-C-T | PIH1D3 | c.332+206C>T | - | IntronicSNV | - | 4/6 |
11-19848918-C-T | NAV2 | c.268-5112C>T | - | IntronicSNV | - | 1/37 |
19-33467087-A-C | FAAP24 | c.397-250A>C | - | IntronicSNV | - | 4/4 |
1-109817192-A-G | CELSR2 | c.*521A>G | - | 3-UTRSNV | 34/34 | - |
6-32409484-C-T | HLA-DRA | c.83-741C>T | - | IntronicSNV | - | 1/4 |
2-234658250-A-G | UGT1A4 | c.868-17430A>G | - | IntronicSNV | - | 1/4 |
9-5174638-T-C | INSL6 | c.290-10373A>G | - | IntronicSNV | - | 1/1 |
6-32190217-T-C | NOTCH4 | c.451+71A>G | - | IntronicSNV | - | 3/29 |
17-10080030-T-C | GAS7 | c.183+21495A>G | - | IntronicSNV | - | 1/13 |
6-167707727-C-T | UNC93A | c.88-278C>T | - | IntronicSNV | - | 1/7 |
14-72696620-C-A | RGS6 | c.85-122183C>A | - | IntronicSNV | - | 2/17 |
10-124234320-G-A | HTRA1 | c.472+12680G>A | - | IntronicSNV | - | 1/8 |
19-37684966-A-G | ZNF585B | c.73-3914T>C | - | IntronicSNV | - | 2/4 |
16-28898793-T-C | ATP2A1 | c.678T>C | p.Thr226Thr | Synonymous | 8/23 | - |
2-86365884-G-A | PTCD3 | c.*1202G>A | - | 3-UTRSNV | 24/24 | - |
15-86289363-G-A | AKAP13 | c.*1455G>A | - | 3-UTRSNV | 37/37 | - |
21-44324365-G-A | NDUFV3 | c.170-4609G>A | - | IntronicSNV | - | 2/2 |
17-7109995-A-T | DLG4 | c.225+1498T>A | - | IntronicSNV | - | 4/21 |
2-236859195-T-G | AGAP1 | c.1325-17911T>G | - | IntronicSNV | - | 11/16 |
2-236859195-T-C | AGAP1 | c.1325-17911T>C | - | IntronicSNV | - | 11/16 |
2-236859195-T-A | AGAP1 | c.1325-17911T>A | - | IntronicSNV | - | 11/16 |
8-145031265-G-T | PLEC | c.193+18080C>A | - | IntronicSNV | - | 2/32 |
10-34471937-G-T | PARD3 | c.3429-51426C>A | - | IntronicSNV | - | 22/24 |
1-200957032-G-A | KIF21B | c.3408+392C>T | - | IntronicSNV | - | 24/34 |
6-30075103-T-G | TRIM31 | c.883+727A>C | - | IntronicSNV | - | 6/8 |
8-116660365-A-G | TRPS1 | c.-122+20407T>C | - | intron_variant | - | 1/6 |
10-34459326-C-T | PARD3 | c.3429-38815G>A | - | IntronicSNV | - | 22/24 |
16-89420356-A-C | ANKRD11 | c.1-36929T>G | - | IntronicSNV | - | 2/12 |
16-89420356-A-G | ANKRD11 | c.1-36929T>C | - | IntronicSNV | - | 2/12 |
11-2548175-C-T | KCNQ1 | c.387-983C>T | - | IntronicSNV | - | 1/15 |
11-118529595-A-G | TREH | c.1545+19T>C | - | IntronicSNV | - | 13/15 |
6-31498737-G-A | DDX39B | c.1123-34C>T | - | IntronicSNV | - | 9/10 |
7-6620757-A-G | ZDHHC4 | c.117+448A>G | - | IntronicSNV | - | 3/7 |
2-198517592-A-G | RFTN2 | c.140-6202T>C | - | IntronicSNV | - | 1/8 |
4-57904387-C-T | IGFBP7 | c.585+2603G>A | - | IntronicSNV | - | 2/3 |
1-78557608-A-G | GIPC2 | c.427-3028A>G | - | IntronicSNV | - | 2/5 |
17-44213712-G-A | KANSL1 | c.1289+34509C>T | - | IntronicSNV | - | 2/14 |
11-74525852-T-C | RNF169 | c.724-2789T>C | - | IntronicSNV | - | 3/5 |
6-30039484-C-T | RNF39 | c.683-16G>A | - | IntronicSNV | - | 3/4 |
6-29645118-G-C | ZFP57 | c.1-338C>G | - | IntergenicSNV | 2/5 | - |
6-29645118-G-A | ZFP57 | c.1-338C>T | - | IntergenicSNV | 2/5 | - |
11-876755-T-G | CHID1 | c.960-6256A>C | - | IntronicSNV | - | 10/12 |
11-876755-T-C | CHID1 | c.960-6256A>G | - | IntronicSNV | - | 10/12 |
11-14325401-C-A | RRAS2 | c.109-8000G>T | - | IntronicSNV | - | 1/5 |
8-8206753-A-G | PRAG1 | c.2157-9602T>C | - | IntronicSNV | - | 3/5 |
20-44591324-T-C | ZNF335 | c.1534-503A>G | - | IntronicSNV | - | 9/27 |
1-205801872-A-G | PM20D1 | c.1139T>C | p.Ile380Thr | Missense | 11/13 | - |
3-23541057-A-G | UBE2E2 | c.228-42A>G | - | IntronicSNV | - | 3/5 |
8-633684-A-C | ERICH1 | c.304+8794T>G | - | IntronicSNV | - | 3/5 |
8-633684-A-G | ERICH1 | c.304+8794T>C | - | IntronicSNV | - | 3/5 |
17-44111613-A-G | KANSL1 | c.2580T>C | p.Phe860Phe | Synonymous | 11/15 | - |
18-77473127-C-T | CTDP1 | c.1019C>T | p.Thr340Met | Missense | 7/13 | - |
1-205045087-G-A | CNTN2 | c.*2194G>A | - | 3-UTRSNV | 23/23 | - |
6-32408735-A-C | HLA-DRA | c.82+926A>C | - | IntronicSNV | - | 1/4 |
1-151174772-A-G | PIP5K1A | c.85+3215A>G | - | IntronicSNV | - | 1/14 |
9-123374639-T-C | MEGF9 | c.1087+35A>G | - | IntronicSNV | - | 4/5 |
16-67977382-T-C | LCAT | c.155-267A>G | - | IntronicSNV | - | 1/5 |
17-6511781-A-G | KIAA0753 | c.1716T>C | p.Ala572Ala | Synonymous | 10/19 | - |
7-1010494-T-C | COX19 | c.195-1402A>G | - | IntronicSNV | - | 2/2 |
17-7122624-G-A | DLG4 | c.1-456C>T | - | 5-UTRSNV | 1/22 | - |
16-68721470-T-C | CDH3 | c.1626T>C | p.Asn542Asn | Synonymous | 12/16 | - |
17-41245237-A-G | BRCA1 | c.2311T>C | p.Leu771Leu | Synonymous | 10/23 | - |
X-106467752-T-C | PIH1D3 | c.429+1681T>C | - | IntronicSNV | - | 5/6 |
2-37880588-A-C | CDC42EP3 | c.1-6858T>G | - | IntronicSNV | - | 1/1 |
2-37880588-A-T | CDC42EP3 | c.1-6858T>A | - | IntronicSNV | - | 1/1 |
8-73796190-A-T | KCNB2 | c.580-51980A>T | - | IntronicSNV | - | 2/2 |
8-73796190-A-G | KCNB2 | c.580-51980A>G | - | IntronicSNV | - | 2/2 |
9-136135552-G-A | ABO | c.156-282C>T | - | IntronicSNV | - | 3/7 |
1-111726869-G-A | CEPT1 | c.1188G>A | p.Ala396Ala | Synonymous | 9/9 | - |
6-31128552-A-C | TCF19 | c.239-672A>C | - | IntronicSNV | - | 2/3 |
1-26607726-T-G | SH3BGRL3 | c.*112T>G | - | 3-UTRSNV | 3/3 | - |
6-30042349-G-A | RNF39 | c.567+651C>T | - | IntronicSNV | - | 1/4 |
7-100017454-G-A | ZCWPW1 | c.81C>T | p.Tyr27Tyr | Synonymous | 4/18 | - |
9-130705120-C-T | FAM102A | c.*351G>A | - | 3-UTRSNV | 11/11 | - |
2-219498759-T-G | PLCD4 | c.1607-69T>G | - | IntronicSNV | - | 11/15 |
6-31084288-T-C | CDSN | c.1104A>G | p.Ala368Ala | Synonymous | 2/2 | - |
17-30321567-T-G | SUZ12 | c.1438-16T>G | - | IntronicSNV | - | 12/15 |
17-30321567-T-C | SUZ12 | c.1438-16T>C | - | IntronicSNV | - | 12/15 |
4-57838583-G-T | NOA1 | c.1515+731C>A | - | IntronicSNV | - | 3/6 |
1-109397229-C-A | AKNAD1 | c.1-1943G>T | - | IntronicSNV | - | 1/15 |
7-12433195-T-C | VWDE | c.243+25A>G | - | IntronicSNV | - | 2/28 |
3-158428642-G-A | RARRES1 | c.420C>T | p.Thr140Thr | Synonymous | 3/4 | - |
2-113993344-A-C | PAX8 | c.899-185T>G | - | IntronicSNV | - | 8/11 |
4-76877402-G-A | SDAD1 | c.1855-113C>T | - | IntronicSNV | - | 20/21 |
6-32156908-G-A | PBX2 | c.222-335C>T | - | IntronicSNV | - | 1/8 |
11-74624011-C-A | XRRA1 | c.633-5693G>T | - | IntronicSNV | - | 8/18 |
6-31864304-G-C | EHMT2 | c.329-11C>G | - | IntronicSNV | - | 3/27 |
6-31864304-G-A | EHMT2 | c.329-11C>T | - | IntronicSNV | - | 3/27 |
6-62415147-C-T | KHDRBS2 | c.894-7989G>A | - | IntronicSNV | - | 7/8 |
4-91514884-C-T | CCSER1 | c.1725-34292C>T | - | IntronicSNV | - | 5/10 |
4-91514884-C-G | CCSER1 | c.1725-34292C>G | - | IntronicSNV | - | 5/10 |
8-135506073-T-C | ZFAT | c.3457-15109A>G | - | IntronicSNV | - | 16/16 |
6-62415147-C-A | KHDRBS2 | c.894-7989G>T | - | IntronicSNV | - | 7/8 |
1-231489353-G-T | SPRTN | c.*246G>T | - | 3-UTRSNV | 5/5 | - |
1-231489353-G-A | SPRTN | c.*246G>A | - | 3-UTRSNV | 5/5 | - |
9-71034203-C-G | PGM5 | c.1043+26814C>G | - | IntronicSNV | - | 6/10 |
9-71034203-C-T | PGM5 | c.1043+26814C>T | - | IntronicSNV | - | 6/10 |
17-7347042-A-C | FGF11 | c.*577A>C | - | 3-UTRSNV | 5/5 | - |
19-37964700-G-A | ZNF570 | c.34-2083G>A | - | IntronicSNV | - | 2/4 |
3-171524190-C-A | PLD1 | c.-32+3999G>T | - | intron_variant | - | 1/26 |
17-7162451-G-T | ELP5 | c.836+206G>T | - | IntronicSNV | - | 8/8 |
1-227753072-T-C | ZNF678 | c.30+1647T>C | - | IntronicSNV | - | 1/3 |
17-30380381-A-G | LRRC37B | c.*34A>G | - | 3-UTRSNV | 12/12 | - |
6-30031091-T-C | ZNRD1 | c.356+981T>C | - | IntronicSNV | - | 4/4 |
2-109890276-T-C | SH3RF3 | c.574-73854T>C | - | IntronicSNV | - | 1/9 |
17-647988-C-T | GEMIN4 | c.*118G>A | - | 3-UTRSNV | 2/2 | - |
17-7162451-G-A | ELP5 | c.836+206G>A | - | IntronicSNV | - | 8/8 |
2-202122995-A-G | CASP8 | c.1-8215A>G | - | IntronicSNV | - | 2/9 |
13-95272552-T-C | GPR180 | c.737-780T>C | - | IntronicSNV | - | 5/8 |
4-91515710-G-T | CCSER1 | c.1725-33466G>T | - | IntronicSNV | - | 5/10 |
X-117819773-A-C | DOCK11 | c.*3A>C | - | 3-UTRSNV | 53/53 | - |
7-158710879-G-A | WDR60 | c.1792-552G>A | - | IntronicSNV | - | 14/24 |
8-48362889-A-G | SPIDR | c.1097+9785A>G | - | IntronicSNV | - | 8/19 |
3-15716898-C-G | ANKRD28 | c.2875+507G>C | - | IntronicSNV | - | 27/27 |
3-15716898-C-T | ANKRD28 | c.2875+507G>A | - | IntronicSNV | - | 27/27 |
4-87728676-A-C | PTPN13 | c.6689-37A>C | - | IntronicSNV | - | 43/46 |
4-100060623-C-T | ADH4 | c.263-324G>A | - | IntronicSNV | - | 3/8 |
7-2752487-G-T | AMZ1 | c.1472G>T | p.Arg491Leu | Missense | 7/7 | - |
2-86335208-T-A | PTCD3 | c.105-265T>A | - | IntronicSNV | - | 1/23 |
2-86335208-T-C | PTCD3 | c.105-265T>C | - | IntronicSNV | - | 1/23 |
12-133384864-G-A | GOLGA3 | c.791C>T | p.Pro264Leu | Missense | 5/24 | - |
17-10080030-T-A | GAS7 | c.183+21495A>T | - | IntronicSNV | - | 1/13 |
3-125787632-G-A | SLC41A3 | c.1-570C>T | - | IntronicSNV | - | 1/10 |
7-1887362-G-A | MAD1L1 | c.1999-31498C>T | - | IntronicSNV | - | 18/18 |
6-29645038-C-A | ZFP57 | c.1-258G>T | - | IntergenicSNV | 2/5 | - |
6-29645038-C-T | ZFP57 | c.1-258G>A | - | IntergenicSNV | 2/5 | - |
1-26872832-G-A | RPS6KA1 | c.109-526G>A | - | IntronicSNV | - | 2/21 |
6-169048303-G-C | SMOC2 | c.908-3058G>C | - | IntronicSNV | - | 9/12 |
6-169048303-G-A | SMOC2 | c.908-3058G>A | - | IntronicSNV | - | 9/12 |
6-116355188-C-T | FRK | c.344+25943G>A | - | IntronicSNV | - | 1/7 |
17-30326827-C-T | SUZ12 | c.*805C>T | - | 3-UTRSNV | 16/16 | - |
10-104814162-T-C | CNNM2 | c.1842T>C | p.Ser614Ser | Synonymous | 3/8 | - |
3-97188153-G-A | EPHA6 | c.1895-6043G>A | - | IntronicSNV | - | 7/17 |
15-40910668-C-T | KNL1 | c.323-489C>T | - | IntronicSNV | - | 8/25 |
15-40910668-C-G | KNL1 | c.323-489C>G | - | IntronicSNV | - | 8/25 |
6-33055605-G-A | HLA-DPB1 | c.*1294G>A | - | 3_prime_UTR_variant | 6/6 | - |
17-6493198-T-C | KIAA0753 | c.2687A>G | p.Gln896Arg | Missense | 18/19 | - |
6-31092308-A-G | PSORS1C1 | c.1-5102A>G | - | IntronicSNV | - | 1/5 |
17-28592047-C-T | BLMH | c.1216+1856G>A | - | IntronicSNV | - | 11/11 |
6-31379115-G-C | MICA | c.592G>C | p.Gly198Arg | Missense | 3/6 | - |
17-40714804-C-A | COASY | c.164C>A | p.Ser55Tyr | Missense | 1/9 | - |
2-198881668-G-A | PLCL1 | c.241-66814G>A | - | IntronicSNV | - | 1/5 |
7-100081944-G-A | NYAP1 | c.-85+320G>A | - | intron_variant | - | 1/6 |
6-27835272-T-C | HIST1H1B | c.36A>G | p.Pro12Pro | Synonymous | 1/1 | - |
16-89448663-G-A | ANKRD11 | c.-60+36029C>T | - | intron_variant | - | 2/12 |
17-17623988-G-A | RAI1 | c.-148-3354G>A | - | intron_variant | - | 1/5 |
4-100055739-G-A | ADH4 | c.582+1878C>T | - | IntronicSNV | - | 5/8 |
6-33053352-C-T | HLA-DPB1 | c.647-204C>T | - | IntronicSNV | - | 3/5 |
6-33054721-C-T | HLA-DPB1 | c.*410C>T | - | 3_prime_UTR_variant | 6/6 | - |
17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
17-44061278-C-T | MAPT | c.1108C>T | p.Arg370Trp | Missense | 6/14 | - |
1-150815411-G-A | ARNT | c.228-3281C>T | - | IntronicSNV | - | 4/20 |
1-150815411-G-T | ARNT | c.228-3281C>A | - | IntronicSNV | - | 4/20 |
8-145581557-G-A | FBXL6 | c.417-111C>T | - | IntronicSNV | - | 1/8 |
1-153634058-G-A | SNAPIN | c.*281G>A | - | 3-UTRSNV | 4/4 | - |
8-144396396-T-C | TOP1MT | c.1553+1501A>G | - | IntronicSNV | - | 12/13 |
2-73716810-G-A | ALMS1 | c.7727G>A | - | missense_variant | 10/23 | - |
2-73716810-G-C | ALMS1 | c.7727G>C | - | missense_variant | 10/23 | - |
16-4934549-G-C | PPL | c.4107C>G | p.Ser1369Arg | Missense | 22/22 | - |
16-4934549-G-A | PPL | c.4107C>T | p.Ser1369Ser | Synonymous | 22/22 | - |
3-125740393-C-T | SLC41A3 | c.745+1236G>A | - | IntronicSNV | - | 6/10 |
7-1968953-T-C | MAD1L1 | c.1807+7370A>G | - | IntronicSNV | - | 17/18 |
1-153634058-G-T | SNAPIN | c.*281G>T | - | 3-UTRSNV | 4/4 | - |
6-32134510-G-A | EGFL8 | c.257G>A | p.Arg86Lys | Missense | 4/9 | - |
8-144413416-G-T | TOP1MT | c.216C>A | p.Asp72Glu | Missense | 2/14 | - |
6-32410576-T-A | HLA-DRA | c.328+106T>A | - | IntronicSNV | - | 2/4 |
10-94415078-A-C | KIF11 | c.*1525A>C | - | 3-UTRSNV | 22/22 | - |
10-94415078-A-T | KIF11 | c.*1525A>T | - | 3-UTRSNV | 22/22 | - |
11-118504742-T-C | PHLDB1 | c.2380-1369T>C | - | IntronicSNV | - | 10/23 |
18-77794810-G-A | RBFA | c.158+157G>A | - | IntronicSNV | - | 1/6 |
1-26527255-G-A | CATSPER4 | c.988-66G>A | - | IntronicSNV | - | 7/9 |
6-31556581-T-A | LST1 | c.*128T>A | - | 3-UTRSNV | 3/3 | - |
6-33055346-T-G | HLA-DPB1 | c.*1035T>G | - | 3_prime_UTR_variant | 6/6 | - |
1-45139252-A-C | TMEM53 | c.61+751T>G | - | IntronicSNV | - | 1/2 |
5-77784738-A-G | LHFPL2 | c.669T>C | p.Asn223Asn | Synonymous | 5/5 | - |
6-33172932-G-A | HSD17B8 | c.270+36G>A | - | IntronicSNV | - | 2/8 |
4-100045616-C-T | ADH4 | c.1120G>A | p.Val374Ile | Missense | 9/9 | - |
16-456416-T-C | DECR2 | c.201+19T>C | - | IntronicSNV | - | 3/8 |
16-456416-T-G | DECR2 | c.201+19T>G | - | IntronicSNV | - | 3/8 |
1-150527354-G-A | ADAMTSL4 | c.1234+411G>A | - | IntronicSNV | - | 7/18 |
7-1976556-G-A | MAD1L1 | c.1597-23C>T | - | IntronicSNV | - | 16/18 |
20-42741977-C-T | JPH2 | c.*1459G>A | - | 3-UTRSNV | 6/6 | - |
20-33734493-G-A | EDEM2 | c.218+135C>T | - | IntronicSNV | - | 2/10 |
3-97188583-T-C | EPHA6 | c.1895-5613T>C | - | IntronicSNV | - | 7/17 |
6-31472720-G-T | MICB | c.71-674G>T | - | IntronicSNV | - | 1/5 |
11-14669802-C-A | PDE3B | c.978+3203C>A | - | IntronicSNV | - | 1/15 |
12-49318800-G-A | FKBP11 | c.195+29C>T | - | IntronicSNV | - | 2/5 |
9-140610042-T-C | EHMT1 | c.86-1036T>C | - | IntronicSNV | - | 2/26 |
1-154468135-T-C | SHE | c.718+3453A>G | - | IntronicSNV | - | 2/5 |
10-104634107-A-G | AS3MT | c.459-242A>G | - | IntronicSNV | - | 5/10 |
17-44165803-T-C | KANSL1 | c.1432-5895A>G | - | IntronicSNV | - | 3/14 |
6-30652781-C-G | PPP1R18 | c.1015G>C | p.Gly339Arg | Missense | 1/3 | - |
6-26372786-A-G | BTN3A2 | c.716-339A>G | - | IntronicSNV | - | 3/8 |
17-43923683-A-G | SPPL2C | c.1411A>G | p.Ile471Val | Missense | 1/1 | - |
4-100060513-C-T | ADH4 | c.263-214G>A | - | IntronicSNV | - | 3/8 |
12-133418069-C-T | CHFR | c.*71G>A | - | 3-UTRSNV | 18/18 | - |
2-219432995-C-A | USP37 | c.-324G>T | - | 5_prime_UTR_variant | 1/26 | - |
17-44800046-G-A | NSF | c.1762-3869G>A | - | IntronicSNV | - | 15/20 |
2-219103580-A-T | ARPC2 | c.455+7A>T | - | IntronicSNV | - | 5/9 |
2-219103580-A-G | ARPC2 | c.455+7A>G | - | IntronicSNV | - | 5/9 |
10-1126293-T-C | WDR37 | c.332-59T>C | - | IntronicSNV | - | 4/13 |
9-123453281-T-C | MEGF9 | c.601+22755A>G | - | IntronicSNV | - | 1/5 |
2-219555262-G-A | STK36 | c.1748G>A | p.Arg583Gln | Missense | 14/27 | - |
2-219555262-G-T | STK36 | c.1748G>T | p.Arg583Leu | Missense | 14/27 | - |
11-55136219-C-T | OR4A15 | c.860C>T | p.Ala287Val | Missense | 1/1 | - |
6-31113842-A-G | CCHCR1 | c.1314-257T>C | - | IntronicSNV | - | 10/17 |
2-166898249-T-C | SCN1A | c.2144-270A>G | - | IntronicSNV | - | 15/28 |
12-133423695-A-G | CHFR | c.1705T>C | p.Leu569Leu | Synonymous | 15/18 | - |
10-94382950-T-C | KIF11 | c.1217+1720T>C | - | IntronicSNV | - | 10/21 |
7-44112529-A-G | POLM | c.*361T>C | - | 3-UTRSNV | 11/11 | - |
X-117865893-T-G | IL13RA1 | c.88+4204T>G | - | IntronicSNV | - | 1/10 |
1-150808889-C-G | ARNT | c.522G>C | p.Val174Val | Synonymous | 6/21 | - |
9-140636333-G-A | EHMT1 | c.824-1490G>A | - | IntronicSNV | - | 4/26 |
8-141526231-C-G | CHRAC1 | c.*885C>G | - | 3-UTRSNV | 3/3 | - |
8-141526231-C-T | CHRAC1 | c.*885C>T | - | 3-UTRSNV | 3/3 | - |
17-35694047-C-A | ACACA | c.-27+2717G>T | - | intron_variant | - | 2/55 |
19-1495277-C-T | REEP6 | c.116-16C>T | - | IntronicSNV | - | 1/4 |
16-28883241-A-T | SH2B1 | c.1450A>T | p.Thr484Ser | Missense | 5/9 | - |
16-28883241-A-G | SH2B1 | c.1450A>G | p.Thr484Ala | Missense | 5/9 | - |
19-44511589-A-G | ZNF230 | c.15+344A>G | - | IntronicSNV | - | 2/4 |
12-112244413-C-T | ALDH2 | c.1521+2636C>T | - | IntronicSNV | - | 12/12 |
7-141490238-G-T | TAS2R5 | c.77G>T | p.Ser26Ile | Missense | 1/1 | - |
7-141490238-G-A | TAS2R5 | c.77G>A | p.Ser26Asn | Missense | 1/1 | - |