Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
13-32953182-A-G | BRCA2 | c.8755-272A>G | - | IntronicSNV | - | 21/26 |
5-42719239-A-C | GHR | c.1630A>C | p.Ile544Leu | Missense | 10/10 | - |
17-61901197-T-G | FTSJ3 | c.1270A>C | p.Ser424Arg | Missense | 13/21 | - |
8-27257787-T-G | PTK2B | c.204+2482T>G | - | IntronicSNV | - | 3/31 |
19-7134402-T-C | INSR | c.2683-2074A>G | - | IntronicSNV | - | 13/21 |
21-35233517-G-T | ITSN1 | c.3890+2421G>T | - | IntronicSNV | - | 31/39 |
1-3682070-C-T | CCDC27 | c.1453-1029C>T | - | IntronicSNV | - | 8/11 |
2-170053505-C-A | LRP2 | c.8614G>T | p.Ala2872Ser | Missense | 46/79 | - |
2-170053505-C-T | LRP2 | c.8614G>A | p.Ala2872Thr | Missense | 46/79 | - |
8-79697483-A-T | IL7 | c.147+12824T>A | - | IntronicSNV | - | 2/5 |
14-73665354-G-T | PSEN1 | c.868+517G>T | - | IntronicSNV | - | 8/11 |
14-73665354-G-A | PSEN1 | c.868+517G>A | - | IntronicSNV | - | 8/11 |
8-10072245-A-G | MSRA | c.211+6834A>G | - | IntronicSNV | - | 2/5 |
9-118942439-C-A | PAPPA | c.416-6994C>A | - | IntronicSNV | - | 1/21 |
9-118942439-C-T | PAPPA | c.416-6994C>T | - | IntronicSNV | - | 1/21 |
12-93968197-T-C | SOCS2 | c.140-301T>C | - | IntronicSNV | - | 2/2 |
20-56098733-T-C | CTCFL | c.529A>G | p.Thr177Ala | Missense | 3/12 | - |
12-7288432-A-G | CLSTN3 | c.625A>G | p.Ser209Gly | Missense | 5/18 | - |
12-7288432-A-C | CLSTN3 | c.625A>C | p.Ser209Arg | Missense | 5/18 | - |
8-31523972-A-G | NRG1 | c.37+27025A>G | - | IntronicSNV | - | 1/11 |
6-31603770-A-G | PRRC2A | c.5568A>G | p.Gln1856Gln | Synonymous | 25/31 | - |
19-7227871-T-G | INSR | c.652+39485A>C | - | IntronicSNV | - | 2/21 |
13-103523312-C-G | ERCC5 | c.2679-1236C>G | - | IntronicSNV | - | 12/14 |
4-23864412-T-C | PPARGC1A | c.234+21963A>G | - | IntronicSNV | - | 2/12 |
6-152149435-T-C | ESR1 | c.453-14297T>C | - | IntronicSNV | - | 1/7 |
1-115856078-C-T | NGF | c.-136-19707G>A | - | intron_variant | - | 1/2 |
6-152478820-G-T | SYNE1 | c.23791-1588C>A | - | IntronicSNV | - | 131/145 |
21-27272159-T-C | APP | c.1964-2174A>G | - | IntronicSNV | - | 15/17 |
19-4024020-G-A | PIAS4 | c.455-14G>A | - | IntronicSNV | - | 2/10 |
19-4024020-G-C | PIAS4 | c.455-14G>C | - | IntronicSNV | - | 2/10 |
2-47694037-T-C | MSH2 | c.1661+90T>C | - | IntronicSNV | - | 10/15 |
15-43661802-T-C | ZSCAN29 | c.310A>G | p.Arg104Gly | Missense | 1/5 | - |
2-216956929-C-T | TMEM169 | c.1-3758C>T | - | IntronicSNV | - | 1/2 |
8-48852225-C-T | PRKDC | c.999G>A | p.Met333Ile | Missense | 11/86 | - |
11-73669334-A-C | DNAJB13 | c.69-28A>C | - | IntronicSNV | - | 1/7 |
3-189548862-G-A | TP63 | c.579+22547G>A | - | IntronicSNV | - | 4/13 |
9-119032615-G-A | PAPPA | c.2862-989G>A | - | IntronicSNV | - | 8/21 |
1-65867519-G-A | DNAJC6 | c.2183G>A | p.Ser728Asn | Missense | 15/19 | - |
19-50967640-G-C | MYBPC2 | c.3266G>C | p.Arg1089Pro | Missense | 27/28 | - |
19-50967640-G-A | MYBPC2 | c.3266G>A | p.Arg1089His | Missense | 27/28 | - |
21-27399399-C-G | APP | c.663-5041G>C | - | IntronicSNV | - | 5/17 |
13-32981279-T-A | N4BP2L1 | c.396+108A>T | - | IntronicSNV | - | 3/4 |
14-20876253-A-G | TEP1 | c.346T>C | p.Ser116Pro | Missense | 2/55 | - |
6-108962642-C-T | FOXO3 | c.622-22016C>T | - | IntronicSNV | - | 1/2 |
20-56190634-C-G | ZBP1 | c.262G>C | p.Glu88Gln | Missense | 3/8 | - |
17-44061278-C-T | MAPT | c.1108C>T | p.Arg370Trp | Missense | 6/14 | - |
22-46656246-T-G | PKDREJ | c.2974A>C | p.Thr992Pro | Missense | 1/1 | - |
3-178927410-A-G | PIK3CA | c.1173A>G | p.Ile391Met | Missense | 7/21 | - |
22-41549297-A-C | EP300 | c.3142+943A>C | - | IntronicSNV | - | 16/30 |
10-90673024-G-T | STAMBPL1 | c.587G>T | p.Ser196Ile | Missense | 6/11 | - |
10-50678317-C-G | ERCC6 | c.3689G>C | p.Arg1230Pro | Missense | 18/21 | - |
10-90673024-G-A | STAMBPL1 | c.587G>A | p.Ser196Asn | Missense | 6/11 | - |
11-67404726-A-C | TBX10 | c.8-1992T>G | - | IntronicSNV | - | 1/7 |
11-73768553-C-T | C2CD3 | c.4988G>A | p.Ser1663Asn | Missense | 25/31 | - |
3-189570356-T-G | TP63 | c.580-11665T>G | - | IntronicSNV | - | 4/13 |
1-154965113-G-C | FLAD1 | c.1555-76G>C | - | IntronicSNV | - | 5/6 |
1-154965113-G-A | FLAD1 | c.1555-76G>A | - | IntronicSNV | - | 5/6 |
1-154965113-G-T | FLAD1 | c.1555-76G>T | - | IntronicSNV | - | 5/6 |
10-50678317-C-T | ERCC6 | c.3689G>A | p.Arg1230His | Missense | 18/21 | - |
17-64724614-G-C | PRKCA | c.919-4192G>C | - | IntronicSNV | - | 8/16 |
22-29046240-A-T | TTC28 | c.103-20422T>A | - | IntronicSNV | - | 1/22 |
4-83289373-C-T | HNRNPD | c.290+3308G>A | - | IntronicSNV | - | 2/8 |
21-35229893-C-A | ITSN1 | c.3783+732C>A | - | IntronicSNV | - | 30/39 |
6-35980121-C-T | SLC26A8 | c.217G>A | p.Val73Met | Missense | 3/20 | - |
7-881668-C-T | SUN1 | c.202C>T | p.His68Tyr | Missense | 3/18 | - |
8-141822261-A-T | PTK2 | c.933+6115T>A | - | IntronicSNV | - | 10/31 |
3-119733710-T-C | GSK3B | c.89-12624A>G | - | IntronicSNV | - | 1/10 |
1-22971892-A-G | C1QC | c.181+1195A>G | - | IntronicSNV | - | 2/2 |
2-47601106-T-C | EPCAM | c.344T>C | p.Met115Thr | Missense | 3/9 | - |
10-89647154-G-A | PTEN | c.80-6628G>A | - | IntronicSNV | - | 1/8 |
4-110914427-A-T | EGF | c.2735-1462A>T | - | IntronicSNV | - | 18/22 |
16-1376892-C-A | UBE2I | c.*2098C>A | - | 3-UTRSNV | 7/7 | - |
4-110914427-A-G | EGF | c.2735-1462A>G | - | IntronicSNV | - | 18/22 |
12-9232268-T-C | A2M | c.2998A>G | p.Ile1000Val | Missense | 24/36 | - |
8-90930168-C-T | OSGIN2 | c.397-3140C>T | - | IntronicSNV | - | 4/5 |
15-40562640-G-A | BUB1B-PAK6 | c.859-1785G>A | - | IntronicSNV | - | 5/10 |
6-108953975-A-G | FOXO3 | c.622-30683A>G | - | IntronicSNV | - | 1/2 |
1-161234965-G-C | PCP4L1 | c.9+6192G>C | - | IntronicSNV | - | 1/2 |
1-161234965-G-A | PCP4L1 | c.9+6192G>A | - | IntronicSNV | - | 1/2 |
8-10136381-A-G | MSRA | c.332-22663A>G | - | IntronicSNV | - | 3/5 |
8-10136381-A-T | MSRA | c.332-22663A>T | - | IntronicSNV | - | 3/5 |
8-10170545-A-G | MSRA | c.437-6848A>G | - | IntronicSNV | - | 4/5 |
19-1642507-T-C | TCF3 | c.145+3847A>G | - | IntronicSNV | - | 3/18 |
18-60812513-G-T | BCL2 | c.586-16521C>A | - | IntronicSNV | - | 2/2 |
4-110901198-G-A | EGF | c.2124G>A | p.Met708Ile | Missense | 14/23 | - |
1-66075952-G-C | LEPR | c.1968G>C | p.Lys656Asn | Missense | 14/20 | - |
5-35906981-C-T | CAPSL | c.526-2233G>A | - | IntronicSNV | - | 4/4 |
14-20897064-C-T | KLHL33 | c.1546G>A | p.Ala516Thr | Missense | 4/4 | - |
6-132212108-T-A | ENPP1 | c.*457T>A | - | 3-UTRSNV | 25/25 | - |
15-43767774-G-T | TP53BP1 | c.1074C>A | p.Asp358Glu | Missense | 9/28 | - |
19-49447713-G-A | DHDH | c.844G>A | p.Gly282Arg | Missense | 6/7 | - |
18-60812513-G-A | BCL2 | c.586-16521C>T | - | IntronicSNV | - | 2/2 |
9-32526146-G-A | DDX58 | c.19C>T | p.Arg7Cys | Missense | 1/18 | - |
11-122982316-C-G | CLMP | c.29-13656G>C | - | IntronicSNV | - | 1/6 |
17-64800552-A-G | PRKCA | c.*397A>G | - | 3-UTRSNV | 17/17 | - |
1-66075952-G-T | LEPR | c.1968G>T | p.Lys656Asn | Missense | 14/20 | - |
8-9988909-G-C | MSRA | c.143-76434G>C | - | IntronicSNV | - | 1/5 |
1-161278677-A-C | MPZ | c.67+952T>G | - | IntronicSNV | - | 1/5 |
1-161278677-A-T | MPZ | c.67+952T>A | - | IntronicSNV | - | 1/5 |
15-43767774-G-C | TP53BP1 | c.1074C>G | p.Asp358Glu | Missense | 9/28 | - |
6-150039148-G-A | LATS1 | c.-304C>T | - | 5_prime_UTR_variant | 1/8 | - |
7-55154688-A-T | EGFR | c.89-55291A>T | - | IntronicSNV | - | 1/27 |
7-55154688-A-C | EGFR | c.89-55291A>C | - | IntronicSNV | - | 1/27 |
13-103388880-T-C | CCDC168 | c.14167A>G | p.Met4723Val | Missense | 4/4 | - |
8-38295542-G-A | FGFR1 | c.92-8076C>T | - | IntronicSNV | - | 2/17 |
14-73735366-C-T | PAPLN | c.3521C>T | p.Thr1174Met | Missense | 25/26 | - |
13-28962942-C-T | FLT1 | c.1969+991G>A | - | IntronicSNV | - | 13/29 |
10-90699679-G-A | ACTA2 | c.617-224C>T | - | IntronicSNV | - | 6/8 |
17-64659547-C-T | PRKCA | c.529+17918C>T | - | IntronicSNV | - | 5/16 |
1-3677933-T-C | CCDC27 | c.800T>C | p.Met267Thr | Missense | 5/12 | - |
5-126158200-A-T | LMNB1 | c.1387-273A>T | - | IntronicSNV | - | 7/10 |
5-126158200-A-G | LMNB1 | c.1387-273A>G | - | IntronicSNV | - | 7/10 |
4-103802242-T-C | CISD2 | c.104-4131T>C | - | IntronicSNV | - | 1/2 |
8-10128539-A-G | MSRA | c.331+25806A>G | - | IntronicSNV | - | 3/5 |
3-119609160-T-C | GSK3B | c.814-13805A>G | - | IntronicSNV | - | 7/10 |
3-189563530-A-G | TP63 | c.580-18491A>G | - | IntronicSNV | - | 4/13 |
20-56182296-A-C | ZBP1 | c.1094-2471T>G | - | IntronicSNV | - | 7/7 |
3-189563530-A-T | TP63 | c.580-18491A>T | - | IntronicSNV | - | 4/13 |
2-128079806-A-G | MAP3K2 | c.861T>C | p.Ala287Ala | Synonymous | 11/16 | - |
10-22675857-A-G | SPAG6 | c.572A>G | p.Gln191Arg | Missense | 8/14 | - |
19-11447886-C-T | RAB3D | c.190G>A | p.Val64Ile | Missense | 2/5 | - |
6-114269542-C-G | HDAC2 | c.841+601G>C | - | IntronicSNV | - | 8/13 |
8-30492116-C-G | GTF2E2 | c.258+433G>C | - | IntronicSNV | - | 3/7 |
5-60216584-C-T | ERCC8 | c.275+1297G>A | - | IntronicSNV | - | 3/11 |
6-35960390-C-T | SLC26A8 | c.689G>A | p.Ser230Asn | Missense | 6/20 | - |
5-149481322-A-T | CSF1R | c.-181+11502T>A | - | intron_variant | - | 1/21 |
13-28938934-T-G | FLT1 | c.2117-7112A>C | - | IntronicSNV | - | 14/29 |
8-9983369-C-T | MSRA | c.142+71201C>T | - | IntronicSNV | - | 1/5 |
8-9983369-C-A | MSRA | c.142+71201C>A | - | IntronicSNV | - | 1/5 |
10-90674968-T-G | STAMBPL1 | c.903+553T>G | - | IntronicSNV | - | 7/10 |
10-90674968-T-A | STAMBPL1 | c.903+553T>A | - | IntronicSNV | - | 7/10 |
19-3966132-C-G | DAPK3 | c.63-1143G>C | - | IntronicSNV | - | 2/8 |
7-116148370-T-C | CAV2 | c.*2195T>C | - | 3-UTRSNV | 3/3 | - |
7-116148370-T-G | CAV2 | c.*2195T>G | - | 3-UTRSNV | 3/3 | - |
8-32559943-G-A | NRG1 | c.389-25524G>A | - | IntronicSNV | - | 4/11 |
15-99230263-G-A | IGF1R | c.95-20528G>A | - | IntronicSNV | - | 1/20 |
15-99230263-G-T | IGF1R | c.95-20528G>T | - | IntronicSNV | - | 1/20 |
2-170158988-G-C | LRP2 | c.427+4803C>G | - | IntronicSNV | - | 4/78 |
8-27520801-G-A | SCARA3 | c.1369+3745G>A | - | IntronicSNV | - | 5/5 |
8-10249268-T-A | MSRA | c.544-36390T>A | - | IntronicSNV | - | 5/5 |
17-61903445-G-C | FTSJ3 | c.271C>G | p.Gln91Glu | Missense | 5/21 | - |
1-154919080-C-T | PBXIP1 | c.1070G>A | p.Gly357Asp | Missense | 10/11 | - |
13-103384824-G-A | CCDC168 | c.18223C>T | p.Arg6075Cys | Missense | 4/4 | - |
4-174242277-T-C | GALNT7 | c.1837-454T>C | - | IntronicSNV | - | 11/11 |
15-91326099-C-T | BLM | c.2603C>T | p.Pro868Leu | Missense | 13/22 | - |
10-89657150-C-A | PTEN | c.164+3284C>A | - | IntronicSNV | - | 2/8 |
4-23880985-T-C | PPARGC1A | c.234+5390A>G | - | IntronicSNV | - | 2/12 |
2-170010985-T-A | LRP2 | c.12280A>T | p.Lys4094* | Nonsense | 66/79 | - |
15-99404021-C-A | IGF1R | c.641-30533C>A | - | IntronicSNV | - | 2/20 |
10-89657150-C-T | PTEN | c.164+3284C>T | - | IntronicSNV | - | 2/8 |
3-189454251-C-T | TP63 | c.63-1278C>T | - | IntronicSNV | - | 1/13 |
8-32453358-G-A | NRG1 | c.50G>A | p.Arg17Gln | Missense | 2/12 | - |
2-170003432-T-G | LRP2 | c.12628A>C | p.Ile4210Leu | Missense | 69/79 | - |
19-13585804-T-G | CACNA1A | c.294-19778A>C | - | IntronicSNV | - | 1/47 |
19-1075979-A-G | ARHGAP45 | c.1233+1101A>G | - | IntronicSNV | - | 10/22 |
19-1075979-A-T | ARHGAP45 | c.1233+1101A>T | - | IntronicSNV | - | 10/22 |
3-25617403-C-T | RARB | c.610-4634C>T | - | IntronicSNV | - | 4/7 |
20-56098733-T-A | CTCFL | c.529A>T | p.Thr177Ser | Missense | 3/12 | - |
4-186111639-T-C | CFAP97 | c.712A>G | p.Thr238Ala | Missense | 2/5 | - |
8-27204598-A-G | PTK2B | c.-38+21400A>G | - | intron_variant | - | 2/31 |
2-170093296-A-G | LRP2 | c.4691+317T>C | - | IntronicSNV | - | 28/78 |
16-56969148-G-A | HERPUD1 | c.149G>A | p.Arg50His | Missense | 2/8 | - |
8-27306159-G-A | PTK2B | c.2341-2107G>A | - | IntronicSNV | - | 25/31 |
14-20898308-C-T | KLHL33 | c.527G>A | p.Arg176Gln | Missense | 2/4 | - |
17-1754380-A-T | RPA1 | c.273-2015A>T | - | IntronicSNV | - | 4/16 |
12-971291-C-T | WNK1 | c.1994C>T | p.Thr665Ile | Missense | 8/28 | - |
8-10082746-G-A | MSRA | c.211+17335G>A | - | IntronicSNV | - | 2/5 |
3-119520125-T-A | NR1I2 | c.1-5973T>A | - | IntronicSNV | - | 1/8 |
3-189572668-G-A | TP63 | c.580-9353G>A | - | IntronicSNV | - | 4/13 |
3-119520125-T-G | NR1I2 | c.1-5973T>G | - | IntronicSNV | - | 1/8 |
5-140952546-G-C | DIAPH1 | c.2358+513C>G | - | IntronicSNV | - | 16/27 |
3-178968634-C-T | KCNMB3 | c.151G>A | p.Ala51Thr | Missense | 2/4 | - |
19-49438363-G-A | DHDH | c.197G>A | p.Ser66Asn | Missense | 2/7 | - |
6-170862300-G-C | PSMB1 | c.31C>G | p.Pro11Ala | Missense | 1/6 | - |
17-38632761-C-A | TNS4 | c.*1079G>T | - | 3-UTRSNV | 13/13 | - |
17-38632761-C-G | TNS4 | c.*1079G>C | - | 3-UTRSNV | 13/13 | - |
6-8081021-G-A | EEF1E1 | c.385-758C>T | - | IntronicSNV | - | 3/3 |
9-22003223-C-T | CDKN2B | c.*2763G>A | - | 3-UTRSNV | 2/2 | - |
17-41244936-G-A | BRCA1 | c.2612C>T | p.Pro871Leu | Missense | 10/23 | - |
17-41244936-G-C | BRCA1 | c.2612C>G | p.Pro871Arg | Missense | 10/23 | - |
13-29016715-G-A | FLT1 | c.389-4233C>T | - | IntronicSNV | - | 3/29 |
8-48710957-A-G | PRKDC | c.10298T>C | p.Leu3433Ser | Missense | 74/86 | - |
6-88862559-C-T | CNR1 | c.-206-5034G>A | - | intron_variant | - | 1/2 |
19-1638919-C-T | TCF3 | c.146-6515G>A | - | IntronicSNV | - | 3/18 |
16-19127347-C-T | ITPRIPL2 | c.1564C>T | p.Pro522Ser | Missense | 1/1 | - |
2-135142222-A-G | MGAT5 | c.1381-18337A>G | - | IntronicSNV | - | 10/15 |
17-41244936-G-T | BRCA1 | c.2612C>A | p.Pro871Gln | Missense | 10/23 | - |
3-142357223-G-T | PLS1 | c.-37+14819G>T | - | intron_variant | - | 1/15 |
3-142357223-G-A | PLS1 | c.-37+14819G>A | - | intron_variant | - | 1/15 |
4-103557077-G-A | MANBA | c.2102C>T | p.Thr701Met | Missense | 15/17 | - |
3-142357223-G-C | PLS1 | c.-37+14819G>C | - | intron_variant | - | 1/15 |
3-178877977-G-A | PIK3CA | c.-77+11586G>A | - | intron_variant | - | 1/20 |
4-103557077-G-C | MANBA | c.2102C>G | p.Thr701Arg | Missense | 15/17 | - |
2-56119510-A-T | EFEMP1 | c.518-10641T>A | - | IntronicSNV | - | 5/11 |
12-1036042-C-G | RAD52 | c.467+269G>C | - | IntronicSNV | - | 6/11 |
13-32976608-A-G | N4BP2L1 | c.*471T>C | - | 3-UTRSNV | 5/5 | - |
13-103346659-G-A | METTL21C | c.130+60C>T | - | IntronicSNV | - | 1/3 |
6-31604044-T-G | PRRC2A | c.5683T>G | p.Leu1895Val | Missense | 26/31 | - |
10-89673569-C-T | PTEN | c.165-11701C>T | - | IntronicSNV | - | 2/8 |
11-221584-C-T | SIRT3 | c.543+2494G>A | - | IntronicSNV | - | 5/6 |
4-41264549-C-A | UCHL1 | c.459+609C>A | - | IntronicSNV | - | 6/8 |
4-41264549-C-T | UCHL1 | c.459+609C>T | - | IntronicSNV | - | 6/8 |
1-154997674-T-A | DCST2 | c.1612-596A>T | - | IntronicSNV | - | 10/14 |
8-27264952-G-A | PTK2B | c.204+9647G>A | - | IntronicSNV | - | 3/31 |
10-88741850-A-G | AGAP11 | c.-1029-1047A>G | - | intron_variant | - | 1/11 |
19-3968605-T-C | DAPK3 | c.62+1067A>G | - | IntronicSNV | - | 2/8 |
19-3968605-T-G | DAPK3 | c.62+1067A>C | - | IntronicSNV | - | 2/8 |
5-35871190-G-A | IL7R | c.412G>A | p.Val138Ile | Missense | 4/8 | - |
22-46656479-A-G | PKDREJ | c.2741T>C | p.Leu914Pro | Missense | 1/1 | - |
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 | - |
14-20924167-G-C | APEX1 | c.153G>C | p.Gln51His | Missense | 3/5 | - |
19-4180836-C-T | SIRT6 | c.137G>A | p.Ser46Asn | Missense | 2/7 | - |
8-10064495-C-G | MSRA | c.143-848C>G | - | IntronicSNV | - | 1/5 |
3-169518455-T-C | LRRC34 | c.657+3386A>G | - | IntronicSNV | - | 6/9 |
21-35233517-G-A | ITSN1 | c.3890+2421G>A | - | IntronicSNV | - | 31/39 |
3-53272314-T-G | TKT | c.437+1953A>C | - | IntronicSNV | - | 4/13 |
8-31695632-C-T | NRG1 | c.37+198685C>T | - | IntronicSNV | - | 1/11 |
8-141943746-G-A | PTK2 | c.35-42878C>T | - | IntronicSNV | - | 2/31 |
5-42666898-G-A | GHR | c.137-22094G>A | - | IntronicSNV | - | 3/9 |
19-39994711-T-C | DLL3 | c.653T>C | p.Leu218Pro | Missense | 5/8 | - |
1-65873626-G-A | DNAJC6 | c.2492-698G>A | - | IntronicSNV | - | 16/18 |
10-50678717-T-C | ERCC6 | c.3289A>G | p.Met1097Val | Missense | 18/21 | - |
22-37581422-G-T | C1QTNF6 | c.125C>A | p.Pro42His | Missense | 2/4 | - |
8-32624857-C-A | NRG1 | c.*2937C>A | - | IntergenicSNV | 12/12 | - |
14-73657180-C-A | PSEN1 | c.549-2172C>A | - | IntronicSNV | - | 6/11 |
14-73657180-C-T | PSEN1 | c.549-2172C>T | - | IntronicSNV | - | 6/11 |
16-57059484-C-T | NLRC5 | c.629C>T | p.Ser210Leu | Missense | 5/48 | - |
4-110967788-T-G | ELOVL6 | c.*4706A>C | - | IntergenicSNV | 4/4 | - |
8-48885436-T-A | MCM4 | c.1948T>A | p.Leu650Met | Missense | 13/16 | - |
13-103388370-C-T | CCDC168 | c.14677G>A | p.Gly4893Ser | Missense | 4/4 | - |
1-3682070-C-A | CCDC27 | c.1453-1029C>A | - | IntronicSNV | - | 8/11 |
8-32624857-C-T | NRG1 | c.*2937C>T | - | IntergenicSNV | 12/12 | - |
6-52850155-G-C | GSTA4 | c.272+94C>G | - | IntronicSNV | - | 4/6 |
1-156011444-T-C | UBQLN4 | c.1485A>G | p.Ile495Met | Missense | 10/11 | - |
19-4180836-C-G | SIRT6 | c.137G>C | p.Ser46Thr | Missense | 2/7 | - |
7-143017807-G-T | CLCN1 | c.352G>T | p.Gly118Trp | Missense | 3/23 | - |
6-35969270-T-C | SLC26A8 | c.329-1385A>G | - | IntronicSNV | - | 3/19 |
19-49313000-T-C | BCAT2 | c.24+1241A>G | - | IntronicSNV | - | 1/8 |
16-14029033-G-A | ERCC4 | c.1244G>A | p.Arg415Gln | Missense | 8/11 | - |
4-141483471-T-A | UCP1 | c.685A>T | p.Met229Leu | Missense | 5/6 | - |
15-43658935-C-T | ZSCAN29 | c.595G>A | p.Gly199Ser | Missense | 3/5 | - |
2-170211377-G-A | LRP2 | c.79+7454C>T | - | IntronicSNV | - | 1/78 |
6-152166801-C-A | ESR1 | c.643+2879C>A | - | IntronicSNV | - | 2/7 |
8-141622537-C-T | AGO2 | c.22+23047G>A | - | IntronicSNV | - | 1/18 |
7-94946084-A-G | PON1 | c.163T>C | p.Leu55Leu | Synonymous | 3/9 | - |
7-94946084-A-T | PON1 | c.163T>A | p.Leu55Met | Missense | 3/9 | - |
1-115867271-G-A | NGF | c.-137+13554C>T | - | intron_variant | - | 1/2 |
3-53138254-T-C | RFT1 | c.958-141A>G | - | IntronicSNV | - | 9/12 |
19-7184801-C-T | INSR | c.653-153G>A | - | IntronicSNV | - | 2/21 |
3-53138254-T-A | RFT1 | c.958-141A>T | - | IntronicSNV | - | 9/12 |
8-32116394-C-T | NRG1 | c.38-336952C>T | - | IntronicSNV | - | 1/11 |
12-53867312-G-A | PCBP2 | c.1064+1721G>A | - | IntronicSNV | - | 14/14 |
19-13481788-C-T | CACNA1A | c.631+714G>A | - | IntronicSNV | - | 4/47 |
6-53401903-C-T | GCLC | c.150+7391G>A | - | IntronicSNV | - | 1/14 |
8-32116394-C-G | NRG1 | c.38-336952C>G | - | IntronicSNV | - | 1/11 |
2-216956929-C-A | TMEM169 | c.1-3758C>A | - | IntronicSNV | - | 1/2 |
11-116745484-C-T | SIK3 | c.1427+390G>A | - | intron_variant | - | 11/23 |
11-67353579-C-T | GSTP1 | c.341C>T | p.Ala114Val | Missense | 6/7 | - |
12-4436632-A-G | TIGAR | c.33-3814A>G | - | IntronicSNV | - | 1/5 |
20-55983073-C-T | RBM38 | c.*470C>T | - | 3-UTRSNV | 3/3 | - |
17-44109474-G-A | KANSL1 | c.3029C>T | p.Pro1010Leu | Missense | 14/15 | - |
15-91326099-C-A | BLM | c.2603C>A | p.Pro868Gln | Missense | 13/22 | - |
15-91326099-C-G | BLM | c.2603C>G | p.Pro868Arg | Missense | 13/22 | - |
12-4463204-C-T | TIGAR | c.*1347C>T | - | 3-UTRSNV | 6/6 | - |
12-4463204-C-G | TIGAR | c.*1347C>G | - | 3-UTRSNV | 6/6 | - |
16-1376892-C-G | UBE2I | c.*2098C>G | - | 3-UTRSNV | 7/7 | - |
16-1376892-C-T | UBE2I | c.*2098C>T | - | 3-UTRSNV | 7/7 | - |
19-13564584-C-T | CACNA1A | c.400-755G>A | - | IntronicSNV | - | 2/47 |
9-119106881-C-A | PAPPA | c.3671C>A | p.Ser1224Tyr | Missense | 14/22 | - |
12-990912-A-C | WNK1 | c.3166A>C | p.Thr1056Pro | Missense | 13/28 | - |
13-41143190-G-A | FOXO1 | c.631-8193C>T | - | IntronicSNV | - | 1/2 |
5-149450132-T-C | CSF1R | c.1085A>G | p.His362Arg | Missense | 8/22 | - |
6-31601735-G-A | PRRC2A | c.4688G>A | p.Arg1563Gln | Missense | 18/31 | - |
7-94949537-T-C | PON1 | c.75-1832A>G | - | IntronicSNV | - | 1/8 |
10-49704689-G-A | ARHGAP22 | c.323-16882C>T | - | IntronicSNV | - | 3/9 |
6-108916573-T-C | FOXO3 | c.621+33541T>C | - | IntronicSNV | - | 1/2 |
5-35910529-C-T | CAPSL | c.254G>A | p.Arg85Gln | Missense | 3/5 | - |
17-64727722-C-G | PRKCA | c.919-1084C>G | - | IntronicSNV | - | 8/16 |
22-24179132-G-A | SMARCB1 | c.*2765G>A | - | IntergenicSNV | 9/9 | - |
22-46656246-T-A | PKDREJ | c.2974A>T | p.Thr992Ser | Missense | 1/1 | - |
3-123019763-T-C | ADCY5 | c.2725-621A>G | - | IntronicSNV | - | 14/20 |
8-10211788-C-T | MSRA | c.543+34289C>T | - | IntronicSNV | - | 5/5 |
3-119520125-T-C | NR1I2 | c.1-5973T>C | - | IntronicSNV | - | 1/8 |
15-99361263-T-C | IGF1R | c.641-73291T>C | - | IntronicSNV | - | 2/20 |
2-170143192-G-A | LRP2 | c.1042+2344C>T | - | IntronicSNV | - | 9/78 |
6-88856397-T-C | CNR1 | c.1-1404A>G | - | IntronicSNV | - | 1/2 |
10-90699679-G-T | ACTA2 | c.617-224C>A | - | IntronicSNV | - | 6/8 |
3-37053568-A-C | MLH1 | c.655A>C | p.Ile219Leu | Missense | 8/19 | - |
3-37053568-A-G | MLH1 | c.655A>G | p.Ile219Val | Missense | 8/19 | - |
19-49246866-A-G | IZUMO1 | c.419-84T>C | - | IntronicSNV | - | 5/9 |
20-56190634-C-T | ZBP1 | c.262G>A | p.Glu88Lys | Missense | 3/8 | - |
13-103388015-C-T | CCDC168 | c.15032G>A | p.Gly5011Glu | Missense | 4/4 | - |
8-10120297-T-C | MSRA | c.331+17564T>C | - | IntronicSNV | - | 3/5 |
3-25608576-C-G | RARB | c.449-2673C>G | - | IntronicSNV | - | 3/7 |
3-37053568-A-T | MLH1 | c.655A>T | p.Ile219Phe | Missense | 8/19 | - |
7-55181361-G-A | EGFR | c.89-28618G>A | - | IntronicSNV | - | 1/27 |
3-25603432-T-G | RARB | c.449-7817T>G | - | IntronicSNV | - | 3/7 |
19-18351674-A-G | PDE4C | c.-210+7307T>C | - | intron_variant | - | 1/15 |
2-170138506-T-C | LRP2 | c.1171+877A>G | - | IntronicSNV | - | 10/78 |
2-170138506-T-A | LRP2 | c.1171+877A>T | - | IntronicSNV | - | 10/78 |
17-1859542-C-T | RTN4RL1 | c.14-18440G>A | - | IntronicSNV | - | 1/1 |
11-233067-C-T | SIRT3 | c.196G>A | p.Val66Ile | Missense | 3/7 | - |
22-46553021-A-G | PPARA | c.-43+5148A>G | - | intron_variant | - | 2/7 |
2-216236712-T-A | FN1 | c.6091A>T | p.Ile2031Phe | Missense | 38/44 | - |
8-27156502-T-C | TRIM35 | c.436-426A>G | - | IntronicSNV | - | 1/5 |
22-41549297-A-T | EP300 | c.3142+943A>T | - | IntronicSNV | - | 16/30 |
8-31743058-T-G | NRG1 | c.37+246111T>G | - | IntronicSNV | - | 1/11 |
22-41549297-A-G | EP300 | c.3142+943A>G | - | IntronicSNV | - | 16/30 |
8-27398432-T-C | EPHX2 | c.1379+259T>C | - | IntronicSNV | - | 15/18 |
9-119027076-T-C | PAPPA | c.2733-1060T>C | - | IntronicSNV | - | 7/21 |
6-52849325-C-T | GSTA4 | c.351G>A | p.Gln117Gln | Synonymous | 5/7 | - |
8-10079637-A-G | MSRA | c.211+14226A>G | - | IntronicSNV | - | 2/5 |
5-141034245-A-C | ARAP3 | c.4150-243T>G | - | IntronicSNV | - | 32/32 |
21-35228055-A-G | ITSN1 | c.3662-985A>G | - | IntronicSNV | - | 29/39 |
15-41069999-C-T | DNAJC17 | c.296-1174G>A | - | IntronicSNV | - | 4/10 |
8-48739305-G-A | PRKDC | c.8692C>T | - | missense_variant | 64/86 | - |
14-73634466-T-G | PSEN1 | c.88-3039T>G | - | IntronicSNV | - | 3/11 |
2-216236712-T-C | FN1 | c.6091A>G | p.Ile2031Val | Missense | 38/44 | - |
22-22277571-A-C | PPM1F | c.1259T>G | p.Leu420Arg | Missense | 8/8 | - |
22-37632180-G-T | RAC2 | c.108-3222C>A | - | IntronicSNV | - | 2/6 |
22-37632180-G-A | RAC2 | c.108-3222C>T | - | IntronicSNV | - | 2/6 |
19-7183551-C-T | INSR | c.974+776G>A | - | IntronicSNV | - | 3/21 |
1-40759064-C-T | ZMPSTE24 | c.*723C>T | - | 3-UTRSNV | 10/10 | - |
14-73662629-C-T | PSEN1 | c.770-2110C>T | - | IntronicSNV | - | 7/11 |
6-137160506-A-G | PEX7 | c.340-6247A>G | - | IntronicSNV | - | 3/9 |
18-60972718-G-A | BCL2 | c.585+12597C>T | - | IntronicSNV | - | 2/2 |
17-1703982-C-T | SMYD4 | c.706G>A | p.Gly236Ser | Missense | 5/11 | - |
3-119523746-A-T | NR1I2 | c.1-2352A>T | - | IntronicSNV | - | 1/8 |
17-38632761-C-T | TNS4 | c.*1079G>A | - | 3-UTRSNV | 13/13 | - |
14-73712303-T-C | PAPLN | c.171-41T>C | - | IntronicSNV | - | 3/25 |
14-73712303-T-G | PAPLN | c.171-41T>G | - | IntronicSNV | - | 3/25 |
8-10090097-C-G | MSRA | c.212-12517C>G | - | IntronicSNV | - | 2/5 |
3-119523746-A-G | NR1I2 | c.1-2352A>G | - | IntronicSNV | - | 1/8 |
1-226491656-G-A | LIN9 | c.80-2750C>T | - | IntronicSNV | - | 1/14 |
13-33628193-G-C | KL | c.1109G>C | p.Cys370Ser | Missense | 2/5 | - |
17-1783812-T-C | RPA1 | c.1093-25T>C | - | IntronicSNV | - | 11/16 |
3-189400282-T-C | TP63 | c.62+50916T>C | - | IntronicSNV | - | 1/13 |
2-170143192-G-C | LRP2 | c.1042+2344C>G | - | IntronicSNV | - | 9/78 |
8-31743058-T-A | NRG1 | c.37+246111T>A | - | IntronicSNV | - | 1/11 |
7-2227707-T-C | MAD1L1 | c.986+25140A>G | - | IntronicSNV | - | 10/18 |
3-12468589-C-G | PPARG | c.1187-6808C>G | - | IntronicSNV | - | 6/6 |
8-10236815-A-G | MSRA | c.544-48843A>G | - | IntronicSNV | - | 5/5 |
17-64576674-C-G | PRKCA | c.289-60799C>G | - | IntronicSNV | - | 3/16 |
13-103385534-C-T | CCDC168 | c.17513G>A | p.Arg5838Gln | Missense | 4/4 | - |
8-38269514-T-C | FGFR1 | c.*1632A>G | - | 3-UTRSNV | 18/18 | - |
5-68616331-C-T | CCDC125 | c.37G>A | p.Val13Met | Missense | 2/12 | - |
10-90759613-A-G | FAS | c.31-3173A>G | - | IntronicSNV | - | 1/8 |
12-124799387-G-T | RFLNA | c.*316G>T | - | 3-UTRSNV | 3/3 | - |
12-124799387-G-A | RFLNA | c.*316G>A | - | 3-UTRSNV | 3/3 | - |
16-57014875-A-G | CETP | c.1147-195A>G | - | IntronicSNV | - | 11/15 |
16-57014875-A-C | CETP | c.1147-195A>C | - | IntronicSNV | - | 11/15 |
4-23875559-G-C | PPARGC1A | c.234+10816C>G | - | IntronicSNV | - | 2/12 |
4-23875559-G-A | PPARGC1A | c.234+10816C>T | - | IntronicSNV | - | 2/12 |
3-119746633-G-A | GSK3B | c.89-25547C>T | - | IntronicSNV | - | 1/10 |
4-3137674-G-A | HTT | c.2683G>A | - | missense_variant | 20/67 | - |
16-19033992-A-C | TMC7 | c.629-443A>C | - | IntronicSNV | - | 4/15 |
2-203056987-A-G | KIAA2012 | c.2812-1037A>G | - | intron_variant | - | 19/23 |
2-170203860-T-C | LRP2 | c.79+14971A>G | - | IntronicSNV | - | 1/78 |
13-33628193-G-T | KL | c.1109G>T | p.Cys370Phe | Missense | 2/5 | - |
13-32886574-C-G | ZAR1L | c.1-512G>C | - | IntergenicSNV | - | 2/5 |
10-49682402-C-T | ARHGAP22 | c.451+5277G>A | - | IntronicSNV | - | 4/9 |
16-3747042-G-T | TRAP1 | c.89-6056C>A | - | IntronicSNV | - | 1/17 |
8-10273426-A-G | MSRA | c.544-12232A>G | - | IntronicSNV | - | 5/5 |
3-189400596-C-T | TP63 | c.62+51230C>T | - | IntronicSNV | - | 1/13 |
4-23883796-A-G | PPARGC1A | c.234+2579T>C | - | IntronicSNV | - | 2/12 |
17-64541712-C-T | PRKCA | c.288+49311C>T | - | IntronicSNV | - | 3/16 |
17-7592780-G-A | WRAP53 | c.531-128G>A | - | IntronicSNV | - | 2/9 |
6-43742527-G-A | VEGFA | c.658+398G>A | - | IntronicSNV | - | 2/7 |
5-141025929-A-G | FCHSD1 | c.1045-171T>C | - | IntronicSNV | - | 11/19 |
2-216190020-C-G | ATIC | c.347C>G | p.Thr116Ser | Missense | 5/16 | - |
6-31525912-C-T | NFKBIL1 | c.670C>T | p.Arg224Cys | Missense | 4/4 | - |
14-20916249-T-A | OSGEP | c.702+16A>T | - | IntronicSNV | - | 7/10 |
1-94342564-C-A | DNTTIP2 | c.927G>T | p.Glu309Asp | Missense | 2/7 | - |
7-55187138-G-A | EGFR | c.89-22841G>A | - | IntronicSNV | - | 1/27 |
12-1036042-C-T | RAD52 | c.467+269G>A | - | IntronicSNV | - | 6/11 |
3-189552161-A-G | TP63 | c.579+25846A>G | - | IntronicSNV | - | 4/13 |
11-116728630-G-A | SIK3 | c.3407C>T | - | missense_variant | 20/24 | - |
21-27435525-C-A | APP | c.356-9861G>T | - | IntronicSNV | - | 3/17 |
21-27435525-C-T | APP | c.356-9861G>A | - | IntronicSNV | - | 3/17 |
15-74282343-C-T | STOML1 | c.240+349G>A | - | IntronicSNV | - | 2/6 |
8-32624828-A-G | NRG1 | c.*2908A>G | - | IntergenicSNV | 12/12 | - |
3-53260325-A-G | TKT | c.1697-378T>C | - | IntronicSNV | - | 13/13 |
7-122809234-T-C | SLC13A1 | c.521A>G | p.Asn174Ser | Missense | 4/15 | - |
19-3966132-C-T | DAPK3 | c.63-1143G>A | - | IntronicSNV | - | 2/8 |
11-116728630-G-T | SIK3 | c.3407C>A | - | missense_variant | 20/24 | - |
8-10170545-A-T | MSRA | c.437-6848A>T | - | IntronicSNV | - | 4/5 |
16-56948618-A-C | SLC12A3 | c.*1301A>C | - | 3-UTRSNV | 26/26 | - |
11-204062-T-C | BET1L | c.*1408A>G | - | 3-UTRSNV | 3/3 | - |
13-110419354-C-A | IRS2 | c.4013-10699G>T | - | IntronicSNV | - | 1/1 |
1-3615156-C-T | TP73 | c.187-8957C>T | - | IntronicSNV | - | 3/13 |
2-170010985-T-C | LRP2 | c.12280A>G | p.Lys4094Glu | Missense | 66/79 | - |
19-50957397-G-A | MYBPC2 | c.1870G>A | p.Val624Ile | Missense | 17/28 | - |
13-103513944-A-G | ERCC5 | c.760A>G | p.Met254Val | Missense | 7/15 | - |
4-122683007-G-A | TMEM155 | c.32C>T | p.Ala11Val | Missense | 4/6 | - |
22-46591752-A-G | PPARA | c.1-2529A>G | - | IntronicSNV | - | 2/7 |
6-152237618-G-T | ESR1 | c.761-27690G>T | - | IntronicSNV | - | 3/7 |
7-45957055-G-C | IGFBP3 | c.422-17C>G | - | IntronicSNV | - | 1/4 |
10-50684228-A-G | ERCC6 | c.2382+33T>C | - | IntronicSNV | - | 12/20 |
15-43661802-T-A | ZSCAN29 | c.310A>T | p.Arg104* | Nonsense | 1/5 | - |
5-141025929-A-T | FCHSD1 | c.1045-171T>A | - | IntronicSNV | - | 11/19 |
2-216279273-A-G | FN1 | c.1941+287T>C | - | IntronicSNV | - | 13/43 |
11-122986256-T-C | CLMP | c.29-17596A>G | - | IntronicSNV | - | 1/6 |
5-68576014-C-G | CCDC125 | c.*2542G>C | - | IntergenicSNV | 12/12 | - |
1-156100739-T-C | LMNA | c.513+175T>C | - | IntronicSNV | - | 2/11 |
3-178975408-T-C | KCNMB3 | c.63-6686A>G | - | IntronicSNV | - | 1/3 |
7-2275993-G-A | MRM2 | c.299-794C>T | - | IntronicSNV | - | 2/2 |
5-179267949-T-G | MRNIP | c.460A>C | p.Arg154Arg | Synonymous | 6/7 | - |
19-4119012-A-G | MAP2K2 | c.93-1385T>C | - | IntronicSNV | - | 1/10 |
9-71606315-G-A | PIP5K1B | c.1620+142G>A | - | IntronicSNV | - | 15/15 |
19-13557907-C-A | CACNA1A | c.539+5783G>T | - | IntronicSNV | - | 3/47 |
14-20925154-T-G | APEX1 | c.444T>G | p.Asp148Glu | Missense | 5/5 | - |
3-123019763-T-A | ADCY5 | c.2725-621A>T | - | IntronicSNV | - | 14/20 |
14-20925154-T-A | APEX1 | c.444T>A | p.Asp148Glu | Missense | 5/5 | - |
14-20925154-T-C | APEX1 | c.444T>C | p.Asp148Asp | Synonymous | 5/5 | - |
5-179267949-T-C | MRNIP | c.460A>G | p.Arg154Gly | Missense | 6/7 | - |
1-40705726-A-T | RLF | c.5352A>T | p.Glu1784Asp | Missense | 8/8 | - |
21-35236467-A-G | ITSN1 | c.3891-988A>G | - | IntronicSNV | - | 31/39 |
8-141625045-G-A | AGO2 | c.22+20539C>T | - | IntronicSNV | - | 1/18 |
8-32543230-C-T | NRG1 | c.389-42237C>T | - | IntronicSNV | - | 4/11 |
8-30962693-A-C | WRN | c.2088+4222A>C | - | IntronicSNV | - | 18/34 |
8-30962693-A-T | WRN | c.2088+4222A>T | - | IntronicSNV | - | 18/34 |
19-11465129-C-T | CCDC159 | c.773-127C>T | - | IntronicSNV | - | 9/10 |
9-118980049-A-T | PAPPA | c.1919-2167A>T | - | IntronicSNV | - | 4/21 |
12-57883801-G-A | MARS | c.490+47G>A | - | IntronicSNV | - | 5/20 |
17-44067400-T-C | MAPT | c.1339T>C | p.Ser447Pro | Missense | 8/14 | - |
7-73470714-G-C | ELN | c.1264G>C | p.Gly422Arg | Missense | 20/33 | - |
7-31015565-T-G | GHRHR | c.974+82T>G | - | IntronicSNV | - | 10/12 |
21-35271873-A-G | ITSN1 | c.*11269A>G | - | IntergenicSNV | 40/40 | - |
9-119022403-C-T | PAPPA | c.2733-5733C>T | - | IntronicSNV | - | 7/21 |
15-40477831-G-A | BUB1B | c.1046G>A | p.Arg349Gln | Missense | 8/23 | - |
12-57883801-G-T | MARS | c.490+47G>T | - | IntronicSNV | - | 5/20 |
1-115837057-A-T | NGF | c.-136-686T>A | - | intron_variant | - | 1/2 |
1-115837057-A-C | NGF | c.-136-686T>G | - | intron_variant | - | 1/2 |
5-142727193-G-A | NR3C1 | c.1185-33460C>T | - | IntronicSNV | - | 2/8 |
14-62196948-T-C | HIF1A | c.774-2188T>C | - | IntronicSNV | - | 6/14 |
7-31008686-G-A | GHRHR | c.169G>A | p.Ala57Thr | Missense | 3/13 | - |
19-13397560-C-T | CACNA1A | c.3322G>A | p.Gly1108Ser | Missense | 20/48 | - |
1-115829313-G-A | NGF | c.104C>T | p.Ala35Val | Missense | 3/3 | - |
2-74710491-C-T | TTC31 | c.83C>T | p.Ala28Val | Missense | 2/13 | - |
8-31572565-A-G | NRG1 | c.37+75618A>G | - | IntronicSNV | - | 1/11 |
2-216959230-G-A | TMEM169 | c.1-1457G>A | - | IntronicSNV | - | 1/2 |
13-103524762-C-T | ERCC5 | c.2879+14C>T | - | IntronicSNV | - | 13/14 |
22-37632770-T-G | RAC2 | c.108-3812A>C | - | IntronicSNV | - | 2/6 |
15-99286284-A-G | IGF1R | c.640+34948A>G | - | IntronicSNV | - | 2/20 |
4-110790911-A-G | LRIT3 | c.1006A>G | p.Met336Val | Missense | 4/4 | - |
4-110790911-A-T | LRIT3 | c.1006A>T | p.Met336Leu | Missense | 4/4 | - |
10-104140350-G-A | GBF1 | c.5068G>A | p.Gly1690Ser | Missense | 38/40 | - |
3-53272314-T-C | TKT | c.437+1953A>G | - | IntronicSNV | - | 4/13 |
16-3723248-C-A | TRAP1 | c.1045-427G>T | - | IntronicSNV | - | 9/17 |
17-62007498-A-G | CD79B | c.366T>C | p.Cys122Cys | Synonymous | 3/6 | - |
20-39749241-C-G | TOP1 | c.1951-1095C>G | - | IntronicSNV | - | 18/20 |
8-31023822-A-G | WRN | c.3983-716A>G | - | IntronicSNV | - | 33/34 |
6-152160756-A-G | ESR1 | c.453-2976A>G | - | IntronicSNV | - | 1/7 |
6-52885773-T-C | ICK | c.359-1616A>G | - | IntronicSNV | - | 6/14 |
7-116146074-C-G | CAV2 | c.388C>G | p.Gln130Glu | Missense | 3/3 | - |
5-1244425-C-T | SLC6A18 | c.1433C>T | p.Pro478Leu | Missense | 10/12 | - |
4-3215835-T-C | HTT | c.6931T>C | - | missense_variant | 50/67 | - |
13-103383417-T-C | CCDC168 | c.19630A>G | p.Lys6544Glu | Missense | 4/4 | - |
16-3723248-C-T | TRAP1 | c.1045-427G>A | - | IntronicSNV | - | 9/17 |
15-40991153-A-T | RAD51 | c.87+110A>T | - | IntronicSNV | - | 2/9 |
15-40991153-A-G | RAD51 | c.87+110A>G | - | IntronicSNV | - | 2/9 |
14-73724095-A-G | PAPLN | c.1547-1592A>G | - | IntronicSNV | - | 13/25 |
17-1801065-G-C | RPA1 | c.*596G>C | - | 3-UTRSNV | 17/17 | - |
3-189416987-C-T | TP63 | c.63-38542C>T | - | IntronicSNV | - | 1/13 |
17-43922640-G-A | SPPL2C | c.368G>A | p.Arg123Gln | Missense | 1/1 | - |
22-37581422-G-C | C1QTNF6 | c.125C>G | p.Pro42Arg | Missense | 2/4 | - |
6-31778272-G-C | HSPA1L | c.1478C>G | p.Thr493Arg | Missense | 2/2 | - |
8-79686236-C-G | IL7 | c.147+24071G>C | - | IntronicSNV | - | 2/5 |
8-79686236-C-T | IL7 | c.147+24071G>A | - | IntronicSNV | - | 2/5 |
22-38658577-G-C | TMEM184B | c.-59+10313C>G | - | intron_variant | - | 1/8 |
22-29100889-C-A | CHEK2 | c.976-1335G>T | - | IntronicSNV | - | 8/15 |
17-64656491-A-T | PRKCA | c.529+14862A>T | - | IntronicSNV | - | 5/16 |
7-143043240-C-T | CLCN1 | c.2180C>T | p.Pro727Leu | Missense | 18/23 | - |
3-25625821-G-A | RARB | c.786+3608G>A | - | IntronicSNV | - | 5/7 |
1-115837709-A-G | NGF | c.-136-1338T>C | - | intron_variant | - | 1/2 |
5-141026812-A-C | FCHSD1 | c.829-15T>G | - | IntronicSNV | - | 9/19 |
7-94898811-G-C | PPP1R9A | c.3116G>C | p.Arg1039Pro | Missense | 14/20 | - |
6-152288241-T-G | ESR1 | c.1096+22598T>G | - | IntronicSNV | - | 4/7 |
6-31778077-T-G | HSPA1L | c.1673A>C | p.Glu558Ala | Missense | 2/2 | - |
6-31729925-C-T | MSH5 | c.2356C>T | p.Pro786Ser | Missense | 24/25 | - |
11-13379788-T-C | ARNTL | c.222-193T>C | - | IntronicSNV | - | 7/19 |
15-40949526-C-T | KNL1 | c.6595-27C>T | - | IntronicSNV | - | 23/25 |
5-142604421-A-G | ARHGAP26 | c.*2410A>G | - | 3-UTRSNV | 23/23 | - |
19-13557907-C-G | CACNA1A | c.539+5783G>C | - | IntronicSNV | - | 3/47 |
15-99301535-G-T | IGF1R | c.640+50199G>T | - | IntronicSNV | - | 2/20 |
15-99301535-G-A | IGF1R | c.640+50199G>A | - | IntronicSNV | - | 2/20 |
4-23869454-C-T | PPARGC1A | c.234+16921G>A | - | IntronicSNV | - | 2/12 |
22-37632770-T-A | RAC2 | c.108-3812A>T | - | IntronicSNV | - | 2/6 |
6-8038149-A-G | BLOC1S5 | c.325+3223T>C | - | IntronicSNV | - | 3/4 |
8-10173455-C-T | MSRA | c.437-3938C>T | - | IntronicSNV | - | 4/5 |
6-8038149-A-C | BLOC1S5 | c.325+3223T>G | - | IntronicSNV | - | 3/4 |
20-56137895-G-C | PCK1 | c.550G>C | p.Val184Leu | Missense | 4/10 | - |
20-56137895-G-T | PCK1 | c.550G>T | p.Val184Leu | Missense | 4/10 | - |
6-31501212-A-T | DDX39B | c.736-524T>A | - | IntronicSNV | - | 6/10 |
15-99283918-G-A | IGF1R | c.640+32582G>A | - | IntronicSNV | - | 2/20 |
19-41903220-G-A | EXOSC5 | c.14C>T | p.Thr5Met | Missense | 1/6 | - |
17-61901197-T-A | FTSJ3 | c.1270A>T | p.Ser424Cys | Missense | 13/21 | - |
6-53385475-C-G | GCLC | c.446+101G>C | - | IntronicSNV | - | 3/14 |
6-53385475-C-T | GCLC | c.446+101G>A | - | IntronicSNV | - | 3/14 |
6-31839309-C-T | SLC44A4 | c.433G>A | p.Val145Ile | Missense | 7/20 | - |
12-124868410-G-A | NCOR2 | c.2019+1881C>T | - | IntronicSNV | - | 19/48 |
13-103384712-G-A | CCDC168 | c.18335C>T | p.Thr6112Met | Missense | 4/4 | - |
16-57051154-G-A | NLRC5 | c.-13+54G>A | - | intron_variant | - | 1/47 |
19-41903220-G-C | EXOSC5 | c.14C>G | p.Thr5Arg | Missense | 1/6 | - |
21-35233517-G-C | ITSN1 | c.3890+2421G>C | - | IntronicSNV | - | 31/39 |
19-7134402-T-G | INSR | c.2683-2074A>C | - | IntronicSNV | - | 13/21 |
14-20900255-T-C | KLHL33 | c.1-1421A>G | - | IntronicSNV | - | 1/3 |
2-217543728-G-C | IGFBP5 | c.412C>G | p.Arg138Gly | Missense | 2/4 | - |
7-2316852-C-T | SNX8 | c.300+883G>A | - | IntronicSNV | - | 2/10 |
19-7078321-G-T | ZNF557 | c.247+1803G>T | - | IntronicSNV | - | 5/7 |
7-2316852-C-G | SNX8 | c.300+883G>C | - | IntronicSNV | - | 2/10 |
15-91355732-T-A | BLM | c.4076+1096T>A | - | IntronicSNV | - | 21/21 |
15-91355732-T-C | BLM | c.4076+1096T>C | - | IntronicSNV | - | 21/21 |
1-3561008-C-T | WRAP73 | c.339+2222G>A | - | IntronicSNV | - | 3/11 |
3-169514585-A-T | LRRC34 | c.760T>A | p.Leu254Ile | Missense | 7/10 | - |
19-11510314-A-G | RGL3 | c.1764+217T>C | - | IntronicSNV | - | 16/18 |
6-35967772-T-C | SLC26A8 | c.442A>G | p.Ile148Val | Missense | 4/20 | - |
17-64568980-T-C | PRKCA | c.289-68493T>C | - | IntronicSNV | - | 3/16 |
8-32180322-G-C | NRG1 | c.38-273024G>C | - | IntronicSNV | - | 1/11 |
19-13384131-T-G | CACNA1A | c.4001+2533A>C | - | IntronicSNV | - | 24/47 |
12-7290200-T-G | CLSTN3 | c.1211-351T>G | - | IntronicSNV | - | 7/17 |
19-49321007-A-C | HSD17B14 | c.370-2609T>G | - | IntronicSNV | - | 5/8 |
1-40700025-C-T | RLF | c.1090-1439C>T | - | IntronicSNV | - | 7/7 |
16-19033992-A-T | TMC7 | c.629-443A>T | - | IntronicSNV | - | 4/15 |
8-31005142-C-T | WRN | c.3572+150C>T | - | IntronicSNV | - | 30/34 |
11-108143456-C-A | ATM | c.3161C>A | p.Pro1054His | Missense | 22/63 | - |
11-108143456-C-G | ATM | c.3161C>G | p.Pro1054Arg | Missense | 22/63 | - |
8-31630514-T-A | NRG1 | c.37+133567T>A | - | IntronicSNV | - | 1/11 |
1-65890699-T-A | LEPR | c.-96-287T>A | - | intron_variant | - | 1/19 |
8-32259085-T-A | NRG1 | c.38-194261T>A | - | IntronicSNV | - | 1/11 |
17-64605504-G-A | PRKCA | c.289-31969G>A | - | IntronicSNV | - | 3/16 |
22-46557161-G-A | PPARA | c.-43+9288G>A | - | intron_variant | - | 2/7 |
17-1761446-G-A | RPA1 | c.361+4963G>A | - | IntronicSNV | - | 5/16 |
11-108043988-C-T | NPAT | c.1723G>A | p.Val575Ile | Missense | 13/18 | - |
17-64537059-A-G | PRKCA | c.288+44658A>G | - | IntronicSNV | - | 3/16 |
7-55142654-A-G | EGFR | c.88+55596A>G | - | IntronicSNV | - | 1/27 |
3-169518455-T-G | LRRC34 | c.657+3386A>C | - | IntronicSNV | - | 6/9 |
10-49682402-C-G | ARHGAP22 | c.451+5277G>C | - | IntronicSNV | - | 4/9 |
8-10113743-C-T | MSRA | c.331+11010C>T | - | IntronicSNV | - | 3/5 |
4-110883121-G-A | EGF | c.1292G>A | p.Arg431Lys | Missense | 8/23 | - |
17-42475962-A-C | GPATCH8 | c.3483T>G | p.Cys1161Trp | Missense | 8/8 | - |
6-31750509-G-A | VARS | c.1876C>T | p.Pro626Ser | Missense | 15/30 | - |
22-41564287-T-C | EP300 | c.3875-166T>C | - | IntronicSNV | - | 23/30 |
22-22288560-G-A | PPM1F | c.394C>T | p.Arg132Cys | Missense | 4/8 | - |
8-10113743-C-G | MSRA | c.331+11010C>G | - | IntronicSNV | - | 3/5 |
19-1058176-A-G | ABCA7 | c.5057A>G | p.Gln1686Arg | Missense | 37/47 | - |
10-90752128-A-T | FAS | c.30+1465A>T | - | IntronicSNV | - | 1/8 |
13-28909870-A-T | FLT1 | c.2489-1604T>A | - | IntronicSNV | - | 17/29 |
8-32397901-A-G | NRG1 | c.38-55445A>G | - | IntronicSNV | - | 1/11 |
22-46562183-T-C | PPARA | c.-43+14310T>C | - | intron_variant | - | 2/7 |
8-30938704-G-A | WRN | c.1161G>A | p.Met387Ile | Missense | 9/35 | - |
11-61615803-C-T | FADS2 | c.744+47C>T | - | IntronicSNV | - | 5/11 |
11-233067-C-A | SIRT3 | c.196G>T | p.Val66Phe | Missense | 3/7 | - |
12-4479549-G-A | FGF23 | c.716C>T | p.Thr239Met | Missense | 3/3 | - |
17-62007498-A-T | CD79B | c.366T>A | p.Cys122* | Nonsense | 3/6 | - |
21-27408020-G-A | APP | c.663-13662C>T | - | IntronicSNV | - | 5/17 |
19-7251842-T-G | INSR | c.652+15514A>C | - | IntronicSNV | - | 2/21 |
5-68576014-C-A | CCDC125 | c.*2542G>T | - | IntergenicSNV | 12/12 | - |
16-56999328-C-T | CETP | c.233+2292C>T | - | IntronicSNV | - | 2/15 |
19-49445817-T-C | DHDH | c.740T>C | p.Val247Ala | Missense | 5/7 | - |
17-47587819-C-T | NGFR | c.614C>T | p.Ser205Leu | Missense | 4/6 | - |
2-217039064-G-A | XRCC5 | c.1834+12293G>A | - | IntronicSNV | - | 16/20 |
8-10201532-G-A | MSRA | c.543+24033G>A | - | IntronicSNV | - | 5/5 |
3-138347957-G-A | FAIM | c.349G>A | p.Ala117Thr | Missense | 4/5 | - |
11-116652301-C-T | ZPR1 | c.1179+573G>A | - | IntronicSNV | - | 12/13 |
11-13345115-C-A | ARNTL | c.-189-2845C>A | - | intron_variant | - | 2/19 |
2-217039064-G-T | XRCC5 | c.1834+12293G>T | - | IntronicSNV | - | 16/20 |
3-25703640-C-T | TOP2B | c.69+2080G>A | - | IntronicSNV | - | 1/35 |
17-44067382-T-C | MAPT | c.1321T>C | p.Tyr441His | Missense | 8/14 | - |
17-64701623-G-A | PRKCA | c.918+16458G>A | - | IntronicSNV | - | 8/16 |
4-23814707-G-A | PPARGC1A | c.1835C>T | p.Thr612Met | Missense | 9/13 | - |
3-25608576-C-T | RARB | c.449-2673C>T | - | IntronicSNV | - | 3/7 |
18-60971644-A-G | BCL2 | c.585+13671T>C | - | IntronicSNV | - | 2/2 |
9-119148669-A-C | PAPPA | c.4776+3897A>C | - | IntronicSNV | - | 21/21 |
20-49152284-A-G | PTPN1 | c.-66+25157A>G | - | intron_variant | - | 1/8 |
6-152262113-A-G | ESR1 | c.761-3195A>G | - | IntronicSNV | - | 3/7 |
4-23814707-G-T | PPARGC1A | c.1835C>A | p.Thr612Lys | Missense | 9/13 | - |
3-25608576-C-A | RARB | c.449-2673C>A | - | IntronicSNV | - | 3/7 |
6-31838441-T-C | SLC44A4 | c.850A>G | p.Met284Val | Missense | 10/20 | - |
17-7536527-G-A | SHBG | c.1066G>A | p.Asp356Asn | Missense | 8/8 | - |
6-150114745-G-A | PCMT1 | c.532G>A | p.Val178Ile | Missense | 5/8 | - |
18-60971644-A-T | BCL2 | c.585+13671T>A | - | IntronicSNV | - | 2/2 |
11-61603237-C-T | FADS2 | c.208-2013C>T | - | IntronicSNV | - | 1/11 |
11-61615803-C-G | FADS2 | c.744+47C>G | - | IntronicSNV | - | 5/11 |
13-110427988-G-A | IRS2 | c.4012+6401C>T | - | IntronicSNV | - | 1/1 |
21-48063735-G-C | PRMT2 | c.144+184G>C | - | IntronicSNV | - | 3/10 |
13-32831643-T-A | FRY | c.7416+3112T>A | - | IntronicSNV | - | 51/60 |
16-57052730-C-G | NLRC5 | c.-13+1630C>G | - | intron_variant | - | 1/47 |
5-149490808-C-T | CSF1R | c.-181+2016G>A | - | intron_variant | - | 1/21 |
11-34467646-A-T | CAT | c.67-3093A>T | - | IntronicSNV | - | 1/12 |
11-34467646-A-G | CAT | c.67-3093A>G | - | IntronicSNV | - | 1/12 |
8-9988909-G-A | MSRA | c.143-76434G>A | - | IntronicSNV | - | 1/5 |
8-30900890-A-G | WRN | c.-77+9401A>G | - | intron_variant | - | 1/34 |
22-24199704-C-G | SLC2A11 | c.28C>G | p.Arg10Gly | Missense | 2/13 | - |
22-24199704-C-T | SLC2A11 | c.28C>T | p.Arg10Trp | Missense | 2/13 | - |
2-135161631-T-C | MGAT5 | c.1530+923T>C | - | IntronicSNV | - | 11/15 |
10-43598195-A-G | RET | c.625+118A>G | - | IntronicSNV | - | 3/19 |
11-108175462-G-A | ATM | c.5557G>A | p.Asp1853Asn | Missense | 37/63 | - |
13-33609282-A-G | KL | c.819+17885A>G | - | IntronicSNV | - | 1/4 |
3-25602890-T-C | RARB | c.449-8359T>C | - | IntronicSNV | - | 3/7 |
11-116728630-G-C | SIK3 | c.3407C>G | - | missense_variant | 20/24 | - |
12-124809027-G-A | NCOR2 | c.*921C>T | - | 3-UTRSNV | 49/49 | - |
15-99505062-C-A | IGF1R | c.*4391C>A | - | 3-UTRSNV | 21/21 | - |
6-114261596-T-A | HDAC2 | c.*626A>T | - | 3-UTRSNV | 14/14 | - |
17-41223094-T-C | BRCA1 | c.4837A>G | p.Ser1613Gly | Missense | 15/23 | - |
2-203098559-C-T | SUMO1 | c.12+4604G>A | - | IntronicSNV | - | 1/4 |
13-103523312-C-T | ERCC5 | c.2679-1236C>T | - | IntronicSNV | - | 12/14 |
17-41246481-T-C | BRCA1 | c.1067A>G | p.Gln356Arg | Missense | 10/23 | - |
10-50667105-T-C | ERCC6 | c.4238A>G | p.Gln1413Arg | Missense | 21/21 | - |
6-31778272-G-A | HSPA1L | c.1478C>T | p.Thr493Met | Missense | 2/2 | - |
8-30921935-G-A | WRN | c.340G>A | p.Val114Ile | Missense | 4/35 | - |
20-56182183-G-C | ZBP1 | c.1094-2358C>G | - | IntronicSNV | - | 7/7 |
20-56182183-G-T | ZBP1 | c.1094-2358C>A | - | IntronicSNV | - | 7/7 |
9-119148669-A-G | PAPPA | c.4776+3897A>G | - | IntronicSNV | - | 21/21 |
8-79688026-G-T | IL7 | c.147+22281C>A | - | IntronicSNV | - | 2/5 |
17-41245471-C-T | BRCA1 | c.2077G>A | p.Asp693Asn | Missense | 10/23 | - |
17-41245471-C-A | BRCA1 | c.2077G>T | p.Asp693Tyr | Missense | 10/23 | - |
5-149442474-G-A | CSF1R | c.1627-1062C>T | - | IntronicSNV | - | 11/21 |
16-57017319-G-A | CETP | c.1403G>A | p.Arg468Gln | Missense | 15/16 | - |
8-10241411-C-A | MSRA | c.544-44247C>A | - | IntronicSNV | - | 5/5 |
3-189534583-A-G | TP63 | c.579+8268A>G | - | IntronicSNV | - | 4/13 |
20-39792063-A-G | PLCG1 | c.835A>G | p.Ser279Gly | Missense | 9/32 | - |
18-60844089-A-G | BCL2 | c.586-48097T>C | - | IntronicSNV | - | 2/2 |
7-122780027-C-T | SLC13A1 | c.813-5444G>A | - | IntronicSNV | - | 7/14 |
8-32613983-T-C | NRG1 | c.767T>C | p.Met256Thr | Missense | 9/12 | - |
7-94898811-G-A | PPP1R9A | c.3116G>A | p.Arg1039Gln | Missense | 14/20 | - |
6-152449900-G-A | SYNE1 | c.26153+1955C>T | - | IntronicSNV | - | 145/145 |
2-217031678-C-T | XRCC5 | c.1834+4907C>T | - | IntronicSNV | - | 16/20 |
8-9986017-T-A | MSRA | c.142+73849T>A | - | IntronicSNV | - | 1/5 |
17-41223094-T-A | BRCA1 | c.4837A>T | p.Ser1613Cys | Missense | 15/23 | - |
6-152470752-C-A | SYNE1 | c.24502G>T | p.Ala8168Ser | Missense | 136/146 | - |
17-73326965-T-C | GRB2 | c.176+1816A>G | - | IntronicSNV | - | 3/5 |
8-10241411-C-G | MSRA | c.544-44247C>G | - | IntronicSNV | - | 5/5 |
5-35861068-T-C | IL7R | c.197T>C | p.Ile66Thr | Missense | 2/8 | - |
1-45932738-T-A | TESK2 | c.1-9281A>T | - | IntronicSNV | - | 1/10 |
5-149513072-A-G | PDGFRB | c.934+77T>C | - | IntronicSNV | - | 6/22 |
15-99505062-C-T | IGF1R | c.*4391C>T | - | 3-UTRSNV | 21/21 | - |
6-136969853-C-T | MAP3K5 | c.1788+2269G>A | - | IntronicSNV | - | 11/29 |
6-152456098-G-A | SYNE1 | c.25788+141C>T | - | IntronicSNV | - | 142/145 |
12-971291-C-G | WNK1 | c.1994C>G | p.Thr665Arg | Missense | 8/28 | - |
17-7529902-G-A | SAT2 | c.376C>T | p.Arg126Cys | Missense | 6/6 | - |
20-35826683-T-G | RPN2 | c.208-117T>G | - | IntronicSNV | - | 2/16 |
20-35826683-T-A | RPN2 | c.208-117T>A | - | IntronicSNV | - | 2/16 |
9-100388197-C-T | TSTD2 | c.248G>A | p.Arg83Gln | Missense | 3/10 | - |
8-31004582-T-G | WRN | c.3397T>G | p.Ser1133Ala | Missense | 29/35 | - |
10-90677813-T-A | STAMBPL1 | c.1041+1239T>A | - | IntronicSNV | - | 8/10 |
21-35228502-G-A | ITSN1 | c.3662-538G>A | - | IntronicSNV | - | 29/39 |
2-170175334-T-C | LRP2 | c.248A>G | p.Asn83Ser | Missense | 3/79 | - |
8-31849368-T-A | NRG1 | c.37+352421T>A | - | IntronicSNV | - | 1/11 |
7-106779480-C-T | PRKAR2B | c.481-1812C>T | - | IntronicSNV | - | 4/10 |
13-110430768-G-T | IRS2 | c.4012+3621C>A | - | IntronicSNV | - | 1/1 |
13-110430768-G-A | IRS2 | c.4012+3621C>T | - | IntronicSNV | - | 1/1 |
13-110430768-G-C | IRS2 | c.4012+3621C>G | - | IntronicSNV | - | 1/1 |
2-74761539-T-A | LOXL3 | c.1843A>T | p.Ile615Phe | Missense | 11/14 | - |
7-55128339-T-G | EGFR | c.88+41281T>G | - | IntronicSNV | - | 1/27 |
6-152291366-G-C | ESR1 | c.1096+25723G>C | - | IntronicSNV | - | 4/7 |
17-64733562-G-T | PRKCA | c.1231-1320G>T | - | IntronicSNV | - | 10/16 |
11-116745484-C-G | SIK3 | c.1427+390G>C | - | intron_variant | - | 11/23 |
9-136269143-G-A | STKLD1 | c.1703G>A | p.Arg568Gln | Missense | 16/18 | - |
9-136269143-G-C | STKLD1 | c.1703G>C | p.Arg568Pro | Missense | 16/18 | - |
7-94946084-A-C | PON1 | c.163T>G | p.Leu55Val | Missense | 3/9 | - |
7-73470714-G-A | ELN | c.1264G>A | p.Gly422Ser | Missense | 20/33 | - |
9-32490675-G-T | DDX58 | c.691+624C>A | - | IntronicSNV | - | 5/17 |
7-116175711-T-C | CAV1 | c.195+8968T>C | - | IntronicSNV | - | 2/2 |
9-32490675-G-C | DDX58 | c.691+624C>G | - | IntronicSNV | - | 5/17 |
15-43762196-C-T | TP53BP1 | c.1249G>A | p.Gly417Ser | Missense | 11/28 | - |
2-170053505-C-G | LRP2 | c.8614G>C | p.Ala2872Pro | Missense | 46/79 | - |
11-62458275-T-C | BSCL2 | c.945A>G | p.Glu315Glu | Synonymous | 9/11 | - |
1-115837709-A-T | NGF | c.-136-1338T>A | - | intron_variant | - | 1/2 |
3-189400282-T-A | TP63 | c.62+50916T>A | - | IntronicSNV | - | 1/13 |
1-40735472-A-G | ZMPSTE24 | c.475-175A>G | - | IntronicSNV | - | 4/9 |
5-149481322-A-C | CSF1R | c.-181+11502T>G | - | intron_variant | - | 1/21 |
19-45366779-T-C | NECTIN2 | c.89-1749T>C | - | IntronicSNV | - | 1/5 |
17-37826443-T-A | PNMT | c.650T>A | p.Leu217Gln | Missense | 3/3 | - |
5-141011346-A-C | HDAC3 | c.282-1654T>G | - | IntronicSNV | - | 3/14 |
6-31506648-G-T | DDX39B | c.340-16C>A | - | IntronicSNV | - | 3/10 |
13-32906729-A-C | BRCA2 | c.1114A>C | p.Asn372His | Missense | 10/27 | - |
19-46029172-C-G | VASP | c.1048-32C>G | - | IntronicSNV | - | 11/12 |
17-15994554-G-A | NCOR1 | c.3016+623C>T | - | IntronicSNV | - | 22/45 |
16-57051154-G-T | NLRC5 | c.-13+54G>T | - | intron_variant | - | 1/47 |
5-35876274-A-G | IL7R | c.1066A>G | p.Ile356Val | Missense | 8/8 | - |
2-216995591-T-C | XRCC5 | c.938-7T>C | - | IntronicSNV | - | 8/20 |
11-248818-G-C | PSMD13 | c.611G>C | p.Gly204Ala | Missense | 8/13 | - |
14-20876189-G-A | TEP1 | c.410C>T | p.Thr137Met | Missense | 2/55 | - |
1-3615156-C-G | TP73 | c.187-8957C>G | - | IntronicSNV | - | 3/13 |
8-10241411-C-T | MSRA | c.544-44247C>T | - | IntronicSNV | - | 5/5 |
8-73982161-A-G | SBSPON | c.556T>C | p.Trp186Arg | Missense | 4/5 | - |
11-248818-G-A | PSMD13 | c.611G>A | p.Gly204Glu | Missense | 8/13 | - |
8-38299419-G-A | FGFR1 | c.92-11953C>T | - | IntronicSNV | - | 2/17 |
8-27257787-T-A | PTK2B | c.204+2482T>A | - | IntronicSNV | - | 3/31 |
3-123094451-T-C | ADCY5 | c.1135-23023A>G | - | IntronicSNV | - | 1/20 |
7-127946901-C-T | RBM28 | c.*3949G>A | - | IntergenicSNV | 19/19 | - |
13-32906480-A-C | BRCA2 | c.865A>C | p.Asn289His | Missense | 10/27 | - |
15-89836228-G-T | FANCI | c.2225G>T | p.Cys742Phe | Missense | 22/37 | - |
15-89836228-G-C | FANCI | c.2225G>C | p.Cys742Ser | Missense | 22/37 | - |
15-89836228-G-A | FANCI | c.2225G>A | p.Cys742Tyr | Missense | 22/37 | - |
13-32906480-A-G | BRCA2 | c.865A>G | p.Asn289Asp | Missense | 10/27 | - |
10-50743088-G-A | ERCC6 | c.1-2078C>T | - | IntronicSNV | - | 1/20 |
14-73705476-G-A | PAPLN | c.1-1011G>A | - | IntronicSNV | - | 1/25 |
17-64605504-G-T | PRKCA | c.289-31969G>T | - | IntronicSNV | - | 3/16 |
3-189540356-T-G | TP63 | c.579+14041T>G | - | IntronicSNV | - | 4/13 |
13-33628138-T-A | KL | c.1054T>A | p.Phe352Ile | Missense | 2/5 | - |
2-208478055-A-G | METTL21A | c.372T>C | p.Thr124Thr | Synonymous | 4/4 | - |
13-33628138-T-G | KL | c.1054T>G | p.Phe352Val | Missense | 2/5 | - |
4-110902111-A-T | EGF | c.2351A>T | p.Asp784Val | Missense | 15/23 | - |
13-110413817-G-A | IRS2 | c.4013-5162C>T | - | IntronicSNV | - | 1/1 |
17-62030231-T-A | SCN4A | c.2377-971A>T | - | IntronicSNV | - | 13/23 |
2-217543728-G-T | IGFBP5 | c.412C>A | p.Arg138Arg | Synonymous | 2/4 | - |
14-20900255-T-G | KLHL33 | c.1-1421A>C | - | IntronicSNV | - | 1/3 |
2-217543728-G-A | IGFBP5 | c.412C>T | p.Arg138Trp | Missense | 2/4 | - |
8-27334969-A-G | CHRNA2 | c.-137+1372T>C | - | intron_variant | - | 1/6 |
7-106776567-A-G | PRKAR2B | c.481-4725A>G | - | IntronicSNV | - | 4/10 |
20-56138648-G-A | PCK1 | c.826G>A | p.Glu276Lys | Missense | 6/10 | - |
7-116182054-C-T | CAV1 | c.195+15311C>T | - | IntronicSNV | - | 2/2 |
15-99308094-C-G | IGF1R | c.640+56758C>G | - | IntronicSNV | - | 2/20 |
2-135258645-A-G | TMEM163 | c.555+1827T>C | - | IntronicSNV | - | 5/7 |
19-7244884-T-C | INSR | c.652+22472A>G | - | IntronicSNV | - | 2/21 |
6-88856331-C-G | CNR1 | c.-64+1052G>C | - | intron_variant | - | 2/2 |
6-152262113-A-T | ESR1 | c.761-3195A>T | - | IntronicSNV | - | 3/7 |
17-64565054-C-G | PRKCA | c.289-72419C>G | - | IntronicSNV | - | 3/16 |
8-10030902-G-T | MSRA | c.143-34441G>T | - | IntronicSNV | - | 1/5 |
4-23815662-C-T | PPARGC1A | c.1444G>A | p.Gly482Ser | Missense | 8/13 | - |
14-62207557-C-T | HIF1A | c.1744C>T | p.Pro582Ser | Missense | 12/15 | - |
6-88856331-C-T | CNR1 | c.-64+1052G>A | - | intron_variant | - | 2/2 |
14-65524000-G-A | CHURC1-FNTB | c.1044+2593G>A | - | IntronicSNV | - | 12/12 |
16-57052730-C-A | NLRC5 | c.-13+1630C>A | - | intron_variant | - | 1/47 |
20-56139365-G-A | PCK1 | c.1102G>A | p.Val368Ile | Missense | 7/10 | - |
8-32247244-G-A | NRG1 | c.38-206102G>A | - | IntronicSNV | - | 1/11 |
12-124809027-G-C | NCOR2 | c.*921C>G | - | 3-UTRSNV | 49/49 | - |
6-31778272-G-T | HSPA1L | c.1478C>A | p.Thr493Lys | Missense | 2/2 | - |
11-116691675-T-C | APOA4 | c.1099A>G | p.Thr367Ala | Missense | 3/3 | - |
11-116691675-T-A | APOA4 | c.1099A>T | p.Thr367Ser | Missense | 3/3 | - |
13-103388015-C-G | CCDC168 | c.15032G>C | p.Gly5011Ala | Missense | 4/4 | - |
19-7074561-C-T | ZNF557 | c.1-525C>T | - | IntronicSNV | - | 2/7 |
13-103528002-G-C | ERCC5 | c.3310G>C | p.Asp1104His | Missense | 15/15 | - |
3-142281612-A-G | ATR | c.632T>C | p.Met211Thr | Missense | 4/47 | - |
14-20916249-T-C | OSGEP | c.702+16A>G | - | IntronicSNV | - | 7/10 |
8-31024654-T-C | WRN | c.4099T>C | p.Cys1367Arg | Missense | 34/35 | - |
6-152304328-C-T | ESR1 | c.1097-28463C>T | - | IntronicSNV | - | 4/7 |
8-32085171-C-T | NRG1 | c.38-368175C>T | - | IntronicSNV | - | 1/11 |
17-64712832-A-G | PRKCA | c.919-15974A>G | - | IntronicSNV | - | 8/16 |
17-64691666-T-C | PRKCA | c.918+6501T>C | - | IntronicSNV | - | 8/16 |
17-62020348-T-C | SCN4A | c.4126A>G | p.Asn1376Asp | Missense | 23/24 | - |
16-56601720-A-G | MT4 | c.89A>G | p.Tyr30Cys | Missense | 2/3 | - |
19-49254504-G-A | FUT1 | c.35C>T | p.Ala12Val | Missense | 4/4 | - |
1-115829178-C-T | NGF | c.239G>A | p.Arg80Gln | Missense | 3/3 | - |
15-99308094-C-T | IGF1R | c.640+56758C>T | - | IntronicSNV | - | 2/20 |
8-10029452-T-G | MSRA | c.143-35891T>G | - | IntronicSNV | - | 1/5 |