7-55273028-C-T |
EGFR |
c.3351C>T |
p.P1117= |
Synonymous |
28/28 |
- |
12-121432113-G-A |
HNF1A |
c.860G>A |
p.S287N |
Missense |
4/10 |
- |
1-27094332-C-T |
ARID1A |
c.3040C>T |
p.L1014= |
Synonymous |
11/20 |
- |
10-50701212-G-A |
ERCC6 |
c.1772C>T |
p.P591L |
Missense |
8/21 |
- |
1-118166385-G-A |
TENT5C |
c.895G>A |
p.E299K |
Missense |
2/2 |
- |
6-138202173-G-A |
TNFAIP3 |
c.2090G>A |
p.R697K |
Missense |
9/9 |
- |
16-89815055-C-T |
FANCA |
c.3348+12G>A |
- |
IntronicSNV |
- |
33/42 |
17-37666031-A-C |
CDK12 |
c.2666+17A>C |
- |
IntronicSNV |
- |
7/13 |
19-4110492-C-A |
MAP2K2 |
c.450+15G>T |
- |
IntronicSNV |
- |
3/10 |
19-4102354-T-C |
MAP2K2 |
c.528+20A>G |
- |
IntronicSNV |
- |
4/10 |
2-58387185-A-G |
FANCL |
c.1092+58T>C |
- |
IntronicSNV |
- |
13/13 |
19-11129600-C-T |
SMARCA4 |
c.2439-33C>T |
- |
IntronicSNV |
- |
16/34 |
19-45862194-A-G |
ERCC2 |
c.1238-1237T>C |
- |
IntronicSNV |
- |
12/22 |
3-10107215-A-G |
FANCD2 |
c.2269+37A>G |
- |
IntronicSNV |
- |
24/43 |
3-10081374-G-A |
FANCD2 |
c.571-31G>A |
- |
IntronicSNV |
- |
8/43 |
3-10116146-G-A |
FANCD2 |
c.2716-68G>A |
- |
IntronicSNV |
- |
28/43 |
5-56168571-G-A |
MAP3K1 |
c.1505+22G>A |
- |
IntronicSNV |
- |
8/19 |
7-116381104-A-G |
MET |
c.1701+25A>G |
- |
IntronicSNV |
- |
5/20 |
8-30958497-C-T |
WRN |
c.2088+26C>T |
- |
IntronicSNV |
- |
18/34 |
8-30958497-C-G |
WRN |
c.2088+26C>G |
- |
IntronicSNV |
- |
18/34 |
8-30921753-A-G |
WRN |
c.210-52A>G |
- |
IntronicSNV |
- |
3/34 |
8-145737022-C-T |
RECQL4 |
c.3502+42G>A |
- |
intron_variant |
- |
21/21 |
10-43612226-C-A |
RET |
c.2284+47C>A |
- |
IntronicSNV |
- |
12/19 |
10-43612226-C-G |
RET |
c.2284+47C>G |
- |
IntronicSNV |
- |
12/19 |
17-29483195-G-C |
NF1 |
c.204+51G>C |
- |
IntronicSNV |
- |
2/57 |
17-29483195-G-T |
NF1 |
c.204+51G>T |
- |
IntronicSNV |
- |
2/57 |
5-112116661-C-T |
APC |
c.645+61C>T |
- |
IntronicSNV |
- |
6/15 |
2-58389969-G-C |
FANCL |
c.903+32C>G |
- |
IntronicSNV |
- |
11/13 |
12-46230510-A-C |
ARID2 |
c.773-14A>C |
- |
IntronicSNV |
- |
7/20 |
3-10188328-C-T |
VHL |
c.463+8C>T |
- |
IntronicSNV |
- |
2/2 |
10-123247644-A-C |
FGFR2 |
c.1864-17T>G |
- |
IntronicSNV |
- |
13/17 |
10-123247644-A-G |
FGFR2 |
c.1864-17T>C |
- |
IntronicSNV |
- |
13/17 |
3-142281971-G-A |
ATR |
c.293-20C>T |
- |
IntronicSNV |
- |
3/46 |
19-11170576-G-A |
SMARCA4 |
c.4768+15G>A |
- |
IntronicSNV |
- |
33/34 |
19-11170576-G-C |
SMARCA4 |
c.4768+15G>C |
- |
IntronicSNV |
- |
33/34 |
11-108202772-G-T |
ATM |
c.7788+8G>T |
- |
IntronicSNV |
- |
52/62 |
8-48856474-T-C |
PRKDC |
c.778-31A>G |
- |
IntronicSNV |
- |
8/86 |
8-145741142-T-G |
RECQL4 |
c.1258+6A>C |
- |
IntronicSNV |
- |
6/21 |
8-48801040-A-G |
PRKDC |
c.4410+39T>C |
- |
intron_variant |
- |
35/86 |
17-29677184-C-T |
NF1 |
c.7322-17C>T |
- |
IntronicSNV |
- |
49/57 |
1-11181985-G-A |
MTOR |
c.6810+51C>T |
- |
IntronicSNV |
- |
48/57 |
17-37866182-G-A |
ERBB2 |
c.643+48G>A |
- |
IntronicSNV |
- |
5/26 |
17-37866182-G-C |
ERBB2 |
c.643+48G>C |
- |
IntronicSNV |
- |
5/26 |
19-11118711-C-T |
SMARCA4 |
c.2123+12C>T |
- |
IntronicSNV |
- |
14/34 |
19-11096851-A-G |
SMARCA4 |
c.356-14A>G |
- |
IntronicSNV |
- |
3/34 |
19-11107085-G-A |
SMARCA4 |
c.1761+29G>A |
- |
IntronicSNV |
- |
10/34 |
7-55233164-C-T |
EGFR |
c.1880+34C>T |
- |
IntronicSNV |
- |
15/27 |
19-40748639-C-T |
AKT2 |
c.288-45G>A |
- |
IntronicSNV |
- |
4/13 |
11-125499063-A-G |
CHEK1 |
c.290-64A>G |
- |
IntronicSNV |
- |
3/12 |
19-40745923-C-T |
AKT2 |
c.639+29G>A |
- |
IntronicSNV |
- |
7/13 |
22-24143308-C-T |
SMARCB1 |
c.500+40C>T |
- |
IntronicSNV |
- |
4/8 |
1-65351896-T-C |
JAK1 |
c.6+46A>G |
- |
IntronicSNV |
- |
2/24 |
9-139407614-T-C |
NOTCH1 |
c.2354-28A>G |
- |
IntronicSNV |
- |
14/33 |
9-139405584-C-T |
NOTCH1 |
c.2587+20G>A |
- |
IntronicSNV |
- |
16/33 |
4-1805593-G-A |
FGFR3 |
c.1075+30G>A |
- |
IntronicSNV |
- |
8/17 |
4-1805593-G-C |
FGFR3 |
c.1075+30G>C |
- |
IntronicSNV |
- |
8/17 |
4-1805593-G-T |
FGFR3 |
c.1075+30G>T |
- |
IntronicSNV |
- |
8/17 |
3-142259691-T-C |
ATR |
c.3581+55A>G |
- |
IntronicSNV |
- |
18/46 |
4-55155124-G-A |
PDGFRA |
c.2775-52G>A |
- |
IntronicSNV |
- |
20/22 |
3-142266778-A-T |
ATR |
c.3172-26T>A |
- |
IntronicSNV |
- |
15/46 |
4-1809025-A-G |
FGFR3 |
c.*36A>G |
- |
3-UTRSNV |
18/18 |
- |
14-35872068-G-A |
NFKBIA |
c.548-3C>T |
- |
IntronicSNV |
- |
3/5 |
8-30921970-A-T |
WRN |
c.355+20A>T |
- |
IntronicSNV |
- |
4/34 |
8-30925751-T-A |
WRN |
c.655-23T>A |
- |
IntronicSNV |
- |
6/34 |
19-45868291-T-A |
ERCC2 |
c.477+9A>T |
- |
IntronicSNV |
- |
6/22 |
3-178937346-T-C |
PIK3CA |
c.1747-13T>C |
- |
IntronicSNV |
- |
11/20 |
19-11170585-C-A |
SMARCA4 |
c.4768+24C>A |
- |
IntronicSNV |
- |
33/34 |
19-11170585-C-T |
SMARCA4 |
c.4768+24C>T |
- |
IntronicSNV |
- |
33/34 |
19-45862112-G-A |
ERCC2 |
c.1238-1155C>T |
- |
IntronicSNV |
- |
12/22 |
19-45862112-G-C |
ERCC2 |
c.1238-1155C>G |
- |
IntronicSNV |
- |
12/22 |
19-45862112-G-T |
ERCC2 |
c.1238-1155C>A |
- |
IntronicSNV |
- |
12/22 |
11-108186653-T-C |
ATM |
c.6095+15T>C |
- |
IntronicSNV |
- |
41/62 |
12-56495162-A-C |
ERBB3 |
c.3502+17A>C |
- |
IntronicSNV |
- |
27/27 |
12-56495162-A-G |
ERBB3 |
c.3502+17A>G |
- |
IntronicSNV |
- |
27/27 |
16-89845178-T-TAC |
FANCA |
c.1826+30_1826+31insGT |
- |
IntronicInsertion |
- |
20/42 |
16-68847443-G-C |
CDH1 |
c.1320+45G>C |
- |
IntronicSNV |
- |
9/15 |
15-40462228-A-G |
BUB1B |
c.180-35A>G |
- |
IntronicSNV |
- |
2/22 |
7-148507534-C-CT |
EZH2 |
c.1948-29_1948-29dup |
- |
IntronicInsertion |
- |
16/19 |
16-2124241-G-A |
TSC2 |
c.2396G>A |
p.R799H |
Missense |
22/42 |
- |
1-118166492-C-T |
TENT5C |
c.1002C>T |
p.S334= |
Synonymous |
2/2 |
- |
8-31014939-C-A |
WRN |
c.3875C>A |
p.S1292Y |
Missense |
33/35 |
- |
10-50713944-G-A |
ERCC6 |
c.1512C>T |
p.F504= |
Synonymous |
6/21 |
- |
17-37672045-C-T |
CDK12 |
c.2830C>T |
p.Q944* |
Nonsense |
9/14 |
- |
10-123256163-G-A |
FGFR2 |
c.1746C>T |
p.P582= |
Synonymous |
13/18 |
- |
1-2491341-C-T |
TNFRSF14 |
c.384C>T |
p.I128= |
Synonymous |
4/8 |
- |
19-45854979-C-T |
ERCC2 |
c.2191G>A |
p.E731K |
Missense |
23/23 |
- |
1-120529699-T-C |
NOTCH2 |
c.758A>G |
p.E253G |
Missense |
5/34 |
- |
22-30035084-G-A |
NF2 |
c.246G>A |
p.L82= |
Synonymous |
3/16 |
- |
4-55127443-C-T |
PDGFRA |
c.231C>T |
p.N77= |
Synonymous |
3/23 |
- |
9-139396861-G-A |
NOTCH1 |
c.5247C>T |
p.F1749= |
Synonymous |
28/34 |
- |
17-37619038-G-A |
CDK12 |
c.714G>A |
p.S238= |
Synonymous |
1/14 |
- |
8-48749902-G-A |
PRKDC |
c.7631C>T |
p.S2543S |
Missense |
58/87 |
- |
5-67589197-A-G |
PIK3R1 |
c.1185A>G |
p.P395= |
Synonymous |
10/16 |
- |
15-89811688-A-G |
FANCI |
c.814A>G |
p.I272V |
Missense |
10/38 |
- |
9-5064921-C-G |
JAK2 |
c.1095C>G |
p.F365L |
Missense |
9/25 |
- |
1-27099883-C-T |
ARID1A |
c.3762C>T |
p.G1254= |
Synonymous |
15/20 |
- |
7-55273279-C-A |
EGFR |
c.3602C>A |
p.A1201E |
Missense |
28/28 |
- |
8-48771157-G-A |
PRKDC |
c.6384C>T |
p.L2128= |
Synonymous |
49/87 |
- |
8-133919075-A-G |
TG |
c.3777A>G |
p.P1259= |
Synonymous |
17/48 |
- |
19-4110552-C-G |
MAP2K2 |
c.405G>C |
p.G135= |
Synonymous |
3/11 |
- |
17-37682292-G-A |
CDK12 |
c.3483G>A |
p.T1161= |
Synonymous |
13/14 |
- |
8-48691066-C-T |
PRKDC |
c.11806G>A |
p.G3935D |
Missense |
84/87 |
- |
3-10115043-C-T |
FANCD2 |
c.2712C>T |
p.N904= |
Synonymous |
28/44 |
- |
X-76891446-A-G |
ATRX |
c.4659T>C |
p.H1553= |
Synonymous |
16/35 |
- |
12-46254625-C-T |
ARID2 |
c.4815C>T |
p.G1605= |
Synonymous |
16/21 |
- |
5-56178615-A-C |
MAP3K1 |
c.3588A>C |
p.S1196= |
Synonymous |
14/20 |
- |
16-396909-G-A |
AXIN1 |
c.117C>T |
p.P39= |
Synonymous |
2/11 |
- |
12-121432117-G-A |
HNF1A |
c.864G>A |
p.G288= |
Synonymous |
4/10 |
- |
8-145740622-C-T |
RECQL4 |
c.1395G>A |
p.T465= |
Synonymous |
8/22 |
- |
12-121432192-C-T |
HNF1A |
c.939C>T |
p.S313= |
Synonymous |
4/10 |
- |
19-1221284-G-A |
STK11 |
c.807G>A |
p.K269= |
Synonymous |
6/10 |
- |
4-1806187-C-T |
FGFR3 |
c.1206C>T |
p.P402= |
Synonymous |
9/18 |
- |
7-55248991-C-G |
EGFR |
c.2289C>G |
p.A763= |
Synonymous |
20/28 |
- |
12-121432141-A-C |
HNF1A |
c.888A>C |
p.G296= |
Synonymous |
4/10 |
- |
4-55139765-A-C |
PDGFRA |
c.1426A>C |
p.I476L |
Missense |
10/23 |
- |
12-121432126-A-G |
HNF1A |
c.873A>G |
p.P291= |
Synonymous |
4/10 |
- |
4-1806232-C-T |
FGFR3 |
c.1251C>T |
p.F417= |
Synonymous |
9/18 |
- |
2-212289001-G-A |
ERBB4 |
c.2745C>T |
p.T915= |
Synonymous |
23/28 |
- |
11-108138028-T-C |
ATM |
c.2597T>C |
p.V866A |
Missense |
17/63 |
- |
7-148526908-A-G |
EZH2 |
c.396T>C |
p.P132= |
Synonymous |
5/20 |
- |
19-1223004-C-T |
STK11 |
c.941C>T |
p.P314L |
Missense |
8/10 |
- |
16-14041719-G-A |
ERCC4 |
c.2266G>A |
p.V756M |
Missense |
11/11 |
- |
4-1806211-C-G |
FGFR3 |
c.1230C>G |
p.T410= |
Synonymous |
9/18 |
- |
14-45620699-C-T |
FANCM |
c.1018C>T |
p.Q340* |
Nonsense |
5/23 |
- |
12-121432123-C-A |
HNF1A |
c.870C>A |
p.P290= |
Synonymous |
4/10 |
- |
6-138202258-G-A |
TNFAIP3 |
c.2175G>A |
p.L725= |
Synonymous |
9/9 |
- |
11-108128299-A-G |
ATM |
c.2342A>G |
p.Q781R |
Missense |
15/63 |
- |
5-56160695-G-A |
MAP3K1 |
c.969G>A |
p.G323= |
Synonymous |
4/20 |
- |
2-212288931-A-G |
ERBB4 |
c.2815T>C |
p.L939= |
Synonymous |
23/28 |
- |
2-212288935-T-C |
ERBB4 |
c.2811A>G |
p.E937= |
Synonymous |
23/28 |
- |
2-212288947-T-C |
ERBB4 |
c.2799A>G |
p.L933= |
Synonymous |
23/28 |
- |
2-212288949-A-G |
ERBB4 |
c.2797T>C |
p.L933= |
Synonymous |
23/28 |
- |
2-212288956-A-G |
ERBB4 |
c.2790T>C |
p.P930= |
Synonymous |
23/28 |
- |
22-24133957-C-G |
SMARCB1 |
c.108C>G |
p.L36= |
Synonymous |
2/9 |
- |
22-24134003-A-C |
SMARCB1 |
c.154A>C |
p.R52= |
Synonymous |
2/9 |
- |
11-94180388-T-C |
MRE11 |
c.1780A>G |
p.R594G |
Missense |
15/20 |
- |
1-11288950-C-T |
MTOR |
c.2805G>A |
p.L935= |
Synonymous |
19/58 |
- |
17-37618749-C-A |
CDK12 |
c.425C>A |
p.S142* |
Nonsense |
1/14 |
- |
17-37657656-G-A |
CDK12 |
c.2573G>A |
p.R858Q |
Missense |
6/14 |
- |
20-36024651-G-A |
SRC |
c.640G>A |
p.G214S |
Missense |
8/14 |
- |
16-14041629-C-T |
ERCC4 |
c.2176C>T |
p.R726C |
Missense |
11/11 |
- |
2-212288968-C-G |
ERBB4 |
c.2778G>C |
p.T926= |
Synonymous |
23/28 |
- |
X-15841063-C-G |
ZRSR2 |
c.1147C>G |
p.P383A |
Missense |
11/11 |
- |
16-348011-C-T |
AXIN1 |
c.1495G>A |
p.V499M |
Missense |
6/11 |
- |
1-65306945-T-C |
JAK1 |
c.2632A>G |
p.I878V |
Missense |
19/25 |
- |
13-32971023-T-C |
BRCA2 |
c.9502-12T>C |
- |
IntronicSNV |
- |
25/26 |
13-32971023-T-G |
BRCA2 |
c.9502-12T>G |
- |
IntronicSNV |
- |
25/26 |
11-108155013-A-G |
ATM |
c.3806A>G |
p.K1269R |
Missense |
26/63 |
- |
1-156851274-G-A |
NTRK1 |
c.2231G>A |
p.R744H |
Missense |
17/17 |
- |
4-55131126-C-T |
PDGFRA |
c.669C>T |
p.T223= |
Synonymous |
5/23 |
- |
19-4117516-T-C |
MAP2K2 |
c.204A>G |
p.K68= |
Synonymous |
2/11 |
- |
2-29416418-G-A |
ALK |
c.4535C>T |
p.T1512I |
Missense |
29/29 |
- |
13-32900634-A-C |
BRCA2 |
c.517-2A>C |
- |
IntronicSNV |
- |
6/26 |
17-41267810-G-A |
BRCA1 |
c.81-14C>T |
- |
IntronicSNV |
- |
2/22 |
17-41267810-G-C |
BRCA1 |
c.81-14C>G |
- |
IntronicSNV |
- |
2/22 |
17-41267810-G-T |
BRCA1 |
c.81-14C>A |
- |
IntronicSNV |
- |
2/22 |
13-32944741-C-A |
BRCA2 |
c.8487+47C>A |
- |
IntronicSNV |
- |
19/26 |
13-32905024-A-G |
BRCA2 |
c.682-32A>G |
- |
IntronicSNV |
- |
8/26 |
9-139399941-G-A |
NOTCH1 |
c.4407C>T |
p.N1469= |
Synonymous |
25/34 |
- |
19-40741001-G-A |
AKT2 |
c.1317C>T |
p.F439= |
Synonymous |
13/14 |
- |
13-32900634-A-G |
BRCA2 |
c.517-2A>G |
- |
IntronicSNV |
- |
6/26 |
3-14220090-C-A |
XPC |
c.1-22G>T |
- |
5-UTRSNV |
1/16 |
- |
1-11182183-G-A |
MTOR |
c.6663C>T |
p.S2221= |
Synonymous |
48/58 |
- |
4-1807166-C-T |
FGFR3 |
c.1497C>T |
p.A499= |
Synonymous |
11/18 |
- |
15-66774160-C-T |
MAP2K1 |
c.636C>T |
p.S212= |
Synonymous |
6/11 |
- |
16-396603-C-T |
AXIN1 |
c.423G>A |
p.A141= |
Synonymous |
2/11 |
- |
16-2114320-C-T |
TSC2 |
c.1491C>T |
p.P497= |
Synonymous |
15/42 |
- |
14-35871201-C-G |
NFKBIA |
c.*18G>C |
- |
3-UTRSNV |
6/6 |
- |
3-14220090-C-T |
XPC |
c.1-22G>A |
- |
5-UTRSNV |
1/16 |
- |
10-123325043-C-T |
FGFR2 |
c.285G>A |
p.K95= |
Synonymous |
3/18 |
- |
10-123260353-C-T |
FGFR2 |
c.1548G>A |
p.V516= |
Synonymous |
11/18 |
- |
17-29687543-G-A |
NF1 |
c.8199G>A |
p.K2733= |
Synonymous |
57/58 |
- |
1-27107000-C-T |
ARID1A |
c.6611C>T |
p.A2204V |
Missense |
20/20 |
- |
15-91347568-G-A |
BLM |
c.3730G>A |
p.V1244I |
Missense |
19/22 |
- |
2-29498283-C-T |
ALK |
c.1897G>A |
p.D633N |
Missense |
10/29 |
- |
2-39487824-C-T |
MAP4K3 |
c.2231G>A |
p.R744K |
Missense |
29/34 |
- |
3-142274810-T-C |
ATR |
c.2250A>G |
p.Q750= |
Synonymous |
10/47 |
- |
11-47238498-G-A |
DDB2 |
c.354G>A |
p.A118= |
Synonymous |
3/10 |
- |
6-35423914-G-A |
FANCE |
c.639G>A |
p.G213= |
Synonymous |
2/10 |
- |
2-48030714-C-T |
MSH6 |
c.3328C>T |
p.P1110S |
Missense |
5/10 |
- |
9-35075746-G-A |
FANCG |
c.1149C>T |
p.S383= |
Synonymous |
10/14 |
- |
7-116339504-C-T |
MET |
c.366C>T |
p.V122= |
Synonymous |
2/21 |
- |
10-89720794-T-G |
PTEN |
c.945T>G |
p.Y315* |
Nonsense |
8/9 |
- |
2-212426691-G-A |
ERBB4 |
c.2424C>T |
p.V808= |
Synonymous |
20/28 |
- |
12-46233253-C-G |
ARID2 |
c.1472C>G |
p.T491S |
Missense |
11/21 |
- |
2-212483991-C-T |
ERBB4 |
c.2212G>A |
p.V738I |
Missense |
19/28 |
- |
1-11190674-G-A |
MTOR |
c.5525C>T |
p.A1842V |
Missense |
39/58 |
- |
9-135781444-A-G |
TSC1 |
c.1521T>C |
p.F507= |
Synonymous |
15/23 |
- |
19-45867724-C-T |
ERCC2 |
c.676G>A |
p.A226T |
Missense |
8/23 |
- |
8-133935602-G-A |
TG |
c.4548G>A |
p.R1516= |
Synonymous |
22/48 |
- |
9-135781428-G-A |
TSC1 |
c.1537C>T |
p.P513S |
Missense |
15/23 |
- |
19-11105597-G-A |
SMARCA4 |
c.1513G>A |
p.A505T |
Missense |
9/35 |
- |
16-89805886-C-T |
FANCA |
c.4010G>A |
p.S1337N |
Missense |
40/43 |
- |
16-89882393-C-T |
FANCA |
c.81G>A |
p.A27= |
Synonymous |
2/43 |
- |
5-112128202-A-G |
APC |
c.705A>G |
p.L235= |
Synonymous |
7/16 |
- |
12-46254590-C-G |
ARID2 |
c.4780C>G |
p.P1594A |
Missense |
16/21 |
- |
12-46246584-G-A |
ARID2 |
c.4678G>A |
p.A1560T |
Missense |
15/21 |
- |
5-112174762-G-A |
APC |
c.3471G>A |
p.E1157= |
Synonymous |
16/16 |
- |
14-75515125-T-C |
MLH3 |
c.1234A>G |
p.K412E |
Missense |
2/13 |
- |
8-31000198-A-G |
WRN |
c.3290A>G |
p.E1097G |
Missense |
27/35 |
- |
17-37883669-C-T |
ERBB2 |
c.3281C>T |
p.A1094V |
Missense |
26/27 |
- |
19-11095045-A-G |
SMARCA4 |
c.218A>G |
p.H73R |
Missense |
2/35 |
- |
17-37864647-G-A |
ERBB2 |
c.299G>A |
p.R100Q |
Missense |
3/27 |
- |
17-37866429-C-T |
ERBB2 |
c.734C>T |
p.T245M |
Missense |
6/27 |
- |
16-68857457-G-A |
CDH1 |
c.2092G>A |
p.A698T |
Missense |
13/16 |
- |
19-4117609-C-G |
MAP2K2 |
c.111G>C |
p.L37= |
Synonymous |
2/11 |
- |
1-27057815-C-A |
ARID1A |
c.1523C>A |
p.P508Q |
Missense |
3/20 |
- |
9-139400040-G-A |
NOTCH1 |
c.4308C>T |
p.A1436= |
Synonymous |
25/34 |
- |
1-27101636-A-G |
ARID1A |
c.4918A>G |
p.T1640A |
Missense |
18/20 |
- |
1-27105636-G-A |
ARID1A |
c.5247G>A |
p.R1749= |
Synonymous |
20/20 |
- |
1-27106025-G-A |
ARID1A |
c.5636G>A |
p.R1879Q |
Missense |
20/20 |
- |
10-123247550-G-A |
FGFR2 |
c.1941C>T |
p.L647= |
Synonymous |
14/18 |
- |
1-45798256-G-A |
MUTYH |
c.596C>T |
p.A199V |
Missense |
8/16 |
- |
12-56494872-C-T |
ERBB3 |
c.3229C>T |
p.R1077W |
Missense |
27/28 |
- |
13-103510688-C-A |
ERCC5 |
c.592C>A |
p.P198T |
Missense |
6/15 |
- |
4-55143693-G-A |
PDGFRA |
c.1891+34G>A |
- |
IntronicSNV |
- |
13/22 |
12-121416728-G-A |
HNF1A |
c.157G>A |
p.G53S |
Missense |
1/10 |
- |
12-46211568-C-T |
ARID2 |
c.534C>T |
p.N178= |
Synonymous |
5/21 |
- |
16-89849468-A-C |
FANCA |
c.1513T>G |
p.S505A |
Missense |
16/43 |
- |
20-36024599-C-T |
SRC |
c.588C>T |
p.N196= |
Synonymous |
8/14 |
- |
7-55241607-C-G |
EGFR |
c.2062-7C>G |
- |
IntronicSNV |
- |
17/27 |
8-145740707-C-T |
RECQL4 |
c.1390+3G>A |
- |
IntronicSNV |
- |
7/21 |
7-55273218-G-A |
EGFR |
c.3541G>A |
p.A1181T |
Missense |
28/28 |
- |
14-75516021-T-C |
MLH3 |
c.338A>G |
p.K113R |
Missense |
2/13 |
- |
2-212251537-G-A |
ERBB4 |
c.3481+41C>T |
- |
IntronicSNV |
- |
27/27 |
15-40512836-C-T |
BUB1B |
c.3029C>T |
p.S1010F |
Missense |
23/23 |
- |
5-131945081-C-T |
RAD50 |
c.3029C>T |
p.T1010I |
Missense |
19/25 |
- |
5-131911536-T-C |
RAD50 |
c.281T>C |
p.I94T |
Missense |
3/25 |
- |
8-48772180-G-A |
PRKDC |
c.6196C>T |
p.R2066W |
missense_variant |
47/87 |
- |
2-212543930-G-A |
ERBB4 |
c.1490-21C>T |
- |
IntronicSNV |
- |
12/27 |
2-212543930-G-C |
ERBB4 |
c.1490-21C>G |
- |
IntronicSNV |
- |
12/27 |
2-212251537-G-T |
ERBB4 |
c.3481+41C>A |
- |
IntronicSNV |
- |
27/27 |
5-131972916-A-G |
RAD50 |
c.3475+24A>G |
- |
IntronicSNV |
- |
22/24 |
22-30069383-G-C |
NF2 |
c.1248G>C |
p.A416= |
Synonymous |
12/16 |
- |
22-30069392-G-A |
NF2 |
c.1257G>A |
p.T419= |
Synonymous |
12/16 |
- |
5-131931341-C-A |
RAD50 |
c.2046C>A |
p.P682= |
Synonymous |
13/25 |
- |
9-139438537-G-T |
NOTCH1 |
c.79C>A |
p.P27T |
Missense |
2/34 |
- |
1-27087448-T-C |
ARID1A |
c.2022T>C |
p.S674= |
Synonymous |
5/20 |
- |
1-11188138-C-T |
MTOR |
c.5956G>A |
p.A1986T |
Missense |
43/58 |
- |
9-5072536-C-T |
JAK2 |
c.1686C>T |
p.G562= |
Synonymous |
13/25 |
- |
11-533779-T-C |
HRAS |
c.277A>G |
p.I93V |
Missense |
3/6 |
- |
1-27087466-T-C |
ARID1A |
c.2040T>C |
p.P680= |
Synonymous |
5/20 |
- |
1-27087469-C-T |
ARID1A |
c.2043C>T |
p.F681= |
Synonymous |
5/20 |
- |
1-27100182-G-A |
ARID1A |
c.3978G>A |
p.P1326= |
Synonymous |
16/20 |
- |
1-27100182-G-T |
ARID1A |
c.3978G>T |
p.P1326= |
Synonymous |
16/20 |
- |
7-116419011-T-G |
MET |
c.3522T>G |
p.H1174Q |
Missense |
17/21 |
- |
1-27087478-T-C |
ARID1A |
c.2052T>C |
p.H684= |
Synonymous |
5/20 |
- |
1-27101482-T-C |
ARID1A |
c.4764T>C |
p.P1588= |
Synonymous |
18/20 |
- |
1-27101500-A-C |
ARID1A |
c.4782A>C |
p.P1594= |
Synonymous |
18/20 |
- |
1-27106620-C-T |
ARID1A |
c.6231C>T |
p.P2077= |
Synonymous |
20/20 |
- |
1-27106629-T-C |
ARID1A |
c.6240T>C |
p.I2080= |
Synonymous |
20/20 |
- |
1-27106980-C-T |
ARID1A |
c.6591C>T |
p.G2197= |
Synonymous |
20/20 |
- |
1-27106986-A-G |
ARID1A |
c.6597A>G |
p.L2199= |
Synonymous |
20/20 |
- |
2-29519852-G-A |
ALK |
c.1719C>T |
p.T573= |
Synonymous |
9/29 |
- |
12-58145360-T-C |
CDK4 |
c.141A>G |
p.G47= |
Synonymous |
2/8 |
- |
12-58145367-C-G |
CDK4 |
c.134G>C |
p.G45A |
Missense |
2/8 |
- |
12-58145370-C-G |
CDK4 |
c.131G>C |
p.G44A |
Missense |
2/8 |
- |
12-58145381-G-A |
CDK4 |
c.120C>T |
p.P40= |
Synonymous |
2/8 |
- |
12-58145384-G-A |
CDK4 |
c.117C>T |
p.V39= |
Synonymous |
2/8 |
- |
11-108205834-A-C |
ATM |
c.8149A>C |
p.K2717Q |
Missense |
55/63 |
- |
17-29490233-A-G |
NF1 |
c.318A>G |
p.E106= |
Synonymous |
4/58 |
- |
17-29490251-G-A |
NF1 |
c.336G>A |
p.Q112= |
Synonymous |
4/58 |
- |
17-29490254-G-A |
NF1 |
c.339G>A |
p.L113= |
Synonymous |
4/58 |
- |
17-29585448-A-G |
NF1 |
c.4260A>G |
p.S1420= |
Synonymous |
32/58 |
- |
17-37618366-T-C |
CDK12 |
c.42T>C |
p.S14= |
Synonymous |
1/14 |
- |
17-37618405-C-T |
CDK12 |
c.81C>T |
p.G27= |
Synonymous |
1/14 |
- |
17-37618414-T-C |
CDK12 |
c.90T>C |
p.S30= |
Synonymous |
1/14 |
- |
17-37618423-A-G |
CDK12 |
c.99A>G |
p.R33= |
Synonymous |
1/14 |
- |
17-37618441-A-G |
CDK12 |
c.117A>G |
p.V39= |
Synonymous |
1/14 |
- |
17-37657561-T-A |
CDK12 |
c.2478T>A |
p.S826= |
Synonymous |
6/14 |
- |
17-37686981-A-T |
CDK12 |
c.3885A>T |
p.P1295= |
Synonymous |
14/14 |
- |
17-37686993-C-T |
CDK12 |
c.3897C>T |
p.A1299= |
Synonymous |
14/14 |
- |
17-29490257-G-A |
NF1 |
c.342G>A |
p.L114= |
Synonymous |
4/58 |
- |
17-29490287-T-C |
NF1 |
c.372T>C |
p.C124= |
Synonymous |
4/58 |
- |
17-29585400-A-C |
NF1 |
c.4212A>C |
p.A1404= |
Synonymous |
32/58 |
- |
17-29585427-T-C |
NF1 |
c.4239T>C |
p.F1413= |
Synonymous |
32/58 |
- |
13-32944741-C-G |
BRCA2 |
c.8487+47C>G |
- |
IntronicSNV |
- |
19/26 |
8-145741413-C-T |
RECQL4 |
c.1090G>A |
p.V364M |
Missense |
5/22 |
- |
14-45645032-T-G |
FANCM |
c.3075T>G |
p.C1025W |
Missense |
14/23 |
- |
8-30938848-A-G |
WRN |
c.1269+36A>G |
- |
IntronicSNV |
- |
9/34 |
3-142281494-G-C |
ATR |
c.750C>G |
p.S250R |
Missense |
4/47 |
- |
12-46233317-G-A |
ARID2 |
c.1498+38G>A |
- |
IntronicSNV |
- |
11/20 |
17-63554595-G-A |
AXIN2 |
c.144C>T |
p.P48= |
Synonymous |
2/11 |
- |
17-33434422-G-A |
RAD51D |
c.308C>T |
p.T103I |
Missense |
4/10 |
- |
8-30921954-G-C |
WRN |
c.355+4G>C |
- |
IntronicSNV |
- |
4/34 |
17-29587544-C-G |
NF1 |
c.4577+11C>G |
- |
IntronicSNV |
- |
34/57 |
17-29679401-A-G |
NF1 |
c.7584A>G |
p.Q2528= |
Synonymous |
51/58 |
- |
7-148526807-G-A |
EZH2 |
c.484+13C>T |
- |
IntronicSNV |
- |
5/19 |
3-41266689-C-T |
CTNNB1 |
c.486C>T |
p.D162= |
Synonymous |
4/15 |
- |
1-27094385-T-A |
ARID1A |
c.3093T>A |
p.T1031= |
Synonymous |
11/20 |
- |
11-94201045-A-C |
MRE11 |
c.1032T>G |
p.L344= |
Synonymous |
10/20 |
- |
12-121437162-C-T |
HNF1A |
c.1593C>T |
p.S531= |
Synonymous |
8/10 |
- |
X-15809095-G-C |
ZRSR2 |
c.80G>C |
p.R27P |
Missense |
2/11 |
- |
19-11135078-C-T |
SMARCA4 |
c.3045C>T |
p.G1015= |
Synonymous |
21/35 |
- |
12-25362783-G-A |
KRAS |
c.513C>T |
p.S171= |
Synonymous |
5/5 |
- |
17-37884060-G-A |
ERBB2 |
c.3531G>A |
p.K1177= |
Synonymous |
27/27 |
- |
3-142204116-G-A |
ATR |
c.6087C>T |
p.T2029= |
Synonymous |
36/47 |
- |
X-15838411-C-T |
ZRSR2 |
c.909C>T |
p.P303= |
Synonymous |
10/11 |
- |
8-31014964-C-A |
WRN |
c.3900C>A |
p.P1300= |
Synonymous |
33/35 |
- |
17-37883791-C-T |
ERBB2 |
c.3403C>T |
p.P1135S |
Missense |
26/27 |
- |
17-79478213-C-A |
ACTG1 |
c.802+1G>T |
- |
IntronicSNV |
- |
4/5 |
17-37871745-C-T |
ERBB2 |
c.1269C>T |
p.S423= |
Synonymous |
11/27 |
- |
16-339499-C-T |
AXIN1 |
c.2403G>A |
p.R801= |
Synonymous |
10/11 |
- |
8-128752694-G-A |
MYC |
c.855G>A |
p.R285= |
Synonymous |
3/3 |
- |
1-11316244-C-G |
MTOR |
c.510G>C |
p.L170= |
Synonymous |
5/58 |
- |
8-48691068-G-A |
PRKDC |
c.11802C>T |
p.G3934G |
synonymous_variant |
84/87 |
- |
3-142269106-T-G |
ATR |
c.2844A>C |
p.A948= |
Synonymous |
14/47 |
- |
17-37881349-C-T |
ERBB2 |
c.2541C>T |
p.A847= |
Synonymous |
21/27 |
- |
12-46240664-T-C |
ARID2 |
c.1524T>C |
p.H508= |
Synonymous |
12/21 |
- |
13-103514609-T-A |
ERCC5 |
c.1110T>A |
p.R370= |
Synonymous |
8/15 |
- |
1-118166331-A-G |
TENT5C |
c.841A>G |
p.I281V |
Missense |
2/2 |
- |
17-47688929-A-G |
SPOP |
c.481-110T>C |
- |
IntronicSNV |
- |
5/9 |
13-49047453-A-G |
RB1 |
c.2490-43A>G |
- |
IntronicSNV |
- |
23/26 |
10-89624340-C-T |
PTEN |
c.79+35C>T |
- |
IntronicSNV |
- |
1/8 |
19-11169381-G-A |
SMARCA4 |
c.4534-83G>A |
- |
IntronicSNV |
- |
31/34 |
19-11169381-G-T |
SMARCA4 |
c.4534-83G>T |
- |
IntronicSNV |
- |
31/34 |
11-94225779-C-CA |
MRE11 |
c.20+168_20+168dup |
- |
IntronicInsertion |
- |
2/19 |
3-37061777-T-A |
MLH1 |
c.885-24T>A |
- |
IntronicSNV |
- |
10/18 |
10-43617536-G-A |
RET |
c.2801+72G>A |
- |
IntronicSNV |
- |
16/19 |
3-10119937-G-A |
FANCD2 |
c.2976+56G>A |
- |
IntronicSNV |
- |
30/43 |
12-56480474-C-A |
ERBB3 |
c.547+34C>A |
- |
IntronicSNV |
- |
4/27 |
12-56480474-C-T |
ERBB3 |
c.547+34C>T |
- |
IntronicSNV |
- |
4/27 |
15-91308514-G-T |
BLM |
c.2075-12G>T |
- |
IntronicSNV |
- |
8/21 |
14-45624688-G-A |
FANCM |
c.1396+26G>A |
- |
IntronicSNV |
- |
8/22 |
19-11151970-A-G |
SMARCA4 |
c.4171-13A>G |
- |
IntronicSNV |
- |
29/34 |
16-89866075-T-C |
FANCA |
c.793-29A>G |
- |
IntronicSNV |
- |
8/42 |
16-89866075-T-G |
FANCA |
c.793-29A>C |
- |
IntronicSNV |
- |
8/42 |
2-47604148-T-C |
EPCAM |
c.492-5T>C |
- |
IntronicSNV |
- |
4/8 |
17-12043055-G-C |
MAP2K4 |
c.1041-101G>C |
- |
IntronicSNV |
- |
9/10 |
3-142268274-A-G |
ATR |
c.3171+47T>C |
- |
IntronicSNV |
- |
15/46 |
16-2132583-G-A |
TSC2 |
c.3883+78G>A |
- |
IntronicSNV |
- |
32/41 |
2-47702102-G-A |
MSH2 |
c.1760-62G>A |
- |
IntronicSNV |
- |
11/15 |
17-63534502-A-G |
AXIN2 |
c.1060-41T>C |
- |
IntronicSNV |
- |
4/10 |
1-11316023-T-C |
MTOR |
c.705+26A>G |
- |
IntronicSNV |
- |
5/57 |
17-47685214-A-G |
SPOP |
c.714+22T>C |
- |
IntronicSNV |
- |
7/9 |
5-80024608-A-G |
MSH3 |
c.1454-62A>G |
- |
IntronicSNV |
- |
9/23 |
22-24135703-A-G |
SMARCB1 |
c.233-43A>G |
- |
IntronicSNV |
- |
2/8 |
22-24135703-A-T |
SMARCB1 |
c.233-43A>T |
- |
IntronicSNV |
- |
2/8 |
1-11319566-T-C |
MTOR |
c.1-100A>G |
- |
IntronicSNV |
- |
1/57 |
3-142268277-C-T |
ATR |
c.3171+44G>A |
- |
IntronicSNV |
- |
15/46 |
19-11170577-G-A |
SMARCA4 |
c.4768+16G>A |
- |
IntronicSNV |
- |
33/34 |
3-142243089-G-C |
ATR |
c.3946-48C>G |
- |
IntronicSNV |
- |
21/46 |
3-142243089-G-T |
ATR |
c.3946-48C>A |
- |
IntronicSNV |
- |
21/46 |
1-11175404-A-G |
MTOR |
c.7089+49T>C |
- |
IntronicSNV |
- |
51/57 |
19-11107295-G-A |
SMARCA4 |
c.1812+75G>A |
- |
IntronicSNV |
- |
11/34 |
17-56770266-T-C |
RAD51C |
c.145+117T>C |
- |
IntronicSNV |
- |
1/8 |
19-11170677-A-C |
SMARCA4 |
c.4769-44A>C |
- |
IntronicSNV |
- |
33/34 |
19-11170677-A-G |
SMARCA4 |
c.4769-44A>G |
- |
IntronicSNV |
- |
33/34 |
10-43612225-G-A |
RET |
c.2284+46G>A |
- |
IntronicSNV |
- |
12/19 |
10-43612225-G-T |
RET |
c.2284+46G>T |
- |
IntronicSNV |
- |
12/19 |
7-116409950-T-C |
MET |
c.2730+105T>C |
- |
IntronicSNV |
- |
12/20 |
15-89843456-A-G |
FANCI |
c.2804-75A>G |
- |
IntronicSNV |
- |
25/37 |
9-139408952-C-T |
NOTCH1 |
c.2207+10G>A |
- |
IntronicSNV |
- |
13/33 |
12-121434302-G-T |
HNF1A |
c.1108-42G>T |
- |
IntronicSNV |
- |
5/9 |
1-120459433-G-A |
NOTCH2 |
c.6028-116C>T |
- |
IntronicSNV |
- |
33/33 |
3-178939018-T-C |
PIK3CA |
c.2187+73T>C |
- |
IntronicSNV |
- |
14/20 |
1-120467876-G-A |
NOTCH2 |
c.4511+52C>T |
- |
IntronicSNV |
- |
25/33 |
5-56152603-T-C |
MAP3K1 |
c.633+26T>C |
- |
IntronicSNV |
- |
2/19 |
5-67569342-T-C |
PIK3R1 |
c.427+32T>C |
- |
IntronicSNV |
- |
3/15 |
3-10109060-C-G |
FANCD2 |
c.2494+59C>G |
- |
IntronicSNV |
- |
26/43 |
5-67593432-C-A |
PIK3R1 |
c.*3C>A |
- |
3-UTRSNV |
16/16 |
- |
5-67593432-C-T |
PIK3R1 |
c.*3C>T |
- |
3-UTRSNV |
16/16 |
- |
11-94169154-C-T |
MRE11 |
c.1927-89G>A |
- |
IntronicSNV |
- |
17/19 |
20-36031055-C-T |
SRC |
c.1270+64C>T |
- |
IntronicSNV |
- |
12/13 |
14-75489756-G-A |
MLH3 |
c.3988-35C>T |
- |
IntronicSNV |
- |
9/12 |
2-215661710-T-C |
BARD1 |
c.215+75A>G |
- |
IntronicSNV |
- |
2/10 |
22-29108082-29108083---TATTAGAATTTACAGACATTCCA |
CHEK2 |
c.684-100_684-78dup |
- |
intron_variant |
- |
5/14 |
13-48953830-G-A |
RB1 |
c.1389+44G>A |
- |
IntronicSNV |
- |
14/26 |
1-45799988-C-T |
MUTYH |
c.115+75G>A |
- |
IntronicSNV |
- |
2/15 |
19-11095067-C-T |
SMARCA4 |
c.222+18C>T |
- |
IntronicSNV |
- |
2/34 |
1-45797548-C-T |
MUTYH |
c.914-27G>A |
- |
IntronicSNV |
- |
11/15 |
15-66679819-G-A |
MAP2K1 |
c.80+54G>A |
- |
IntronicSNV |
- |
1/10 |
15-66679819-G-C |
MAP2K1 |
c.80+54G>C |
- |
IntronicSNV |
- |
1/10 |
1-120509989-G-C |
NOTCH2 |
c.1453+67C>G |
- |
IntronicSNV |
- |
8/33 |
13-103515561-C-G |
ERCC5 |
c.1954+108C>G |
- |
IntronicSNV |
- |
8/14 |
13-103515561-C-T |
ERCC5 |
c.1954+108C>T |
- |
IntronicSNV |
- |
8/14 |
11-108150352-T-A |
ATM |
c.3402+17T>A |
- |
IntronicSNV |
- |
23/62 |
11-108150352-T-C |
ATM |
c.3402+17T>C |
- |
IntronicSNV |
- |
23/62 |
11-108115478-C-G |
ATM |
c.663-37C>G |
- |
IntronicSNV |
- |
6/62 |
11-108115478-C-T |
ATM |
c.663-37C>T |
- |
IntronicSNV |
- |
6/62 |
14-35871922-C-T |
NFKBIA |
c.637-53G>A |
- |
IntronicSNV |
- |
4/5 |
1-11276341-C-A |
MTOR |
c.3031-50G>T |
- |
IntronicSNV |
- |
19/57 |
1-11276341-C-T |
MTOR |
c.3031-50G>A |
- |
IntronicSNV |
- |
19/57 |
19-11130195-G-A |
SMARCA4 |
c.2506-72G>A |
- |
IntronicSNV |
- |
17/34 |
15-66679684-A-C |
MAP2K1 |
c.1-2A>C |
- |
5-UTRSNV |
1/11 |
- |
15-66679684-A-G |
MAP2K1 |
c.1-2A>G |
- |
5-UTRSNV |
1/11 |
- |
1-11188882-C-A |
MTOR |
c.5811+30G>T |
- |
IntronicSNV |
- |
41/57 |
1-11188882-C-T |
MTOR |
c.5811+30G>A |
- |
IntronicSNV |
- |
41/57 |
9-21968712-C-A |
CDKN2A |
c.458-471G>T |
- |
IntronicSNV |
- |
2/2 |
14-75497239-G-A |
MLH3 |
c.3987+7C>T |
- |
IntronicSNV |
- |
9/12 |
14-75497239-G-T |
MLH3 |
c.3987+7C>A |
- |
IntronicSNV |
- |
9/12 |
1-120468487-T-C |
NOTCH2 |
c.4006-54A>G |
- |
IntronicSNV |
- |
24/33 |
11-108126874-T-C |
ATM |
c.2125-68T>C |
- |
IntronicSNV |
- |
13/62 |
1-11199518-T-C |
MTOR |
c.4999-26A>G |
- |
IntronicSNV |
- |
35/57 |
22-24167657-G-GAA |
SMARCB1 |
c.986+57_986+58dup |
- |
IntronicInsertion |
- |
7/8 |
1-11300338-A-G |
MTOR |
c.1786+22T>C |
- |
IntronicSNV |
- |
11/57 |
1-11303146-G-A |
MTOR |
c.1412+25C>T |
- |
IntronicSNV |
- |
9/57 |
1-11199541-G-A |
MTOR |
c.4998+49C>T |
- |
IntronicSNV |
- |
35/57 |
14-104169706-C-T |
XRCC3 |
c.407-42G>A |
- |
IntronicSNV |
- |
6/9 |
1-11298739-T-C |
MTOR |
c.1787-65A>G |
- |
IntronicSNV |
- |
11/57 |
17-47679209-T-C |
SPOP |
c.980+18A>G |
- |
IntronicSNV |
- |
9/9 |
X-76907571-C-T |
ATRX |
c.4557+33G>A |
- |
IntronicSNV |
- |
15/34 |
19-4102586-G-A |
MAP2K2 |
c.451-135C>T |
- |
IntronicSNV |
- |
3/10 |
1-11194591-G-A |
MTOR |
c.5131-68C>T |
- |
IntronicSNV |
- |
36/57 |
5-56176498-C-G |
MAP3K1 |
c.2088-40C>G |
- |
IntronicSNV |
- |
11/19 |
19-40741694-C-T |
AKT2 |
c.1175+103G>A |
- |
IntronicSNV |
- |
11/13 |
2-212522450-C-T |
ERBB4 |
c.1946+29G>A |
- |
IntronicSNV |
- |
16/27 |
2-215595069-T-G |
BARD1 |
c.2001+66A>C |
- |
IntronicSNV |
- |
10/10 |
8-48803086-C-T |
PRKDC |
c.3845-45G>A |
- |
intron_variant |
- |
32/86 |
8-48801554-G-A |
PRKDC |
c.4277+21C>T |
- |
intron_variant |
- |
34/86 |
8-48801554-G-T |
PRKDC |
c.4277+21C>A |
- |
intron_variant |
- |
34/86 |
5-131915279-A-G |
RAD50 |
c.551+85A>G |
- |
IntronicSNV |
- |
4/24 |
1-11193072-G-A |
MTOR |
c.5364+65C>T |
- |
IntronicSNV |
- |
38/57 |
2-47703717-G-A |
MSH2 |
c.2210+7G>A |
- |
IntronicSNV |
- |
13/15 |
12-46285934-C-T |
ARID2 |
c.5147+55C>T |
- |
IntronicSNV |
- |
18/20 |
19-11136006-A-C |
SMARCA4 |
c.3082-92A>C |
- |
IntronicSNV |
- |
21/34 |
19-11136006-A-G |
SMARCA4 |
c.3082-92A>G |
- |
IntronicSNV |
- |
21/34 |
19-11136006-A-T |
SMARCA4 |
c.3082-92A>T |
- |
IntronicSNV |
- |
21/34 |
2-212248283-G-A |
ERBB4 |
c.*57C>T |
- |
3-UTRSNV |
28/28 |
- |
2-212248283-G-T |
ERBB4 |
c.*57C>A |
- |
3-UTRSNV |
28/28 |
- |
2-47600591-T-A |
EPCAM |
c.77-11T>A |
- |
IntronicSNV |
- |
1/8 |
2-47600591-T-C |
EPCAM |
c.77-11T>C |
- |
IntronicSNV |
- |
1/8 |
17-12032636-G-A |
MAP2K4 |
c.1040+32G>A |
- |
IntronicSNV |
- |
9/10 |
17-12032636-G-C |
MAP2K4 |
c.1040+32G>C |
- |
IntronicSNV |
- |
9/10 |
17-12032636-G-T |
MAP2K4 |
c.1040+32G>T |
- |
IntronicSNV |
- |
9/10 |
4-55161478-C-T |
PDGFRA |
c.*39C>T |
- |
3-UTRSNV |
23/23 |
- |
11-108198551-G-T |
ATM |
c.7089+66G>T |
- |
IntronicSNV |
- |
48/62 |
3-10191448-G-T |
VHL |
c.464-23G>T |
- |
IntronicSNV |
- |
2/2 |
19-40748648-C-T |
AKT2 |
c.288-54G>A |
- |
IntronicSNV |
- |
4/13 |
5-56178718-T-C |
MAP3K1 |
c.3666+25T>C |
- |
IntronicSNV |
- |
14/19 |
7-55223489-C-T |
EGFR |
c.890-34C>T |
- |
IntronicSNV |
- |
7/27 |
13-103514350-A-G |
ERCC5 |
c.881-30A>G |
- |
IntronicSNV |
- |
7/14 |
12-46298877-A-C |
ARID2 |
c.*16A>C |
- |
3-UTRSNV |
21/21 |
- |
2-39478932-C-T |
MAP4K3 |
c.2597+39G>A |
- |
IntronicSNV |
- |
33/33 |
1-11169863-C-T |
MTOR |
c.7367-77G>A |
- |
IntronicSNV |
- |
54/57 |
11-47259771-C-G |
DDB2 |
c.1234+37C>G |
- |
IntronicSNV |
- |
9/9 |
11-47259771-C-T |
DDB2 |
c.1234+37C>T |
- |
IntronicSNV |
- |
9/9 |
X-76888654-T-A |
ATRX |
c.5134+41A>T |
- |
IntronicSNV |
- |
19/34 |
X-76888654-T-C |
ATRX |
c.5134+41A>G |
- |
IntronicSNV |
- |
19/34 |
9-139402404-C-G |
NOTCH1 |
c.3510+3G>C |
- |
IntronicSNV |
- |
21/33 |
9-139402404-C-T |
NOTCH1 |
c.3510+3G>A |
- |
IntronicSNV |
- |
21/33 |
7-116335828-G-A |
MET |
c.1-3311G>A |
- |
IntronicSNV |
- |
1/20 |
7-116335828-G-C |
MET |
c.1-3311G>C |
- |
IntronicSNV |
- |
1/20 |
19-1223734-G-A |
STK11 |
c.1108+563G>A |
- |
IntronicSNV |
- |
8/9 |
19-45855057-C-CA |
ERCC2 |
c.2191-79_2191-78insT |
- |
IntronicInsertion |
- |
22/22 |
7-116380189-A-G |
MET |
c.1527+51A>G |
- |
IntronicSNV |
- |
4/20 |
8-48710970-A-G |
PRKDC |
c.10295-12T>C |
- |
splice_polypyrimidine_tract_variant,intron_variant |
- |
73/86 |
9-139402888-G-A |
NOTCH1 |
c.3172-51C>T |
- |
IntronicSNV |
- |
19/33 |
8-30969396-C-T |
WRN |
c.2273+81C>T |
- |
IntronicSNV |
- |
19/34 |
19-4110478-G-A |
MAP2K2 |
c.450+29C>T |
- |
IntronicSNV |
- |
3/10 |
8-48847705-T-G |
PRKDC |
c.1448-87A>C |
- |
IntronicSNV |
- |
13/86 |
19-40741306-G-A |
AKT2 |
c.1176-49C>T |
- |
IntronicSNV |
- |
11/13 |
19-40741306-G-C |
AKT2 |
c.1176-49C>G |
- |
IntronicSNV |
- |
11/13 |
2-47657131-C-A |
MSH2 |
c.1276+51C>A |
- |
IntronicSNV |
- |
7/15 |
2-47657131-C-G |
MSH2 |
c.1276+51C>G |
- |
IntronicSNV |
- |
7/15 |
16-14027959-T-C |
ERCC4 |
c.1103-90T>C |
- |
IntronicSNV |
- |
6/10 |
14-68758552-T-C |
RAD51B |
c.757-49T>C |
- |
IntronicSNV |
- |
7/10 |
3-37070188-T-C |
MLH1 |
c.1410-87T>C |
- |
IntronicSNV |
- |
12/18 |
3-37070188-T-G |
MLH1 |
c.1410-87T>G |
- |
IntronicSNV |
- |
12/18 |
3-37053487-C-T |
MLH1 |
c.589-15C>T |
- |
IntronicSNV |
- |
7/18 |
8-145740510-C-G |
RECQL4 |
c.1483+24G>C |
- |
IntronicSNV |
- |
8/21 |
8-145740510-C-T |
RECQL4 |
c.1483+24G>A |
- |
IntronicSNV |
- |
8/21 |
3-142286833-C-T |
ATR |
c.151+72G>A |
- |
IntronicSNV |
- |
2/46 |
1-156849775-T-C |
NTRK1 |
c.2047-16T>C |
- |
IntronicSNV |
- |
15/16 |
3-142259898-C-G |
ATR |
c.3451-22G>C |
- |
IntronicSNV |
- |
17/46 |
2-47612298-C-T |
EPCAM |
c.859-7C>T |
- |
IntronicSNV |
- |
7/8 |
1-65309980-G-A |
JAK1 |
c.2252-82C>T |
- |
IntronicSNV |
- |
16/24 |
8-48690186-A-G |
PRKDC |
c.12039+61T>C |
- |
intron_variant |
- |
85/86 |
8-145737490-G-A |
RECQL4 |
c.3236+37C>T |
- |
intron_variant |
- |
19/21 |
2-29450605-G-A |
ALK |
c.2816-67C>T |
- |
IntronicSNV |
- |
16/28 |
9-97869554-G-A |
FANCC |
c.1330-3C>T |
- |
IntronicSNV |
- |
13/14 |
14-75498727-G-A |
MLH3 |
c.3827+44C>T |
- |
IntronicSNV |
- |
8/12 |
5-131924329-C-T |
RAD50 |
c.1052-50C>T |
- |
IntronicSNV |
- |
7/24 |
8-90993150-C-G |
NBN |
c.321-29G>C |
- |
IntronicSNV |
- |
3/15 |
8-90993150-C-T |
NBN |
c.321-29G>A |
- |
IntronicSNV |
- |
3/15 |
7-55249190-T-C |
EGFR |
c.2469+19T>C |
- |
IntronicSNV |
- |
20/27 |
14-75485519-G-A |
MLH3 |
c.4242+13C>T |
- |
IntronicSNV |
- |
12/12 |
14-75485519-G-C |
MLH3 |
c.4242+13C>G |
- |
IntronicSNV |
- |
12/12 |
16-89859059-C-G |
FANCA |
c.1007-104G>C |
- |
IntronicSNV |
- |
11/42 |
16-89859059-C-T |
FANCA |
c.1007-104G>A |
- |
IntronicSNV |
- |
11/42 |
19-11134321-G-A |
SMARCA4 |
c.2973+14G>A |
- |
IntronicSNV |
- |
20/34 |
8-90976799-T-C |
NBN |
c.897-64A>G |
- |
IntronicSNV |
- |
7/15 |
16-89813388-G-A |
FANCA |
c.3349-90C>T |
- |
IntronicSNV |
- |
33/42 |
15-89850922-G-A |
FANCI |
c.3651+19G>A |
- |
IntronicSNV |
- |
34/37 |
15-89857966-A-G |
FANCI |
c.3816+28A>G |
- |
IntronicSNV |
- |
36/37 |
8-48773432-C-T |
PRKDC |
c.6055+28G>A |
- |
intron_variant |
- |
46/86 |
10-43602066-G-A |
RET |
c.1063+47G>A |
- |
IntronicSNV |
- |
5/19 |
3-142280321-T-G |
ATR |
c.1171-58A>C |
- |
IntronicSNV |
- |
4/46 |
15-91347384-C-G |
BLM |
c.3559-13C>G |
- |
IntronicSNV |
- |
18/21 |
19-11145825-C-A |
SMARCA4 |
c.4170+17C>A |
- |
IntronicSNV |
- |
29/34 |
19-11145825-C-T |
SMARCA4 |
c.4170+17C>T |
- |
IntronicSNV |
- |
29/34 |
2-215632164-A-G |
BARD1 |
c.1568+42T>C |
- |
IntronicSNV |
- |
6/10 |
22-24175942-A-G |
SMARCB1 |
c.1118+52A>G |
- |
IntronicSNV |
- |
8/8 |
16-347257-G-C |
AXIN1 |
c.1785-31C>G |
- |
IntronicSNV |
- |
6/10 |
16-347257-G-T |
AXIN1 |
c.1785-31C>A |
- |
IntronicSNV |
- |
6/10 |
11-108155240-G-A |
ATM |
c.3993+40G>A |
- |
IntronicSNV |
- |
26/62 |
11-108155240-G-T |
ATM |
c.3993+40G>T |
- |
IntronicSNV |
- |
26/62 |
14-75485504-C-G |
MLH3 |
c.4242+28G>C |
- |
IntronicSNV |
- |
12/12 |
14-75485504-C-T |
MLH3 |
c.4242+28G>A |
- |
IntronicSNV |
- |
12/12 |
3-142203933-T-C |
ATR |
c.6221+49A>G |
- |
IntronicSNV |
- |
36/46 |
1-11293642-A-G |
MTOR |
c.2332-98T>C |
- |
IntronicSNV |
- |
14/57 |
1-2489286-C-G |
TNFRSF14 |
c.178+13C>G |
- |
IntronicSNV |
- |
2/7 |
19-11143955-T-C |
SMARCA4 |
c.3547-11T>C |
- |
IntronicSNV |
- |
25/34 |
3-142183893-A-G |
ATR |
c.7041+46T>C |
- |
IntronicSNV |
- |
41/46 |
3-142183893-A-T |
ATR |
c.7041+46T>A |
- |
IntronicSNV |
- |
41/46 |
4-1800914-C-T |
FGFR3 |
c.110-67C>T |
- |
IntronicSNV |
- |
2/17 |
8-90958547-G-A |
NBN |
c.1915-24C>T |
- |
IntronicSNV |
- |
12/15 |
3-10142841-A-G |
FANCD2 |
c.4282-31A>G |
- |
IntronicSNV |
- |
43/43 |
19-4117399-C-T |
MAP2K2 |
c.303+18G>A |
- |
IntronicSNV |
- |
2/10 |
11-32450234-C-CA |
WT1 |
c.647-70dupT |
- |
IntronicInsertion |
- |
1/9 |
11-32450235-A-AT |
WT1 |
c.647-71_647-70insA |
- |
IntronicInsertion |
- |
1/9 |
15-40502415-G-C |
BUB1B |
c.2385+4G>C |
- |
IntronicSNV |
- |
18/22 |
8-145737211-G-A |
RECQL4 |
c.3394-39C>T |
- |
intron_variant |
- |
20/21 |
8-145737211-G-T |
RECQL4 |
c.3394-39C>A |
- |
intron_variant |
- |
20/21 |
17-12016539-A-G |
MAP2K4 |
c.686-11A>G |
- |
IntronicSNV |
- |
6/10 |
22-24135938-A-G |
SMARCB1 |
c.362+63A>G |
- |
IntronicSNV |
- |
3/8 |
16-2124421-C-T |
TSC2 |
c.2545+31C>T |
- |
IntronicSNV |
- |
22/41 |
3-10084396-A-G |
FANCD2 |
c.888+49A>G |
- |
IntronicSNV |
- |
11/43 |
3-10084396-A-T |
FANCD2 |
c.888+49A>T |
- |
IntronicSNV |
- |
11/43 |
12-121426888-C-G |
HNF1A |
c.526+53C>G |
- |
IntronicSNV |
- |
2/9 |
3-142234404-T-C |
ATR |
c.4383-47A>G |
- |
IntronicSNV |
- |
24/46 |
2-212488632-T-C |
ERBB4 |
c.2202+15A>G |
- |
IntronicSNV |
- |
18/27 |
9-139402380-A-C |
NOTCH1 |
c.3510+27T>G |
- |
IntronicSNV |
- |
21/33 |
9-139402380-A-G |
NOTCH1 |
c.3510+27T>C |
- |
IntronicSNV |
- |
21/33 |
1-11291168-A-G |
MTOR |
c.2650-57T>C |
- |
IntronicSNV |
- |
17/57 |
19-1218384-C-T |
STK11 |
c.291-32C>T |
- |
IntronicSNV |
- |
1/9 |
10-123279710-A-G |
FGFR2 |
c.749-27T>C |
- |
IntronicSNV |
- |
6/17 |
12-121434597-C-G |
HNF1A |
c.1309+52C>G |
- |
IntronicSNV |
- |
6/9 |
12-121434597-C-T |
HNF1A |
c.1309+52C>T |
- |
IntronicSNV |
- |
6/9 |
11-108115778-T-G |
ATM |
c.901+25T>G |
- |
IntronicSNV |
- |
7/62 |
16-2138637-G-A |
TSC2 |
c.*26G>A |
- |
3-UTRSNV |
42/42 |
- |
16-2138637-G-C |
TSC2 |
c.*26G>C |
- |
3-UTRSNV |
42/42 |
- |
3-14207101-G-A |
XPC |
c.622-16C>T |
- |
IntronicSNV |
- |
5/15 |
3-14207101-G-C |
XPC |
c.622-16C>G |
- |
IntronicSNV |
- |
5/15 |
17-29685479-G-A |
NF1 |
c.7971-19G>A |
- |
IntronicSNV |
- |
54/57 |
17-29685479-G-T |
NF1 |
c.7971-19G>T |
- |
IntronicSNV |
- |
54/57 |
5-112136947-A-T |
APC |
c.730-29A>T |
- |
IntronicSNV |
- |
7/15 |
1-156836838-T-C |
NTRK1 |
c.428+68T>C |
- |
IntronicSNV |
- |
4/16 |
3-142257306-T-C |
ATR |
c.3725+18A>G |
- |
IntronicSNV |
- |
19/46 |
3-142217657-G-A |
ATR |
c.5381-41C>T |
- |
IntronicSNV |
- |
31/46 |
3-142217657-G-T |
ATR |
c.5381-41C>A |
- |
IntronicSNV |
- |
31/46 |
8-48824965-C-G |
PRKDC |
c.2934+5G>C |
- |
IntronicSNV |
- |
25/86 |
8-48824965-C-T |
PRKDC |
c.2934+5G>A |
- |
IntronicSNV |
- |
25/86 |
9-97912175-G-A |
FANCC |
c.686+30C>T |
- |
IntronicSNV |
- |
7/14 |
19-45855061-C-A |
ERCC2 |
c.2191-82G>T |
- |
IntronicSNV |
- |
22/22 |
19-45855061-C-G |
ERCC2 |
c.2191-82G>C |
- |
IntronicSNV |
- |
22/22 |
19-45855061-C-T |
ERCC2 |
c.2191-82G>A |
- |
IntronicSNV |
- |
22/22 |
13-49047417-A-G |
RB1 |
c.2490-79A>G |
- |
IntronicSNV |
- |
23/26 |
3-178928435-A-G |
PIK3CA |
c.1539+82A>G |
- |
IntronicSNV |
- |
9/20 |
14-68352560-G-A |
RAD51B |
c.453-26G>A |
- |
IntronicSNV |
- |
5/10 |
9-97863947-C-G |
FANCC |
c.*42G>C |
- |
3-UTRSNV |
15/15 |
- |
9-97863947-C-T |
FANCC |
c.*42G>A |
- |
3-UTRSNV |
15/15 |
- |
X-76855073-C-A |
ATRX |
c.5787-24G>T |
- |
IntronicSNV |
- |
24/34 |
X-76855073-C-G |
ATRX |
c.5787-24G>C |
- |
IntronicSNV |
- |
24/34 |
X-76855073-C-T |
ATRX |
c.5787-24G>A |
- |
IntronicSNV |
- |
24/34 |
19-4110467-G-A |
MAP2K2 |
c.450+40C>T |
- |
IntronicSNV |
- |
3/10 |
17-33444011-G-A |
RAD51D |
c.263+1509C>T |
- |
IntronicSNV |
- |
3/9 |
16-339385-C-T |
AXIN1 |
c.2462+55G>A |
- |
IntronicSNV |
- |
10/10 |
17-33445470-A-C |
RAD51D |
c.263+50T>G |
- |
IntronicSNV |
- |
3/9 |
3-37070221-C-T |
MLH1 |
c.1410-54C>T |
- |
IntronicSNV |
- |
12/18 |
2-47702460-T-C |
MSH2 |
c.2005+51T>C |
- |
IntronicSNV |
- |
12/15 |
2-47702460-T-G |
MSH2 |
c.2005+51T>G |
- |
IntronicSNV |
- |
12/15 |
20-36014631-C-T |
SRC |
c.350+54C>T |
- |
IntronicSNV |
- |
5/13 |
14-68878138-C-T |
RAD51B |
c.854-3C>T |
- |
IntronicSNV |
- |
8/10 |
19-4090712-A-G |
MAP2K2 |
c.1093-6T>C |
- |
IntronicSNV |
- |
10/10 |
16-341385-G-A |
AXIN1 |
c.2187-88C>T |
- |
IntronicSNV |
- |
8/10 |
16-341385-G-T |
AXIN1 |
c.2187-88C>A |
- |
IntronicSNV |
- |
8/10 |
14-68758518-T-C |
RAD51B |
c.757-83T>C |
- |
IntronicSNV |
- |
7/10 |
8-48715854-G-A |
PRKDC |
c.9919+13C>T |
- |
intron_variant |
- |
71/86 |
19-4101170-C-T |
MAP2K2 |
c.581-29G>A |
- |
IntronicSNV |
- |
5/10 |
14-75497231-G-A |
MLH3 |
c.3987+15C>T |
- |
IntronicSNV |
- |
9/12 |
2-212652908-A-T |
ERBB4 |
c.422-24T>A |
- |
IntronicSNV |
- |
3/27 |
17-37866524-T-A |
ERBB2 |
c.760-69T>A |
- |
IntronicSNV |
- |
6/26 |
1-11288661-C-G |
MTOR |
c.3030+64G>C |
- |
IntronicSNV |
- |
19/57 |
X-76856074-A-G |
ATRX |
c.5567-41T>C |
- |
IntronicSNV |
- |
22/34 |
14-68301764-G-T |
RAD51B |
c.199-33G>T |
- |
IntronicSNV |
- |
3/10 |
4-55161490-G-A |
PDGFRA |
c.*51G>A |
- |
3-UTRSNV |
23/23 |
- |
12-56489394-A-G |
ERBB3 |
c.1914-55A>G |
- |
IntronicSNV |
- |
16/27 |
3-142281994-C-G |
ATR |
c.293-43G>C |
- |
IntronicSNV |
- |
3/46 |
3-142281994-C-T |
ATR |
c.293-43G>A |
- |
IntronicSNV |
- |
3/46 |
8-30933878-A-G |
WRN |
c.839+75A>G |
- |
IntronicSNV |
- |
8/34 |
19-4101305-G-A |
MAP2K2 |
c.529-27C>T |
- |
IntronicSNV |
- |
4/10 |
19-4101305-G-T |
MAP2K2 |
c.529-27C>A |
- |
IntronicSNV |
- |
4/10 |
14-75508248-T-C |
MLH3 |
c.3465+70A>G |
- |
IntronicSNV |
- |
4/12 |
16-2138682-C-A |
TSC2 |
c.*71C>A |
- |
3-UTRSNV |
42/42 |
- |
16-2138682-C-T |
TSC2 |
c.*71C>T |
- |
3-UTRSNV |
42/42 |
- |
19-11097709-C-A |
SMARCA4 |
c.859+30C>A |
- |
IntronicSNV |
- |
5/34 |
19-11097709-C-T |
SMARCA4 |
c.859+30C>T |
- |
IntronicSNV |
- |
5/34 |
14-75489462-C-G |
MLH3 |
c.4090+55G>C |
- |
IntronicSNV |
- |
11/12 |
5-56176645-T-C |
MAP3K1 |
c.2179+16T>C |
- |
IntronicSNV |
- |
12/19 |
2-29443726-C-G |
ALK |
c.3516-25G>C |
- |
IntronicSNV |
- |
22/28 |
1-120459358-T-C |
NOTCH2 |
c.6028-41A>G |
- |
IntronicSNV |
- |
33/33 |
11-108170373-T-C |
ATM |
c.5006-68T>C |
- |
IntronicSNV |
- |
33/62 |
11-108170373-T-G |
ATM |
c.5006-68T>G |
- |
IntronicSNV |
- |
33/62 |
3-178948196-A-G |
PIK3CA |
c.2936+32A>G |
- |
IntronicSNV |
- |
20/20 |
9-139402658-C-T |
NOTCH1 |
c.3325+26G>A |
- |
IntronicSNV |
- |
20/33 |
8-145738213-145738214---A |
RECQL4 |
c.2755+16dup |
- |
intron_variant |
- |
16/21 |
4-1808523-G-A |
FGFR3 |
c.2169-33G>A |
- |
IntronicSNV |
- |
16/17 |
4-1808523-G-T |
FGFR3 |
c.2169-33G>T |
- |
IntronicSNV |
- |
16/17 |
10-123245077-T-C |
FGFR2 |
c.2058-31A>G |
- |
IntronicSNV |
- |
15/17 |
15-89806601-T-A |
FANCI |
c.504-49T>A |
- |
IntronicSNV |
- |
6/37 |
3-41265551-G-C |
CTNNB1 |
c.1-9G>C |
- |
5-UTRSNV |
2/15 |
- |
15-66679798-C-A |
MAP2K1 |
c.80+33C>A |
- |
IntronicSNV |
- |
1/10 |
15-66679798-C-G |
MAP2K1 |
c.80+33C>G |
- |
IntronicSNV |
- |
1/10 |
8-145736791-C-T |
RECQL4 |
c.*23G>A |
- |
3_prime_UTR_variant |
22/22 |
- |
3-37048579-A-C |
MLH1 |
c.453+25A>C |
- |
IntronicSNV |
- |
5/18 |
3-37048579-A-G |
MLH1 |
c.453+25A>G |
- |
IntronicSNV |
- |
5/18 |
7-148506293-G-A |
EZH2 |
c.2111-46C>T |
- |
IntronicSNV |
- |
18/19 |
1-11293577-G-A |
MTOR |
c.2332-33C>T |
- |
IntronicSNV |
- |
14/57 |
2-215661911-A-C |
BARD1 |
c.159-70T>G |
- |
IntronicSNV |
- |
1/10 |
17-29545977-C-A |
NF1 |
c.1528-46C>A |
- |
IntronicSNV |
- |
13/57 |
17-29545977-C-T |
NF1 |
c.1528-46C>T |
- |
IntronicSNV |
- |
13/57 |
3-10184613-G-T |
VHL |
c.340+742G>T |
- |
IntronicSNV |
- |
1/2 |
16-2138177-C-G |
TSC2 |
c.5160+37C>G |
- |
IntronicSNV |
- |
40/41 |
16-2138177-C-T |
TSC2 |
c.5160+37C>T |
- |
IntronicSNV |
- |
40/41 |
3-37045863-C-A |
MLH1 |
c.307-29C>A |
- |
IntronicSNV |
- |
3/18 |
3-37045863-C-G |
MLH1 |
c.307-29C>G |
- |
IntronicSNV |
- |
3/18 |
11-125513857-G-A |
CHEK1 |
c.923+62G>A |
- |
IntronicSNV |
- |
9/12 |
11-125513857-G-T |
CHEK1 |
c.923+62G>T |
- |
IntronicSNV |
- |
9/12 |
6-35420577-C-A |
FANCE |
c.248+7C>A |
- |
IntronicSNV |
- |
1/9 |
19-45872122-C-A |
ERCC2 |
c.246+66G>T |
- |
IntronicSNV |
- |
4/22 |
19-45872122-C-T |
ERCC2 |
c.246+66G>A |
- |
IntronicSNV |
- |
4/22 |
22-24143292-C-G |
SMARCB1 |
c.500+24C>G |
- |
IntronicSNV |
- |
4/8 |
12-56489613-T-C |
ERBB3 |
c.2055+23T>C |
- |
IntronicSNV |
- |
17/27 |
15-89806601-T-C |
FANCI |
c.504-49T>C |
- |
IntronicSNV |
- |
6/37 |
5-131924356-T-C |
RAD50 |
c.1052-23T>C |
- |
IntronicSNV |
- |
7/24 |
8-31004843-C-T |
WRN |
c.3460-37C>T |
- |
IntronicSNV |
- |
29/34 |
19-11118558-A-C |
SMARCA4 |
c.2002-20A>C |
- |
IntronicSNV |
- |
13/34 |
19-11118558-A-G |
SMARCA4 |
c.2002-20A>G |
- |
IntronicSNV |
- |
13/34 |
7-140477894-T-C |
BRAF |
c.1433-19A>G |
- |
IntronicSNV |
- |
11/17 |
11-108139364-T-TA |
ATM |
c.2838+28_2838+29insA |
- |
IntronicInsertion |
- |
18/62 |
16-2133679-C-A |
TSC2 |
c.3884-17C>A |
- |
IntronicSNV |
- |
32/41 |
16-2133679-C-G |
TSC2 |
c.3884-17C>G |
- |
IntronicSNV |
- |
32/41 |
16-2133679-C-T |
TSC2 |
c.3884-17C>T |
- |
IntronicSNV |
- |
32/41 |
12-56491740-G-A |
ERBB3 |
c.2616+16G>A |
- |
IntronicSNV |
- |
21/27 |
16-89815027-A-G |
FANCA |
c.3348+40T>C |
- |
IntronicSNV |
- |
33/42 |
16-89815027-A-T |
FANCA |
c.3348+40T>A |
- |
IntronicSNV |
- |
33/42 |
8-48868388-A-C |
PRKDC |
c.399+46T>G |
- |
IntronicSNV |
- |
4/86 |
8-48848490-T-A |
PRKDC |
c.1279-30A>T |
- |
IntronicSNV |
- |
12/86 |
3-14187715-G-A |
XPC |
c.2605-56C>T |
- |
IntronicSNV |
- |
15/15 |
2-47698059-T-C |
MSH2 |
c.1662-45T>C |
- |
IntronicSNV |
- |
10/15 |
15-40501993-T-A |
BUB1B |
c.2284+17T>A |
- |
IntronicSNV |
- |
17/22 |
15-40501993-T-G |
BUB1B |
c.2284+17T>G |
- |
IntronicSNV |
- |
17/22 |
15-40492017-C-T |
BUB1B |
c.1401+89C>T |
- |
IntronicSNV |
- |
10/22 |
16-14042215-C-T |
ERCC4 |
c.*11C>T |
- |
3-UTRSNV |
11/11 |
- |
9-139399611-C-T |
NOTCH1 |
c.4587-55G>A |
- |
IntronicSNV |
- |
25/33 |
3-14193933-G-A |
XPC |
c.2034-17C>T |
- |
IntronicSNV |
- |
10/15 |
2-39485612-G-A |
MAP4K3 |
c.2378-31C>T |
- |
IntronicSNV |
- |
30/33 |
17-37871956-A-G |
ERBB2 |
c.1314-37A>G |
- |
IntronicSNV |
- |
11/26 |
17-29528562-G-A |
NF1 |
c.1260+59G>A |
- |
IntronicSNV |
- |
11/57 |
17-37881575-C-G |
ERBB2 |
c.2650-5C>G |
- |
IntronicSNV |
- |
21/26 |
17-37881575-C-T |
ERBB2 |
c.2650-5C>T |
- |
IntronicSNV |
- |
21/26 |
9-139397795-T-C |
NOTCH1 |
c.5019-13A>G |
- |
IntronicSNV |
- |
26/33 |
2-47702451-G-T |
MSH2 |
c.2005+42G>T |
- |
IntronicSNV |
- |
12/15 |
16-2137806-G-A |
TSC2 |
c.4990-58G>A |
- |
IntronicSNV |
- |
38/41 |
7-140477771-A-G |
BRAF |
c.1517+20T>C |
- |
IntronicSNV |
- |
12/17 |
3-14201195-T-C |
XPC |
c.990+46A>G |
- |
IntronicSNV |
- |
8/15 |
8-48772402-A-G |
PRKDC |
c.6056-82T>C |
- |
intron_variant |
- |
46/86 |
5-112162779-T-G |
APC |
c.1409-26T>G |
- |
IntronicSNV |
- |
11/15 |
9-35077114-G-T |
FANCG |
c.647-16C>A |
- |
IntronicSNV |
- |
5/13 |
16-14029621-G-A |
ERCC4 |
c.1811+21G>A |
- |
IntronicSNV |
- |
8/10 |
7-116409676-T-A |
MET |
c.2584-23T>A |
- |
IntronicSNV |
- |
11/20 |
7-116409676-T-C |
MET |
c.2584-23T>C |
- |
IntronicSNV |
- |
11/20 |
15-91308512-T-C |
BLM |
c.2075-14T>C |
- |
IntronicSNV |
- |
8/21 |
15-91346738-A-G |
BLM |
c.3359-13A>G |
- |
IntronicSNV |
- |
17/21 |
14-68301776-C-T |
RAD51B |
c.199-21C>T |
- |
IntronicSNV |
- |
3/10 |
16-89877235-A-T |
FANCA |
c.427-25T>A |
- |
IntronicSNV |
- |
4/42 |
5-80063744-A-G |
MSH3 |
c.1897-8A>G |
- |
IntronicSNV |
- |
13/23 |
10-123256248-G-A |
FGFR2 |
c.1673-12C>T |
- |
IntronicSNV |
- |
12/17 |
15-89833560-G-A |
FANCI |
c.1890+48G>A |
- |
IntronicSNV |
- |
19/37 |
7-140477939-C-G |
BRAF |
c.1433-64G>C |
- |
IntronicSNV |
- |
11/17 |
7-140477939-C-T |
BRAF |
c.1433-64G>A |
- |
IntronicSNV |
- |
11/17 |
19-40761026-C-A |
AKT2 |
c.287+39G>T |
- |
IntronicSNV |
- |
4/13 |
19-40761026-C-T |
AKT2 |
c.287+39G>A |
- |
IntronicSNV |
- |
4/13 |
17-56772612-T-TGTACTATCG |
RAD51C |
c.404+63_404+71dup |
- |
IntronicInsertion |
- |
2/8 |
3-142257273-A-C |
ATR |
c.3725+51T>G |
- |
IntronicSNV |
- |
19/46 |
8-48694884-G-A |
PRKDC |
c.11393+55C>T |
- |
intron_variant |
- |
80/86 |
5-80021399-T-C |
MSH3 |
c.1453+15T>C |
- |
IntronicSNV |
- |
9/23 |
1-11188494-C-T |
MTOR |
c.5910+17G>A |
- |
IntronicSNV |
- |
42/57 |
5-80071494-T-G |
MSH3 |
c.2254-19T>G |
- |
IntronicSNV |
- |
15/23 |
15-89833549-C-G |
FANCI |
c.1890+37C>G |
- |
IntronicSNV |
- |
19/37 |
15-89833549-C-T |
FANCI |
c.1890+37C>T |
- |
IntronicSNV |
- |
19/37 |
16-2138432-C-T |
TSC2 |
c.5260-15C>T |
- |
IntronicSNV |
- |
41/41 |
11-108178737-C-G |
ATM |
c.5762+26C>G |
- |
IntronicSNV |
- |
38/62 |
11-108178737-C-T |
ATM |
c.5762+26C>T |
- |
IntronicSNV |
- |
38/62 |
2-29451957-C-A |
ALK |
c.2633-25G>T |
- |
IntronicSNV |
- |
15/28 |
2-29451957-C-T |
ALK |
c.2633-25G>A |
- |
IntronicSNV |
- |
15/28 |
11-533279-C-G |
HRAS |
c.450+174G>C |
- |
IntronicSNV |
- |
4/5 |
11-533279-C-T |
HRAS |
c.450+174G>A |
- |
IntronicSNV |
- |
4/5 |
19-11136217-C-T |
SMARCA4 |
c.3168+33C>T |
- |
IntronicSNV |
- |
22/34 |
3-10131954-G-A |
FANCD2 |
c.3684-22G>A |
- |
IntronicSNV |
- |
36/43 |
3-10131954-G-C |
FANCD2 |
c.3684-22G>C |
- |
IntronicSNV |
- |
36/43 |
13-48942652-T-C |
RB1 |
c.1050-11T>C |
- |
IntronicSNV |
- |
10/26 |
3-142234398-C-T |
ATR |
c.4383-41G>A |
- |
IntronicSNV |
- |
24/46 |
1-156836817-C-T |
NTRK1 |
c.428+47C>T |
- |
IntronicSNV |
- |
4/16 |
3-142178245-C-T |
ATR |
c.7193-20G>A |
- |
IntronicSNV |
- |
42/46 |
11-32449624-C-A |
WT1 |
c.785-20G>T |
- |
intron_variant |
- |
2/9 |
1-11199536-C-A |
MTOR |
c.4999-44G>T |
- |
IntronicSNV |
- |
35/57 |
1-11199536-C-T |
MTOR |
c.4999-44G>A |
- |
IntronicSNV |
- |
35/57 |
10-123256285-C-T |
FGFR2 |
c.1673-49G>A |
- |
IntronicSNV |
- |
12/17 |
8-90958335-A-G |
NBN |
c.2070+33T>C |
- |
IntronicSNV |
- |
13/15 |
2-215657231-C-A |
BARD1 |
c.216-62G>T |
- |
IntronicSNV |
- |
2/10 |
2-215657231-C-T |
BARD1 |
c.216-62G>A |
- |
IntronicSNV |
- |
2/10 |
13-103519251-C-T |
ERCC5 |
c.2533+56C>T |
- |
IntronicSNV |
- |
11/14 |
19-1223603-G-A |
STK11 |
c.1108+432G>A |
- |
IntronicSNV |
- |
8/9 |
5-131945121-C-T |
RAD50 |
c.3036+33C>T |
- |
IntronicSNV |
- |
19/24 |
14-104165596-C-T |
XRCC3 |
c.775-80G>A |
- |
IntronicSNV |
- |
8/9 |
11-108155248-A-G |
ATM |
c.3993+48A>G |
- |
IntronicSNV |
- |
26/62 |
10-123274581-G-C |
FGFR2 |
c.1287+50C>G |
- |
IntronicSNV |
- |
9/17 |
2-215632120-G-C |
BARD1 |
c.1568+86C>G |
- |
IntronicSNV |
- |
6/10 |
2-215632120-G-T |
BARD1 |
c.1568+86C>A |
- |
IntronicSNV |
- |
6/10 |
3-142272908-T-C |
ATR |
c.2342-51A>G |
- |
IntronicSNV |
- |
10/46 |
9-135786326-C-T |
TSC1 |
c.1141+63G>A |
- |
IntronicSNV |
- |
11/22 |
X-14862921-T-C |
FANCB |
c.1927+57A>G |
- |
IntronicSNV |
- |
8/9 |
7-116395637-C-A |
MET |
c.1862+68C>A |
- |
IntronicSNV |
- |
6/20 |
12-121434652-A-G |
HNF1A |
c.1309+107A>G |
- |
IntronicSNV |
- |
6/9 |
10-123263490-T-C |
FGFR2 |
c.1288-35A>G |
- |
IntronicSNV |
- |
9/17 |
1-11291512-G-A |
MTOR |
c.2515-21C>T |
- |
IntronicSNV |
- |
16/57 |
9-135772184-C-G |
TSC1 |
c.2976-43G>C |
- |
IntronicSNV |
- |
22/22 |
9-135772184-C-T |
TSC1 |
c.2976-43G>A |
- |
IntronicSNV |
- |
22/22 |
8-145736958-C-T |
RECQL4 |
c.3503-20G>A |
- |
intron_variant |
- |
21/21 |
5-56161347-T-C |
MAP3K1 |
c.1152+64T>C |
- |
IntronicSNV |
- |
5/19 |
2-128030569-G-A |
ERCC3 |
c.1731-32C>T |
- |
IntronicSNV |
- |
10/14 |
20-36031016-C-T |
SRC |
c.1270+25C>T |
- |
IntronicSNV |
- |
12/13 |
15-89851060-G-A |
FANCI |
c.3651+157G>A |
- |
IntronicSNV |
- |
34/37 |
5-80040509-G-A |
MSH3 |
c.1763+75G>A |
- |
IntronicSNV |
- |
12/23 |
7-55248930-C-T |
EGFR |
c.2284-56C>T |
- |
IntronicSNV |
- |
19/27 |
16-89805421-T-TA |
FANCA |
c.4168-40_4168-40dup |
- |
IntronicInsertion |
- |
41/42 |
8-48826382-A-G |
PRKDC |
c.2781+79T>C |
- |
IntronicSNV |
- |
24/86 |
15-89807891-T-C |
FANCI |
c.755+53T>C |
- |
IntronicSNV |
- |
9/37 |
16-89858037-G-A |
FANCA |
c.1226-93C>T |
- |
IntronicSNV |
- |
13/42 |
13-48951025-A-G |
RB1 |
c.1216-29A>G |
- |
IntronicSNV |
- |
12/26 |
2-48028416-A-T |
MSH6 |
c.3172+122A>T |
- |
IntronicSNV |
- |
4/9 |
3-10070417-G-C |
FANCD2 |
c.64+12G>C |
- |
IntronicSNV |
- |
2/43 |
2-128046489-A-G |
ERCC3 |
c.823-49T>C |
- |
IntronicSNV |
- |
6/14 |
11-108158496-A-T |
ATM |
c.4109+54A>T |
- |
IntronicSNV |
- |
27/62 |
11-108099888-A-G |
ATM |
c.186-17A>G |
- |
IntronicSNV |
- |
3/62 |
3-10105399-C-A |
FANCD2 |
c.1828-77C>A |
- |
IntronicSNV |
- |
20/43 |
3-10105399-C-T |
FANCD2 |
c.1828-77C>T |
- |
IntronicSNV |
- |
20/43 |
8-48840477-A-G |
PRKDC |
c.2140-27T>C |
- |
IntronicSNV |
- |
19/86 |
2-39560648-C-G |
MAP4K3 |
c.457+25G>C |
- |
IntronicSNV |
- |
7/33 |
2-39560648-C-T |
MAP4K3 |
c.457+25G>A |
- |
IntronicSNV |
- |
7/33 |
2-29917660-G-A |
ALK |
c.952+56C>T |
- |
IntronicSNV |
- |
3/28 |
2-29917660-G-C |
ALK |
c.952+56C>G |
- |
IntronicSNV |
- |
3/28 |
4-55133715-A-G |
PDGFRA |
c.932-4A>G |
- |
IntronicSNV |
- |
6/22 |
19-4102348-G-A |
MAP2K2 |
c.528+26C>T |
- |
IntronicSNV |
- |
4/10 |
2-47600766-T-C |
EPCAM |
c.184+57T>C |
- |
IntronicSNV |
- |
2/8 |
12-46123605-T-A |
ARID2 |
c.1-15T>A |
- |
IntergenicSNV |
1/21 |
- |
20-36031544-C-T |
SRC |
c.1403-30C>T |
- |
IntronicSNV |
- |
13/13 |
1-120464481-T-C |
NOTCH2 |
c.5214-49A>G |
- |
IntronicSNV |
- |
28/33 |
1-45798901-C-T |
MUTYH |
c.304+56G>A |
- |
IntronicSNV |
- |
4/15 |
19-11113864-G-C |
SMARCA4 |
c.1943+29G>C |
- |
IntronicSNV |
- |
12/34 |
19-11113864-G-T |
SMARCA4 |
c.1943+29G>T |
- |
IntronicSNV |
- |
12/34 |
5-56160541-T-C |
MAP3K1 |
c.835-20T>C |
- |
IntronicSNV |
- |
3/19 |
9-5044540-C-T |
JAK2 |
c.468+20C>T |
- |
IntronicSNV |
- |
5/24 |
16-348273-C-T |
AXIN1 |
c.1255-22G>A |
- |
IntronicSNV |
- |
5/10 |
10-123260275-A-G |
FGFR2 |
c.1561+65T>C |
- |
IntronicSNV |
- |
11/17 |
8-30925867-A-C |
WRN |
c.724+24A>C |
- |
IntronicSNV |
- |
7/34 |
8-48843376-T-C |
PRKDC |
c.1777-29A>G |
- |
IntronicSNV |
- |
16/86 |
2-39478927-A-G |
MAP4K3 |
c.2597+44T>C |
- |
IntronicSNV |
- |
33/33 |
3-178937107-T-C |
PIK3CA |
c.1746+42T>C |
- |
IntronicSNV |
- |
11/20 |
11-32417962-A-G |
WT1 |
c.1114-9T>C |
- |
splice_polypyrimidine_tract_variant,intron_variant |
- |
6/9 |
16-89836965-C-T |
FANCA |
c.2222+7G>A |
- |
IntronicSNV |
- |
24/42 |
14-75505141-C-A |
MLH3 |
c.3571-26G>T |
- |
IntronicSNV |
- |
5/12 |
14-75505141-C-T |
MLH3 |
c.3571-26G>A |
- |
IntronicSNV |
- |
5/12 |
16-2136455-C-T |
TSC2 |
c.4849+75C>T |
- |
IntronicSNV |
- |
37/41 |
17-12043139-T-C |
MAP2K4 |
c.1041-17T>C |
- |
IntronicSNV |
- |
9/10 |
7-55242549-T-C |
EGFR |
c.2283+36T>C |
- |
IntronicSNV |
- |
19/27 |
1-11167517-G-A |
MTOR |
c.*25C>T |
- |
3-UTRSNV |
58/58 |
- |
1-11167517-G-C |
MTOR |
c.*25C>G |
- |
3-UTRSNV |
58/58 |
- |
22-29108079-C-G |
CHEK2 |
c.684-74G>C |
- |
IntronicSNV |
- |
5/14 |
9-35078100-G-A |
FANCG |
c.510+38C>T |
- |
IntronicSNV |
- |
4/13 |
16-2137805-C-T |
TSC2 |
c.4990-59C>T |
- |
IntronicSNV |
- |
38/41 |
1-11316005-G-A |
MTOR |
c.705+44C>T |
- |
IntronicSNV |
- |
5/57 |
17-37883822-G-A |
ERBB2 |
c.3412+22G>A |
- |
IntronicSNV |
- |
26/26 |
17-37646758-A-G |
CDK12 |
c.1932-52A>G |
- |
IntronicSNV |
- |
2/13 |
14-68353705-T-G |
RAD51B |
c.573-33T>G |
- |
IntronicSNV |
- |
6/10 |
2-212522689-G-A |
ERBB4 |
c.1872-136C>T |
- |
IntronicSNV |
- |
15/27 |
2-212522689-G-C |
ERBB4 |
c.1872-136C>G |
- |
IntronicSNV |
- |
15/27 |
7-6031593-A-G |
PMS2 |
c.988+11T>C |
- |
IntronicSNV |
- |
9/14 |
1-11167158-C-T |
MTOR |
c.*384G>A |
- |
3-UTRSNV |
58/58 |
- |
8-48715855-C-T |
PRKDC |
c.9919+12G>A |
- |
intron_variant |
- |
71/86 |
9-139410227-C-A |
NOTCH1 |
c.1670-59G>T |
- |
IntronicSNV |
- |
10/33 |
2-29606777-A-C |
ALK |
c.1155-52T>G |
- |
IntronicSNV |
- |
4/28 |
2-29606777-A-G |
ALK |
c.1155-52T>C |
- |
IntronicSNV |
- |
4/28 |
10-43601785-A-G |
RET |
c.868-39A>G |
- |
IntronicSNV |
- |
4/19 |
19-40771108-C-A |
AKT2 |
c.46+21G>T |
- |
IntronicSNV |
- |
2/13 |
19-40771108-C-T |
AKT2 |
c.46+21G>A |
- |
IntronicSNV |
- |
2/13 |
16-23635433-G-A |
PALB2 |
c.2749-18C>T |
- |
IntronicSNV |
- |
7/12 |
2-215661773-G-A |
BARD1 |
c.215+12C>T |
- |
IntronicSNV |
- |
2/10 |
X-15827449-A-T |
ZRSR2 |
c.557+8A>T |
- |
IntronicSNV |
- |
7/10 |
4-1807266-G-A |
FGFR3 |
c.1535-20G>A |
- |
IntronicSNV |
- |
11/17 |
8-145742185-G-A |
RECQL4 |
c.355-37C>T |
- |
IntronicSNV |
- |
4/21 |
4-1807278-G-A |
FGFR3 |
c.1535-8G>A |
- |
IntronicSNV |
- |
11/17 |
4-1807278-G-C |
FGFR3 |
c.1535-8G>C |
- |
IntronicSNV |
- |
11/17 |
4-1807278-G-T |
FGFR3 |
c.1535-8G>T |
- |
IntronicSNV |
- |
11/17 |
2-215661883-T-G |
BARD1 |
c.159-42A>C |
- |
IntronicSNV |
- |
1/10 |
X-15834042-G-T |
ZRSR2 |
c.771+29G>T |
- |
IntronicSNV |
- |
8/10 |
8-48801232-T-C |
PRKDC |
c.4278-21A>G |
- |
intron_variant |
- |
34/86 |
16-89849522-T-C |
FANCA |
c.1471-12A>G |
- |
IntronicSNV |
- |
15/42 |
16-89849522-T-G |
FANCA |
c.1471-12A>C |
- |
IntronicSNV |
- |
15/42 |
12-46231085-G-A |
ARID2 |
c.1024-19G>A |
- |
IntronicSNV |
- |
8/20 |
16-89813206-A-G |
FANCA |
c.3408+33T>C |
- |
IntronicSNV |
- |
34/42 |
5-67522920-T-C |
PIK3R1 |
c.334+83T>C |
- |
IntronicSNV |
- |
2/15 |
15-89856217-A-G |
FANCI |
c.3720+14A>G |
- |
IntronicSNV |
- |
35/37 |
15-89856217-A-T |
FANCI |
c.3720+14A>T |
- |
IntronicSNV |
- |
35/37 |
16-68842784-G-A |
CDH1 |
c.687+33G>A |
- |
IntronicSNV |
- |
5/15 |
10-50668528-A-C |
ERCC6 |
c.3984-31T>G |
- |
IntronicSNV |
- |
19/20 |
3-38182230-C-G |
MYD88 |
c.645-18C>G |
- |
intron_variant |
- |
3/4 |
3-38182230-C-T |
MYD88 |
c.645-18C>T |
- |
intron_variant |
- |
3/4 |
3-37056045-A-C |
MLH1 |
c.790+10A>C |
- |
IntronicSNV |
- |
9/18 |
13-103525564-G-C |
ERCC5 |
c.2880-45G>C |
- |
IntronicSNV |
- |
13/14 |
13-103525564-G-T |
ERCC5 |
c.2880-45G>T |
- |
IntronicSNV |
- |
13/14 |
5-67575600-A-G |
PIK3R1 |
c.634+39A>G |
- |
IntronicSNV |
- |
5/15 |
2-215633906-A-G |
BARD1 |
c.1395+50T>C |
- |
IntronicSNV |
- |
5/10 |
2-39517490-G-C |
MAP4K3 |
c.1272-15C>G |
- |
IntronicSNV |
- |
18/33 |
2-47702450-T-TG |
MSH2 |
c.2005+42_2005+42dup |
- |
IntronicInsertion |
- |
12/15 |
19-11135189-G-A |
SMARCA4 |
c.3081+75G>A |
- |
IntronicSNV |
- |
21/34 |
19-11135189-G-T |
SMARCA4 |
c.3081+75G>T |
- |
IntronicSNV |
- |
21/34 |
1-156838525-G-C |
NTRK1 |
c.717+86G>C |
- |
IntronicSNV |
- |
6/16 |
3-142215122-A-T |
ATR |
c.5898+81T>A |
- |
IntronicSNV |
- |
34/46 |
1-11272991-G-A |
MTOR |
c.3286-26C>T |
- |
IntronicSNV |
- |
21/57 |
8-30999188-T-C |
WRN |
c.3139-9T>C |
- |
IntronicSNV |
- |
25/34 |
3-178927353-G-A |
PIK3CA |
c.1146-30G>A |
- |
IntronicSNV |
- |
6/20 |
1-11174961-G-A |
MTOR |
c.7090-17C>T |
- |
IntronicSNV |
- |
51/57 |
5-131944276-A-G |
RAD50 |
c.2719-31A>G |
- |
IntronicSNV |
- |
16/24 |
6-138202130-G-A |
TNFAIP3 |
c.2089-42G>A |
- |
IntronicSNV |
- |
8/8 |
13-49050826-G-A |
RB1 |
c.2521-11G>A |
- |
IntronicSNV |
- |
24/26 |
17-29508691-A-C |
NF1 |
c.655-37A>C |
- |
IntronicSNV |
- |
6/57 |
1-11169789-A-G |
MTOR |
c.7367-3T>C |
- |
IntronicSNV |
- |
54/57 |
10-123278248-A-G |
FGFR2 |
c.939+1245T>C |
- |
IntronicSNV |
- |
7/17 |
10-123353213-A-T |
FGFR2 |
c.109+10T>A |
- |
IntronicSNV |
- |
2/17 |
10-123353206-G-C |
FGFR2 |
c.109+17C>G |
- |
IntronicSNV |
- |
2/17 |
19-11101798-C-G |
SMARCA4 |
c.1246-28C>G |
- |
IntronicSNV |
- |
7/34 |
19-11101798-C-T |
SMARCA4 |
c.1246-28C>T |
- |
IntronicSNV |
- |
7/34 |
3-10078033-G-A |
FANCD2 |
c.491+10G>A |
- |
IntronicSNV |
- |
7/43 |
17-37879564-G-A |
ERBB2 |
c.1947-8G>A |
- |
IntronicSNV |
- |
16/26 |
17-37879564-G-T |
ERBB2 |
c.1947-8G>T |
- |
IntronicSNV |
- |
16/26 |
2-29446191-G-A |
ALK |
c.3359+17C>T |
- |
IntronicSNV |
- |
20/28 |
3-14206917-G-A |
XPC |
c.779+11C>T |
- |
IntronicSNV |
- |
6/15 |
9-139405551-G-A |
NOTCH1 |
c.2587+53C>T |
- |
IntronicSNV |
- |
16/33 |
10-50678980-G-A |
ERCC6 |
c.3070+41C>T |
- |
IntronicSNV |
- |
17/20 |
2-128046899-G-A |
ERCC3 |
c.822+14C>T |
- |
IntronicSNV |
- |
6/14 |
20-36024553-G-C |
SRC |
c.554-12G>C |
- |
IntronicSNV |
- |
7/13 |
16-2125795-C-G |
TSC2 |
c.2546-5C>G |
- |
IntronicSNV |
- |
22/41 |
16-2125795-C-T |
TSC2 |
c.2546-5C>T |
- |
IntronicSNV |
- |
22/41 |
1-65311159-T-C |
JAK1 |
c.2115+37A>G |
- |
IntronicSNV |
- |
15/24 |
7-148508821-T-A |
EZH2 |
c.1852-9A>T |
- |
IntronicSNV |
- |
15/19 |
7-148508821-T-C |
EZH2 |
c.1852-9A>G |
- |
IntronicSNV |
- |
15/19 |
7-148508821-T-G |
EZH2 |
c.1852-9A>C |
- |
IntronicSNV |
- |
15/19 |
19-11170659-T-A |
SMARCA4 |
c.4769-62T>A |
- |
IntronicSNV |
- |
33/34 |
19-1207286-C-G |
STK11 |
c.290+84C>G |
- |
IntronicSNV |
- |
1/9 |
19-1207286-C-T |
STK11 |
c.290+84C>T |
- |
IntronicSNV |
- |
1/9 |
11-108127101-A-C |
ATM |
c.2250+34A>C |
- |
IntronicSNV |
- |
14/62 |
11-108127101-A-G |
ATM |
c.2250+34A>G |
- |
IntronicSNV |
- |
14/62 |
17-29549019-C-T |
NF1 |
c.1721+72C>T |
- |
IntronicSNV |
- |
15/57 |
7-55272897-A-G |
EGFR |
c.3272-52A>G |
- |
IntronicSNV |
- |
27/27 |
11-108127089-A-C |
ATM |
c.2250+22A>C |
- |
IntronicSNV |
- |
14/62 |
17-63532746-T-C |
AXIN2 |
c.1908-75A>G |
- |
IntronicSNV |
- |
7/10 |
12-46298706-T-A |
ARID2 |
c.5364-11T>A |
- |
IntronicSNV |
- |
20/20 |
8-30954377-A-G |
WRN |
c.1981+11A>G |
- |
IntronicSNV |
- |
17/34 |
7-148514497-T-C |
EZH2 |
c.1241-14A>G |
- |
IntronicSNV |
- |
10/19 |
4-55140834-G-A |
PDGFRA |
c.1653+42G>A |
- |
IntronicSNV |
- |
11/22 |
16-89869586-G-A |
FANCA |
c.792+81C>T |
- |
IntronicSNV |
- |
8/42 |
16-89869586-G-C |
FANCA |
c.792+81C>G |
- |
IntronicSNV |
- |
8/42 |
16-89869586-G-T |
FANCA |
c.792+81C>A |
- |
IntronicSNV |
- |
8/42 |
2-39519906-G-T |
MAP4K3 |
c.1271+8C>A |
- |
IntronicSNV |
- |
18/33 |
19-11123595-G-T |
SMARCA4 |
c.2275-30G>T |
- |
IntronicSNV |
- |
15/34 |
9-139401741-G-A |
NOTCH1 |
c.3643+16C>T |
- |
IntronicSNV |
- |
22/33 |
16-2124464-C-A |
TSC2 |
c.2545+74C>A |
- |
IntronicSNV |
- |
22/41 |
16-2124464-C-T |
TSC2 |
c.2545+74C>T |
- |
IntronicSNV |
- |
22/41 |
8-90994923-A-T |
NBN |
c.171+27T>A |
- |
IntronicSNV |
- |
2/15 |
13-48916860-C-G |
RB1 |
c.380+10C>G |
- |
IntronicSNV |
- |
3/26 |
4-55133960-G-A |
PDGFRA |
c.1121+52G>A |
- |
IntronicSNV |
- |
7/22 |
16-23640642-T-C |
PALB2 |
c.2515-46A>G |
- |
IntronicSNV |
- |
5/12 |
10-123274874-C-T |
FGFR2 |
c.1085-41G>A |
- |
IntronicSNV |
- |
8/17 |
8-145736803-A-G |
RECQL4 |
c.*11T>C |
- |
3_prime_UTR_variant |
22/22 |
- |
19-11151902-C-G |
SMARCA4 |
c.4171-81C>G |
- |
IntronicSNV |
- |
29/34 |
12-56492279-C-T |
ERBB3 |
c.2617-5C>T |
- |
IntronicSNV |
- |
21/27 |
3-142232334-T-C |
ATR |
c.4641+9A>G |
- |
IntronicSNV |
- |
26/46 |
16-23637756-G-A |
PALB2 |
c.2587-38C>T |
- |
IntronicSNV |
- |
6/12 |
16-23637756-G-C |
PALB2 |
c.2587-38C>G |
- |
IntronicSNV |
- |
6/12 |
16-23637756-G-T |
PALB2 |
c.2587-38C>A |
- |
IntronicSNV |
- |
6/12 |
1-27092696-C-G |
ARID1A |
c.2733-16C>G |
- |
IntronicSNV |
- |
8/19 |
16-89857957-C-G |
FANCA |
c.1226-13G>C |
- |
IntronicSNV |
- |
13/42 |
19-11136060-G-A |
SMARCA4 |
c.3082-38G>A |
- |
IntronicSNV |
- |
21/34 |
16-354473-T-A |
AXIN1 |
c.1117-32A>T |
- |
IntronicSNV |
- |
4/10 |
9-5077615-T-C |
JAK2 |
c.1992+35T>C |
- |
IntronicSNV |
- |
15/24 |
19-45859109-C-T |
ERCC2 |
c.1480-123G>A |
- |
IntronicSNV |
- |
15/22 |
17-29545939-G-A |
NF1 |
c.1528-84G>A |
- |
IntronicSNV |
- |
13/57 |
17-29545939-G-T |
NF1 |
c.1528-84G>T |
- |
IntronicSNV |
- |
13/57 |
16-2130384-G-A |
TSC2 |
c.3610+6G>A |
- |
IntronicSNV |
- |
30/41 |
16-2126489-C-A |
TSC2 |
c.2743-3C>A |
- |
IntronicSNV |
- |
24/41 |
3-10184449-C-T |
VHL |
c.340+578C>T |
- |
IntronicSNV |
- |
1/2 |
19-11151954-G-C |
SMARCA4 |
c.4171-29G>C |
- |
IntronicSNV |
- |
29/34 |
10-89690764-A-G |
PTEN |
c.210-39A>G |
- |
IntronicSNV |
- |
3/8 |
2-39499366-T-C |
MAP4K3 |
c.1973+58A>G |
- |
IntronicSNV |
- |
26/33 |
16-14026187-A-G |
ERCC4 |
c.1102+45A>G |
- |
IntronicSNV |
- |
6/10 |
2-212293119-G-A |
ERBB4 |
c.2719+14C>T |
- |
IntronicSNV |
- |
22/27 |
2-212293119-G-C |
ERBB4 |
c.2719+14C>G |
- |
IntronicSNV |
- |
22/27 |
16-14041416-A-G |
ERCC4 |
c.2018-55A>G |
- |
IntronicSNV |
- |
10/10 |
16-14041416-A-T |
ERCC4 |
c.2018-55A>T |
- |
IntronicSNV |
- |
10/10 |
20-36024536-C-T |
SRC |
c.554-29C>T |
- |
IntronicSNV |
- |
7/13 |
3-10134015-C-T |
FANCD2 |
c.3849+79C>T |
- |
IntronicSNV |
- |
38/43 |
19-4102552-C-T |
MAP2K2 |
c.451-101G>A |
- |
IntronicSNV |
- |
3/10 |
17-33430666-C-G |
RAD51D |
c.577-103G>C |
- |
IntronicSNV |
- |
6/9 |
2-212522654-G-A |
ERBB4 |
c.1872-101C>T |
- |
IntronicSNV |
- |
15/27 |
1-11194535-C-T |
MTOR |
c.5131-12G>A |
- |
IntronicSNV |
- |
36/57 |
1-11199331-G-C |
MTOR |
c.5130+30C>G |
- |
IntronicSNV |
- |
36/57 |
14-45633838-A-G |
FANCM |
c.1788+70A>G |
- |
IntronicSNV |
- |
10/22 |
2-29606575-G-A |
ALK |
c.1282+23C>T |
- |
IntronicSNV |
- |
5/28 |
19-4117647-T-C |
MAP2K2 |
c.93-20A>G |
- |
IntronicSNV |
- |
1/10 |
19-4117647-T-G |
MAP2K2 |
c.93-20A>C |
- |
IntronicSNV |
- |
1/10 |
16-89858321-G-A |
FANCA |
c.1225+14C>T |
- |
IntronicSNV |
- |
13/42 |
16-89858321-G-T |
FANCA |
c.1225+14C>A |
- |
IntronicSNV |
- |
13/42 |
6-35434010-C-T |
FANCE |
c.1510-11C>T |
- |
IntronicSNV |
- |
9/9 |
13-32890704-G-A |
BRCA2 |
c.67+40G>A |
- |
IntronicSNV |
- |
2/26 |
19-4117388-C-T |
MAP2K2 |
c.303+29G>A |
- |
IntronicSNV |
- |
2/10 |
3-14187352-C-G |
XPC |
c.*89G>C |
- |
3-UTRSNV |
16/16 |
- |
3-14187352-C-T |
XPC |
c.*89G>A |
- |
3-UTRSNV |
16/16 |
- |
9-139401705-C-T |
NOTCH1 |
c.3643+52G>A |
- |
IntronicSNV |
- |
22/33 |
22-30069499-C-T |
NF2 |
c.1340+24C>T |
- |
IntronicSNV |
- |
12/15 |
5-67576867-T-C |
PIK3R1 |
c.916+33T>C |
- |
IntronicSNV |
- |
7/15 |
X-14861675-A-C |
FANCB |
c.*14T>G |
- |
3-UTRSNV |
10/10 |
- |
X-14861675-A-G |
FANCB |
c.*14T>C |
- |
3-UTRSNV |
10/10 |
- |
X-14868868-G-A |
FANCB |
c.1327-72C>T |
- |
IntronicSNV |
- |
6/9 |
X-14868868-G-T |
FANCB |
c.1327-72C>A |
- |
IntronicSNV |
- |
6/9 |
7-140476924-C-A |
BRAF |
c.1518-36G>T |
- |
IntronicSNV |
- |
12/17 |
7-140476924-C-T |
BRAF |
c.1518-36G>A |
- |
IntronicSNV |
- |
12/17 |
7-116419023-G-T |
MET |
c.3522+12G>T |
- |
IntronicSNV |
- |
17/20 |
1-120529755-C-A |
NOTCH2 |
c.752-50G>T |
- |
IntronicSNV |
- |
4/33 |
1-120529755-C-T |
NOTCH2 |
c.752-50G>A |
- |
IntronicSNV |
- |
4/33 |
15-91292519-T-A |
BLM |
c.99-78T>A |
- |
IntronicSNV |
- |
2/21 |
15-91292519-T-C |
BLM |
c.99-78T>C |
- |
IntronicSNV |
- |
2/21 |
15-89825119-C-T |
FANCI |
c.1583+53C>T |
- |
IntronicSNV |
- |
16/37 |
3-142231344-T-C |
ATR |
c.4642-32A>G |
- |
IntronicSNV |
- |
26/46 |
15-89828482-A-C |
FANCI |
c.1821+33A>C |
- |
IntronicSNV |
- |
18/37 |
15-89856263-G-A |
FANCI |
c.3720+60G>A |
- |
IntronicSNV |
- |
35/37 |
15-89817386-A-C |
FANCI |
c.976-13A>C |
- |
IntronicSNV |
- |
11/37 |
15-89817386-A-T |
FANCI |
c.976-13A>T |
- |
IntronicSNV |
- |
11/37 |
8-48731923-C-T |
PRKDC |
c.9442+40G>A |
- |
intron_variant |
- |
68/86 |
1-2489981-C-T |
TNFRSF14 |
c.304+74C>T |
- |
IntronicSNV |
- |
3/7 |
15-89850836-T-C |
FANCI |
c.3592-8T>C |
- |
IntronicSNV |
- |
33/37 |
15-89826497-G-A |
FANCI |
c.1698+16G>A |
- |
IntronicSNV |
- |
17/37 |
17-37657481-A-G |
CDK12 |
c.2420-22A>G |
- |
IntronicSNV |
- |
5/13 |
17-37657481-A-T |
CDK12 |
c.2420-22A>T |
- |
IntronicSNV |
- |
5/13 |
17-12044450-C-T |
MAP2K4 |
c.1087-14C>T |
- |
IntronicSNV |
- |
10/10 |
19-45855445-G-A |
ERCC2 |
c.2190+22C>T |
- |
IntronicSNV |
- |
22/22 |
15-89856125-A-C |
FANCI |
c.3652-10A>C |
- |
IntronicSNV |
- |
34/37 |
15-89856125-A-G |
FANCI |
c.3652-10A>G |
- |
IntronicSNV |
- |
34/37 |
15-89856125-A-T |
FANCI |
c.3652-10A>T |
- |
IntronicSNV |
- |
34/37 |
19-40743858-G-A |
AKT2 |
c.831+18C>T |
- |
IntronicSNV |
- |
9/13 |
19-40743858-G-C |
AKT2 |
c.831+18C>G |
- |
IntronicSNV |
- |
9/13 |
8-145742153-G-A |
RECQL4 |
c.355-5C>T |
- |
IntronicSNV |
- |
4/21 |
8-128751326-T-C |
MYC |
c.802+61T>C |
- |
IntronicSNV |
- |
2/2 |
2-39517543-A-AT |
MAP4K3 |
c.1272-69_1272-69dup |
- |
IntronicInsertion |
- |
18/33 |
19-4095500-C-T |
MAP2K2 |
c.985-53G>A |
- |
IntronicSNV |
- |
8/10 |
1-2493295-C-T |
TNFRSF14 |
c.694+41C>T |
- |
IntronicSNV |
- |
6/7 |
1-65344653-A-G |
JAK1 |
c.329+55T>C |
- |
IntronicSNV |
- |
4/24 |
2-29416824-A-T |
ALK |
c.4165-36T>A |
- |
IntronicSNV |
- |
28/28 |
17-29677187-C-T |
NF1 |
c.7322-14C>T |
- |
IntronicSNV |
- |
49/57 |
2-29449762-T-C |
ALK |
c.3067+26A>G |
- |
IntronicSNV |
- |
18/28 |
19-11123823-G-A |
SMARCA4 |
c.2438+35G>A |
- |
IntronicSNV |
- |
16/34 |
17-33443893-G-A |
RAD51D |
c.263+1627C>T |
- |
IntronicSNV |
- |
3/9 |
17-33443893-G-T |
RAD51D |
c.263+1627C>A |
- |
IntronicSNV |
- |
3/9 |
5-56181719-C-G |
MAP3K1 |
c.3983-40C>G |
- |
IntronicSNV |
- |
16/19 |
5-56181719-C-T |
MAP3K1 |
c.3983-40C>T |
- |
IntronicSNV |
- |
16/19 |
17-37871951-C-G |
ERBB2 |
c.1314-42C>G |
- |
IntronicSNV |
- |
11/26 |
17-37871951-C-T |
ERBB2 |
c.1314-42C>T |
- |
IntronicSNV |
- |
11/26 |
8-128753248-G-A |
MYC |
c.*44G>A |
- |
3-UTRSNV |
3/3 |
- |
16-89837081-G-A |
FANCA |
c.2152-39C>T |
- |
IntronicSNV |
- |
23/42 |
16-89837081-G-T |
FANCA |
c.2152-39C>A |
- |
IntronicSNV |
- |
23/42 |
12-56491756-G-A |
ERBB3 |
c.2616+32G>A |
- |
IntronicSNV |
- |
21/27 |
2-47698095-G-A |
MSH2 |
c.1662-9G>A |
- |
IntronicSNV |
- |
10/15 |
2-47698095-G-C |
MSH2 |
c.1662-9G>C |
- |
IntronicSNV |
- |
10/15 |
5-112164460-A-C |
APC |
c.1627-93A>C |
- |
IntronicSNV |
- |
13/15 |
2-47604278-A-G |
EPCAM |
c.555+62A>G |
- |
IntronicSNV |
- |
5/8 |
16-2129495-A-C |
TSC2 |
c.3285-63A>C |
- |
IntronicSNV |
- |
28/41 |
16-2129495-A-G |
TSC2 |
c.3285-63A>G |
- |
IntronicSNV |
- |
28/41 |
1-27058170-T-C |
ARID1A |
c.1803+75T>C |
- |
IntronicSNV |
- |
3/19 |
1-65313387-C-G |
JAK1 |
c.1756-29G>C |
- |
IntronicSNV |
- |
12/24 |
7-148529683-A-G |
EZH2 |
c.363+43T>C |
- |
IntronicSNV |
- |
4/19 |
16-2123008-C-T |
TSC2 |
c.2355+24C>T |
- |
IntronicSNV |
- |
21/41 |
9-139401701-T-A |
NOTCH1 |
c.3643+56A>T |
- |
IntronicSNV |
- |
22/33 |
9-139401701-T-C |
NOTCH1 |
c.3643+56A>G |
- |
IntronicSNV |
- |
22/33 |
12-121434571-C-T |
HNF1A |
c.1309+26C>T |
- |
IntronicSNV |
- |
6/9 |
16-2138007-G-A |
TSC2 |
c.5069-42G>A |
- |
IntronicSNV |
- |
39/41 |
16-89858493-C-T |
FANCA |
c.1084-17G>A |
- |
IntronicSNV |
- |
12/42 |
8-145738886-G-A |
RECQL4 |
c.2201-22C>T |
- |
IntronicSNV |
- |
13/21 |
17-29528207-T-C |
NF1 |
c.1185+30T>C |
- |
IntronicSNV |
- |
10/57 |
17-47688918-T-C |
SPOP |
c.481-99A>G |
- |
IntronicSNV |
- |
5/9 |
15-89817350-A-C |
FANCI |
c.976-49A>C |
- |
IntronicSNV |
- |
11/37 |
15-89790850-T-C |
FANCI |
c.1-29T>C |
- |
IntronicSNV |
- |
1/37 |
17-29559942-A-C |
NF1 |
c.3496+43A>C |
- |
IntronicSNV |
- |
26/57 |
2-29917700-G-A |
ALK |
c.952+16C>T |
- |
IntronicSNV |
- |
3/28 |
8-30949479-C-G |
WRN |
c.1898+65C>G |
- |
IntronicSNV |
- |
16/34 |
8-30949479-C-T |
WRN |
c.1898+65C>T |
- |
IntronicSNV |
- |
16/34 |
2-29474165-G-A |
ALK |
c.2042-32C>T |
- |
IntronicSNV |
- |
11/28 |
16-89858493-C-A |
FANCA |
c.1084-17G>T |
- |
IntronicSNV |
- |
12/42 |
16-89858493-C-G |
FANCA |
c.1084-17G>C |
- |
IntronicSNV |
- |
12/42 |
16-89836750-C-T |
FANCA |
c.2223-83G>A |
- |
IntronicSNV |
- |
24/42 |
1-120512117-G-A |
NOTCH2 |
c.1108+17C>T |
- |
IntronicSNV |
- |
6/33 |
1-120512117-G-T |
NOTCH2 |
c.1108+17C>A |
- |
IntronicSNV |
- |
6/33 |
3-41275421-T-C |
CTNNB1 |
c.1524+63T>C |
- |
IntronicSNV |
- |
9/14 |
19-40747996-T-C |
AKT2 |
c.442-20A>G |
- |
IntronicSNV |
- |
5/13 |
9-139396165-G-A |
NOTCH1 |
c.5638+35C>T |
- |
IntronicSNV |
- |
30/33 |
7-55268197-C-G |
EGFR |
c.2946+91C>G |
- |
IntronicSNV |
- |
24/27 |
7-55268197-C-T |
EGFR |
c.2946+91C>T |
- |
IntronicSNV |
- |
24/27 |
4-55155084-C-A |
PDGFRA |
c.2774+19C>A |
- |
IntronicSNV |
- |
20/22 |
4-55155084-C-T |
PDGFRA |
c.2774+19C>T |
- |
IntronicSNV |
- |
20/22 |
1-11317235-G-A |
MTOR |
c.272-13C>T |
- |
IntronicSNV |
- |
3/57 |
1-11317235-G-C |
MTOR |
c.272-13C>G |
- |
IntronicSNV |
- |
3/57 |
16-2133636-A-G |
TSC2 |
c.3884-60A>G |
- |
IntronicSNV |
- |
32/41 |
15-89821910-C-T |
FANCI |
c.1294-8C>T |
- |
IntronicSNV |
- |
13/37 |
2-58388642-A-G |
FANCL |
c.1020+15T>C |
- |
IntronicSNV |
- |
12/13 |
14-68353939-T-C |
RAD51B |
c.756+18T>C |
- |
IntronicSNV |
- |
7/10 |
7-55242402-C-T |
EGFR |
c.2185-13C>T |
- |
IntronicSNV |
- |
18/27 |
19-11114004-C-A |
SMARCA4 |
c.1944-12C>A |
- |
IntronicSNV |
- |
12/34 |
19-11114004-C-T |
SMARCA4 |
c.1944-12C>T |
- |
IntronicSNV |
- |
12/34 |
16-2122375-C-T |
TSC2 |
c.2220+11C>T |
- |
IntronicSNV |
- |
20/41 |
13-103518275-A-G |
ERCC5 |
c.2199+14A>G |
- |
IntronicSNV |
- |
9/14 |
3-14193818-C-T |
XPC |
c.2115+17G>A |
- |
IntronicSNV |
- |
11/15 |
1-11276335-T-C |
MTOR |
c.3031-44A>G |
- |
IntronicSNV |
- |
19/57 |
14-45639980-T-C |
FANCM |
c.2160+31T>C |
- |
IntronicSNV |
- |
12/22 |
19-40748401-A-C |
AKT2 |
c.441+40T>G |
- |
IntronicSNV |
- |
5/13 |
13-103518011-G-A |
ERCC5 |
c.1955-6G>A |
- |
IntronicSNV |
- |
8/14 |
2-58392812-C-T |
FANCL |
c.691+47G>A |
- |
IntronicSNV |
- |
8/13 |
14-104165456-A-G |
XRCC3 |
c.821+14T>C |
- |
IntronicSNV |
- |
9/9 |
17-29546013-T-C |
NF1 |
c.1528-10T>C |
- |
IntronicSNV |
- |
13/57 |
5-56168573-A-T |
MAP3K1 |
c.1505+24A>T |
- |
IntronicSNV |
- |
8/19 |
1-11294183-C-T |
MTOR |
c.2331+17G>A |
- |
IntronicSNV |
- |
14/57 |
1-45800191-A-C |
MUTYH |
c.1-14T>G |
- |
IntronicSNV |
- |
1/15 |
1-45800178-G-A |
MUTYH |
c.1-1C>T |
- |
5-UTRSNV |
2/16 |
- |
1-45800178-G-C |
MUTYH |
c.1-1C>G |
- |
5-UTRSNV |
2/16 |
- |
14-45624672-A-G |
FANCM |
c.1396+10A>G |
- |
IntronicSNV |
- |
8/22 |
5-67575569-T-C |
PIK3R1 |
c.634+8T>C |
- |
IntronicSNV |
- |
5/15 |
5-67575569-T-G |
PIK3R1 |
c.634+8T>G |
- |
IntronicSNV |
- |
5/15 |
7-116403083-G-A |
MET |
c.2365-21G>A |
- |
IntronicSNV |
- |
10/20 |
7-116403083-G-C |
MET |
c.2365-21G>C |
- |
IntronicSNV |
- |
10/20 |
19-11102008-C-T |
SMARCA4 |
c.1419+9C>T |
- |
IntronicSNV |
- |
8/34 |
10-50686378-G-A |
ERCC6 |
c.2286+22C>T |
- |
IntronicSNV |
- |
11/20 |
10-50681098-G-A |
ERCC6 |
c.2710-24C>T |
- |
IntronicSNV |
- |
14/20 |
10-50723362-G-A |
ERCC6 |
c.1397+8717C>T |
- |
IntronicSNV |
- |
5/20 |
3-14211904-C-A |
XPC |
c.412+34G>T |
- |
IntronicSNV |
- |
3/15 |
3-14211904-C-T |
XPC |
c.412+34G>A |
- |
IntronicSNV |
- |
3/15 |
1-11167541-G-A |
MTOR |
c.*1C>T |
- |
3-UTRSNV |
58/58 |
- |
1-11167541-G-C |
MTOR |
c.*1C>G |
- |
3-UTRSNV |
58/58 |
- |
1-11188215-G-A |
MTOR |
c.5911-32C>T |
- |
IntronicSNV |
- |
42/57 |
10-123325244-C-A |
FGFR2 |
c.110-26G>T |
- |
IntronicSNV |
- |
2/17 |
10-123325244-C-T |
FGFR2 |
c.110-26G>A |
- |
IntronicSNV |
- |
2/17 |
8-30942649-T-C |
WRN |
c.1351-33T>C |
- |
IntronicSNV |
- |
10/34 |
3-10116159-T-A |
FANCD2 |
c.2716-55T>A |
- |
IntronicSNV |
- |
28/43 |
10-123324889-C-T |
FGFR2 |
c.376+63G>A |
- |
IntronicSNV |
- |
3/17 |
14-104174809-G-GAT |
XRCC3 |
c.193+48_193+49dup |
- |
IntronicInsertion |
- |
5/9 |
16-89836526-C-T |
FANCA |
c.2316+48G>A |
- |
IntronicSNV |
- |
25/42 |
15-89848993-C-G |
FANCI |
c.3349+64C>G |
- |
IntronicSNV |
- |
31/37 |
15-89848993-C-T |
FANCI |
c.3349+64C>T |
- |
IntronicSNV |
- |
31/37 |
15-89857807-A-G |
FANCI |
c.3721-36A>G |
- |
IntronicSNV |
- |
35/37 |
8-30982158-A-G |
WRN |
c.2732+19A>G |
- |
IntronicSNV |
- |
22/34 |
8-30982158-A-T |
WRN |
c.2732+19A>T |
- |
IntronicSNV |
- |
22/34 |
17-63534555-C-T |
AXIN2 |
c.1060-94G>A |
- |
IntronicSNV |
- |
4/10 |
4-1806018-G-A |
FGFR3 |
c.1076-39G>A |
- |
IntronicSNV |
- |
8/17 |
4-1806018-G-C |
FGFR3 |
c.1076-39G>C |
- |
IntronicSNV |
- |
8/17 |
4-1806018-G-T |
FGFR3 |
c.1076-39G>T |
- |
IntronicSNV |
- |
8/17 |
1-120508206-G-A |
NOTCH2 |
c.1568-17C>T |
- |
IntronicSNV |
- |
9/33 |
4-1806743-G-A |
FGFR3 |
c.1412+47G>A |
- |
IntronicSNV |
- |
10/17 |
7-148524176-T-C |
EZH2 |
c.728+80A>G |
- |
IntronicSNV |
- |
7/19 |
9-135802570-T-C |
TSC1 |
c.210+18A>G |
- |
IntronicSNV |
- |
4/22 |
16-2127595-A-C |
TSC2 |
c.2838-4A>C |
- |
IntronicSNV |
- |
25/41 |
16-2127595-A-G |
TSC2 |
c.2838-4A>G |
- |
IntronicSNV |
- |
25/41 |
3-142277648-A-G |
ATR |
c.1733-30T>C |
- |
IntronicSNV |
- |
7/46 |
8-31004859-G-T |
WRN |
c.3460-21G>T |
- |
IntronicSNV |
- |
29/34 |
7-116397656-A-G |
MET |
c.1966-36A>G |
- |
IntronicSNV |
- |
7/20 |
14-104165112-G-A |
XRCC3 |
c.*23C>T |
- |
3-UTRSNV |
10/10 |
- |
14-104165112-G-T |
XRCC3 |
c.*23C>A |
- |
3-UTRSNV |
10/10 |
- |
13-48934289-T-C |
RB1 |
c.718+26T>C |
- |
IntronicSNV |
- |
7/26 |
15-89856104-G-A |
FANCI |
c.3652-31G>A |
- |
IntronicSNV |
- |
34/37 |
2-212286865-G-A |
ERBB4 |
c.2867-36C>T |
- |
IntronicSNV |
- |
23/27 |
2-212286865-G-T |
ERBB4 |
c.2867-36C>A |
- |
IntronicSNV |
- |
23/27 |
9-5080214-C-T |
JAK2 |
c.2132-15C>T |
- |
IntronicSNV |
- |
16/24 |
9-139407830-C-G |
NOTCH1 |
c.2353+14G>C |
- |
IntronicSNV |
- |
14/33 |
9-139407830-C-T |
NOTCH1 |
c.2353+14G>A |
- |
IntronicSNV |
- |
14/33 |
19-4101221-C-T |
MAP2K2 |
c.580+6G>A |
- |
IntronicSNV |
- |
5/10 |
8-48729951-A-G |
PRKDC |
c.9554+60T>C |
- |
intron_variant |
- |
69/86 |
3-10074665-T-G |
FANCD2 |
c.205+9T>G |
- |
IntronicSNV |
- |
3/43 |
3-178947289-C-T |
PIK3CA |
c.2666+59C>T |
- |
IntronicSNV |
- |
18/20 |
19-40741684-C-T |
AKT2 |
c.1175+113G>A |
- |
IntronicSNV |
- |
11/13 |
19-40741707-G-A |
AKT2 |
c.1175+90C>T |
- |
IntronicSNV |
- |
11/13 |
19-40741707-G-T |
AKT2 |
c.1175+90C>A |
- |
IntronicSNV |
- |
11/13 |
5-67588926-C-T |
PIK3R1 |
c.1020-3C>T |
- |
IntronicSNV |
- |
8/15 |
13-48922042-A-G |
RB1 |
c.539+43A>G |
- |
IntronicSNV |
- |
5/26 |
17-29677185-A-G |
NF1 |
c.7322-16A>G |
- |
IntronicSNV |
- |
49/57 |
8-48729947-A-G |
PRKDC |
c.9554+64T>C |
- |
intron_variant |
- |
69/86 |
15-89816742-T-A |
FANCI |
c.975+42T>A |
- |
IntronicSNV |
- |
11/37 |
15-89816742-T-C |
FANCI |
c.975+42T>C |
- |
IntronicSNV |
- |
11/37 |
8-48774918-C-T |
PRKDC |
c.5916+16G>A |
- |
intron_variant |
- |
44/86 |
19-40745906-T-C |
AKT2 |
c.639+46A>G |
- |
IntronicSNV |
- |
7/13 |
17-33434352-C-T |
RAD51D |
c.345+33G>A |
- |
IntronicSNV |
- |
4/9 |
19-11169066-C-T |
SMARCA4 |
c.4533+27C>T |
- |
IntronicSNV |
- |
31/34 |
8-48743323-A-T |
PRKDC |
c.8263-26T>A |
- |
intron_variant |
- |
61/86 |
14-35872586-C-G |
NFKBIA |
c.337-20G>C |
- |
IntronicSNV |
- |
2/5 |
14-35872586-C-T |
NFKBIA |
c.337-20G>A |
- |
IntronicSNV |
- |
2/5 |
1-156846158-C-T |
NTRK1 |
c.1633-34C>T |
- |
IntronicSNV |
- |
13/16 |
11-108100100-C-G |
ATM |
c.331+50C>G |
- |
IntronicSNV |
- |
4/62 |
11-108100100-C-T |
ATM |
c.331+50C>T |
- |
IntronicSNV |
- |
4/62 |
11-125499116-A-G |
CHEK1 |
c.290-11A>G |
- |
IntronicSNV |
- |
3/12 |
2-47613825-C-T |
EPCAM |
c.*73C>T |
- |
3-UTRSNV |
9/9 |
- |
8-48736594-C-G |
PRKDC |
c.8781-37G>C |
- |
intron_variant |
- |
64/86 |
8-48736594-C-T |
PRKDC |
c.8781-37G>A |
- |
intron_variant |
- |
64/86 |
16-68846024-C-G |
CDH1 |
c.1009-14C>G |
- |
IntronicSNV |
- |
7/15 |
16-68846024-C-T |
CDH1 |
c.1009-14C>T |
- |
IntronicSNV |
- |
7/15 |
19-40771103-T-G |
AKT2 |
c.46+26A>C |
- |
IntronicSNV |
- |
2/13 |
4-1807272-C-G |
FGFR3 |
c.1535-14C>G |
- |
IntronicSNV |
- |
11/17 |
4-1807272-C-T |
FGFR3 |
c.1535-14C>T |
- |
IntronicSNV |
- |
11/17 |
1-120512120-C-T |
NOTCH2 |
c.1108+14G>A |
- |
IntronicSNV |
- |
6/33 |
9-100447354-G-A |
XPA |
c.556-32C>T |
- |
IntronicSNV |
- |
4/5 |
19-11102007-C-T |
SMARCA4 |
c.1419+8C>T |
- |
IntronicSNV |
- |
8/34 |
19-4102520-C-A |
MAP2K2 |
c.451-69G>T |
- |
IntronicSNV |
- |
3/10 |
19-4102520-C-G |
MAP2K2 |
c.451-69G>C |
- |
IntronicSNV |
- |
3/10 |
19-4102520-C-T |
MAP2K2 |
c.451-69G>A |
- |
IntronicSNV |
- |
3/10 |
2-29498114-C-A |
ALK |
c.1913-21G>T |
- |
IntronicSNV |
- |
10/28 |
2-29498114-C-T |
ALK |
c.1913-21G>A |
- |
IntronicSNV |
- |
10/28 |
2-212537987-G-A |
ERBB4 |
c.1623-5C>T |
- |
IntronicSNV |
- |
13/27 |
9-139407610-G-A |
NOTCH1 |
c.2354-24C>T |
- |
IntronicSNV |
- |
14/33 |
11-125514584-T-G |
CHEK1 |
c.1233+46T>G |
- |
IntronicSNV |
- |
11/12 |
22-30050629-C-T |
NF2 |
c.448-17C>T |
- |
IntronicSNV |
- |
4/15 |
11-108159902-C-G |
ATM |
c.4236+72C>G |
- |
IntronicSNV |
- |
28/62 |
11-108159902-C-T |
ATM |
c.4236+72C>T |
- |
IntronicSNV |
- |
28/62 |
11-94194255-T-C |
MRE11 |
c.1226-53A>G |
- |
IntronicSNV |
- |
11/19 |
11-94194255-T-G |
MRE11 |
c.1226-53A>C |
- |
IntronicSNV |
- |
11/19 |
11-94212961-C-A |
MRE11 |
c.315-34G>T |
- |
IntronicSNV |
- |
4/19 |
11-94212961-C-T |
MRE11 |
c.315-34G>A |
- |
IntronicSNV |
- |
4/19 |
11-94212957-C-T |
MRE11 |
c.315-30G>A |
- |
IntronicSNV |
- |
4/19 |
5-67589038-G-A |
PIK3R1 |
c.1118+11G>A |
- |
IntronicSNV |
- |
9/15 |
5-67522916-G-A |
PIK3R1 |
c.334+79G>A |
- |
IntronicSNV |
- |
2/15 |
7-55231542-G-A |
EGFR |
c.1722+26G>A |
- |
IntronicSNV |
- |
14/27 |
7-55231542-G-C |
EGFR |
c.1722+26G>C |
- |
IntronicSNV |
- |
14/27 |
7-55231542-G-T |
EGFR |
c.1722+26G>T |
- |
IntronicSNV |
- |
14/27 |
2-47602353-A-G |
EPCAM |
c.426-20A>G |
- |
IntronicSNV |
- |
3/8 |
2-47602353-A-T |
EPCAM |
c.426-20A>T |
- |
IntronicSNV |
- |
3/8 |
2-47613788-G-A |
EPCAM |
c.*36G>A |
- |
3-UTRSNV |
9/9 |
- |
11-47254530-G-A |
DDB2 |
c.602+20G>A |
- |
IntronicSNV |
- |
4/9 |
11-94197431-C-G |
MRE11 |
c.1099-26G>C |
- |
IntronicSNV |
- |
10/19 |
11-94197431-C-T |
MRE11 |
c.1099-26G>A |
- |
IntronicSNV |
- |
10/19 |
16-2103485-C-A |
TSC2 |
c.336+32C>A |
- |
IntronicSNV |
- |
4/41 |
16-2103485-C-T |
TSC2 |
c.336+32C>T |
- |
IntronicSNV |
- |
4/41 |
16-89831280-G-C |
FANCA |
c.2778+18C>G |
- |
IntronicSNV |
- |
28/42 |
5-67590344-T-G |
PIK3R1 |
c.1426-20T>G |
- |
IntronicSNV |
- |
11/15 |
3-37067541-G-A |
MLH1 |
c.1409+43G>A |
- |
IntronicSNV |
- |
12/18 |
15-91337382-C-T |
BLM |
c.3020-15C>T |
- |
IntronicSNV |
- |
15/21 |
X-76814104-A-G |
ATRX |
c.6504+36T>C |
- |
IntronicSNV |
- |
29/34 |
17-37682091-A-G |
CDK12 |
c.3308-26A>G |
- |
IntronicSNV |
- |
12/13 |
17-37866741-G-T |
ERBB2 |
c.901+7G>T |
- |
IntronicSNV |
- |
7/26 |
1-11272593-T-C |
MTOR |
c.3399-62A>G |
- |
IntronicSNV |
- |
22/57 |
9-139405742-C-T |
NOTCH1 |
c.2468-19G>A |
- |
IntronicSNV |
- |
15/33 |
16-14029716-A-G |
ERCC4 |
c.1811+116A>G |
- |
IntronicSNV |
- |
8/10 |
16-14029716-A-T |
ERCC4 |
c.1811+116A>T |
- |
IntronicSNV |
- |
8/10 |
22-24143333-G-A |
SMARCB1 |
c.500+65G>A |
- |
IntronicSNV |
- |
4/8 |
5-131944947-T-C |
RAD50 |
c.2923-28T>C |
- |
IntronicSNV |
- |
18/24 |
9-135772195-C-T |
TSC1 |
c.2976-54G>A |
- |
IntronicSNV |
- |
22/22 |
16-23646154-T-A |
PALB2 |
c.1684+29A>T |
- |
IntronicSNV |
- |
4/12 |
16-23646154-T-C |
PALB2 |
c.1684+29A>G |
- |
IntronicSNV |
- |
4/12 |
14-35872113-C-G |
NFKBIA |
c.548-48G>C |
- |
IntronicSNV |
- |
3/5 |
1-11189911-C-T |
MTOR |
c.5614-16G>A |
- |
IntronicSNV |
- |
39/57 |
2-212615342-G-A |
ERBB4 |
c.622+22C>T |
- |
IntronicSNV |
- |
5/27 |
2-212615342-G-T |
ERBB4 |
c.622+22C>A |
- |
IntronicSNV |
- |
5/27 |
1-115256414-C-T |
NRAS |
c.290+7G>A |
- |
IntronicSNV |
- |
3/6 |
1-11291131-G-A |
MTOR |
c.2650-20C>T |
- |
IntronicSNV |
- |
17/57 |
8-145737183-A-G |
RECQL4 |
c.3394-11T>C |
- |
splice_polypyrimidine_tract_variant,intron_variant |
- |
20/21 |
15-91312523-T-G |
BLM |
c.2406+62T>G |
- |
IntronicSNV |
- |
11/21 |
17-33446670-C-A |
RAD51D |
c.1-38G>T |
- |
5-UTRSNV |
1/10 |
- |
10-43619095-C-T |
RET |
c.2802-24C>T |
- |
IntronicSNV |
- |
16/19 |
17-47679201-G-A |
SPOP |
c.980+26C>T |
- |
IntronicSNV |
- |
9/9 |
10-43622282-T-C |
RET |
c.3187+112T>C |
- |
IntronicSNV |
- |
19/19 |
16-89846227-G-A |
FANCA |
c.1715+50C>T |
- |
IntronicSNV |
- |
18/42 |
16-89846227-G-C |
FANCA |
c.1715+50C>G |
- |
IntronicSNV |
- |
18/42 |
16-89846227-G-T |
FANCA |
c.1715+50C>A |
- |
IntronicSNV |
- |
18/42 |
14-35872113-C-T |
NFKBIA |
c.548-48G>A |
- |
IntronicSNV |
- |
3/5 |
9-35077249-T-A |
FANCG |
c.646+12A>T |
- |
IntronicSNV |
- |
5/13 |
9-35077249-T-C |
FANCG |
c.646+12A>G |
- |
IntronicSNV |
- |
5/13 |
X-76931661-T-G |
ATRX |
c.3809+60A>C |
- |
IntronicSNV |
- |
10/34 |
11-32410588-C-A |
WT1 |
c.*16G>T |
- |
3-UTRSNV |
10/10 |
- |
11-108143616-T-A |
ATM |
c.3284+37T>A |
- |
IntronicSNV |
- |
22/62 |
19-11105731-G-A |
SMARCA4 |
c.1593+54G>A |
- |
IntronicSNV |
- |
9/34 |
7-55268864-C-G |
EGFR |
c.2947-17C>G |
- |
IntronicSNV |
- |
24/27 |
7-55268864-C-T |
EGFR |
c.2947-17C>T |
- |
IntronicSNV |
- |
24/27 |
3-14209945-C-T |
XPC |
c.413-65G>A |
- |
IntronicSNV |
- |
3/15 |
7-6043443-A-C |
PMS2 |
c.251-20T>G |
- |
IntronicSNV |
- |
3/14 |
16-354298-A-G |
AXIN1 |
c.1254+6T>C |
- |
IntronicSNV |
- |
5/10 |
20-36026304-C-G |
SRC |
c.859+47C>G |
- |
IntronicSNV |
- |
9/13 |
20-36026304-C-T |
SRC |
c.859+47C>T |
- |
IntronicSNV |
- |
9/13 |
19-1221362-C-T |
STK11 |
c.862+23C>T |
- |
IntronicSNV |
- |
6/9 |
3-14206880-C-T |
XPC |
c.779+48G>A |
- |
IntronicSNV |
- |
6/15 |
16-2125768-G-A |
TSC2 |
c.2546-32G>A |
- |
IntronicSNV |
- |
22/41 |
16-23640515-T-A |
PALB2 |
c.2586+10A>T |
- |
IntronicSNV |
- |
6/12 |
16-23640515-T-C |
PALB2 |
c.2586+10A>G |
- |
IntronicSNV |
- |
6/12 |
14-35871955-G-A |
NFKBIA |
c.636+22C>T |
- |
IntronicSNV |
- |
4/5 |
14-35871955-G-C |
NFKBIA |
c.636+22C>G |
- |
IntronicSNV |
- |
4/5 |
15-40494692-T-G |
BUB1B |
c.1628+26T>G |
- |
IntronicSNV |
- |
13/22 |
3-37048441-A-C |
MLH1 |
c.381-41A>C |
- |
IntronicSNV |
- |
4/18 |
3-37048441-A-G |
MLH1 |
c.381-41A>G |
- |
IntronicSNV |
- |
4/18 |
5-67588910-T-C |
PIK3R1 |
c.1020-19T>C |
- |
IntronicSNV |
- |
8/15 |
5-67588910-T-G |
PIK3R1 |
c.1020-19T>G |
- |
IntronicSNV |
- |
8/15 |
15-89826516-G-A |
FANCI |
c.1698+35G>A |
- |
IntronicSNV |
- |
17/37 |
15-89826516-G-T |
FANCI |
c.1698+35G>T |
- |
IntronicSNV |
- |
17/37 |
15-89835025-T-C |
FANCI |
c.1992+80T>C |
- |
IntronicSNV |
- |
20/37 |
10-43607720-G-A |
RET |
c.1648+48G>A |
- |
IntronicSNV |
- |
8/19 |
16-89882407-G-A |
FANCA |
c.80-13C>T |
- |
IntronicSNV |
- |
1/42 |
8-48771028-C-A |
PRKDC |
c.6462+49G>T |
- |
intron_variant |
- |
49/86 |
8-48771028-C-G |
PRKDC |
c.6462+49G>C |
- |
intron_variant |
- |
49/86 |
11-125507327-G-A |
CHEK1 |
c.719-17G>A |
- |
IntronicSNV |
- |
7/12 |
19-11144207-C-T |
SMARCA4 |
c.3774+14C>T |
- |
IntronicSNV |
- |
26/34 |
7-148515213-C-T |
EZH2 |
c.1000-4G>A |
- |
IntronicSNV |
- |
9/19 |
17-7579924-G-A |
TP53 |
c.1-12C>T |
- |
5-UTRSNV |
2/11 |
- |
1-2494755-C-T |
TNFRSF14 |
c.*43C>T |
- |
3-UTRSNV |
8/8 |
- |
16-89865684-C-G |
FANCA |
c.827-44G>C |
- |
IntronicSNV |
- |
9/42 |
16-89865684-C-T |
FANCA |
c.827-44G>A |
- |
IntronicSNV |
- |
9/42 |
16-89815202-C-G |
FANCA |
c.3240-27G>C |
- |
IntronicSNV |
- |
32/42 |
16-89815202-C-T |
FANCA |
c.3240-27G>A |
- |
IntronicSNV |
- |
32/42 |
2-212251550-C-T |
ERBB4 |
c.3481+28G>A |
- |
IntronicSNV |
- |
27/27 |
13-32890589-T-C |
BRCA2 |
c.1-9T>C |
- |
5-UTRSNV |
2/27 |
- |
13-32932072-C-T |
BRCA2 |
c.7805+6C>T |
- |
IntronicSNV |
- |
16/26 |
15-40477868-G-A |
BUB1B |
c.1058+25G>A |
- |
IntronicSNV |
- |
8/22 |
16-2103486-G-A |
TSC2 |
c.336+33G>A |
- |
IntronicSNV |
- |
4/41 |
16-2103486-G-T |
TSC2 |
c.336+33G>T |
- |
IntronicSNV |
- |
4/41 |
3-37053236-A-C |
MLH1 |
c.546-75A>C |
- |
IntronicSNV |
- |
6/18 |
1-120459401-C-A |
NOTCH2 |
c.6028-84G>T |
- |
IntronicSNV |
- |
33/33 |
2-212568923-C-T |
ERBB4 |
c.1199-4G>A |
- |
IntronicSNV |
- |
10/27 |
7-140434620-A-G |
BRAF |
c.2128-50T>C |
- |
IntronicSNV |
- |
17/17 |
19-45867676-C-G |
ERCC2 |
c.718+6G>C |
- |
IntronicSNV |
- |
8/22 |
19-45867676-C-T |
ERCC2 |
c.718+6G>A |
- |
IntronicSNV |
- |
8/22 |
10-89624340-C-G |
PTEN |
c.79+35C>G |
- |
IntronicSNV |
- |
1/8 |
1-11188705-G-A |
MTOR |
c.5812-96C>T |
- |
IntronicSNV |
- |
41/57 |
3-37089991-C-G |
MLH1 |
c.1897-17C>G |
- |
IntronicSNV |
- |
16/18 |
15-89807893-G-A |
FANCI |
c.755+55G>A |
- |
IntronicSNV |
- |
9/37 |
19-45856098-G-A |
ERCC2 |
c.1832-24C>T |
- |
IntronicSNV |
- |
19/22 |
16-68835823-C-A |
CDH1 |
c.387+27C>A |
- |
IntronicSNV |
- |
3/15 |
5-67589697-G-GAGT |
PIK3R1 |
c.1425+36_1425+38dup |
- |
IntronicInsertion |
- |
11/15 |
5-79968692-C-T |
MSH3 |
c.1027+15C>T |
- |
IntronicSNV |
- |
6/23 |
11-125496752-C-A |
CHEK1 |
c.65+24C>A |
- |
IntronicSNV |
- |
2/12 |
11-125496752-C-T |
CHEK1 |
c.65+24C>T |
- |
IntronicSNV |
- |
2/12 |
17-12044451-A-G |
MAP2K4 |
c.1087-13A>G |
- |
IntronicSNV |
- |
10/10 |
3-10116187-C-A |
FANCD2 |
c.2716-27C>A |
- |
IntronicSNV |
- |
28/43 |
3-10116187-C-G |
FANCD2 |
c.2716-27C>G |
- |
IntronicSNV |
- |
28/43 |
3-10116187-C-T |
FANCD2 |
c.2716-27C>T |
- |
IntronicSNV |
- |
28/43 |
2-29497921-C-A |
ALK |
c.2041+44G>T |
- |
IntronicSNV |
- |
11/28 |
19-4102328-G-A |
MAP2K2 |
c.528+46C>T |
- |
IntronicSNV |
- |
4/10 |
17-33443915-C-T |
RAD51D |
c.263+1605G>A |
- |
IntronicSNV |
- |
3/9 |
14-75498972-C-G |
MLH3 |
c.3716-90G>C |
- |
IntronicSNV |
- |
7/12 |
2-29416833-A-G |
ALK |
c.4165-45T>C |
- |
IntronicSNV |
- |
28/28 |
12-56491042-A-G |
ERBB3 |
c.2460+28A>G |
- |
IntronicSNV |
- |
20/27 |
8-48847496-C-T |
PRKDC |
c.1497+73G>A |
- |
IntronicSNV |
- |
14/86 |
8-48848547-G-A |
PRKDC |
c.1279-87C>T |
- |
IntronicSNV |
- |
12/86 |
8-48848547-G-C |
PRKDC |
c.1279-87C>G |
- |
IntronicSNV |
- |
12/86 |
19-40740933-G-A |
AKT2 |
c.1366+19C>T |
- |
IntronicSNV |
- |
13/13 |
19-40740933-G-T |
AKT2 |
c.1366+19C>A |
- |
IntronicSNV |
- |
13/13 |
8-48690178-C-T |
PRKDC |
c.12039+69G>A |
- |
intron_variant |
- |
85/86 |
8-48691259-48691260---A |
PRKDC |
c.11648+29dup |
- |
intron_variant |
- |
83/86 |
19-11144772-C-T |
SMARCA4 |
c.3874-27C>T |
- |
IntronicSNV |
- |
27/34 |
7-55266571-G-T |
EGFR |
c.2848+15G>T |
- |
IntronicSNV |
- |
23/27 |
16-89865491-G-C |
FANCA |
c.893+83C>G |
- |
IntronicSNV |
- |
10/42 |
16-89865491-G-T |
FANCA |
c.893+83C>A |
- |
IntronicSNV |
- |
10/42 |
9-35076690-C-T |
FANCG |
c.924+31G>A |
- |
IntronicSNV |
- |
7/13 |
11-47236819-T-G |
DDB2 |
c.127+5T>G |
- |
IntronicSNV |
- |
1/9 |
16-2138208-C-T |
TSC2 |
c.5161-20C>T |
- |
IntronicSNV |
- |
40/41 |
3-10102103-C-T |
FANCD2 |
c.1766+16C>T |
- |
IntronicSNV |
- |
19/43 |
16-89815201-G-A |
FANCA |
c.3240-26C>T |
- |
IntronicSNV |
- |
32/42 |
2-212289112-C-T |
ERBB4 |
c.2720-86G>A |
- |
IntronicSNV |
- |
22/27 |
19-45864905-C-A |
ERCC2 |
c.1119-5G>T |
- |
IntronicSNV |
- |
11/22 |
19-45864905-C-T |
ERCC2 |
c.1119-5G>A |
- |
IntronicSNV |
- |
11/22 |
2-128046461-G-A |
ERCC3 |
c.823-21C>T |
- |
IntronicSNV |
- |
6/14 |
10-43623746-C-A |
RET |
c.*29C>A |
- |
3-UTRSNV |
20/20 |
- |
1-11317259-C-A |
MTOR |
c.272-37G>T |
- |
IntronicSNV |
- |
3/57 |
1-11317259-C-T |
MTOR |
c.272-37G>A |
- |
IntronicSNV |
- |
3/57 |
7-148525979-C-T |
EZH2 |
c.485-7G>A |
- |
IntronicSNV |
- |
5/19 |
4-1803271-C-G |
FGFR3 |
c.615+8C>G |
- |
IntronicSNV |
- |
5/17 |
4-1803271-C-T |
FGFR3 |
c.615+8C>T |
- |
IntronicSNV |
- |
5/17 |
3-178941848-C-A |
PIK3CA |
c.2188-21C>A |
- |
IntronicSNV |
- |
14/20 |
3-178941848-C-T |
PIK3CA |
c.2188-21C>T |
- |
IntronicSNV |
- |
14/20 |
17-29663964-A-G |
NF1 |
c.6427+32A>G |
- |
IntronicSNV |
- |
42/57 |
8-48729960-C-T |
PRKDC |
c.9554+51G>A |
- |
intron_variant |
- |
69/86 |
19-11123615-G-A |
SMARCA4 |
c.2275-10G>A |
- |
IntronicSNV |
- |
15/34 |
14-68944357-T-C |
RAD51B |
c.1037-8T>C |
- |
IntronicSNV |
- |
10/10 |
4-1807254-C-A |
FGFR3 |
c.1535-32C>A |
- |
IntronicSNV |
- |
11/17 |
4-1807254-C-G |
FGFR3 |
c.1535-32C>G |
- |
IntronicSNV |
- |
11/17 |
4-1807254-C-T |
FGFR3 |
c.1535-32C>T |
- |
IntronicSNV |
- |
11/17 |
7-6042301-G-C |
PMS2 |
c.354-34C>G |
- |
IntronicSNV |
- |
4/14 |
2-48018275-A-G |
MSH6 |
c.457+13A>G |
- |
IntronicSNV |
- |
2/9 |
1-65332501-A-G |
JAK1 |
c.990+48T>C |
- |
IntronicSNV |
- |
7/24 |
3-10114511-G-A |
FANCD2 |
c.2495-44G>A |
- |
IntronicSNV |
- |
26/43 |
14-104175066-G-A |
XRCC3 |
c.56-70C>T |
- |
IntronicSNV |
- |
4/9 |
16-2104271-G-C |
TSC2 |
c.337-26G>C |
- |
IntronicSNV |
- |
4/41 |
17-37879761-C-T |
ERBB2 |
c.2086-30C>T |
- |
IntronicSNV |
- |
17/26 |
3-10107739-C-A |
FANCD2 |
c.2385+76C>A |
- |
IntronicSNV |
- |
25/43 |
2-47672671-T-C |
MSH2 |
c.1277-16T>C |
- |
IntronicSNV |
- |
7/15 |
1-2494524-C-G |
TNFRSF14 |
c.727-63C>G |
- |
IntronicSNV |
- |
7/7 |
1-2494524-C-T |
TNFRSF14 |
c.727-63C>T |
- |
IntronicSNV |
- |
7/7 |
4-55144046-A-G |
PDGFRA |
c.1892-17A>G |
- |
IntronicSNV |
- |
13/22 |
3-178937350-C-T |
PIK3CA |
c.1747-9C>T |
- |
IntronicSNV |
- |
11/20 |
8-145740293-C-T |
RECQL4 |
c.1620+27G>A |
- |
IntronicSNV |
- |
9/21 |
15-40457402-G-A |
BUB1B |
c.179+5G>A |
- |
IntronicSNV |
- |
2/22 |
16-68867431-C-A |
CDH1 |
c.*29C>A |
- |
3-UTRSNV |
16/16 |
- |
16-2122367-A-C |
TSC2 |
c.2220+3A>C |
- |
IntronicSNV |
- |
20/41 |
9-139404171-C-A |
NOTCH1 |
c.2969+14G>T |
- |
IntronicSNV |
- |
18/33 |
9-139404171-C-T |
NOTCH1 |
c.2969+14G>A |
- |
IntronicSNV |
- |
18/33 |
17-37883295-C-T |
ERBB2 |
c.3159+39C>T |
- |
IntronicSNV |
- |
25/26 |
4-1806311-C-T |
FGFR3 |
c.1266+64C>T |
- |
IntronicSNV |
- |
9/17 |
19-11169577-G-A |
SMARCA4 |
c.4635+12G>A |
- |
IntronicSNV |
- |
32/34 |
13-48923059-C-T |
RB1 |
c.540-33C>T |
- |
IntronicSNV |
- |
5/26 |
17-41203148-G-C |
BRCA1 |
c.5278-14C>G |
- |
IntronicSNV |
- |
19/22 |
13-48939015-C-A |
RB1 |
c.862-15C>A |
- |
IntronicSNV |
- |
8/26 |
8-30982021-A-C |
WRN |
c.2631-17A>C |
- |
IntronicSNV |
- |
21/34 |
4-55143669-C-T |
PDGFRA |
c.1891+10C>T |
- |
IntronicSNV |
- |
13/22 |
3-142268275-T-C |
ATR |
c.3171+46A>G |
- |
IntronicSNV |
- |
15/46 |
11-32410592-G-A |
WT1 |
c.*12C>T |
- |
3-UTRSNV |
10/10 |
- |
16-89831509-G-A |
FANCA |
c.2602-35C>T |
- |
IntronicSNV |
- |
27/42 |
20-36024553-G-A |
SRC |
c.554-12G>A |
- |
IntronicSNV |
- |
7/13 |
5-56177625-C-T |
MAP3K1 |
c.2598C>T |
p.A866= |
Synonymous |
14/20 |
- |
2-128044451-G-A |
ERCC3 |
c.1170C>T |
p.C390= |
Synonymous |
8/15 |
- |
5-112179673-C-T |
APC |
c.8382C>T |
p.S2794= |
Synonymous |
16/16 |
- |
17-56770094-G-A |
RAD51C |
c.90G>A |
p.A30= |
Synonymous |
1/9 |
- |
17-37881618-C-T |
ERBB2 |
c.2688C>T |
p.R896= |
Synonymous |
22/27 |
- |
9-139405121-G-A |
NOTCH1 |
c.2724C>T |
p.I908= |
Synonymous |
17/34 |
- |
9-139409842-G-A |
NOTCH1 |
c.1914C>T |
p.C638= |
Synonymous |
12/34 |
- |
17-37864693-C-T |
ERBB2 |
c.345C>T |
p.A115= |
Synonymous |
3/27 |
- |
16-89845220-C-T |
FANCA |
c.1815G>A |
p.E605= |
Synonymous |
20/43 |
- |
7-140482908-T-C |
BRAF |
c.1227A>G |
p.S409= |
Synonymous |
10/18 |
- |
16-89851361-C-T |
FANCA |
c.1371G>A |
p.G457= |
Synonymous |
15/43 |
- |
9-139407905-G-A |
NOTCH1 |
c.2292C>T |
p.N764= |
Synonymous |
14/34 |
- |
2-47637323-T-G |
MSH2 |
c.457T>G |
p.S153A |
Missense |
3/16 |
- |
2-47637308-G-A |
MSH2 |
c.442G>A |
p.V148M |
Missense |
3/16 |
- |
2-47637346-G-T |
MSH2 |
c.480G>T |
p.Q160H |
Missense |
3/16 |
- |
2-47657041-C-G |
MSH2 |
c.1237C>G |
p.Q413E |
Missense |
7/16 |
- |
2-47637406-T-G |
MSH2 |
c.540T>G |
p.D180E |
Missense |
3/16 |
- |
2-47637496-G-T |
MSH2 |
c.630G>T |
p.M210I |
Missense |
3/16 |
- |
10-43606867-C-G |
RET |
c.1476C>G |
p.T492= |
Synonymous |
7/20 |
- |
17-41245309-G-A |
BRCA1 |
c.2239C>T |
p.P747S |
Missense |
10/23 |
- |
17-37673781-C-T |
CDK12 |
c.2935C>T |
p.R979* |
Nonsense |
10/14 |
- |
3-10070374-G-A |
FANCD2 |
c.33G>A |
p.E11= |
Synonymous |
2/44 |
- |
3-10108976-A-G |
FANCD2 |
c.2469A>G |
p.Q823= |
Synonymous |
26/44 |
- |
3-10123089-C-T |
FANCD2 |
c.3165C>T |
p.Y1055= |
Synonymous |
32/44 |
- |
3-178919273-A-G |
PIK3CA |
c.758A>G |
p.K253R |
Missense |
4/21 |
- |
13-32910458-A-G |
BRCA2 |
c.1966A>G |
p.T656A |
Missense |
11/27 |
- |
19-40741895-G-A |
AKT2 |
c.1077C>T |
p.F359= |
Synonymous |
11/14 |
- |
14-45636218-C-G |
FANCM |
c.1854C>G |
p.V618= |
Synonymous |
11/23 |
- |
2-128051179-C-G |
ERCC3 |
c.144G>C |
p.E48D |
Missense |
2/15 |
- |
20-36022377-G-A |
SRC |
c.430G>A |
p.D144N |
Missense |
6/14 |
- |
5-80064741-C-T |
MSH3 |
c.2172C>T |
p.D724= |
Synonymous |
15/24 |
- |
17-29676257-G-A |
NF1 |
c.7309G>A |
p.A2437T |
Missense |
49/58 |
- |
1-120458722-T-C |
NOTCH2 |
c.6623A>G |
p.Q2208R |
Missense |
34/34 |
- |
11-108115621-G-T |
ATM |
c.769G>T |
p.E257* |
Nonsense |
7/63 |
- |
17-37667793-C-G |
CDK12 |
c.2678C>G |
p.T893R |
Missense |
8/14 |
- |
22-24135837-G-A |
SMARCB1 |
c.324G>A |
p.K108= |
Synonymous |
3/9 |
- |
9-135804191-G-A |
TSC1 |
c.69C>T |
p.D23= |
Synonymous |
3/23 |
- |
13-103504507-G-A |
ERCC5 |
c.128G>A |
p.R43Q |
Missense |
2/15 |
- |
1-27056192-C-T |
ARID1A |
c.1188C>T |
p.G396= |
Synonymous |
2/20 |
- |
11-22646890-T-C |
FANCF |
c.467A>G |
p.N156S |
Missense |
1/1 |
- |
12-56481604-G-A |
ERBB3 |
c.639G>A |
p.Q213= |
Synonymous |
6/28 |
- |
1-27100182-G-C |
ARID1A |
c.3978G>C |
p.P1326= |
Synonymous |
16/20 |
- |
5-80064754-C-G |
MSH3 |
c.2185C>G |
p.H729D |
Missense |
15/24 |
- |
4-55127370-G-A |
PDGFRA |
c.158G>A |
p.S53N |
Missense |
3/23 |
- |
8-30949395-G-A |
WRN |
c.1879G>A |
p.V627I |
Missense |
16/35 |
- |
6-35434083-G-A |
FANCE |
c.1572G>A |
p.R524= |
Synonymous |
10/10 |
- |
1-65303662-A-G |
JAK1 |
c.3093T>C |
p.D1031= |
Synonymous |
22/25 |
- |
13-32915216-AGAT-A |
BRCA2 |
c.6724_6726delGAT |
p.D2242del |
InFrameDeletion |
11/27 |
- |
4-1807484-G-T |
FGFR3 |
c.1653G>T |
p.L551= |
Synonymous |
13/18 |
- |
16-343706-C-T |
AXIN1 |
c.1968G>A |
p.T656= |
Synonymous |
8/11 |
- |
17-37673738-C-A |
CDK12 |
c.2892C>A |
p.I964= |
Synonymous |
10/14 |
- |
5-80074590-A-G |
MSH3 |
c.2370A>G |
p.R790= |
Synonymous |
17/24 |
- |
7-148511171-C-T |
EZH2 |
c.1731G>A |
p.P577= |
Synonymous |
15/20 |
- |
13-103514444-C-T |
BIVM-ERCC5 |
c.2307C>T |
p.H769= |
Synonymous |
16/23 |
- |
12-121416729-G-A |
HNF1A |
c.158G>A |
p.G53D |
Missense |
1/10 |
- |
22-24145509-C-A |
SMARCB1 |
c.528C>A |
p.I176= |
Synonymous |
5/9 |
- |
16-339513-G-A |
AXIN1 |
c.2389C>T |
p.R797C |
Missense |
10/11 |
- |
5-112176410-T-A |
APC |
c.5119T>A |
p.S1707T |
Missense |
16/16 |
- |
2-29416519-C-G |
ALK |
c.4434G>C |
p.M1478I |
Missense |
29/29 |
- |
1-65335002-C-T |
JAK1 |
c.639G>A |
p.K213= |
Synonymous |
6/25 |
- |
1-11186697-G-A |
MTOR |
c.6508C>T |
p.R2170W |
Missense |
46/58 |
- |
1-11288886-G-A |
MTOR |
c.2869C>T |
p.R957W |
Missense |
19/58 |
- |
13-32900673-G-A |
BRCA2 |
c.554G>A |
p.G185E |
Missense |
7/27 |
- |
17-37673757-A-G |
CDK12 |
c.2911A>G |
p.T971A |
Missense |
10/14 |
- |
3-10081025-G-A |
FANCD2 |
c.554G>A |
p.R185K |
Missense |
8/44 |
- |
13-103518719-C-T |
ERCC5 |
c.2307C>T |
p.F769= |
Synonymous |
10/15 |
- |
12-56478841-G-A |
ERBB3 |
c.297G>A |
p.L99= |
Synonymous |
3/28 |
- |
3-37092108-C-T |
MLH1 |
c.2235C>T |
p.N745= |
Synonymous |
19/19 |
- |
19-4101253-C-T |
MAP2K2 |
c.554G>A |
p.R185Q |
Missense |
5/11 |
- |
14-75513256-C-T |
MLH3 |
c.3103G>A |
p.E1035K |
Missense |
2/13 |
- |
13-32971136-G-A |
BRCA2 |
c.9603G>A |
p.G3201= |
Synonymous |
26/27 |
- |
4-1801487-G-A |
FGFR3 |
c.393G>A |
p.S131= |
Synonymous |
4/18 |
- |
15-89844664-C-T |
FANCI |
c.2997C>T |
p.S999= |
Synonymous |
27/38 |
- |
15-89848374-G-T |
FANCI |
c.3087G>T |
p.M1029I |
Missense |
29/38 |
- |
1-156846206-G-A |
NTRK1 |
c.1647G>A |
p.A549= |
Synonymous |
14/17 |
- |
3-10107177-A-G |
FANCD2 |
c.2268A>G |
p.L756= |
Synonymous |
24/44 |
- |
10-123260350-C-T |
FGFR2 |
c.1551G>A |
p.K517= |
Synonymous |
11/18 |
- |
10-123260353-C-A |
FGFR2 |
c.1548G>T |
p.V516= |
Synonymous |
11/18 |
- |
15-66774163-G-A |
MAP2K1 |
c.639G>A |
p.G213= |
Synonymous |
6/11 |
- |
14-68352687-G-A |
RAD51B |
c.554G>A |
p.C185Y |
Missense |
6/11 |
- |
2-47707929-T-G |
MSH2 |
c.2553T>G |
p.L851= |
Synonymous |
15/16 |
- |
2-58390589-A-C |
FANCL |
c.755T>G |
p.F252C |
Missense |
9/14 |
- |
9-139401289-C-G |
NOTCH1 |
c.3780G>C |
p.V1260= |
Synonymous |
23/34 |
- |
8-128753200-C-T |
MYC |
c.1361C>T |
p.A454V |
Missense |
3/3 |
- |
2-215645901-C-A |
BARD1 |
c.697G>T |
p.E233* |
Nonsense |
4/11 |
- |
14-75498874-C-T |
MLH3 |
c.3724G>A |
p.E1242K |
Missense |
8/13 |
- |
5-112176469-A-G |
APC |
c.5178A>G |
p.E1726= |
Synonymous |
16/16 |
- |
16-89851371-G-A |
FANCA |
c.1361C>T |
p.A454V |
Missense |
15/43 |
- |
17-37618383-C-T |
CDK12 |
c.59C>T |
p.T20I |
Missense |
1/14 |
- |
2-29443623-G-A |
ALK |
c.3594C>T |
p.L1198= |
Synonymous |
23/29 |
- |
14-104177421-C-A |
XRCC3 |
c.4G>T |
p.D2Y |
Missense |
4/10 |
- |
11-47256343-G-A |
DDB2 |
c.738G>A |
p.T246= |
Synonymous |
6/10 |
- |
3-142272757-T-C |
ATR |
c.2442A>G |
p.E814= |
Synonymous |
11/47 |
- |
3-142281821-A-G |
ATR |
c.423T>C |
p.I141= |
Synonymous |
4/47 |
- |
4-1803394-G-A |
FGFR3 |
c.663G>A |
p.S221= |
Synonymous |
6/18 |
- |
16-348042-C-A |
AXIN1 |
c.1464G>T |
p.G488= |
Synonymous |
6/11 |
- |
12-46245077-G-A |
ARID2 |
c.3171G>A |
p.S1057= |
Synonymous |
15/21 |
- |
10-50678232-T-C |
ERCC6 |
c.3774A>G |
p.K1258= |
Synonymous |
18/21 |
- |
10-50690820-C-T |
ERCC6 |
c.2082G>A |
p.P694= |
Synonymous |
10/21 |
- |
9-5089688-T-C |
JAK2 |
c.2586T>C |
p.S862= |
Synonymous |
20/25 |
- |
1-156844766-C-G |
NTRK1 |
c.1320C>G |
p.N440K |
Missense |
11/17 |
- |
10-50724316-C-T |
PGBD3 |
c.845G>A |
p.C282Y |
Missense |
2/2 |
- |
19-45860621-G-C |
ERCC2 |
c.1386C>G |
p.S462= |
Synonymous |
15/23 |
- |
1-11272474-G-T |
MTOR |
c.3456C>A |
p.A1152= |
Synonymous |
23/58 |
- |
8-30948372-C-T |
WRN |
c.1743C>T |
p.F581= |
Synonymous |
15/35 |
- |
14-45668083-A-G |
FANCM |
c.5953A>G |
p.I1985V |
Missense |
22/23 |
- |
5-112173613-C-T |
APC |
c.2322C>T |
p.D774= |
Synonymous |
16/16 |
- |
2-39487918-G-A |
MAP4K3 |
c.2137C>T |
p.H713Y |
Missense |
29/34 |
- |
14-104177398-A-G |
XRCC3 |
c.27T>C |
p.N9= |
Synonymous |
4/10 |
- |
5-112102050-A-G |
APC |
c.163A>G |
p.I55V |
Missense |
3/16 |
- |
17-37673752-T-C |
CDK12 |
c.2906T>C |
p.F969S |
Missense |
10/14 |
- |
8-128750682-C-G |
MYC |
c.219C>G |
p.T73= |
Synonymous |
2/3 |
- |
19-40748442-A-C |
AKT2 |
c.440T>G |
p.V147G |
Missense |
5/14 |
- |
19-4110573-C-T |
MAP2K2 |
c.384G>A |
p.P128= |
Synonymous |
3/11 |
- |
4-55156720-A-T |
PDGFRA |
c.3121A>T |
p.S1041C |
Missense |
22/23 |
- |
17-63533531-G-A |
AXIN2 |
c.1623C>T |
p.C541= |
Synonymous |
6/11 |
- |
15-91290661-A-G |
BLM |
c.39A>G |
p.L13= |
Synonymous |
2/22 |
- |
5-80024719-C-T |
MSH3 |
c.1503C>T |
p.C501= |
Synonymous |
10/24 |
- |
1-120548125-G-A |
NOTCH2 |
c.242C>T |
p.A81V |
Missense |
3/34 |
- |
8-31000196-T-A |
WRN |
c.3288T>A |
p.V1096= |
Synonymous |
27/35 |
- |
13-32913435-C-A |
BRCA2 |
c.4943C>A |
p.A1648E |
Missense |
11/27 |
- |
2-39552721-A-G |
MAP4K3 |
c.856T>C |
p.L286= |
Synonymous |
12/34 |
- |
14-45620631-A-G |
FANCM |
c.950A>G |
p.Q317R |
Missense |
5/23 |
- |
17-11984829-G-A |
MAP2K4 |
c.375G>A |
p.G125= |
Synonymous |
3/11 |
- |
12-121431489-G-T |
HNF1A |
c.693G>T |
p.T231= |
Synonymous |
3/10 |
- |
8-128753030-G-A |
MYC |
c.1191G>A |
p.P397= |
Synonymous |
3/3 |
- |
19-40741949-G-A |
AKT2 |
c.1023C>T |
p.Y341= |
Synonymous |
11/14 |
- |
X-76953085-C-T |
ATRX |
c.228G>A |
p.S76= |
Synonymous |
4/35 |
- |
9-97934367-T-C |
FANCC |
c.408A>G |
p.Q136= |
Synonymous |
5/15 |
- |
17-33430474-T-C |
RAD51D |
c.666A>G |
p.E222= |
Synonymous |
7/10 |
- |
14-68353879-G-A |
RAD51B |
c.714G>A |
p.E238= |
Synonymous |
7/11 |
- |
2-29498326-T-G |
ALK |
c.1854A>C |
p.G618= |
Synonymous |
10/29 |
- |
19-4099308-G-A |
MAP2K2 |
c.810C>T |
p.P270= |
Synonymous |
7/11 |
- |
16-89836262-G-T |
FANCA |
c.2487C>A |
p.S829= |
Synonymous |
26/43 |
- |
13-103518036-A-G |
ERCC5 |
c.1974A>G |
p.Q658= |
Synonymous |
9/15 |
- |
13-103519119-G-A |
ERCC5 |
c.2457G>A |
p.R819= |
Synonymous |
11/15 |
- |
5-112164621-A-G |
APC |
c.1695A>G |
p.E565= |
Synonymous |
14/16 |
- |
5-112175023-A-G |
APC |
c.3732A>G |
p.Q1244= |
Synonymous |
16/16 |
- |
9-139390676-A-C |
NOTCH1 |
c.7515T>G |
p.P2505= |
Synonymous |
34/34 |
- |
16-14031695-A-G |
ERCC4 |
c.1884A>G |
p.E628= |
Synonymous |
9/11 |
- |
17-29652884-T-C |
NF1 |
c.4882T>C |
p.L1628= |
Synonymous |
37/58 |
- |
13-32905100-A-G |
BRCA2 |
c.726A>G |
p.K242= |
Synonymous |
9/27 |
- |
10-43596023-C-T |
RET |
c.190C>T |
p.P64S |
Missense |
2/20 |
- |
17-37667822-C-A |
CDK12 |
c.2707C>A |
p.P903T |
Missense |
8/14 |
- |
14-45644627-T-C |
FANCM |
c.2670T>C |
p.F890= |
Synonymous |
14/23 |
- |
2-47710049-T-C |
MSH2 |
c.2766T>C |
p.F922= |
Synonymous |
16/16 |
- |
12-46246205-G-A |
ARID2 |
c.4299G>A |
p.E1433= |
Synonymous |
15/21 |
- |
X-76891470-G-T |
ATRX |
c.4635C>A |
p.T1545= |
Synonymous |
16/35 |
- |
13-103520493-C-T |
ERCC5 |
c.2564C>T |
p.A855V |
Missense |
12/15 |
- |
16-2134384-C-T |
TSC2 |
c.4161C>T |
p.S1387= |
Synonymous |
34/42 |
- |
10-50669577-G-A |
ERCC6 |
c.3804C>T |
p.H1268= |
Synonymous |
19/21 |
- |
1-118165602-C-T |
TENT5C |
c.112C>T |
p.R38* |
Nonsense |
2/2 |
- |
1-65300248-T-C |
JAK1 |
c.3462A>G |
p.K1154= |
Synonymous |
25/25 |
- |
19-11123738-C-T |
SMARCA4 |
c.2388C>T |
p.L796= |
Synonymous |
16/35 |
- |
14-45642365-C-A |
FANCM |
c.2268C>A |
p.R756= |
Synonymous |
13/23 |
- |
8-48733405-C-G |
PRKDC |
c.9208G>C |
p.G3070R |
missense_variant |
67/87 |
- |
8-48733405-C-T |
PRKDC |
c.9208G>A |
p.G3070R |
missense_variant |
67/87 |
- |
5-131895050-C-T |
RAD50 |
c.204C>T |
p.H68= |
Synonymous |
2/25 |
- |
6-138196892-G-A |
TNFAIP3 |
c.554G>A |
p.G185E |
Missense |
4/9 |
- |
1-11194438-T-C |
MTOR |
c.5216A>G |
p.H1739R |
Missense |
37/58 |
- |
12-46244117-A-T |
ARID2 |
c.2211A>T |
p.G737= |
Synonymous |
15/21 |
- |
1-120468421-C-T |
NOTCH2 |
c.4018G>A |
p.A1340T |
Missense |
25/34 |
- |
1-11303326-A-G |
MTOR |
c.1257T>C |
p.H419= |
Synonymous |
9/58 |
- |
8-30982068-G-A |
WRN |
c.2661G>A |
p.K887= |
Synonymous |
22/35 |
- |
2-58392996-C-T |
FANCL |
c.554G>A |
p.S185N |
Missense |
8/14 |
- |
1-11300580-G-A |
MTOR |
c.1566C>T |
p.Y522= |
Synonymous |
11/58 |
- |
11-125514064-C-A |
CHEK1 |
c.1002C>A |
p.Y334* |
Nonsense |
10/13 |
- |
6-35427135-C-T |
FANCE |
c.1141C>T |
p.R381C |
Missense |
6/10 |
- |
9-139400292-G-A |
NOTCH1 |
c.4056C>T |
p.C1352= |
Synonymous |
25/34 |
- |
17-29677238-C-T |
NF1 |
c.7359C>T |
p.C2453= |
Synonymous |
50/58 |
- |
1-156841540-C-T |
NTRK1 |
c.843C>T |
p.N281= |
Synonymous |
7/17 |
- |
17-37649139-C-G |
CDK12 |
c.2244C>G |
p.D748E |
Missense |
4/14 |
- |
1-118166395-G-A |
TENT5C |
c.905G>A |
p.S302N |
Missense |
2/2 |
- |
X-14883079-C-T |
FANCB |
c.554G>A |
p.G185E |
Missense |
3/10 |
- |
3-10106096-C-G |
FANCD2 |
c.2004C>G |
p.S668= |
Synonymous |
22/44 |
- |
3-10106515-T-C |
FANCD2 |
c.2124T>C |
p.F708= |
Synonymous |
23/44 |
- |
2-128044502-C-T |
ERCC3 |
c.1119G>A |
p.Q373= |
Synonymous |
8/15 |
- |
14-68352666-A-G |
RAD51B |
c.533A>G |
p.H178R |
Missense |
6/11 |
- |
1-11293473-T-C |
MTOR |
c.2403A>G |
p.T801= |
Synonymous |
15/58 |
- |
5-80071555-A-G |
MSH3 |
c.2296A>G |
p.T766A |
Missense |
16/24 |
- |
17-37628016-G-C |
CDK12 |
c.1931G>C |
p.S644T |
Missense |
2/14 |
- |
8-48691177-G-A |
PRKDC |
c.11695C>T |
p.L3899F |
Missense |
84/87 |
- |
8-48691177-G-C |
PRKDC |
c.11695C>G |
p.L3899V |
Missense |
84/87 |
- |
12-69218191-A-T |
MDM2 |
c.407A>T |
p.E136V |
Missense |
6/11 |
- |
12-69218195-T-G |
MDM2 |
c.411T>G |
p.G137= |
Synonymous |
6/11 |
- |
12-69218199-A-G |
MDM2 |
c.415A>G |
p.S139G |
Missense |
6/11 |
- |
X-76918936-G-C |
ATRX |
c.4055C>G |
p.S1352C |
Missense |
12/35 |
- |
8-145737632-G-A |
RECQL4 |
c.3132C>T |
p.T1044= |
Synonymous |
19/22 |
- |
8-145737632-G-C |
RECQL4 |
c.3132C>G |
p.T1044T |
Missense |
19/22 |
- |
3-178917488-C-T |
PIK3CA |
c.363C>T |
p.I121= |
Synonymous |
3/21 |
- |
3-37067356-AGG-TGT |
MLH1 |
c.1267_1269delAGGinsTGT |
p.R423C |
Missense |
12/19 |
- |
11-108216625-T-C |
ATM |
c.8574T>C |
p.T2858= |
Synonymous |
58/63 |
- |
3-10115019-G-C |
FANCD2 |
c.2688G>C |
p.T896= |
Synonymous |
28/44 |
- |
8-133941328-G-A |
TG |
c.4707G>A |
p.Q1569= |
Synonymous |
23/48 |
- |
2-58425735-T-C |
FANCL |
c.534A>G |
p.T178= |
Synonymous |
7/14 |
- |
1-156849796-A-G |
NTRK1 |
c.2052A>G |
p.G684= |
Synonymous |
16/17 |
- |
2-29416750-A-G |
ALK |
c.4203T>C |
p.Y1401= |
Synonymous |
29/29 |
- |
20-36030945-T-C |
SRC |
c.1224T>C |
p.F408= |
Synonymous |
12/14 |
- |
15-40512906-A-G |
BUB1B |
c.3099A>G |
p.K1033= |
Synonymous |
23/23 |
- |
2-47607108-G-A |
EPCAM |
c.858G>A |
p.L286= |
Synonymous |
7/9 |
- |
16-89836358-C-T |
FANCA |
c.2391G>A |
p.A797= |
Synonymous |
26/43 |
- |
1-120548152-C-T |
NOTCH2 |
c.215G>A |
p.R72H |
Missense |
3/34 |
- |
6-138199671-G-A |
TNFAIP3 |
c.1089G>A |
p.G363= |
Synonymous |
7/9 |
- |
17-37618887-G-A |
CDK12 |
c.563G>A |
p.R188Q |
Missense |
1/14 |
- |
19-45864807-G-T |
ERCC2 |
c.1212C>A |
p.A404= |
Synonymous |
12/23 |
- |
15-66727431-C-A |
MAP2K1 |
c.147C>A |
p.R49= |
Synonymous |
2/11 |
- |
15-66727431-C-G |
MAP2K1 |
c.147C>G |
p.R49= |
Synonymous |
2/11 |
- |
X-76920240-T-C |
ATRX |
c.3837A>G |
p.E1279= |
Synonymous |
11/35 |
- |
5-56179395-G-A |
MAP3K1 |
c.3708G>A |
p.P1236= |
Synonymous |
15/20 |
- |
16-89839752-C-T |
FANCA |
c.1941G>A |
p.E647= |
Synonymous |
22/43 |
- |
16-89857880-C-T |
FANCA |
c.1290G>A |
p.A430= |
Synonymous |
14/43 |
- |
1-27023805-C-T |
ARID1A |
c.911C>T |
p.S304L |
Missense |
1/20 |
- |
17-37866130-G-A |
ERBB2 |
c.639G>A |
p.Q213= |
Synonymous |
5/27 |
- |
7-140476852-G-C |
BRAF |
c.1554C>G |
p.G518= |
Synonymous |
13/18 |
- |
3-142242985-C-T |
ATR |
c.4002G>A |
p.Q1334= |
Synonymous |
22/47 |
- |
2-58431336-T-C |
FANCL |
c.400A>G |
p.S134G |
Missense |
6/14 |
- |
17-37665997-C-G |
CDK12 |
c.2649C>G |
p.L883= |
Synonymous |
7/14 |
- |
17-63554100-C-T |
AXIN2 |
c.639G>A |
p.G213= |
Synonymous |
2/11 |
- |
5-112177770-C-T |
APC |
c.6479C>T |
p.T2160I |
Missense |
16/16 |
- |
3-10108991-G-A |
FANCD2 |
c.2484G>A |
p.K828= |
Synonymous |
26/44 |
- |
14-45606317-G-A |
FANCM |
c.554G>A |
p.R185K |
Missense |
2/23 |
- |
15-89847117-C-T |
FANCI |
c.3029C>T |
p.T1010I |
Missense |
28/38 |
- |
11-32450054-T-C |
WT1 |
c.758A>G |
p.Q258R |
Missense |
2/10 |
- |
1-27106587-C-T |
ARID1A |
c.6198C>T |
p.N2066= |
Synonymous |
20/20 |
- |
7-116340220-C-T |
MET |
c.1082C>T |
p.A361V |
Missense |
2/21 |
- |
12-12871199-G-A |
CDKN1B |
c.426G>A |
p.T142= |
Synonymous |
1/3 |
- |
5-131953907-T-C |
RAD50 |
c.3310T>C |
p.Y1104H |
Missense |
21/25 |
- |
5-112155008-C-A |
APC |
c.1279C>A |
p.H427N |
Missense |
10/16 |
- |
1-27101593-A-G |
ARID1A |
c.4875A>G |
p.I1625M |
Missense |
18/20 |
- |
17-11984760-G-A |
MAP2K4 |
c.306G>A |
p.L102= |
Synonymous |
3/11 |
- |
11-125514132-G-A |
CHEK1 |
c.1070G>A |
p.S357N |
Missense |
10/13 |
- |
9-35078630-G-T |
FANCG |
c.279C>A |
p.A93= |
Synonymous |
3/14 |
- |
8-48845613-A-G |
PRKDC |
c.1743T>C |
p.L581= |
Synonymous |
16/87 |
- |
1-45797851-C-T |
MUTYH |
c.836G>A |
p.R279Q |
Missense |
10/16 |
- |
1-156838334-G-A |
NTRK1 |
c.612G>A |
p.S204= |
Synonymous |
6/17 |
- |
1-156844403-C-T |
NTRK1 |
c.1236C>T |
p.D412= |
Synonymous |
10/17 |
- |
8-30938476-C-T |
WRN |
c.933C>T |
p.P311= |
Synonymous |
9/35 |
- |
17-37884051-C-T |
ERBB2 |
c.3522C>T |
p.S1174= |
Synonymous |
27/27 |
- |
17-37884054-A-T |
ERBB2 |
c.3525A>T |
p.P1175= |
Synonymous |
27/27 |
- |
17-37884099-C-T |
ERBB2 |
c.3570C>T |
p.A1190= |
Synonymous |
27/27 |
- |
17-37884111-C-T |
ERBB2 |
c.3582C>T |
p.P1194= |
Synonymous |
27/27 |
- |
17-37884114-G-A |
ERBB2 |
c.3585G>A |
p.E1195= |
Synonymous |
27/27 |
- |
17-33428250-G-A |
RAD51D |
c.873C>T |
p.R291= |
Synonymous |
9/10 |
- |
8-48792199-A-C |
PRKDC |
c.5087T>G |
p.L1695L |
Missense |
40/87 |
- |
5-112176541-C-G |
APC |
c.5250C>G |
p.V1750= |
Synonymous |
16/16 |
- |
1-11298583-G-A |
MTOR |
c.1878C>T |
p.C626= |
Synonymous |
12/58 |
- |
1-11308074-G-A |
MTOR |
c.918C>T |
p.F306= |
Synonymous |
7/58 |
- |
3-14199808-T-C |
XPC |
c.1575A>G |
p.I525M |
Missense |
9/16 |
- |
1-11300604-G-A |
MTOR |
c.1542C>T |
p.S514= |
Synonymous |
11/58 |
- |
2-128038065-C-T |
ERCC3 |
c.1485G>A |
p.E495= |
Synonymous |
9/15 |
- |
3-14200021-A-G |
XPC |
c.1362T>C |
p.D454= |
Synonymous |
9/16 |
- |
2-29462633-G-A |
ALK |
c.2268C>T |
p.G756= |
Synonymous |
13/29 |
- |
10-123258109-T-C |
FGFR2 |
c.1572A>G |
p.T524= |
Synonymous |
12/18 |
- |
8-145737821-C-T |
RECQL4 |
c.3009G>A |
p.V1003V |
synonymous_variant |
18/22 |
- |
5-56168790-A-G |
MAP3K1 |
c.1644A>G |
p.Q548= |
Synonymous |
9/20 |
- |
2-47702387-A-G |
MSH2 |
c.1983A>G |
p.K661= |
Synonymous |
12/16 |
- |
15-89821950-G-A |
FANCI |
c.1326G>A |
p.E442= |
Synonymous |
14/38 |
- |
15-89858542-C-T |
FANCI |
c.3846C>T |
p.S1282= |
Synonymous |
37/38 |
- |
9-139391594-G-C |
NOTCH1 |
c.6597C>G |
p.P2199= |
Synonymous |
34/34 |
- |
X-14883564-A-G |
FANCB |
c.69T>C |
p.L23= |
Synonymous |
3/10 |
- |
X-66931341-A-G |
AR |
c.1983A>G |
p.T661= |
Synonymous |
4/8 |
- |
10-50678829-A-G |
ERCC6 |
c.3177T>C |
p.S1059= |
Synonymous |
18/21 |
- |
8-48842554-T-C |
PRKDC |
c.1911A>G |
p.K637= |
Synonymous |
18/87 |
- |
16-343691-G-A |
AXIN1 |
c.1983C>T |
p.P661= |
Synonymous |
8/11 |
- |
2-48025875-A-G |
MSH6 |
c.753A>G |
p.I251M |
Missense |
4/10 |
- |
19-45860929-G-A |
ERCC2 |
c.1266C>T |
p.D422= |
Synonymous |
13/23 |
- |
5-80083459-G-A |
MSH3 |
c.2511G>A |
p.L837= |
Synonymous |
18/24 |
- |
1-27106975-C-T |
ARID1A |
c.6586C>T |
p.L2196= |
Synonymous |
20/20 |
- |
5-80057395-G-A |
MSH3 |
c.1794G>A |
p.S598= |
Synonymous |
13/24 |
- |
2-39570587-A-G |
MAP4K3 |
c.252T>C |
p.D84= |
Synonymous |
4/34 |
- |
1-65323363-G-A |
JAK1 |
c.1434C>T |
p.T478= |
Synonymous |
10/25 |
- |
8-48691349-C-A |
PRKDC |
c.11588G>T |
p.R3863L |
missense_variant |
83/87 |
- |
8-48691349-C-T |
PRKDC |
c.11588G>A |
p.R3863H |
missense_variant |
83/87 |
- |
9-5081812-C-G |
JAK2 |
c.2522C>G |
p.P841R |
Missense |
19/25 |
- |
3-41266883-G-A |
CTNNB1 |
c.554G>A |
p.R185K |
Missense |
5/15 |
- |
7-140476802-G-A |
BRAF |
c.1604C>T |
p.S535F |
Missense |
13/18 |
- |
2-215661807-C-T |
BARD1 |
c.193G>A |
p.G65R |
Missense |
2/11 |
- |
14-45644919-G-A |
FANCM |
c.2962G>A |
p.A988T |
Missense |
14/23 |
- |
15-89803995-C-T |
FANCI |
c.209C>T |
p.T70I |
Missense |
4/38 |
- |
1-156811905-C-T |
INSRR |
c.3396G>A |
p.G1132= |
Synonymous |
19/22 |
- |
17-29663852-T-C |
NF1 |
c.6347T>C |
p.L2116P |
Missense |
42/58 |
- |
9-97864059-A-G |
FANCC |
c.1607T>C |
p.L536P |
Missense |
15/15 |
- |
10-50724813-T-C |
PGBD3 |
c.348A>G |
p.K116= |
Synonymous |
2/2 |
- |
16-2124365-C-T |
TSC2 |
c.2520C>T |
p.A840= |
Synonymous |
22/42 |
- |
15-89838176-T-G |
FANCI |
c.2487T>G |
p.L829= |
Synonymous |
24/38 |
- |
17-37681061-A-T |
CDK12 |
c.3230A>T |
p.E1077V |
Missense |
12/14 |
- |
15-40462838-C-T |
BUB1B |
c.340C>T |
p.R114* |
Nonsense |
4/23 |
- |
7-55269024-A-T |
EGFR |
c.3090A>T |
p.S1030= |
Synonymous |
25/28 |
- |
16-14042177-C-T |
ERCC4 |
c.2724C>T |
p.V908= |
Synonymous |
11/11 |
- |
20-36024565-G-A |
SRC |
c.554G>A |
p.G185D |
Missense |
8/14 |
- |
2-215632322-C-T |
BARD1 |
c.1452G>A |
p.K484= |
Synonymous |
6/11 |
- |
9-35075747-G-A |
FANCG |
c.1148C>T |
p.S383F |
Missense |
10/14 |
- |
7-6037002-T-C |
PMS2 |
c.758A>G |
p.E253G |
Missense |
7/15 |
- |
9-139399813-G-A |
NOTCH1 |
c.4535C>T |
p.A1512V |
Missense |
25/34 |
- |
3-10140463-C-T |
FANCD2 |
c.4245C>T |
p.D1415= |
Synonymous |
43/44 |
- |
7-116397775-C-T |
MET |
c.2049C>T |
p.N683= |
Synonymous |
8/21 |
- |
12-46285659-G-A |
ARID2 |
c.5019G>A |
p.E1673= |
Synonymous |
17/21 |
- |
8-134025926-C-T |
TG |
c.6479C>T |
p.T2160I |
Missense |
37/48 |
- |
11-22646724-C-A |
FANCF |
c.633G>T |
p.Q211H |
Missense |
1/1 |
- |
9-35075692-C-T |
FANCG |
c.1203G>A |
p.A401= |
Synonymous |
10/14 |
- |
13-48951136-C-G |
RB1 |
c.1298C>G |
p.A433G |
Missense |
13/27 |
- |
1-120458998-A-G |
NOTCH2 |
c.6347T>C |
p.L2116P |
Missense |
34/34 |
- |
5-131977996-C-T |
RAD50 |
c.3879C>T |
p.I1293= |
Synonymous |
25/25 |
- |
8-133899175-AA-GC |
TG |
c.1558_1559delAAinsGC |
p.K520A |
Missense |
9/48 |
- |
14-75515930-C-G |
MLH3 |
c.429G>C |
p.G143= |
Synonymous |
2/13 |
- |
16-396798-G-A |
AXIN1 |
c.228C>T |
p.A76= |
Synonymous |
2/11 |
- |
17-29490255-C-T |
NF1 |
c.340C>T |
p.L114= |
Synonymous |
4/58 |
- |
10-50724408-G-A |
PGBD3 |
c.753C>T |
p.S251= |
Synonymous |
2/2 |
- |
19-45858105-C-T |
ERCC2 |
c.1548G>A |
p.V516= |
Synonymous |
17/23 |
- |
13-103514939-C-T |
BIVM-ERCC5 |
c.2802C>T |
p.H934= |
Synonymous |
16/23 |
- |
1-120479908-G-A |
NOTCH2 |
c.3519C>T |
p.C1173= |
Synonymous |
21/34 |
- |
17-47688746-C-T |
SPOP |
c.554G>A |
p.R185Q |
Missense |
6/10 |
- |
2-29443611-T-C |
ALK |
c.3606A>G |
p.G1202= |
Synonymous |
23/29 |
- |
3-37090424-T-C |
MLH1 |
c.2019T>C |
p.F673= |
Synonymous |
18/19 |
- |
8-145737143-G-A |
RECQL4 |
c.3423C>T |
p.C1141C |
synonymous_variant |
21/22 |
- |
12-56477600-T-C |
ERBB3 |
c.148T>C |
p.Y50H |
Missense |
2/28 |
- |
1-120458866-T-C |
NOTCH2 |
c.6479A>G |
p.Y2160C |
Missense |
34/34 |
- |
11-125523667-A-G |
CHEK1 |
c.1260A>G |
p.R420= |
Synonymous |
12/13 |
- |
17-29683994-C-T |
NF1 |
c.7755C>T |
p.S2585= |
Synonymous |
53/58 |
- |
9-5090870-A-C |
JAK2 |
c.3018A>C |
p.E1006D |
Missense |
22/25 |
- |
13-103520518-C-T |
ERCC5 |
c.2589C>T |
p.T863= |
Synonymous |
12/15 |
- |
6-138200310-G-A |
TNFAIP3 |
c.1728G>A |
p.P576= |
Synonymous |
7/9 |
- |
10-50678550-A-C |
ERCC6 |
c.3456T>G |
p.G1152= |
Synonymous |
18/21 |
- |
2-215593541-G-A |
BARD1 |
c.2193C>T |
p.R731= |
Synonymous |
11/11 |
- |
10-123244914-G-A |
FGFR2 |
c.2190C>T |
p.N730= |
Synonymous |
16/18 |
- |
9-139393577-G-A |
NOTCH1 |
c.6069C>T |
p.A2023= |
Synonymous |
32/34 |
- |
10-43612064-C-T |
RET |
c.2169C>T |
p.N723= |
Synonymous |
12/20 |
- |
15-40494661-T-C |
BUB1B |
c.1623T>C |
p.N541= |
Synonymous |
13/23 |
- |
6-35426163-T-A |
FANCE |
c.1059T>A |
p.P353= |
Synonymous |
5/10 |
- |
12-69214138-A-G |
MDM2 |
c.342A>G |
p.V114= |
Synonymous |
5/11 |
- |
13-32913047-C-T |
BRCA2 |
c.4555C>T |
p.P1519S |
Missense |
11/27 |
- |
9-139400979-C-T |
NOTCH1 |
c.4014G>A |
p.A1338= |
Synonymous |
24/34 |
- |
16-89806452-A-G |
FANCA |
c.3884T>C |
p.L1295S |
Missense |
39/43 |
- |
1-65332781-T-C |
JAK1 |
c.758A>G |
p.N253S |
Missense |
7/25 |
- |
1-11194500-C-T |
MTOR |
c.5154G>A |
p.Q1718= |
Synonymous |
37/58 |
- |
7-6037025-C-A |
PMS2 |
c.735G>T |
p.L245= |
Synonymous |
7/15 |
- |
8-48792132-C-A |
PRKDC |
c.5152G>T |
p.V1718F |
missense_variant |
40/87 |
- |
8-48792132-C-T |
PRKDC |
c.5152G>A |
p.V1718I |
missense_variant |
40/87 |
- |
8-48812982-C-A |
PRKDC |
c.3315G>T |
p.V1105= |
Synonymous |
28/87 |
- |
5-67575431-T-A |
PIK3R1 |
c.504T>A |
p.D168E |
Missense |
5/16 |
- |
8-30999075-C-T |
WRN |
c.3097C>T |
p.R1033W |
Missense |
25/35 |
- |
10-43604658-A-G |
RET |
c.1243A>G |
p.R415G |
Missense |
6/20 |
- |
X-14871244-T-C |
FANCB |
c.1243A>G |
p.K415E |
Missense |
6/10 |
- |
17-29527580-C-A |
NF1 |
c.1029C>A |
p.F343L |
Missense |
9/58 |
- |
8-30982438-A-C |
WRN |
c.2747A>C |
p.H916P |
Missense |
23/35 |
- |
10-50723681-C-A |
PGBD3 |
c.1480G>T |
p.V494F |
Missense |
2/2 |
- |
9-35075569-G-C |
FANCG |
c.1326C>G |
p.T442= |
Synonymous |
10/14 |
- |
10-123276882-A-G |
FGFR2 |
c.1035T>C |
p.G345= |
Synonymous |
8/18 |
- |
7-55214428-G-A |
EGFR |
c.554G>A |
p.G185D |
Missense |
4/28 |
- |
16-2122924-C-G |
TSC2 |
c.2295C>G |
p.A765= |
Synonymous |
21/42 |
- |
17-29665117-C-T |
NF1 |
c.6779C>T |
p.S2260F |
Missense |
45/58 |
- |
17-29576035-G-A |
NF1 |
c.4008G>A |
p.Q1336= |
Synonymous |
30/58 |
- |
8-48802880-C-G |
PRKDC |
c.4006G>C |
p.V1336L |
missense_variant |
33/87 |
- |
8-48802880-C-T |
PRKDC |
c.4006G>A |
p.V1336I |
missense_variant |
33/87 |
- |
12-46245888-T-C |
ARID2 |
c.3982T>C |
p.L1328= |
Synonymous |
15/21 |
- |
15-91303504-C-G |
BLM |
c.1215C>G |
p.N405K |
Missense |
6/22 |
- |
15-91303504-C-A |
BLM |
c.1215C>A |
p.N405K |
Missense |
6/22 |
- |
3-14200347-A-T |
XPC |
c.1036T>A |
p.S346T |
Missense |
9/16 |
- |
11-47259728-G-A |
DDB2 |
c.1228G>A |
p.A410T |
Missense |
9/10 |
- |
5-112179709-A-T |
APC |
c.8418A>T |
p.P2806= |
Synonymous |
16/16 |
- |
5-112174132-T-C |
APC |
c.2841T>C |
p.C947= |
Synonymous |
16/16 |
- |
16-2129341-C-T |
TSC2 |
c.3196C>T |
p.L1066F |
Missense |
28/42 |
- |
5-112177900-T-C |
APC |
c.6609T>C |
p.V2203= |
Synonymous |
16/16 |
- |
17-37646821-C-G |
CDK12 |
c.1943C>G |
p.T648S |
Missense |
3/14 |
- |
17-37872774-C-T |
ERBB2 |
c.1653C>T |
p.P551= |
Synonymous |
14/27 |
- |
8-48776016-T-C |
PRKDC |
c.5693A>G |
p.Q1897Q |
Missense |
43/87 |
- |
9-135787811-G-A |
TSC1 |
c.771C>T |
p.I257= |
Synonymous |
9/23 |
- |
3-142204113-C-T |
ATR |
c.6090G>A |
p.A2030= |
Synonymous |
36/47 |
- |
5-112178650-A-G |
APC |
c.7359A>G |
p.R2453= |
Synonymous |
16/16 |
- |
5-112178653-A-G |
APC |
c.7362A>G |
p.R2454= |
Synonymous |
16/16 |
- |
2-212288994-C-T |
ERBB4 |
c.2752G>A |
p.G918R |
Missense |
23/28 |
- |
16-89816239-G-A |
FANCA |
c.3138C>T |
p.H1046= |
Synonymous |
32/43 |
- |
17-37868649-G-C |
ERBB2 |
c.1096G>C |
p.G366R |
Missense |
9/27 |
- |
3-142176453-A-G |
ATR |
c.7648T>C |
p.L2550= |
Synonymous |
45/47 |
- |
9-5126770-A-C |
JAK2 |
c.3378A>C |
p.I1126= |
Synonymous |
25/25 |
- |
5-112178657-T-C |
APC |
c.7366T>C |
p.L2456= |
Synonymous |
16/16 |
- |
5-112178645-T-C |
APC |
c.7354T>C |
p.L2452= |
Synonymous |
16/16 |
- |
5-112178647-A-G |
APC |
c.7356A>G |
p.L2452= |
Synonymous |
16/16 |
- |
5-112179712-T-G |
APC |
c.8421T>G |
p.T2807= |
Synonymous |
16/16 |
- |
5-112179737-C-A |
APC |
c.8446C>A |
p.R2816= |
Synonymous |
16/16 |
- |
14-75513785-G-T |
MLH3 |
c.2574C>A |
p.L858= |
Synonymous |
2/13 |
- |
1-11199680-G-A |
MTOR |
c.4908C>T |
p.I1636= |
Synonymous |
35/58 |
- |
3-10074529-A-C |
FANCD2 |
c.78A>C |
p.Q26H |
Missense |
3/44 |
- |
17-37672018-A-T |
CDK12 |
c.2803A>T |
p.I935F |
Missense |
9/14 |
- |
12-56487911-G-A |
ERBB3 |
c.1642G>A |
p.E548K |
Missense |
14/28 |
- |
1-11300412-A-G |
MTOR |
c.1734T>C |
p.D578= |
Synonymous |
11/58 |
- |
15-66727482-C-T |
MAP2K1 |
c.198C>T |
p.D66= |
Synonymous |
2/11 |
- |
9-139400020-G-A |
NOTCH1 |
c.4328C>T |
p.P1443L |
Missense |
25/34 |
- |
2-128017002-A-C |
ERCC3 |
c.2087T>G |
p.M696R |
Missense |
14/15 |
- |
2-128046977-T-C |
ERCC3 |
c.758A>G |
p.E253G |
Missense |
6/15 |
- |
1-11300433-C-G |
MTOR |
c.1713G>C |
p.T571= |
Synonymous |
11/58 |
- |
1-11300439-G-A |
MTOR |
c.1707C>T |
p.G569= |
Synonymous |
11/58 |
- |
8-145741888-G-C |
RECQL4 |
c.615C>G |
p.P205= |
Synonymous |
5/22 |
- |
7-148507471-T-C |
EZH2 |
c.1983A>G |
p.K661= |
Synonymous |
17/20 |
- |
7-55269451-C-T |
EGFR |
c.3138C>T |
p.T1046= |
Synonymous |
26/28 |
- |
7-116339510-C-A |
MET |
c.372C>A |
p.T124= |
Synonymous |
2/21 |
- |
1-118166420-T-C |
TENT5C |
c.930T>C |
p.L310= |
Synonymous |
2/2 |
- |
1-118166381-T-G |
TENT5C |
c.891T>G |
p.A297= |
Synonymous |
2/2 |
- |
10-50681527-T-C |
ERCC6 |
c.2705A>G |
p.N902S |
Missense |
14/21 |
- |
16-89825004-G-A |
FANCA |
c.2962C>T |
p.L988= |
Synonymous |
30/43 |
- |
1-11269417-T-C |
MTOR |
c.3753A>G |
p.E1251= |
Synonymous |
25/58 |
- |
1-118166387-A-G |
TENT5C |
c.897A>G |
p.E299= |
Synonymous |
2/2 |
- |
19-11169528-G-T |
SMARCA4 |
c.4598G>T |
p.C1533F |
Missense |
32/35 |
- |
1-118166417-C-T |
TENT5C |
c.927C>T |
p.I309= |
Synonymous |
2/2 |
- |
1-156843526-A-C |
NTRK1 |
c.952A>C |
p.N318H |
Missense |
8/17 |
- |
4-55131096-G-A |
PDGFRA |
c.639G>A |
p.E213= |
Synonymous |
5/23 |
- |
19-45856017-C-T |
ERCC2 |
c.1889G>A |
p.S630N |
Missense |
20/23 |
- |
17-63553940-C-G |
AXIN2 |
c.799G>C |
p.V267L |
Missense |
2/11 |
- |
17-47700131-C-T |
SPOP |
c.42G>A |
p.S14= |
Synonymous |
2/10 |
- |
16-89805644-T-G |
FANCA |
c.4064A>C |
p.H1355P |
Missense |
41/43 |
- |
7-55273281-C-A |
EGFR |
c.3604C>A |
p.P1202T |
Missense |
28/28 |
- |
1-118166450-T-C |
TENT5C |
c.960T>C |
p.C320= |
Synonymous |
2/2 |
- |
12-121435425-G-A |
HNF1A |
c.1458G>A |
p.Q486= |
Synonymous |
7/10 |
- |
10-123324992-A-C |
FGFR2 |
c.336T>G |
p.T112= |
Synonymous |
3/18 |
- |
1-118166429-G-T |
TENT5C |
c.939G>T |
p.V313= |
Synonymous |
2/2 |
- |
1-65332750-C-T |
JAK1 |
c.789G>A |
p.T263= |
Synonymous |
7/25 |
- |
17-63534323-C-G |
AXIN2 |
c.1198G>C |
p.E400Q |
Missense |
5/11 |
- |
14-45644401-C-A |
FANCM |
c.2444C>A |
p.S815* |
Nonsense |
14/23 |
- |
15-40462846-T-C |
BUB1B |
c.348T>C |
p.Y116= |
Synonymous |
4/23 |
- |
2-39477834-C-T |
MAP4K3 |
c.2610G>A |
p.L870= |
Synonymous |
34/34 |
- |
3-142274870-T-C |
ATR |
c.2190A>G |
p.E730= |
Synonymous |
10/47 |
- |
8-30945364-G-C |
WRN |
c.1504G>C |
p.G502R |
Missense |
12/35 |
- |
11-108192049-G-A |
ATM |
c.6474G>A |
p.M2158I |
Missense |
45/63 |
- |
2-30142865-C-G |
ALK |
c.661G>C |
p.G221R |
Missense |
1/29 |
- |
14-45645779-T-C |
FANCM |
c.3822T>C |
p.Y1274= |
Synonymous |
14/23 |
- |
4-1807299-C-G |
FGFR3 |
c.1548C>G |
p.D516E |
Missense |
12/18 |
- |
19-40741880-C-T |
AKT2 |
c.1092G>A |
p.M364I |
Missense |
11/14 |
- |
17-63534416-T-G |
AXIN2 |
c.1105A>C |
p.T369P |
Missense |
5/11 |
- |
9-35077067-G-A |
FANCG |
c.678C>T |
p.D226= |
Synonymous |
6/14 |
- |
10-50686482-C-G |
ERCC6 |
c.2204G>C |
p.R735P |
Missense |
11/21 |
- |
8-48792106-C-G |
PRKDC |
c.5180G>C |
p.R1726S |
Missense |
40/87 |
- |
16-89849321-A-G |
FANCA |
c.1572T>C |
p.S524= |
Synonymous |
17/43 |
- |
8-48777161-T-C |
PRKDC |
c.5526A>G |
p.I1842= |
Synonymous |
42/87 |
- |
11-108106455-T-C |
ATM |
c.390T>C |
p.D130= |
Synonymous |
5/63 |
- |
11-108106485-T-C |
ATM |
c.420T>C |
p.D140= |
Synonymous |
5/63 |
- |
1-11182063-G-C |
MTOR |
c.6783C>G |
p.L2261= |
Synonymous |
48/58 |
- |
1-11182084-C-T |
MTOR |
c.6762G>A |
p.R2254= |
Synonymous |
48/58 |
- |
1-11182105-G-A |
MTOR |
c.6741C>T |
p.H2247= |
Synonymous |
48/58 |
- |
1-11182126-A-C |
MTOR |
c.6720T>G |
p.V2240= |
Synonymous |
48/58 |
- |
1-11182153-C-G |
MTOR |
c.6693G>C |
p.S2231= |
Synonymous |
48/58 |
- |
1-11182156-T-C |
MTOR |
c.6690A>G |
p.L2230= |
Synonymous |
48/58 |
- |
1-11182158-A-G |
MTOR |
c.6688T>C |
p.L2230= |
Synonymous |
48/58 |
- |
19-11152114-C-A |
SMARCA4 |
c.4302C>A |
p.D1434E |
Missense |
30/35 |
- |
19-11152114-C-T |
SMARCA4 |
c.4302C>T |
p.D1434= |
Synonymous |
30/35 |
- |
5-112170761-T-C |
APC |
c.1857T>C |
p.T619= |
Synonymous |
15/16 |
- |
5-112170764-T-C |
APC |
c.1860T>C |
p.L620= |
Synonymous |
15/16 |
- |
1-11187714-G-A |
MTOR |
c.6183C>T |
p.G2061= |
Synonymous |
44/58 |
- |
1-11187737-A-G |
MTOR |
c.6160T>C |
p.L2054= |
Synonymous |
44/58 |
- |
1-11187774-T-C |
MTOR |
c.6123A>G |
p.E2041= |
Synonymous |
44/58 |
- |
1-11187789-A-G |
MTOR |
c.6108T>C |
p.R2036= |
Synonymous |
44/58 |
- |
1-11190610-C-G |
MTOR |
c.5589G>C |
p.S1863= |
Synonymous |
39/58 |
- |
1-11190613-T-C |
MTOR |
c.5586A>G |
p.P1862= |
Synonymous |
39/58 |
- |
1-11190640-G-A |
MTOR |
c.5559C>T |
p.A1853= |
Synonymous |
39/58 |
- |
1-11190643-C-T |
MTOR |
c.5556G>A |
p.E1852= |
Synonymous |
39/58 |
- |
1-11190667-G-T |
MTOR |
c.5532C>A |
p.T1844= |
Synonymous |
39/58 |
- |
1-11190690-T-A |
MTOR |
c.5509A>T |
p.T1837S |
Missense |
39/58 |
- |
1-11190706-G-T |
MTOR |
c.5493C>A |
p.A1831= |
Synonymous |
39/58 |
- |
1-11190706-G-A |
MTOR |
c.5493C>T |
p.A1831= |
Synonymous |
39/58 |
- |
1-11190718-G-A |
MTOR |
c.5481C>T |
p.N1827= |
Synonymous |
39/58 |
- |
5-112154680-A-C |
APC |
c.951A>C |
p.S317= |
Synonymous |
10/16 |
- |
5-112154713-T-C |
APC |
c.984T>C |
p.D328= |
Synonymous |
10/16 |
- |
5-112154743-T-C |
APC |
c.1014T>C |
p.S338= |
Synonymous |
10/16 |
- |
5-112154773-A-G |
APC |
c.1044A>G |
p.R348= |
Synonymous |
10/16 |
- |
5-112170731-A-G |
APC |
c.1827A>G |
p.V609= |
Synonymous |
15/16 |
- |
5-112170737-T-A |
APC |
c.1833T>A |
p.G611= |
Synonymous |
15/16 |
- |
5-112170743-T-G |
APC |
c.1839T>G |
p.L613= |
Synonymous |
15/16 |
- |
5-112170750-T-C |
APC |
c.1846T>C |
p.L616= |
Synonymous |
15/16 |
- |
5-112174151-T-G |
APC |
c.2860T>G |
p.L954V |
Missense |
16/16 |
- |
5-112174153-A-G |
APC |
c.2862A>G |
p.L954= |
Synonymous |
16/16 |
- |
5-112174159-C-T |
APC |
c.2868C>T |
p.Y956= |
Synonymous |
16/16 |
- |
5-112174177-T-C |
APC |
c.2886T>C |
p.D962= |
Synonymous |
16/16 |
- |
5-112174194-G-C |
APC |
c.2903G>C |
p.S968T |
Missense |
16/16 |
- |
5-112174207-T-A |
APC |
c.2916T>A |
p.G972= |
Synonymous |
16/16 |
- |
5-112174222-T-C |
APC |
c.2931T>C |
p.G977= |
Synonymous |
16/16 |
- |
5-112174270-G-A |
APC |
c.2979G>A |
p.K993= |
Synonymous |
16/16 |
- |
5-112174288-A-G |
APC |
c.2997A>G |
p.Q999= |
Synonymous |
16/16 |
- |
5-112174291-C-T |
APC |
c.3000C>T |
p.Y1000= |
Synonymous |
16/16 |
- |
5-112174312-A-G |
APC |
c.3021A>G |
p.K1007= |
Synonymous |
16/16 |
- |
5-112174318-T-C |
APC |
c.3027T>C |
p.H1009= |
Synonymous |
16/16 |
- |
5-112176388-G-T |
APC |
c.5097G>T |
p.E1699D |
Missense |
16/16 |
- |
5-112176405-C-T |
APC |
c.5114C>T |
p.T1705I |
Missense |
16/16 |
- |
5-112176413-G-A |
APC |
c.5122G>A |
p.V1708I |
Missense |
16/16 |
- |
5-112176420-T-G |
APC |
c.5129T>G |
p.I1710R |
Missense |
16/16 |
- |
5-112176439-T-C |
APC |
c.5148T>C |
p.N1716= |
Synonymous |
16/16 |
- |
5-112176454-T-A |
APC |
c.5163T>A |
p.G1721= |
Synonymous |
16/16 |
- |
5-112176472-C-T |
APC |
c.5181C>T |
p.C1727= |
Synonymous |
16/16 |
- |
5-112176475-T-C |
APC |
c.5184T>C |
p.I1728= |
Synonymous |
16/16 |
- |
5-112176496-G-A |
APC |
c.5205G>A |
p.G1735= |
Synonymous |
16/16 |
- |
5-112176502-T-C |
APC |
c.5211T>C |
p.S1737= |
Synonymous |
16/16 |
- |
5-112178581-T-C |
APC |
c.7290T>C |
p.D2430= |
Synonymous |
16/16 |
- |
5-112178593-A-G |
APC |
c.7302A>G |
p.R2434= |
Synonymous |
16/16 |
- |
5-112178598-T-C |
APC |
c.7307T>C |
p.V2436A |
Missense |
16/16 |
- |
5-112178614-A-T |
APC |
c.7323A>T |
p.S2441= |
Synonymous |
16/16 |
- |
5-112178632-T-C |
APC |
c.7341T>C |
p.A2447= |
Synonymous |
16/16 |
- |
5-112178671-T-C |
APC |
c.7380T>C |
p.A2460= |
Synonymous |
16/16 |
- |
1-118166477-T-C |
TENT5C |
c.987T>C |
p.T329= |
Synonymous |
2/2 |
- |
1-118166516-G-A |
TENT5C |
c.1026G>A |
p.A342= |
Synonymous |
2/2 |
- |
1-118166567-G-A |
TENT5C |
c.1077G>A |
p.P359= |
Synonymous |
2/2 |
- |
1-118166570-C-T |
TENT5C |
c.1080C>T |
p.A360= |
Synonymous |
2/2 |
- |
1-120458169-A-G |
NOTCH2 |
c.7176T>C |
p.Y2392= |
Synonymous |
34/34 |
- |
1-120458178-C-T |
NOTCH2 |
c.7167G>A |
p.Q2389= |
Synonymous |
34/34 |
- |
1-120458181-T-G |
NOTCH2 |
c.7164A>C |
p.S2388= |
Synonymous |
34/34 |
- |
1-120458231-C-T |
NOTCH2 |
c.7114G>A |
p.A2372T |
Missense |
34/34 |
- |
1-120458235-G-C |
NOTCH2 |
c.7110C>G |
p.L2370= |
Synonymous |
34/34 |
- |
1-120458237-G-C |
NOTCH2 |
c.7108C>G |
p.L2370V |
Missense |
34/34 |
- |
1-120462007-G-T |
NOTCH2 |
c.5709C>A |
p.A1903= |
Synonymous |
31/34 |
- |
1-120462013-T-C |
NOTCH2 |
c.5703A>G |
p.A1901= |
Synonymous |
31/34 |
- |
1-120462019-T-A |
NOTCH2 |
c.5697A>T |
p.A1899= |
Synonymous |
31/34 |
- |
1-11288839-G-C |
MTOR |
c.2916C>G |
p.V972= |
Synonymous |
19/58 |
- |
1-11288842-A-C |
MTOR |
c.2913T>G |
p.V971= |
Synonymous |
19/58 |
- |
1-11288854-A-G |
MTOR |
c.2901T>C |
p.H967= |
Synonymous |
19/58 |
- |
1-11288857-A-G |
MTOR |
c.2898T>C |
p.H966= |
Synonymous |
19/58 |
- |
1-11288866-T-A |
MTOR |
c.2889A>T |
p.S963= |
Synonymous |
19/58 |
- |
1-11288869-C-T |
MTOR |
c.2886G>A |
p.Q962= |
Synonymous |
19/58 |
- |
1-11288872-G-A |
MTOR |
c.2883C>T |
p.D961= |
Synonymous |
19/58 |
- |
1-11288892-G-A |
MTOR |
c.2863C>T |
p.L955= |
Synonymous |
19/58 |
- |
16-2124314-G-T |
TSC2 |
c.2469G>T |
p.L823= |
Synonymous |
22/42 |
- |
1-11288911-T-G |
MTOR |
c.2844A>C |
p.P948= |
Synonymous |
19/58 |
- |
1-11300382-C-G |
MTOR |
c.1764G>C |
p.T588= |
Synonymous |
11/58 |
- |
1-11300388-G-A |
MTOR |
c.1758C>T |
p.L586= |
Synonymous |
11/58 |
- |
1-11300407-C-G |
MTOR |
c.1739G>C |
p.G580A |
Missense |
11/58 |
- |
1-11300445-A-G |
MTOR |
c.1701T>C |
p.S567= |
Synonymous |
11/58 |
- |
1-11300448-G-A |
MTOR |
c.1698C>T |
p.A566= |
Synonymous |
11/58 |
- |
1-11300457-A-G |
MTOR |
c.1689T>C |
p.H563= |
Synonymous |
11/58 |
- |
1-11300460-G-A |
MTOR |
c.1686C>T |
p.A562= |
Synonymous |
11/58 |
- |
1-11300469-C-T |
MTOR |
c.1677G>A |
p.K559= |
Synonymous |
11/58 |
- |
1-11300487-G-C |
MTOR |
c.1659C>G |
p.R553= |
Synonymous |
11/58 |
- |
1-11300490-A-G |
MTOR |
c.1656T>C |
p.L552= |
Synonymous |
11/58 |
- |
1-11303266-T-C |
MTOR |
c.1317A>G |
p.L439= |
Synonymous |
9/58 |
- |
7-116339426-C-A |
MET |
c.288C>A |
p.F96L |
Missense |
2/21 |
- |
7-116339429-A-T |
MET |
c.291A>T |
p.P97= |
Synonymous |
2/21 |
- |
7-116339434-A-G |
MET |
c.296A>G |
p.Q99R |
Missense |
2/21 |
- |
7-116339458-T-C |
MET |
c.320T>C |
p.L107S |
Missense |
2/21 |
- |
7-116339468-T-G |
MET |
c.330T>G |
p.G110= |
Synonymous |
2/21 |
- |
7-116339480-T-C |
MET |
c.342T>C |
p.D114= |
Synonymous |
2/21 |
- |
7-116423499-A-G |
MET |
c.3774A>G |
p.Q1258= |
Synonymous |
19/21 |
- |
7-116423514-G-A |
MET |
c.3789G>A |
p.K1263= |
Synonymous |
19/21 |
- |
1-120471666-A-C |
NOTCH2 |
c.3825T>G |
p.S1275= |
Synonymous |
23/34 |
- |
1-118165931-G-A |
TENT5C |
c.441G>A |
p.T147= |
Synonymous |
2/2 |
- |
1-118165937-T-A |
TENT5C |
c.447T>A |
p.T149= |
Synonymous |
2/2 |
- |
1-118165955-C-T |
TENT5C |
c.465C>T |
p.I155= |
Synonymous |
2/2 |
- |
1-118165978-A-G |
TENT5C |
c.488A>G |
p.K163R |
Missense |
2/2 |
- |
1-118165991-G-C |
TENT5C |
c.501G>C |
p.L167= |
Synonymous |
2/2 |
- |
1-118166009-T-C |
TENT5C |
c.519T>C |
p.I173= |
Synonymous |
2/2 |
- |
1-118166015-T-G |
TENT5C |
c.525T>G |
p.R175= |
Synonymous |
2/2 |
- |
1-118166030-T-C |
TENT5C |
c.540T>C |
p.S180= |
Synonymous |
2/2 |
- |
1-118166360-T-C |
TENT5C |
c.870T>C |
p.T290= |
Synonymous |
2/2 |
- |
1-118166369-A-G |
TENT5C |
c.879A>G |
p.Q293= |
Synonymous |
2/2 |
- |
5-112178683-T-C |
APC |
c.7392T>C |
p.S2464= |
Synonymous |
16/16 |
- |
5-112178695-A-T |
APC |
c.7404A>T |
p.S2468= |
Synonymous |
16/16 |
- |
5-112178902-T-C |
APC |
c.7611T>C |
p.S2537= |
Synonymous |
16/16 |
- |
5-112178908-T-A |
APC |
c.7617T>A |
p.L2539= |
Synonymous |
16/16 |
- |
5-112178921-T-G |
APC |
c.7630T>G |
p.S2544A |
Missense |
16/16 |
- |
5-112178923-A-G |
APC |
c.7632A>G |
p.S2544= |
Synonymous |
16/16 |
- |
5-112178935-A-G |
APC |
c.7644A>G |
p.K2548= |
Synonymous |
16/16 |
- |
5-112178941-G-A |
APC |
c.7650G>A |
p.E2550= |
Synonymous |
16/16 |
- |
5-112178956-A-C |
APC |
c.7665A>C |
p.S2555= |
Synonymous |
16/16 |
- |
5-112178959-A-G |
APC |
c.7668A>G |
p.S2556= |
Synonymous |
16/16 |
- |
5-112178974-A-G |
APC |
c.7683A>G |
p.V2561= |
Synonymous |
16/16 |
- |
5-112178977-C-T |
APC |
c.7686C>T |
p.S2562= |
Synonymous |
16/16 |
- |
5-112178998-T-C |
APC |
c.7707T>C |
p.S2569= |
Synonymous |
16/16 |
- |
5-112179007-A-T |
APC |
c.7716A>T |
p.S2572= |
Synonymous |
16/16 |
- |
17-47685282-G-A |
SPOP |
c.668C>T |
p.P223L |
Missense |
7/10 |
- |
1-120462031-A-G |
NOTCH2 |
c.5685T>C |
p.R1895= |
Synonymous |
31/34 |
- |
1-120462034-C-T |
NOTCH2 |
c.5682G>A |
p.K1894= |
Synonymous |
31/34 |
- |
1-120462049-C-T |
NOTCH2 |
c.5667G>A |
p.R1889= |
Synonymous |
31/34 |
- |
1-120462055-G-A |
NOTCH2 |
c.5661C>T |
p.Y1887= |
Synonymous |
31/34 |
- |
1-120462085-A-G |
NOTCH2 |
c.5631T>C |
p.G1877= |
Synonymous |
31/34 |
- |
1-120462091-C-G |
NOTCH2 |
c.5625G>C |
p.R1875= |
Synonymous |
31/34 |
- |
1-120462103-G-T |
NOTCH2 |
c.5613C>A |
p.A1871= |
Synonymous |
31/34 |
- |
1-120462106-C-T |
NOTCH2 |
c.5610G>A |
p.Q1870= |
Synonymous |
31/34 |
- |
1-120462109-G-A |
NOTCH2 |
c.5607C>T |
p.L1869= |
Synonymous |
31/34 |
- |
1-120462121-C-T |
NOTCH2 |
c.5595G>A |
p.Q1865= |
Synonymous |
31/34 |
- |
12-121432072-A-G |
HNF1A |
c.819A>G |
p.K273= |
Synonymous |
4/10 |
- |
12-121432094-C-T |
HNF1A |
c.841C>T |
p.L281= |
Synonymous |
4/10 |
- |
12-121432108-G-C |
HNF1A |
c.855G>C |
p.T285= |
Synonymous |
4/10 |
- |
12-121432111-C-T |
HNF1A |
c.858C>T |
p.Y286= |
Synonymous |
4/10 |
- |
10-123325040-G-A |
FGFR2 |
c.288C>T |
p.G96= |
Synonymous |
3/18 |
- |
10-123325166-T-G |
FGFR2 |
c.162A>C |
p.P54= |
Synonymous |
3/18 |
- |
10-123325193-A-G |
FGFR2 |
c.135T>C |
p.S45= |
Synonymous |
3/18 |
- |
11-125503074-A-T |
CHEK1 |
c.441A>T |
p.S147= |
Synonymous |
6/13 |
- |
12-121432162-C-T |
HNF1A |
c.909C>T |
p.S303= |
Synonymous |
4/10 |
- |
12-121432168-T-C |
HNF1A |
c.915T>C |
p.P305= |
Synonymous |
4/10 |
- |
12-121432181-C-A |
HNF1A |
c.928C>A |
p.P310T |
Missense |
4/10 |
- |
10-123239407-A-C |
FGFR2 |
c.2430T>G |
p.P810= |
Synonymous |
18/18 |
- |
5-131939638-A-C |
RAD50 |
c.2424A>C |
p.K808N |
Missense |
15/25 |
- |
10-123239443-A-C |
FGFR2 |
c.2394T>G |
p.F798L |
Missense |
18/18 |
- |
10-123239452-A-G |
FGFR2 |
c.2385T>C |
p.D795= |
Synonymous |
18/18 |
- |
10-123239470-A-G |
FGFR2 |
c.2367T>C |
p.S789= |
Synonymous |
18/18 |
- |
9-135778019-T-C |
TSC1 |
c.2364A>G |
p.E788= |
Synonymous |
18/23 |
- |
5-131939127-A-T |
RAD50 |
c.2343A>T |
p.E781D |
Missense |
14/25 |
- |
12-121437117-C-A |
HNF1A |
c.1548C>A |
p.G516= |
Synonymous |
8/10 |
- |
12-121437093-G-A |
HNF1A |
c.1524G>A |
p.E508= |
Synonymous |
8/10 |
- |
12-121437084-C-T |
HNF1A |
c.1515C>T |
p.H505= |
Synonymous |
8/10 |
- |
12-121435455-G-A |
HNF1A |
c.1488G>A |
p.L496= |
Synonymous |
7/10 |
- |
10-123260434-T-C |
FGFR2 |
c.1467A>G |
p.E489= |
Synonymous |
11/18 |
- |
5-131931314-A-G |
RAD50 |
c.2019A>G |
p.L673= |
Synonymous |
13/25 |
- |
5-131931332-A-C |
RAD50 |
c.2037A>C |
p.S679= |
Synonymous |
13/25 |
- |
5-131931335-T-C |
RAD50 |
c.2040T>C |
p.C680= |
Synonymous |
13/25 |
- |
5-131931344-T-C |
RAD50 |
c.2049T>C |
p.V683= |
Synonymous |
13/25 |
- |
5-131931356-T-A |
RAD50 |
c.2061T>A |
p.V687= |
Synonymous |
13/25 |
- |
5-131931380-A-G |
RAD50 |
c.2085A>G |
p.Q695= |
Synonymous |
13/25 |
- |
5-131931392-T-C |
RAD50 |
c.2097T>C |
p.S699= |
Synonymous |
13/25 |
- |
5-131931395-T-C |
RAD50 |
c.2100T>C |
p.D700= |
Synonymous |
13/25 |
- |
5-131931404-T-C |
RAD50 |
c.2109T>C |
p.S703= |
Synonymous |
13/25 |
- |
5-131931407-A-G |
RAD50 |
c.2112A>G |
p.K704= |
Synonymous |
13/25 |
- |
5-131931411-C-A |
RAD50 |
c.2116C>A |
p.R706= |
Synonymous |
13/25 |
- |
5-131931413-A-G |
RAD50 |
c.2118A>G |
p.R706= |
Synonymous |
13/25 |
- |
5-131939082-C-T |
RAD50 |
c.2298C>T |
p.N766= |
Synonymous |
14/25 |
- |
5-131939094-A-G |
RAD50 |
c.2310A>G |
p.E770= |
Synonymous |
14/25 |
- |
5-131939097-A-G |
RAD50 |
c.2313A>G |
p.Q771= |
Synonymous |
14/25 |
- |
9-135781339-C-T |
TSC1 |
c.1626G>A |
p.K542= |
Synonymous |
15/23 |
- |
9-135781100-C-T |
TSC1 |
c.1865G>A |
p.R622K |
Missense |
15/23 |
- |
9-135781103-A-C |
TSC1 |
c.1862T>G |
p.I621S |
Missense |
15/23 |
- |
9-135781111-A-G |
TSC1 |
c.1854T>C |
p.H618= |
Synonymous |
15/23 |
- |
9-135781120-T-A |
TSC1 |
c.1845A>T |
p.T615= |
Synonymous |
15/23 |
- |
9-135781132-T-G |
TSC1 |
c.1833A>C |
p.A611= |
Synonymous |
15/23 |
- |
9-135781144-A-G |
TSC1 |
c.1821T>C |
p.L607= |
Synonymous |
15/23 |
- |
9-135781156-C-T |
TSC1 |
c.1809G>A |
p.P603= |
Synonymous |
15/23 |
- |
9-135781171-G-A |
TSC1 |
c.1794C>T |
p.S598= |
Synonymous |
15/23 |
- |
9-135781188-T-C |
TSC1 |
c.1777A>G |
p.R593G |
Missense |
15/23 |
- |
9-135781190-G-C |
TSC1 |
c.1775C>G |
p.T592R |
Missense |
15/23 |
- |
9-135781193-G-T |
TSC1 |
c.1772C>A |
p.P591Q |
Missense |
15/23 |
- |
9-135781201-A-G |
TSC1 |
c.1764T>C |
p.I588= |
Synonymous |
15/23 |
- |
9-135781207-A-G |
TSC1 |
c.1758T>C |
p.C586= |
Synonymous |
15/23 |
- |
9-135781337-A-T |
TSC1 |
c.1628T>A |
p.L543H |
Missense |
15/23 |
- |
11-125503092-A-G |
CHEK1 |
c.459A>G |
p.T153= |
Synonymous |
6/13 |
- |
11-125503102-T-C |
CHEK1 |
c.469T>C |
p.Y157H |
Missense |
6/13 |
- |
11-125503119-T-C |
CHEK1 |
c.486T>C |
p.R162= |
Synonymous |
6/13 |
- |
11-125503140-T-G |
CHEK1 |
c.507T>G |
p.G169= |
Synonymous |
6/13 |
- |
11-125503149-A-T |
CHEK1 |
c.516A>T |
p.P172= |
Synonymous |
6/13 |
- |
11-125503161-A-G |
CHEK1 |
c.528A>G |
p.P176= |
Synonymous |
6/13 |
- |
11-125503164-A-G |
CHEK1 |
c.531A>G |
p.E177= |
Synonymous |
6/13 |
- |
11-125503170-G-A |
CHEK1 |
c.537G>A |
p.L179= |
Synonymous |
6/13 |
- |
5-131931308-T-G |
RAD50 |
c.2013T>G |
p.T671= |
Synonymous |
13/25 |
- |
10-123325169-C-G |
FGFR2 |
c.159G>C |
p.A53= |
Synonymous |
3/18 |
- |
1-27105597-G-A |
ARID1A |
c.5208G>A |
p.V1736= |
Synonymous |
20/20 |
- |
9-135781357-T-C |
TSC1 |
c.1608A>G |
p.L536= |
Synonymous |
15/23 |
- |
10-123260446-C-T |
FGFR2 |
c.1455G>A |
p.K485= |
Synonymous |
11/18 |
- |
9-135781380-C-A |
TSC1 |
c.1585G>T |
p.A529S |
Missense |
15/23 |
- |
9-135781405-G-A |
TSC1 |
c.1560C>T |
p.H520= |
Synonymous |
15/23 |
- |
9-135781408-G-A |
TSC1 |
c.1557C>T |
p.T519= |
Synonymous |
15/23 |
- |
9-135781423-A-G |
TSC1 |
c.1542T>C |
p.G514= |
Synonymous |
15/23 |
- |
9-135781426-T-A |
TSC1 |
c.1539A>T |
p.P513= |
Synonymous |
15/23 |
- |
9-135801046-T-C |
TSC1 |
c.291A>G |
p.I97M |
Missense |
5/23 |
- |
9-135801055-A-C |
TSC1 |
c.282T>G |
p.G94= |
Synonymous |
5/23 |
- |
9-135801063-A-G |
TSC1 |
c.274T>C |
p.L92= |
Synonymous |
5/23 |
- |
9-139391860-T-G |
NOTCH1 |
c.6331A>C |
p.R2111= |
Synonymous |
34/34 |
- |
9-139391867-G-A |
NOTCH1 |
c.6324C>T |
p.D2108= |
Synonymous |
34/34 |
- |
9-139391873-A-G |
NOTCH1 |
c.6318T>C |
p.H2106= |
Synonymous |
34/34 |
- |
9-139391879-G-A |
NOTCH1 |
c.6312C>T |
p.R2104= |
Synonymous |
34/34 |
- |
9-139391897-G-C |
NOTCH1 |
c.6294C>G |
p.R2098= |
Synonymous |
34/34 |
- |
9-139391915-A-G |
NOTCH1 |
c.6276T>C |
p.H2092= |
Synonymous |
34/34 |
- |
9-139396792-G-A |
NOTCH1 |
c.5316C>T |
p.G1772= |
Synonymous |
28/34 |
- |
9-139396852-G-A |
NOTCH1 |
c.5256C>T |
p.C1752= |
Synonymous |
28/34 |
- |
9-139396870-A-G |
NOTCH1 |
c.5238T>C |
p.L1746= |
Synonymous |
28/34 |
- |
7-140501292-G-A |
BRAF |
c.780C>T |
p.R260= |
Synonymous |
6/18 |
- |
7-140501319-A-G |
BRAF |
c.753T>C |
p.C251= |
Synonymous |
6/18 |
- |
3-142224017-A-G |
ATR |
c.5160T>C |
p.A1720= |
Synonymous |
29/47 |
- |
3-142224059-G-A |
ATR |
c.5118C>T |
p.I1706= |
Synonymous |
29/47 |
- |
3-142224068-T-C |
ATR |
c.5109A>G |
p.K1703= |
Synonymous |
29/47 |
- |
3-142224071-T-C |
ATR |
c.5106A>G |
p.L1702= |
Synonymous |
29/47 |
- |
3-142224074-A-G |
ATR |
c.5103T>C |
p.S1701= |
Synonymous |
29/47 |
- |
3-142224080-T-C |
ATR |
c.5097A>G |
p.E1699= |
Synonymous |
29/47 |
- |
3-142224083-T-G |
ATR |
c.5094A>C |
p.A1698= |
Synonymous |
29/47 |
- |
3-142224086-C-T |
ATR |
c.5091G>A |
p.K1697= |
Synonymous |
29/47 |
- |
3-142224089-T-C |
ATR |
c.5088A>G |
p.R1696= |
Synonymous |
29/47 |
- |
3-142224091-T-G |
ATR |
c.5086A>C |
p.R1696= |
Synonymous |
29/47 |
- |
3-142224101-G-T |
ATR |
c.5076C>A |
p.V1692= |
Synonymous |
29/47 |
- |
3-142224119-A-T |
ATR |
c.5058T>A |
p.P1686= |
Synonymous |
29/47 |
- |
3-142224122-T-C |
ATR |
c.5055A>G |
p.E1685= |
Synonymous |
29/47 |
- |
9-139399944-G-A |
NOTCH1 |
c.4404C>T |
p.N1468= |
Synonymous |
25/34 |
- |
9-139399947-G-A |
NOTCH1 |
c.4401C>T |
p.C1467= |
Synonymous |
25/34 |
- |
9-139399957-C-T |
NOTCH1 |
c.4391G>A |
p.S1464N |
Missense |
25/34 |
- |
9-139399968-G-A |
NOTCH1 |
c.4380C>T |
p.N1460= |
Synonymous |
25/34 |
- |
9-139399974-C-T |
NOTCH1 |
c.4374G>A |
p.A1458= |
Synonymous |
25/34 |
- |
9-139399981-T-A |
NOTCH1 |
c.4367A>T |
p.E1456V |
Missense |
25/34 |
- |
9-139399992-G-A |
NOTCH1 |
c.4356C>T |
p.P1452= |
Synonymous |
25/34 |
- |
9-139400001-G-A |
NOTCH1 |
c.4347C>T |
p.C1449= |
Synonymous |
25/34 |
- |
9-139400004-C-G |
NOTCH1 |
c.4344G>C |
p.A1448= |
Synonymous |
25/34 |
- |
9-139400017-A-T |
NOTCH1 |
c.4331T>A |
p.L1444Q |
Missense |
25/34 |
- |
9-139400022-C-T |
NOTCH1 |
c.4326G>A |
p.P1442= |
Synonymous |
25/34 |
- |
9-139400028-G-A |
NOTCH1 |
c.4320C>T |
p.I1440= |
Synonymous |
25/34 |
- |
9-139400043-C-G |
NOTCH1 |
c.4305G>C |
p.G1435= |
Synonymous |
25/34 |
- |
9-139400097-G-A |
NOTCH1 |
c.4251C>T |
p.P1417= |
Synonymous |
25/34 |
- |
9-139400103-C-T |
NOTCH1 |
c.4245G>A |
p.L1415= |
Synonymous |
25/34 |
- |
9-139400106-G-A |
NOTCH1 |
c.4242C>T |
p.C1414= |
Synonymous |
25/34 |
- |
9-139400109-A-G |
NOTCH1 |
c.4239T>C |
p.R1413= |
Synonymous |
25/34 |
- |
9-139400118-G-A |
NOTCH1 |
c.4230C>T |
p.P1410= |
Synonymous |
25/34 |
- |
9-139400145-C-G |
NOTCH1 |
c.4203G>C |
p.G1401= |
Synonymous |
25/34 |
- |
9-139400151-G-A |
NOTCH1 |
c.4197C>T |
p.N1399= |
Synonymous |
25/34 |
- |
9-139409942-C-T |
NOTCH1 |
c.1896G>A |
p.G632= |
Synonymous |
11/34 |
- |
9-139409948-C-G |
NOTCH1 |
c.1890G>C |
p.L630= |
Synonymous |
11/34 |
- |
9-139409954-G-T |
NOTCH1 |
c.1884C>A |
p.F628L |
Missense |
11/34 |
- |
7-140434475-C-T |
BRAF |
c.2223G>A |
p.E741= |
Synonymous |
18/18 |
- |
7-140501229-A-T |
BRAF |
c.843T>A |
p.V281= |
Synonymous |
6/18 |
- |
7-140501247-T-C |
BRAF |
c.825A>G |
p.E275= |
Synonymous |
6/18 |
- |
3-142274827-A-G |
ATR |
c.2233T>C |
p.L745= |
Synonymous |
10/47 |
- |
3-142274832-C-T |
ATR |
c.2228G>A |
p.R743K |
Missense |
10/47 |
- |
3-142274836-A-T |
ATR |
c.2224T>A |
p.C742S |
Missense |
10/47 |
- |
3-142274840-G-C |
ATR |
c.2220C>G |
p.L740= |
Synonymous |
10/47 |
- |
4-1808016-G-A |
FGFR3 |
c.1992G>A |
p.E664= |
Synonymous |
15/18 |
- |
7-148507452-A-G |
EZH2 |
c.2002T>C |
p.C668R |
Missense |
17/20 |
- |
3-142275299-C-A |
ATR |
c.2004G>T |
p.R668= |
Synonymous |
9/47 |
- |
2-212288902-G-A |
ERBB4 |
c.2844C>T |
p.D948= |
Synonymous |
23/28 |
- |
2-212288989-T-C |
ERBB4 |
c.2757A>G |
p.K919= |
Synonymous |
23/28 |
- |
2-212426688-G-A |
ERBB4 |
c.2427C>T |
p.H809= |
Synonymous |
20/28 |
- |
2-212426715-G-C |
ERBB4 |
c.2400C>G |
p.P800= |
Synonymous |
20/28 |
- |
2-212426721-A-C |
ERBB4 |
c.2394T>G |
p.L798= |
Synonymous |
20/28 |
- |
2-212426724-T-C |
ERBB4 |
c.2391A>G |
p.Q797= |
Synonymous |
20/28 |
- |
2-212426727-A-C |
ERBB4 |
c.2388T>G |
p.T796= |
Synonymous |
20/28 |
- |
2-212426735-G-A |
ERBB4 |
c.2380C>T |
p.L794= |
Synonymous |
20/28 |
- |
2-212426742-G-A |
ERBB4 |
c.2373C>T |
p.T791= |
Synonymous |
20/28 |
- |
2-212426745-T-G |
ERBB4 |
c.2370A>C |
p.P790= |
Synonymous |
20/28 |
- |
2-212426760-A-T |
ERBB4 |
c.2355T>A |
p.G785= |
Synonymous |
20/28 |
- |
2-212426772-G-A |
ERBB4 |
c.2343C>T |
p.V781= |
Synonymous |
20/28 |
- |
16-2131747-G-A |
TSC2 |
c.3762G>A |
p.S1254= |
Synonymous |
31/42 |
- |
4-1803152-C-T |
FGFR3 |
c.504C>T |
p.A168= |
Synonymous |
5/18 |
- |
2-48027804-G-A |
MSH6 |
c.2682G>A |
p.Q894= |
Synonymous |
4/10 |
- |
3-142274848-C-T |
ATR |
c.2212G>A |
p.V738M |
Missense |
10/47 |
- |
3-142274862-G-A |
ATR |
c.2198C>T |
p.S733F |
Missense |
10/47 |
- |
3-142274865-A-C |
ATR |
c.2195T>G |
p.F732C |
Missense |
10/47 |
- |
3-142274877-A-G |
ATR |
c.2183T>C |
p.L728S |
Missense |
10/47 |
- |
3-142274879-A-G |
ATR |
c.2181T>C |
p.S727= |
Synonymous |
10/47 |
- |
7-148543597-G-T |
EZH2 |
c.211C>A |
p.L71M |
Missense |
3/20 |
- |
7-148543619-T-C |
EZH2 |
c.189A>G |
p.R63= |
Synonymous |
3/20 |
- |
7-148543631-T-C |
EZH2 |
c.177A>G |
p.E59= |
Synonymous |
3/20 |
- |
7-148543644-A-G |
EZH2 |
c.164T>C |
p.I55T |
Missense |
3/20 |
- |
7-148543649-C-A |
EZH2 |
c.159G>T |
p.T53= |
Synonymous |
3/20 |
- |
3-142281093-C-A |
ATR |
c.1151G>T |
p.G384V |
Missense |
4/47 |
- |
7-148515048-C-G |
EZH2 |
c.1161G>C |
p.R387S |
Missense |
10/20 |
- |
4-1806160-G-A |
FGFR3 |
c.1179G>A |
p.V393= |
Synonymous |
9/18 |
- |
7-148514991-T-C |
EZH2 |
c.1218A>G |
p.K406= |
Synonymous |
10/20 |
- |
2-212568896-G-A |
ERBB4 |
c.1222C>T |
p.P408S |
Missense |
11/28 |
- |
7-148514478-T-C |
EZH2 |
c.1246A>G |
p.N416D |
Missense |
11/20 |
- |
3-142280171-G-A |
ATR |
c.1263C>T |
p.S421= |
Synonymous |
5/47 |
- |
4-1807293-C-T |
FGFR3 |
c.1542C>T |
p.A514= |
Synonymous |
12/18 |
- |
16-2124320-T-C |
TSC2 |
c.2475T>C |
p.V825= |
Synonymous |
22/42 |
- |
16-2124344-C-T |
TSC2 |
c.2499C>T |
p.I833= |
Synonymous |
22/42 |
- |
16-2124347-A-T |
TSC2 |
c.2502A>T |
p.S834= |
Synonymous |
22/42 |
- |
16-2124371-A-G |
TSC2 |
c.2526A>G |
p.P842= |
Synonymous |
22/42 |
- |
16-2124374-G-C |
TSC2 |
c.2529G>C |
p.L843= |
Synonymous |
22/42 |
- |
4-1806154-G-A |
FGFR3 |
c.1173G>A |
p.A391= |
Synonymous |
9/18 |
- |
4-1806154-G-C |
FGFR3 |
c.1173G>C |
p.A391= |
Synonymous |
9/18 |
- |
4-1808010-G-A |
FGFR3 |
c.1986G>A |
p.A662= |
Synonymous |
15/18 |
- |
4-1808010-G-T |
FGFR3 |
c.1986G>T |
p.A662= |
Synonymous |
15/18 |
- |
9-139396876-A-G |
NOTCH1 |
c.5232T>C |
p.F1744= |
Synonymous |
28/34 |
- |
9-139396888-C-T |
NOTCH1 |
c.5220G>A |
p.A1740= |
Synonymous |
28/34 |
- |
9-139399932-G-A |
NOTCH1 |
c.4416C>T |
p.C1472= |
Synonymous |
25/34 |
- |
9-139399935-C-T |
NOTCH1 |
c.4413G>A |
p.A1471= |
Synonymous |
25/34 |
- |
22-30069389-C-G |
NF2 |
c.1254C>G |
p.R418= |
Synonymous |
12/16 |
- |
1-27105600-T-G |
ARID1A |
c.5211T>G |
p.G1737= |
Synonymous |
20/20 |
- |
1-27057783-A-G |
ARID1A |
c.1491A>G |
p.Q497= |
Synonymous |
3/20 |
- |
1-27057744-C-T |
ARID1A |
c.1452C>T |
p.P484= |
Synonymous |
3/20 |
- |
1-27057748-T-G |
ARID1A |
c.1456T>G |
p.S486A |
Missense |
3/20 |
- |
1-27094346-T-C |
ARID1A |
c.3054T>C |
p.P1018= |
Synonymous |
11/20 |
- |
1-27094370-T-G |
ARID1A |
c.3078T>G |
p.R1026= |
Synonymous |
11/20 |
- |
1-27094373-T-C |
ARID1A |
c.3081T>C |
p.Y1027= |
Synonymous |
11/20 |
- |
1-27094427-T-G |
ARID1A |
c.3135T>G |
p.G1045= |
Synonymous |
11/20 |
- |
1-27094433-A-G |
ARID1A |
c.3141A>G |
p.K1047= |
Synonymous |
11/20 |
- |
1-27101341-C-T |
ARID1A |
c.4623C>T |
p.H1541= |
Synonymous |
18/20 |
- |
1-27101377-C-T |
ARID1A |
c.4659C>T |
p.P1553= |
Synonymous |
18/20 |
- |
1-27101380-A-G |
ARID1A |
c.4662A>G |
p.P1554= |
Synonymous |
18/20 |
- |
1-27101389-C-T |
ARID1A |
c.4671C>T |
p.P1557= |
Synonymous |
18/20 |
- |
1-27101392-T-A |
ARID1A |
c.4674T>A |
p.S1558= |
Synonymous |
18/20 |
- |
1-27101401-G-T |
ARID1A |
c.4683G>T |
p.V1561= |
Synonymous |
18/20 |
- |
1-27101491-G-C |
ARID1A |
c.4773G>C |
p.L1591= |
Synonymous |
18/20 |
- |
1-27101515-C-T |
ARID1A |
c.4797C>T |
p.T1599= |
Synonymous |
18/20 |
- |
1-27105540-A-G |
ARID1A |
c.5151A>G |
p.V1717= |
Synonymous |
20/20 |
- |
1-27105567-G-A |
ARID1A |
c.5178G>A |
p.E1726= |
Synonymous |
20/20 |
- |
1-27105624-G-A |
ARID1A |
c.5235G>A |
p.L1745= |
Synonymous |
20/20 |
- |
1-27105627-T-C |
ARID1A |
c.5238T>C |
p.D1746= |
Synonymous |
20/20 |
- |
1-27105641-G-C |
ARID1A |
c.5252G>C |
p.S1751T |
Missense |
20/20 |
- |
1-27106905-C-A |
ARID1A |
c.6516C>A |
p.A2172= |
Synonymous |
20/20 |
- |
1-27106908-C-T |
ARID1A |
c.6519C>T |
p.N2173= |
Synonymous |
20/20 |
- |
1-27106914-T-C |
ARID1A |
c.6525T>C |
p.A2175= |
Synonymous |
20/20 |
- |
1-27106935-T-C |
ARID1A |
c.6546T>C |
p.A2182= |
Synonymous |
20/20 |
- |
1-27106938-T-G |
ARID1A |
c.6549T>G |
p.R2183= |
Synonymous |
20/20 |
- |
1-27106962-T-C |
ARID1A |
c.6573T>C |
p.S2191= |
Synonymous |
20/20 |
- |
1-27107142-T-C |
ARID1A |
c.6753T>C |
p.F2251= |
Synonymous |
20/20 |
- |
1-27107154-A-G |
ARID1A |
c.6765A>G |
p.E2255= |
Synonymous |
20/20 |
- |
1-27107175-G-C |
ARID1A |
c.6786G>C |
p.S2262= |
Synonymous |
20/20 |
- |
1-27107178-A-G |
ARID1A |
c.6789A>G |
p.V2263= |
Synonymous |
20/20 |
- |
14-35871675-A-G |
NFKBIA |
c.831T>C |
p.L277= |
Synonymous |
5/6 |
- |
1-27057804-A-G |
ARID1A |
c.1512A>G |
p.P504= |
Synonymous |
3/20 |
- |
17-29663805-T-G |
NF1 |
c.6300T>G |
p.L2100= |
Synonymous |
42/58 |
- |
1-27057808-T-A |
ARID1A |
c.1516T>A |
p.S506T |
Missense |
3/20 |
- |
1-27057813-A-G |
ARID1A |
c.1521A>G |
p.Q507= |
Synonymous |
3/20 |
- |
1-27057825-C-T |
ARID1A |
c.1533C>T |
p.L511= |
Synonymous |
3/20 |
- |
1-27088686-C-T |
ARID1A |
c.2295C>T |
p.P765= |
Synonymous |
7/20 |
- |
1-27088692-C-T |
ARID1A |
c.2301C>T |
p.P767= |
Synonymous |
7/20 |
- |
1-27088698-A-G |
ARID1A |
c.2307A>G |
p.S769= |
Synonymous |
7/20 |
- |
1-27088707-T-C |
ARID1A |
c.2316T>C |
p.S772= |
Synonymous |
7/20 |
- |
1-27088710-G-A |
ARID1A |
c.2319G>A |
p.P773= |
Synonymous |
7/20 |
- |
1-27088719-T-G |
ARID1A |
c.2328T>G |
p.P776= |
Synonymous |
7/20 |
- |
1-27088722-C-T |
ARID1A |
c.2331C>T |
p.S777= |
Synonymous |
7/20 |
- |
1-27088740-A-G |
ARID1A |
c.2349A>G |
p.T783= |
Synonymous |
7/20 |
- |
1-27088779-T-C |
ARID1A |
c.2388T>C |
p.Y796= |
Synonymous |
7/20 |
- |
1-27088782-T-C |
ARID1A |
c.2391T>C |
p.G797= |
Synonymous |
7/20 |
- |
17-29663781-T-C |
NF1 |
c.6276T>C |
p.N2092= |
Synonymous |
42/58 |
- |
17-29663787-T-C |
NF1 |
c.6282T>C |
p.L2094= |
Synonymous |
42/58 |
- |
17-29663796-A-G |
NF1 |
c.6291A>G |
p.A2097= |
Synonymous |
42/58 |
- |
17-29663811-C-T |
NF1 |
c.6306C>T |
p.Y2102= |
Synonymous |
42/58 |
- |
17-29663820-C-T |
NF1 |
c.6315C>T |
p.H2105= |
Synonymous |
42/58 |
- |
17-29663826-T-C |
NF1 |
c.6321T>C |
p.V2107= |
Synonymous |
42/58 |
- |
17-29663853-C-G |
NF1 |
c.6348C>G |
p.L2116= |
Synonymous |
42/58 |
- |
17-29676160-T-C |
NF1 |
c.7212T>C |
p.A2404= |
Synonymous |
49/58 |
- |
17-29676187-A-G |
NF1 |
c.7239A>G |
p.L2413= |
Synonymous |
49/58 |
- |
17-29676205-G-C |
NF1 |
c.7257G>C |
p.L2419= |
Synonymous |
49/58 |
- |
17-29676217-C-T |
NF1 |
c.7269C>T |
p.H2423= |
Synonymous |
49/58 |
- |
17-29676238-A-G |
NF1 |
c.7290A>G |
p.E2430= |
Synonymous |
49/58 |
- |
17-29687519-A-T |
NF1 |
c.8175A>T |
p.P2725= |
Synonymous |
57/58 |
- |
17-29687534-T-C |
NF1 |
c.8190T>C |
p.L2730= |
Synonymous |
57/58 |
- |
17-29687571-C-T |
NF1 |
c.8227C>T |
p.L2743= |
Synonymous |
57/58 |
- |
17-29687600-A-G |
NF1 |
c.8256A>G |
p.E2752= |
Synonymous |
57/58 |
- |
17-29687603-A-G |
NF1 |
c.8259A>G |
p.E2753= |
Synonymous |
57/58 |
- |
17-29687615-T-A |
NF1 |
c.8271T>A |
p.T2757= |
Synonymous |
57/58 |
- |
22-30069299-C-T |
NF2 |
c.1164C>T |
p.A388= |
Synonymous |
12/16 |
- |
22-30069308-C-A |
NF2 |
c.1173C>A |
p.T391= |
Synonymous |
12/16 |
- |
22-30069320-A-C |
NF2 |
c.1185A>C |
p.A395= |
Synonymous |
12/16 |
- |
22-30069323-A-G |
NF2 |
c.1188A>G |
p.K396= |
Synonymous |
12/16 |
- |
22-30069332-C-A |
NF2 |
c.1197C>A |
p.A399= |
Synonymous |
12/16 |
- |
22-30069335-G-A |
NF2 |
c.1200G>A |
p.Q400= |
Synonymous |
12/16 |
- |
22-30069341-C-T |
NF2 |
c.1206C>T |
p.A402= |
Synonymous |
12/16 |
- |
22-30069356-G-A |
NF2 |
c.1221G>A |
p.Q407= |
Synonymous |
12/16 |
- |
22-30069368-C-A |
NF2 |
c.1233C>A |
p.R411= |
Synonymous |
12/16 |
- |
22-30069380-A-G |
NF2 |
c.1245A>G |
p.T415= |
Synonymous |
12/16 |
- |
2-30142899-G-T |
ALK |
c.627C>A |
p.R209= |
Synonymous |
1/29 |
- |
2-30142902-A-G |
ALK |
c.624T>C |
p.I208= |
Synonymous |
1/29 |
- |
2-30142905-T-C |
ALK |
c.621A>G |
p.A207= |
Synonymous |
1/29 |
- |
17-37627910-G-A |
CDK12 |
c.1825G>A |
p.V609M |
Missense |
2/14 |
- |
17-37627928-G-A |
CDK12 |
c.1843G>A |
p.V615I |
Missense |
2/14 |
- |
17-37627948-C-T |
CDK12 |
c.1863C>T |
p.H621= |
Synonymous |
2/14 |
- |
17-37627954-A-G |
CDK12 |
c.1869A>G |
p.K623= |
Synonymous |
2/14 |
- |
17-37627963-G-A |
CDK12 |
c.1878G>A |
p.T626= |
Synonymous |
2/14 |
- |
17-37627973-T-C |
CDK12 |
c.1888T>C |
p.L630= |
Synonymous |
2/14 |
- |
17-37627984-A-T |
CDK12 |
c.1899A>T |
p.P633= |
Synonymous |
2/14 |
- |
17-37868601-T-C |
ERBB2 |
c.1048T>C |
p.L350= |
Synonymous |
9/27 |
- |
17-37868621-T-C |
ERBB2 |
c.1068T>C |
p.V356= |
Synonymous |
9/27 |
- |
17-37882831-T-C |
ERBB2 |
c.2889T>C |
p.S963= |
Synonymous |
24/27 |
- |
17-37882840-G-C |
ERBB2 |
c.2898G>C |
p.R966= |
Synonymous |
24/27 |
- |
17-37882843-A-G |
ERBB2 |
c.2901A>G |
p.P967= |
Synonymous |
24/27 |
- |
17-37882861-G-A |
ERBB2 |
c.2919G>A |
p.V973= |
Synonymous |
24/27 |
- |
17-37882864-T-A |
ERBB2 |
c.2922T>A |
p.S974= |
Synonymous |
24/27 |
- |
17-37882876-C-T |
ERBB2 |
c.2934C>T |
p.R978= |
Synonymous |
24/27 |
- |
17-37882882-C-A |
ERBB2 |
c.2940C>A |
p.A980= |
Synonymous |
24/27 |
- |
17-37883660-G-C |
ERBB2 |
c.3272G>C |
p.G1091A |
Missense |
26/27 |
- |
17-37883676-G-A |
ERBB2 |
c.3288G>A |
p.K1096= |
Synonymous |
26/27 |
- |
17-37883692-C-T |
ERBB2 |
c.3304C>T |
p.P1102S |
Missense |
26/27 |
- |
17-37883705-C-T |
ERBB2 |
c.3317C>T |
p.P1106L |
Missense |
26/27 |
- |
17-37883733-C-T |
ERBB2 |
c.3345C>T |
p.D1115= |
Synonymous |
26/27 |
- |
17-37883740-G-T |
ERBB2 |
c.3352G>T |
p.V1118L |
Missense |
26/27 |
- |
19-40741856-C-T |
AKT2 |
c.1116G>A |
p.T372= |
Synonymous |
11/14 |
- |
19-40741877-T-C |
AKT2 |
c.1095A>G |
p.E365= |
Synonymous |
11/14 |
- |
19-40741883-G-A |
AKT2 |
c.1089C>T |
p.L363= |
Synonymous |
11/14 |
- |
19-40741925-G-T |
AKT2 |
c.1047C>A |
p.P349= |
Synonymous |
11/14 |
- |
19-40741937-G-A |
AKT2 |
c.1035C>T |
p.C345= |
Synonymous |
11/14 |
- |
19-40741982-G-T |
AKT2 |
c.990C>A |
p.A330= |
Synonymous |
11/14 |
- |
19-40741985-C-T |
AKT2 |
c.987G>A |
p.R329= |
Synonymous |
11/14 |
- |
19-40741988-G-C |
AKT2 |
c.984C>G |
p.G328= |
Synonymous |
11/14 |
- |
19-40771133-C-T |
AKT2 |
c.42G>A |
p.K14= |
Synonymous |
2/14 |
- |
19-40771163-C-T |
AKT2 |
c.12G>A |
p.V4= |
Synonymous |
2/14 |
- |
19-4117501-T-C |
MAP2K2 |
c.219A>G |
p.E73= |
Synonymous |
2/11 |
- |
13-32953527-A-G |
BRCA2 |
c.8828A>G |
p.Q2943R |
Missense |
22/27 |
- |
13-32953541-A-T |
BRCA2 |
c.8842A>T |
p.I2948F |
Missense |
22/27 |
- |
13-32953553-A-C |
BRCA2 |
c.8854A>C |
p.M2952L |
Missense |
22/27 |
- |
13-32953561-T-C |
BRCA2 |
c.8862T>C |
p.S2954= |
Synonymous |
22/27 |
- |
13-32953571-A-G |
BRCA2 |
c.8872A>G |
p.K2958E |
Missense |
22/27 |
- |
13-32953579-A-G |
BRCA2 |
c.8880A>G |
p.Q2960= |
Synonymous |
22/27 |
- |
16-339448-G-C |
AXIN1 |
c.2454C>G |
p.G818= |
Synonymous |
10/11 |
- |
16-339454-T-C |
AXIN1 |
c.2448A>G |
p.K816= |
Synonymous |
10/11 |
- |
16-339460-C-T |
AXIN1 |
c.2442G>A |
p.L814= |
Synonymous |
10/11 |
- |
14-35871657-A-G |
NFKBIA |
c.849T>C |
p.S283= |
Synonymous |
5/6 |
- |
14-35871663-T-G |
NFKBIA |
c.843A>C |
p.P281= |
Synonymous |
5/6 |
- |
14-35871666-C-T |
NFKBIA |
c.840G>A |
p.L280= |
Synonymous |
5/6 |
- |
14-35871678-G-A |
NFKBIA |
c.828C>T |
p.N276= |
Synonymous |
5/6 |
- |
14-35871684-T-C |
NFKBIA |
c.822A>G |
p.L274= |
Synonymous |
5/6 |
- |
14-35871687-T-G |
NFKBIA |
c.819A>C |
p.T273= |
Synonymous |
5/6 |
- |
14-35871720-G-A |
NFKBIA |
c.786C>T |
p.S262= |
Synonymous |
5/6 |
- |
14-35871738-G-A |
NFKBIA |
c.768C>T |
p.L256= |
Synonymous |
5/6 |
- |
14-35871750-A-G |
NFKBIA |
c.756T>C |
p.S252= |
Synonymous |
5/6 |
- |
14-35871753-A-G |
NFKBIA |
c.753T>C |
p.Y251= |
Synonymous |
5/6 |
- |
17-37618336-A-C |
CDK12 |
c.12A>C |
p.S4= |
Synonymous |
1/14 |
- |
17-37627988-T-C |
CDK12 |
c.1903T>C |
p.L635= |
Synonymous |
2/14 |
- |
17-37649046-C-T |
CDK12 |
c.2151C>T |
p.S717= |
Synonymous |
4/14 |
- |
17-37649049-C-T |
CDK12 |
c.2154C>T |
p.D718= |
Synonymous |
4/14 |
- |
17-37649058-A-G |
CDK12 |
c.2163A>G |
p.K721= |
Synonymous |
4/14 |
- |
17-37657555-A-T |
CDK12 |
c.2472A>T |
p.L824= |
Synonymous |
6/14 |
- |
17-37682434-A-G |
CDK12 |
c.3625A>G |
p.I1209V |
Missense |
13/14 |
- |
17-37682436-A-G |
CDK12 |
c.3627A>G |
p.I1209M |
Missense |
13/14 |
- |
17-37682484-C-T |
CDK12 |
c.3675C>T |
p.G1225= |
Synonymous |
13/14 |
- |
17-37682501-A-C |
CDK12 |
c.3692A>C |
p.N1231T |
Missense |
13/14 |
- |
17-37682504-G-A |
CDK12 |
c.3695G>A |
p.S1232N |
Missense |
13/14 |
- |
17-37682514-C-T |
CDK12 |
c.3705C>T |
p.N1235= |
Synonymous |
13/14 |
- |
17-37686960-C-A |
CDK12 |
c.3864C>A |
p.S1288R |
Missense |
14/14 |
- |
17-37883752-T-C |
ERBB2 |
c.3364T>C |
p.S1122P |
Missense |
26/27 |
- |
16-396576-A-C |
AXIN1 |
c.450T>G |
p.L150= |
Synonymous |
2/11 |
- |
16-396579-A-G |
AXIN1 |
c.447T>C |
p.I149= |
Synonymous |
2/11 |
- |
16-396621-C-T |
AXIN1 |
c.405G>A |
p.E135= |
Synonymous |
2/11 |
- |
16-396627-G-A |
AXIN1 |
c.399C>T |
p.N133= |
Synonymous |
2/11 |
- |
16-396630-C-T |
AXIN1 |
c.396G>A |
p.S132= |
Synonymous |
2/11 |
- |
16-396645-C-A |
AXIN1 |
c.381G>T |
p.L127= |
Synonymous |
2/11 |
- |
16-396661-G-C |
AXIN1 |
c.365C>G |
p.T122S |
Missense |
2/11 |
- |
19-40740989-A-G |
AKT2 |
c.1329T>C |
p.F443= |
Synonymous |
13/14 |
- |
19-40740992-T-C |
AKT2 |
c.1326A>G |
p.E442= |
Synonymous |
13/14 |
- |
19-40740995-A-C |
AKT2 |
c.1323T>G |
p.D441E |
Missense |
13/14 |
- |
19-40741019-C-T |
AKT2 |
c.1299G>A |
p.E433= |
Synonymous |
13/14 |
- |
19-40741022-G-T |
AKT2 |
c.1296C>A |
p.S432= |
Synonymous |
13/14 |
- |
19-40741025-C-A |
AKT2 |
c.1293G>T |
p.T431= |
Synonymous |
13/14 |
- |
19-40741847-G-T |
AKT2 |
c.1125C>A |
p.P375= |
Synonymous |
11/14 |
- |
14-45636215-G-A |
FANCM |
c.1851G>A |
p.Q617= |
Synonymous |
11/23 |
- |
16-2130193-T-C |
TSC2 |
c.3425T>C |
p.L1142P |
Missense |
30/42 |
- |
2-39507479-T-G |
MAP4K3 |
c.1648A>C |
p.K550Q |
Missense |
23/34 |
- |
2-39535145-G-A |
MAP4K3 |
c.1058C>T |
p.P353L |
Missense |
15/34 |
- |
8-48765338-G-C |
PRKDC |
c.6900C>G |
p.Q2300= |
Synonymous |
53/87 |
- |
19-4117510-A-G |
MAP2K2 |
c.210T>C |
p.D70= |
Synonymous |
2/11 |
- |
19-4117522-T-C |
MAP2K2 |
c.198A>G |
p.E66= |
Synonymous |
2/11 |
- |
19-4117525-G-A |
MAP2K2 |
c.195C>T |
p.G65= |
Synonymous |
2/11 |
- |
19-4117534-G-A |
MAP2K2 |
c.186C>T |
p.A62= |
Synonymous |
2/11 |
- |
19-4117546-G-A |
MAP2K2 |
c.174C>T |
p.L58= |
Synonymous |
2/11 |
- |
19-4117549-A-G |
MAP2K2 |
c.171T>C |
p.F57= |
Synonymous |
2/11 |
- |
14-45636221-T-G |
FANCM |
c.1857T>G |
p.L619= |
Synonymous |
11/23 |
- |
19-4117555-T-C |
MAP2K2 |
c.165A>G |
p.E55= |
Synonymous |
2/11 |
- |
19-4117568-T-C |
MAP2K2 |
c.152A>G |
p.K51R |
Missense |
2/11 |
- |
19-4117570-C-T |
MAP2K2 |
c.150G>A |
p.Q50= |
Synonymous |
2/11 |
- |
19-4117579-G-A |
MAP2K2 |
c.141C>T |
p.D47= |
Synonymous |
2/11 |
- |
19-4117582-A-C |
MAP2K2 |
c.138T>G |
p.L46= |
Synonymous |
2/11 |
- |
19-4117585-T-G |
MAP2K2 |
c.135A>C |
p.E45D |
Missense |
2/11 |
- |
19-4117594-C-T |
MAP2K2 |
c.126G>A |
p.E42= |
Synonymous |
2/11 |
- |
14-45636184-G-A |
FANCM |
c.1820G>A |
p.S607N |
Missense |
11/23 |
- |
14-45636188-A-T |
FANCM |
c.1824A>T |
p.I608= |
Synonymous |
11/23 |
- |
14-45636197-T-C |
FANCM |
c.1833T>C |
p.A611= |
Synonymous |
11/23 |
- |
14-45636204-A-G |
FANCM |
c.1840A>G |
p.S614G |
Missense |
11/23 |
- |
14-45636212-G-A |
FANCM |
c.1848G>A |
p.R616= |
Synonymous |
11/23 |
- |
14-45636227-T-A |
FANCM |
c.1863T>A |
p.F621L |
Missense |
11/23 |
- |
14-45636234-A-G |
FANCM |
c.1870A>G |
p.R624G |
Missense |
11/23 |
- |
14-45636266-C-T |
FANCM |
c.1902C>T |
p.N634= |
Synonymous |
11/23 |
- |
19-45858015-C-T |
ERCC2 |
c.1638G>A |
p.E546= |
Synonymous |
17/23 |
- |
19-45858036-G-A |
ERCC2 |
c.1617C>T |
p.F539= |
Synonymous |
17/23 |
- |
19-45858048-G-A |
ERCC2 |
c.1605C>T |
p.I535= |
Synonymous |
17/23 |
- |
19-45858057-A-T |
ERCC2 |
c.1596T>A |
p.P532= |
Synonymous |
17/23 |
- |
19-45858066-A-G |
ERCC2 |
c.1587T>C |
p.A529= |
Synonymous |
17/23 |
- |
19-45858090-C-G |
ERCC2 |
c.1563G>C |
p.G521= |
Synonymous |
17/23 |
- |
12-46245214-G-A |
ARID2 |
c.3308G>A |
p.S1103N |
Missense |
15/21 |
- |
12-46245224-C-A |
ARID2 |
c.3318C>A |
p.A1106= |
Synonymous |
15/21 |
- |
12-46245227-A-T |
ARID2 |
c.3321A>T |
p.A1107= |
Synonymous |
15/21 |
- |
12-46245254-A-G |
ARID2 |
c.3348A>G |
p.P1116= |
Synonymous |
15/21 |
- |
17-47677815-A-T |
SPOP |
c.1050T>A |
p.A350= |
Synonymous |
10/10 |
- |
17-47677821-C-T |
SPOP |
c.1044G>A |
p.L348= |
Synonymous |
10/10 |
- |
2-48033716-A-G |
MSH6 |
c.3927A>G |
p.P1309= |
Synonymous |
9/10 |
- |
2-48033722-A-G |
MSH6 |
c.3933A>G |
p.E1311= |
Synonymous |
9/10 |
- |
2-48033731-A-G |
MSH6 |
c.3942A>G |
p.Q1314= |
Synonymous |
9/10 |
- |
2-48033740-T-C |
MSH6 |
c.3951T>C |
p.H1317= |
Synonymous |
9/10 |
- |
8-134125733-T-C |
TG |
c.7640T>C |
p.L2547P |
Missense |
44/48 |
- |
9-5054671-C-T |
JAK2 |
c.723C>T |
p.S241= |
Synonymous |
7/25 |
- |
9-5054677-C-T |
JAK2 |
c.729C>T |
p.C243= |
Synonymous |
7/25 |
- |
9-5054692-A-G |
JAK2 |
c.744A>G |
p.R248= |
Synonymous |
7/25 |
- |
9-5054696-T-C |
JAK2 |
c.748T>C |
p.L250= |
Synonymous |
7/25 |
- |
9-5054698-G-A |
JAK2 |
c.750G>A |
p.L250= |
Synonymous |
7/25 |
- |
9-5054719-T-C |
JAK2 |
c.771T>C |
p.N257= |
Synonymous |
7/25 |
- |
9-5054728-T-C |
JAK2 |
c.780T>C |
p.T260= |
Synonymous |
7/25 |
- |
9-5054755-A-G |
JAK2 |
c.807A>G |
p.K269= |
Synonymous |
7/25 |
- |
9-5054771-C-T |
JAK2 |
c.823C>T |
p.P275S |
Missense |
7/25 |
- |
2-30142914-C-T |
ALK |
c.612G>A |
p.L204= |
Synonymous |
1/29 |
- |
2-30142926-T-C |
ALK |
c.600A>G |
p.R200= |
Synonymous |
1/29 |
- |
2-30142941-C-T |
ALK |
c.585G>A |
p.A195= |
Synonymous |
1/29 |
- |
2-30142953-G-A |
ALK |
c.573C>T |
p.P191= |
Synonymous |
1/29 |
- |
2-30142974-T-C |
ALK |
c.552A>G |
p.R184= |
Synonymous |
1/29 |
- |
2-30142976-G-T |
ALK |
c.550C>A |
p.R184= |
Synonymous |
1/29 |
- |
11-32414216-A-G |
WT1 |
c.1335T>C |
p.H450= |
Synonymous |
8/10 |
- |
11-32414249-A-G |
WT1 |
c.1302T>C |
p.R439= |
Synonymous |
8/10 |
- |
11-32414267-A-G |
WT1 |
c.1284T>C |
p.C433= |
Synonymous |
8/10 |
- |
13-32953498-G-A |
BRCA2 |
c.8799G>A |
p.R2933= |
Synonymous |
22/27 |
- |
13-32953505-T-C |
BRCA2 |
c.8806T>C |
p.L2936= |
Synonymous |
22/27 |
- |
13-32953525-T-G |
BRCA2 |
c.8826T>G |
p.A2942= |
Synonymous |
22/27 |
- |
12-58145306-A-G |
CDK4 |
c.195T>C |
p.A65= |
Synonymous |
2/8 |
- |
9-5054775-G-C |
JAK2 |
c.827G>C |
p.G276A |
Missense |
7/25 |
- |
10-50708739-G-A |
ERCC6 |
c.1530C>T |
p.Y510= |
Synonymous |
7/21 |
- |
9-5077466-G-A |
JAK2 |
c.1878G>A |
p.Q626= |
Synonymous |
15/25 |
- |
9-5077490-A-G |
JAK2 |
c.1902A>G |
p.L634= |
Synonymous |
15/25 |
- |
9-5077499-T-C |
JAK2 |
c.1911T>C |
p.Y637= |
Synonymous |
15/25 |
- |
12-58145300-C-T |
CDK4 |
c.201G>A |
p.E67= |
Synonymous |
2/8 |
- |
12-46245298-C-A |
ARID2 |
c.3392C>A |
p.P1131Q |
Missense |
15/21 |
- |
12-46245315-T-G |
ARID2 |
c.3409T>G |
p.S1137A |
Missense |
15/21 |
- |
12-46245326-A-G |
ARID2 |
c.3420A>G |
p.V1140= |
Synonymous |
15/21 |
- |
12-46245362-A-G |
ARID2 |
c.3456A>G |
p.P1152= |
Synonymous |
15/21 |
- |
12-46245380-T-C |
ARID2 |
c.3474T>C |
p.N1158= |
Synonymous |
15/21 |
- |
2-47637304-T-C |
MSH2 |
c.438T>C |
p.G146= |
Synonymous |
3/16 |
- |
2-47637340-G-A |
MSH2 |
c.474G>A |
p.Q158= |
Synonymous |
3/16 |
- |
2-47637397-A-G |
MSH2 |
c.531A>G |
p.E177= |
Synonymous |
3/16 |
- |
2-47637403-T-C |
MSH2 |
c.537T>C |
p.P179= |
Synonymous |
3/16 |
- |
17-47677770-T-C |
SPOP |
c.1095A>G |
p.G365= |
Synonymous |
10/10 |
- |
17-47677776-A-G |
SPOP |
c.1089T>C |
p.F363= |
Synonymous |
10/10 |
- |
17-47677803-G-A |
SPOP |
c.1062C>T |
p.R354= |
Synonymous |
10/10 |
- |
17-47677812-C-T |
SPOP |
c.1053G>A |
p.E351= |
Synonymous |
10/10 |
- |
9-5077505-A-G |
JAK2 |
c.1917A>G |
p.K639= |
Synonymous |
15/25 |
- |
9-5077511-T-C |
JAK2 |
c.1923T>C |
p.N641= |
Synonymous |
15/25 |
- |
9-5077543-A-G |
JAK2 |
c.1955A>G |
p.E652G |
Missense |
15/25 |
- |
9-5077547-T-G |
JAK2 |
c.1959T>G |
p.V653= |
Synonymous |
15/25 |
- |
7-55273208-T-C |
EGFR |
c.3531T>C |
p.F1177= |
Synonymous |
28/28 |
- |
7-55273235-C-A |
EGFR |
c.3558C>A |
p.I1186= |
Synonymous |
28/28 |
- |
7-55273245-T-C |
EGFR |
c.3568T>C |
p.S1190P |
Missense |
28/28 |
- |
5-56160599-T-G |
MAP3K1 |
c.873T>G |
p.P291= |
Synonymous |
4/20 |
- |
5-56160620-A-G |
MAP3K1 |
c.894A>G |
p.P298= |
Synonymous |
4/20 |
- |
5-56160623-T-C |
MAP3K1 |
c.897T>C |
p.Y299= |
Synonymous |
4/20 |
- |
5-56160629-T-A |
MAP3K1 |
c.903T>A |
p.P301= |
Synonymous |
4/20 |
- |
5-56160635-A-G |
MAP3K1 |
c.909A>G |
p.E303= |
Synonymous |
4/20 |
- |
5-56160640-A-G |
MAP3K1 |
c.914A>G |
p.N305S |
Missense |
4/20 |
- |
5-56160647-T-C |
MAP3K1 |
c.921T>C |
p.R307= |
Synonymous |
4/20 |
- |
5-56160650-T-G |
MAP3K1 |
c.924T>G |
p.V308= |
Synonymous |
4/20 |
- |
5-56160663-C-A |
MAP3K1 |
c.937C>A |
p.R313= |
Synonymous |
4/20 |
- |
5-56160665-G-A |
MAP3K1 |
c.939G>A |
p.R313= |
Synonymous |
4/20 |
- |
5-56160671-A-G |
MAP3K1 |
c.945A>G |
p.R315= |
Synonymous |
4/20 |
- |
5-56160678-T-C |
MAP3K1 |
c.952T>C |
p.L318= |
Synonymous |
4/20 |
- |
5-56160680-A-G |
MAP3K1 |
c.954A>G |
p.L318= |
Synonymous |
4/20 |
- |
5-56177937-T-C |
MAP3K1 |
c.2910T>C |
p.S970= |
Synonymous |
14/20 |
- |
5-56177943-A-G |
MAP3K1 |
c.2916A>G |
p.L972= |
Synonymous |
14/20 |
- |
5-56177953-T-G |
MAP3K1 |
c.2926T>G |
p.S976A |
Missense |
14/20 |
- |
12-58145315-T-C |
CDK4 |
c.186A>G |
p.R62= |
Synonymous |
2/8 |
- |
5-56177955-C-T |
MAP3K1 |
c.2928C>T |
p.S976= |
Synonymous |
14/20 |
- |
5-56177967-T-C |
MAP3K1 |
c.2940T>C |
p.F980= |
Synonymous |
14/20 |
- |
5-56177980-A-G |
MAP3K1 |
c.2953A>G |
p.T985A |
Missense |
14/20 |
- |
5-56178486-T-C |
MAP3K1 |
c.3459T>C |
p.V1153= |
Synonymous |
14/20 |
- |
12-56478808-C-G |
ERBB3 |
c.264C>G |
p.L88= |
Synonymous |
3/28 |
- |
12-56478835-A-G |
ERBB3 |
c.291A>G |
p.L97= |
Synonymous |
3/28 |
- |
12-56478838-A-C |
ERBB3 |
c.294A>C |
p.P98= |
Synonymous |
3/28 |
- |
12-56478844-C-T |
ERBB3 |
c.300C>T |
p.P100= |
Synonymous |
3/28 |
- |
12-56478853-C-A |
ERBB3 |
c.309C>A |
p.R103= |
Synonymous |
3/28 |
- |
12-56478859-G-C |
ERBB3 |
c.315G>C |
p.V105= |
Synonymous |
3/28 |
- |
12-56478862-A-G |
ERBB3 |
c.318A>G |
p.R106= |
Synonymous |
3/28 |
- |
12-56478865-G-A |
ERBB3 |
c.321G>A |
p.G107= |
Synonymous |
3/28 |
- |
17-56774096-A-G |
RAD51C |
c.447A>G |
p.G149= |
Synonymous |
3/9 |
- |
17-56774099-A-C |
RAD51C |
c.450A>C |
p.G150= |
Synonymous |
3/9 |
- |
17-56774105-A-C |
RAD51C |
c.456A>C |
p.A152= |
Synonymous |
3/9 |
- |
17-56774117-T-A |
RAD51C |
c.468T>A |
p.V156= |
Synonymous |
3/9 |
- |
12-58145317-G-T |
CDK4 |
c.184C>A |
p.R62= |
Synonymous |
2/8 |
- |
12-58145327-A-G |
CDK4 |
c.174T>C |
p.A58= |
Synonymous |
2/8 |
- |
17-63554004-T-G |
AXIN2 |
c.735A>C |
p.P245= |
Synonymous |
2/11 |
- |
1-65332797-G-A |
JAK1 |
c.742C>T |
p.L248= |
Synonymous |
7/25 |
- |
1-65332822-C-T |
JAK1 |
c.717G>A |
p.R239= |
Synonymous |
7/25 |
- |
1-65332834-G-A |
JAK1 |
c.705C>T |
p.L235= |
Synonymous |
7/25 |
- |
15-66727413-T-C |
MAP2K1 |
c.129T>C |
p.D43= |
Synonymous |
2/11 |
- |
15-66727434-T-C |
MAP2K1 |
c.150T>C |
p.L50= |
Synonymous |
2/11 |
- |
15-66727446-T-G |
MAP2K1 |
c.162T>G |
p.L54= |
Synonymous |
2/11 |
- |
15-66727449-C-G |
MAP2K1 |
c.165C>G |
p.T55= |
Synonymous |
2/11 |
- |
15-66727467-A-G |
MAP2K1 |
c.183A>G |
p.G61= |
Synonymous |
2/11 |
- |
15-66727500-T-C |
MAP2K1 |
c.216T>C |
p.S72= |
Synonymous |
2/11 |
- |
15-66727509-G-A |
MAP2K1 |
c.225G>A |
p.G75= |
Synonymous |
2/11 |
- |
15-66727518-T-C |
MAP2K1 |
c.234T>C |
p.N78= |
Synonymous |
2/11 |
- |
15-66727521-C-T |
MAP2K1 |
c.237C>T |
p.G79= |
Synonymous |
2/11 |
- |
X-76813021-A-G |
ATRX |
c.6600T>C |
p.T2200= |
Synonymous |
30/35 |
- |
X-76813030-A-G |
ATRX |
c.6591T>C |
p.R2197= |
Synonymous |
30/35 |
- |
X-76813036-C-A |
ATRX |
c.6585G>T |
p.V2195= |
Synonymous |
30/35 |
- |
X-76813045-C-T |
ATRX |
c.6576G>A |
p.Q2192= |
Synonymous |
30/35 |
- |
X-76813051-A-C |
ATRX |
c.6570T>G |
p.V2190= |
Synonymous |
30/35 |
- |
X-76813057-T-G |
ATRX |
c.6564A>C |
p.R2188= |
Synonymous |
30/35 |
- |
X-76813060-A-G |
ATRX |
c.6561T>C |
p.F2187= |
Synonymous |
30/35 |
- |
X-76813078-A-T |
ATRX |
c.6543T>A |
p.T2181= |
Synonymous |
30/35 |
- |
X-76813084-T-C |
ATRX |
c.6537A>G |
p.Q2179= |
Synonymous |
30/35 |
- |
X-76813087-C-A |
ATRX |
c.6534G>T |
p.R2178= |
Synonymous |
30/35 |
- |
X-76875927-A-G |
ATRX |
c.5208T>C |
p.N1736= |
Synonymous |
20/35 |
- |
X-76875939-A-T |
ATRX |
c.5196T>A |
p.S1732= |
Synonymous |
20/35 |
- |
10-89692978-C-T |
PTEN |
c.462C>T |
p.F154= |
Synonymous |
5/9 |
- |
10-89717671-A-G |
PTEN |
c.696A>G |
p.T232= |
Synonymous |
7/9 |
- |
10-89717674-A-G |
PTEN |
c.699A>G |
p.R233= |
Synonymous |
7/9 |
- |
10-89717680-A-G |
PTEN |
c.705A>G |
p.E235= |
Synonymous |
7/9 |
- |
8-90970994-T-G |
NBN |
c.1083A>C |
p.T361= |
Synonymous |
9/16 |
- |
X-66942817-C-T |
AR |
c.2598C>T |
p.S866= |
Synonymous |
7/8 |
- |
15-66727524-T-A |
MAP2K1 |
c.240T>A |
p.G80= |
Synonymous |
2/11 |
- |
15-66727530-G-C |
MAP2K1 |
c.246G>C |
p.V82= |
Synonymous |
2/11 |
- |
15-89838254-A-G |
FANCI |
c.2565A>G |
p.E855= |
Synonymous |
24/38 |
- |
5-67593270-A-T |
PIK3R1 |
c.2016A>T |
p.I672= |
Synonymous |
16/16 |
- |
5-67593276-A-G |
PIK3R1 |
c.2022A>G |
p.K674= |
Synonymous |
16/16 |
- |
5-67593279-A-T |
PIK3R1 |
c.2025A>T |
p.T675= |
Synonymous |
16/16 |
- |
5-67593282-A-C |
PIK3R1 |
c.2028A>C |
p.A676= |
Synonymous |
16/16 |
- |
17-63554007-C-T |
AXIN2 |
c.732G>A |
p.S244= |
Synonymous |
2/11 |
- |
17-63554010-A-G |
AXIN2 |
c.729T>C |
p.L243= |
Synonymous |
2/11 |
- |
17-63554024-A-G |
AXIN2 |
c.715T>C |
p.F239L |
Missense |
2/11 |
- |
17-63554034-A-C |
AXIN2 |
c.705T>G |
p.T235= |
Synonymous |
2/11 |
- |
17-63554067-A-G |
AXIN2 |
c.672T>C |
p.Y224= |
Synonymous |
2/11 |
- |
17-63554076-C-T |
AXIN2 |
c.663G>A |
p.V221= |
Synonymous |
2/11 |
- |
17-63554078-C-A |
AXIN2 |
c.661G>T |
p.V221L |
Missense |
2/11 |
- |
17-63554094-G-C |
AXIN2 |
c.645C>G |
p.L215= |
Synonymous |
2/11 |
- |
5-67593285-T-C |
PIK3R1 |
c.2031T>C |
p.T677= |
Synonymous |
16/16 |
- |
5-67593309-T-C |
PIK3R1 |
c.2055T>C |
p.Y685= |
Synonymous |
16/16 |
- |
5-67593313-T-C |
PIK3R1 |
c.2059T>C |
p.L687= |
Synonymous |
16/16 |
- |
5-67593324-T-C |
PIK3R1 |
c.2070T>C |
p.S690= |
Synonymous |
16/16 |
- |
5-67593330-A-G |
PIK3R1 |
c.2076A>G |
p.K692= |
Synonymous |
16/16 |
- |
5-67593333-A-G |
PIK3R1 |
c.2079A>G |
p.E693= |
Synonymous |
16/16 |
- |
5-67593348-C-T |
PIK3R1 |
c.2094C>T |
p.Y698= |
Synonymous |
16/16 |
- |
14-68758624-A-G |
RAD51B |
c.780A>G |
p.T260= |
Synonymous |
8/11 |
- |
14-68758654-G-A |
RAD51B |
c.810G>A |
p.Q270= |
Synonymous |
8/11 |
- |
17-63554103-A-G |
AXIN2 |
c.636T>C |
p.N212= |
Synonymous |
2/11 |
- |
1-65332728-A-G |
JAK1 |
c.811T>C |
p.L271= |
Synonymous |
7/25 |
- |
1-65332771-A-G |
JAK1 |
c.768T>C |
p.I256= |
Synonymous |
7/25 |
- |
1-65332795-T-C |
JAK1 |
c.744A>G |
p.L248= |
Synonymous |
7/25 |
- |
8-90971000-G-A |
NBN |
c.1077C>T |
p.N359= |
Synonymous |
9/16 |
- |
15-89828331-A-G |
FANCI |
c.1703A>G |
p.H568R |
Missense |
18/38 |
- |
14-68301851-A-T |
RAD51B |
c.253A>T |
p.T85S |
Missense |
4/11 |
- |
8-90971009-G-A |
NBN |
c.1068C>T |
p.A356= |
Synonymous |
9/16 |
- |
8-90971018-C-G |
NBN |
c.1059G>C |
p.M353I |
Missense |
9/16 |
- |
8-90971023-G-T |
NBN |
c.1054C>A |
p.L352I |
Missense |
9/16 |
- |
8-90971041-C-G |
NBN |
c.1036G>C |
p.V346L |
Missense |
9/16 |
- |
8-90971043-C-A |
NBN |
c.1034G>T |
p.G345V |
Missense |
9/16 |
- |
8-90971048-T-G |
NBN |
c.1029A>C |
p.S343= |
Synonymous |
9/16 |
- |
1-65335150-T-G |
JAK1 |
c.491A>C |
p.Y164S |
Missense |
6/25 |
- |
7-116435774-C-T |
MET |
c.3864C>T |
p.N1288= |
Synonymous |
20/21 |
- |
17-29664486-T-C |
NF1 |
c.6528T>C |
p.I2176= |
Synonymous |
43/58 |
- |
8-48869982-G-T |
PRKDC |
c.164C>A |
p.T55K |
Missense |
2/87 |
- |
7-116435720-C-G |
MET |
c.3810C>G |
p.G1270= |
Synonymous |
20/21 |
- |
7-116435720-C-T |
MET |
c.3810C>T |
p.G1270= |
Synonymous |
20/21 |
- |
19-11141458-C-T |
SMARCA4 |
c.3435C>T |
p.P1145= |
Synonymous |
25/35 |
- |
2-212488744-C-T |
ERBB4 |
c.2105G>A |
p.G702D |
Missense |
18/28 |
- |
11-108236223-A-G |
ATM |
c.9159A>G |
p.K3053= |
Synonymous |
63/63 |
- |
X-14861858-T-C |
FANCB |
c.2411A>G |
p.D804G |
Missense |
10/10 |
- |
1-11291026-G-A |
MTOR |
c.2735C>T |
p.A912V |
Missense |
18/58 |
- |
3-178947078-T-C |
PIK3CA |
c.2514T>C |
p.C838= |
Synonymous |
18/21 |
- |
3-14200185-C-T |
XPC |
c.1198G>A |
p.E400K |
Missense |
9/16 |
- |
19-11151991-G-A |
SMARCA4 |
c.4179G>A |
p.E1393= |
Synonymous |
30/35 |
- |
2-47607027-C-T |
EPCAM |
c.777C>T |
p.F259= |
Synonymous |
7/9 |
- |
9-139399890-G-T |
NOTCH1 |
c.4458C>A |
p.P1486= |
Synonymous |
25/34 |
- |
3-142231163-C-T |
ATR |
c.4791G>A |
p.Q1597= |
Synonymous |
27/47 |
- |
14-45639835-A-G |
FANCM |
c.2046A>G |
p.E682= |
Synonymous |
12/23 |
- |
11-108213995-G-C |
ATM |
c.8315G>C |
p.G2772A |
Missense |
57/63 |
- |
17-33434444-C-T |
RAD51D |
c.286G>A |
p.G96S |
Missense |
4/10 |
- |
10-43602006-C-T |
RET |
c.1050C>T |
p.T350= |
Synonymous |
5/20 |
- |
4-55139774-C-A |
PDGFRA |
c.1435C>A |
p.R479= |
Synonymous |
10/23 |
- |
16-23647582-C-G |
PALB2 |
c.285G>C |
p.K95N |
Missense |
4/13 |
- |
3-10091071-C-A |
FANCD2 |
c.1427C>A |
p.A476D |
Missense |
17/44 |
- |
17-37619179-C-G |
CDK12 |
c.855C>G |
p.Y285* |
Nonsense |
1/14 |
- |
14-75508373-G-A |
MLH3 |
c.3410C>T |
p.S1137L |
Missense |
4/13 |
- |
5-112162922-C-G |
APC |
c.1526C>G |
p.T509S |
Missense |
12/16 |
- |
3-142268341-G-A |
ATR |
c.3151C>T |
p.R1051C |
Missense |
15/47 |
- |
15-91308562-G-T |
BLM |
c.2111G>T |
p.C704F |
Missense |
9/22 |
- |
12-121432202-G-C |
HNF1A |
c.949G>C |
p.V317L |
Missense |
4/10 |
- |
14-75515413-C-T |
MLH3 |
c.946G>A |
p.E316K |
Missense |
2/13 |
- |
12-46285645-T-G |
ARID2 |
c.5005T>G |
p.W1669G |
Missense |
17/21 |
- |
11-108115610-A-G |
ATM |
c.758A>G |
p.E253G |
Missense |
7/63 |
- |
14-68331780-A-T |
RAD51B |
c.376A>T |
p.T126S |
Missense |
5/11 |
- |
5-67569786-A-G |
PIK3R1 |
c.447A>G |
p.L149= |
Synonymous |
4/16 |
- |
15-40468826-G-A |
BUB1B |
c.533G>A |
p.G178E |
Missense |
5/23 |
- |
1-120462168-C-T |
NOTCH2 |
c.5548G>A |
p.D1850N |
Missense |
31/34 |
- |
17-29509659-G-A |
NF1 |
c.864G>A |
p.V288= |
Synonymous |
8/58 |
- |
17-29509668-A-G |
NF1 |
c.873A>G |
p.E291= |
Synonymous |
8/58 |
- |
17-29527479-C-A |
NF1 |
c.928C>A |
p.H310N |
Missense |
9/58 |
- |
9-139401795-G-A |
NOTCH1 |
c.3605C>T |
p.P1202L |
Missense |
22/34 |
- |
12-46246456-G-T |
ARID2 |
c.4550G>T |
p.R1517M |
Missense |
15/21 |
- |
15-40476073-G-T |
BUB1B |
c.740G>T |
p.G247V |
Missense |
6/23 |
- |
X-14882746-T-C |
FANCB |
c.887A>G |
p.N296S |
Missense |
3/10 |
- |
5-56161239-C-T |
MAP3K1 |
c.1108C>T |
p.P370S |
Missense |
5/20 |
- |
1-156845892-C-A |
NTRK1 |
c.1522C>A |
p.R508= |
Synonymous |
13/17 |
- |
1-120468070-G-C |
NOTCH2 |
c.4369C>G |
p.L1457V |
Missense |
25/34 |
- |
9-35074967-G-C |
FANCG |
c.1593C>G |
p.T531= |
Synonymous |
12/14 |
- |
13-32936807-G-A |
BRCA2 |
c.7953G>A |
p.R2651= |
Synonymous |
17/27 |
- |
5-56170938-A-G |
MAP3K1 |
c.1766A>G |
p.H589R |
Missense |
10/20 |
- |
16-89877427-G-C |
FANCA |
c.336C>G |
p.L112= |
Synonymous |
4/43 |
- |
9-5126758-A-G |
JAK2 |
c.3366A>G |
p.R1122= |
Synonymous |
25/25 |
- |
11-47256419-C-T |
DDB2 |
c.814C>T |
p.L272= |
Synonymous |
6/10 |
- |
17-37627404-C-G |
CDK12 |
c.1319C>G |
p.S440* |
Nonsense |
2/14 |
- |
8-128750584-G-T |
MYC |
c.121G>T |
p.D41Y |
Missense |
2/3 |
- |
7-148513778-G-A |
EZH2 |
c.1503C>T |
p.H501= |
Synonymous |
12/20 |
- |
13-103514011-T-C |
ERCC5 |
c.827T>C |
p.V276A |
Missense |
7/15 |
- |
3-142268463-G-A |
ATR |
c.3029C>T |
p.A1010V |
Missense |
15/47 |
- |
10-43608338-C-T |
RET |
c.1686C>T |
p.T562= |
Synonymous |
9/20 |
- |
2-48027161-C-G |
MSH6 |
c.2039C>G |
p.A680G |
Missense |
4/10 |
- |
16-89837005-A-G |
FANCA |
c.2189T>C |
p.L730P |
Missense |
24/43 |
- |
8-145740323-G-A |
RECQL4 |
c.1617C>T |
p.D539= |
Synonymous |
9/22 |
- |
4-55133783-C-T |
PDGFRA |
c.996C>T |
p.V332= |
Synonymous |
7/23 |
- |
3-14189426-A-G |
XPC |
c.2496T>C |
p.I832= |
Synonymous |
14/16 |
- |
8-30933722-A-G |
WRN |
c.758A>G |
p.Q253R |
Missense |
8/35 |
- |
3-178952084-CA-AT |
PIK3CA |
c.3139_3140delCAinsAT |
p.H1047I |
Missense |
21/21 |
- |
2-39552921-C-T |
MAP4K3 |
c.757G>A |
p.A253T |
Missense |
11/34 |
- |
2-39552668-A-G |
MAP4K3 |
c.909T>C |
p.D303= |
Synonymous |
12/34 |
- |
8-145741496-G-A |
RECQL4 |
c.1007C>T |
p.T336I |
Missense |
5/22 |
- |
17-37673802-T-G |
CDK12 |
c.2956T>G |
p.F986V |
Missense |
10/14 |
- |
15-40505618-A-G |
BUB1B |
c.2621A>G |
p.H874R |
Missense |
20/23 |
- |
15-91295128-C-T |
BLM |
c.911C>T |
p.S304F |
Missense |
4/22 |
- |
11-22646668-G-A |
FANCF |
c.689C>T |
p.P230L |
Missense |
1/1 |
- |
17-37673710-C-G |
CDK12 |
c.2864C>G |
p.P955R |
Missense |
10/14 |
- |
14-68331785-A-T |
RAD51B |
c.381A>T |
p.L127F |
Missense |
5/11 |
- |
13-103527659-A-G |
ERCC5 |
c.2967A>G |
p.T989= |
Synonymous |
15/15 |
- |
16-68844230-A-G |
CDH1 |
c.818A>G |
p.E273G |
Missense |
6/16 |
- |
9-5080673-G-T |
JAK2 |
c.2424G>T |
p.L808F |
Missense |
18/25 |
- |
3-41277866-C-T |
CTNNB1 |
c.1830C>T |
p.I610= |
Synonymous |
12/15 |
- |
2-47707958-A-T |
MSH2 |
c.2582A>T |
p.Q861L |
Missense |
15/16 |
- |
15-40477817-G-A |
BUB1B |
c.1032G>A |
p.V344= |
Synonymous |
8/23 |
- |
17-63533733-T-G |
AXIN2 |
c.1421A>C |
p.H474P |
Missense |
6/11 |
- |
14-45620612-T-C |
FANCM |
c.931T>C |
p.F311L |
Missense |
5/23 |
- |
8-145738093-C-A |
RECQL4 |
c.2817G>T |
p.A939A |
synonymous_variant |
17/22 |
- |
8-145738093-C-T |
RECQL4 |
c.2817G>A |
p.A939A |
synonymous_variant |
17/22 |
- |
8-145737071-G-A |
RECQL4 |
c.3495C>T |
p.H1165H |
synonymous_variant |
21/22 |
- |
13-32913818-T-G |
BRCA2 |
c.5326T>G |
p.L1776V |
Missense |
11/27 |
- |
3-41266962-T-C |
CTNNB1 |
c.633T>C |
p.A211= |
Synonymous |
5/15 |
- |
17-47688742-C-G |
SPOP |
c.558G>C |
p.L186= |
Synonymous |
6/10 |
- |
19-11100012-C-T |
SMARCA4 |
c.1138C>T |
p.H380Y |
Missense |
7/35 |
- |
16-2114406-G-C |
TSC2 |
c.1577G>C |
p.S526T |
Missense |
15/42 |
- |
10-50708618-A-T |
ERCC6 |
c.1651T>A |
p.Y551N |
Missense |
7/21 |
- |
4-1801123-G-A |
FGFR3 |
c.252G>A |
p.S84= |
Synonymous |
3/18 |
- |
1-45808117-G-A |
TOE1 |
c.554G>A |
p.R185Q |
Missense |
6/8 |
- |
17-37883556-T-C |
ERBB2 |
c.3168T>C |
p.G1056= |
Synonymous |
26/27 |
- |
4-55130079-G-A |
PDGFRA |
c.613G>A |
p.V205I |
Missense |
4/23 |
- |
2-47600630-C-T |
EPCAM |
c.105C>T |
p.A35= |
Synonymous |
2/9 |
- |
5-131973778-G-A |
RAD50 |
c.3481G>A |
p.E1161K |
Missense |
23/25 |
- |
17-37868248-A-G |
ERBB2 |
c.969A>G |
p.T323= |
Synonymous |
8/27 |
- |
7-116339241-A-G |
MET |
c.103A>G |
p.M35V |
Missense |
2/21 |
- |
9-35075065-A-C |
FANCG |
c.1495T>G |
p.C499G |
Missense |
12/14 |
- |
8-128752747-G-C |
MYC |
c.908G>C |
p.S303T |
Missense |
3/3 |
- |
1-27102160-T-C |
ARID1A |
c.5086T>C |
p.Y1696H |
Missense |
19/20 |
- |
5-131977924-T-C |
RAD50 |
c.3807T>C |
p.H1269= |
Synonymous |
25/25 |
- |
15-91295104-A-T |
BLM |
c.887A>T |
p.Y296F |
Missense |
4/22 |
- |
16-396366-G-A |
AXIN1 |
c.660C>T |
p.V220= |
Synonymous |
2/11 |
- |
X-76940472-A-G |
ATRX |
c.621T>C |
p.D207= |
Synonymous |
8/35 |
- |
8-30941233-A-G |
WRN |
c.1288A>G |
p.N430D |
Missense |
10/35 |
- |
9-139399390-G-A |
NOTCH1 |
c.4753C>T |
p.L1585= |
Synonymous |
26/34 |
- |
3-142257428-A-G |
ATR |
c.3621T>C |
p.C1207= |
Synonymous |
19/47 |
- |
19-4102446-G-A |
MAP2K2 |
c.456C>T |
p.G152= |
Synonymous |
4/11 |
- |
10-50667113-C-T |
ERCC6 |
c.4230G>A |
p.G1410= |
Synonymous |
21/21 |
- |
16-89881011-G-T |
FANCA |
c.200C>A |
p.P67Q |
Missense |
3/43 |
- |
13-103518626-T-C |
BIVM-ERCC5 |
c.3576T>C |
p.T1192= |
Synonymous |
18/23 |
- |
13-32906582-GT-TA |
BRCA2 |
c.967_968delGTinsTA |
p.V323* |
Nonsense |
10/27 |
- |
7-116419011-T-C |
MET |
c.3522T>C |
p.H1174= |
Synonymous |
17/21 |
- |
11-108165752-A-G |
ATM |
c.4875A>G |
p.K1625= |
Synonymous |
32/63 |
- |
16-68842703-G-A |
CDH1 |
c.639G>A |
p.W213* |
Nonsense |
5/16 |
- |
2-39536612-T-C |
MAP4K3 |
c.1046A>G |
p.H349R |
Missense |
14/34 |
- |
10-50724212-T-G |
PGBD3 |
c.949A>C |
p.N317H |
Missense |
2/2 |
- |
5-112173495-C-A |
APC |
c.2204C>A |
p.A735E |
Missense |
16/16 |
- |
16-89813261-T-A |
FANCA |
c.3386A>T |
p.D1129V |
Missense |
34/43 |
- |
5-80109432-C-T |
MSH3 |
c.2685C>T |
p.T895= |
Synonymous |
20/24 |
- |
16-2106236-G-A |
TSC2 |
c.639G>A |
p.V213= |
Synonymous |
7/42 |
- |
16-338146-G-A |
AXIN1 |
c.2565C>T |
p.I855= |
Synonymous |
11/11 |
- |
3-142212096-C-T |
ATR |
c.5956G>A |
p.E1986K |
Missense |
35/47 |
- |
10-50724538-A-C |
PGBD3 |
c.623T>G |
p.V208G |
Missense |
2/2 |
- |
2-48025880-A-G |
MSH6 |
c.758A>G |
p.D253G |
Missense |
4/10 |
- |
12-56494007-G-A |
ERBB3 |
c.3179G>A |
p.G1060D |
Missense |
26/28 |
- |
19-40741964-C-T |
AKT2 |
c.1008G>A |
p.L336= |
Synonymous |
11/14 |
- |
2-48026512-A-G |
MSH6 |
c.1390A>G |
p.I464V |
Missense |
4/10 |
- |
8-48774653-C-T |
PRKDC |
c.5954G>A |
p.R1985H |
Missense |
45/87 |
- |
8-30948354-T-C |
WRN |
c.1725T>C |
p.Y575= |
Synonymous |
15/35 |
- |
8-30948417-T-C |
WRN |
c.1788T>C |
p.S596= |
Synonymous |
15/35 |
- |
17-29556209-G-C |
NF1 |
c.2576G>C |
p.G859A |
Missense |
21/58 |
- |
14-68301854-A-T |
RAD51B |
c.256A>T |
p.T86S |
Missense |
4/11 |
- |
9-5066747-T-C |
JAK2 |
c.1284T>C |
p.S428= |
Synonymous |
10/25 |
- |
15-66774172-C-T |
MAP2K1 |
c.648C>T |
p.I216= |
Synonymous |
6/11 |
- |
10-123247547-G-A |
FGFR2 |
c.1944C>T |
p.A648= |
Synonymous |
14/18 |
- |
11-94179045-C-G |
MRE11 |
c.1798G>C |
p.E600Q |
Missense |
16/20 |
- |
17-63533771-G-A |
AXIN2 |
c.1383C>T |
p.S461= |
Synonymous |
6/11 |
- |
17-37687324-T-C |
CDK12 |
c.4228T>C |
p.L1410= |
Synonymous |
14/14 |
- |
1-11298631-G-A |
MTOR |
c.1830C>T |
p.F610= |
Synonymous |
12/58 |
- |
19-4102404-G-A |
MAP2K2 |
c.498C>T |
p.P166= |
Synonymous |
4/11 |
- |
9-35075743-T-A |
FANCG |
c.1152A>T |
p.P384= |
Synonymous |
10/14 |
- |
12-46231110-C-T |
ARID2 |
c.1030C>T |
p.L344= |
Synonymous |
9/21 |
- |
X-14863339-C-T |
FANCB |
c.1566G>A |
p.K522= |
Synonymous |
8/10 |
- |
1-156851260-C-T |
NTRK1 |
c.2217C>T |
p.C739= |
Synonymous |
17/17 |
- |
5-112173396-G-A |
APC |
c.2105G>A |
p.G702E |
Missense |
16/16 |
- |
9-135786902-G-C |
TSC1 |
c.967C>G |
p.P323A |
Missense |
10/23 |
- |
6-138200470-G-A |
TNFAIP3 |
c.1888G>A |
p.E630K |
Missense |
7/9 |
- |
9-139413938-G-A |
NOTCH1 |
c.822C>T |
p.D274= |
Synonymous |
5/34 |
- |
16-2112557-C-T |
TSC2 |
c.1317C>T |
p.D439= |
Synonymous |
13/42 |
- |
16-2134391-G-A |
TSC2 |
c.4168G>A |
p.E1390K |
Missense |
34/42 |
- |
6-35427194-C-T |
FANCE |
c.1200C>T |
p.S400= |
Synonymous |
6/10 |
- |
10-43604648-C-T |
RET |
c.1233C>T |
p.S411= |
Synonymous |
6/20 |
- |
19-45867268-C-T |
ERCC2 |
c.925G>A |
p.V309M |
Missense |
10/23 |
- |
12-46211656-G-A |
ARID2 |
c.622G>A |
p.G208R |
Missense |
5/21 |
- |
14-45658344-T-A |
FANCM |
c.5119T>A |
p.S1707T |
Missense |
20/23 |
- |
4-55139842-C-A |
PDGFRA |
c.1503C>A |
p.C501* |
Nonsense |
10/23 |
- |
17-63554706-C-T |
AXIN2 |
c.33G>A |
p.P11= |
Synonymous |
2/11 |
- |
17-63533593-G-A |
AXIN2 |
c.1561C>T |
p.H521Y |
Missense |
6/11 |
- |
16-68857411-G-A |
CDH1 |
c.2046G>A |
p.E682= |
Synonymous |
13/16 |
- |
16-347179-G-A |
AXIN1 |
c.1832C>T |
p.S611L |
Missense |
7/11 |
- |
2-29449798-G-T |
ALK |
c.3057C>A |
p.V1019= |
Synonymous |
18/29 |
- |
1-118166547-G-A |
TENT5C |
c.1057G>A |
p.V353I |
Missense |
2/2 |
- |
19-4095412-G-A |
MAP2K2 |
c.1020C>T |
p.P340= |
Synonymous |
9/11 |
- |
5-80109466-A-G |
MSH3 |
c.2719A>G |
p.K907E |
Missense |
20/24 |
- |
2-128046269-G-A |
ERCC3 |
c.994C>T |
p.R332C |
Missense |
7/15 |
- |
3-41266490-C-T |
CTNNB1 |
c.287C>T |
p.A96V |
Missense |
4/15 |
- |
12-46231301-C-T |
ARID2 |
c.1141C>T |
p.L381F |
Missense |
10/21 |
- |
10-50686429-T-C |
ERCC6 |
c.2257A>G |
p.S753G |
Missense |
11/21 |
- |
16-68845662-C-T |
CDH1 |
c.908C>T |
p.T303I |
Missense |
7/16 |
- |
15-89848415-T-C |
FANCI |
c.3128T>C |
p.V1043A |
Missense |
29/38 |
- |
11-108124716-C-T |
ATM |
c.2074C>T |
p.R692C |
Missense |
13/63 |
- |
3-142238594-C-T |
ATR |
c.4299G>A |
p.M1433I |
Missense |
24/47 |
- |
5-112176288-C-T |
APC |
c.4997C>T |
p.P1666L |
Missense |
16/16 |
- |
19-11152156-C-T |
SMARCA4 |
c.4344C>T |
p.A1448= |
Synonymous |
30/35 |
- |
9-100437779-T-C |
XPA |
c.764A>G |
p.D255G |
Missense |
6/6 |
- |
17-63533897-C-T |
AXIN2 |
c.1257G>A |
p.T419= |
Synonymous |
6/11 |
- |
|