5-149457678-G-A |
CSF1R |
c.726C>T |
p.Thr242Thr |
Synonymous |
5/22 |
- |
1-120612043-G-A |
NOTCH2 |
c.1-23C>T |
- |
5-UTRSNV |
1/34 |
- |
1-120612043-G-T |
NOTCH2 |
c.1-23C>A |
- |
5-UTRSNV |
1/34 |
- |
4-55602765-G-C |
KIT |
c.2586G>C |
p.Leu862Leu |
Synonymous |
18/21 |
- |
5-1294166-C-T |
TERT |
c.835G>A |
p.Ala279Thr |
Missense |
2/15 |
- |
8-39872866-A-C |
IDO2 |
c.1008A>C |
p.Ser336Ser |
Synonymous |
11/11 |
- |
8-39872866-A-G |
IDO2 |
c.1008A>G |
p.Ser336Ser |
Synonymous |
11/11 |
- |
9-87419506-T-C |
NTRK2 |
c.1397-5951T>C |
- |
IntronicSNV |
- |
14/14 |
9-87419506-T-A |
NTRK2 |
c.1397-5951T>A |
- |
IntronicSNV |
- |
14/14 |
7-140490928-C-A |
BRAF |
c.1140+3180G>T |
- |
IntronicSNV |
- |
8/17 |
9-87393876-A-G |
NTRK2 |
c.1396+26876A>G |
- |
IntronicSNV |
- |
14/14 |
12-57486647-A-C |
NAB2 |
c.1092-53A>C |
- |
IntronicSNV |
- |
3/6 |
12-57486647-A-G |
NAB2 |
c.1092-53A>G |
- |
IntronicSNV |
- |
3/6 |
17-41226601-G-C |
BRCA1 |
c.4485-63C>G |
- |
IntronicSNV |
- |
13/22 |
17-78085792-G-A |
GAA |
c.1647G>A |
p.Gly549Gly |
Synonymous |
12/20 |
- |
7-148506363-T-A |
EZH2 |
c.2110+39A>T |
- |
IntronicSNV |
- |
18/19 |
9-87418949-C-A |
NTRK2 |
c.1397-6508C>A |
- |
IntronicSNV |
- |
14/14 |
7-140493029-A-G |
BRAF |
c.1140+1079T>C |
- |
IntronicSNV |
- |
8/17 |
14-95574031-G-A |
DICER1 |
c.2718C>T |
p.Arg906Arg |
Synonymous |
19/29 |
- |
3-142277536-A-G |
ATR |
c.1815T>C |
p.Asp605Asp |
Synonymous |
8/47 |
- |
8-133894766-C-T |
TG |
c.798C>T |
p.Asp266Asp |
Synonymous |
7/48 |
- |
12-121416988-A-G |
HNF1A |
c.326+91A>G |
- |
IntronicSNV |
- |
1/9 |
19-40739770-G-A |
AKT2 |
c.*9C>T |
- |
3-UTRSNV |
14/14 |
- |
19-40739770-G-C |
AKT2 |
c.*9C>G |
- |
3-UTRSNV |
14/14 |
- |
4-55956204-C-T |
KDR |
c.3111G>A |
p.Ser1037Ser |
Synonymous |
23/30 |
- |
10-43610119-G-T |
RET |
c.2071G>T |
p.Gly691Cys |
Missense |
11/20 |
- |
7-138535479-G-C |
KIAA1549 |
c.5294+1490C>G |
- |
IntronicSNV |
- |
17/19 |
7-138535479-G-A |
KIAA1549 |
c.5294+1490C>T |
- |
IntronicSNV |
- |
17/19 |
9-87415368-G-A |
NTRK2 |
c.1397-10089G>A |
- |
IntronicSNV |
- |
14/14 |
7-138531050-C-A |
KIAA1549 |
c.5295-1831G>T |
- |
IntronicSNV |
- |
17/19 |
1-45294156-T-C |
PTCH2 |
c.1590+22A>G |
- |
IntronicSNV |
- |
12/21 |
7-138534971-G-C |
KIAA1549 |
c.5294+1998C>G |
- |
IntronicSNV |
- |
17/19 |
17-78081604-T-G |
GAA |
c.864T>G |
p.Gly288Gly |
Synonymous |
5/20 |
- |
17-78081604-T-C |
GAA |
c.864T>C |
p.Gly288Gly |
Synonymous |
5/20 |
- |
17-78081604-T-A |
GAA |
c.864T>A |
p.Gly288Gly |
Synonymous |
5/20 |
- |
16-71609928-CC-AC |
TAT |
c.236_237delGGinsAC |
p.Gly79Asp |
Missense |
3/12 |
- |
6-114265587-T-A |
HDAC2 |
c.1092-13A>T |
- |
IntronicSNV |
- |
10/13 |
6-114265587-T-C |
HDAC2 |
c.1092-13A>G |
- |
IntronicSNV |
- |
10/13 |
12-49427919-T-C |
KMT2D |
c.10671A>G |
p.Pro3557Pro |
Synonymous |
38/54 |
- |
6-26031868-G-A |
HIST1H3B |
c.*10C>T |
- |
3-UTRSNV |
1/1 |
- |
2-29445157-G-T |
ALK |
c.3515+53C>A |
- |
IntronicSNV |
- |
22/28 |
2-29445157-G-C |
ALK |
c.3515+53C>G |
- |
IntronicSNV |
- |
22/28 |
7-148507538-T-TT |
EZH2 |
c.1948-29_1948-29dup |
- |
IntronicInsertion |
- |
16/19 |
10-123256248-G-A |
FGFR2 |
c.1673-12C>T |
- |
IntronicSNV |
- |
12/17 |
17-41244429-C-G |
BRCA1 |
c.3119G>C |
p.Ser1040Thr |
Missense |
10/23 |
- |
17-41244429-C-T |
BRCA1 |
c.3119G>A |
p.Ser1040Asn |
Missense |
10/23 |
- |
9-2096774-G-A |
SMARCA2 |
c.2991+10G>A |
- |
IntronicSNV |
- |
20/33 |
19-11097709-C-A |
SMARCA4 |
c.859+30C>A |
- |
IntronicSNV |
- |
5/34 |
1-78430690-G-GGG |
FUBP1 |
c.637-37_637-36insCC |
- |
IntronicInsertion |
- |
8/19 |
10-104268877-G-A |
SUFU |
c.183-49G>A |
- |
IntronicSNV |
- |
1/11 |
10-104268877-G-C |
SUFU |
c.183-49G>C |
- |
IntronicSNV |
- |
1/11 |
10-104268877-G-T |
SUFU |
c.183-49G>T |
- |
IntronicSNV |
- |
1/11 |
8-133899309-C-G |
TG |
c.1692C>G |
p.Ala564Ala |
Synonymous |
9/48 |
- |
9-87408053-T-C |
NTRK2 |
c.1397-17404T>C |
- |
IntronicSNV |
- |
14/14 |
7-128843169-C-T |
SMO |
c.332-56C>T |
- |
IntronicSNV |
- |
1/11 |
8-39871135-C-T |
IDO2 |
c.810C>T |
p.Ser270Ser |
Synonymous |
10/11 |
- |
9-87413064-A-G |
NTRK2 |
c.1397-12393A>G |
- |
IntronicSNV |
- |
14/14 |
4-55146406-T-TTGTAGGTCCCCCGG |
PDGFRA |
c.2157-77_2157-76insTGTAGGTCCCCCGG |
- |
IntronicInsertion |
- |
15/22 |
19-11106600-C-T |
SMARCA4 |
c.1594-289C>T |
- |
IntronicSNV |
- |
9/34 |
9-87397130-A-G |
NTRK2 |
c.1397-28327A>G |
- |
IntronicSNV |
- |
14/14 |
16-85704584-A-C |
GSE1 |
c.3416-17A>C |
- |
IntronicSNV |
- |
14/15 |
5-112198128-T-C |
SRP19 |
c.42-77T>C |
- |
IntronicSNV |
- |
1/4 |
2-48010558-C-T |
MSH6 |
c.186C>T |
p.Arg62Arg |
Synonymous |
1/10 |
- |
2-48010558-C-G |
MSH6 |
c.186C>G |
p.Arg62Arg |
Synonymous |
1/10 |
- |
7-55218903-T-C |
EGFR |
c.560-84T>C |
- |
IntronicSNV |
- |
4/27 |
17-78090900-C-T |
GAA |
c.2323C>T |
p.Leu775Leu |
Synonymous |
16/20 |
- |
8-133885465-A-C |
TG |
c.637A>C |
p.Arg213Arg |
Synonymous |
5/48 |
- |
4-55144447-T-A |
PDGFRA |
c.2003-82T>A |
- |
IntronicSNV |
- |
14/22 |
4-55144447-T-C |
PDGFRA |
c.2003-82T>C |
- |
IntronicSNV |
- |
14/22 |
10-123239112-G-A |
FGFR2 |
c.*259C>T |
- |
3-UTRSNV |
18/18 |
- |
2-242695399-G-A |
D2HGDH |
c.1276G>A |
p.Ala426Thr |
Missense |
9/10 |
- |
9-87363424-C-G |
NTRK2 |
c.1296+3436C>G |
- |
IntronicSNV |
- |
13/14 |
X-76937963-G-C |
ATRX |
c.2785C>G |
p.Gln929Glu |
Missense |
9/35 |
- |
6-135539162-T-G |
MYB |
c.*44T>G |
- |
3-UTRSNV |
15/15 |
- |
2-48018081-A-G |
MSH6 |
c.276A>G |
p.Pro92Pro |
Synonymous |
2/10 |
- |
5-67589188-C-T |
PIK3R1 |
c.366C>T |
p.Phe122Phe |
Synonymous |
4/10 |
- |
1-110300441-G-A |
EPS8L3 |
c.877C>T |
p.His293Tyr |
Missense |
10/19 |
- |
9-87417794-G-A |
NTRK2 |
c.1397-7663G>A |
- |
IntronicSNV |
- |
14/14 |
9-87417794-G-C |
NTRK2 |
c.1397-7663G>C |
- |
IntronicSNV |
- |
14/14 |
8-133935617-G-T |
TG |
c.4563G>T |
p.Leu1521Leu |
Synonymous |
22/48 |
- |
8-133935617-G-A |
TG |
c.4563G>A |
p.Leu1521Leu |
Synonymous |
22/48 |
- |
8-133935617-G-C |
TG |
c.4563G>C |
p.Leu1521Leu |
Synonymous |
22/48 |
- |
16-68857441-T-C |
CDH1 |
c.2076T>C |
p.Ala692Ala |
Synonymous |
13/16 |
- |
18-52896253-C-T |
TCF4 |
c.1692G>A |
p.Glu564Glu |
Synonymous |
18/20 |
- |
4-55593464-A-T |
KIT |
c.1621A>T |
p.Met541Leu |
Missense |
10/21 |
- |
4-1801487-G-A |
FGFR3 |
c.393G>A |
p.Ser131Ser |
Synonymous |
4/18 |
- |
9-2191246-T-C |
SMARCA2 |
c.4595-20T>C |
- |
IntronicSNV |
- |
32/33 |
8-133880451-A-C |
TG |
c.159A>C |
p.Ala53Ala |
Synonymous |
2/48 |
- |
13-48916860-C-G |
RB1 |
c.380+10C>G |
- |
IntronicSNV |
- |
3/26 |
9-133710804-T-A |
ABL1 |
c.137-18647T>A |
- |
IntronicSNV |
- |
1/10 |
16-2138584-G-A |
TSC2 |
c.5397G>A |
p.Ser1799Ser |
Synonymous |
42/42 |
- |
17-78078746-CC-C |
GAA |
c.361delC |
p.Gln121Argfs*21 |
Frameshift |
2/20 |
- |
9-22006273-G-T |
CDKN2B |
c.157-27C>A |
- |
IntronicSNV |
- |
1/1 |
17-78087148-C-T |
GAA |
c.2172C>T |
p.Ala724Ala |
Synonymous |
15/20 |
- |
12-57493727-T-G |
STAT6 |
c.1608-41A>C |
- |
IntronicSNV |
- |
14/21 |
17-78087148-C-A |
GAA |
c.2172C>A |
p.Ala724Ala |
Synonymous |
15/20 |
- |
8-38285636-C-G |
FGFR1 |
c.449-25G>C |
- |
IntronicSNV |
- |
4/17 |
8-38285636-C-T |
FGFR1 |
c.449-25G>A |
- |
IntronicSNV |
- |
4/17 |
9-133710246-A-T |
ABL1 |
c.137-19205A>T |
- |
IntronicSNV |
- |
1/10 |
1-45297753-A-C |
PTCH2 |
c.456-37T>G |
- |
IntronicSNV |
- |
3/21 |
9-87392582-C-T |
NTRK2 |
c.1396+25582C>T |
- |
IntronicSNV |
- |
14/14 |
1-45297753-A-G |
PTCH2 |
c.456-37T>C |
- |
IntronicSNV |
- |
3/21 |
7-128850875-T-C |
SMO |
c.1722T>C |
p.Ser574Ser |
Synonymous |
10/12 |
- |
16-2114407-C-T |
TSC2 |
c.1578C>T |
p.Ser526Ser |
Synonymous |
15/42 |
- |
1-43812075-G-A |
MPL |
c.981-41G>A |
- |
IntronicSNV |
- |
6/11 |
11-63531175-C-G |
C11orf95 |
c.1752G>C |
p.Arg584Arg |
Synonymous |
5/5 |
- |
4-55593481-A-G |
KIT |
c.1638A>G |
p.Lys546Lys |
Synonymous |
10/21 |
- |
4-72618354-G-A |
GC |
c.1276C>T |
p.Leu426Leu |
Synonymous |
11/13 |
- |
9-87395919-A-G |
NTRK2 |
c.1396+28919A>G |
- |
IntronicSNV |
- |
14/14 |
8-133898862-C-A |
TG |
c.1245C>A |
p.Leu415Leu |
Synonymous |
9/48 |
- |
12-57487729-T-G |
NAB2 |
c.1468+348T>G |
- |
IntronicSNV |
- |
6/6 |
12-57487729-T-A |
NAB2 |
c.1468+348T>A |
- |
IntronicSNV |
- |
6/6 |
1-120457850-C-T |
NOTCH2 |
c.*79G>A |
- |
3-UTRSNV |
34/34 |
- |
8-133898862-C-T |
TG |
c.1245C>T |
p.Leu415Leu |
Synonymous |
9/48 |
- |
8-133898862-C-G |
TG |
c.1245C>G |
p.Leu415Leu |
Synonymous |
9/48 |
- |
17-78091545-G-C |
GAA |
c.2478G>C |
p.Leu826Leu |
Synonymous |
17/20 |
- |
5-149439458-T-G |
CSF1R |
c.1970-33A>C |
- |
IntronicSNV |
- |
14/21 |
10-43622217-T-C |
RET |
c.3187+47T>C |
- |
IntronicSNV |
- |
19/19 |
19-11113902-G-A |
SMARCA4 |
c.1943+67G>A |
- |
IntronicSNV |
- |
12/34 |
8-38272952-T-C |
FGFR1 |
c.1848+436A>G |
- |
IntronicSNV |
- |
13/17 |
6-36189887-C-G |
BRPF3 |
c.3084-58C>G |
- |
IntronicSNV |
- |
9/12 |
7-55237977-T-C |
EGFR |
c.1881-891T>C |
- |
IntronicSNV |
- |
15/27 |
8-133885345-CCAC-C |
TG |
c.517_519delCAC |
p.His173delHis |
InFrameDeletion |
5/48 |
- |
7-138546543-G-A |
KIAA1549 |
c.4930-341C>T |
- |
IntronicSNV |
- |
15/19 |
5-149456772-T-A |
CSF1R |
c.889+67A>T |
- |
IntronicSNV |
- |
6/21 |
2-47643476-C-T |
MSH2 |
c.984C>T |
p.Ala328Ala |
Synonymous |
6/16 |
- |
9-135772717-G-A |
TSC1 |
c.2829C>T |
p.Ala943Ala |
Synonymous |
22/23 |
- |
12-49427652-C-G |
KMT2D |
c.10836G>C |
p.Gln3612His |
Missense |
39/54 |
- |
9-87410214-G-A |
NTRK2 |
c.1397-15243G>A |
- |
IntronicSNV |
- |
14/14 |
2-47693959-G-A |
MSH2 |
c.1661+12G>A |
- |
IntronicSNV |
- |
10/15 |
16-2138422-C-A |
TSC2 |
c.5260-25C>A |
- |
IntronicSNV |
- |
41/41 |
16-2138422-C-G |
TSC2 |
c.5260-25C>G |
- |
IntronicSNV |
- |
41/41 |
14-95560444-G-A |
DICER1 |
c.5145C>T |
p.Leu1715Leu |
Synonymous |
26/29 |
- |
13-32912560-G-T |
BRCA2 |
c.4068G>T |
p.Leu1356Phe |
Missense |
11/27 |
- |
9-87366089-A-C |
NTRK2 |
c.1297-812A>C |
- |
IntronicSNV |
- |
13/14 |
9-87417248-C-G |
NTRK2 |
c.1397-8209C>G |
- |
IntronicSNV |
- |
14/14 |
9-87415028-G-C |
NTRK2 |
c.1397-10429G>C |
- |
IntronicSNV |
- |
14/14 |
20-57484241-C-T |
GNAS |
c.555C>T |
p.Ile185Ile |
Synonymous |
7/13 |
- |
8-133880451-A-T |
TG |
c.159A>T |
p.Ala53Ala |
Synonymous |
2/48 |
- |
4-72635099-T-C |
GC |
c.77A>G |
p.Asn26Ser |
Missense |
2/13 |
- |
3-178922274-C-A |
PIK3CA |
c.1060-17C>A |
- |
IntronicSNV |
- |
5/20 |
4-55980456-C-A |
KDR |
c.659-24G>T |
- |
IntronicSNV |
- |
5/29 |
7-140490382-C-T |
BRAF |
c.1141-2998G>A |
- |
IntronicSNV |
- |
8/17 |
16-2138422-C-T |
TSC2 |
c.5260-25C>T |
- |
IntronicSNV |
- |
41/41 |
7-148506363-T-G |
EZH2 |
c.2110+39A>C |
- |
IntronicSNV |
- |
18/19 |
13-32912560-G-A |
BRCA2 |
c.4068G>A |
p.Leu1356Leu |
Synonymous |
11/27 |
- |
9-87415028-G-T |
NTRK2 |
c.1397-10429G>T |
- |
IntronicSNV |
- |
14/14 |
9-87396327-CATAA-CATAACATAA |
NTRK2 |
c.1397-29130_1397-29126dup |
- |
IntronicInsertion |
- |
14/14 |
17-29653293-T-C |
NF1 |
c.5205+23T>C |
- |
IntronicSNV |
- |
36/56 |
8-133880451-A-G |
TG |
c.159A>G |
p.Ala53Ala |
Synonymous |
2/48 |
- |
3-178922274-C-G |
PIK3CA |
c.1060-17C>G |
- |
IntronicSNV |
- |
5/20 |
1-45293709-G-T |
PTCH2 |
c.1864C>A |
p.His622Asn |
Missense |
14/22 |
- |
13-49051481-T-A |
RB1 |
c.2664-10T>A |
- |
IntronicSNV |
- |
25/26 |
7-55238941-G-T |
EGFR |
c.1919+35G>T |
- |
IntronicSNV |
- |
16/27 |
18-52901846-C-A |
TCF4 |
c.1419G>T |
p.Pro473Pro |
Synonymous |
16/20 |
- |
18-52901846-C-T |
TCF4 |
c.1419G>A |
p.Pro473Pro |
Synonymous |
16/20 |
- |
17-78078571-A-G |
GAA |
c.186A>G |
p.Arg62Arg |
Synonymous |
2/20 |
- |
13-48947503-C-T |
RB1 |
c.1128-38C>T |
- |
IntronicSNV |
- |
11/26 |
2-47739551-A-G |
KCNK12 |
c.*8495T>C |
- |
IntergenicSNV |
2/2 |
- |
8-133899255-G-A |
TG |
c.1638G>A |
p.Lys546Lys |
Synonymous |
9/48 |
- |
17-29559932-C-A |
NF1 |
c.3496+33C>A |
- |
IntronicSNV |
- |
26/56 |
4-55139771-T-C |
PDGFRA |
c.1432T>C |
p.Ser478Pro |
Missense |
10/23 |
- |
7-55220177-A-G |
EGFR |
c.629-62A>G |
- |
IntronicSNV |
- |
5/27 |
17-29559932-C-T |
NF1 |
c.3496+33C>T |
- |
IntronicSNV |
- |
26/56 |
7-55221655-G-A |
EGFR |
c.748-49G>A |
- |
IntronicSNV |
- |
6/27 |
9-87390167-T-A |
NTRK2 |
c.1396+23167T>A |
- |
IntronicSNV |
- |
14/14 |
9-87372352-C-T |
NTRK2 |
c.1396+5352C>T |
- |
IntronicSNV |
- |
14/14 |
9-87390167-T-C |
NTRK2 |
c.1396+23167T>C |
- |
IntronicSNV |
- |
14/14 |
18-52928807-C-A |
TCF4 |
c.923-43G>T |
- |
IntronicSNV |
- |
11/19 |
18-52928807-C-T |
TCF4 |
c.923-43G>A |
- |
IntronicSNV |
- |
11/19 |
5-149439494-C-A |
CSF1R |
c.1970-69G>T |
- |
IntronicSNV |
- |
14/21 |
7-128850167-A-G |
SMO |
c.1467-37A>G |
- |
IntronicSNV |
- |
8/11 |
3-142218046-C-T |
ATR |
c.5380+423G>A |
- |
IntronicSNV |
- |
31/46 |
7-138541151-C-T |
KIAA1549 |
c.5248-4136G>A |
- |
IntronicSNV |
- |
16/19 |
7-138541151-C-G |
KIAA1549 |
c.5248-4136G>C |
- |
IntronicSNV |
- |
16/19 |
17-66511627-G-A |
PRKAR1A |
c.87G>A |
p.Ala29Ala |
Synonymous |
3/12 |
- |
9-87365866-A-T |
NTRK2 |
c.1297-1035A>T |
- |
IntronicSNV |
- |
13/14 |
14-95584095-A-C |
DICER1 |
c.1377-4T>G |
- |
IntronicSNV |
- |
10/28 |
17-7579472-G-T |
TP53 |
c.215C>A |
p.Pro72His |
Missense |
4/11 |
- |
10-14691889-A-G |
FAM107B |
c.469+17744T>C |
- |
IntronicSNV |
- |
2/4 |
7-138538088-T-C |
KIAA1549 |
c.5248-1073A>G |
- |
IntronicSNV |
- |
16/19 |
11-94179125-T-C |
MRE11 |
c.1784-66A>G |
- |
IntronicSNV |
- |
15/19 |
11-94179125-T-A |
MRE11 |
c.1784-66A>T |
- |
IntronicSNV |
- |
15/19 |
8-39862893-T-A |
IDO2 |
c.754T>A |
p.Ser252Thr |
Missense |
9/11 |
- |
2-29541299-C-T |
ALK |
c.1547-29G>A |
- |
IntronicSNV |
- |
7/28 |
9-2029018-G-A |
SMARCA2 |
c.1-5G>A |
- |
5-UTRSNV |
2/34 |
- |
17-7579579-C-T |
TP53 |
c.108G>A |
p.Pro36Pro |
Synonymous |
4/11 |
- |
X-76938153-G-C |
ATRX |
c.2595C>G |
p.His865Gln |
Missense |
9/35 |
- |
X-76938153-G-A |
ATRX |
c.2595C>T |
p.His865His |
Synonymous |
9/35 |
- |
6-135522755-A-G |
MYB |
c.1579-22A>G |
- |
IntronicSNV |
- |
12/14 |
13-32929232-A-T |
BRCA2 |
c.7242A>T |
p.Ser2414Ser |
Synonymous |
14/27 |
- |
13-32929232-A-G |
BRCA2 |
c.7242A>G |
p.Ser2414Ser |
Synonymous |
14/27 |
- |
19-51323501-A-G |
KLK1 |
c.405T>C |
p.Asp135Asp |
Synonymous |
3/5 |
- |
3-37083740-A-T |
MLH1 |
c.1668-19A>T |
- |
IntronicSNV |
- |
14/18 |
9-87391175-C-T |
NTRK2 |
c.1396+24175C>T |
- |
IntronicSNV |
- |
14/14 |
8-39872935-T-A |
IDO2 |
c.1077T>A |
p.Tyr359* |
Nonsense |
11/11 |
- |
9-87357451-C-T |
NTRK2 |
c.1195+609C>T |
- |
IntronicSNV |
- |
12/14 |
8-133910005-A-G |
TG |
c.3113A>G |
p.Glu1038Gly |
Missense |
12/48 |
- |
9-87371228-G-T |
NTRK2 |
c.1396+4228G>T |
- |
IntronicSNV |
- |
14/14 |
9-87371228-G-A |
NTRK2 |
c.1396+4228G>A |
- |
IntronicSNV |
- |
14/14 |
5-112177171-G-A |
APC |
c.5880G>A |
p.Pro1960Pro |
Synonymous |
16/16 |
- |
1-204506077-T-C |
MDM4 |
c.344-481T>C |
- |
IntronicSNV |
- |
5/10 |
1-120467876-G-A |
NOTCH2 |
c.4511+52C>T |
- |
IntronicSNV |
- |
25/33 |
14-105242966-T-C |
AKT1 |
c.287+30A>G |
- |
IntronicSNV |
- |
4/13 |
4-55133936-C-T |
PDGFRA |
c.1121+28C>T |
- |
IntronicSNV |
- |
7/22 |
16-68842480-G-C |
CDH1 |
c.531+10G>C |
- |
IntronicSNV |
- |
4/15 |
19-51323473-C-G |
KLK1 |
c.433G>C |
p.Glu145Gln |
Missense |
3/5 |
- |
19-11136215-C-G |
SMARCA4 |
c.3168+31C>G |
- |
IntronicSNV |
- |
22/34 |
9-2060768-T-C |
SMARCA2 |
c.1522-48T>C |
- |
IntronicSNV |
- |
8/33 |
19-17937758-C-T |
JAK3 |
c.3208-39G>A |
- |
IntronicSNV |
- |
23/23 |
4-55991461-C-A |
KDR |
c.1-1G>T |
- |
5-UTRSNV |
1/30 |
- |
9-87428807-C-T |
NTRK2 |
c.*3313C>T |
- |
3-UTRSNV |
15/15 |
- |
22-24167659-AA-AAAA |
SMARCB1 |
c.986+57_986+58dup |
- |
IntronicInsertion |
- |
7/8 |
7-148504859-T-TGACTTAAA |
EZH2 |
c.2196-62_2196-61insTTTAAGTC |
- |
IntronicInsertion |
- |
19/19 |
11-63535721-A-C |
C11orf95 |
c.139+235T>G |
- |
IntronicSNV |
- |
1/4 |
5-1258822-T-C |
TERT |
c.2782-48A>G |
- |
IntronicSNV |
- |
11/14 |
X-44929077-C-T |
KDM6A |
c.2177C>T |
p.Thr726Met |
Missense |
17/29 |
- |
9-87383571-C-T |
NTRK2 |
c.1396+16571C>T |
- |
IntronicSNV |
- |
14/14 |
X-44929077-C-A |
KDM6A |
c.2177C>A |
p.Thr726Lys |
Missense |
17/29 |
- |
12-18443955-C-A |
PIK3C2G |
c.919+9C>A |
- |
IntronicSNV |
- |
4/31 |
4-55593464-A-G |
KIT |
c.1621A>G |
p.Met541Val |
Missense |
10/21 |
- |
4-55593464-A-C |
KIT |
c.1621A>C |
p.Met541Leu |
Missense |
10/21 |
- |
17-78086398-G-T |
GAA |
c.1776G>T |
p.Gly592Gly |
Synonymous |
13/20 |
- |
9-2056861-G-GT |
SMARCA2 |
c.1347+16_1347+17insT |
- |
IntronicInsertion |
- |
7/33 |
7-138538228-A-G |
KIAA1549 |
c.5248-1213T>C |
- |
IntronicSNV |
- |
16/19 |
8-133898727-G-A |
TG |
c.1110G>A |
p.Gln370Gln |
Synonymous |
9/48 |
- |
17-78086398-G-C |
GAA |
c.1776G>C |
p.Gly592Gly |
Synonymous |
13/20 |
- |
12-18435452-C-T |
PIK3C2G |
c.437C>T |
p.Pro146Leu |
Missense |
2/32 |
- |
9-2077888-A-G |
SMARCA2 |
c.2184+112A>G |
- |
IntronicSNV |
- |
14/33 |
2-29416366-G-C |
ALK |
c.4587C>G |
p.Asp1529Glu |
Missense |
29/29 |
- |
17-78082577-G-A |
GAA |
c.1276G>A |
p.Ala426Thr |
Missense |
8/20 |
- |
20-57484311-C-G |
GNAS |
c.585+40C>G |
- |
IntronicSNV |
- |
7/12 |
2-29940529-A-C |
ALK |
c.702T>G |
p.Pro234Pro |
Synonymous |
2/29 |
- |
7-140485335-T-C |
BRAF |
c.1177+2013A>G |
- |
IntronicSNV |
- |
9/17 |
4-72631352-T-G |
GC |
c.270A>C |
p.Ala90Ala |
Synonymous |
4/13 |
- |
9-87378911-A-G |
NTRK2 |
c.1396+11911A>G |
- |
IntronicSNV |
- |
14/14 |
9-87369611-G-A |
NTRK2 |
c.1396+2611G>A |
- |
IntronicSNV |
- |
14/14 |
2-209104740-G-C |
IDH1 |
c.851-13C>G |
- |
IntronicSNV |
- |
7/9 |
5-112175770-G-A |
APC |
c.4479G>A |
p.Thr1493Thr |
Synonymous |
16/16 |
- |
9-87416528-C-T |
NTRK2 |
c.1397-8929C>T |
- |
IntronicSNV |
- |
14/14 |
9-87404070-A-G |
NTRK2 |
c.1397-21387A>G |
- |
IntronicSNV |
- |
14/14 |
17-78078569-A-C |
GAA |
c.184A>C |
p.Arg62Arg |
Synonymous |
2/20 |
- |
2-48030632-G-T |
MSH6 |
c.3246G>T |
p.Pro1082Pro |
Synonymous |
5/10 |
- |
7-128849111-C-T |
SMO |
c.1358-19C>T |
- |
IntronicSNV |
- |
7/11 |
4-72634047-CC-C |
GC |
c.235delG |
p.Ala79Leufs*48 |
Frameshift |
3/13 |
- |
1-120471857-C-T |
NOTCH2 |
c.3656-22G>A |
- |
IntronicSNV |
- |
22/33 |
17-78086745-C-A |
GAA |
c.1959C>A |
p.Thr653Thr |
Synonymous |
14/20 |
- |
9-87378922-C-G |
NTRK2 |
c.1396+11922C>G |
- |
IntronicSNV |
- |
14/14 |
17-29701202-A-C |
NF1 |
c.*29A>C |
- |
3-UTRSNV |
57/57 |
- |
12-121434643-TCAT-TCATTCAT |
HNF1A |
c.1309+98_1309+101dup |
- |
IntronicInsertion |
- |
6/9 |
7-148529922-C-T |
EZH2 |
c.247-80G>A |
- |
IntronicSNV |
- |
3/19 |
5-1279430-C-T |
TERT |
c.2106G>A |
p.Pro702Pro |
Synonymous |
5/15 |
- |
3-12645007-C-T |
RAF1 |
c.834+628G>A |
- |
IntronicSNV |
- |
7/16 |
1-27106975-C-T |
ARID1A |
c.5935C>T |
p.Leu1979Leu |
Synonymous |
20/20 |
- |
2-48030632-G-A |
MSH6 |
c.3246G>A |
p.Pro1082Pro |
Synonymous |
5/10 |
- |
2-48030632-G-C |
MSH6 |
c.3246G>C |
p.Pro1082Pro |
Synonymous |
5/10 |
- |
17-41244936-G-A |
BRCA1 |
c.2612C>T |
p.Pro871Leu |
Missense |
10/23 |
- |
5-112176325-G-A |
APC |
c.5034G>A |
p.Gly1678Gly |
Synonymous |
16/16 |
- |
16-71606538-CAC-ATC |
TAT |
c.460_462delGTGinsATC |
p.Val154Ile |
Missense |
5/12 |
- |
17-41244936-G-T |
BRCA1 |
c.2612C>A |
p.Pro871Gln |
Missense |
10/23 |
- |
17-41244936-G-C |
BRCA1 |
c.2612C>G |
p.Pro871Arg |
Missense |
10/23 |
- |
9-87396407-C-T |
NTRK2 |
c.1397-29050C>T |
- |
IntronicSNV |
- |
14/14 |
16-2125834-T-C |
TSC2 |
c.2580T>C |
p.Phe860Phe |
Synonymous |
23/42 |
- |
16-2125834-T-G |
TSC2 |
c.2580T>G |
p.Phe860Leu |
Missense |
23/42 |
- |
17-78086745-C-T |
GAA |
c.1959C>T |
p.Thr653Thr |
Synonymous |
14/20 |
- |
12-49436724-A-G |
KMT2D |
c.5645-63T>C |
- |
IntronicSNV |
- |
25/53 |
7-140490207-T-C |
BRAF |
c.1141-2823A>G |
- |
IntronicSNV |
- |
8/17 |
16-71606466-A-C |
TAT |
c.534T>G |
p.Ser178Ser |
Synonymous |
5/12 |
- |
17-78086745-C-G |
GAA |
c.1959C>G |
p.Thr653Thr |
Synonymous |
14/20 |
- |
16-2133640-C-G |
TSC2 |
c.3884-56C>G |
- |
IntronicSNV |
- |
32/41 |
9-87391445-A-G |
NTRK2 |
c.1396+24445A>G |
- |
IntronicSNV |
- |
14/14 |
16-71606466-A-G |
TAT |
c.534T>C |
p.Ser178Ser |
Synonymous |
5/12 |
- |
16-71606466-A-T |
TAT |
c.534T>A |
p.Ser178Ser |
Synonymous |
5/12 |
- |
1-120539331-C-G |
NOTCH2 |
c.751+289G>C |
- |
IntronicSNV |
- |
4/33 |
8-133880410-AA-A |
TG |
c.118delA |
p.Thr40Argfs*4 |
Frameshift |
2/48 |
- |
8-133894172-TTGC-T |
TG |
c.703_705delTGC |
p.Cys235delCys |
InFrameDeletion |
6/48 |
- |
9-98238379-A-G |
PTCH1 |
c.1665T>C |
p.Asn555Asn |
Synonymous |
12/24 |
- |
17-7579659-T-C |
TP53 |
c.96+41A>G |
- |
IntronicSNV |
- |
3/10 |
3-47125385-G-T |
SETD2 |
c.5885C>A |
p.Pro1962His |
Missense |
12/21 |
- |
17-7579659-T-G |
TP53 |
c.96+41A>C |
- |
IntronicSNV |
- |
3/10 |
3-47125385-G-A |
SETD2 |
c.5885C>T |
p.Pro1962Leu |
Missense |
12/21 |
- |
2-29541299-C-A |
ALK |
c.1547-29G>T |
- |
IntronicSNV |
- |
7/28 |
1-120611554-T-C |
NOTCH2 |
c.73+394A>G |
- |
IntronicSNV |
- |
1/33 |
22-21340088-T-C |
LZTR1 |
c.264-42T>C |
- |
IntronicSNV |
- |
2/20 |
22-21340088-T-G |
LZTR1 |
c.264-42T>G |
- |
IntronicSNV |
- |
2/20 |
16-71605540-G-A |
TAT |
c.728C>T |
p.Pro243Leu |
Missense |
7/12 |
- |
22-21348580-G-A |
LZTR1 |
c.1615+22G>A |
- |
IntronicSNV |
- |
14/20 |
7-55228053-A-G |
EGFR |
c.1498+22A>G |
- |
IntronicSNV |
- |
12/27 |
7-55228053-A-C |
EGFR |
c.1498+22A>C |
- |
IntronicSNV |
- |
12/27 |
6-157507504-C-T |
ARID1B |
c.3550+1935C>T |
- |
IntronicSNV |
- |
13/19 |
1-120480394-T-C |
NOTCH2 |
c.3337+86A>G |
- |
IntronicSNV |
- |
20/33 |
X-39932808-G-A |
BCOR |
c.1791C>T |
p.His597His |
Synonymous |
4/15 |
- |
2-29541104-C-T |
ALK |
c.1647+66G>A |
- |
IntronicSNV |
- |
8/28 |
3-142168331-C-T |
ATR |
c.7875G>A |
p.Gln2625Gln |
Synonymous |
47/47 |
- |
11-534242-A-G |
HRAS |
c.81T>C |
p.His27His |
Synonymous |
2/6 |
- |
9-87415435-A-G |
NTRK2 |
c.1397-10022A>G |
- |
IntronicSNV |
- |
14/14 |
12-18747528-C-T |
PIK3C2G |
c.3964+25C>T |
- |
IntronicSNV |
- |
29/31 |
7-55228053-A-T |
EGFR |
c.1498+22A>T |
- |
IntronicSNV |
- |
12/27 |
3-142217537-A-G |
ATR |
c.5460T>C |
p.Tyr1820Tyr |
Synonymous |
32/47 |
- |
17-78090884-G-A |
GAA |
c.2307G>A |
p.Leu769Leu |
Synonymous |
16/20 |
- |
11-69462910-G-A |
CCND1 |
c.723G>A |
p.Pro241Pro |
Synonymous |
4/5 |
- |
7-55233185-C-T |
EGFR |
c.1880+55C>T |
- |
IntronicSNV |
- |
15/27 |
17-41244000-T-A |
BRCA1 |
c.3548A>T |
p.Lys1183Ile |
Missense |
10/23 |
- |
17-41244000-T-C |
BRCA1 |
c.3548A>G |
p.Lys1183Arg |
Missense |
10/23 |
- |
4-72629598-T-C |
GC |
c.529A>G |
p.Ser177Gly |
Missense |
5/13 |
- |
8-133931652-T-G |
TG |
c.4410T>G |
p.Asp1470Glu |
Missense |
21/48 |
- |
8-133931652-T-A |
TG |
c.4410T>A |
p.Asp1470Glu |
Missense |
21/48 |
- |
6-26032274-T-C |
HIST1H3B |
c.15A>G |
p.Lys5Lys |
Synonymous |
1/1 |
- |
7-138550096-C-T |
KIAA1549 |
c.4929+2625G>A |
- |
IntronicSNV |
- |
15/19 |
9-87394832-G-A |
NTRK2 |
c.1396+27832G>A |
- |
IntronicSNV |
- |
14/14 |
5-112162854-T-G |
APC |
c.1458T>G |
p.Tyr486* |
Nonsense |
12/16 |
- |
11-63534596-G-T |
C11orf95 |
c.140-820C>A |
- |
IntronicSNV |
- |
1/4 |
1-120512104-T-C |
NOTCH2 |
c.1108+30A>G |
- |
IntronicSNV |
- |
6/33 |
9-87416478-G-A |
NTRK2 |
c.1397-8979G>A |
- |
IntronicSNV |
- |
14/14 |
9-133755528-A-G |
ABL1 |
c.1554A>G |
p.Glu518Glu |
Synonymous |
9/11 |
- |
10-43600689-A-G |
RET |
c.867+48A>G |
- |
IntronicSNV |
- |
4/19 |
13-32890572-G-C |
BRCA2 |
c.1-26G>C |
- |
5-UTRSNV |
2/27 |
- |
9-87406168-C-T |
NTRK2 |
c.1397-19289C>T |
- |
IntronicSNV |
- |
14/14 |
17-41216021-G-A |
BRCA1 |
c.5075-53C>T |
- |
IntronicSNV |
- |
16/22 |
4-55151711-C-A |
PDGFRA |
c.2439+58C>A |
- |
IntronicSNV |
- |
17/22 |
9-139399070-G-A |
NOTCH1 |
c.5018+55C>T |
- |
IntronicSNV |
- |
26/33 |
2-48010488-G-C |
MSH6 |
c.116G>C |
p.Gly39Ala |
Missense |
1/10 |
- |
9-133754032-A-G |
ABL1 |
c.1480+78A>G |
- |
IntronicSNV |
- |
8/10 |
17-41226488-C-A |
BRCA1 |
c.4535G>T |
p.Ser1512Ile |
Missense |
14/23 |
- |
10-123279745-C-T |
FGFR2 |
c.749-62G>A |
- |
IntronicSNV |
- |
6/17 |
4-55964370-C-G |
KDR |
c.2443G>C |
p.Glu815Gln |
Missense |
17/30 |
- |
5-161113004-G-C |
GABRA6 |
c.9G>C |
p.Ser3Ser |
Synonymous |
1/9 |
- |
5-161113004-G-A |
GABRA6 |
c.9G>A |
p.Ser3Ser |
Synonymous |
1/9 |
- |
9-139410589-A-G |
NOTCH1 |
c.1556-43T>C |
- |
IntronicSNV |
- |
9/33 |
4-55146406-T-TTGTAGGTCCCCCAG |
PDGFRA |
c.2157-77_2157-76insTGTAGGTCCCCCAG |
- |
IntronicInsertion |
- |
15/22 |
7-140486743-T-C |
BRAF |
c.1177+605A>G |
- |
IntronicSNV |
- |
9/17 |
3-142178144-C-T |
ATR |
c.7274G>A |
p.Arg2425Gln |
Missense |
43/47 |
- |
6-135522939-T-C |
MYB |
c.1689+52T>C |
- |
IntronicSNV |
- |
13/14 |
12-121431300-C-T |
HNF1A |
c.527-23C>T |
- |
IntronicSNV |
- |
2/9 |
4-55161295-G-A |
PDGFRA |
c.3126G>A |
p.Ser1042Ser |
Synonymous |
23/23 |
- |
4-55161295-G-T |
PDGFRA |
c.3126G>T |
p.Ser1042Ser |
Synonymous |
23/23 |
- |
9-133710819-T-TC |
ABL1 |
c.137-18632_137-18631insC |
- |
IntronicInsertion |
- |
1/10 |
9-87386499-A-G |
NTRK2 |
c.1396+19499A>G |
- |
IntronicSNV |
- |
14/14 |
1-45293709-G-A |
PTCH2 |
c.1864C>T |
p.His622Tyr |
Missense |
14/22 |
- |
12-49437399-T-A |
KMT2D |
c.5467+19A>T |
- |
IntronicSNV |
- |
23/53 |
9-87411744-T-A |
NTRK2 |
c.1397-13713T>A |
- |
IntronicSNV |
- |
14/14 |
13-53421432-C-A |
PCDH8 |
c.1140G>T |
p.Gly380Gly |
Synonymous |
1/3 |
- |
4-55599268-C-T |
KIT |
c.2394C>T |
p.Ile798Ile |
Synonymous |
17/21 |
- |
12-49422795-G-A |
KMT2D |
c.14251+49C>T |
- |
IntronicSNV |
- |
44/53 |
16-68862165-C-G |
CDH1 |
c.2253C>G |
p.Asn751Lys |
Missense |
14/16 |
- |
16-68862165-C-A |
CDH1 |
c.2253C>A |
p.Asn751Lys |
Missense |
14/16 |
- |
7-138544653-C-T |
KIAA1549 |
c.5247+1232G>A |
- |
IntronicSNV |
- |
16/19 |
7-55238087-C-T |
EGFR |
c.1881-781C>T |
- |
IntronicSNV |
- |
15/27 |
1-120463044-C-T |
NOTCH2 |
c.5311-24G>A |
- |
IntronicSNV |
- |
29/33 |
4-1801511-C-T |
FGFR3 |
c.417C>T |
p.Asp139Asp |
Synonymous |
4/18 |
- |
7-140486288-C-T |
BRAF |
c.1177+1060G>A |
- |
IntronicSNV |
- |
9/17 |
16-2221642-C-T |
TRAF7 |
c.475+36C>T |
- |
IntronicSNV |
- |
7/20 |
9-87419082-G-T |
NTRK2 |
c.1397-6375G>T |
- |
IntronicSNV |
- |
14/14 |
19-51323378-C-T |
KLK1 |
c.496+32G>A |
- |
IntronicSNV |
- |
3/4 |
5-149439458-T-A |
CSF1R |
c.1970-33A>T |
- |
IntronicSNV |
- |
14/21 |
2-29444095-C-G |
ALK |
c.3516-394G>C |
- |
IntronicSNV |
- |
22/28 |
9-139410589-A-C |
NOTCH1 |
c.1556-43T>G |
- |
IntronicSNV |
- |
9/33 |
12-49424534-G-A |
KMT2D |
c.13689C>T |
p.Pro4563Pro |
Synonymous |
41/54 |
- |
14-105258893-A-C |
AKT1 |
c.46+42T>G |
- |
IntronicSNV |
- |
2/13 |
9-87396208-A-G |
NTRK2 |
c.1396+29208A>G |
- |
IntronicSNV |
- |
14/14 |
9-87396208-A-C |
NTRK2 |
c.1396+29208A>C |
- |
IntronicSNV |
- |
14/14 |
5-149452844-C-T |
CSF1R |
c.1082+20G>A |
- |
IntronicSNV |
- |
7/21 |
4-72618352-T-A |
GC |
c.1278A>T |
p.Leu426Leu |
Synonymous |
11/13 |
- |
4-72618352-T-C |
GC |
c.1278A>G |
p.Leu426Leu |
Synonymous |
11/13 |
- |
1-120469077-T-G |
NOTCH2 |
c.4005+45A>C |
- |
IntronicSNV |
- |
24/33 |
4-55980456-C-T |
KDR |
c.659-24G>A |
- |
IntronicSNV |
- |
5/29 |
4-55146406-T-TTGTAGGTCCTCCAG |
PDGFRA |
c.2157-77_2157-76insTGTAGGTCCTCCAG |
- |
IntronicInsertion |
- |
15/22 |
17-41251931-G-A |
BRCA1 |
c.442-34C>T |
- |
IntronicSNV |
- |
6/22 |
22-30055674-A-G |
NF2 |
c.675+1421A>G |
- |
IntronicSNV |
- |
7/15 |
14-105258893-A-G |
AKT1 |
c.46+42T>C |
- |
IntronicSNV |
- |
2/13 |
5-131944276-A-G |
RAD50 |
c.2719-31A>G |
- |
IntronicSNV |
- |
16/24 |
19-40744697-T-C |
AKT2 |
c.708+115A>G |
- |
IntronicSNV |
- |
8/13 |
12-121416622-C-G |
HNF1A |
c.51C>G |
p.Leu17Leu |
Synonymous |
1/10 |
- |
12-121416622-C-T |
HNF1A |
c.51C>T |
p.Leu17Leu |
Synonymous |
1/10 |
- |
2-29432776-T-C |
ALK |
c.3744-32A>G |
- |
IntronicSNV |
- |
24/28 |
4-72618254-G-C |
GC |
c.1376C>G |
p.Pro459Arg |
Missense |
11/13 |
- |
11-94200962-A-C |
MRE11 |
c.1098+17T>G |
- |
IntronicSNV |
- |
10/19 |
9-87406956-G-T |
NTRK2 |
c.1397-18501G>T |
- |
IntronicSNV |
- |
14/14 |
9-2116037-G-A |
SMARCA2 |
c.3672G>A |
p.Glu1224Glu |
Synonymous |
25/34 |
- |
7-55233089-C-T |
EGFR |
c.1839C>T |
p.Ala613Ala |
Synonymous |
15/28 |
- |
2-29445458-G-T |
ALK |
c.3375C>A |
p.Gly1125Gly |
Synonymous |
21/29 |
- |
11-94212048-C-T |
MRE11 |
c.403-6G>A |
- |
IntronicSNV |
- |
5/19 |
9-87362412-T-G |
NTRK2 |
c.1296+2424T>G |
- |
IntronicSNV |
- |
13/14 |
9-87362412-T-C |
NTRK2 |
c.1296+2424T>C |
- |
IntronicSNV |
- |
13/14 |
9-87362412-T-A |
NTRK2 |
c.1296+2424T>A |
- |
IntronicSNV |
- |
13/14 |
7-128843396-G-A |
SMO |
c.503G>A |
p.Arg168His |
Missense |
2/12 |
- |
19-51323733-C-G |
KLK1 |
c.207-34G>C |
- |
IntronicSNV |
- |
2/4 |
11-108183167-A-G |
ATM |
c.5948A>G |
p.Asn1983Ser |
Missense |
40/63 |
- |
9-2116037-G-T |
SMARCA2 |
c.3672G>T |
p.Glu1224Asp |
Missense |
25/34 |
- |
19-17937758-C-A |
JAK3 |
c.3208-39G>T |
- |
IntronicSNV |
- |
23/23 |
X-76952289-C-G |
ATRX |
c.243-97G>C |
- |
IntronicSNV |
- |
4/34 |
X-44833826-T-C |
KDM6A |
c.335-85T>C |
- |
IntronicSNV |
- |
3/28 |
16-3900637-C-T |
CREBBP |
c.459G>A |
p.Pro153Pro |
Synonymous |
2/31 |
- |
19-17946054-G-T |
JAK3 |
c.1915-30C>A |
- |
IntronicSNV |
- |
14/23 |
10-103870951-C-A |
LDB1 |
c.174-50G>T |
- |
IntronicSNV |
- |
3/10 |
7-140493460-C-G |
BRAF |
c.1140+648G>C |
- |
IntronicSNV |
- |
8/17 |
9-2170512-G-C |
SMARCA2 |
c.4253+40G>C |
- |
IntronicSNV |
- |
29/33 |
9-139407932-A-G |
NOTCH1 |
c.2265T>C |
p.Asn755Asn |
Synonymous |
14/34 |
- |
9-2170512-G-A |
SMARCA2 |
c.4253+40G>A |
- |
IntronicSNV |
- |
29/33 |
16-2138218-A-G |
TSC2 |
c.5161-10A>G |
- |
IntronicSNV |
- |
40/41 |
19-51326950-C-T |
KLK1 |
c.46+9G>A |
- |
IntronicSNV |
- |
1/4 |
8-67514020-A-G |
MYBL1 |
c.127-16T>C |
- |
IntronicSNV |
- |
2/15 |
9-87413876-C-A |
NTRK2 |
c.1397-11581C>A |
- |
IntronicSNV |
- |
14/14 |
9-87413876-C-T |
NTRK2 |
c.1397-11581C>T |
- |
IntronicSNV |
- |
14/14 |
3-178927410-A-G |
PIK3CA |
c.1173A>G |
p.Ile391Met |
Missense |
7/21 |
- |
17-78091428-A-T |
GAA |
c.2361A>T |
p.Pro787Pro |
Synonymous |
17/20 |
- |
1-110300504-A-T |
EPS8L3 |
c.833-19T>A |
- |
IntronicSNV |
- |
9/18 |
10-43615633-C-A |
RET |
c.2712C>A |
p.Ser904Ser |
Synonymous |
15/20 |
- |
9-87364130-C-G |
NTRK2 |
c.1297-2771C>G |
- |
IntronicSNV |
- |
13/14 |
10-43615633-C-G |
RET |
c.2712C>G |
p.Ser904Ser |
Synonymous |
15/20 |
- |
9-87365120-A-G |
NTRK2 |
c.1297-1781A>G |
- |
IntronicSNV |
- |
13/14 |
9-87365120-A-T |
NTRK2 |
c.1297-1781A>T |
- |
IntronicSNV |
- |
13/14 |
19-3110098-G-C |
GNA11 |
c.137-49G>C |
- |
IntronicSNV |
- |
1/6 |
8-133880461-AG-CT |
TG |
c.169_170delAGinsCT |
p.Ser57Leu |
Missense |
2/48 |
- |
19-3110098-G-A |
GNA11 |
c.137-49G>A |
- |
IntronicSNV |
- |
1/6 |
8-133899450-A-C |
TG |
c.1833A>C |
p.Thr611Thr |
Synonymous |
9/48 |
- |
8-133899450-A-G |
TG |
c.1833A>G |
p.Thr611Thr |
Synonymous |
9/48 |
- |
8-133899450-A-T |
TG |
c.1833A>T |
p.Thr611Thr |
Synonymous |
9/48 |
- |
9-87410291-C-T |
NTRK2 |
c.1397-15166C>T |
- |
IntronicSNV |
- |
14/14 |
1-120458004-A-T |
NOTCH2 |
c.7341T>A |
p.Gly2447Gly |
Synonymous |
34/34 |
- |
7-138546955-T-G |
KIAA1549 |
c.4930-753A>C |
- |
IntronicSNV |
- |
15/19 |
7-138546955-T-C |
KIAA1549 |
c.4930-753A>G |
- |
IntronicSNV |
- |
15/19 |
5-1253887-C-T |
TERT |
c.3166G>A |
p.Ala1056Thr |
Missense |
15/15 |
- |
16-71602618-G-A |
TAT |
c.1220C>T |
p.Ala407Val |
Missense |
11/12 |
- |
3-9784705-C-T |
BRPF1 |
c.2079C>T |
p.Tyr693Tyr |
Synonymous |
7/14 |
- |
2-48010488-G-A |
MSH6 |
c.116G>A |
p.Gly39Glu |
Missense |
1/10 |
- |
12-121435475-G-A |
HNF1A |
c.1501+7G>A |
- |
IntronicSNV |
- |
7/9 |
9-87405212-G-A |
NTRK2 |
c.1397-20245G>A |
- |
IntronicSNV |
- |
14/14 |
12-121432302-T-G |
HNF1A |
c.955+94T>G |
- |
IntronicSNV |
- |
4/9 |
19-11097709-C-T |
SMARCA4 |
c.859+30C>T |
- |
IntronicSNV |
- |
5/34 |
8-133899546-C-G |
TG |
c.1929C>G |
p.Gly643Gly |
Synonymous |
9/48 |
- |
8-133899546-C-A |
TG |
c.1929C>A |
p.Gly643Gly |
Synonymous |
9/48 |
- |
8-133899546-C-T |
TG |
c.1929C>T |
p.Gly643Gly |
Synonymous |
9/48 |
- |
17-78086425-G-A |
GAA |
c.1803G>A |
p.Ser601Ser |
Synonymous |
13/20 |
- |
17-78086425-G-C |
GAA |
c.1803G>C |
p.Ser601Ser |
Synonymous |
13/20 |
- |
9-87361520-T-C |
NTRK2 |
c.1296+1532T>C |
- |
IntronicSNV |
- |
13/14 |
17-78086425-G-T |
GAA |
c.1803G>T |
p.Ser601Ser |
Synonymous |
13/20 |
- |
12-121416650-A-C |
HNF1A |
c.79A>C |
p.Ile27Leu |
Missense |
1/10 |
- |
19-11129600-C-T |
SMARCA4 |
c.2439-33C>T |
- |
IntronicSNV |
- |
16/34 |
1-226252232-C-T |
H3F3A |
c.128+52C>T |
- |
IntronicSNV |
- |
2/3 |
8-38272582-C-A |
FGFR1 |
c.1849-163G>T |
- |
IntronicSNV |
- |
13/17 |
9-139418260-A-G |
NOTCH1 |
c.312T>C |
p.Asn104Asn |
Synonymous |
3/34 |
- |
1-226253316-G-T |
H3F3A |
c.129-41G>T |
- |
IntronicSNV |
- |
2/3 |
11-108129657-A-T |
ATM |
c.2377-56A>T |
- |
IntronicSNV |
- |
15/62 |
1-43805240-A-G |
MPL |
c.690A>G |
p.Glu230Glu |
Synonymous |
4/12 |
- |
18-52928807-C-G |
TCF4 |
c.923-43G>C |
- |
IntronicSNV |
- |
11/19 |
5-161128761-C-T |
GABRA6 |
c.1344C>T |
p.Val448Val |
Synonymous |
9/9 |
- |
9-133729620-T-G |
ABL1 |
c.306T>G |
p.Thr102Thr |
Synonymous |
2/11 |
- |
19-11169514-C-T |
SMARCA4 |
c.4584C>T |
p.Asp1528Asp |
Synonymous |
32/35 |
- |
7-140486513-A-G |
BRAF |
c.1177+835T>C |
- |
IntronicSNV |
- |
9/17 |
19-3110361-C-G |
GNA11 |
c.321+30C>G |
- |
IntronicSNV |
- |
2/6 |
X-123184027-C-T |
STAG2 |
c.894-9C>T |
- |
IntronicSNV |
- |
9/32 |
X-123184027-C-G |
STAG2 |
c.894-9C>G |
- |
IntronicSNV |
- |
9/32 |
2-158637137-A-T |
ACVR1 |
c.68-25T>A |
- |
IntronicSNV |
- |
3/10 |
2-158637137-A-G |
ACVR1 |
c.68-25T>C |
- |
IntronicSNV |
- |
3/10 |
13-28674628-T-C |
FLT3 |
c.20A>G |
p.Asp7Gly |
Missense |
1/24 |
- |
5-161128761-C-G |
GABRA6 |
c.1344C>G |
p.Val448Val |
Synonymous |
9/9 |
- |
17-29652931-G-A |
NF1 |
c.4866G>A |
p.Val1622Val |
Synonymous |
36/57 |
- |
17-29652931-G-T |
NF1 |
c.4866G>T |
p.Val1622Val |
Synonymous |
36/57 |
- |
19-3110361-C-T |
GNA11 |
c.321+30C>T |
- |
IntronicSNV |
- |
2/6 |
1-27057621-A-C |
ARID1A |
c.1351-22A>C |
- |
IntronicSNV |
- |
2/19 |
5-149450132-T-C |
CSF1R |
c.1085A>G |
p.His362Arg |
Missense |
8/22 |
- |
9-139410177-T-C |
NOTCH1 |
c.1670-9A>G |
- |
IntronicSNV |
- |
10/33 |
1-27057621-A-T |
ARID1A |
c.1351-22A>T |
- |
IntronicSNV |
- |
2/19 |
5-1280477-G-A |
TERT |
c.1770-24C>T |
- |
IntronicSNV |
- |
3/14 |
12-4388084-C-A |
CCND2 |
c.570C>A |
p.Thr190Thr |
Synonymous |
3/5 |
- |
4-55972974-T-A |
KDR |
c.1416A>T |
p.Gln472His |
Missense |
11/30 |
- |
9-2191309-C-G |
SMARCA2 |
c.4638C>G |
p.Asp1546Glu |
Missense |
33/34 |
- |
9-87369508-C-T |
NTRK2 |
c.1396+2508C>T |
- |
IntronicSNV |
- |
14/14 |
3-37053568-A-C |
MLH1 |
c.655A>C |
p.Ile219Leu |
Missense |
8/19 |
- |
7-138539626-G-A |
KIAA1549 |
c.5248-2611C>T |
- |
IntronicSNV |
- |
16/19 |
16-85688341-C-T |
GSE1 |
c.600-59C>T |
- |
IntronicSNV |
- |
4/15 |
3-37053568-A-G |
MLH1 |
c.655A>G |
p.Ile219Val |
Missense |
8/19 |
- |
3-37053568-A-T |
MLH1 |
c.655A>T |
p.Ile219Phe |
Missense |
8/19 |
- |
21-38477330-G-A |
TTC3 |
c.846-3362G>A |
- |
IntronicSNV |
- |
10/45 |
18-53177774-G-C |
TCF4 |
c.146-46406C>G |
- |
IntronicSNV |
- |
3/19 |
8-39862881-C-T |
IDO2 |
c.742C>T |
p.Arg248Trp |
Missense |
9/11 |
- |
13-32936646-T-C |
BRCA2 |
c.7806-14T>C |
- |
IntronicSNV |
- |
16/26 |
11-108225661-A-T |
ATM |
c.8850+60A>T |
- |
IntronicSNV |
- |
61/62 |
7-116435768-C-G |
MET |
c.3858C>G |
p.Asp1286Glu |
Missense |
20/21 |
- |
9-87370565-G-A |
NTRK2 |
c.1396+3565G>A |
- |
IntronicSNV |
- |
14/14 |
19-11137135-T-C |
SMARCA4 |
c.3215+113T>C |
- |
IntronicSNV |
- |
23/34 |
8-133898964-C-G |
TG |
c.1347C>G |
p.Pro449Pro |
Synonymous |
9/48 |
- |
19-40739721-G-T |
AKT2 |
c.*58C>A |
- |
3-UTRSNV |
14/14 |
- |
4-55968180-T-A |
KDR |
c.2150A>T |
p.Asp717Val |
Missense |
15/30 |
- |
7-116397572-A-G |
MET |
c.1944A>G |
p.Gln648Gln |
Synonymous |
7/21 |
- |
4-72649708-C-G |
GC |
c.28G>C |
p.Ala10Pro |
Missense |
1/13 |
- |
7-138530264-T-C |
KIAA1549 |
c.5295-1045A>G |
- |
IntronicSNV |
- |
17/19 |
1-120465262-C-A |
NOTCH2 |
c.4999G>T |
p.Val1667Phe |
Missense |
27/34 |
- |
4-55980239-C-T |
KDR |
c.798+54G>A |
- |
IntronicSNV |
- |
6/29 |
13-28610183-A-G |
FLT3 |
c.1310-3T>C |
- |
IntronicSNV |
- |
10/23 |
9-87365308-A-T |
NTRK2 |
c.1297-1593A>T |
- |
IntronicSNV |
- |
13/14 |
4-55968053-A-C |
KDR |
c.2266+11T>G |
- |
IntronicSNV |
- |
15/29 |
4-55968053-A-G |
KDR |
c.2266+11T>C |
- |
IntronicSNV |
- |
15/29 |
9-87417373-A-G |
NTRK2 |
c.1397-8084A>G |
- |
IntronicSNV |
- |
14/14 |
7-140483400-T-C |
BRAF |
c.1178-443A>G |
- |
IntronicSNV |
- |
9/17 |
4-55979558-C-A |
KDR |
c.889G>T |
p.Val297Leu |
Missense |
7/30 |
- |
4-55152040-C-A |
PDGFRA |
c.2472C>A |
p.Val824Val |
Synonymous |
18/23 |
- |
10-131265665-T-G |
MGMT |
c.-13+105T>G |
- |
intron_variant |
- |
1/4 |
22-21349676-T-A |
LZTR1 |
c.1943-359T>A |
- |
IntronicSNV |
- |
16/20 |
12-121435587-G-T |
HNF1A |
c.1501+119G>T |
- |
IntronicSNV |
- |
7/9 |
12-57494360-T-G |
STAT6 |
c.1513-487A>C |
- |
IntronicSNV |
- |
13/21 |
11-108225661-A-G |
ATM |
c.8850+60A>G |
- |
IntronicSNV |
- |
61/62 |
9-87392708-A-G |
NTRK2 |
c.1396+25708A>G |
- |
IntronicSNV |
- |
14/14 |
3-37062040-T-G |
MLH1 |
c.1038+86T>G |
- |
IntronicSNV |
- |
11/18 |
3-37062040-T-C |
MLH1 |
c.1038+86T>C |
- |
IntronicSNV |
- |
11/18 |
22-21337415-C-G |
LZTR1 |
c.263+37C>G |
- |
IntronicSNV |
- |
2/20 |
9-87364130-C-T |
NTRK2 |
c.1297-2771C>T |
- |
IntronicSNV |
- |
13/14 |
1-120465262-C-T |
NOTCH2 |
c.4999G>A |
p.Val1667Ile |
Missense |
27/34 |
- |
9-87420283-T-C |
NTRK2 |
c.1397-5174T>C |
- |
IntronicSNV |
- |
14/14 |
9-2086804-G-A |
SMARCA2 |
c.2527-25G>A |
- |
IntronicSNV |
- |
17/33 |
4-55979558-C-T |
KDR |
c.889G>A |
p.Val297Ile |
Missense |
7/30 |
- |
4-55152040-C-T |
PDGFRA |
c.2472C>T |
p.Val824Val |
Synonymous |
18/23 |
- |
4-55127448-G-A |
PDGFRA |
c.236G>A |
p.Gly79Asp |
Missense |
3/23 |
- |
12-18496228-G-A |
PIK3C2G |
c.1396-33G>A |
- |
IntronicSNV |
- |
9/31 |
12-18496228-G-T |
PIK3C2G |
c.1396-33G>T |
- |
IntronicSNV |
- |
9/31 |
17-7576841-A-G |
TP53 |
c.993+12T>C |
- |
IntronicSNV |
- |
9/10 |
9-80409345-A-G |
GNAQ |
c.735+34T>C |
- |
IntronicSNV |
- |
5/6 |
16-71607508-G-C |
TAT |
c.342C>G |
p.Gly114Gly |
Synonymous |
4/12 |
- |
8-133981720-GTG-ATC |
TG |
c.5881_5883delGTGinsATC |
p.Val1961Ile |
Missense |
32/48 |
- |
9-139391636-G-A |
NOTCH1 |
c.6555C>T |
p.Asp2185Asp |
Synonymous |
34/34 |
- |
17-78082382-C-T |
GAA |
c.1170C>T |
p.Asn390Asn |
Synonymous |
7/20 |
- |
9-139411880-G-A |
NOTCH1 |
c.1442-43C>T |
- |
IntronicSNV |
- |
8/33 |
9-87386499-A-T |
NTRK2 |
c.1396+19499A>T |
- |
IntronicSNV |
- |
14/14 |
9-87395876-T-G |
NTRK2 |
c.1396+28876T>G |
- |
IntronicSNV |
- |
14/14 |
19-3119239-C-T |
GNA11 |
c.771C>T |
p.Thr257Thr |
Synonymous |
6/7 |
- |
X-9476990-A-G |
TBL1X |
c.-131+7101A>G |
- |
intron_variant |
- |
2/17 |
3-37034946-G-A |
MLH1 |
c.1-93G>A |
- |
5-UTRSNV |
1/19 |
- |
17-29701202-A-G |
NF1 |
c.*29A>G |
- |
3-UTRSNV |
57/57 |
- |
17-66520244-T-C |
PRKAR1A |
c.502+26T>C |
- |
IntronicSNV |
- |
6/11 |
9-87385227-A-T |
NTRK2 |
c.1396+18227A>T |
- |
IntronicSNV |
- |
14/14 |
9-87387192-A-G |
NTRK2 |
c.1396+20192A>G |
- |
IntronicSNV |
- |
14/14 |
9-87405604-A-C |
NTRK2 |
c.1397-19853A>C |
- |
IntronicSNV |
- |
14/14 |
7-138532679-T-TT |
KIAA1549 |
c.5295-3459_5295-3459dup |
- |
IntronicInsertion |
- |
17/19 |
7-138541151-C-A |
KIAA1549 |
c.5248-4136G>T |
- |
IntronicSNV |
- |
16/19 |
19-17955001-C-T |
JAK3 |
c.184+42G>A |
- |
IntronicSNV |
- |
2/23 |
9-87416027-A-G |
NTRK2 |
c.1397-9430A>G |
- |
IntronicSNV |
- |
14/14 |
5-1293389-C-G |
TERT |
c.1573+39G>C |
- |
IntronicSNV |
- |
2/14 |
9-87414794-A-T |
NTRK2 |
c.1397-10663A>T |
- |
IntronicSNV |
- |
14/14 |
5-131892979-G-A |
RAD50 |
c.1-38G>A |
- |
5-UTRSNV |
1/25 |
- |
5-131892979-G-C |
RAD50 |
c.1-38G>C |
- |
5-UTRSNV |
1/25 |
- |
9-98221861-T-C |
PTCH1 |
c.2887+21A>G |
- |
IntronicSNV |
- |
17/23 |
19-17952609-T-G |
JAK3 |
c.862-38A>C |
- |
IntronicSNV |
- |
6/23 |
16-71606093-C-A |
TAT |
c.702G>T |
p.Leu234Leu |
Synonymous |
6/12 |
- |
16-71606093-C-G |
TAT |
c.702G>C |
p.Leu234Leu |
Synonymous |
6/12 |
- |
11-63534933-T-C |
C11orf95 |
c.139+1023A>G |
- |
IntronicSNV |
- |
1/4 |
7-138547941-G-C |
KIAA1549 |
c.4930-1739C>G |
- |
IntronicSNV |
- |
15/19 |
1-204507128-T-G |
MDM4 |
c.412-209T>G |
- |
IntronicSNV |
- |
6/10 |
X-39933339-A-G |
BCOR |
c.1260T>C |
p.Asp420Asp |
Synonymous |
4/15 |
- |
10-131265452-C-T |
MGMT |
c.1-28C>T |
- |
IntergenicSNV |
1/5 |
- |
X-44966795-T-C |
KDM6A |
c.4005+14T>C |
- |
IntronicSNV |
- |
27/28 |
19-11170786-G-T |
SMARCA4 |
c.4834G>T |
p.Gly1612Cys |
Missense |
34/35 |
- |
16-71606093-C-T |
TAT |
c.702G>A |
p.Leu234Leu |
Synonymous |
6/12 |
- |
9-87421631-A-G |
NTRK2 |
c.1397-3826A>G |
- |
IntronicSNV |
- |
14/14 |
1-51439959-C-G |
CDKN2C |
c.*17C>G |
- |
3-UTRSNV |
3/3 |
- |
1-45293752-T-C |
PTCH2 |
c.1821A>G |
p.Glu607Glu |
Synonymous |
14/22 |
- |
10-131334511-G-A |
MGMT |
c.88G>A |
p.Gly30Arg |
Missense |
2/5 |
- |
2-48027520-G-C |
MSH6 |
c.2398G>C |
p.Val800Leu |
Missense |
4/10 |
- |
13-28609846-A-T |
FLT3 |
c.1419-36T>A |
- |
IntronicSNV |
- |
11/23 |
19-3119406-G-A |
GNA11 |
c.889+49G>A |
- |
IntronicSNV |
- |
6/6 |
9-139405261-C-T |
NOTCH1 |
c.2588-4G>A |
- |
IntronicSNV |
- |
16/33 |
9-139405261-C-A |
NOTCH1 |
c.2588-4G>T |
- |
IntronicSNV |
- |
16/33 |
9-139405261-C-G |
NOTCH1 |
c.2588-4G>C |
- |
IntronicSNV |
- |
16/33 |
19-11170839-T-C |
SMARCA4 |
c.4887T>C |
p.Asp1629Asp |
Synonymous |
34/35 |
- |
7-138543324-C-T |
KIAA1549 |
c.5247+2561G>A |
- |
IntronicSNV |
- |
16/19 |
1-51439777-C-T |
CDKN2C |
c.342C>T |
p.Gly114Gly |
Synonymous |
3/3 |
- |
2-159971363-A-G |
TANC1 |
c.259+17017A>G |
- |
IntronicSNV |
- |
4/26 |
7-128850341-G-T |
SMO |
c.1604G>T |
p.Trp535Leu |
Missense |
9/12 |
- |
11-94203868-A-T |
MRE11 |
c.846-60T>A |
- |
IntronicSNV |
- |
8/19 |
11-94203868-A-C |
MRE11 |
c.846-60T>G |
- |
IntronicSNV |
- |
8/19 |
11-94203868-A-G |
MRE11 |
c.846-60T>C |
- |
IntronicSNV |
- |
8/19 |
17-78092156-T-C |
GAA |
c.2646T>C |
p.Asn882Asn |
Synonymous |
18/20 |
- |
7-140485690-C-A |
BRAF |
c.1177+1658G>T |
- |
IntronicSNV |
- |
9/17 |
7-140485690-C-T |
BRAF |
c.1177+1658G>A |
- |
IntronicSNV |
- |
9/17 |
7-138541212-C-T |
KIAA1549 |
c.5248-4197G>A |
- |
IntronicSNV |
- |
16/19 |
9-87398906-G-T |
NTRK2 |
c.1397-26551G>T |
- |
IntronicSNV |
- |
14/14 |
9-87426187-C-T |
NTRK2 |
c.*693C>T |
- |
3-UTRSNV |
15/15 |
- |
2-209104740-G-A |
IDH1 |
c.851-13C>T |
- |
IntronicSNV |
- |
7/9 |
9-87413013-T-G |
NTRK2 |
c.1397-12444T>G |
- |
IntronicSNV |
- |
14/14 |
1-45292173-G-A |
PTCH2 |
c.2963C>T |
p.Thr988Met |
Missense |
18/22 |
- |
20-57484934-C-T |
GNAS |
c.840-72C>T |
- |
IntronicSNV |
- |
10/12 |
7-140492411-T-C |
BRAF |
c.1140+1697A>G |
- |
IntronicSNV |
- |
8/17 |
10-131506192-C-T |
MGMT |
c.159C>T |
- |
synonymous_variant |
3/5 |
- |
10-131506192-C-A |
MGMT |
c.159C>A |
- |
synonymous_variant |
3/5 |
- |
12-49426460-A-G |
KMT2D |
c.12028T>C |
p.Ser4010Pro |
Missense |
39/54 |
- |
4-1808523-G-A |
FGFR3 |
c.2169-33G>A |
- |
IntronicSNV |
- |
16/17 |
7-92355225-C-T |
CDK6 |
c.370-118G>A |
- |
IntronicSNV |
- |
3/7 |
17-66524987-G-A |
PRKAR1A |
c.770-24G>A |
- |
IntronicSNV |
- |
9/11 |
17-66524987-G-T |
PRKAR1A |
c.770-24G>T |
- |
IntronicSNV |
- |
9/11 |
9-87401314-A-G |
NTRK2 |
c.1397-24143A>G |
- |
IntronicSNV |
- |
14/14 |
8-133899309-C-T |
TG |
c.1692C>T |
p.Ala564Ala |
Synonymous |
9/48 |
- |
20-57484363-G-A |
GNAS |
c.586-42G>A |
- |
IntronicSNV |
- |
7/12 |
20-57484363-G-C |
GNAS |
c.586-42G>C |
- |
IntronicSNV |
- |
7/12 |
16-3900713-G-C |
CREBBP |
c.383C>G |
p.Ser128Cys |
Missense |
2/31 |
- |
10-104386934-T-C |
SUFU |
c.1299T>C |
p.Ile433Ile |
Synonymous |
11/12 |
- |
2-158636910-G-A |
ACVR1 |
c.270C>T |
p.Ala90Ala |
Synonymous |
4/11 |
- |
5-146648337-G-T |
STK32A |
c.53-9350G>T |
- |
IntronicSNV |
- |
2/6 |
7-116411923-C-T |
MET |
c.2908C>T |
p.Arg970Cys |
Missense |
14/21 |
- |
11-108224615-A-C |
ATM |
c.8786+8A>C |
- |
IntronicSNV |
- |
60/62 |
20-57478807-C-G |
GNAS |
c.393C>G |
p.Ile131Met |
Missense |
5/13 |
- |
20-57478807-C-T |
GNAS |
c.393C>T |
p.Ile131Ile |
Synonymous |
5/13 |
- |
7-138534762-G-A |
KIAA1549 |
c.5294+2207C>T |
- |
IntronicSNV |
- |
17/19 |
7-55266417-T-A |
EGFR |
c.2709T>A |
p.Thr903Thr |
Synonymous |
23/28 |
- |
9-87387622-A-G |
NTRK2 |
c.1396+20622A>G |
- |
IntronicSNV |
- |
14/14 |
6-157519938-A-G |
ARID1B |
c.4014-7A>G |
- |
IntronicSNV |
- |
16/19 |
17-41219560-C-A |
BRCA1 |
c.5074+65G>T |
- |
IntronicSNV |
- |
16/22 |
16-2115506-C-A |
TSC2 |
c.1600-14C>A |
- |
IntronicSNV |
- |
15/41 |
7-138540942-G-A |
KIAA1549 |
c.5248-3927C>T |
- |
IntronicSNV |
- |
16/19 |
4-55161391-T-C |
PDGFRA |
c.3222T>C |
p.Asp1074Asp |
Synonymous |
23/23 |
- |
16-2115506-C-T |
TSC2 |
c.1600-14C>T |
- |
IntronicSNV |
- |
15/41 |
2-242682029-T-C |
D2HGDH |
c.490+40T>C |
- |
IntronicSNV |
- |
4/9 |
22-29130458-T-C |
CHEK2 |
c.252A>G |
p.Glu84Glu |
Synonymous |
2/16 |
- |
9-87390418-T-C |
NTRK2 |
c.1396+23418T>C |
- |
IntronicSNV |
- |
14/14 |
17-78091543-C-T |
GAA |
c.2476C>T |
p.Leu826Leu |
Synonymous |
17/20 |
- |
7-138532208-G-A |
KIAA1549 |
c.5295-2989C>T |
- |
IntronicSNV |
- |
17/19 |
9-135781563-G-A |
TSC1 |
c.1439-37C>T |
- |
IntronicSNV |
- |
14/22 |
7-116436097-G-A |
MET |
c.4092G>A |
p.Pro1364Pro |
Synonymous |
21/21 |
- |
9-139393307-A-G |
NOTCH1 |
c.6180+44T>C |
- |
IntronicSNV |
- |
33/33 |
12-121434729-A-AA |
HNF1A |
c.1309+184_1309+184dup |
- |
IntronicInsertion |
- |
6/9 |
11-108163487-C-T |
ATM |
c.4578C>T |
p.Pro1526Pro |
Synonymous |
30/63 |
- |
6-26045737-C-G |
HIST1H3C |
c.99C>G |
p.Thr33Thr |
Synonymous |
1/1 |
- |
2-242680430-A-T |
D2HGDH |
c.293-18A>T |
- |
IntronicSNV |
- |
2/9 |
9-87409715-C-A |
NTRK2 |
c.1397-15742C>A |
- |
IntronicSNV |
- |
14/14 |
9-87409715-C-T |
NTRK2 |
c.1397-15742C>T |
- |
IntronicSNV |
- |
14/14 |
4-55968053-A-T |
KDR |
c.2266+11T>A |
- |
IntronicSNV |
- |
15/29 |
9-87424241-T-C |
NTRK2 |
c.1397-1216T>C |
- |
IntronicSNV |
- |
14/14 |
7-55238874-T-A |
EGFR |
c.1887T>A |
p.Thr629Thr |
Synonymous |
16/28 |
- |
7-55238874-T-G |
EGFR |
c.1887T>G |
p.Thr629Thr |
Synonymous |
16/28 |
- |
12-49442875-G-C |
KMT2D |
c.4020+13C>G |
- |
IntronicSNV |
- |
12/53 |
2-242680430-A-C |
D2HGDH |
c.293-18A>C |
- |
IntronicSNV |
- |
2/9 |
10-104389932-T-A |
SUFU |
c.*20T>A |
- |
3-UTRSNV |
12/12 |
- |
7-128845018-C-T |
SMO |
c.538-26C>T |
- |
IntronicSNV |
- |
2/11 |
19-3119389-G-A |
GNA11 |
c.889+32G>A |
- |
IntronicSNV |
- |
6/6 |
16-2225823-G-A |
TRAF7 |
c.1627-12G>A |
- |
IntronicSNV |
- |
17/20 |
19-3119389-G-T |
GNA11 |
c.889+32G>T |
- |
IntronicSNV |
- |
6/6 |
9-2039973-C-T |
SMARCA2 |
c.790+73C>T |
- |
IntronicSNV |
- |
4/33 |
19-40739513-A-G |
AKT2 |
c.*266T>C |
- |
3-UTRSNV |
14/14 |
- |
6-157488325-C-T |
ARID1B |
c.3025+6C>T |
- |
IntronicSNV |
- |
10/19 |
1-27089446-G-C |
ARID1A |
c.2420-18G>C |
- |
IntronicSNV |
- |
7/19 |
6-33288075-C-A |
DAXX |
c.1252-74G>T |
- |
IntronicSNV |
- |
4/7 |
14-105239192-T-C |
AKT1 |
c.1172+23A>G |
- |
IntronicSNV |
- |
11/13 |
1-120611498-G-C |
NOTCH2 |
c.73+450C>G |
- |
IntronicSNV |
- |
1/33 |
1-120611498-G-A |
NOTCH2 |
c.73+450C>T |
- |
IntronicSNV |
- |
1/33 |
9-98218475-C-CC |
PTCH1 |
c.3306+83_3306+83dup |
- |
IntronicInsertion |
- |
19/23 |
3-37070437-G-A |
MLH1 |
c.1558+14G>A |
- |
IntronicSNV |
- |
13/18 |
4-72631352-T-A |
GC |
c.270A>T |
p.Ala90Ala |
Synonymous |
4/13 |
- |
4-72631352-T-C |
GC |
c.270A>G |
p.Ala90Ala |
Synonymous |
4/13 |
- |
12-25368462-C-T |
KRAS |
c.483G>A |
p.Arg161Arg |
Synonymous |
5/6 |
- |
10-43613843-G-T |
RET |
c.2307G>T |
p.Leu769Leu |
Synonymous |
13/20 |
- |
8-67479098-A-G |
MYBL1 |
c.1845+13T>C |
- |
IntronicSNV |
- |
13/15 |
9-87385256-A-C |
NTRK2 |
c.1396+18256A>C |
- |
IntronicSNV |
- |
14/14 |
9-87417787-T-G |
NTRK2 |
c.1397-7670T>G |
- |
IntronicSNV |
- |
14/14 |
9-87317229-G-A |
NTRK2 |
c.288-34G>A |
- |
IntronicSNV |
- |
5/14 |
2-69260357-A-T |
ANTXR1 |
c.153-6819A>T |
- |
IntronicSNV |
- |
1/17 |
1-45297784-C-T |
PTCH2 |
c.455+40G>A |
- |
IntronicSNV |
- |
3/21 |
9-87403399-T-C |
NTRK2 |
c.1397-22058T>C |
- |
IntronicSNV |
- |
14/14 |
5-149452793-C-T |
CSF1R |
c.1082+71G>A |
- |
IntronicSNV |
- |
7/21 |
19-17952185-G-A |
JAK3 |
c.1142+13C>T |
- |
IntronicSNV |
- |
8/23 |
6-157522360-G-A |
ARID1B |
c.4632G>A |
p.Pro1544Pro |
Synonymous |
18/20 |
- |
4-55151711-C-G |
PDGFRA |
c.2439+58C>G |
- |
IntronicSNV |
- |
17/22 |
9-87391887-C-A |
NTRK2 |
c.1396+24887C>A |
- |
IntronicSNV |
- |
14/14 |
1-120469077-T-C |
NOTCH2 |
c.4005+45A>G |
- |
IntronicSNV |
- |
24/33 |
8-38287555-C-T |
FGFR1 |
c.92-89G>A |
- |
IntronicSNV |
- |
2/17 |
1-120611876-C-G |
NOTCH2 |
c.73+72G>C |
- |
IntronicSNV |
- |
1/33 |
16-2130384-G-A |
TSC2 |
c.3610+6G>A |
- |
IntronicSNV |
- |
30/41 |
17-29508775-G-T |
NF1 |
c.702G>T |
p.Leu234Leu |
Synonymous |
7/57 |
- |
10-43595968-A-C |
RET |
c.135A>C |
p.Ala45Ala |
Synonymous |
2/20 |
- |
10-43595968-A-G |
RET |
c.135A>G |
p.Ala45Ala |
Synonymous |
2/20 |
- |
17-41222975-C-T |
BRCA1 |
c.4956G>A |
p.Met1652Ile |
Missense |
15/23 |
- |
4-1807894-G-A |
FGFR3 |
c.1953G>A |
p.Thr651Thr |
Synonymous |
14/18 |
- |
7-138532408-T-C |
KIAA1549 |
c.5295-3189A>G |
- |
IntronicSNV |
- |
17/19 |
5-131945121-C-T |
RAD50 |
c.3036+33C>T |
- |
IntronicSNV |
- |
19/24 |
7-140449150-T-C |
BRAF |
c.1929A>G |
p.Gly643Gly |
Synonymous |
16/18 |
- |
5-112178492-C-T |
APC |
c.7201C>T |
p.Leu2401Leu |
Synonymous |
16/16 |
- |
2-242690745-C-T |
D2HGDH |
c.1082C>T |
p.Ala361Val |
Missense |
8/10 |
- |
7-138539862-G-C |
KIAA1549 |
c.5248-2847C>G |
- |
IntronicSNV |
- |
16/19 |
7-138539862-G-A |
KIAA1549 |
c.5248-2847C>T |
- |
IntronicSNV |
- |
16/19 |
9-87416825-A-T |
NTRK2 |
c.1397-8632A>T |
- |
IntronicSNV |
- |
14/14 |
9-87416825-A-G |
NTRK2 |
c.1397-8632A>G |
- |
IntronicSNV |
- |
14/14 |
7-148506064-A-T |
EZH2 |
c.2195+99T>A |
- |
IntronicSNV |
- |
19/19 |
7-148506064-A-G |
EZH2 |
c.2195+99T>C |
- |
IntronicSNV |
- |
19/19 |
7-116339672-C-T |
MET |
c.534C>T |
p.Ser178Ser |
Synonymous |
2/21 |
- |
7-148504859-T-TGACTG |
EZH2 |
c.2196-62_2196-61insCAGTC |
- |
IntronicInsertion |
- |
19/19 |
7-148504859-T-TGACTA |
EZH2 |
c.2196-62_2196-61insTAGTC |
- |
IntronicInsertion |
- |
19/19 |
9-2077875-T-C |
SMARCA2 |
c.2184+99T>C |
- |
IntronicSNV |
- |
14/33 |
13-48947503-C-A |
RB1 |
c.1128-38C>A |
- |
IntronicSNV |
- |
11/26 |
9-135786904-A-G |
TSC1 |
c.965T>C |
p.Met322Thr |
Missense |
10/23 |
- |
5-112178492-C-G |
APC |
c.7201C>G |
p.Leu2401Val |
Missense |
16/16 |
- |
9-87391777-T-C |
NTRK2 |
c.1396+24777T>C |
- |
IntronicSNV |
- |
14/14 |
7-138544500-C-T |
KIAA1549 |
c.5247+1385G>A |
- |
IntronicSNV |
- |
16/19 |
4-128607832-T-C |
INTU |
c.1260-1001T>C |
- |
IntronicSNV |
- |
7/15 |
19-17951178-G-A |
JAK3 |
c.1143-28C>T |
- |
IntronicSNV |
- |
8/23 |
17-7579619-G-T |
TP53 |
c.97-29C>A |
- |
IntronicSNV |
- |
3/10 |
3-142222284-A-G |
ATR |
c.5208T>C |
p.Tyr1736Tyr |
Synonymous |
30/47 |
- |
1-204516025-A-G |
MDM4 |
c.903+20A>G |
- |
IntronicSNV |
- |
10/10 |
2-242680366-A-G |
D2HGDH |
c.293-82A>G |
- |
IntronicSNV |
- |
2/9 |
17-41244435-T-C |
BRCA1 |
c.3113A>G |
p.Glu1038Gly |
Missense |
10/23 |
- |
10-103870936-G-A |
LDB1 |
c.174-35C>T |
- |
IntronicSNV |
- |
3/10 |
17-41245466-G-A |
BRCA1 |
c.2082C>T |
p.Ser694Ser |
Synonymous |
10/23 |
- |
9-87405751-A-T |
NTRK2 |
c.1397-19706A>T |
- |
IntronicSNV |
- |
14/14 |
9-87362039-A-G |
NTRK2 |
c.1296+2051A>G |
- |
IntronicSNV |
- |
13/14 |
16-85667677-G-A |
GSE1 |
c.165G>A |
p.Ala55Ala |
Synonymous |
2/16 |
- |
16-68771372-C-T |
CDH1 |
c.48+6C>T |
- |
IntronicSNV |
- |
1/15 |
9-87391128-G-A |
NTRK2 |
c.1396+24128G>A |
- |
IntronicSNV |
- |
14/14 |
8-133935615-C-T |
TG |
c.4561C>T |
p.Leu1521Leu |
Synonymous |
22/48 |
- |
17-78081691-C-T |
GAA |
c.951C>T |
p.Ala317Ala |
Synonymous |
5/20 |
- |
17-78081691-C-A |
GAA |
c.951C>A |
p.Ala317Ala |
Synonymous |
5/20 |
- |
17-78081691-C-G |
GAA |
c.951C>G |
p.Ala317Ala |
Synonymous |
5/20 |
- |
17-7579801-G-T |
TP53 |
c.74+38C>A |
- |
IntronicSNV |
- |
2/10 |
1-120539331-C-A |
NOTCH2 |
c.751+289G>T |
- |
IntronicSNV |
- |
4/33 |
17-7579801-G-C |
TP53 |
c.74+38C>G |
- |
IntronicSNV |
- |
2/10 |
17-7579801-G-A |
TP53 |
c.74+38C>T |
- |
IntronicSNV |
- |
2/10 |
1-120539331-C-T |
NOTCH2 |
c.751+289G>A |
- |
IntronicSNV |
- |
4/33 |
19-11107133-T-C |
SMARCA4 |
c.1762-37T>C |
- |
IntronicSNV |
- |
10/34 |
17-38788348-C-T |
SMARCE1 |
c.714+99G>A |
- |
IntronicSNV |
- |
8/10 |
5-161119125-C-A |
GABRA6 |
c.1005C>A |
p.Ala335Ala |
Synonymous |
8/9 |
- |
5-161119125-C-G |
GABRA6 |
c.1005C>G |
p.Ala335Ala |
Synonymous |
8/9 |
- |
11-94225920-C-A |
MRE11 |
c.20+28G>T |
- |
IntronicSNV |
- |
2/19 |
9-98239147-A-G |
PTCH1 |
c.1504-8T>C |
- |
IntronicSNV |
- |
10/23 |
7-140477756-C-G |
BRAF |
c.1517+35G>C |
- |
IntronicSNV |
- |
12/17 |
9-87402136-T-C |
NTRK2 |
c.1397-23321T>C |
- |
IntronicSNV |
- |
14/14 |
14-95581961-G-A |
DICER1 |
c.1907+43C>T |
- |
IntronicSNV |
- |
13/28 |
11-94225920-C-T |
MRE11 |
c.20+28G>A |
- |
IntronicSNV |
- |
2/19 |
1-120463044-C-G |
NOTCH2 |
c.5311-24G>C |
- |
IntronicSNV |
- |
29/33 |
7-138531050-C-T |
KIAA1549 |
c.5295-1831G>A |
- |
IntronicSNV |
- |
17/19 |
17-41251931-G-C |
BRCA1 |
c.442-34C>G |
- |
IntronicSNV |
- |
6/22 |
17-41251931-G-T |
BRCA1 |
c.442-34C>A |
- |
IntronicSNV |
- |
6/22 |
6-135523786-G-A |
MYB |
c.1690-569G>A |
- |
IntronicSNV |
- |
13/14 |
4-72622548-G-C |
GC |
c.915C>G |
p.Ala305Ala |
Synonymous |
8/13 |
- |
5-149435759-G-A |
CSF1R |
c.2442+23C>T |
- |
IntronicSNV |
- |
18/21 |
9-98209594-G-C |
PTCH1 |
c.3944C>G |
p.Pro1315Arg |
Missense |
23/24 |
- |
8-133906114-G-A |
TG |
c.2941G>A |
p.Ala981Thr |
Missense |
11/48 |
- |
1-110300504-A-C |
EPS8L3 |
c.833-19T>G |
- |
IntronicSNV |
- |
9/18 |
12-46285585-G-C |
ARID2 |
c.4945G>C |
p.Val1649Leu |
Missense |
17/21 |
- |
4-72629590-G-T |
GC |
c.537C>A |
p.Thr179Thr |
Synonymous |
5/13 |
- |
6-157507670-G-A |
ARID1B |
c.3550+2101G>A |
- |
IntronicSNV |
- |
13/19 |
1-110300504-A-G |
EPS8L3 |
c.833-19T>C |
- |
IntronicSNV |
- |
9/18 |
13-49051012-C-T |
RB1 |
c.2663+33C>T |
- |
IntronicSNV |
- |
25/26 |
9-139396408-A-G |
NOTCH1 |
c.5473-43T>C |
- |
IntronicSNV |
- |
29/33 |
3-47187075-C-G |
SETD2 |
c.71+18269G>C |
- |
IntronicSNV |
- |
1/20 |
19-51323676-C-T |
KLK1 |
c.230G>A |
p.Arg77His |
Missense |
3/5 |
- |
11-108129657-A-G |
ATM |
c.2377-56A>G |
- |
IntronicSNV |
- |
15/62 |
1-51435946-C-T |
CDKN2C |
c.1-95C>T |
- |
IntronicSNV |
- |
1/2 |
22-30035021-G-A |
NF2 |
c.241-58G>A |
- |
IntronicSNV |
- |
2/15 |
16-71607508-G-A |
TAT |
c.342C>T |
p.Gly114Gly |
Synonymous |
4/12 |
- |
12-18499777-C-A |
PIK3C2G |
c.1625+7C>A |
- |
IntronicSNV |
- |
11/31 |
10-43572832-G-A |
RET |
c.73+53G>A |
- |
IntronicSNV |
- |
1/19 |
8-133905999-T-C |
TG |
c.2826T>C |
p.Ile942Ile |
Synonymous |
11/48 |
- |
9-87408950-C-T |
NTRK2 |
c.1397-16507C>T |
- |
IntronicSNV |
- |
14/14 |
16-71607508-G-T |
TAT |
c.342C>A |
p.Gly114Gly |
Synonymous |
4/12 |
- |
13-28609825-A-G |
FLT3 |
c.1419-15T>C |
- |
IntronicSNV |
- |
11/23 |
12-121435587-G-A |
HNF1A |
c.1501+119G>A |
- |
IntronicSNV |
- |
7/9 |
19-11113997-G-T |
SMARCA4 |
c.1944-19G>T |
- |
IntronicSNV |
- |
12/34 |
7-138536610-G-A |
KIAA1549 |
c.5294+359C>T |
- |
IntronicSNV |
- |
17/19 |
9-87396495-T-C |
NTRK2 |
c.1397-28962T>C |
- |
IntronicSNV |
- |
14/14 |
9-2182290-G-A |
SMARCA2 |
c.4461+48G>A |
- |
IntronicSNV |
- |
31/33 |
18-52901996-AAGG-AAGGAAGG |
TCF4 |
c.1351-84_1351-81dup |
- |
IntronicInsertion |
- |
15/19 |
22-21348914-C-T |
LZTR1 |
c.1683C>T |
p.Arg561Arg |
Synonymous |
15/21 |
- |
16-71609883-G-A |
TAT |
c.282C>T |
p.Thr94Thr |
Synonymous |
3/12 |
- |
16-71609883-G-C |
TAT |
c.282C>G |
p.Thr94Thr |
Synonymous |
3/12 |
- |
13-32915005-G-C |
BRCA2 |
c.6513G>C |
p.Val2171Val |
Synonymous |
11/27 |
- |
2-69260300-A-G |
ANTXR1 |
c.153-6876A>G |
- |
IntronicSNV |
- |
1/17 |
12-18443809-C-T |
PIK3C2G |
c.782C>T |
p.Ala261Val |
Missense |
4/32 |
- |
11-108224615-A-G |
ATM |
c.8786+8A>G |
- |
IntronicSNV |
- |
60/62 |
7-140453929-T-C |
BRAF |
c.1741+58A>G |
- |
IntronicSNV |
- |
14/17 |
7-140453929-T-G |
BRAF |
c.1741+58A>C |
- |
IntronicSNV |
- |
14/17 |
7-138546803-T-A |
KIAA1549 |
c.4930-601A>T |
- |
IntronicSNV |
- |
15/19 |
7-138546803-T-C |
KIAA1549 |
c.4930-601A>G |
- |
IntronicSNV |
- |
15/19 |
16-85690006-T-C |
GSE1 |
c.1047T>C |
p.Arg349Arg |
Synonymous |
7/16 |
- |
8-133898719-AGG-CAT |
TG |
c.1102_1104delAGGinsCAT |
p.Arg368His |
Missense |
9/48 |
- |
12-18499636-C-T |
PIK3C2G |
c.1491C>T |
p.Tyr497Tyr |
Synonymous |
11/32 |
- |
7-55241755-G-A |
EGFR |
c.2184+19G>A |
- |
IntronicSNV |
- |
18/27 |
16-2115481-C-T |
TSC2 |
c.1600-39C>T |
- |
IntronicSNV |
- |
15/41 |
9-87383801-T-G |
NTRK2 |
c.1396+16801T>G |
- |
IntronicSNV |
- |
14/14 |
5-67588148-G-A |
PIK3R1 |
c.168G>A |
p.Met56Ile |
Missense |
2/10 |
- |
10-104389932-T-G |
SUFU |
c.*20T>G |
- |
3-UTRSNV |
12/12 |
- |
13-32890572-G-T |
BRCA2 |
c.1-26G>T |
- |
5-UTRSNV |
2/27 |
- |
9-87391099-A-G |
NTRK2 |
c.1396+24099A>G |
- |
IntronicSNV |
- |
14/14 |
9-87385256-A-T |
NTRK2 |
c.1396+18256A>T |
- |
IntronicSNV |
- |
14/14 |
9-87426248-A-G |
NTRK2 |
c.*754A>G |
- |
3-UTRSNV |
15/15 |
- |
11-534197-C-T |
HRAS |
c.111+15G>A |
- |
IntronicSNV |
- |
2/5 |
9-139395311-G-A |
NOTCH1 |
c.5639-12C>T |
- |
IntronicSNV |
- |
30/33 |
9-139395311-G-C |
NOTCH1 |
c.5639-12C>G |
- |
IntronicSNV |
- |
30/33 |
5-67593432-C-T |
PIK3R1 |
c.*3C>T |
- |
3-UTRSNV |
10/10 |
- |
5-67593432-C-A |
PIK3R1 |
c.*3C>A |
- |
3-UTRSNV |
10/10 |
- |
17-41243725-T-C |
BRCA1 |
c.3823A>G |
p.Ile1275Val |
Missense |
10/23 |
- |
9-87372097-G-A |
NTRK2 |
c.1396+5097G>A |
- |
IntronicSNV |
- |
14/14 |
10-123279795-C-T |
FGFR2 |
c.749-112G>A |
- |
IntronicSNV |
- |
6/17 |
9-133760617-C-T |
ABL1 |
c.2997C>T |
p.Pro999Pro |
Synonymous |
11/11 |
- |
19-3114864-C-T |
GNA11 |
c.477-78C>T |
- |
IntronicSNV |
- |
3/6 |
12-57487814-A-T |
NAB2 |
c.1468+433A>T |
- |
IntronicSNV |
- |
6/6 |
9-87402990-T-C |
NTRK2 |
c.1397-22467T>C |
- |
IntronicSNV |
- |
14/14 |
4-1803704-T-C |
FGFR3 |
c.882T>C |
p.Asn294Asn |
Synonymous |
7/18 |
- |
9-133760029-C-G |
ABL1 |
c.2409C>G |
p.Pro803Pro |
Synonymous |
11/11 |
- |
9-87415554-G-C |
NTRK2 |
c.1397-9903G>C |
- |
IntronicSNV |
- |
14/14 |
2-48010558-C-A |
MSH6 |
c.186C>A |
p.Arg62Arg |
Synonymous |
1/10 |
- |
5-149460343-G-A |
CSF1R |
c.294C>T |
p.His98His |
Synonymous |
3/22 |
- |
12-25362777-A-G |
KRAS |
c.*73T>C |
- |
3_prime_UTR_variant |
6/6 |
- |
4-55524168-T-C |
KIT |
c.1-14T>C |
- |
5-UTRSNV |
1/21 |
- |
4-55524168-T-A |
KIT |
c.1-14T>A |
- |
5-UTRSNV |
1/21 |
- |
16-85697059-C-T |
GSE1 |
c.2483C>T |
p.Ser828Leu |
Missense |
11/16 |
- |
5-131972916-A-G |
RAD50 |
c.3475+24A>G |
- |
IntronicSNV |
- |
22/24 |
22-24176339-G-A |
SMARCB1 |
c.1130G>A |
p.Arg377His |
Missense |
9/9 |
- |
12-18443809-C-A |
PIK3C2G |
c.782C>A |
p.Ala261Glu |
Missense |
4/32 |
- |
14-105236557-G-C |
AKT1 |
c.*121C>G |
- |
3-UTRSNV |
14/14 |
- |
12-25362777-A-T |
KRAS |
c.*73T>A |
- |
3_prime_UTR_variant |
6/6 |
- |
2-47637325-C-T |
MSH2 |
c.459C>T |
p.Ser153Ser |
Synonymous |
3/16 |
- |
9-110249505-C-T |
KLF4 |
c.1100-32G>A |
- |
IntronicSNV |
- |
3/4 |
8-134025870-C-G |
TG |
c.6423C>G |
p.Leu2141Leu |
Synonymous |
37/48 |
- |
9-139405181-G-A |
NOTCH1 |
c.2664C>T |
p.His888His |
Synonymous |
17/34 |
- |
7-128846328-G-C |
SMO |
c.1164G>C |
p.Gly388Gly |
Synonymous |
6/12 |
- |
9-21970916-C-T |
CDKN2A |
c.442G>A |
p.Ala148Thr |
Missense |
2/3 |
- |
9-87380673-G-A |
NTRK2 |
c.1396+13673G>A |
- |
IntronicSNV |
- |
14/14 |
9-87388848-G-A |
NTRK2 |
c.1396+21848G>A |
- |
IntronicSNV |
- |
14/14 |
10-131506190-C-T |
MGMT |
c.250C>T |
p.Leu84Phe |
Missense |
3/5 |
- |
17-78078888-GG-AT |
GAA |
c.503_504delGGinsAT |
p.Arg168His |
Missense |
2/20 |
- |
12-49437399-T-G |
KMT2D |
c.5467+19A>C |
- |
IntronicSNV |
- |
23/53 |
3-47162661-A-G |
SETD2 |
c.3465T>C |
p.Asn1155Asn |
Synonymous |
3/21 |
- |
8-134025870-C-T |
TG |
c.6423C>T |
p.Leu2141Leu |
Synonymous |
37/48 |
- |
7-138533444-G-A |
KIAA1549 |
c.5294+3525C>T |
- |
IntronicSNV |
- |
17/19 |
9-87376728-G-A |
NTRK2 |
c.1396+9728G>A |
- |
IntronicSNV |
- |
14/14 |
4-55524304-T-C |
KIT |
c.67+56T>C |
- |
IntronicSNV |
- |
1/20 |
7-128846328-G-T |
SMO |
c.1164G>T |
p.Gly388Gly |
Synonymous |
6/12 |
- |
14-105241378-C-A |
AKT1 |
c.567+35G>T |
- |
IntronicSNV |
- |
6/13 |
9-21970916-C-G |
CDKN2A |
c.442G>C |
p.Ala148Pro |
Missense |
2/3 |
- |
7-140491678-G-A |
BRAF |
c.1140+2430C>T |
- |
IntronicSNV |
- |
8/17 |
12-121432302-T-A |
HNF1A |
c.955+94T>A |
- |
IntronicSNV |
- |
4/9 |
9-87419789-C-G |
NTRK2 |
c.1397-5668C>G |
- |
IntronicSNV |
- |
14/14 |
4-55593919-C-G |
KIT |
c.1775-70C>G |
- |
IntronicSNV |
- |
11/20 |
9-87416027-A-T |
NTRK2 |
c.1397-9430A>T |
- |
IntronicSNV |
- |
14/14 |
9-87408352-C-G |
NTRK2 |
c.1397-17105C>G |
- |
IntronicSNV |
- |
14/14 |
4-72649716-A-C |
GC |
c.20T>G |
p.Leu7Arg |
Missense |
1/13 |
- |
7-116339282-G-A |
MET |
c.144G>A |
p.Ala48Ala |
Synonymous |
2/21 |
- |
12-121437114-G-T |
HNF1A |
c.1545G>T |
p.Thr515Thr |
Synonymous |
8/10 |
- |
13-32913055-A-C |
BRCA2 |
c.4563A>C |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
12-121437114-G-A |
HNF1A |
c.1545G>A |
p.Thr515Thr |
Synonymous |
8/10 |
- |
13-32913055-A-T |
BRCA2 |
c.4563A>T |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
7-138546951-T-C |
KIAA1549 |
c.4930-749A>G |
- |
IntronicSNV |
- |
15/19 |
1-78429408-G-C |
FUBP1 |
c.1042-8C>G |
- |
IntronicSNV |
- |
12/19 |
1-120612034-T-G |
NOTCH2 |
c.1-14A>C |
- |
5-UTRSNV |
1/34 |
- |
1-120612034-T-C |
NOTCH2 |
c.1-14A>G |
- |
5-UTRSNV |
1/34 |
- |
19-17940842-G-A |
JAK3 |
c.3207+75C>T |
- |
IntronicSNV |
- |
23/23 |
9-139400219-G-A |
NOTCH1 |
c.4129C>T |
p.Pro1377Ser |
Missense |
25/34 |
- |
4-55146389-C-T |
PDGFRA |
c.2157-94C>T |
- |
IntronicSNV |
- |
15/22 |
17-29553485-G-C |
NF1 |
c.2034G>C |
p.Pro678Pro |
Synonymous |
18/57 |
- |
9-21968199-C-A |
CDKN2A |
c.*29G>T |
- |
3-UTRSNV |
3/3 |
- |
9-21968199-C-G |
CDKN2A |
c.*29G>C |
- |
3-UTRSNV |
3/3 |
- |
1-45292866-G-C |
PTCH2 |
c.2487C>G |
p.Asp829Glu |
Missense |
16/22 |
- |
17-78078550-T-G |
GAA |
c.165T>G |
p.Ala55Ala |
Synonymous |
2/20 |
- |
2-29543663-T-G |
ALK |
c.1500A>C |
p.Gln500His |
Missense |
7/29 |
- |
6-36168628-A-G |
BRPF3 |
c.529A>G |
p.Ser177Gly |
Missense |
2/13 |
- |
4-72622593-G-T |
GC |
c.870C>A |
p.Ser290Ser |
Synonymous |
8/13 |
- |
8-133880361-G-A |
TG |
c.69G>A |
p.Glu23Glu |
Synonymous |
2/48 |
- |
1-45292866-G-T |
PTCH2 |
c.2487C>A |
p.Asp829Glu |
Missense |
16/22 |
- |
X-39933339-A-T |
BCOR |
c.1260T>A |
p.Asp420Glu |
Missense |
4/15 |
- |
9-87395322-C-T |
NTRK2 |
c.1396+28322C>T |
- |
IntronicSNV |
- |
14/14 |
7-55210187-A-G |
EGFR |
c.240+57A>G |
- |
IntronicSNV |
- |
2/27 |
12-49418435-A-C |
KMT2D |
c.15978T>G |
p.Leu5326Leu |
Synonymous |
50/54 |
- |
9-87409311-C-T |
NTRK2 |
c.1397-16146C>T |
- |
IntronicSNV |
- |
14/14 |
2-29543663-T-C |
ALK |
c.1500A>G |
p.Gln500Gln |
Synonymous |
7/29 |
- |
4-72623855-A-G |
GC |
c.735T>C |
p.Thr245Thr |
Synonymous |
7/13 |
- |
4-1807478-G-C |
FGFR3 |
c.1647G>C |
p.Gly549Gly |
Synonymous |
13/18 |
- |
7-138542482-C-T |
KIAA1549 |
c.5247+3403G>A |
- |
IntronicSNV |
- |
16/19 |
8-133906029-T-A |
TG |
c.2856T>A |
p.Pro952Pro |
Synonymous |
11/48 |
- |
8-133906029-T-C |
TG |
c.2856T>C |
p.Pro952Pro |
Synonymous |
11/48 |
- |
13-28623699-G-T |
FLT3 |
c.883-25C>A |
- |
IntronicSNV |
- |
7/23 |
3-9787527-C-T |
BRPF1 |
c.3237C>T |
p.Gly1079Gly |
Synonymous |
12/14 |
- |
13-48947469-G-T |
RB1 |
c.1128-72G>T |
- |
IntronicSNV |
- |
11/26 |
13-48947469-G-A |
RB1 |
c.1128-72G>A |
- |
IntronicSNV |
- |
11/26 |
13-28623759-C-T |
FLT3 |
c.882+13G>A |
- |
IntronicSNV |
- |
7/23 |
9-87425973-G-A |
NTRK2 |
c.*479G>A |
- |
3-UTRSNV |
15/15 |
- |
3-47168122-G-C |
SETD2 |
c.87+16C>G |
- |
IntronicSNV |
- |
2/20 |
3-47168122-G-A |
SETD2 |
c.87+16C>T |
- |
IntronicSNV |
- |
2/20 |
18-52895418-G-A |
TCF4 |
c.*38C>T |
- |
IntronicSNV |
- |
19/19 |
17-41262549-G-A |
BRCA1 |
c.135-3999C>T |
- |
IntronicSNV |
- |
3/22 |
11-94200962-A-G |
MRE11 |
c.1098+17T>C |
- |
IntronicSNV |
- |
10/19 |
22-30067836-C-T |
NF2 |
c.1021C>T |
p.Arg341* |
Nonsense |
11/16 |
- |
13-28622356-G-A |
FLT3 |
c.1205+56C>T |
- |
IntronicSNV |
- |
9/23 |
1-45296752-C-T |
PTCH2 |
c.618-37G>A |
- |
IntronicSNV |
- |
5/21 |
20-57478846-C-G |
GNAS |
c.432C>G |
p.Pro144Pro |
Synonymous |
5/13 |
- |
12-49442875-G-A |
KMT2D |
c.4020+13C>T |
- |
IntronicSNV |
- |
12/53 |
8-134025870-C-A |
TG |
c.6423C>A |
p.Leu2141Leu |
Synonymous |
37/48 |
- |
7-138530643-C-T |
KIAA1549 |
c.5295-1424G>A |
- |
IntronicSNV |
- |
17/19 |
14-105241378-C-T |
AKT1 |
c.567+35G>A |
- |
IntronicSNV |
- |
6/13 |
X-9476990-A-T |
TBL1X |
c.-131+7101A>T |
- |
intron_variant |
- |
2/17 |
9-87404815-G-A |
NTRK2 |
c.1397-20642G>A |
- |
IntronicSNV |
- |
14/14 |
17-78090902-G-C |
GAA |
c.2325G>C |
p.Leu775Leu |
Synonymous |
16/20 |
- |
17-78090902-G-A |
GAA |
c.2325G>A |
p.Leu775Leu |
Synonymous |
16/20 |
- |
16-85690786-G-C |
GSE1 |
c.1313-97G>C |
- |
IntronicSNV |
- |
7/15 |
9-87423279-T-A |
NTRK2 |
c.1397-2178T>A |
- |
IntronicSNV |
- |
14/14 |
19-17955003-C-T |
JAK3 |
c.184+40G>A |
- |
IntronicSNV |
- |
2/23 |
7-138529980-T-TT |
KIAA1549 |
c.5295-760_5295-760dup |
- |
IntronicInsertion |
- |
17/19 |
9-87395810-A-G |
NTRK2 |
c.1396+28810A>G |
- |
IntronicSNV |
- |
14/14 |
7-138530289-G-A |
KIAA1549 |
c.5295-1070C>T |
- |
IntronicSNV |
- |
17/19 |
9-87370869-C-T |
NTRK2 |
c.1396+3869C>T |
- |
IntronicSNV |
- |
14/14 |
8-38272542-C-G |
FGFR1 |
c.1849-123G>C |
- |
IntronicSNV |
- |
13/17 |
9-21970916-C-A |
CDKN2A |
c.442G>T |
p.Ala148Ser |
Missense |
2/3 |
- |
9-87407766-T-C |
NTRK2 |
c.1397-17691T>C |
- |
IntronicSNV |
- |
14/14 |
9-87361267-T-C |
NTRK2 |
c.1296+1279T>C |
- |
IntronicSNV |
- |
13/14 |
6-26045929-T-C |
HIST1H3C |
c.291T>C |
p.Cys97Cys |
Synonymous |
1/1 |
- |
17-78090902-G-T |
GAA |
c.2325G>T |
p.Leu775Leu |
Synonymous |
16/20 |
- |
7-55248926-T-C |
EGFR |
c.2284-60T>C |
- |
IntronicSNV |
- |
19/27 |
5-149456811-G-A |
CSF1R |
c.889+28C>T |
- |
IntronicSNV |
- |
6/21 |
2-29416572-T-C |
ALK |
c.4381A>G |
p.Ile1461Val |
Missense |
29/29 |
- |
13-28589495-C-G |
FLT3 |
c.2654-102G>C |
- |
IntronicSNV |
- |
21/23 |
9-87422234-T-C |
NTRK2 |
c.1397-3223T>C |
- |
IntronicSNV |
- |
14/14 |
6-157405761-G-A |
ARID1B |
c.2038-35G>A |
- |
IntronicSNV |
- |
5/19 |
22-24167513-G-A |
SMARCB1 |
c.897G>A |
p.Ser299Ser |
Synonymous |
7/9 |
- |
9-87430491-T-C |
NTRK2 |
c.*4997T>C |
- |
3-UTRSNV |
15/15 |
- |
7-138530782-A-G |
KIAA1549 |
c.5295-1563T>C |
- |
IntronicSNV |
- |
17/19 |
11-108180917-T-G |
ATM |
c.5793T>G |
p.Ala1931Ala |
Synonymous |
39/63 |
- |
2-158637138-A-G |
ACVR1 |
c.68-26T>C |
- |
IntronicSNV |
- |
3/10 |
7-55214443-G-A |
EGFR |
c.559+10G>A |
- |
IntronicSNV |
- |
4/27 |
16-71609883-G-T |
TAT |
c.282C>A |
p.Thr94Thr |
Synonymous |
3/12 |
- |
4-72618337-A-T |
GC |
c.1293T>A |
p.Pro431Pro |
Synonymous |
11/13 |
- |
4-55138648-T-C |
PDGFRA |
c.1325T>C |
p.Leu442Pro |
Missense |
9/23 |
- |
1-78433801-T-G |
FUBP1 |
c.250+48A>C |
- |
IntronicSNV |
- |
3/19 |
7-140493460-C-A |
BRAF |
c.1140+648G>T |
- |
IntronicSNV |
- |
8/17 |
12-46244372-C-T |
ARID2 |
c.2466C>T |
p.Ile822Ile |
Synonymous |
15/21 |
- |
1-120484421-G-A |
NOTCH2 |
c.2753-44C>T |
- |
IntronicSNV |
- |
17/33 |
17-78078775-A-G |
GAA |
c.390A>G |
p.Pro130Pro |
Synonymous |
2/20 |
- |
17-78078775-A-T |
GAA |
c.390A>T |
p.Pro130Pro |
Synonymous |
2/20 |
- |
9-87398796-T-G |
NTRK2 |
c.1397-26661T>G |
- |
IntronicSNV |
- |
14/14 |
9-87398796-T-C |
NTRK2 |
c.1397-26661T>C |
- |
IntronicSNV |
- |
14/14 |
4-72618337-A-G |
GC |
c.1293T>C |
p.Pro431Pro |
Synonymous |
11/13 |
- |
4-72618337-A-C |
GC |
c.1293T>G |
p.Pro431Pro |
Synonymous |
11/13 |
- |
10-103868957-A-G |
LDB1 |
c.857-23T>C |
- |
IntronicSNV |
- |
9/10 |
14-105236557-G-A |
AKT1 |
c.*121C>T |
- |
3-UTRSNV |
14/14 |
- |
19-11113997-G-A |
SMARCA4 |
c.1944-19G>A |
- |
IntronicSNV |
- |
12/34 |
7-138534835-T-C |
KIAA1549 |
c.5294+2134A>G |
- |
IntronicSNV |
- |
17/19 |
9-87376774-A-G |
NTRK2 |
c.1396+9774A>G |
- |
IntronicSNV |
- |
14/14 |
5-131911535-A-C |
RAD50 |
c.280A>C |
p.Ile94Leu |
Missense |
3/25 |
- |
8-133900638-C-T |
TG |
c.2586C>T |
p.Leu862Leu |
Synonymous |
10/48 |
- |
12-57492745-G-A |
STAT6 |
c.1955+53C>T |
- |
IntronicSNV |
- |
17/21 |
8-133900638-C-A |
TG |
c.2586C>A |
p.Leu862Leu |
Synonymous |
10/48 |
- |
8-133900638-C-G |
TG |
c.2586C>G |
p.Leu862Leu |
Synonymous |
10/48 |
- |
9-87409311-C-G |
NTRK2 |
c.1397-16146C>G |
- |
IntronicSNV |
- |
14/14 |
19-40761212-G-A |
AKT2 |
c.176-36C>T |
- |
IntronicSNV |
- |
3/13 |
17-78085792-G-T |
GAA |
c.1647G>T |
p.Gly549Gly |
Synonymous |
12/20 |
- |
17-78085792-G-C |
GAA |
c.1647G>C |
p.Gly549Gly |
Synonymous |
12/20 |
- |
18-52895531-T-C |
TCF4 |
c.1929A>G |
p.Ser643Ser |
Synonymous |
19/20 |
- |
13-32913055-A-G |
BRCA2 |
c.4563A>G |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
7-138533930-T-A |
KIAA1549 |
c.5294+3039A>T |
- |
IntronicSNV |
- |
17/19 |
8-133899342-A-C |
TG |
c.1725A>C |
p.Pro575Pro |
Synonymous |
9/48 |
- |
16-71602662-G-A |
TAT |
c.1176C>T |
p.Phe392Phe |
Synonymous |
11/12 |
- |
16-85704584-A-G |
GSE1 |
c.3416-17A>G |
- |
IntronicSNV |
- |
14/15 |
17-78082498-C-T |
GAA |
c.1197C>T |
p.Asp399Asp |
Synonymous |
8/20 |
- |
10-103869282-G-A |
LDB1 |
c.733-18C>T |
- |
IntronicSNV |
- |
8/10 |
9-87373318-A-G |
NTRK2 |
c.1396+6318A>G |
- |
IntronicSNV |
- |
14/14 |
8-133899342-A-T |
TG |
c.1725A>T |
p.Pro575Pro |
Synonymous |
9/48 |
- |
8-133899342-A-G |
TG |
c.1725A>G |
p.Pro575Pro |
Synonymous |
9/48 |
- |
11-108143456-C-A |
ATM |
c.3161C>A |
p.Pro1054His |
Missense |
22/63 |
- |
2-242690770-T-C |
D2HGDH |
c.1107T>C |
p.Asp369Asp |
Synonymous |
8/10 |
- |
11-108143456-C-G |
ATM |
c.3161C>G |
p.Pro1054Arg |
Missense |
22/63 |
- |
2-242674959-T-G |
D2HGDH |
c.292+28T>G |
- |
IntronicSNV |
- |
2/9 |
2-47693959-G-T |
MSH2 |
c.1661+12G>T |
- |
IntronicSNV |
- |
10/15 |
18-48577782-G-C |
SMAD4 |
c.454+2088G>C |
- |
IntronicSNV |
- |
4/11 |
7-55249063-G-C |
EGFR |
c.2361G>C |
p.Gln787His |
Missense |
20/28 |
- |
8-133945889-A-G |
TG |
c.4900A>G |
p.Ser1634Gly |
Missense |
24/48 |
- |
13-32929387-T-C |
BRCA2 |
c.7397T>C |
p.Val2466Ala |
Missense |
14/27 |
- |
2-162274847-G-C |
TBR1 |
c.969+14G>C |
- |
IntronicSNV |
- |
3/5 |
9-87409862-T-C |
NTRK2 |
c.1397-15595T>C |
- |
IntronicSNV |
- |
14/14 |
16-68863752-G-A |
CDH1 |
c.2439+52G>A |
- |
IntronicSNV |
- |
15/15 |
9-87408978-C-T |
NTRK2 |
c.1397-16479C>T |
- |
IntronicSNV |
- |
14/14 |
7-128846469-A-G |
SMO |
c.1264+41A>G |
- |
IntronicSNV |
- |
6/11 |
7-148510993-A-G |
EZH2 |
c.1851+58T>C |
- |
IntronicSNV |
- |
15/19 |
5-146648326-C-A |
STK32A |
c.53-9361C>A |
- |
IntronicSNV |
- |
2/6 |
8-133898697-A-G |
TG |
c.1080A>G |
p.Glu360Glu |
Synonymous |
9/48 |
- |
13-28624294-G-A |
FLT3 |
c.680C>T |
p.Thr227Met |
Missense |
6/24 |
- |
9-139413908-C-A |
NOTCH1 |
c.852G>T |
p.Pro284Pro |
Synonymous |
5/34 |
- |
9-139413908-C-T |
NOTCH1 |
c.852G>A |
p.Pro284Pro |
Synonymous |
5/34 |
- |
9-139413908-C-G |
NOTCH1 |
c.852G>C |
p.Pro284Pro |
Synonymous |
5/34 |
- |
4-55140031-T-G |
PDGFRA |
c.1558+134T>G |
- |
IntronicSNV |
- |
10/22 |
16-71610202-GG-AG |
TAT |
c.116_117delCCinsAG |
p.Ala39Glu |
Missense |
2/12 |
- |
7-128846207-G-A |
SMO |
c.1137G>A |
p.Ala379Ala |
Synonymous |
5/12 |
- |
4-55161254-C-T |
PDGFRA |
c.3123-38C>T |
- |
IntronicSNV |
- |
22/22 |
1-120611715-A-G |
NOTCH2 |
c.73+233T>C |
- |
IntronicSNV |
- |
1/33 |
4-72629133-T-A |
GC |
c.693A>T |
p.Ser231Ser |
Synonymous |
6/13 |
- |
4-72629133-T-C |
GC |
c.693A>G |
p.Ser231Ser |
Synonymous |
6/13 |
- |
4-72629133-T-G |
GC |
c.693A>C |
p.Ser231Ser |
Synonymous |
6/13 |
- |
17-78086398-G-A |
GAA |
c.1776G>A |
p.Gly592Gly |
Synonymous |
13/20 |
- |
8-133899688-GGA-AGC |
TG |
c.2071_2073delGGAinsAGC |
p.Gly691Ser |
Missense |
9/48 |
- |
1-120458924-G-A |
NOTCH2 |
c.6421C>T |
p.Leu2141Leu |
Synonymous |
34/34 |
- |
1-120611715-A-C |
NOTCH2 |
c.73+233T>G |
- |
IntronicSNV |
- |
1/33 |
10-123243197-G-A |
FGFR2 |
c.2301+15C>T |
- |
IntronicSNV |
- |
17/17 |
9-87413046-G-C |
NTRK2 |
c.1397-12411G>C |
- |
IntronicSNV |
- |
14/14 |
19-3119406-G-T |
GNA11 |
c.889+49G>T |
- |
IntronicSNV |
- |
6/6 |
12-57486033-A-C |
NAB2 |
c.958-198A>C |
- |
IntronicSNV |
- |
2/6 |
12-57486033-A-T |
NAB2 |
c.958-198A>T |
- |
IntronicSNV |
- |
2/6 |
16-71604659-C-T |
TAT |
c.835G>A |
p.Ala279Thr |
Missense |
8/12 |
- |
5-112176559-T-A |
APC |
c.5268T>A |
p.Ser1756Ser |
Synonymous |
16/16 |
- |
1-120611830-G-T |
NOTCH2 |
c.73+118C>A |
- |
IntronicSNV |
- |
1/33 |
5-112162854-T-C |
APC |
c.1458T>C |
p.Tyr486Tyr |
Synonymous |
12/16 |
- |
17-41234470-A-G |
BRCA1 |
c.4308T>C |
p.Ser1436Ser |
Synonymous |
12/23 |
- |
19-11145825-C-T |
SMARCA4 |
c.4170+17C>T |
- |
IntronicSNV |
- |
29/34 |
19-11145825-C-A |
SMARCA4 |
c.4170+17C>A |
- |
IntronicSNV |
- |
29/34 |
9-139405093-G-T |
NOTCH1 |
c.2740+12C>A |
- |
IntronicSNV |
- |
17/33 |
9-87395111-C-G |
NTRK2 |
c.1396+28111C>G |
- |
IntronicSNV |
- |
14/14 |
22-30038152-A-C |
NF2 |
c.364-39A>C |
- |
IntronicSNV |
- |
3/15 |
4-55133726-T-G |
PDGFRA |
c.939T>G |
p.Gly313Gly |
Synonymous |
7/23 |
- |
5-149435608-G-C |
CSF1R |
c.2535C>G |
p.Leu845Leu |
Synonymous |
19/22 |
- |
9-87368417-G-A |
NTRK2 |
c.1396+1417G>A |
- |
IntronicSNV |
- |
14/14 |
10-104264107-C-T |
SUFU |
c.182+16C>T |
- |
IntronicSNV |
- |
1/11 |
7-128852021-C-T |
SMO |
c.2093C>T |
p.Pro698Leu |
Missense |
12/12 |
- |
10-104264107-C-G |
SUFU |
c.182+16C>G |
- |
IntronicSNV |
- |
1/11 |
7-128852021-C-G |
SMO |
c.2093C>G |
p.Pro698Arg |
Missense |
12/12 |
- |
6-108882830-C-T |
FOXO3 |
c.419C>T |
p.Ala140Val |
Missense |
1/3 |
- |
4-55961159-T-C |
KDR |
c.2818-37A>G |
- |
IntronicSNV |
- |
20/29 |
9-87398104-G-A |
NTRK2 |
c.1397-27353G>A |
- |
IntronicSNV |
- |
14/14 |
22-21346719-A-C |
LZTR1 |
c.1149+61A>C |
- |
IntronicSNV |
- |
10/20 |
5-149433857-C-G |
CSF1R |
c.2763+28G>C |
- |
IntronicSNV |
- |
21/21 |
8-133899309-C-A |
TG |
c.1692C>A |
p.Ala564Ala |
Synonymous |
9/48 |
- |
17-78081473-C-T |
GAA |
c.810C>T |
p.Ser270Ser |
Synonymous |
4/20 |
- |
19-17943383-G-A |
JAK3 |
c.2625C>T |
p.Leu875Leu |
Synonymous |
19/24 |
- |
10-104356822-A-T |
SUFU |
c.757-75A>T |
- |
IntronicSNV |
- |
6/11 |
10-104356822-A-G |
SUFU |
c.757-75A>G |
- |
IntronicSNV |
- |
6/11 |
12-18649057-C-T |
PIK3C2G |
c.2732C>T |
p.Pro911Leu |
Missense |
20/32 |
- |
9-2073292-A-G |
SMARCA2 |
c.1827A>G |
p.Pro609Pro |
Synonymous |
11/34 |
- |
2-48027520-G-A |
MSH6 |
c.2398G>A |
p.Val800Ile |
Missense |
4/10 |
- |
7-138540621-T-TT |
KIAA1549 |
c.5248-3606_5248-3606dup |
- |
IntronicInsertion |
- |
16/19 |
X-123171448-T-C |
STAG2 |
c.360T>C |
p.Phe120Phe |
Synonymous |
5/33 |
- |
7-138551986-G-C |
KIAA1549 |
c.4929+735C>G |
- |
IntronicSNV |
- |
15/19 |
9-2073708-G-T |
SMARCA2 |
c.1935+85G>T |
- |
IntronicSNV |
- |
12/33 |
7-140476936-G-A |
BRAF |
c.1518-48C>T |
- |
IntronicSNV |
- |
12/17 |
11-108180917-T-C |
ATM |
c.5793T>C |
p.Ala1931Ala |
Synonymous |
39/63 |
- |
9-87413890-C-G |
NTRK2 |
c.1397-11567C>G |
- |
IntronicSNV |
- |
14/14 |
9-87413890-C-A |
NTRK2 |
c.1397-11567C>A |
- |
IntronicSNV |
- |
14/14 |
9-87426298-A-T |
NTRK2 |
c.*804A>T |
- |
3-UTRSNV |
15/15 |
- |
10-104359350-T-G |
SUFU |
c.1022+49T>G |
- |
IntronicSNV |
- |
8/11 |
9-87409314-G-A |
NTRK2 |
c.1397-16143G>A |
- |
IntronicSNV |
- |
14/14 |
17-78078550-T-C |
GAA |
c.165T>C |
p.Ala55Ala |
Synonymous |
2/20 |
- |
7-138534445-C-A |
KIAA1549 |
c.5294+2524G>T |
- |
IntronicSNV |
- |
17/19 |
5-161119071-G-T |
GABRA6 |
c.951G>T |
p.Ala317Ala |
Synonymous |
8/9 |
- |
10-104359350-T-C |
SUFU |
c.1022+49T>C |
- |
IntronicSNV |
- |
8/11 |
14-95556747-A-T |
DICER1 |
c.*88T>A |
- |
3-UTRSNV |
29/29 |
- |
13-28602292-T-C |
FLT3 |
c.2053+23A>G |
- |
IntronicSNV |
- |
16/23 |
10-43615094-C-T |
RET |
c.2508C>T |
p.Ser836Ser |
Synonymous |
14/20 |
- |
9-87426298-A-G |
NTRK2 |
c.*804A>G |
- |
3-UTRSNV |
15/15 |
- |
7-140483605-C-T |
BRAF |
c.1178-648G>A |
- |
IntronicSNV |
- |
9/17 |
9-87414230-T-A |
NTRK2 |
c.1397-11227T>A |
- |
IntronicSNV |
- |
14/14 |
12-49427789-C-T |
KMT2D |
c.10741-42G>A |
- |
IntronicSNV |
- |
38/53 |
16-2138398-C-T |
TSC2 |
c.5260-49C>T |
- |
IntronicSNV |
- |
41/41 |
9-22006273-G-A |
CDKN2B |
c.157-27C>T |
- |
IntronicSNV |
- |
1/1 |
9-22006273-G-C |
CDKN2B |
c.157-27C>G |
- |
IntronicSNV |
- |
1/1 |
1-27100243-C-T |
ARID1A |
c.4004+35C>T |
- |
IntronicSNV |
- |
16/19 |
12-121437221-T-C |
HNF1A |
c.1623+29T>C |
- |
IntronicSNV |
- |
8/9 |
17-29553485-G-A |
NF1 |
c.2034G>A |
p.Pro678Pro |
Synonymous |
18/57 |
- |
19-3119405-T-C |
GNA11 |
c.889+48T>C |
- |
IntronicSNV |
- |
6/6 |
8-39873053-G-A |
IDO2 |
c.1195G>A |
p.Ala399Thr |
Missense |
11/11 |
- |
10-104387019-T-C |
SUFU |
c.1365+19T>C |
- |
IntronicSNV |
- |
11/11 |
9-98231008-A-G |
PTCH1 |
c.2250+25T>C |
- |
IntronicSNV |
- |
14/23 |
13-32890572-G-A |
BRCA2 |
c.1-26G>A |
- |
5-UTRSNV |
2/27 |
- |
9-139405154-G-A |
NOTCH1 |
c.2691C>T |
p.Ala897Ala |
Synonymous |
17/34 |
- |
16-2112516-C-T |
TSC2 |
c.1276C>T |
p.Leu426Leu |
Synonymous |
13/42 |
- |
9-87420423-C-A |
NTRK2 |
c.1397-5034C>A |
- |
IntronicSNV |
- |
14/14 |
4-55133959-C-T |
PDGFRA |
c.1121+51C>T |
- |
IntronicSNV |
- |
7/22 |
2-29462520-G-A |
ALK |
c.2355+26C>T |
- |
IntronicSNV |
- |
13/28 |
2-29462520-G-T |
ALK |
c.2355+26C>A |
- |
IntronicSNV |
- |
13/28 |
6-157405930-G-A |
ARID1B |
c.2172G>A |
p.Ala724Ala |
Synonymous |
6/20 |
- |
6-157405930-G-T |
ARID1B |
c.2172G>T |
p.Ala724Ala |
Synonymous |
6/20 |
- |
5-149456771-C-A |
CSF1R |
c.889+68G>T |
- |
IntronicSNV |
- |
6/21 |
16-2112516-C-G |
TSC2 |
c.1276C>G |
p.Leu426Val |
Missense |
13/42 |
- |
9-87420423-C-T |
NTRK2 |
c.1397-5034C>T |
- |
IntronicSNV |
- |
14/14 |
9-87384733-G-A |
NTRK2 |
c.1396+17733G>A |
- |
IntronicSNV |
- |
14/14 |
9-87384733-G-C |
NTRK2 |
c.1396+17733G>C |
- |
IntronicSNV |
- |
14/14 |
9-87420686-C-A |
NTRK2 |
c.1397-4771C>A |
- |
IntronicSNV |
- |
14/14 |
6-26045929-T-G |
HIST1H3C |
c.291T>G |
p.Cys97Trp |
Missense |
1/1 |
- |
7-128846398-C-T |
SMO |
c.1234C>T |
p.Leu412Phe |
Missense |
6/12 |
- |
10-98639097-T-C |
LCOR |
c.-329-27925T>C |
- |
intron_variant |
- |
2/7 |
5-112116632-C-T |
APC |
c.645+32C>T |
- |
IntronicSNV |
- |
6/15 |
10-123298158-T-A |
FGFR2 |
c.696A>T |
p.Val232Val |
Synonymous |
6/18 |
- |
10-123298158-T-C |
FGFR2 |
c.696A>G |
p.Val232Val |
Synonymous |
6/18 |
- |
4-72622548-G-A |
GC |
c.915C>T |
p.Ala305Ala |
Synonymous |
8/13 |
- |
9-110249348-T-G |
KLF4 |
c.1225A>C |
p.Lys409Gln |
Missense |
4/5 |
- |
4-72622548-G-T |
GC |
c.915C>A |
p.Ala305Ala |
Synonymous |
8/13 |
- |
19-11145825-C-G |
SMARCA4 |
c.4170+17C>G |
- |
IntronicSNV |
- |
29/34 |
9-87358664-T-C |
NTRK2 |
c.1196-1224T>C |
- |
IntronicSNV |
- |
12/14 |
19-11113651-T-C |
SMARCA4 |
c.1813-54T>C |
- |
IntronicSNV |
- |
11/34 |
18-48577782-G-A |
SMAD4 |
c.454+2088G>A |
- |
IntronicSNV |
- |
4/11 |
7-55240882-G-A |
EGFR |
c.2061+65G>A |
- |
IntronicSNV |
- |
17/27 |
7-55268916-C-T |
EGFR |
c.2982C>T |
p.Asp994Asp |
Synonymous |
25/28 |
- |
17-78078625-CA-C |
GAA |
c.240delA |
p.Gln81Serfs*61 |
Frameshift |
2/20 |
- |
16-68857289-T-C |
CDH1 |
c.1937-13T>C |
- |
IntronicSNV |
- |
12/15 |
2-242674803-G-C |
D2HGDH |
c.164G>C |
p.Arg55Pro |
Missense |
2/10 |
- |
2-242674803-G-A |
D2HGDH |
c.164G>A |
p.Arg55Gln |
Missense |
2/10 |
- |
9-87391128-G-T |
NTRK2 |
c.1396+24128G>T |
- |
IntronicSNV |
- |
14/14 |
16-2110805-G-A |
TSC2 |
c.1110G>A |
p.Gln370Gln |
Synonymous |
11/42 |
- |
20-57484363-G-T |
GNAS |
c.586-42G>T |
- |
IntronicSNV |
- |
7/12 |
9-87360720-G-T |
NTRK2 |
c.1296+732G>T |
- |
IntronicSNV |
- |
13/14 |
19-3119405-T-A |
GNA11 |
c.889+48T>A |
- |
IntronicSNV |
- |
6/6 |
5-131915213-G-A |
RAD50 |
c.551+19G>A |
- |
IntronicSNV |
- |
4/24 |
10-43610119-G-C |
RET |
c.2071G>C |
p.Gly691Arg |
Missense |
11/20 |
- |
5-35000312-T-G |
AGXT2 |
c.1438-1381A>C |
- |
IntronicSNV |
- |
13/13 |
5-35000312-T-C |
AGXT2 |
c.1438-1381A>G |
- |
IntronicSNV |
- |
13/13 |
11-108175462-G-A |
ATM |
c.5557G>A |
p.Asp1853Asn |
Missense |
37/63 |
- |
9-87391128-G-C |
NTRK2 |
c.1396+24128G>C |
- |
IntronicSNV |
- |
14/14 |
4-55125058-A-T |
PDGFRA |
c.49+74A>T |
- |
IntronicSNV |
- |
2/22 |
6-33288271-A-G |
DAXX |
c.1137T>C |
p.Tyr379Tyr |
Synonymous |
4/8 |
- |
7-55233089-C-A |
EGFR |
c.1839C>A |
p.Ala613Ala |
Synonymous |
15/28 |
- |
7-140487202-C-A |
BRAF |
c.1177+146G>T |
- |
IntronicSNV |
- |
9/17 |
7-140487202-C-T |
BRAF |
c.1177+146G>A |
- |
IntronicSNV |
- |
9/17 |
9-2029199-G-A |
SMARCA2 |
c.177G>A |
p.Thr59Thr |
Synonymous |
2/34 |
- |
7-148525904-C-G |
EZH2 |
c.553G>C |
p.Asp185His |
Missense |
6/20 |
- |
7-55238941-G-C |
EGFR |
c.1919+35G>C |
- |
IntronicSNV |
- |
16/27 |
7-55238941-G-A |
EGFR |
c.1919+35G>A |
- |
IntronicSNV |
- |
16/27 |
10-43610119-G-A |
RET |
c.2071G>A |
p.Gly691Ser |
Missense |
11/20 |
- |
17-78090882-T-C |
GAA |
c.2305T>C |
p.Leu769Leu |
Synonymous |
16/20 |
- |
17-78081635-CC-C |
GAA |
c.895delC |
p.Leu299Trpfs*15 |
Frameshift |
5/20 |
- |
13-32912299-T-G |
BRCA2 |
c.3807T>G |
p.Val1269Val |
Synonymous |
11/27 |
- |
13-32912299-T-C |
BRCA2 |
c.3807T>C |
p.Val1269Val |
Synonymous |
11/27 |
- |
17-41244435-T-G |
BRCA1 |
c.3113A>C |
p.Glu1038Ala |
Missense |
10/23 |
- |
4-72622593-G-C |
GC |
c.870C>G |
p.Ser290Ser |
Synonymous |
8/13 |
- |
3-47162661-A-T |
SETD2 |
c.3465T>A |
p.Asn1155Lys |
Missense |
3/21 |
- |
9-87404026-A-G |
NTRK2 |
c.1397-21431A>G |
- |
IntronicSNV |
- |
14/14 |
16-71602640-TG-T |
TAT |
c.1198delC |
p.Gln400Serfs*26 |
Frameshift |
11/12 |
- |
8-133906135-C-T |
TG |
c.2962C>T |
p.Arg988Cys |
Missense |
11/48 |
- |
13-28589267-C-T |
FLT3 |
c.2753+27G>A |
- |
IntronicSNV |
- |
22/23 |
2-29449819-C-T |
ALK |
c.3036G>A |
p.Thr1012Thr |
Synonymous |
18/29 |
- |
7-138550994-G-A |
KIAA1549 |
c.4929+1727C>T |
- |
IntronicSNV |
- |
15/19 |
X-44938563-G-A |
KDM6A |
c.3111G>A |
p.Gln1037Gln |
Synonymous |
20/29 |
- |
11-108236264-C-G |
ATM |
c.*29C>G |
- |
3-UTRSNV |
63/63 |
- |
9-87426054-G-A |
NTRK2 |
c.*560G>A |
- |
3-UTRSNV |
15/15 |
- |
17-41223094-T-A |
BRCA1 |
c.4837A>T |
p.Ser1613Cys |
Missense |
15/23 |
- |
17-41223094-T-C |
BRCA1 |
c.4837A>G |
p.Ser1613Gly |
Missense |
15/23 |
- |
9-87359443-C-T |
NTRK2 |
c.1196-445C>T |
- |
IntronicSNV |
- |
12/14 |
17-41246481-T-C |
BRCA1 |
c.1067A>G |
p.Gln356Arg |
Missense |
10/23 |
- |
17-29654876-T-A |
NF1 |
c.5546+19T>A |
- |
IntronicSNV |
- |
37/56 |
9-87369568-G-A |
NTRK2 |
c.1396+2568G>A |
- |
IntronicSNV |
- |
14/14 |
19-3110349-T-A |
GNA11 |
c.321+18T>A |
- |
IntronicSNV |
- |
2/6 |
19-3110349-T-G |
GNA11 |
c.321+18T>G |
- |
IntronicSNV |
- |
2/6 |
9-87393013-C-T |
NTRK2 |
c.1396+26013C>T |
- |
IntronicSNV |
- |
14/14 |
8-133961055-T-C |
TG |
c.5268T>C |
p.Ser1756Ser |
Synonymous |
27/48 |
- |
4-72623855-A-T |
GC |
c.735T>A |
p.Thr245Thr |
Synonymous |
7/13 |
- |
7-116335811-A-T |
MET |
c.1-3328A>T |
- |
IntronicSNV |
- |
1/20 |
17-41215385-T-C |
BRCA1 |
c.5158A>G |
p.Thr1720Ala |
Missense |
18/23 |
- |
9-87399837-A-G |
NTRK2 |
c.1397-25620A>G |
- |
IntronicSNV |
- |
14/14 |
4-72649687-A-G |
GC |
c.49T>C |
p.Leu17Leu |
Synonymous |
1/13 |
- |
1-45292866-G-A |
PTCH2 |
c.2487C>T |
p.Asp829Asp |
Synonymous |
16/22 |
- |
9-87405888-C-T |
NTRK2 |
c.1397-19569C>T |
- |
IntronicSNV |
- |
14/14 |
7-138550994-G-C |
KIAA1549 |
c.4929+1727C>G |
- |
IntronicSNV |
- |
15/19 |
5-131951692-T-C |
RAD50 |
c.3037-3T>C |
- |
IntronicSNV |
- |
19/24 |
9-87416185-G-T |
NTRK2 |
c.1397-9272G>T |
- |
IntronicSNV |
- |
14/14 |
12-121435342-C-T |
HNF1A |
c.1375C>T |
p.Leu459Leu |
Synonymous |
7/10 |
- |
12-49424616-G-A |
KMT2D |
c.13671+60C>T |
- |
IntronicSNV |
- |
40/53 |
7-116435768-C-T |
MET |
c.3858C>T |
p.Asp1286Asp |
Synonymous |
20/21 |
- |
22-30057302-C-T |
NF2 |
c.784C>T |
p.Arg262* |
Nonsense |
8/16 |
- |
7-148508833-A-T |
EZH2 |
c.1852-21T>A |
- |
IntronicSNV |
- |
15/19 |
7-148508833-A-C |
EZH2 |
c.1852-21T>G |
- |
IntronicSNV |
- |
15/19 |
16-2138269-T-C |
TSC2 |
c.5202T>C |
p.Asp1734Asp |
Synonymous |
41/42 |
- |
19-17955021-G-A |
JAK3 |
c.184+22C>T |
- |
IntronicSNV |
- |
2/23 |
9-135782221-T-C |
TSC1 |
c.1335A>G |
p.Glu445Glu |
Synonymous |
14/23 |
- |
4-1801511-C-A |
FGFR3 |
c.417C>A |
p.Asp139Glu |
Missense |
4/18 |
- |
16-2105400-C-T |
TSC2 |
c.482-3C>T |
- |
IntronicSNV |
- |
5/41 |
19-3119405-T-G |
GNA11 |
c.889+48T>G |
- |
IntronicSNV |
- |
6/6 |
13-32914236-C-T |
BRCA2 |
c.5744C>T |
p.Thr1915Met |
Missense |
11/27 |
- |
1-204501383-C-T |
MDM4 |
c.343+9C>T |
- |
IntronicSNV |
- |
5/10 |
4-1807478-G-T |
FGFR3 |
c.1647G>T |
p.Gly549Gly |
Synonymous |
13/18 |
- |
10-43620335-C-T |
RET |
c.2944C>T |
p.Arg982Cys |
Missense |
18/20 |
- |
8-133906029-T-G |
TG |
c.2856T>G |
p.Pro952Pro |
Synonymous |
11/48 |
- |
9-87371365-G-T |
NTRK2 |
c.1396+4365G>T |
- |
IntronicSNV |
- |
14/14 |
1-45307506-G-A |
PTCH2 |
c.265+13C>T |
- |
IntronicSNV |
- |
2/21 |
9-2170607-G-A |
SMARCA2 |
c.4253+135G>A |
- |
IntronicSNV |
- |
29/33 |
11-63531094-C-T |
C11orf95 |
c.1833G>A |
p.Thr611Thr |
Synonymous |
5/5 |
- |
1-120460916-A-C |
NOTCH2 |
c.5929+113T>G |
- |
IntronicSNV |
- |
32/33 |
1-120611830-G-A |
NOTCH2 |
c.73+118C>T |
- |
IntronicSNV |
- |
1/33 |
8-133894159-G-A |
TG |
c.690G>A |
p.Glu230Glu |
Synonymous |
6/48 |
- |
2-29940529-A-T |
ALK |
c.702T>A |
p.Pro234Pro |
Synonymous |
2/29 |
- |
8-133900299-C-T |
TG |
c.2247C>T |
p.Ser749Ser |
Synonymous |
10/48 |
- |
16-2136842-C-G |
TSC2 |
c.4959C>G |
p.Ser1653Ser |
Synonymous |
38/42 |
- |
16-2136842-C-A |
TSC2 |
c.4959C>A |
p.Ser1653Ser |
Synonymous |
38/42 |
- |
9-98215968-C-G |
PTCH1 |
c.3307-66G>C |
- |
IntronicSNV |
- |
19/23 |
17-41245471-C-A |
BRCA1 |
c.2077G>T |
p.Asp693Tyr |
Missense |
10/23 |
- |
14-105239146-C-G |
AKT1 |
c.1172+69G>C |
- |
IntronicSNV |
- |
11/13 |
8-133900299-C-A |
TG |
c.2247C>A |
p.Ser749Ser |
Synonymous |
10/48 |
- |
8-133900299-C-G |
TG |
c.2247C>G |
p.Ser749Ser |
Synonymous |
10/48 |
- |
7-116340262-A-G |
MET |
c.1124A>G |
p.Asn375Ser |
Missense |
2/21 |
- |
4-55130078-T-C |
PDGFRA |
c.612T>C |
p.Asn204Asn |
Synonymous |
4/23 |
- |
9-139405093-G-A |
NOTCH1 |
c.2740+12C>T |
- |
IntronicSNV |
- |
17/33 |
16-2136842-C-T |
TSC2 |
c.4959C>T |
p.Ser1653Ser |
Synonymous |
38/42 |
- |
3-37050254-T-C |
MLH1 |
c.454-51T>C |
- |
IntronicSNV |
- |
5/18 |
11-63531094-C-G |
C11orf95 |
c.1833G>C |
p.Thr611Thr |
Synonymous |
5/5 |
- |
12-49445028-G-A |
KMT2D |
c.2438C>T |
p.Pro813Leu |
Missense |
10/54 |
- |
17-78092018-C-G |
GAA |
c.2508C>G |
p.Ser836Ser |
Synonymous |
18/20 |
- |
4-55946354-G-T |
KDR |
c.3849-24C>A |
- |
IntronicSNV |
- |
29/29 |
19-17946054-G-A |
JAK3 |
c.1915-30C>T |
- |
IntronicSNV |
- |
14/23 |
9-87418964-G-T |
NTRK2 |
c.1397-6493G>T |
- |
IntronicSNV |
- |
14/14 |
7-140482346-G-A |
BRAF |
c.1314+475C>T |
- |
IntronicSNV |
- |
10/17 |
17-78092018-C-T |
GAA |
c.2508C>T |
p.Ser836Ser |
Synonymous |
18/20 |
- |
17-66547249-G-A |
FAM20A |
c.719+765C>T |
- |
IntronicSNV |
- |
4/10 |
16-85690879-A-AA |
GSE1 |
c.1313-4_1313-4dup |
- |
IntronicInsertion |
- |
7/15 |
9-87429290-A-G |
NTRK2 |
c.*3796A>G |
- |
3-UTRSNV |
15/15 |
- |
19-11170576-G-C |
SMARCA4 |
c.4768+15G>C |
- |
IntronicSNV |
- |
33/34 |
19-11170576-G-A |
SMARCA4 |
c.4768+15G>A |
- |
IntronicSNV |
- |
33/34 |
12-121432117-G-C |
HNF1A |
c.864G>C |
p.Gly288Gly |
Synonymous |
4/10 |
- |
9-2096774-G-T |
SMARCA2 |
c.2991+10G>T |
- |
IntronicSNV |
- |
20/33 |
9-2096774-G-C |
SMARCA2 |
c.2991+10G>C |
- |
IntronicSNV |
- |
20/33 |
7-128845702-C-T |
SMO |
c.920+79C>T |
- |
IntronicSNV |
- |
4/11 |
19-40748639-C-T |
AKT2 |
c.288-45G>A |
- |
IntronicSNV |
- |
4/13 |
12-49425978-T-C |
KMT2D |
c.12510A>G |
p.Pro4170Pro |
Synonymous |
39/54 |
- |
5-149460553-A-G |
CSF1R |
c.84T>C |
p.Pro28Pro |
Synonymous |
3/22 |
- |
12-18656225-G-A |
PIK3C2G |
c.2904G>A |
p.Gln968Gln |
Synonymous |
22/32 |
- |
1-78433801-T-C |
FUBP1 |
c.250+48A>G |
- |
IntronicSNV |
- |
3/19 |
12-121435427-G-A |
HNF1A |
c.1460G>A |
p.Ser487Asn |
Missense |
7/10 |
- |
22-30067836-C-G |
NF2 |
c.1021C>G |
p.Arg341Gly |
Missense |
11/16 |
- |
1-78444734-C-T |
FUBP1 |
c.1-46G>A |
- |
5-UTRSNV |
1/20 |
- |
12-57487833-C-T |
NAB2 |
c.1468+452C>T |
- |
IntronicSNV |
- |
6/6 |
10-131334511-G-C |
MGMT |
c.88G>C |
p.Gly30Arg |
Missense |
2/5 |
- |
12-49427652-C-T |
KMT2D |
c.10836G>A |
p.Gln3612Gln |
Synonymous |
39/54 |
- |
7-55240803-C-T |
EGFR |
c.2047C>T |
p.Leu683Leu |
Synonymous |
17/28 |
- |
9-87404086-G-C |
NTRK2 |
c.1397-21371G>C |
- |
IntronicSNV |
- |
14/14 |
9-87385603-G-T |
NTRK2 |
c.1396+18603G>T |
- |
IntronicSNV |
- |
14/14 |
9-87383777-A-C |
NTRK2 |
c.1396+16777A>C |
- |
IntronicSNV |
- |
14/14 |
12-49424534-G-T |
KMT2D |
c.13689C>A |
p.Pro4563Pro |
Synonymous |
41/54 |
- |
9-87387907-A-G |
NTRK2 |
c.1396+20907A>G |
- |
IntronicSNV |
- |
14/14 |
16-71607463-A-T |
TAT |
c.387T>A |
p.Pro129Pro |
Synonymous |
4/12 |
- |
20-57478846-C-T |
GNAS |
c.432C>T |
p.Pro144Pro |
Synonymous |
5/13 |
- |
1-43804340-G-A |
MPL |
c.340G>A |
p.Val114Met |
Missense |
3/12 |
- |
17-66526027-G-T |
PRKAR1A |
c.892-34G>T |
- |
IntronicSNV |
- |
10/11 |
9-87381820-C-T |
NTRK2 |
c.1396+14820C>T |
- |
IntronicSNV |
- |
14/14 |
9-87381476-C-G |
NTRK2 |
c.1396+14476C>G |
- |
IntronicSNV |
- |
14/14 |
9-139402663-T-C |
NOTCH1 |
c.3325+21A>G |
- |
IntronicSNV |
- |
20/33 |
5-1294086-C-T |
TERT |
c.915G>A |
p.Ala305Ala |
Synonymous |
2/15 |
- |
6-157505418-C-T |
ARID1B |
c.3399C>T |
p.Thr1133Thr |
Synonymous |
13/20 |
- |
9-87409367-G-A |
NTRK2 |
c.1397-16090G>A |
- |
IntronicSNV |
- |
14/14 |
9-87381476-C-T |
NTRK2 |
c.1396+14476C>T |
- |
IntronicSNV |
- |
14/14 |
2-29541104-C-A |
ALK |
c.1647+66G>T |
- |
IntronicSNV |
- |
8/28 |
2-29541104-C-G |
ALK |
c.1647+66G>C |
- |
IntronicSNV |
- |
8/28 |
8-133882034-AAGTGCTGGGCA-A |
TG |
c.237_247del11 |
p.Val80Glnfs*27 |
Frameshift |
3/48 |
- |
9-87413829-A-G |
NTRK2 |
c.1397-11628A>G |
- |
IntronicSNV |
- |
14/14 |
9-87420415-T-A |
NTRK2 |
c.1397-5042T>A |
- |
IntronicSNV |
- |
14/14 |
9-87420415-T-C |
NTRK2 |
c.1397-5042T>C |
- |
IntronicSNV |
- |
14/14 |
7-140491258-C-T |
BRAF |
c.1140+2850G>A |
- |
IntronicSNV |
- |
8/17 |
7-140501421-C-T |
BRAF |
c.712-61G>A |
- |
IntronicSNV |
- |
5/17 |
9-87430521-T-A |
NTRK2 |
c.*5027T>A |
- |
3-UTRSNV |
15/15 |
- |
9-87382724-T-C |
NTRK2 |
c.1396+15724T>C |
- |
IntronicSNV |
- |
14/14 |
9-87409025-G-A |
NTRK2 |
c.1397-16432G>A |
- |
IntronicSNV |
- |
14/14 |
17-41223119-T-C |
BRCA1 |
c.4812A>G |
p.Gln1604Gln |
Synonymous |
15/23 |
- |
12-121440263-G-A |
HNF1A |
c.*1268G>A |
- |
3-UTRSNV |
10/10 |
- |
10-43606687-A-G |
RET |
c.1296A>G |
p.Ala432Ala |
Synonymous |
7/20 |
- |
13-28636084-G-A |
FLT3 |
c.288C>T |
p.Asp96Asp |
Synonymous |
3/24 |
- |
8-39840234-A-G |
IDO2 |
c.418A>G |
p.Ile140Val |
Missense |
5/11 |
- |
2-242690726-G-A |
D2HGDH |
c.1063G>A |
p.Gly355Ser |
Missense |
8/10 |
- |
16-71607463-A-C |
TAT |
c.387T>G |
p.Pro129Pro |
Synonymous |
4/12 |
- |
16-71607463-A-G |
TAT |
c.387T>C |
p.Pro129Pro |
Synonymous |
4/12 |
- |
17-41219560-C-T |
BRCA1 |
c.5074+65G>A |
- |
IntronicSNV |
- |
16/22 |
2-48023115-T-C |
MSH6 |
c.540T>C |
p.Asp180Asp |
Synonymous |
3/10 |
- |
7-55249063-G-A |
EGFR |
c.2361G>A |
p.Gln787Gln |
Synonymous |
20/28 |
- |
4-72618352-T-G |
GC |
c.1278A>C |
p.Leu426Leu |
Synonymous |
11/13 |
- |
2-48023115-T-G |
MSH6 |
c.540T>G |
p.Asp180Glu |
Missense |
3/10 |
- |
9-135786112-T-G |
TSC1 |
c.1142-33A>C |
- |
IntronicSNV |
- |
11/22 |
9-135786112-T-C |
TSC1 |
c.1142-33A>G |
- |
IntronicSNV |
- |
11/22 |
12-121435353-C-T |
HNF1A |
c.1386C>T |
p.Val462Val |
Synonymous |
7/10 |
- |
5-161117338-G-A |
GABRA6 |
c.805G>A |
p.Val269Ile |
Missense |
7/9 |
- |
4-55143577-G-A |
PDGFRA |
c.1809G>A |
p.Ala603Ala |
Synonymous |
13/23 |
- |
16-85688481-C-T |
GSE1 |
c.681C>T |
p.Thr227Thr |
Synonymous |
5/16 |
- |
5-131923710-G-A |
RAD50 |
c.980G>A |
p.Arg327His |
Missense |
7/25 |
- |
12-4388084-C-G |
CCND2 |
c.570C>G |
p.Thr190Thr |
Synonymous |
3/5 |
- |
12-49438164-C-T |
KMT2D |
c.5083+22G>A |
- |
IntronicSNV |
- |
20/53 |
12-4388084-C-T |
CCND2 |
c.570C>T |
p.Thr190Thr |
Synonymous |
3/5 |
- |
17-78092018-C-A |
GAA |
c.2508C>A |
p.Ser836Ser |
Synonymous |
18/20 |
- |
8-133898964-C-T |
TG |
c.1347C>T |
p.Pro449Pro |
Synonymous |
9/48 |
- |
9-87384174-A-G |
NTRK2 |
c.1396+17174A>G |
- |
IntronicSNV |
- |
14/14 |
8-133898964-C-A |
TG |
c.1347C>A |
p.Pro449Pro |
Synonymous |
9/48 |
- |
16-71603817-CCC-AGC |
TAT |
c.1063_1065delGGGinsAGC |
p.Gly355Ser |
Missense |
10/12 |
- |
2-48033551-C-T |
MSH6 |
c.3802-40C>T |
- |
IntronicSNV |
- |
8/9 |
9-87416947-A-G |
NTRK2 |
c.1397-8510A>G |
- |
IntronicSNV |
- |
14/14 |
2-48033551-C-G |
MSH6 |
c.3802-40C>G |
- |
IntronicSNV |
- |
8/9 |
9-87416947-A-T |
NTRK2 |
c.1397-8510A>T |
- |
IntronicSNV |
- |
14/14 |
17-78078728-C-T |
GAA |
c.343C>T |
p.Gln115* |
Nonsense |
2/20 |
- |
7-92247539-A-G |
CDK6 |
c.699-18T>C |
- |
IntronicSNV |
- |
6/7 |
4-55151958-T-TG |
PDGFRA |
c.2440-50_2440-49insG |
- |
IntronicInsertion |
- |
17/22 |
4-55151958-T-TA |
PDGFRA |
c.2440-50_2440-49insA |
- |
IntronicInsertion |
- |
17/22 |
1-204507128-T-C |
MDM4 |
c.412-209T>C |
- |
IntronicSNV |
- |
6/10 |
7-55214348-C-T |
EGFR |
c.474C>T |
p.Asn158Asn |
Synonymous |
4/28 |
- |
1-120506108-G-A |
NOTCH2 |
c.1915+89C>T |
- |
IntronicSNV |
- |
11/33 |
2-242680375-C-T |
D2HGDH |
c.293-73C>T |
- |
IntronicSNV |
- |
2/9 |
9-87363201-A-T |
NTRK2 |
c.1296+3213A>T |
- |
IntronicSNV |
- |
13/14 |
9-139412197-G-C |
NOTCH1 |
c.1441+7C>G |
- |
IntronicSNV |
- |
8/33 |
9-139412197-G-A |
NOTCH1 |
c.1441+7C>T |
- |
IntronicSNV |
- |
8/33 |
9-98211572-T-A |
PTCH1 |
c.3583A>T |
p.Thr1195Ser |
Missense |
22/24 |
- |
19-17948732-T-C |
JAK3 |
c.1701+9A>G |
- |
IntronicSNV |
- |
12/23 |
19-51323232-T-C |
KLK1 |
c.556A>G |
p.Lys186Glu |
Missense |
4/5 |
- |
19-51323232-T-G |
KLK1 |
c.556A>C |
p.Lys186Gln |
Missense |
4/5 |
- |
3-142281612-A-G |
ATR |
c.632T>C |
p.Met211Thr |
Missense |
4/47 |
- |
3-37107190-A-G |
LRRFIP2 |
c.1699+111T>C |
- |
IntronicSNV |
- |
23/27 |
9-87390805-A-C |
NTRK2 |
c.1396+23805A>C |
- |
IntronicSNV |
- |
14/14 |
10-89720907-T-G |
PTEN |
c.1026+32T>G |
- |
IntronicSNV |
- |
8/8 |
4-72623855-A-C |
GC |
c.735T>G |
p.Thr245Thr |
Synonymous |
7/13 |
- |
5-161114522-T-C |
GABRA6 |
c.225+513T>C |
- |
IntronicSNV |
- |
3/8 |
4-1807922-G-A |
FGFR3 |
c.1959+22G>A |
- |
IntronicSNV |
- |
14/17 |
13-32906729-A-C |
BRCA2 |
c.1114A>C |
p.Asn372His |
Missense |
10/27 |
- |
19-17952185-G-T |
JAK3 |
c.1142+13C>A |
- |
IntronicSNV |
- |
8/23 |
19-11170585-C-T |
SMARCA4 |
c.4768+24C>T |
- |
IntronicSNV |
- |
33/34 |
19-11170585-C-A |
SMARCA4 |
c.4768+24C>A |
- |
IntronicSNV |
- |
33/34 |
8-38277066-C-A |
FGFR1 |
c.1269G>T |
p.Leu423Leu |
Synonymous |
9/18 |
- |
8-38277066-C-T |
FGFR1 |
c.1269G>A |
p.Leu423Leu |
Synonymous |
9/18 |
- |
8-133906028-C-T |
TG |
c.2855C>T |
p.Pro952Leu |
Missense |
11/48 |
- |
9-139399070-G-C |
NOTCH1 |
c.5018+55C>G |
- |
IntronicSNV |
- |
26/33 |
16-68862165-C-T |
CDH1 |
c.2253C>T |
p.Asn751Asn |
Synonymous |
14/16 |
- |
2-242690675-G-A |
D2HGDH |
c.1012G>A |
p.Val338Ile |
Missense |
8/10 |
- |
12-46298877-A-C |
ARID2 |
c.*16A>C |
- |
3-UTRSNV |
21/21 |
- |
9-139396983-A-G |
NOTCH1 |
c.5168-43T>C |
- |
IntronicSNV |
- |
27/33 |
9-98221982-G-A |
PTCH1 |
c.2787C>T |
p.Asn929Asn |
Synonymous |
17/24 |
- |
17-78078775-A-C |
GAA |
c.390A>C |
p.Pro130Pro |
Synonymous |
2/20 |
- |
4-55962547-G-GG |
KDR |
c.2615-37_2615-37dup |
- |
IntronicInsertion |
- |
18/29 |
9-87384899-A-G |
NTRK2 |
c.1396+17899A>G |
- |
IntronicSNV |
- |
14/14 |
13-32915005-G-T |
BRCA2 |
c.6513G>T |
p.Val2171Val |
Synonymous |
11/27 |
- |
4-72631238-GGTG-G |
GC |
c.384_386delCCA |
p.His128delHis |
InFrameDeletion |
4/13 |
- |
20-57484633-C-T |
GNAS |
c.717C>T |
p.Asn239Asn |
Synonymous |
9/13 |
- |
4-55146406-T-TTGTAAGCACAAAAG |
PDGFRA |
c.2157-77_2157-76insTGTAAGCACAAAAG |
- |
IntronicInsertion |
- |
15/22 |
16-71602656-C-T |
TAT |
c.1182G>A |
p.Glu394Glu |
Synonymous |
11/12 |
- |
7-138530643-C-G |
KIAA1549 |
c.5295-1424G>C |
- |
IntronicSNV |
- |
17/19 |
5-1255520-G-A |
TERT |
c.2850C>T |
p.His950His |
Synonymous |
13/15 |
- |
20-1969934-A-G |
PDYN |
c.-20+3296T>C |
- |
intron_variant |
- |
1/2 |
12-18499777-C-G |
PIK3C2G |
c.1625+7C>G |
- |
IntronicSNV |
- |
11/31 |
2-242680430-A-G |
D2HGDH |
c.293-18A>G |
- |
IntronicSNV |
- |
2/9 |
13-32915005-G-A |
BRCA2 |
c.6513G>A |
p.Val2171Val |
Synonymous |
11/27 |
- |
9-87408352-C-T |
NTRK2 |
c.1397-17105C>T |
- |
IntronicSNV |
- |
14/14 |
19-40741862-C-A |
AKT2 |
c.1110G>T |
p.Pro370Pro |
Synonymous |
11/14 |
- |
9-87395778-T-C |
NTRK2 |
c.1396+28778T>C |
- |
IntronicSNV |
- |
14/14 |
19-40741862-C-T |
AKT2 |
c.1110G>A |
p.Pro370Pro |
Synonymous |
11/14 |
- |
9-139391321-G-A |
NOTCH1 |
c.6870C>T |
p.Ser2290Ser |
Synonymous |
34/34 |
- |
19-11105608-T-C |
SMARCA4 |
c.1524T>C |
p.His508His |
Synonymous |
9/35 |
- |
7-138549075-G-A |
KIAA1549 |
c.4930-2873C>T |
- |
IntronicSNV |
- |
15/19 |
X-76937963-G-T |
ATRX |
c.2785C>A |
p.Gln929Lys |
Missense |
9/35 |
- |
9-87385603-G-A |
NTRK2 |
c.1396+18603G>A |
- |
IntronicSNV |
- |
14/14 |
7-92355033-T-A |
CDK6 |
c.444A>T |
p.Pro148Pro |
Synonymous |
4/8 |
- |
12-49424203-G-A |
KMT2D |
c.13859C>T |
p.Pro4620Leu |
Missense |
42/54 |
- |
16-2138269-T-G |
TSC2 |
c.5202T>G |
p.Asp1734Glu |
Missense |
41/42 |
- |
9-98239190-G-C |
PTCH1 |
c.1504-51C>G |
- |
IntronicSNV |
- |
10/23 |
7-148508833-A-G |
EZH2 |
c.1852-21T>C |
- |
IntronicSNV |
- |
15/19 |
16-2138218-A-C |
TSC2 |
c.5161-10A>C |
- |
IntronicSNV |
- |
40/41 |
4-72649685-T-C |
GC |
c.51A>G |
p.Leu17Leu |
Synonymous |
1/13 |
- |
4-55151711-C-T |
PDGFRA |
c.2439+58C>T |
- |
IntronicSNV |
- |
17/22 |
7-140489173-A-G |
BRAF |
c.1141-1789T>C |
- |
IntronicSNV |
- |
8/17 |
2-47643476-C-A |
MSH2 |
c.984C>A |
p.Ala328Ala |
Synonymous |
6/16 |
- |
6-157431564-A-G |
ARID1B |
c.2282-42A>G |
- |
IntronicSNV |
- |
6/19 |
7-138550097-G-A |
KIAA1549 |
c.4929+2624C>T |
- |
IntronicSNV |
- |
15/19 |
7-140493351-T-C |
BRAF |
c.1140+757A>G |
- |
IntronicSNV |
- |
8/17 |
13-28602256-C-T |
FLT3 |
c.2053+59G>A |
- |
IntronicSNV |
- |
16/23 |
2-29444076-G-T |
ALK |
c.3516-375C>A |
- |
IntronicSNV |
- |
22/28 |
16-71606095-G-A |
TAT |
c.700C>T |
p.Leu234Leu |
Synonymous |
6/12 |
- |
9-133760029-C-A |
ABL1 |
c.2409C>A |
p.Pro803Pro |
Synonymous |
11/11 |
- |
7-138540716-G-T |
KIAA1549 |
c.5248-3701C>A |
- |
IntronicSNV |
- |
16/19 |
12-121434639-TCATTCAT-TCATTCATTCATTCAT |
HNF1A |
c.1309+94_1309+101dup |
- |
IntronicInsertion |
- |
6/9 |
12-49448463-C-T |
KMT2D |
c.248G>A |
p.Arg83Gln |
Missense |
3/54 |
- |
17-78078550-T-A |
GAA |
c.165T>A |
p.Ala55Ala |
Synonymous |
2/20 |
- |
5-112177172-G-A |
APC |
c.5881G>A |
p.Val1961Ile |
Missense |
16/16 |
- |
16-3819294-C-T |
CREBBP |
c.2941G>A |
p.Ala981Thr |
Missense |
15/31 |
- |
7-138552313-T-A |
KIAA1549 |
c.4929+408A>T |
- |
IntronicSNV |
- |
15/19 |
7-138547919-C-T |
KIAA1549 |
c.4930-1717G>A |
- |
IntronicSNV |
- |
15/19 |
7-138531628-G-C |
KIAA1549 |
c.5295-2409C>G |
- |
IntronicSNV |
- |
17/19 |
19-40742320-T-C |
AKT2 |
c.832-28A>G |
- |
IntronicSNV |
- |
9/13 |
1-45293318-G-A |
PTCH2 |
c.2127C>T |
p.Asp709Asp |
Synonymous |
15/22 |
- |
9-87428808-A-G |
NTRK2 |
c.*3314A>G |
- |
3-UTRSNV |
15/15 |
- |
11-108151686-T-C |
ATM |
c.3403-36T>C |
- |
IntronicSNV |
- |
23/62 |
4-72634043-G-A |
GC |
c.236C>T |
p.Ala79Val |
Missense |
3/13 |
- |
9-2039411-T-C |
SMARCA2 |
c.356-55T>C |
- |
IntronicSNV |
- |
3/33 |
2-158630729-C-T |
ACVR1 |
c.544-30G>A |
- |
IntronicSNV |
- |
5/10 |
7-55229255-G-A |
EGFR |
c.1562G>A |
p.Arg521Lys |
Missense |
13/28 |
- |
7-55229255-G-T |
EGFR |
c.1562G>T |
p.Arg521Met |
Missense |
13/28 |
- |
7-55229255-G-C |
EGFR |
c.1562G>C |
p.Arg521Thr |
Missense |
13/28 |
- |
12-49444545-G-A |
KMT2D |
c.2826C>T |
p.Ile942Ile |
Synonymous |
11/54 |
- |
8-133899391-G-A |
TG |
c.1774G>A |
p.Ala592Thr |
Missense |
9/48 |
- |
2-29444095-C-T |
ALK |
c.3516-394G>A |
- |
IntronicSNV |
- |
22/28 |
10-123277531-T-A |
FGFR2 |
c.940-554A>T |
- |
IntronicSNV |
- |
7/17 |
9-135776925-T-C |
TSC1 |
c.2502+51A>G |
- |
IntronicSNV |
- |
19/22 |
10-123277531-T-C |
FGFR2 |
c.940-554A>G |
- |
IntronicSNV |
- |
7/17 |
9-139405093-G-C |
NOTCH1 |
c.2740+12C>G |
- |
IntronicSNV |
- |
17/33 |
3-178917488-C-T |
PIK3CA |
c.363C>T |
p.Ile121Ile |
Synonymous |
3/21 |
- |
9-87394720-G-C |
NTRK2 |
c.1396+27720G>C |
- |
IntronicSNV |
- |
14/14 |
12-121416650-A-T |
HNF1A |
c.79A>T |
p.Ile27Phe |
Missense |
1/10 |
- |
9-87360153-G-A |
NTRK2 |
c.1296+165G>A |
- |
IntronicSNV |
- |
13/14 |
9-87404086-G-A |
NTRK2 |
c.1397-21371G>A |
- |
IntronicSNV |
- |
14/14 |
X-39932907-T-C |
BCOR |
c.1692A>G |
p.Ala564Ala |
Synonymous |
4/15 |
- |
12-49434384-G-A |
KMT2D |
c.7169C>T |
p.Pro2390Leu |
Missense |
31/54 |
- |
20-57484311-C-T |
GNAS |
c.585+40C>T |
- |
IntronicSNV |
- |
7/12 |
2-47739533-G-A |
KCNK12 |
c.*8513C>T |
- |
IntergenicSNV |
2/2 |
- |
22-29108079-C-G |
CHEK2 |
c.813-74G>C |
- |
IntronicSNV |
- |
6/15 |
2-242688203-C-T |
D2HGDH |
c.854-1363C>T |
- |
IntronicSNV |
- |
6/9 |
8-133880390-C-G |
TG |
c.98C>G |
p.Pro33Arg |
Missense |
2/48 |
- |
17-29508699-T-C |
NF1 |
c.655-29T>C |
- |
IntronicSNV |
- |
6/56 |
9-139405584-C-T |
NOTCH1 |
c.2587+20G>A |
- |
IntronicSNV |
- |
16/33 |
12-18473928-T-C |
PIK3C2G |
c.1170T>C |
p.Asn390Asn |
Synonymous |
7/32 |
- |
8-133941406-T-C |
TG |
c.4785T>C |
p.Asp1595Asp |
Synonymous |
23/48 |
- |
8-38272814-T-C |
FGFR1 |
c.1849-395A>G |
- |
IntronicSNV |
- |
13/17 |
9-133710804-T-C |
ABL1 |
c.137-18647T>C |
- |
IntronicSNV |
- |
1/10 |
4-72622593-G-A |
GC |
c.870C>T |
p.Ser290Ser |
Synonymous |
8/13 |
- |
5-161128627-C-T |
GABRA6 |
c.1210C>T |
p.Pro404Ser |
Missense |
9/9 |
- |
12-49434074-C-G |
KMT2D |
c.7479G>C |
p.Gly2493Gly |
Synonymous |
31/54 |
- |
19-17940816-G-C |
JAK3 |
c.3207+101C>G |
- |
IntronicSNV |
- |
23/23 |
12-49434074-C-T |
KMT2D |
c.7479G>A |
p.Gly2493Gly |
Synonymous |
31/54 |
- |
9-87362039-A-C |
NTRK2 |
c.1296+2051A>C |
- |
IntronicSNV |
- |
13/14 |
16-85706047-A-C |
GSE1 |
c.3556A>C |
p.Arg1186Arg |
Synonymous |
16/16 |
- |
16-85706047-A-T |
GSE1 |
c.3556A>T |
p.Arg1186Trp |
Missense |
16/16 |
- |
2-29445458-G-A |
ALK |
c.3375C>T |
p.Gly1125Gly |
Synonymous |
21/29 |
- |
17-78078818-G-C |
GAA |
c.433G>C |
p.Glu145Gln |
Missense |
2/20 |
- |
22-21337325-G-A |
LZTR1 |
c.210G>A |
p.Lys70Lys |
Synonymous |
2/21 |
- |
13-48919358-T-G |
RB1 |
c.500+23T>G |
- |
IntronicSNV |
- |
4/26 |
16-85706047-A-G |
GSE1 |
c.3556A>G |
p.Arg1186Gly |
Missense |
16/16 |
- |
12-49434074-C-A |
KMT2D |
c.7479G>T |
p.Gly2493Gly |
Synonymous |
31/54 |
- |
9-87400217-A-G |
NTRK2 |
c.1397-25240A>G |
- |
IntronicSNV |
- |
14/14 |
1-204506107-C-T |
MDM4 |
c.344-451C>T |
- |
IntronicSNV |
- |
5/10 |
6-135523774-A-G |
MYB |
c.1690-581A>G |
- |
IntronicSNV |
- |
13/14 |
5-112164561-G-A |
APC |
c.1635G>A |
p.Ala545Ala |
Synonymous |
14/16 |
- |
14-95569761-C-T |
DICER1 |
c.3972G>A |
p.Lys1324Lys |
Synonymous |
23/29 |
- |
17-78087148-C-G |
GAA |
c.2172C>G |
p.Ala724Ala |
Synonymous |
15/20 |
- |
6-114281236-C-T |
HDAC2 |
c.53-54G>A |
- |
IntronicSNV |
- |
1/13 |
9-87428619-G-T |
NTRK2 |
c.*3125G>T |
- |
3-UTRSNV |
15/15 |
- |
17-29541437-T-G |
NF1 |
c.1393-32T>G |
- |
IntronicSNV |
- |
12/56 |
17-29541437-T-C |
NF1 |
c.1393-32T>C |
- |
IntronicSNV |
- |
12/56 |
17-29541437-T-A |
NF1 |
c.1393-32T>A |
- |
IntronicSNV |
- |
12/56 |
9-87415695-C-A |
NTRK2 |
c.1397-9762C>A |
- |
IntronicSNV |
- |
14/14 |
19-51323733-C-T |
KLK1 |
c.207-34G>A |
- |
IntronicSNV |
- |
2/4 |
15-76413529-G-A |
TMEM266 |
c.1-13076G>A |
- |
IntronicSNV |
- |
1/10 |
4-55140016-T-C |
PDGFRA |
c.1558+119T>C |
- |
IntronicSNV |
- |
10/22 |
4-55141055-A-G |
PDGFRA |
c.1701A>G |
p.Pro567Pro |
Synonymous |
12/23 |
- |
6-157507698-G-T |
ARID1B |
c.3550+2129G>T |
- |
IntronicSNV |
- |
13/19 |
17-29486152-G-A |
NF1 |
c.288+41G>A |
- |
IntronicSNV |
- |
3/56 |
9-87380551-C-G |
NTRK2 |
c.1396+13551C>G |
- |
IntronicSNV |
- |
14/14 |
19-17945471-G-C |
JAK3 |
c.2259C>G |
p.Ala753Ala |
Synonymous |
17/24 |
- |
19-17945471-G-A |
JAK3 |
c.2259C>T |
p.Ala753Ala |
Synonymous |
17/24 |
- |
4-55139978-T-C |
PDGFRA |
c.1558+81T>C |
- |
IntronicSNV |
- |
10/22 |
9-87428619-G-A |
NTRK2 |
c.*3125G>A |
- |
3-UTRSNV |
15/15 |
- |
9-87415695-C-T |
NTRK2 |
c.1397-9762C>T |
- |
IntronicSNV |
- |
14/14 |
19-51323733-C-A |
KLK1 |
c.207-34G>T |
- |
IntronicSNV |
- |
2/4 |
13-49047451-A-G |
RB1 |
c.2490-45A>G |
- |
IntronicSNV |
- |
23/26 |
6-157507698-G-C |
ARID1B |
c.3550+2129G>C |
- |
IntronicSNV |
- |
13/19 |
10-43613843-G-A |
RET |
c.2307G>A |
p.Leu769Leu |
Synonymous |
13/20 |
- |
2-48025764-C-T |
MSH6 |
c.642C>T |
p.Tyr214Tyr |
Synonymous |
4/10 |
- |
2-48025764-C-G |
MSH6 |
c.642C>G |
p.Tyr214* |
Nonsense |
4/10 |
- |
2-48025764-C-A |
MSH6 |
c.642C>A |
p.Tyr214* |
Nonsense |
4/10 |
- |
17-41245471-C-T |
BRCA1 |
c.2077G>A |
p.Asp693Asn |
Missense |
10/23 |
- |
2-242688292-C-T |
D2HGDH |
c.854-1274C>T |
- |
IntronicSNV |
- |
6/9 |
9-87413266-A-G |
NTRK2 |
c.1397-12191A>G |
- |
IntronicSNV |
- |
14/14 |
1-45293518-A-G |
PTCH2 |
c.2055T>C |
p.Ala685Ala |
Synonymous |
14/22 |
- |
9-87379735-G-A |
NTRK2 |
c.1396+12735G>A |
- |
IntronicSNV |
- |
14/14 |
2-29416481-T-C |
ALK |
c.4472A>G |
p.Lys1491Arg |
Missense |
29/29 |
- |
7-140488156-T-G |
BRAF |
c.1141-772A>C |
- |
IntronicSNV |
- |
8/17 |
8-38272542-C-A |
FGFR1 |
c.1849-123G>T |
- |
IntronicSNV |
- |
13/17 |
3-142277575-A-T |
ATR |
c.1776T>A |
p.Gly592Gly |
Synonymous |
8/47 |
- |
8-133898880-T-C |
TG |
c.1263T>C |
p.Leu421Leu |
Synonymous |
9/48 |
- |
12-57487777-G-C |
NAB2 |
c.1468+396G>C |
- |
IntronicSNV |
- |
6/6 |
12-49434746-G-A |
KMT2D |
c.6807C>T |
p.Ser2269Ser |
Synonymous |
31/54 |
- |
8-133898880-T-A |
TG |
c.1263T>A |
p.Leu421Leu |
Synonymous |
9/48 |
- |
8-133898880-T-G |
TG |
c.1263T>G |
p.Leu421Leu |
Synonymous |
9/48 |
- |
9-2097311-G-A |
SMARCA2 |
c.2992-74G>A |
- |
IntronicSNV |
- |
20/33 |
7-140500135-C-T |
BRAF |
c.980+27G>A |
- |
IntronicSNV |
- |
7/17 |
16-2222286-C-T |
TRAF7 |
c.570C>T |
p.His190His |
Synonymous |
8/21 |
- |
17-7578210-T-C |
TP53 |
c.639A>G |
p.Arg213Arg |
Synonymous |
6/11 |
- |
9-87376089-G-C |
NTRK2 |
c.1396+9089G>C |
- |
IntronicSNV |
- |
14/14 |
2-242707101-A-G |
D2HGDH |
c.1307-24A>G |
- |
IntronicSNV |
- |
9/9 |
17-78091461-C-A |
GAA |
c.2394C>A |
p.Ile798Ile |
Synonymous |
17/20 |
- |
3-12626516-G-A |
RAF1 |
c.1669-36C>T |
- |
IntronicSNV |
- |
15/16 |
16-2138584-G-C |
TSC2 |
c.5397G>C |
p.Ser1799Ser |
Synonymous |
42/42 |
- |
17-78091545-G-A |
GAA |
c.2478G>A |
p.Leu826Leu |
Synonymous |
17/20 |
- |
17-78091545-G-T |
GAA |
c.2478G>T |
p.Leu826Leu |
Synonymous |
17/20 |
- |
22-21349579-C-T |
LZTR1 |
c.1942+264C>T |
- |
IntronicSNV |
- |
16/20 |
13-32911888-A-C |
BRCA2 |
c.3396A>C |
p.Lys1132Asn |
Missense |
11/27 |
- |
13-32911888-A-G |
BRCA2 |
c.3396A>G |
p.Lys1132Lys |
Synonymous |
11/27 |
- |
22-24167513-G-T |
SMARCB1 |
c.897G>T |
p.Ser299Ser |
Synonymous |
7/9 |
- |
17-41245237-A-G |
BRCA1 |
c.2311T>C |
p.Leu771Leu |
Synonymous |
10/23 |
- |
18-52901846-C-G |
TCF4 |
c.1419G>C |
p.Pro473Pro |
Synonymous |
16/20 |
- |
17-7578210-T-A |
TP53 |
c.639A>T |
p.Arg213Arg |
Synonymous |
6/11 |
- |
10-103870951-C-T |
LDB1 |
c.174-50G>A |
- |
IntronicSNV |
- |
3/10 |
22-26144760-C-T |
MYO18B |
c.-110+6500C>T |
- |
intron_variant |
- |
1/43 |
1-120611758-G-A |
NOTCH2 |
c.73+190C>T |
- |
IntronicSNV |
- |
1/33 |
16-2138269-T-A |
TSC2 |
c.5202T>A |
p.Asp1734Glu |
Missense |
41/42 |
- |
16-2138584-G-T |
TSC2 |
c.5397G>T |
p.Ser1799Ser |
Synonymous |
42/42 |
- |
2-209113192-G-A |
IDH1 |
c.315C>T |
p.Gly105Gly |
Synonymous |
4/10 |
- |
19-11170786-G-A |
SMARCA4 |
c.4834G>A |
p.Gly1612Ser |
Missense |
34/35 |
- |
3-37083740-A-G |
MLH1 |
c.1668-19A>G |
- |
IntronicSNV |
- |
14/18 |
12-49434365-A-G |
KMT2D |
c.7188T>C |
p.Cys2396Cys |
Synonymous |
31/54 |
- |
12-58144942-A-G |
CDK4 |
c.354+48T>C |
- |
IntronicSNV |
- |
3/7 |
1-78433801-T-A |
FUBP1 |
c.250+48A>T |
- |
IntronicSNV |
- |
3/19 |
19-11145691-C-T |
SMARCA4 |
c.4053C>T |
p.Asp1351Asp |
Synonymous |
29/35 |
- |
7-55219159-C-G |
EGFR |
c.628+104C>G |
- |
IntronicSNV |
- |
5/27 |
7-138535039-A-G |
KIAA1549 |
c.5294+1930T>C |
- |
IntronicSNV |
- |
17/19 |
7-55219159-C-T |
EGFR |
c.628+104C>T |
- |
IntronicSNV |
- |
5/27 |
5-1279612-C-T |
TERT |
c.1951-27G>A |
- |
IntronicSNV |
- |
4/14 |
X-39911657-C-A |
BCOR |
c.4875-4G>T |
- |
IntronicSNV |
- |
14/14 |
4-72629590-G-C |
GC |
c.537C>G |
p.Thr179Thr |
Synonymous |
5/13 |
- |
4-72629590-G-A |
GC |
c.537C>T |
p.Thr179Thr |
Synonymous |
5/13 |
- |
2-209108317-C-T |
IDH1 |
c.532G>A |
p.Val178Ile |
Missense |
6/10 |
- |
9-133761001-A-C |
ABL1 |
c.3381A>C |
p.Pro1127Pro |
Synonymous |
11/11 |
- |
9-133761001-A-G |
ABL1 |
c.3381A>G |
p.Pro1127Pro |
Synonymous |
11/11 |
- |
9-133761001-A-T |
ABL1 |
c.3381A>T |
p.Pro1127Pro |
Synonymous |
11/11 |
- |
6-135515448-T-C |
MYB |
c.844-46T>C |
- |
IntronicSNV |
- |
7/14 |
12-57492996-G-A |
STAT6 |
c.1891+81C>T |
- |
IntronicSNV |
- |
16/21 |
4-55146406-T-G |
PDGFRA |
c.2157-77T>G |
- |
IntronicSNV |
- |
15/22 |
12-18446881-C-T |
PIK3C2G |
c.966C>T |
p.Cys322Cys |
Synonymous |
5/32 |
- |
12-18473881-T-C |
PIK3C2G |
c.1138-15T>C |
- |
IntronicSNV |
- |
6/31 |
5-146648359-G-A |
STK32A |
c.53-9328G>A |
- |
IntronicSNV |
- |
2/6 |
7-138541488-A-C |
KIAA1549 |
c.5247+4397T>G |
- |
IntronicSNV |
- |
16/19 |
9-87414794-A-G |
NTRK2 |
c.1397-10663A>G |
- |
IntronicSNV |
- |
14/14 |
7-138550096-C-A |
KIAA1549 |
c.4929+2625G>T |
- |
IntronicSNV |
- |
15/19 |
1-120512104-T-A |
NOTCH2 |
c.1108+30A>T |
- |
IntronicSNV |
- |
6/33 |
9-87369613-A-G |
NTRK2 |
c.1396+2613A>G |
- |
IntronicSNV |
- |
14/14 |
9-87369613-A-T |
NTRK2 |
c.1396+2613A>T |
- |
IntronicSNV |
- |
14/14 |
4-55140016-T-A |
PDGFRA |
c.1558+119T>A |
- |
IntronicSNV |
- |
10/22 |
12-18473881-T-G |
PIK3C2G |
c.1138-15T>G |
- |
IntronicSNV |
- |
6/31 |
11-94197260-A-G |
MRE11 |
c.1225+19T>C |
- |
IntronicSNV |
- |
11/19 |
9-87428866-C-T |
NTRK2 |
c.*3372C>T |
- |
3-UTRSNV |
15/15 |
- |
13-32903685-C-T |
BRCA2 |
c.681+56C>T |
- |
IntronicSNV |
- |
8/26 |
13-32903685-C-G |
BRCA2 |
c.681+56C>G |
- |
IntronicSNV |
- |
8/26 |
22-21349677-C-T |
LZTR1 |
c.1943-358C>T |
- |
IntronicSNV |
- |
16/20 |
8-133894108-G-A |
TG |
c.639G>A |
p.Arg213Arg |
Synonymous |
6/48 |
- |
17-78091428-A-C |
GAA |
c.2361A>C |
p.Pro787Pro |
Synonymous |
17/20 |
- |
17-78091428-A-G |
GAA |
c.2361A>G |
p.Pro787Pro |
Synonymous |
17/20 |
- |
4-1805593-G-C |
FGFR3 |
c.1075+30G>C |
- |
IntronicSNV |
- |
8/17 |
2-48010488-G-T |
MSH6 |
c.116G>T |
p.Gly39Val |
Missense |
1/10 |
- |
4-1805593-G-T |
FGFR3 |
c.1075+30G>T |
- |
IntronicSNV |
- |
8/17 |
4-1805593-G-A |
FGFR3 |
c.1075+30G>A |
- |
IntronicSNV |
- |
8/17 |
1-246089811-G-C |
SMYD3 |
c.525+1422C>G |
- |
IntronicSNV |
- |
7/11 |
17-78078622-CC-C |
GAA |
c.237delC |
p.Thr80Hisfs*62 |
Frameshift |
2/20 |
- |
1-246089811-G-A |
SMYD3 |
c.525+1422C>T |
- |
IntronicSNV |
- |
7/11 |
12-49437181-T-C |
KMT2D |
c.5498A>G |
p.Glu1833Gly |
Missense |
24/54 |
- |
1-45291908-G-A |
PTCH2 |
c.3114+14C>T |
- |
IntronicSNV |
- |
19/21 |
9-87390378-T-G |
NTRK2 |
c.1396+23378T>G |
- |
IntronicSNV |
- |
14/14 |
8-121782402-C-T |
SNTB1 |
c.571+41111G>A |
- |
IntronicSNV |
- |
1/6 |
9-98229389-C-G |
PTCH1 |
c.2560+9G>C |
- |
IntronicSNV |
- |
15/23 |
5-131977963-T-C |
RAD50 |
c.3846T>C |
p.Tyr1282Tyr |
Synonymous |
25/25 |
- |
2-69260357-A-G |
ANTXR1 |
c.153-6819A>G |
- |
IntronicSNV |
- |
1/17 |
10-123325158-G-A |
FGFR2 |
c.170C>T |
p.Ser57Leu |
Missense |
3/18 |
- |
16-68855966-G-A |
CDH1 |
c.1774G>A |
p.Ala592Thr |
Missense |
12/16 |
- |
9-98238403-G-A |
PTCH1 |
c.1641C>T |
p.Ser547Ser |
Synonymous |
12/24 |
- |
8-133885332-T-C |
TG |
c.504T>C |
p.Asn168Asn |
Synonymous |
5/48 |
- |
12-121437474-C-T |
HNF1A |
c.1768+44C>T |
- |
IntronicSNV |
- |
9/9 |
4-72634027-A-G |
GC |
c.252T>C |
p.Tyr84Tyr |
Synonymous |
3/13 |
- |
2-29446202-G-A |
ALK |
c.3359+6C>T |
- |
IntronicSNV |
- |
20/28 |
X-69066821-A-G |
EDA |
c.397-110056A>G |
- |
IntronicSNV |
- |
1/7 |
16-68855966-G-T |
CDH1 |
c.1774G>T |
p.Ala592Ser |
Missense |
12/16 |
- |
14-105258892-C-T |
AKT1 |
c.46+43G>A |
- |
IntronicSNV |
- |
2/13 |
9-139397707-G-A |
NOTCH1 |
c.5094C>T |
p.Asp1698Asp |
Synonymous |
27/34 |
- |
9-98238358-G-A |
PTCH1 |
c.1686C>T |
p.Ala562Ala |
Synonymous |
12/24 |
- |
10-131334511-G-T |
MGMT |
c.88G>T |
p.Gly30* |
Nonsense |
2/5 |
- |
1-120611964-G-C |
NOTCH2 |
c.57C>G |
p.Cys19Trp |
Missense |
1/34 |
- |
1-120611964-G-A |
NOTCH2 |
c.57C>T |
p.Cys19Cys |
Synonymous |
1/34 |
- |
4-1808523-G-T |
FGFR3 |
c.2169-33G>T |
- |
IntronicSNV |
- |
16/17 |
17-78078600-C-G |
GAA |
c.215C>G |
p.Pro72Arg |
Missense |
2/20 |
- |
1-120611876-C-T |
NOTCH2 |
c.73+72G>A |
- |
IntronicSNV |
- |
1/33 |
7-128843277-C-T |
SMO |
c.384C>T |
p.Ala128Ala |
Synonymous |
2/12 |
- |
1-78432503-G-A |
FUBP1 |
c.415+65C>T |
- |
IntronicSNV |
- |
6/19 |
9-87404873-T-A |
NTRK2 |
c.1397-20584T>A |
- |
IntronicSNV |
- |
14/14 |
1-78432503-G-C |
FUBP1 |
c.415+65C>G |
- |
IntronicSNV |
- |
6/19 |
7-55266417-T-C |
EGFR |
c.2709T>C |
p.Thr903Thr |
Synonymous |
23/28 |
- |
11-63533965-G-A |
C11orf95 |
c.140-189C>T |
- |
IntronicSNV |
- |
1/4 |
9-98244242-T-C |
PTCH1 |
c.735A>G |
p.Thr245Thr |
Synonymous |
5/24 |
- |
22-21349037-A-G |
LZTR1 |
c.1785+21A>G |
- |
IntronicSNV |
- |
15/20 |
22-21349037-A-T |
LZTR1 |
c.1785+21A>T |
- |
IntronicSNV |
- |
15/20 |
2-242684115-T-C |
D2HGDH |
c.685-9T>C |
- |
IntronicSNV |
- |
5/9 |
X-44913052-T-A |
KDM6A |
c.749-22T>A |
- |
IntronicSNV |
- |
9/28 |
1-78430690-G-GG |
FUBP1 |
c.637-37_637-37dup |
- |
IntronicInsertion |
- |
8/19 |
4-55143577-G-C |
PDGFRA |
c.1809G>C |
p.Ala603Ala |
Synonymous |
13/23 |
- |
9-98209594-G-A |
PTCH1 |
c.3944C>T |
p.Pro1315Leu |
Missense |
23/24 |
- |
7-138530264-T-G |
KIAA1549 |
c.5295-1045A>C |
- |
IntronicSNV |
- |
17/19 |
9-2056563-G-A |
SMARCA2 |
c.1174-109G>A |
- |
IntronicSNV |
- |
6/33 |
4-1803307-T-C |
FGFR3 |
c.616-40T>C |
- |
IntronicSNV |
- |
5/17 |
17-29508775-G-A |
NF1 |
c.702G>A |
p.Leu234Leu |
Synonymous |
7/57 |
- |
9-87412892-C-T |
NTRK2 |
c.1397-12565C>T |
- |
IntronicSNV |
- |
14/14 |
7-148543525-A-G |
EZH2 |
c.246+37T>C |
- |
IntronicSNV |
- |
3/19 |
2-47643476-C-G |
MSH2 |
c.984C>G |
p.Ala328Ala |
Synonymous |
6/16 |
- |
9-87373375-C-T |
NTRK2 |
c.1396+6375C>T |
- |
IntronicSNV |
- |
14/14 |
6-26045905-G-A |
HIST1H3C |
c.267G>A |
p.Ala89Ala |
Synonymous |
1/1 |
- |
6-26045905-G-C |
HIST1H3C |
c.267G>C |
p.Ala89Ala |
Synonymous |
1/1 |
- |
9-87419117-A-G |
NTRK2 |
c.1397-6340A>G |
- |
IntronicSNV |
- |
14/14 |
17-29546175-T-C |
NF1 |
c.1641+39T>C |
- |
IntronicSNV |
- |
14/56 |
9-98209594-G-T |
PTCH1 |
c.3944C>A |
p.Pro1315His |
Missense |
23/24 |
- |
2-29416794-G-A |
ALK |
c.4165-6C>T |
- |
IntronicSNV |
- |
28/28 |
6-36198421-T-C |
BRPF3 |
c.*35T>C |
- |
3-UTRSNV |
13/13 |
- |
17-78079554-G-C |
GAA |
c.553G>C |
p.Asp185His |
Missense |
3/20 |
- |
12-49426878-C-T |
KMT2D |
c.11610G>A |
p.Met3870Ile |
Missense |
39/54 |
- |
8-133905999-T-A |
TG |
c.2826T>A |
p.Ile942Ile |
Synonymous |
11/48 |
- |
12-18762450-A-C |
PIK3C2G |
c.3965-19A>C |
- |
IntronicSNV |
- |
29/31 |
12-18762450-A-T |
PIK3C2G |
c.3965-19A>T |
- |
IntronicSNV |
- |
29/31 |
4-1806743-G-A |
FGFR3 |
c.1412+47G>A |
- |
IntronicSNV |
- |
10/17 |
5-131911535-A-T |
RAD50 |
c.280A>T |
p.Ile94Leu |
Missense |
3/25 |
- |
9-87363774-T-C |
NTRK2 |
c.1297-3127T>C |
- |
IntronicSNV |
- |
13/14 |
19-11170677-A-C |
SMARCA4 |
c.4769-44A>C |
- |
IntronicSNV |
- |
33/34 |
19-11170677-A-G |
SMARCA4 |
c.4769-44A>G |
- |
IntronicSNV |
- |
33/34 |
13-53422553-A-T |
PCDH8 |
c.19T>A |
p.Trp7Arg |
Missense |
1/3 |
- |
X-44833841-C-A |
KDM6A |
c.335-70C>A |
- |
IntronicSNV |
- |
3/28 |
X-44833841-C-G |
KDM6A |
c.335-70C>G |
- |
IntronicSNV |
- |
3/28 |
13-53422553-A-G |
PCDH8 |
c.19T>C |
p.Trp7Arg |
Missense |
1/3 |
- |
17-78081445-CC-AG |
GAA |
c.782_783delCCinsAG |
p.Ala261Glu |
Missense |
4/20 |
- |
12-57487814-A-C |
NAB2 |
c.1468+433A>C |
- |
IntronicSNV |
- |
6/6 |
5-112176756-T-A |
APC |
c.5465T>A |
p.Val1822Asp |
Missense |
16/16 |
- |
5-112176756-T-G |
APC |
c.5465T>G |
p.Val1822Gly |
Missense |
16/16 |
- |
7-140492039-T-C |
BRAF |
c.1140+2069A>G |
- |
IntronicSNV |
- |
8/17 |
2-29443749-G-T |
ALK |
c.3516-48C>A |
- |
IntronicSNV |
- |
22/28 |
9-2029199-G-C |
SMARCA2 |
c.177G>C |
p.Thr59Thr |
Synonymous |
2/34 |
- |
4-72631206-G-A |
GC |
c.416C>T |
p.Pro139Leu |
Missense |
4/13 |
- |
17-78091461-C-T |
GAA |
c.2394C>T |
p.Ile798Ile |
Synonymous |
17/20 |
- |
2-29416615-G-A |
ALK |
c.4338C>T |
p.Thr1446Thr |
Synonymous |
29/29 |
- |
12-57488293-A-T |
NAB2 |
c.1469-102A>T |
- |
IntronicSNV |
- |
6/6 |
2-47693788-A-T |
MSH2 |
c.1511-9A>T |
- |
IntronicSNV |
- |
9/15 |
7-116436022-G-A |
MET |
c.4017G>A |
p.Ala1339Ala |
Synonymous |
21/21 |
- |
7-116436022-G-C |
MET |
c.4017G>C |
p.Ala1339Ala |
Synonymous |
21/21 |
- |
2-29755003-C-T |
ALK |
c.953-21G>A |
- |
IntronicSNV |
- |
3/28 |
9-87384534-G-A |
NTRK2 |
c.1396+17534G>A |
- |
IntronicSNV |
- |
14/14 |
4-55151958-T-TC |
PDGFRA |
c.2440-50_2440-49insC |
- |
IntronicInsertion |
- |
17/22 |
5-149447771-G-A |
CSF1R |
c.1626+7C>T |
- |
IntronicSNV |
- |
11/21 |
1-45288989-G-A |
PTCH2 |
c.3183C>T |
p.Pro1061Pro |
Synonymous |
20/22 |
- |
9-87410901-A-T |
NTRK2 |
c.1397-14556A>T |
- |
IntronicSNV |
- |
14/14 |
2-29455267-A-G |
ALK |
c.2535T>C |
p.Gly845Gly |
Synonymous |
15/29 |
- |
1-45288989-G-C |
PTCH2 |
c.3183C>G |
p.Pro1061Pro |
Synonymous |
20/22 |
- |
9-87360102-G-A |
NTRK2 |
c.1296+114G>A |
- |
IntronicSNV |
- |
13/14 |
19-51323501-A-T |
KLK1 |
c.405T>A |
p.Asp135Glu |
Missense |
3/5 |
- |
17-78092496-T-G |
GAA |
c.2691T>G |
p.Ala897Ala |
Synonymous |
19/20 |
- |
5-112176559-T-G |
APC |
c.5268T>G |
p.Ser1756Ser |
Synonymous |
16/16 |
- |
17-78092496-T-A |
GAA |
c.2691T>A |
p.Ala897Ala |
Synonymous |
19/20 |
- |
17-78092496-T-C |
GAA |
c.2691T>C |
p.Ala897Ala |
Synonymous |
19/20 |
- |
2-158626980-C-T |
ACVR1 |
c.690G>A |
p.Glu230Glu |
Synonymous |
7/11 |
- |