11-57296313-G-T |
TIMM10 |
c.150C>A |
p.Cys50* |
Nonsense |
3/3 |
- |
5-82789493-G-A |
VCAN |
c.574G>A |
p.Gly192Arg |
Missense |
4/15 |
- |
8-8235510-G-C |
PRAG1 |
c.409C>G |
p.Arg137Gly |
Missense |
3/6 |
- |
17-74868887-C-T |
MGAT5B |
c.69-46C>T |
- |
IntronicSNV |
- |
1/16 |
16-2168022-C-T |
PKD1 |
c.971G>A |
p.Arg324His |
Missense |
5/46 |
- |
16-2168022-C-A |
PKD1 |
c.971G>T |
p.Arg324Leu |
Missense |
5/46 |
- |
13-32911394-G-C |
BRCA2 |
c.2902G>C |
p.Gly968Arg |
Missense |
11/27 |
- |
17-80042508-G-A |
FASN |
c.4649C>T |
p.Ser1550Leu |
Missense |
27/43 |
- |
4-126373018-C-T |
FAT4 |
c.10847C>T |
p.Thr3616Met |
Missense |
9/17 |
- |
1-153658297-G-T |
NPR1 |
c.1621G>T |
p.Gly541Cys |
Missense |
9/22 |
- |
17-39506824-G-A |
KRT33A |
c.196C>T |
p.Arg66Cys |
Missense |
1/7 |
- |
3-121388135-C-T |
GOLGB1 |
c.9230G>A |
p.Arg3077His |
Missense |
18/22 |
- |
2-240913012-G-A |
NDUFA10 |
c.1000-12409C>T |
- |
IntronicSNV |
- |
9/9 |
12-56092638-G-T |
ITGA7 |
c.854C>A |
p.Ala285Asp |
Missense |
6/25 |
- |
17-37866434-C-A |
ERBB2 |
c.739C>A |
p.Pro247Thr |
Missense |
6/27 |
- |
19-14000196-G-A |
C19orf57 |
c.1473C>T |
p.Asp491Asp |
Synonymous |
6/8 |
- |
7-156752665-G-A |
NOM1 |
c.1429G>A |
p.Val477Met |
Missense |
4/11 |
- |
19-39905650-T-C |
PLEKHG2 |
c.128T>C |
p.Met43Thr |
Missense |
3/19 |
- |
20-1286015-G-A |
SNPH |
c.802G>A |
p.Val268Met |
Missense |
6/6 |
- |
20-1286015-G-T |
SNPH |
c.802G>T |
p.Val268Leu |
Missense |
6/6 |
- |
8-39646261-T-A |
ADAM2 |
c.571-2A>T |
- |
IntronicSNV |
- |
7/20 |
1-204950996-G-A |
NFASC |
c.2318G>A |
p.Arg773Gln |
Missense |
21/30 |
- |
11-62296152-G-A |
AHNAK |
c.342+6323C>T |
- |
IntronicSNV |
- |
4/5 |
11-94322358-G-T |
PIWIL4 |
c.986G>T |
p.Arg329Leu |
Missense |
8/20 |
- |
7-99817878-C-T |
PVRIG |
c.260C>T |
p.Thr87Met |
Missense |
3/6 |
- |
17-7579512-C-G |
TP53 |
c.175G>C |
p.Gly59Arg |
Missense |
4/11 |
- |
10-104359297-G-C |
SUFU |
c.1018G>C |
p.Ala340Pro |
Missense |
8/12 |
- |
17-37864640-AGG-TGT |
ERBB2 |
c.292_294delAGGinsTGT |
p.Arg98Cys |
Missense |
3/27 |
- |
7-99627504-C-G |
ZKSCAN1 |
c.601C>G |
p.Pro201Ala |
Missense |
4/6 |
- |
19-9068115-G-T |
MUC16 |
c.19331C>A |
p.Thr6444Asn |
Missense |
3/84 |
- |
19-9068115-G-A |
MUC16 |
c.19331C>T |
p.Thr6444Ile |
Missense |
3/84 |
- |
17-33324768-A-T |
LIG3 |
c.1835A>T |
p.Glu612Val |
Missense |
12/20 |
- |
12-974498-C-T |
WNK1 |
c.2139+3062C>T |
- |
IntronicSNV |
- |
8/27 |
20-34092583-A-G |
CEP250 |
c.6386A>G |
p.His2129Arg |
Missense |
30/35 |
- |
3-48627789-C-A |
COL7A1 |
c.1907G>T |
p.Gly636Val |
Missense |
15/118 |
- |
14-94849061-C-T |
SERPINA1 |
c.514G>A |
p.Gly172Arg |
Missense |
2/5 |
- |
2-179441932-G-A |
TTN |
c.61426C>T |
p.Pro20476Ser |
Missense |
273/312 |
- |
12-124323006-A-G |
DNAH10 |
c.4552A>G |
p.Met1518Val |
Missense |
28/78 |
- |
13-32910540-C-G |
BRCA2 |
c.2048C>G |
p.Ser683Cys |
Missense |
11/27 |
- |
7-127224437-C-T |
GCC1 |
c.800G>A |
p.Arg267Lys |
Missense |
1/2 |
- |
17-37864748-C-A |
ERBB2 |
c.400C>A |
p.Pro134Thr |
Missense |
3/27 |
- |
12-53453014-G-A |
TNS2 |
c.1589G>A |
p.Arg530Gln |
Missense |
18/29 |
- |
5-131923710-G-A |
RAD50 |
c.980G>A |
p.Arg327His |
Missense |
7/25 |
- |
15-41337221-G-A |
INO80 |
c.2788C>T |
p.Arg930Cys |
Missense |
24/36 |
- |
2-136362513-T-C |
R3HDM1 |
c.98T>C |
p.Ile33Thr |
Missense |
3/26 |
- |
17-7577111-G-A |
TP53 |
c.827C>T |
p.Ala276Val |
Missense |
8/11 |
- |
12-58350618-C-T |
ATP23 |
c.686C>T |
p.Ala229Val |
Missense |
6/6 |
- |
9-117103859-C-A |
AKNA |
c.4021G>T |
p.Ala1341Ser |
Missense |
21/22 |
- |
X-55039960-G-A |
ALAS2 |
c.1559C>T |
p.Pro520Leu |
Missense |
10/11 |
- |
8-23167422-C-T |
LOXL2 |
c.1639G>A |
p.Ala547Thr |
Missense |
10/14 |
- |
X-78010499-G-A |
LPAR4 |
c.133G>A |
p.Val45Ile |
Missense |
2/2 |
- |
13-32907395-A-G |
BRCA2 |
c.1780A>G |
p.Ile594Val |
Missense |
10/27 |
- |
17-74073386-C-A |
GALR2 |
c.1038C>A |
p.Ser346Arg |
Missense |
2/2 |
- |
17-74073386-C-G |
GALR2 |
c.1038C>G |
p.Ser346Arg |
Missense |
2/2 |
- |
3-98001858-A-C |
OR5H2 |
c.127A>C |
p.Thr43Pro |
Missense |
1/1 |
- |
17-7577119-AC-AA |
TP53 |
c.818_819delGTinsAA |
p.Arg273Gln |
Missense |
8/11 |
- |
17-37868267-CGG-TGT |
ERBB2 |
c.988_990delCGGinsTGT |
p.Arg330Cys |
Missense |
8/27 |
- |
10-50824106-C-T |
CHAT |
c.287-442C>T |
- |
IntronicSNV |
- |
1/14 |
10-50824106-C-A |
CHAT |
c.287-442C>A |
- |
IntronicSNV |
- |
1/14 |
12-113596869-C-T |
CFAP73 |
c.*375C>T |
- |
3_prime_UTR_variant |
8/8 |
- |
12-113596869-C-A |
CFAP73 |
c.*375C>A |
- |
3_prime_UTR_variant |
8/8 |
- |
17-72851039-G-A |
GRIN2C |
c.193C>T |
p.Leu65Phe |
Missense |
2/13 |
- |
16-70298927-G-A |
AARS |
c.1426C>T |
p.Arg476Trp |
Missense |
11/21 |
- |
17-3101168-C-T |
OR1A2 |
c.356C>T |
p.Ala119Val |
Missense |
1/1 |
- |
19-1122220-A-G |
SBNO2 |
c.1067T>C |
p.Ile356Thr |
Missense |
11/32 |
- |
19-1122220-A-T |
SBNO2 |
c.1067T>A |
p.Ile356Asn |
Missense |
11/32 |
- |
10-13264107-G-C |
UCMA |
c.413C>G |
p.Thr138Ser |
Missense |
5/5 |
- |
X-16142093-G-C |
GRPR |
c.17G>C |
p.Cys6Ser |
Missense |
1/3 |
- |
1-55559716-C-T |
USP24 |
c.6248G>A |
p.Arg2083Gln |
Missense |
52/68 |
- |
2-75914985-A-T |
GCFC2 |
c.1658T>A |
p.Ile553Asn |
Missense |
11/17 |
- |
5-159686752-C-T |
CCNJL |
c.451G>A |
p.Val151Ile |
Missense |
5/7 |
- |
16-1306923-C-A |
TPSD1 |
c.380C>A |
p.Ala127Glu |
Missense |
3/5 |
- |
13-32910413-TC-CT |
BRCA2 |
c.1921_1922delTCinsCT |
p.Ser641Leu |
Missense |
11/27 |
- |
13-39621897-T-C |
NHLRC3 |
c.878T>C |
p.Ile293Thr |
Missense |
7/7 |
- |
3-48506279-G-A |
ATRIP |
c.2105G>A |
p.Arg702Gln |
Missense |
12/13 |
- |
17-37865645-A-G |
ERBB2 |
c.514A>G |
p.Ile172Val |
Missense |
4/27 |
- |
22-36691696-A-G |
MYH9 |
c.3340T>C |
p.Ser1114Pro |
Missense |
26/41 |
- |
18-2747533-T-C |
SMCHD1 |
c.3815T>C |
p.Ile1272Thr |
Missense |
30/48 |
- |
18-34320679-G-A |
FHOD3 |
c.3112G>A |
p.Ala1038Thr |
Missense |
18/25 |
- |
2-152346522-G-A |
NEB |
c.19799C>T |
p.Thr6600Met |
Missense |
149/150 |
- |
17-5266268-A-G |
RABEP1 |
c.1625A>G |
p.Gln542Arg |
Missense |
10/18 |
- |
5-90016771-G-A |
ADGRV1 |
c.9643G>A |
p.Glu3215Lys |
Missense |
45/90 |
- |
7-44148557-G-T |
AEBP1 |
c.1000G>T |
p.Glu334* |
Nonsense |
7/21 |
- |
12-124907067-C-T |
NCOR2 |
c.1363G>A |
p.Ala455Thr |
Missense |
14/49 |
- |
11-124740144-G-A |
ROBO3 |
c.850G>A |
p.Asp284Asn |
Missense |
5/28 |
- |
1-212799882-A-T |
FAM71A |
c.1663A>T |
p.Lys555* |
Nonsense |
1/1 |
- |
7-6013060-G-C |
PMS2 |
c.2559C>G |
p.Ile853Met |
Missense |
15/15 |
- |
7-6013060-G-A |
PMS2 |
c.2559C>T |
p.Ile853Ile |
Synonymous |
15/15 |
- |
1-152281724-G-A |
FLG |
c.5638C>T |
p.His1880Tyr |
Missense |
3/3 |
- |
4-36189112-T-C |
ARAP2 |
c.1639A>G |
p.Thr547Ala |
Missense |
8/33 |
- |
19-10335552-G-T |
S1PR2 |
c.30C>A |
p.Asn10Lys |
Missense |
2/2 |
- |
4-153896053-G-A |
FHDC1 |
c.1610G>A |
p.Arg537His |
Missense |
11/11 |
- |
1-158621237-G-A |
SPTA1 |
c.3397C>T |
p.Arg1133Trp |
Missense |
24/52 |
- |
13-32367033-C-G |
RXFP2 |
c.1594C>G |
p.Arg532Gly |
Missense |
16/18 |
- |
X-140994997-G-A |
MAGEC1 |
c.1807G>A |
p.Glu603Lys |
Missense |
4/4 |
- |
X-140994997-G-C |
MAGEC1 |
c.1807G>C |
p.Glu603Gln |
Missense |
4/4 |
- |
3-126227314-G-A |
UROC1 |
c.356C>T |
p.Pro119Leu |
Missense |
4/20 |
- |
3-126227314-G-C |
UROC1 |
c.356C>G |
p.Pro119Arg |
Missense |
4/20 |
- |
7-156755781-G-A |
NOM1 |
c.1823G>A |
p.Arg608His |
Missense |
6/11 |
- |
1-169438042-T-G |
SLC19A2 |
c.1063A>C |
p.Lys355Gln |
Missense |
4/6 |
- |
3-151171231-T-C |
IGSF10 |
c.656A>G |
p.Asn219Ser |
Missense |
3/6 |
- |
4-48683105-G-A |
FRYL |
c.-81+3585C>T |
- |
intron_variant |
- |
3/63 |
18-28612233-G-T |
DSC3 |
c.79C>A |
p.Arg27Ser |
Missense |
2/16 |
- |
15-62219337-G-A |
VPS13C |
c.6340C>T |
p.Leu2114Phe |
Missense |
50/83 |
- |
5-131931472-G-T |
RAD50 |
c.2177G>T |
p.Arg726Leu |
Missense |
13/25 |
- |
13-23914588-G-T |
SACS |
c.3427C>A |
p.Gln1143Lys |
Missense |
10/10 |
- |
13-23914588-G-C |
SACS |
c.3427C>G |
p.Gln1143Glu |
Missense |
10/10 |
- |
13-23914588-G-A |
SACS |
c.3427C>T |
p.Gln1143* |
Nonsense |
10/10 |
- |
15-48451979-C-T |
MYEF2 |
c.548G>A |
p.Arg183His |
Missense |
6/17 |
- |
16-1388672-C-T |
BAIAP3 |
c.122C>T |
p.Thr41Met |
Missense |
2/33 |
- |
1-226570748-G-A |
PARP1 |
c.1148C>T |
p.Ser383Phe |
Missense |
8/23 |
- |
1-226570748-G-T |
PARP1 |
c.1148C>A |
p.Ser383Tyr |
Missense |
8/23 |
- |
20-43836960-A-G |
SEMG1 |
c.1022A>G |
p.Gln341Arg |
Missense |
2/3 |
- |
12-30877343-T-C |
CAPRIN2 |
c.1948A>G |
p.Thr650Ala |
Missense |
10/17 |
- |
11-62600554-G-C |
WDR74 |
c.1028C>G |
p.Thr343Arg |
Missense |
12/12 |
- |
11-62600554-G-A |
WDR74 |
c.1028C>T |
p.Thr343Ile |
Missense |
12/12 |
- |
1-155013020-G-A |
DCST1 |
c.451G>A |
p.Val151Met |
Missense |
6/17 |
- |
4-114294537-G-A |
ANK2 |
c.11791G>A |
p.Glu3931Lys |
Missense |
45/46 |
- |
2-203972703-C-T |
NBEAL1 |
c.1654C>T |
p.Arg552* |
Nonsense |
13/55 |
- |
5-74046462-C-T |
GFM2 |
c.461G>A |
p.Arg154Gln |
Missense |
7/21 |
- |
11-118133248-T-A |
MPZL2 |
c.341A>T |
p.Gln114Leu |
Missense |
3/6 |
- |
13-32890616-G-A |
BRCA2 |
c.19G>A |
p.Glu7Lys |
Missense |
2/27 |
- |
3-47908815-G-A |
MAP4 |
c.2987C>T |
p.Ser996Phe |
Missense |
15/19 |
- |
17-37868252-G-A |
ERBB2 |
c.973G>A |
p.Glu325Lys |
Missense |
8/27 |
- |
1-10529326-A-G |
DFFA |
c.206T>C |
p.Ile69Thr |
Missense |
2/6 |
- |
12-117977550-C-T |
KSR2 |
c.1661G>A |
- |
missense_variant |
10/20 |
- |
5-55250787-G-C |
IL6ST |
c.1301C>G |
p.Pro434Arg |
Missense |
11/17 |
- |
1-36211107-C-A |
CLSPN |
c.2911G>T |
p.Gly971Cys |
Missense |
16/25 |
- |
8-95404072-A-C |
RAD54B |
c.1574T>G |
p.Leu525Arg |
Missense |
10/15 |
- |
19-39016135-A-T |
RYR1 |
c.10619A>T |
p.Tyr3540Phe |
Missense |
71/106 |
- |
15-55663993-T-C |
CCPG1 |
c.704A>G |
p.Tyr235Cys |
Missense |
6/8 |
- |
15-55663993-T-A |
CCPG1 |
c.704A>T |
p.Tyr235Phe |
Missense |
6/8 |
- |
15-55663993-T-G |
CCPG1 |
c.704A>C |
p.Tyr235Ser |
Missense |
6/8 |
- |
17-7577120-C-A |
TP53 |
c.818G>T |
p.Arg273Leu |
Missense |
8/11 |
- |
19-55250976-T-G |
KIR2DL3 |
c.58T>G |
p.Trp20Gly |
Missense |
2/8 |
- |
11-118849720-C-G |
FOXR1 |
c.190C>G |
p.Pro64Ala |
Missense |
3/6 |
- |
20-9424868-C-A |
PLCB4 |
c.2822C>A |
p.Ser941Tyr |
Missense |
28/36 |
- |
17-46700458-C-T |
HOXB9 |
c.557G>A |
p.Arg186Gln |
Missense |
2/2 |
- |
8-6389998-T-G |
ANGPT2 |
c.299A>C |
p.Tyr100Ser |
Missense |
2/9 |
- |
1-14142973-C-G |
PRDM2 |
c.5088C>G |
p.Ile1696Met |
Missense |
9/10 |
- |
4-42551048-T-C |
ATP8A1 |
c.1634A>G |
p.Asn545Ser |
Missense |
19/37 |
- |
19-49339590-G-A |
HSD17B14 |
c.79C>T |
p.Arg27Cys |
Missense |
1/9 |
- |
18-7049171-C-T |
LAMA1 |
c.674G>A |
p.Arg225His |
Missense |
5/63 |
- |
9-131267089-C-T |
GLE1 |
c.5C>T |
p.Pro2Leu |
Missense |
1/16 |
- |
10-126683111-C-T |
CTBP2 |
c.707G>A |
p.Ser236Asn |
Missense |
7/11 |
- |
2-128390856-C-T |
MYO7B |
c.5351C>T |
p.Pro1784Leu |
Missense |
39/47 |
- |
2-128390856-C-A |
MYO7B |
c.5351C>A |
p.Pro1784Gln |
Missense |
39/47 |
- |
17-37864626-A-T |
ERBB2 |
c.278A>T |
p.Gln93Leu |
Missense |
3/27 |
- |
18-18533600-T-C |
ROCK1 |
c.4000A>G |
p.Thr1334Ala |
Missense |
32/33 |
- |
6-32032790-G-T |
TNXB |
c.6649C>A |
p.Pro2217Thr |
Missense |
19/44 |
- |
17-7577138-CG-AA |
TP53 |
c.799_800delCGinsAA |
p.Arg267Lys |
Missense |
8/11 |
- |
17-5042763-G-T |
USP6 |
c.1292G>T |
p.Gly431Val |
Missense |
14/30 |
- |
17-5042763-G-A |
USP6 |
c.1292G>A |
p.Gly431Asp |
Missense |
14/30 |
- |
11-1028379-C-T |
MUC6 |
c.1600G>A |
p.Gly534Ser |
Missense |
14/33 |
- |
2-186666113-G-A |
FSIP2 |
c.12080G>A |
- |
missense_variant |
17/23 |
- |
8-105235958-G-A |
RIMS2 |
c.3335-21186G>A |
- |
IntronicSNV |
- |
19/23 |
17-7579536-TC-T |
TP53 |
c.151delG |
p.Glu51Asnfs*72 |
Frameshift |
4/11 |
- |
1-41618297-G-A |
SCMH1 |
c.50C>T |
p.Pro17Leu |
Missense |
4/16 |
- |
3-184612670-C-T |
VPS8 |
c.1955C>T |
p.Ala652Val |
Missense |
22/47 |
- |
1-6534643-C-A |
PLEKHG5 |
c.307G>T |
p.Val103Leu |
Missense |
6/21 |
- |
1-6534643-C-T |
PLEKHG5 |
c.307G>A |
p.Val103Met |
Missense |
6/21 |
- |
3-186330934-A-G |
AHSG |
c.4A>G |
p.Lys2Glu |
Missense |
1/7 |
- |
17-37871567-C-A |
ERBB2 |
c.1177C>A |
p.Gln393Lys |
Missense |
10/27 |
- |
10-126681789-T-G |
CTBP2 |
c.1021A>C |
p.Ile341Leu |
Missense |
9/11 |
- |
10-61028353-C-A |
FAM13C |
c.902G>T |
p.Arg301Leu |
Missense |
8/12 |
- |
3-193185248-G-A |
ATP13A4 |
c.971C>T |
p.Pro324Leu |
Missense |
10/30 |
- |
10-61028353-C-T |
FAM13C |
c.902G>A |
p.Arg301Gln |
Missense |
8/12 |
- |
11-57296313-G-A |
TIMM10 |
c.150C>T |
p.Cys50Cys |
Synonymous |
3/3 |
- |
20-60892518-C-G |
LAMA5 |
c.7394G>C |
p.Arg2465Pro |
Missense |
55/80 |
- |
19-22154829-A-T |
ZNF208 |
c.3007T>A |
p.Cys1003Ser |
Missense |
4/4 |
- |
19-22154829-A-C |
ZNF208 |
c.3007T>G |
p.Cys1003Gly |
Missense |
4/4 |
- |
19-22154829-A-G |
ZNF208 |
c.3007T>C |
p.Cys1003Arg |
Missense |
4/4 |
- |
17-7578408-CCT-CAT |
TP53 |
c.520_522delAGGinsCAT |
p.Arg174His |
Missense |
5/11 |
- |
3-50005373-C-T |
RBM6 |
c.515C>T |
p.Pro172Leu |
Missense |
3/21 |
- |
2-68613814-A-C |
PLEK |
c.653A>C |
p.Tyr218Ser |
Missense |
5/9 |
- |
4-155254540-G-C |
DCHS2 |
c.2820C>G |
p.His940Gln |
Missense |
5/8 |
- |
12-52845481-G-A |
KRT6B |
c.382C>T |
p.Pro128Ser |
Missense |
1/9 |
- |
6-158487551-T-C |
SYNJ2 |
c.1601T>C |
p.Met534Thr |
Missense |
12/27 |
- |
6-158487551-T-A |
SYNJ2 |
c.1601T>A |
p.Met534Lys |
Missense |
12/27 |
- |
12-11285924-C-T |
TAS2R30 |
c.920G>A |
p.Arg307His |
Missense |
1/1 |
- |
17-45214523-A-C |
CDC27 |
c.1926T>G |
p.Asn642Lys |
Missense |
14/19 |
- |
4-157891943-T-C |
PDGFC |
c.113A>G |
p.Gln38Arg |
Missense |
1/6 |
- |
2-239165676-A-C |
PER2 |
c.1952T>G |
p.Leu651Arg |
Missense |
17/23 |
- |
17-76492005-C-A |
DNAH17 |
c.5855G>T |
p.Gly1952Val |
Missense |
38/81 |
- |
7-100677873-C-T |
MUC17 |
c.3176C>T |
p.Thr1059Met |
Missense |
3/13 |
- |
7-100677873-C-G |
MUC17 |
c.3176C>G |
p.Thr1059Arg |
Missense |
3/13 |
- |
1-44422884-C-T |
IPO13 |
c.1289C>T |
p.Thr430Met |
Missense |
6/20 |
- |
20-8737719-G-A |
PLCB1 |
c.2550G>A |
p.Glu850Glu |
Synonymous |
24/32 |
- |
20-8737719-G-T |
PLCB1 |
c.2550G>T |
p.Glu850Asp |
Missense |
24/32 |
- |
17-41955315-G-A |
MPP2 |
c.1519C>T |
p.Arg507Cys |
Missense |
13/13 |
- |
X-49021370-C-T |
MAGIX |
c.449C>T |
p.Pro150Leu |
Missense |
4/6 |
- |
19-12429782-G-C |
ZNF563 |
c.1057C>G |
p.Arg353Gly |
Missense |
4/4 |
- |
1-47737769-C-T |
STIL |
c.2362G>A |
p.Val788Ile |
Missense |
13/17 |
- |
20-33585405-G-A |
MYH7B |
c.3835G>A |
p.Asp1279Asn |
Missense |
32/45 |
- |
8-8185582-C-T |
PRAG1 |
c.2716G>A |
- |
missense_variant |
5/6 |
- |
8-8185582-C-A |
PRAG1 |
c.2716G>T |
- |
missense_variant |
5/6 |
- |
8-8185582-C-G |
PRAG1 |
c.2716G>C |
- |
missense_variant |
5/6 |
- |
2-120020831-C-A |
STEAP3 |
c.1384C>A |
p.Arg462Arg |
Synonymous |
6/6 |
- |
17-45219283-T-C |
CDC27 |
c.1505A>G |
p.Tyr502Cys |
Missense |
12/19 |
- |
17-3955341-G-A |
ZZEF1 |
c.5524C>T |
p.Arg1842Trp |
Missense |
35/55 |
- |
13-32893264-C-T |
BRCA2 |
c.118C>T |
p.Pro40Ser |
Missense |
3/27 |
- |
3-130293232-T-C |
COL6A6 |
c.3410T>C |
p.Ile1137Thr |
Missense |
7/36 |
- |
7-73456961-G-A |
ELN |
c.250G>A |
p.Ala84Thr |
Missense |
6/33 |
- |
1-53569237-G-T |
SLC1A7 |
c.478C>A |
p.Arg160Ser |
Missense |
5/11 |
- |
1-53569237-G-A |
SLC1A7 |
c.478C>T |
p.Arg160Cys |
Missense |
5/11 |
- |
7-73456961-G-T |
ELN |
c.250G>T |
p.Ala84Ser |
Missense |
6/33 |
- |
19-55481394-C-A |
NLRP2 |
c.11C>A |
p.Ser4* |
Nonsense |
2/13 |
- |
1-15893664-C-T |
DNAJC16 |
c.1849C>T |
p.Arg617Cys |
Missense |
14/15 |
- |
1-20639370-G-A |
VWA5B1 |
c.181G>A |
p.Gly61Ser |
Missense |
3/22 |
- |
22-46688704-C-T |
TTC38 |
c.1333C>T |
p.Arg445Cys |
Missense |
14/14 |
- |
22-46688704-C-G |
TTC38 |
c.1333C>G |
p.Arg445Gly |
Missense |
14/14 |
- |
11-108032167-T-C |
NPAT |
c.3646A>G |
p.Asn1216Asp |
Missense |
17/18 |
- |
1-55067043-A-T |
ACOT11 |
c.986A>T |
p.Asp329Val |
Missense |
9/17 |
- |
15-78893644-C-T |
CHRNA3 |
c.1340G>A |
p.Ser447Asn |
Missense |
5/6 |
- |
20-1638293-A-T |
SIRPG |
c.68T>A |
p.Leu23His |
Missense |
1/6 |
- |
9-5765705-G-C |
RIC1 |
c.3044G>C |
p.Ser1015Thr |
Missense |
21/26 |
- |
17-37884085-G-A |
ERBB2 |
c.3556G>A |
p.Ala1186Thr |
Missense |
27/27 |
- |
20-57768655-G-A |
ZNF831 |
c.2581G>A |
p.Asp861Asn |
Missense |
1/5 |
- |
19-56028918-C-T |
SSC5D |
c.3275C>T |
p.Pro1092Leu |
Missense |
14/14 |
- |
8-140744344-G-A |
TRAPPC9 |
c.3451C>T |
p.Arg1151Cys |
Missense |
22/23 |
- |
14-94849061-C-A |
SERPINA1 |
c.514G>T |
p.Gly172Trp |
Missense |
2/5 |
- |
20-57768655-G-C |
ZNF831 |
c.2581G>C |
p.Asp861His |
Missense |
1/5 |
- |
2-74759825-G-A |
HTRA2 |
c.1195G>A |
p.Gly399Ser |
Missense |
7/8 |
- |
17-30216347-C-T |
UTP6 |
c.500G>A |
p.Arg167His |
Missense |
7/19 |
- |
2-172926265-A-G |
METAP1D |
c.80A>G |
p.Tyr27Cys |
Missense |
2/10 |
- |
22-45754606-C-T |
SMC1B |
c.2932G>A |
p.Asp978Asn |
Missense |
19/25 |
- |
17-7577537-CCG-TGT |
TP53 |
c.742_744delCGGinsTGT |
p.Arg248Cys |
Missense |
7/11 |
- |
19-1057343-G-A |
ABCA7 |
c.4795G>A |
p.Val1599Met |
Missense |
35/47 |
- |
1-233314839-C-T |
PCNX2 |
c.3149G>A |
p.Arg1050His |
Missense |
16/34 |
- |
11-831554-CG-CGCG |
CRACR2B |
c.878_879dup |
p.Gly294Argfs*52 |
Frameshift |
8/8 |
- |
1-27875286-T-A |
AHDC1 |
c.3341A>T |
p.Tyr1114Phe |
Missense |
6/7 |
- |
13-32913528-CT-TG |
BRCA2 |
c.5036_5037delCTinsTG |
p.Thr1679Met |
Missense |
11/27 |
- |
19-10395141-G-A |
ICAM1 |
c.988G>A |
p.Val330Met |
Missense |
5/7 |
- |
18-74701943-T-C |
MBP |
c.329A>G |
p.Glu110Gly |
Missense |
3/7 |
- |
17-47246239-G-A |
B4GALNT2 |
c.1472G>A |
p.Arg491His |
Missense |
10/11 |
- |
11-1263137-C-T |
MUC5B |
c.5027C>T |
p.Thr1676Met |
Missense |
31/49 |
- |
12-53696859-C-T |
C12orf10 |
c.371C>T |
p.Pro124Leu |
Missense |
3/7 |
- |
4-106157698-T-C |
TET2 |
c.2599T>C |
p.Tyr867His |
Missense |
3/3 |
- |
11-101832689-A-G |
CEP126 |
c.923A>G |
p.His308Arg |
Missense |
6/11 |
- |
19-49119368-G-A |
RPL18 |
c.389C>T |
p.Ser130Phe |
Missense |
5/7 |
- |
11-101832689-A-T |
CEP126 |
c.923A>T |
p.His308Leu |
Missense |
6/11 |
- |
12-6562262-G-A |
TAPBPL |
c.94G>A |
p.Ala32Thr |
Missense |
2/7 |
- |
15-90992792-G-T |
IQGAP1 |
c.1079G>T |
p.Ser360Ile |
Missense |
11/38 |
- |
7-44150626-C-T |
AEBP1 |
c.1600C>T |
p.Arg534Cys |
Missense |
13/21 |
- |
19-40366142-C-T |
FCGBP |
c.14092G>A |
p.Ala4698Thr |
Missense |
30/36 |
- |
1-41976300-G-A |
HIVEP3 |
c.7043C>T |
p.Pro2348Leu |
Missense |
9/9 |
- |
1-152759989-G-A |
LCE1E |
c.214G>A |
p.Gly72Arg |
Missense |
2/2 |
- |
7-47342713-G-A |
TNS3 |
c.3292C>T |
p.Leu1098Phe |
Missense |
22/31 |
- |
19-42880839-G-C |
MEGF8 |
c.8249G>C |
p.Gly2750Ala |
Missense |
41/41 |
- |
9-134308115-A-G |
PRRC2B |
c.227A>G |
p.Asn76Ser |
Missense |
2/31 |
- |
22-19226874-T-C |
CLTCL1 |
c.719A>G |
p.Asn240Ser |
Missense |
5/33 |
- |
22-38610661-G-A |
MAFF |
c.271G>A |
p.Asp91Asn |
Missense |
3/3 |
- |
11-47303964-A-G |
MADD |
c.1502A>G |
p.Asn501Ser |
Missense |
9/33 |
- |
3-184910078-G-A |
EHHADH |
c.1820C>T |
p.Ser607Phe |
Missense |
7/7 |
- |
2-234113242-C-G |
INPP5D |
c.3365C>G |
- |
missense_variant |
27/28 |
- |
17-21203961-G-A |
MAP2K3 |
c.270G>A |
p.Met90Ile |
Missense |
4/12 |
- |
10-70760271-T-C |
KIF1BP |
c.518T>C |
p.Met173Thr |
Missense |
2/7 |
- |
11-5364175-G-A |
OR51B5 |
c.580C>T |
p.Arg194* |
Nonsense |
5/5 |
- |
7-48237906-G-C |
ABCA13 |
c.236G>C |
p.Gly79Ala |
Missense |
3/62 |
- |
14-96730863-C-G |
BDKRB1 |
c.844C>G |
p.Arg282Gly |
Missense |
3/3 |
- |
13-32910603-CC-C |
BRCA2 |
c.2111delC |
p.Pro704Glnfs*26 |
Frameshift |
11/27 |
- |
17-7579577-G-A |
TP53 |
c.110C>T |
p.Ser37Phe |
Missense |
4/11 |
- |
1-78958451-A-T |
PTGFR |
c.23A>T |
p.Gln8Leu |
Missense |
2/3 |
- |
1-204944417-G-A |
NFASC |
c.1577G>A |
p.Arg526Gln |
Missense |
15/30 |
- |
11-56258341-C-A |
OR5M8 |
c.506G>T |
p.Gly169Val |
Missense |
1/1 |
- |
11-6891726-C-G |
OR10A2 |
c.741C>G |
p.Phe247Leu |
Missense |
1/1 |
- |
15-72119273-G-A |
MYO9A |
c.7295C>T |
p.Ser2432Leu |
Missense |
42/42 |
- |
2-239013472-G-A |
ESPNL |
c.661G>A |
p.Val221Ile |
Missense |
3/9 |
- |
17-7578372-A-T |
TP53 |
c.558T>A |
p.Asp186Glu |
Missense |
5/11 |
- |
19-39062686-G-A |
RYR1 |
c.13774G>A |
p.Asp4592Asn |
Missense |
95/106 |
- |
2-228173636-A-G |
COL4A3 |
c.4484A>G |
p.Gln1495Arg |
Missense |
49/52 |
- |
22-18178965-G-A |
BCL2L13 |
c.445G>A |
p.Gly149Ser |
Missense |
5/7 |
- |
6-148855036-C-T |
SASH1 |
c.1864C>T |
p.Arg622Cys |
Missense |
15/20 |
- |
5-139747113-A-G |
SLC4A9 |
c.2122A>G |
p.Met708Val |
Missense |
15/22 |
- |
17-41139295-G-A |
RUNDC1 |
c.521G>A |
p.Arg174His |
Missense |
2/5 |
- |
17-74073094-G-T |
GALR2 |
c.746G>T |
p.Trp249Leu |
Missense |
2/2 |
- |
1-53580635-C-T |
SLC1A7 |
c.226G>A |
p.Gly76Arg |
Missense |
3/11 |
- |
12-9908952-C-T |
CD69 |
c.128G>A |
p.Cys43Tyr |
Missense |
2/5 |
- |
19-42914668-G-A |
LIPE |
c.1210C>T |
p.Arg404Cys |
Missense |
2/10 |
- |
11-1769085-G-A |
IFITM10 |
c.349C>T |
p.Arg117Trp |
Missense |
2/3 |
- |
13-32900238-T-TA |
BRCA2 |
c.426_427insA |
- |
SpliceAcceptorInsertion |
5/27 |
- |
13-32900238-T-TG |
BRCA2 |
c.426_427insG |
- |
SpliceAcceptorInsertion |
5/27 |
- |
17-7579574-T-C |
TP53 |
c.113A>G |
p.Gln38Arg |
Missense |
4/11 |
- |
8-100844615-A-G |
VPS13B |
c.9424A>G |
p.Ser3142Gly |
Missense |
52/62 |
- |
7-151680202-A-G |
GALNTL5 |
c.500A>G |
p.Glu167Gly |
Missense |
4/9 |
- |
1-227216822-C-T |
CDC42BPA |
c.3620G>A |
p.Arg1207Gln |
Missense |
28/35 |
- |
17-37879812-AG-TT |
ERBB2 |
c.2107_2108delAGinsTT |
p.Ser703Phe |
Missense |
18/27 |
- |
19-54672316-A-G |
TMC4 |
c.551T>C |
p.Met184Thr |
Missense |
4/15 |
- |
13-32907516-CT-AG |
BRCA2 |
c.1901_1902delCTinsAG |
p.Ala634Glu |
Missense |
10/27 |
- |
12-56637583-G-C |
ANKRD52 |
c.2966C>G |
p.Ala989Gly |
Missense |
27/28 |
- |
11-124747839-G-T |
ROBO3 |
c.2993G>T |
p.Gly998Val |
Missense |
21/28 |
- |
3-69087870-C-A |
TMF1 |
c.1996G>T |
p.Glu666* |
Nonsense |
8/17 |
- |
2-43927245-C-T |
PLEKHH2 |
c.1148C>T |
p.Ser383Leu |
Missense |
8/30 |
- |
20-1629967-G-A |
SIRPG |
c.161C>T |
p.Thr54Ile |
Missense |
2/6 |
- |
2-232392957-G-T |
NMUR1 |
c.775C>A |
p.Arg259Arg |
Synonymous |
2/3 |
- |
12-102158877-C-T |
GNPTAB |
c.1818G>A |
p.Met606Ile |
Missense |
13/21 |
- |
11-68181342-T-C |
LRP5 |
c.2689T>C |
p.Ser897Pro |
Missense |
12/23 |
- |
16-2120559-G-T |
TSC2 |
c.1819G>T |
p.Ala607Ser |
Missense |
17/42 |
- |
17-7671351-G-C |
DNAH2 |
c.3809G>C |
p.Arg1270Pro |
Missense |
23/86 |
- |
17-7671351-G-A |
DNAH2 |
c.3809G>A |
p.Arg1270His |
Missense |
23/86 |
- |
19-9020771-G-T |
MUC16 |
c.37331C>A |
p.Ser12444Tyr |
Missense |
20/84 |
- |
21-43161252-G-A |
RIPK4 |
c.2101C>T |
p.Pro701Ser |
Missense |
8/8 |
- |
2-113514767-T-C |
CKAP2L |
c.181A>G |
p.Thr61Ala |
Missense |
4/9 |
- |
7-4153885-C-T |
SDK1 |
c.3802C>T |
p.Arg1268Trp |
Missense |
25/45 |
- |
10-3181157-G-A |
PITRM1 |
c.2859C>T |
p.Ile953Ile |
Synonymous |
25/27 |
- |
11-66619301-C-A |
PC |
c.1942G>T |
p.Ala648Ser |
Missense |
16/23 |
- |
1-235922671-T-G |
LYST |
c.6482A>C |
p.Glu2161Ala |
Missense |
23/53 |
- |
X-48823056-G-C |
KCND1 |
c.1396C>G |
p.Leu466Val |
Missense |
4/6 |
- |
5-118850709-G-A |
HSD17B4 |
c.1471G>A |
p.Ala491Thr |
Missense |
17/24 |
- |
13-32900238-T-TT |
BRCA2 |
c.426dupT |
- |
SpliceAcceptorInsertion |
5/27 |
- |
2-232392957-G-A |
NMUR1 |
c.775C>T |
p.Arg259Trp |
Missense |
2/3 |
- |
12-49373410-T-A |
WNT1 |
c.264T>A |
p.Ser88Arg |
Missense |
2/4 |
- |
19-1818839-G-A |
REXO1 |
c.2768C>T |
p.Ala923Val |
Missense |
9/16 |
- |
4-2941317-G-A |
NOP14 |
c.2255C>T |
p.Pro752Leu |
Missense |
16/19 |
- |
X-15307659-T-A |
ASB11 |
c.559A>T |
p.Arg187Trp |
Missense |
5/7 |
- |
16-72984832-C-G |
ZFHX3 |
c.2752G>C |
p.Gly918Arg |
Missense |
3/10 |
- |
16-72984832-C-T |
ZFHX3 |
c.2752G>A |
p.Gly918Arg |
Missense |
3/10 |
- |
5-5186275-G-A |
ADAMTS16 |
c.874G>A |
p.Val292Met |
Missense |
5/23 |
- |
2-169764285-C-A |
G6PC2 |
c.764C>A |
p.Pro255His |
Missense |
5/5 |
- |
18-74728772-A-G |
MBP |
c.177+16T>C |
- |
IntronicSNV |
- |
1/6 |
11-47663996-C-T |
MTCH2 |
c.22G>A |
p.Val8Met |
Missense |
1/13 |
- |
9-104187894-A-G |
ALDOB |
c.640T>C |
p.Tyr214His |
Missense |
7/9 |
- |
3-130380745-A-G |
COL6A6 |
c.6095A>G |
p.Glu2032Gly |
Missense |
34/36 |
- |
11-63992434-C-T |
TRPT1 |
c.19G>A |
p.Val7Met |
Missense |
3/7 |
- |
10-102089635-C-A |
PKD2L1 |
c.226G>T |
p.Gly76Cys |
Missense |
1/16 |
- |
11-63992434-C-A |
TRPT1 |
c.19G>T |
p.Val7Leu |
Missense |
3/7 |
- |
1-146672745-T-C |
FMO5 |
c.1172A>G |
p.Gln391Arg |
Missense |
7/9 |
- |
1-146672745-T-G |
FMO5 |
c.1172A>C |
p.Gln391Pro |
Missense |
7/9 |
- |
22-19187327-T-C |
CLTCL1 |
c.3791A>G |
p.Gln1264Arg |
Missense |
24/33 |
- |
10-102057293-C-T |
PKD2L1 |
c.802G>A |
p.Gly268Ser |
Missense |
5/16 |
- |
2-238289984-C-G |
COL6A3 |
c.1471G>C |
p.Asp491His |
Missense |
5/44 |
- |
4-187118692-G-A |
CYP4V2 |
c.610G>A |
p.Ala204Thr |
Missense |
5/11 |
- |
1-120468201-A-T |
NOTCH2 |
c.4238T>A |
p.Leu1413His |
Missense |
25/34 |
- |
12-55420584-C-G |
NEUROD4 |
c.361C>G |
p.Gln121Glu |
Missense |
2/2 |
- |
17-72931898-T-C |
OTOP3 |
c.2T>C |
p.Met1Thr |
Missense |
1/7 |
- |
11-66468196-C-T |
SPTBN2 |
c.3374G>A |
p.Arg1125Gln |
Missense |
16/37 |
- |
11-26463582-C-T |
ANO3 |
c.164C>T |
p.Ser55Phe |
Missense |
2/27 |
- |
5-131931472-G-A |
RAD50 |
c.2177G>A |
p.Arg726His |
Missense |
13/25 |
- |
19-5604875-T-C |
SAFB2 |
c.1369A>G |
p.Thr457Ala |
Missense |
10/21 |
- |
12-6952375-G-T |
GNB3 |
c.241G>T |
p.Val81Leu |
Missense |
5/10 |
- |
2-109421358-A-G |
CCDC138 |
c.749A>G |
p.Glu250Gly |
Missense |
7/15 |
- |
17-7578251-TTT-T |
TP53 |
c.598_599delAA |
p.Asn200Phefs*8 |
Frameshift |
6/11 |
- |
11-56258314-C-T |
OR5M8 |
c.533G>A |
p.Cys178Tyr |
Missense |
1/1 |
- |
13-32893421-CAA-C |
BRCA2 |
c.275_276delAA |
p.Gln92Leufs*8 |
Frameshift |
3/27 |
- |
8-17510766-C-G |
MTUS1 |
c.3313G>C |
p.Glu1105Gln |
Missense |
12/15 |
- |
19-17062930-G-A |
CPAMD8 |
c.2498C>T |
p.Ser833Phe |
Missense |
20/42 |
- |
22-45258168-G-A |
PRR5-ARHGAP8 |
c.1388G>A |
- |
missense_variant |
15/15 |
- |
11-121440937-T-C |
SORL1 |
c.3295T>C |
p.Phe1099Leu |
Missense |
23/48 |
- |
2-179482089-C-T |
TTN |
c.40019G>A |
p.Arg13340His |
Missense |
203/312 |
- |
3-195300740-C-G |
APOD |
c.226G>C |
p.Val76Leu |
Missense |
3/5 |
- |
22-43015795-C-T |
CYB5R3 |
c.890G>A |
p.Arg297His |
Missense |
9/9 |
- |
1-52442588-C-T |
RAB3B |
c.202G>A |
p.Glu68Lys |
Missense |
2/5 |
- |
20-10393439-C-A |
MKKS |
c.724G>T |
p.Ala242Ser |
Missense |
3/6 |
- |
19-17088196-C-G |
CPAMD8 |
c.1740G>C |
- |
missense_variant |
15/42 |
- |
12-8990937-C-T |
A2ML1 |
c.861C>T |
p.Asp287Asp |
Synonymous |
9/36 |
- |
12-8990937-C-A |
A2ML1 |
c.861C>A |
p.Asp287Glu |
Missense |
9/36 |
- |
7-4153885-C-A |
SDK1 |
c.3802C>A |
p.Arg1268Arg |
Synonymous |
25/45 |
- |
12-6952375-G-A |
GNB3 |
c.241G>A |
p.Val81Met |
Missense |
5/10 |
- |
13-103701690-G-A |
SLC10A2 |
c.868C>T |
p.Pro290Ser |
Missense |
5/6 |
- |
4-48583490-C-T |
FRYL |
c.2119G>A |
p.Val707Ile |
Missense |
21/64 |
- |
17-37865699-CG-AA |
ERBB2 |
c.568_569delCGinsAA |
p.Arg190Lys |
Missense |
4/27 |
- |
12-56090739-C-T |
ITGA7 |
c.1681G>A |
p.Val561Met |
Missense |
12/25 |
- |
13-32899296-C-T |
BRCA2 |
c.400C>T |
p.Leu134Phe |
Missense |
4/27 |
- |
2-168110876-C-G |
XIRP2 |
c.*240C>G |
- |
IntronicSNV |
11/11 |
- |
2-168110876-C-A |
XIRP2 |
c.*240C>A |
- |
IntronicSNV |
11/11 |
- |
6-75831080-C-T |
COL12A1 |
c.7024G>A |
p.Val2342Ile |
Missense |
44/66 |
- |
10-126683099-G-A |
CTBP2 |
c.719C>T |
p.Ser240Phe |
Missense |
7/11 |
- |
17-5389469-T-C |
DERL2 |
c.13A>G |
p.Ser5Gly |
Missense |
1/7 |
- |
11-17631453-C-T |
OTOG |
c.4642C>T |
p.Leu1548Phe |
Missense |
35/55 |
- |
14-105609400-G-A |
JAG2 |
c.3349C>T |
p.Arg1117Trp |
Missense |
26/26 |
- |
17-37864647-G-A |
ERBB2 |
c.299G>A |
p.Arg100Gln |
Missense |
3/27 |
- |
18-33795564-C-T |
MOCOS |
c.1421C>T |
p.Thr474Met |
Missense |
8/15 |
- |
18-33795564-C-A |
MOCOS |
c.1421C>A |
p.Thr474Lys |
Missense |
8/15 |
- |
1-6635259-C-G |
TAS1R1 |
c.1067C>G |
p.Ser356Cys |
Missense |
3/6 |
- |
11-118531367-A-G |
TREH |
c.983T>C |
p.Ile328Thr |
Missense |
10/16 |
- |
7-2317934-G-C |
SNX8 |
c.101C>G |
p.Pro34Arg |
Missense |
2/11 |
- |
15-48559812-G-A |
SLC12A1 |
c.2209G>A |
p.Ala737Thr |
Missense |
18/27 |
- |
16-68855966-G-T |
CDH1 |
c.1774G>T |
p.Ala592Ser |
Missense |
12/16 |
- |
16-68855966-G-A |
CDH1 |
c.1774G>A |
p.Ala592Thr |
Missense |
12/16 |
- |
1-152190873-G-A |
HRNR |
c.3232C>T |
p.Gln1078* |
Nonsense |
3/3 |
- |
15-86076823-T-G |
AKAP13 |
c.190T>G |
p.Cys64Gly |
Missense |
4/37 |
- |
7-103197603-G-A |
RELN |
c.5618C>T |
p.Thr1873Ile |
Missense |
38/65 |
- |
20-62839672-C-T |
MYT1 |
c.1123C>T |
p.Arg375Trp |
Missense |
7/23 |
- |
12-51739625-C-T |
CELA1 |
c.53G>A |
p.Arg18His |
Missense |
2/8 |
- |
2-220431630-C-T |
OBSL1 |
c.2056G>A |
p.Val686Ile |
Missense |
5/9 |
- |
11-2946317-C-T |
SLC22A18 |
c.1165C>T |
p.Arg389Cys |
Missense |
11/11 |
- |
11-118531367-A-T |
TREH |
c.983T>A |
p.Ile328Asn |
Missense |
10/16 |
- |
8-6389998-T-A |
ANGPT2 |
c.299A>T |
p.Tyr100Phe |
Missense |
2/9 |
- |
7-2317934-G-A |
SNX8 |
c.101C>T |
p.Pro34Leu |
Missense |
2/11 |
- |
11-63884416-G-A |
FLRT1 |
c.677G>A |
p.Arg226His |
Missense |
2/2 |
- |
11-63884416-G-T |
FLRT1 |
c.677G>T |
p.Arg226Leu |
Missense |
2/2 |
- |
8-141672767-T-A |
PTK2 |
c.3012+2249A>T |
- |
IntronicSNV |
- |
31/31 |
8-141672767-T-C |
PTK2 |
c.3012+2249A>G |
- |
IntronicSNV |
- |
31/31 |
1-216465694-G-C |
USH2A |
c.1663C>G |
p.Leu555Val |
Missense |
10/21 |
- |
20-62839672-C-G |
MYT1 |
c.1123C>G |
p.Arg375Gly |
Missense |
7/23 |
- |
12-51739625-C-A |
CELA1 |
c.53G>T |
p.Arg18Leu |
Missense |
2/8 |
- |
5-26885797-T-C |
CDH9 |
c.1808A>G |
p.Glu603Gly |
Missense |
11/12 |
- |
12-52845481-G-C |
KRT6B |
c.382C>G |
p.Pro128Ala |
Missense |
1/9 |
- |
16-72984832-C-A |
ZFHX3 |
c.2752G>T |
p.Gly918Trp |
Missense |
3/10 |
- |
12-124402341-C-T |
DNAH10 |
c.10859C>T |
p.Thr3620Ile |
Missense |
63/78 |
- |
16-89985950-C-T |
MC1R |
c.284C>T |
p.Thr95Met |
Missense |
1/1 |
- |
19-1923155-C-T |
SCAMP4 |
c.482C>T |
p.Ser161Leu |
Missense |
6/7 |
- |
1-55518412-C-A |
PCSK9 |
c.747C>A |
p.Ser249Arg |
Missense |
5/12 |
- |
20-46279918-C-T |
NCOA3 |
c.3832C>T |
p.Pro1278Ser |
Missense |
20/23 |
- |
12-111291255-C-T |
CCDC63 |
c.56C>T |
p.Ser19Leu |
Missense |
3/12 |
- |
4-8620201-C-G |
CPZ |
c.1516C>G |
p.Pro506Ala |
Missense |
9/10 |
- |
1-175325592-C-T |
TNR |
c.2981G>A |
p.Gly994Glu |
Missense |
16/23 |
- |
5-79030623-C-T |
CMYA5 |
c.6035C>T |
p.Ser2012Phe |
Missense |
2/13 |
- |
5-79030623-C-G |
CMYA5 |
c.6035C>G |
p.Ser2012Cys |
Missense |
2/13 |
- |
22-42910722-G-A |
RRP7A |
c.524C>T |
p.Thr175Met |
Missense |
5/7 |
- |
1-175375513-G-A |
TNR |
c.338C>T |
p.Thr113Ile |
Missense |
3/23 |
- |
19-17831206-G-A |
MAP1S |
c.119-539G>A |
- |
IntronicSNV |
- |
1/6 |
9-77377724-C-T |
TRPM6 |
c.3863G>A |
p.Gly1288Glu |
Missense |
26/39 |
- |
19-18120757-G-A |
ARRDC2 |
c.758G>A |
p.Arg253Gln |
Missense |
5/8 |
- |
6-32049177-C-T |
TNXB |
c.4010G>A |
p.Arg1337His |
Missense |
10/44 |
- |
15-78893923-A-G |
CHRNA3 |
c.1061T>C |
p.Met354Thr |
Missense |
5/6 |
- |
17-37864593-G-T |
ERBB2 |
c.245G>T |
p.Gly82Val |
Missense |
3/27 |
- |
2-46707851-G-A |
TMEM247 |
c.425G>A |
p.Arg142Gln |
Missense |
2/3 |
- |
6-32049177-C-G |
TNXB |
c.4010G>C |
p.Arg1337Pro |
Missense |
10/44 |
- |
6-32049177-C-A |
TNXB |
c.4010G>T |
p.Arg1337Leu |
Missense |
10/44 |
- |
3-57893682-G-A |
SLMAP |
c.1471G>A |
p.Glu491Lys |
Missense |
15/21 |
- |
15-41148251-G-A |
SPINT1 |
c.1279G>A |
p.Gly427Ser |
Missense |
9/11 |
- |
1-152193195-G-A |
HRNR |
c.910C>T |
p.Arg304Cys |
Missense |
3/3 |
- |
17-76133356-G-C |
TMC8 |
c.1168G>C |
p.Val390Leu |
Missense |
10/16 |
- |
12-88519133-C-T |
CEP290 |
c.1079G>A |
p.Arg360Gln |
Missense |
13/54 |
- |
X-19398315-C-T |
MAP3K15 |
c.2512G>A |
p.Gly838Ser |
Missense |
19/29 |
- |
19-49409101-G-A |
NUCB1 |
c.335G>A |
p.Arg112Gln |
Missense |
4/13 |
- |
17-37864772-C-T |
ERBB2 |
c.424C>T |
p.Leu142Phe |
Missense |
3/27 |
- |
17-73729629-C-T |
ITGB4 |
c.1513C>T |
p.Arg505Trp |
Missense |
13/40 |
- |
15-89382103-G-C |
ACAN |
c.280G>C |
p.Val94Leu |
Missense |
3/16 |
- |
15-89382103-G-T |
ACAN |
c.280G>T |
p.Val94Leu |
Missense |
3/16 |
- |
16-9857547-C-T |
GRIN2A |
c.3854G>A |
p.Arg1285Lys |
Missense |
14/14 |
- |
22-46760125-A-G |
CELSR1 |
c.8803T>C |
p.Tyr2935His |
Missense |
34/35 |
- |
2-203995185-G-T |
NBEAL1 |
c.3463G>T |
p.Glu1155* |
Nonsense |
24/55 |
- |
13-32900675-G-C |
BRCA2 |
c.556G>C |
p.Ala186Pro |
Missense |
7/27 |
- |
5-167653121-G-T |
TENM2 |
c.5110G>T |
p.Val1704Leu |
Missense |
25/30 |
- |
3-14199940-C-A |
XPC |
c.1443G>T |
p.Lys481Asn |
Missense |
9/16 |
- |
6-10874905-A-C |
GCM2 |
c.844T>G |
p.Tyr282Asp |
Missense |
5/5 |
- |
11-116636108-G-A |
BUD13 |
c.292C>T |
p.Arg98Cys |
Missense |
3/10 |
- |
11-116636108-G-T |
BUD13 |
c.292C>A |
p.Arg98Ser |
Missense |
3/10 |
- |
5-140221071-G-T |
PCDHA1 |
c.2394+52802G>T |
- |
IntronicSNV |
- |
1/3 |
16-9857547-C-A |
GRIN2A |
c.3854G>T |
p.Arg1285Met |
Missense |
14/14 |
- |
3-183818224-G-A |
HTR3E |
c.64G>A |
p.Glu22Lys |
Missense |
1/8 |
- |
13-32907450-A-T |
BRCA2 |
c.1835A>T |
p.Glu612Val |
Missense |
10/27 |
- |
19-11363634-C-G |
DOCK6 |
c.133G>C |
p.Val45Leu |
Missense |
3/48 |
- |
1-197091124-C-T |
ASPM |
c.3791G>A |
p.Arg1264His |
Missense |
16/28 |
- |
4-107847026-C-A |
DKK2 |
c.303G>T |
p.Met101Ile |
Missense |
2/4 |
- |
2-33572566-G-A |
LTBP1 |
c.3989G>A |
p.Arg1330Gln |
Missense |
26/34 |
- |
19-35741258-C-T |
LSR |
c.294C>T |
p.Tyr98Tyr |
Synonymous |
2/9 |
- |
4-6862665-G-T |
KIAA0232 |
c.556G>T |
p.Val186Phe |
Missense |
7/10 |
- |
10-7290605-C-T |
SFMBT2 |
c.877G>A |
p.Ala293Thr |
Missense |
8/21 |
- |
16-2980747-C-T |
FLYWCH1 |
c.659C>T |
p.Pro220Leu |
Missense |
4/10 |
- |
7-151848538-G-C |
KMT2C |
c.12655C>G |
p.Leu4219Val |
Missense |
50/59 |
- |
17-37868669-GG-G |
ERBB2 |
c.1116delG |
p.Ser373Alafs*58 |
Frameshift |
9/27 |
- |
11-6891809-T-C |
OR10A2 |
c.824T>C |
p.Ile275Thr |
Missense |
1/1 |
- |
12-6859407-T-C |
MLF2 |
c.335A>G |
p.Asn112Ser |
Missense |
6/9 |
- |
12-117669852-G-A |
NOS1 |
c.3320C>T |
p.Thr1107Met |
Missense |
22/29 |
- |
15-33954490-T-C |
RYR3 |
c.4759T>C |
p.Ser1587Pro |
Missense |
35/104 |
- |
15-33954490-T-A |
RYR3 |
c.4759T>A |
p.Ser1587Thr |
Missense |
35/104 |
- |
2-179600475-C-T |
TTN |
c.10966G>A |
p.Ala3656Thr |
Missense |
47/312 |
- |
7-4801973-G-C |
FOXK1 |
c.2080G>C |
p.Ala694Pro |
Missense |
9/9 |
- |
7-4801973-G-A |
FOXK1 |
c.2080G>A |
p.Ala694Thr |
Missense |
9/9 |
- |
7-117292931-C-G |
CFTR |
c.3909C>G |
p.Asn1303Lys |
Missense |
24/27 |
- |
12-123339487-C-G |
HIP1R |
c.754C>G |
p.Arg252Gly |
Missense |
9/32 |
- |
8-17882958-C-T |
PCM1 |
c.5930C>T |
p.Ser1977Leu |
Missense |
37/39 |
- |
3-52436832-C-G |
BAP1 |
c.1946G>C |
p.Cys649Ser |
Missense |
15/17 |
- |
19-13993764-G-A |
C19orf57 |
c.1765C>T |
p.Arg589Trp |
Missense |
8/8 |
- |
3-50391167-C-T |
CYB561D2 |
c.661C>T |
p.Gln221* |
Nonsense |
4/4 |
- |
2-233990592-A-C |
INPP5D |
c.487A>C |
p.Thr163Pro |
Missense |
4/28 |
- |
18-72234625-C-A |
CNDP1 |
c.713C>A |
p.Ala238Glu |
Missense |
6/12 |
- |
17-72851210-C-T |
GRIN2C |
c.22G>A |
p.Ala8Thr |
Missense |
2/13 |
- |
19-13059563-G-A |
RAD23A |
c.536G>A |
p.Arg179Gln |
Missense |
5/9 |
- |
6-17602826-G-T |
FAM8A1 |
c.718G>T |
p.Glu240* |
Nonsense |
2/5 |
- |
7-100205706-G-C |
PCOLCE |
c.1330G>C |
p.Ala444Pro |
Missense |
9/9 |
- |
17-7579713-T-C |
TP53 |
c.83A>G |
p.Glu28Gly |
Missense |
3/11 |
- |
3-47307226-A-T |
KIF9 |
c.910T>A |
p.Ser304Thr |
Missense |
9/22 |
- |
8-105080802-G-A |
RIMS2 |
c.3334+53959G>A |
- |
IntronicSNV |
- |
19/23 |
X-48923285-C-T |
CCDC120 |
c.865C>T |
p.Arg289Cys |
Missense |
9/10 |
- |
1-41474343-G-A |
CTPS1 |
c.1406G>A |
p.Gly469Glu |
Missense |
15/19 |
- |
18-72234625-C-T |
CNDP1 |
c.713C>T |
p.Ala238Val |
Missense |
6/12 |
- |
17-38935980-C-T |
KRT27 |
c.818G>A |
p.Arg273Lys |
Missense |
4/8 |
- |
8-98731338-G-A |
MTDH |
c.1442G>A |
p.Arg481His |
Missense |
10/12 |
- |
19-49564639-G-A |
NTF4 |
c.616C>T |
p.Arg206Trp |
Missense |
2/2 |
- |
7-107626756-G-C |
LAMB1 |
c.476C>G |
p.Thr159Ser |
Missense |
6/34 |
- |
22-39884847-G-C |
MGAT3 |
c.1495G>C |
p.Asp499His |
Missense |
2/2 |
- |
1-26189517-C-T |
PAQR7 |
c.814G>A |
p.Gly272Arg |
Missense |
2/2 |
- |
7-44098033-C-T |
DBNL |
c.710C>T |
p.Thr237Met |
Missense |
8/13 |
- |
14-67390981-A-G |
GPHN |
c.800A>G |
p.Asn267Ser |
Missense |
8/23 |
- |
17-27896342-C-G |
TP53I13 |
c.148C>G |
p.Pro50Ala |
Missense |
3/7 |
- |
2-219562237-A-G |
STK36 |
c.2750A>G |
p.Gln917Arg |
Missense |
24/27 |
- |
12-130648429-G-A |
FZD10 |
c.942G>A |
p.Leu314Leu |
Synonymous |
1/1 |
- |
5-89979871-G-A |
ADGRV1 |
c.6133G>A |
p.Gly2045Arg |
Missense |
28/90 |
- |
19-11332560-G-A |
DOCK6 |
c.3517C>T |
p.Arg1173Trp |
Missense |
28/48 |
- |
19-42813971-C-T |
PRR19 |
c.235C>T |
p.His79Tyr |
Missense |
2/3 |
- |
1-185704020-G-A |
HMCN1 |
c.109G>A |
p.Glu37Lys |
Missense |
1/107 |
- |
4-77230712-G-A |
FAM47E-STBD1 |
c.*386G>A |
- |
3-UTRSNV |
7/7 |
- |
2-179600475-C-A |
TTN |
c.10966G>T |
p.Ala3656Ser |
Missense |
47/312 |
- |
14-21549035-C-T |
ARHGEF40 |
c.358C>T |
p.Arg120Cys |
Missense |
13/24 |
- |
4-88235068-G-C |
HSD17B13 |
c.602C>G |
p.Ser201* |
Nonsense |
5/7 |
- |
16-15163979-G-T |
RRN3 |
c.1392C>A |
p.Phe464Leu |
Missense |
14/18 |
- |
1-887938-G-A |
NOC2L |
c.1045C>T |
p.Pro349Ser |
Missense |
10/19 |
- |
13-32912081-A-G |
BRCA2 |
c.3589A>G |
p.Lys1197Glu |
Missense |
11/27 |
- |
14-21549035-C-A |
ARHGEF40 |
c.358C>A |
p.Arg120Ser |
Missense |
13/24 |
- |
7-151902197-C-G |
KMT2C |
c.3955G>C |
p.Asp1319His |
Missense |
25/59 |
- |
10-103343423-G-T |
POLL |
c.907C>A |
p.Pro303Thr |
Missense |
6/9 |
- |
10-103343423-G-A |
POLL |
c.907C>T |
p.Pro303Ser |
Missense |
6/9 |
- |
11-126162665-C-T |
TIRAP |
c.361C>T |
p.Arg121Trp |
Missense |
5/5 |
- |
19-41515255-C-A |
CYP2B6 |
c.777C>A |
p.Ser259Arg |
Missense |
5/9 |
- |
19-1061830-G-A |
ABCA7 |
c.5513G>A |
p.Arg1838His |
Missense |
41/47 |
- |
X-117805080-C-T |
DOCK11 |
c.5171C>T |
p.Pro1724Leu |
Missense |
46/53 |
- |
16-67237476-C-G |
ELMO3 |
c.1940C>G |
- |
missense_variant |
19/20 |
- |
4-1980565-C-G |
NSD2 |
c.4027C>G |
p.Pro1343Ala |
Missense |
24/24 |
- |
12-130647809-G-T |
FZD10 |
c.322G>T |
p.Val108Phe |
Missense |
1/1 |
- |
10-24762833-G-T |
KIAA1217 |
c.1523G>T |
p.Arg508Leu |
Missense |
6/21 |
- |
7-6049010-G-C |
AIMP2 |
c.16G>C |
p.Val6Leu |
Missense |
1/4 |
- |
6-32726794-C-G |
HLA-DQB2 |
c.479G>C |
p.Arg160Pro |
Missense |
3/5 |
- |
17-36091625-G-T |
HNF1B |
c.1006C>A |
p.His336Asn |
Missense |
4/9 |
- |
16-67338357-A-T |
KCTD19 |
c.418T>A |
p.Ser140Thr |
Missense |
3/16 |
- |
16-67338357-A-G |
KCTD19 |
c.418T>C |
p.Ser140Pro |
Missense |
3/16 |
- |
2-204000802-G-C |
NBEAL1 |
c.4129G>C |
p.Gly1377Arg |
Missense |
27/55 |
- |
19-1061830-G-T |
ABCA7 |
c.5513G>T |
p.Arg1838Leu |
Missense |
41/47 |
- |
6-33283570-A-T |
ZBTB22 |
c.1124T>A |
p.Val375Asp |
Missense |
2/2 |
- |
20-60886089-G-C |
LAMA5 |
c.10150C>G |
p.Arg3384Gly |
Missense |
74/80 |
- |
15-78911138-T-C |
CHRNA3 |
c.202A>G |
p.Met68Val |
Missense |
2/6 |
- |
3-48677452-C-T |
CELSR3 |
c.9566G>A |
p.Arg3189Gln |
Missense |
34/35 |
- |
13-32905149-AGA-TGG |
BRCA2 |
c.775_777delAGAinsTGG |
p.Arg259Trp |
Missense |
9/27 |
- |
12-130647809-G-A |
FZD10 |
c.322G>A |
p.Val108Ile |
Missense |
1/1 |
- |
13-32911824-T-C |
BRCA2 |
c.3332T>C |
p.Ile1111Thr |
Missense |
11/27 |
- |
2-97531651-G-A |
SEMA4C |
c.274C>T |
p.Pro92Ser |
Missense |
4/15 |
- |
2-96933097-C-T |
CIAO1 |
c.178C>T |
p.His60Tyr |
Missense |
2/7 |
- |
10-24762833-G-A |
KIAA1217 |
c.1523G>A |
p.Arg508His |
Missense |
6/21 |
- |
15-66621382-G-A |
DIS3L |
c.2027G>A |
p.Arg676His |
Missense |
13/17 |
- |
1-43787367-G-A |
TIE1 |
c.3326G>A |
p.Arg1109His |
Missense |
22/23 |
- |
6-32726794-C-T |
HLA-DQB2 |
c.479G>A |
p.Arg160Gln |
Missense |
3/5 |
- |
5-96112237-A-G |
ERAP1 |
c.2689T>C |
p.Ser897Pro |
Missense |
19/20 |
- |
17-7579867-TGACT-T |
TP53 |
c.45_48delTCAG |
p.Ser15Argfs*28 |
Frameshift |
2/11 |
- |
17-7667554-C-T |
DNAH2 |
c.3299C>T |
p.Ala1100Val |
Missense |
20/86 |
- |
17-7578269-G-A |
TP53 |
c.580C>T |
p.Leu194Phe |
Missense |
6/11 |
- |
9-414863-A-G |
DOCK8 |
c.3612A>G |
p.Lys1204Lys |
Synonymous |
29/48 |
- |
5-72865362-G-T |
UTP15 |
c.409G>T |
p.Val137Leu |
Missense |
5/13 |
- |
2-39239286-G-T |
SOS1 |
c.2371C>A |
p.Leu791Ile |
Missense |
14/23 |
- |
22-38877244-G-C |
KDELR3 |
c.379G>C |
p.Glu127Gln |
Missense |
4/5 |
- |
3-48677191-G-T |
CELSR3 |
c.9827C>A |
p.Pro3276His |
Missense |
34/35 |
- |
3-48677191-G-A |
CELSR3 |
c.9827C>T |
p.Pro3276Leu |
Missense |
34/35 |
- |
2-198949074-C-T |
PLCL1 |
c.833C>T |
p.Ala278Val |
Missense |
2/6 |
- |
7-4051764-A-C |
SDK1 |
c.2317A>C |
p.Lys773Gln |
Missense |
16/45 |
- |
6-148855036-C-A |
SASH1 |
c.1864C>A |
p.Arg622Ser |
Missense |
15/20 |
- |
19-19646458-A-G |
YJEFN3 |
c.664A>G |
p.Ile222Val |
Missense |
6/7 |
- |
1-198718604-G-A |
PTPRC |
c.2998G>A |
p.Asp1000Asn |
Missense |
28/33 |
- |
15-33022994-C-G |
GREM1 |
c.103C>G |
p.Pro35Ala |
Missense |
2/2 |
- |
3-129289978-G-A |
PLXND1 |
c.3505C>T |
p.Arg1169Cys |
Missense |
18/36 |
- |
6-31134122-A-C |
POU5F1 |
c.406-298T>G |
- |
IntronicSNV |
- |
1/4 |
6-31134122-A-G |
POU5F1 |
c.406-298T>C |
- |
IntronicSNV |
- |
1/4 |
1-167038251-G-A |
GPA33 |
c.323C>T |
p.Thr108Ile |
Missense |
3/7 |
- |
17-7579532-TTGTTCAATAT-T |
TP53 |
c.148_157delATTGAACAAT |
p.Ile50Glyfs*70 |
Frameshift |
4/11 |
- |
19-19645843-G-A |
YJEFN3 |
c.319G>A |
p.Ala107Thr |
Missense |
4/7 |
- |
3-195300740-C-T |
APOD |
c.226G>A |
p.Val76Met |
Missense |
3/5 |
- |
3-50368118-C-T |
RASSF1 |
c.464G>A |
p.Arg155His |
Missense |
5/5 |
- |
2-68613814-A-G |
PLEK |
c.653A>G |
p.Tyr218Cys |
Missense |
5/9 |
- |
2-152471058-A-G |
NEB |
c.10604T>C |
p.Ile3535Thr |
Missense |
74/150 |
- |
1-153658297-G-A |
NPR1 |
c.1621G>A |
p.Gly541Ser |
Missense |
9/22 |
- |
22-24709420-C-T |
SPECC1L |
c.293C>T |
p.Ser98Phe |
Missense |
4/17 |
- |
4-134072821-G-A |
PCDH10 |
c.1526G>A |
p.Gly509Asp |
Missense |
1/5 |
- |
2-116066882-T-C |
DPP10 |
c.128T>C |
p.Leu43Ser |
Missense |
2/26 |
- |
17-41143549-C-G |
RUNDC1 |
c.1658C>G |
p.Ser553Cys |
Missense |
5/5 |
- |
1-41283849-T-C |
KCNQ4 |
c.419T>C |
p.Ile140Thr |
Missense |
3/14 |
- |
6-17764896-G-C |
KIF13A |
c.4758C>G |
p.Asp1586Glu |
Missense |
38/38 |
- |
12-53700853-G-A |
C12orf10 |
c.1051G>A |
p.Gly351Ser |
Missense |
7/7 |
- |
17-80203891-C-T |
CSNK1D |
c.1222G>A |
p.Gly408Ser |
Missense |
9/10 |
- |
18-2925359-C-T |
LPIN2 |
c.1801G>A |
p.Glu601Lys |
Missense |
14/20 |
- |
12-88454728-A-G |
CEP290 |
c.6401T>C |
p.Ile2134Thr |
Missense |
47/54 |
- |
2-128389835-G-A |
MYO7B |
c.5186G>A |
p.Arg1729Gln |
Missense |
38/47 |
- |
12-56092638-G-C |
ITGA7 |
c.854C>G |
p.Ala285Gly |
Missense |
6/25 |
- |
12-56092638-G-A |
ITGA7 |
c.854C>T |
p.Ala285Val |
Missense |
6/25 |
- |
3-129289978-G-T |
PLXND1 |
c.3505C>A |
p.Arg1169Ser |
Missense |
18/36 |
- |
16-75276547-T-C |
BCAR1 |
c.454A>G |
p.Thr152Ala |
Missense |
2/7 |
- |
17-76133356-G-A |
TMC8 |
c.1168G>A |
p.Val390Ile |
Missense |
10/16 |
- |
17-75398327-C-T |
SEPT9 |
c.209C>T |
p.Ala70Val |
Missense |
2/11 |
- |
20-34067860-C-T |
CEP250 |
c.2476C>T |
p.Arg826Trp |
Missense |
20/35 |
- |
17-5066289-C-T |
USP6 |
c.3026C>T |
p.Ser1009Phe |
Missense |
25/30 |
- |
17-5066289-C-G |
USP6 |
c.3026C>G |
p.Ser1009Cys |
Missense |
25/30 |
- |
22-44368856-C-T |
SAMM50 |
c.535C>T |
p.Pro179Ser |
Missense |
6/15 |
- |
1-27875286-T-C |
AHDC1 |
c.3341A>G |
p.Tyr1114Cys |
Missense |
6/7 |
- |
13-32906837-A-G |
BRCA2 |
c.1222A>G |
p.Met408Val |
Missense |
10/27 |
- |
22-44368856-C-G |
SAMM50 |
c.535C>G |
p.Pro179Ala |
Missense |
6/15 |
- |
10-16967417-T-C |
CUBN |
c.6469A>G |
p.Asn2157Asp |
Missense |
43/67 |
- |
18-65179687-T-C |
DSEL |
c.2189A>G |
p.Asp730Gly |
Missense |
2/2 |
- |
15-45393430-G-A |
DUOX2 |
c.2894C>T |
p.Ser965Leu |
Missense |
22/34 |
- |
3-52550173-G-A |
STAB1 |
c.4063G>A |
p.Glu1355Lys |
Missense |
38/69 |
- |
2-228884530-G-A |
SPHKAP |
c.1040C>T |
p.Ser347Phe |
Missense |
7/11 |
- |
19-12386869-A-C |
ZNF44 |
c.32T>G |
p.Val11Gly |
Missense |
2/4 |
- |
19-9050232-C-T |
MUC16 |
c.31399G>A |
p.Gly10467Arg |
Missense |
5/84 |
- |
7-154263965-T-G |
DPP6 |
c.591T>G |
p.Asp197Glu |
Missense |
5/26 |
- |
19-50905151-G-A |
POLD1 |
c.433G>A |
p.Ala145Thr |
Missense |
4/27 |
- |
12-6566659-C-T |
TAPBPL |
c.653C>T |
p.Pro218Leu |
Missense |
4/7 |
- |
9-414863-A-C |
DOCK8 |
c.3612A>C |
p.Lys1204Asn |
Missense |
29/48 |
- |
9-414863-A-T |
DOCK8 |
c.3612A>T |
p.Lys1204Asn |
Missense |
29/48 |
- |
5-150922130-T-C |
FAT2 |
c.8558A>G |
p.Glu2853Gly |
Missense |
9/23 |
- |
22-44360335-G-A |
SAMM50 |
c.136G>A |
p.Val46Ile |
Missense |
3/15 |
- |
9-121929828-C-T |
BRINP1 |
c.1820G>A |
p.Arg607Gln |
Missense |
8/8 |
- |
2-176965359-C-T |
HOXD12 |
c.684C>T |
p.Asn228Asn |
Synonymous |
2/2 |
- |
19-12386869-A-T |
ZNF44 |
c.32T>A |
p.Val11Glu |
Missense |
2/4 |
- |
3-50326292-C-T |
IFRD2 |
c.1154G>A |
p.Arg385His |
Missense |
9/12 |
- |
2-170030537-G-C |
LRP2 |
c.10906C>G |
p.Arg3636Gly |
Missense |
56/79 |
- |
13-41767589-G-A |
KBTBD7 |
c.805C>T |
p.His269Tyr |
Missense |
1/1 |
- |
13-32906945-A-G |
BRCA2 |
c.1330A>G |
p.Asn444Asp |
Missense |
10/27 |
- |
3-51673633-G-A |
RAD54L2 |
c.2059G>A |
p.Val687Ile |
Missense |
13/23 |
- |
11-62288492-A-C |
AHNAK |
c.342+13983T>G |
- |
IntronicSNV |
- |
4/5 |
8-145737064-C-T |
RECQL4 |
c.3502G>A |
- |
missense_variant,splice_region_variant |
21/22 |
- |
17-76118721-G-C |
TMC6 |
c.1192C>G |
p.Arg398Gly |
Missense |
10/20 |
- |
17-7577061-C-CGC |
TP53 |
c.877_878insCG |
p.Gly293Alafs*53 |
Frameshift |
8/11 |
- |
17-7579548-G-C |
TP53 |
c.139C>G |
p.Pro47Ala |
Missense |
4/11 |
- |
4-77053804-G-A |
NUP54 |
c.635C>T |
p.Thr212Met |
Missense |
5/11 |
- |
12-123339487-C-T |
HIP1R |
c.754C>T |
p.Arg252Trp |
Missense |
9/32 |
- |
1-183212401-C-T |
LAMC2 |
c.3448C>T |
p.Arg1150Cys |
Missense |
23/23 |
- |
17-76471536-C-T |
DNAH17 |
c.8335G>A |
p.Ala2779Thr |
Missense |
54/81 |
- |
12-63543693-G-T |
AVPR1A |
c.924C>A |
p.Phe308Leu |
Missense |
1/2 |
- |
8-145737064-C-G |
RECQL4 |
c.3502G>C |
- |
missense_variant,splice_region_variant |
21/22 |
- |
5-38486008-T-C |
LIFR |
c.2410A>G |
p.Lys804Glu |
Missense |
17/20 |
- |
1-243589830-A-G |
SDCCAG8 |
c.1955A>G |
p.His652Arg |
Missense |
16/18 |
- |
12-63543693-G-A |
AVPR1A |
c.924C>T |
p.Phe308Phe |
Synonymous |
1/2 |
- |
11-55761734-T-A |
OR5F1 |
c.368A>T |
p.Tyr123Phe |
Missense |
1/1 |
- |
1-153659131-G-A |
NPR1 |
c.1768G>A |
p.Val590Met |
Missense |
11/22 |
- |
17-37863362-CTG-TTT |
ERBB2 |
c.193_195delCTGinsTTT |
p.Leu65Phe |
Missense |
2/27 |
- |
17-37863282-G-T |
ERBB2 |
c.113G>T |
p.Ser38Ile |
Missense |
2/27 |
- |
12-111317756-G-A |
CCDC63 |
c.536G>A |
p.Arg179Gln |
Missense |
6/12 |
- |
9-101830877-G-A |
COL15A1 |
c.3878G>A |
p.Gly1293Asp |
Missense |
41/42 |
- |
19-53268990-C-G |
ZNF600 |
c.2019G>C |
p.Lys673Asn |
Missense |
3/3 |
- |
7-47342790-G-A |
TNS3 |
c.3215C>T |
p.Thr1072Met |
Missense |
22/31 |
- |
1-11298552-T-C |
MTOR |
c.1909A>G |
p.Ile637Val |
Missense |
12/58 |
- |
3-75787194-C-T |
ZNF717 |
c.1580G>A |
p.Arg527Lys |
Missense |
5/5 |
- |
12-11286486-G-A |
TAS2R30 |
c.358C>T |
p.Arg120Cys |
Missense |
1/1 |
- |
2-160826659-C-T |
PLA2R1 |
c.2660G>A |
p.Arg887His |
Missense |
18/27 |
- |
13-32890661-G-A |
BRCA2 |
c.64G>A |
p.Ala22Thr |
Missense |
2/27 |
- |
17-7579911-A-C |
TP53 |
c.2T>G |
p.Met1Arg |
Missense |
2/11 |
- |
18-28612233-G-A |
DSC3 |
c.79C>T |
p.Arg27Cys |
Missense |
2/16 |
- |
2-186669745-C-A |
FSIP2 |
c.15712C>A |
- |
missense_variant |
17/23 |
- |
X-107929290-C-T |
COL4A5 |
c.4228C>T |
p.Arg1410Cys |
Missense |
46/51 |
- |
1-152192121-G-A |
HRNR |
c.1984C>T |
p.Arg662Cys |
Missense |
3/3 |
- |
5-72865362-G-A |
UTP15 |
c.409G>A |
p.Val137Met |
Missense |
5/13 |
- |
5-150502492-A-C |
ANXA6 |
c.1219T>G |
p.Ser407Ala |
Missense |
16/26 |
- |
12-11083515-C-T |
PRH2 |
c.355C>T |
p.Arg119Cys |
Missense |
3/4 |
- |
1-95448643-G-A |
ALG14 |
c.640C>T |
p.Arg214* |
Nonsense |
4/4 |
- |
7-92140266-T-C |
PEX1 |
c.1579A>G |
p.Thr527Ala |
Missense |
8/24 |
- |
7-44610412-C-T |
DDX56 |
c.955G>A |
p.Val319Ile |
Missense |
7/14 |
- |
19-8203392-G-A |
FBN3 |
c.922C>T |
p.Leu308Phe |
Missense |
9/64 |
- |
19-8203392-G-C |
FBN3 |
c.922C>G |
p.Leu308Val |
Missense |
9/64 |
- |
1-26608849-T-C |
UBXN11 |
c.1405A>G |
p.Ser469Gly |
Missense |
15/15 |
- |
15-51675980-A-G |
GLDN |
c.434-2A>G |
- |
IntronicSNV |
- |
3/9 |
7-120979281-G-A |
WNT16 |
c.980G>A |
p.Arg327Gln |
Missense |
4/4 |
- |
16-27761387-G-A |
KIAA0556 |
c.3106G>A |
p.Asp1036Asn |
Missense |
16/28 |
- |
14-105415031-C-G |
AHNAK2 |
c.6757G>C |
p.Gly2253Arg |
Missense |
7/7 |
- |
1-109801345-C-T |
CELSR2 |
c.3602C>T |
p.Pro1201Leu |
Missense |
2/34 |
- |
2-97755924-C-A |
FAHD2B |
c.384G>T |
p.Lys128Asn |
Missense |
3/8 |
- |
2-96950323-C-T |
SNRNP200 |
c.4165G>A |
p.Val1389Ile |
Missense |
31/45 |
- |
17-7578250-T-C |
TP53 |
c.599A>G |
p.Asn200Ser |
Missense |
6/11 |
- |
6-17764793-C-T |
KIF13A |
c.4861G>A |
p.Glu1621Lys |
Missense |
38/38 |
- |
22-23915583-T-C |
IGLL1 |
c.512A>G |
p.Asn171Ser |
Missense |
3/3 |
- |
5-132097207-C-T |
SEPT8 |
c.905G>A |
p.Arg302His |
Missense |
7/10 |
- |
14-105415031-C-A |
AHNAK2 |
c.6757G>T |
p.Gly2253Cys |
Missense |
7/7 |
- |
10-3183003-G-C |
PITRM1 |
c.2650C>G |
p.Leu884Val |
Missense |
24/27 |
- |
22-36900737-C-G |
FOXRED2 |
c.604G>C |
p.Glu202Gln |
Missense |
3/9 |
- |
22-36900737-C-T |
FOXRED2 |
c.604G>A |
p.Glu202Lys |
Missense |
3/9 |
- |
19-1455153-T-C |
APC2 |
c.419T>C |
p.Phe140Ser |
Missense |
5/15 |
- |
8-37794845-C-T |
GOT1L1 |
c.469G>A |
p.Asp157Asn |
Missense |
4/9 |
- |
7-44148557-G-A |
AEBP1 |
c.1000G>A |
p.Glu334Lys |
Missense |
7/21 |
- |
19-48953603-G-A |
GRWD1 |
c.502G>A |
p.Val168Met |
Missense |
4/7 |
- |
19-48953603-G-C |
GRWD1 |
c.502G>C |
p.Val168Leu |
Missense |
4/7 |
- |
17-37873579-G-A |
ERBB2 |
c.1744G>A |
p.Asp582Asn |
Missense |
15/27 |
- |
17-37873690-G-A |
ERBB2 |
c.1855G>A |
p.Glu619Lys |
Missense |
15/27 |
- |
1-117156600-T-C |
IGSF3 |
c.619A>G |
p.Ser207Gly |
Missense |
4/12 |
- |
7-151848538-G-T |
KMT2C |
c.12655C>A |
p.Leu4219Ile |
Missense |
50/59 |
- |
13-32899315-G-C |
BRCA2 |
c.419G>C |
p.Ser140Thr |
Missense |
4/27 |
- |
17-79514675-T-C |
FAAP100 |
c.1433A>G |
p.Gln478Arg |
Missense |
5/9 |
- |
17-7579472-G-A |
TP53 |
c.215C>T |
p.Pro72Leu |
Missense |
4/11 |
- |
1-15655944-G-A |
FHAD1 |
c.1813G>A |
p.Val605Met |
Missense |
14/31 |
- |
1-20073703-C-T |
TMCO4 |
c.566G>A |
p.Arg189His |
Missense |
8/16 |
- |
4-39064647-T-A |
KLHL5 |
c.375T>A |
p.Ser125Arg |
Missense |
2/12 |
- |
19-40580431-C-A |
ZNF780A |
c.1918G>T |
p.Ala640Ser |
Missense |
6/6 |
- |
7-43908448-G-A |
URGCP-MRPS24 |
c.*137C>T |
- |
IntronicSNV |
7/7 |
- |
11-74203256-T-A |
LIPT2 |
c.620A>T |
p.Glu207Val |
Missense |
2/2 |
- |
21-43161672-C-T |
RIPK4 |
c.1681G>A |
p.Val561Met |
Missense |
8/8 |
- |
6-30997667-A-G |
MUC22 |
c.4459A>G |
p.Thr1487Ala |
Missense |
3/5 |
- |
2-239344354-G-A |
ASB1 |
c.194G>A |
p.Arg65His |
Missense |
3/5 |
- |
4-99993787-A-T |
ADH5 |
c.1037T>A |
p.Val346Glu |
Missense |
8/9 |
- |
13-32900646-CA-TG |
BRCA2 |
c.527_528delCAinsTG |
p.Thr176Met |
Missense |
7/27 |
- |
6-43582176-C-A |
POLH |
c.2024C>A |
p.Ser675Tyr |
Missense |
11/11 |
- |
16-71103393-G-T |
HYDIN |
c.1832C>A |
p.Thr611Asn |
Missense |
14/19 |
- |
7-100645834-A-T |
MUC12 |
c.11990A>T |
p.His3997Leu |
Missense |
2/12 |
- |
7-100645834-A-G |
MUC12 |
c.11990A>G |
p.His3997Arg |
Missense |
2/12 |
- |
1-109811522-G-A |
CELSR2 |
c.6523G>A |
p.Asp2175Asn |
Missense |
19/34 |
- |
14-24587680-G-A |
DCAF11 |
c.661G>A |
p.Val221Ile |
Missense |
7/15 |
- |
17-21319792-G-A |
KCNJ12 |
c.1138G>A |
p.Glu380Lys |
Missense |
3/3 |
- |
2-234115357-C-A |
INPP5D |
c.*3C>A |
- |
3_prime_UTR_variant |
28/28 |
- |
2-234115357-C-T |
INPP5D |
c.*3C>T |
- |
3_prime_UTR_variant |
28/28 |
- |
10-126691579-C-T |
CTBP2 |
c.308G>A |
p.Arg103Gln |
Missense |
5/11 |
- |
12-85674211-C-G |
ALX1 |
c.172C>G |
p.Arg58Gly |
Missense |
1/4 |
- |
22-36681327-T-C |
MYH9 |
c.5323A>G |
p.Lys1775Glu |
Missense |
38/41 |
- |
3-137822704-C-T |
DZIP1L |
c.110G>A |
p.Arg37His |
Missense |
2/16 |
- |
9-35740902-C-T |
GBA2 |
c.946G>A |
p.Gly316Arg |
Missense |
5/17 |
- |
14-103998955-G-A |
TRMT61A |
c.368G>A |
p.Arg123His |
Missense |
3/4 |
- |
3-51661637-C-T |
RAD54L2 |
c.208C>T |
p.Arg70Trp |
Missense |
4/23 |
- |
15-86801237-C-T |
AGBL1 |
c.806C>T |
p.Ser269Phe |
Missense |
8/25 |
- |
22-38119380-C-T |
TRIOBP |
c.817C>T |
p.Arg273Cys |
Missense |
7/24 |
- |
7-94989379-C-T |
PON3 |
c.971G>A |
p.Gly324Asp |
Missense |
9/9 |
- |
11-800563-C-T |
PIDD1 |
c.2021G>A |
p.Arg674His |
Missense |
12/16 |
- |
13-39621965-G-T |
NHLRC3 |
c.946G>T |
p.Asp316Tyr |
Missense |
7/7 |
- |
6-152784621-T-C |
SYNE1 |
c.1964A>G |
p.Gln655Arg |
Missense |
19/146 |
- |
12-117693813-C-T |
NOS1 |
c.2532-2254G>A |
- |
IntronicSNV |
- |
16/28 |
10-126683103-C-T |
CTBP2 |
c.715G>A |
p.Val239Ile |
Missense |
7/11 |
- |
13-32913076-C-G |
BRCA2 |
c.4584C>G |
p.Ser1528Arg |
Missense |
11/27 |
- |
22-35802648-C-T |
MCM5 |
c.526C>T |
p.Arg176Cys |
Missense |
5/17 |
- |
3-133368472-T-G |
TOPBP1 |
c.1259A>C |
p.His420Pro |
Missense |
10/28 |
- |
2-182542838-G-T |
NEUROD1 |
c.750C>A |
p.Ser250Arg |
Missense |
2/2 |
- |
15-86253813-C-T |
AKAP13 |
c.5536C>T |
p.Pro1846Ser |
Missense |
19/37 |
- |
3-105378061-G-C |
CBLB |
c.2702C>G |
p.Ala901Gly |
Missense |
19/19 |
- |
20-43836956-A-G |
SEMG1 |
c.1018A>G |
p.Ser340Gly |
Missense |
2/3 |
- |
13-32910701-G-A |
BRCA2 |
c.2209G>A |
p.Ala737Thr |
Missense |
11/27 |
- |
14-105411680-C-G |
AHNAK2 |
c.10108G>C |
p.Gly3370Arg |
Missense |
7/7 |
- |
7-8196585-G-A |
ICA1 |
c.804+161C>T |
- |
IntronicSNV |
- |
8/13 |
2-30987041-G-A |
CAPN13 |
c.656C>T |
p.Ala219Val |
Missense |
6/23 |
- |
11-76888673-C-T |
MYO7A |
c.2266C>T |
p.Arg756Trp |
Missense |
19/49 |
- |
13-32910417-TC-T |
BRCA2 |
c.1925delC |
p.Ser642Leufs*2 |
Frameshift |
11/27 |
- |
2-172935641-T-C |
METAP1D |
c.547T>C |
p.Tyr183His |
Missense |
6/10 |
- |
16-20439162-G-A |
ACSM5 |
c.974G>A |
p.Arg325Gln |
Missense |
7/14 |
- |
6-74481186-C-T |
CD109 |
c.1709C>T |
p.Pro570Leu |
Missense |
15/33 |
- |
17-72943253-G-A |
OTOP3 |
c.1303G>A |
p.Val435Met |
Missense |
6/7 |
- |
17-37868666-T-A |
ERBB2 |
c.1113T>A |
p.Phe371Leu |
Missense |
9/27 |
- |
17-37856541-C-T |
ERBB2 |
c.50C>T |
p.Pro17Leu |
Missense |
1/27 |
- |
9-124072992-G-A |
GSN |
c.535G>A |
p.Val179Met |
Missense |
4/17 |
- |
4-90872862-C-G |
MMRN1 |
c.3225C>G |
p.Asn1075Lys |
Missense |
7/8 |
- |
1-45480232-T-A |
UROD |
c.758T>A |
p.Leu253Gln |
Missense |
7/10 |
- |
X-140993674-G-C |
MAGEC1 |
c.484G>C |
p.Val162Leu |
Missense |
4/4 |
- |
3-188327604-C-G |
LPP |
c.1085C>G |
p.Ala362Gly |
Missense |
6/11 |
- |
17-7577146-TAG-TTT |
TP53 |
c.790_792delCTAinsTTT |
p.Leu264Phe |
Missense |
8/11 |
- |
1-15642964-G-C |
FHAD1 |
c.1260+1G>C |
- |
IntronicSNV |
- |
9/30 |
1-15642964-G-A |
FHAD1 |
c.1260+1G>A |
- |
IntronicSNV |
- |
9/30 |
3-49365221-G-C |
USP4 |
c.258C>G |
p.His86Gln |
Missense |
3/21 |
- |
1-26142081-G-A |
SELENON |
c.1645G>A |
p.Val549Met |
Missense |
13/13 |
- |
12-11286486-G-T |
TAS2R30 |
c.358C>A |
p.Arg120Ser |
Missense |
1/1 |
- |
11-17470143-A-G |
ABCC8 |
c.1252T>C |
p.Cys418Arg |
Missense |
8/39 |
- |
4-187088399-G-T |
FAM149A |
c.1358G>T |
p.Gly453Val |
Missense |
13/14 |
- |
19-549018-G-A |
GZMM |
c.445G>A |
p.Gly149Ser |
Missense |
4/5 |
- |
X-140993674-G-T |
MAGEC1 |
c.484G>T |
p.Val162Phe |
Missense |
4/4 |
- |
2-242078172-A-G |
PASK |
c.638T>C |
p.Val213Ala |
Missense |
5/18 |
- |
13-32903582-AGA-TGT |
BRCA2 |
c.634_636delAGAinsTGT |
p.Arg212Cys |
Missense |
8/27 |
- |
19-47879329-A-G |
DHX34 |
c.2456A>G |
p.Asn819Ser |
Missense |
11/17 |
- |
11-118133248-T-G |
MPZL2 |
c.341A>C |
p.Gln114Pro |
Missense |
3/6 |
- |
1-156926306-C-T |
ARHGEF11 |
c.1577G>A |
p.Arg526His |
Missense |
19/41 |
- |
10-72468469-G-A |
ADAMTS14 |
c.805G>A |
p.Asp269Asn |
Missense |
4/22 |
- |
13-32911391-CTA-TTT |
BRCA2 |
c.2899_2901delCTAinsTTT |
p.Leu967Phe |
Missense |
11/27 |
- |
20-33588193-G-C |
MYH7B |
c.5005G>C |
p.Gly1669Arg |
Missense |
39/45 |
- |
3-50327010-T-C |
IFRD2 |
c.839A>G |
p.Tyr280Cys |
Missense |
7/12 |
- |
11-2192950-C-T |
TH |
c.67G>A |
p.Ala23Thr |
Missense |
1/13 |
- |
20-33588193-G-A |
MYH7B |
c.5005G>A |
p.Gly1669Ser |
Missense |
39/45 |
- |
X-17750294-T-A |
NHS |
c.4603T>A |
p.Ser1535Thr |
Missense |
8/8 |
- |
11-94322358-G-A |
PIWIL4 |
c.986G>A |
p.Arg329Gln |
Missense |
8/20 |
- |
16-3023158-G-A |
PKMYT1 |
c.1369C>T |
p.Arg457Trp |
Missense |
8/9 |
- |
15-86801237-C-G |
AGBL1 |
c.806C>G |
p.Ser269Cys |
Missense |
8/25 |
- |
7-121758435-T-A |
AASS |
c.613A>T |
p.Ile205Leu |
Missense |
6/24 |
- |
7-121758435-T-C |
AASS |
c.613A>G |
p.Ile205Val |
Missense |
6/24 |
- |
17-37863291-C-T |
ERBB2 |
c.122C>T |
p.Thr41Ile |
Missense |
2/27 |
- |
13-32890607-G-C |
BRCA2 |
c.10G>C |
p.Gly4Arg |
Missense |
2/27 |
- |
13-32890607-G-A |
BRCA2 |
c.10G>A |
p.Gly4Arg |
Missense |
2/27 |
- |
2-207557965-G-T |
DYTN |
c.914C>A |
p.Ala305Glu |
Missense |
9/12 |
- |
18-44113283-G-A |
LOXHD1 |
c.4217C>T |
p.Ala1406Val |
Missense |
28/40 |
- |
17-74898683-C-G |
MGAT5B |
c.376C>G |
p.Gln126Glu |
Missense |
4/17 |
- |
2-207557965-G-A |
DYTN |
c.914C>T |
p.Ala305Val |
Missense |
9/12 |
- |
12-77191233-A-G |
ZDHHC17 |
c.113A>G |
p.His38Arg |
Missense |
2/17 |
- |
9-418173-A-G |
DOCK8 |
c.3806A>G |
p.Asn1269Ser |
Missense |
30/48 |
- |
17-61769706-G-A |
MAP3K3 |
c.1579G>A |
p.Val527Ile |
Missense |
15/16 |
- |
11-116631542-G-C |
BUD13 |
c.1163C>G |
p.Ser388Cys |
Missense |
5/10 |
- |
1-22846721-G-A |
ZBTB40 |
c.3001G>A |
p.Val1001Ile |
Missense |
14/18 |
- |
19-52091068-G-A |
ZNF175 |
c.1484G>A |
p.Arg495Gln |
Missense |
5/5 |
- |
2-187702100-G-T |
ZSWIM2 |
c.676C>A |
p.Leu226Met |
Missense |
5/9 |
- |
6-148865088-C-T |
SASH1 |
c.2482C>T |
p.Pro828Ser |
Missense |
18/20 |
- |
2-179528377-T-A |
TTN |
c.31484-595A>T |
- |
IntronicSNV |
- |
152/311 |
13-32893276-TC-GG |
BRCA2 |
c.130_131delTCinsGG |
p.Ser44Gly |
Missense |
3/27 |
- |
2-168110876-C-T |
XIRP2 |
c.*240C>T |
- |
IntronicSNV |
11/11 |
- |
3-121448088-G-T |
GOLGB1 |
c.349C>A |
p.Gln117Lys |
Missense |
4/22 |
- |
3-185209413-C-T |
TMEM41A |
c.707G>A |
p.Gly236Glu |
Missense |
5/5 |
- |
3-185209413-C-A |
TMEM41A |
c.707G>T |
p.Gly236Val |
Missense |
5/5 |
- |
3-112648099-T-A |
CD200R1 |
c.458A>T |
p.Tyr153Phe |
Missense |
4/8 |
- |
11-66392434-T-G |
RBM14-RBM4 |
c.337+7906T>G |
- |
IntronicSNV |
- |
1/2 |
16-23695377-A-C |
PLK1 |
c.1003A>C |
p.Ser335Arg |
Missense |
5/10 |
- |
14-38064109-C-T |
FOXA1 |
c.69G>A |
p.Gln23Gln |
Synonymous |
1/2 |
- |
14-38064109-C-G |
FOXA1 |
c.69G>C |
p.Gln23His |
Missense |
1/2 |
- |
4-72363294-A-C |
SLC4A4 |
c.1919A>C |
p.Asn640Thr |
Missense |
13/23 |
- |
8-37689051-C-T |
ADGRA2 |
c.1043C>T |
p.Thr348Ile |
Missense |
8/19 |
- |
17-7578181-G-A |
TP53 |
c.668C>T |
p.Pro223Leu |
Missense |
6/11 |
- |
13-32914305-G-T |
BRCA2 |
c.5813G>T |
p.Gly1938Val |
Missense |
11/27 |
- |
1-152281724-G-C |
FLG |
c.5638C>G |
p.His1880Asp |
Missense |
3/3 |
- |
1-152281724-G-T |
FLG |
c.5638C>A |
p.His1880Asn |
Missense |
3/3 |
- |
5-112228668-C-T |
REEP5 |
c.352-5788G>A |
- |
IntronicSNV |
- |
3/4 |
6-149997810-C-T |
LATS1 |
c.2657G>A |
p.Arg886Gln |
Missense |
6/8 |
- |
12-80735883-G-T |
OTOGL |
c.5179G>T |
p.Asp1727Tyr |
Missense |
43/58 |
- |
19-9578370-C-T |
ZNF560 |
c.1253G>A |
p.Gly418Asp |
Missense |
10/10 |
- |
9-125281999-C-T |
OR1J4 |
c.580C>T |
p.Leu194Phe |
Missense |
1/1 |
- |
16-20429546-C-G |
ACSM5 |
c.370C>G |
p.Arg124Gly |
Missense |
3/14 |
- |
19-58005262-G-A |
ZNF419 |
c.1337G>A |
p.Arg446Gln |
Missense |
5/5 |
- |
21-43524191-G-T |
UMODL1 |
c.1513G>T |
p.Val505Leu |
Missense |
9/23 |
- |
8-37796297-G-C |
GOT1L1 |
c.218C>G |
p.Thr73Ser |
Missense |
2/9 |
- |
17-37676297-G-A |
CDK12 |
c.3052G>A |
p.Asp1018Asn |
Missense |
11/14 |
- |
21-43524191-G-A |
UMODL1 |
c.1513G>A |
p.Val505Met |
Missense |
9/23 |
- |
21-43524191-G-C |
UMODL1 |
c.1513G>C |
p.Val505Leu |
Missense |
9/23 |
- |
17-74868836-A-G |
MGAT5B |
c.69-97A>G |
- |
IntronicSNV |
- |
1/16 |
7-48352767-T-C |
ABCA13 |
c.9620T>C |
p.Leu3207Pro |
Missense |
25/62 |
- |
10-103827050-C-T |
HPS6 |
c.1819C>T |
p.Arg607* |
Nonsense |
1/1 |
- |
11-65631998-C-T |
MUS81 |
c.1090C>T |
p.Arg364Trp |
Missense |
11/16 |
- |
10-103827050-C-A |
HPS6 |
c.1819C>A |
p.Arg607Arg |
Synonymous |
1/1 |
- |
17-39135066-C-T |
KRT40 |
c.1186G>A |
p.Glu396Lys |
Missense |
8/9 |
- |
7-47342713-G-C |
TNS3 |
c.3292C>G |
p.Leu1098Val |
Missense |
22/31 |
- |
17-39135066-C-A |
KRT40 |
c.1186G>T |
p.Glu396* |
Nonsense |
8/9 |
- |
3-75787546-G-C |
ZNF717 |
c.1228C>G |
p.Leu410Val |
Missense |
5/5 |
- |
X-75649236-A-T |
MAGEE1 |
c.913A>T |
p.Ser305Cys |
Missense |
1/1 |
- |
17-7579910-C-T |
TP53 |
c.3G>A |
p.Met1Ile |
Missense |
2/11 |
- |
5-89918423-A-G |
ADGRV1 |
c.463A>G |
p.Ile155Val |
Missense |
5/90 |
- |
16-70296256-C-A |
AARS |
c.1664G>T |
p.Ser555Ile |
Missense |
12/21 |
- |
2-130878058-C-G |
POTEF |
c.31G>C |
p.Ala11Pro |
Missense |
3/17 |
- |
19-9020771-G-A |
MUC16 |
c.37331C>T |
p.Ser12444Phe |
Missense |
20/84 |
- |
10-3181157-G-C |
PITRM1 |
c.2859C>G |
p.Ile953Met |
Missense |
25/27 |
- |
13-32906539-T-G |
BRCA2 |
c.924T>G |
p.Phe308Leu |
Missense |
10/27 |
- |
13-32906539-T-A |
BRCA2 |
c.924T>A |
p.Phe308Leu |
Missense |
10/27 |
- |
20-40743945-A-G |
PTPRT |
c.2993T>C |
p.Val998Ala |
Missense |
22/31 |
- |
11-118918750-C-A |
HYOU1 |
c.2419G>T |
p.Gly807Trp |
Missense |
21/26 |
- |
1-208061255-T-C |
CD34 |
c.*194A>G |
- |
3-UTRSNV |
8/8 |
- |
7-123119922-G-A |
IQUB |
c.1337C>T |
p.Ala446Val |
Missense |
8/13 |
- |
7-117232223-C-A |
CFTR |
c.2002C>A |
p.Arg668Ser |
Missense |
14/27 |
- |
17-45214592-T-G |
CDC27 |
c.1857A>C |
p.Leu619Phe |
Missense |
14/19 |
- |
19-8206844-A-G |
FBN3 |
c.719T>C |
p.Ile240Thr |
Missense |
7/64 |
- |
6-32084337-T-G |
ATF6B |
c.1793A>C |
p.His598Pro |
Missense |
17/18 |
- |
6-32084337-T-A |
ATF6B |
c.1793A>T |
p.His598Leu |
Missense |
17/18 |
- |
11-18387397-G-A |
GTF2H1 |
c.1628G>A |
p.Arg543His |
Missense |
15/15 |
- |
1-26608849-T-A |
UBXN11 |
c.1405A>T |
p.Ser469Cys |
Missense |
15/15 |
- |
11-64108754-A-C |
CCDC88B |
c.401A>C |
p.Glu134Ala |
Missense |
5/27 |
- |
5-118850709-G-T |
HSD17B4 |
c.1471G>T |
p.Ala491Ser |
Missense |
17/24 |
- |
17-7579908-T-C |
TP53 |
c.5A>G |
p.Glu2Gly |
Missense |
2/11 |
- |
2-109421358-A-T |
CCDC138 |
c.749A>T |
p.Glu250Val |
Missense |
7/15 |
- |
1-197073196-G-A |
ASPM |
c.5185C>T |
p.Arg1729Trp |
Missense |
18/28 |
- |
19-17062930-G-T |
CPAMD8 |
c.2498C>A |
p.Ser833Tyr |
Missense |
20/42 |
- |
1-169701771-C-A |
SELE |
c.406G>T |
p.Ala136Ser |
Missense |
3/14 |
- |
13-32906995-T-G |
BRCA2 |
c.1380T>G |
p.Asn460Lys |
Missense |
10/27 |
- |
2-215657112-C-T |
BARD1 |
c.273G>A |
p.Trp91* |
Nonsense |
3/11 |
- |
17-56679798-A-G |
TEX14 |
c.1508T>C |
p.Leu503Pro |
Missense |
12/33 |
- |
10-95093661-G-C |
MYOF |
c.4573C>G |
p.Arg1525Gly |
Missense |
42/54 |
- |
8-17611381-C-G |
MTUS1 |
c.1936G>C |
p.Glu646Gln |
Missense |
2/15 |
- |
3-39142562-G-T |
GORASP1 |
c.380C>A |
p.Ala127Asp |
Missense |
4/9 |
- |
14-68250147-C-T |
ZFYVE26 |
c.3722G>A |
p.Arg1241Gln |
Missense |
21/42 |
- |
11-55563609-A-C |
OR5D14 |
c.578A>C |
p.Asp193Ala |
Missense |
1/1 |
- |
11-55563609-A-G |
OR5D14 |
c.578A>G |
p.Asp193Gly |
Missense |
1/1 |
- |
17-18152710-C-T |
FLII |
c.1789G>A |
p.Asp597Asn |
Missense |
15/30 |
- |
17-18152710-C-G |
FLII |
c.1789G>C |
p.Asp597His |
Missense |
15/30 |
- |
2-136107663-T-C |
ZRANB3 |
c.482A>G |
p.Tyr161Cys |
Missense |
5/21 |
- |
13-32907140-A-T |
BRCA2 |
c.1525A>T |
p.Arg509* |
Nonsense |
10/27 |
- |
1-45798269-T-C |
MUTYH |
c.658A>G |
p.Ile220Val |
Missense |
8/16 |
- |
9-78790143-G-A |
PCSK5 |
c.1900+98G>A |
- |
IntronicSNV |
- |
14/36 |
1-14107658-A-T |
PRDM2 |
c.3368A>T |
p.Asp1123Val |
Missense |
8/10 |
- |
1-24192103-C-G |
FUCA1 |
c.402G>C |
p.Leu134Phe |
Missense |
2/8 |
- |
2-242066103-G-A |
PASK |
c.2227C>T |
p.Leu743Phe |
Missense |
10/18 |
- |
3-69987012-C-A |
MITF |
c.394C>A |
p.Gln132Lys |
Missense |
3/10 |
- |
19-11332560-G-T |
DOCK6 |
c.3517C>A |
p.Arg1173Arg |
Synonymous |
28/48 |
- |
7-128441249-G-A |
CCDC136 |
c.356G>A |
p.Arg119His |
Missense |
4/18 |
- |
11-418414-G-C |
ANO9 |
c.2306C>G |
p.Pro769Arg |
Missense |
23/23 |
- |
11-418414-G-A |
ANO9 |
c.2306C>T |
p.Pro769Leu |
Missense |
23/23 |
- |
19-39996089-A-G |
DLL3 |
c.1091A>G |
p.Asn364Ser |
Missense |
6/8 |
- |
17-36091625-G-A |
HNF1B |
c.1006C>T |
p.His336Tyr |
Missense |
4/9 |
- |
17-36091625-G-C |
HNF1B |
c.1006C>G |
p.His336Asp |
Missense |
4/9 |
- |
9-80943928-A-C |
PSAT1 |
c.901A>C |
p.Asn301His |
Missense |
8/8 |
- |
4-1980565-C-T |
NSD2 |
c.4027C>T |
p.Pro1343Ser |
Missense |
24/24 |
- |
5-70900270-T-A |
MCCC2 |
c.599T>A |
p.Ile200Asn |
Missense |
6/17 |
- |
17-5389469-T-G |
DERL2 |
c.13A>C |
p.Ser5Arg |
Missense |
1/7 |
- |
10-126686605-C-T |
CTBP2 |
c.493G>A |
p.Val165Met |
Missense |
6/11 |
- |
22-45132831-G-A |
PRR5 |
c.844G>A |
p.Glu282Lys |
Missense |
9/9 |
- |
10-27687437-C-A |
PTCHD3 |
c.2090G>T |
p.Trp697Leu |
Missense |
4/4 |
- |
10-126686605-C-A |
CTBP2 |
c.493G>T |
p.Val165Leu |
Missense |
6/11 |
- |
12-52842643-C-T |
KRT6B |
c.1186G>A |
p.Asp396Asn |
Missense |
6/9 |
- |
5-145551522-T-C |
LARS |
c.245A>G |
p.Lys82Arg |
Missense |
4/32 |
- |
19-40928814-C-T |
SERTAD1 |
c.640G>A |
p.Glu214Lys |
Missense |
2/2 |
- |
19-549171-C-T |
GZMM |
c.598C>T |
p.Gln200* |
Nonsense |
4/5 |
- |
17-7578550-GA-CT |
TP53 |
c.379_380delTCinsCT |
p.Ser127Leu |
Missense |
5/11 |
- |
11-64037602-G-C |
BAD |
c.*79C>G |
- |
3-UTRSNV |
4/4 |
- |
11-64037602-G-A |
BAD |
c.*79C>T |
- |
3-UTRSNV |
4/4 |
- |
19-2408436-G-A |
TMPRSS9 |
c.823G>A |
p.Val275Met |
Missense |
7/17 |
- |
2-120020831-C-T |
STEAP3 |
c.1384C>T |
p.Arg462Trp |
Missense |
6/6 |
- |
3-15259048-A-G |
CAPN7 |
c.328A>G |
p.Ile110Val |
Missense |
3/21 |
- |
2-74643215-C-T |
C2orf81 |
c.181G>A |
p.Asp61Asn |
Missense |
2/4 |
- |
7-121682694-T-C |
PTPRZ1 |
c.5834T>C |
p.Val1945Ala |
Missense |
22/30 |
- |
7-105660850-A-G |
CDHR3 |
c.1685A>G |
p.Glu562Gly |
Missense |
13/19 |
- |
17-48559521-G-A |
RSAD1 |
c.544G>A |
p.Ala182Thr |
Missense |
4/9 |
- |
2-179452501-T-C |
TTN |
c.55831A>G |
p.Ser18611Gly |
Missense |
255/312 |
- |
14-45605405-G-A |
FANCM |
c.171G>A |
p.Leu57Leu |
Synonymous |
1/23 |
- |
14-45605405-G-C |
FANCM |
c.171G>C |
p.Leu57Phe |
Missense |
1/23 |
- |
1-201356205-C-T |
LAD1 |
c.284G>A |
p.Arg95Gln |
Missense |
3/10 |
- |
14-64687258-A-T |
SYNE2 |
c.19964A>T |
p.Gln6655Leu |
Missense |
111/116 |
- |
19-2799757-C-T |
THOP1 |
c.557C>T |
p.Thr186Met |
Missense |
5/13 |
- |
17-56694937-T-A |
TEX14 |
c.598A>T |
p.Ile200Phe |
Missense |
6/33 |
- |
2-203991333-T-G |
NBEAL1 |
c.2952T>G |
p.Ile984Met |
Missense |
21/55 |
- |
13-103701690-G-T |
SLC10A2 |
c.868C>A |
p.Pro290Thr |
Missense |
5/6 |
- |
3-133368472-T-C |
TOPBP1 |
c.1259A>G |
p.His420Arg |
Missense |
10/28 |
- |
13-32906966-TAG-T |
BRCA2 |
c.1351_1352delAG |
p.Ser451Profs*10 |
Frameshift |
10/27 |
- |
19-2424194-C-T |
TMPRSS9 |
c.2554C>T |
p.Arg852Cys |
Missense |
14/17 |
- |
17-7637938-A-G |
DNAH2 |
c.890A>G |
p.Lys297Arg |
Missense |
7/86 |
- |
7-100176362-C-T |
LRCH4 |
c.646G>A |
p.Val216Ile |
Missense |
5/18 |
- |
15-90984854-T-G |
IQGAP1 |
c.766T>G |
p.Ser256Ala |
Missense |
8/38 |
- |
17-7579556-A-G |
TP53 |
c.131T>C |
p.Met44Thr |
Missense |
4/11 |
- |
5-79024949-G-C |
CMYA5 |
c.361G>C |
p.Val121Leu |
Missense |
2/13 |
- |
1-17668888-A-G |
PADI4 |
c.926A>G |
p.Tyr309Cys |
Missense |
8/16 |
- |
X-49021639-C-T |
MAGIX |
c.619C>T |
p.Arg207Trp |
Missense |
5/6 |
- |
10-32103189-C-T |
ARHGAP12 |
c.1817G>A |
p.Arg606His |
Missense |
13/19 |
- |
17-10404653-C-G |
MYH1 |
c.3512G>C |
p.Arg1171Pro |
Missense |
27/40 |
- |
3-39142562-G-A |
GORASP1 |
c.380C>T |
p.Ala127Val |
Missense |
4/9 |
- |
3-98001858-A-G |
OR5H2 |
c.127A>G |
p.Thr43Ala |
Missense |
1/1 |
- |
9-130116658-C-T |
GARNL3 |
c.1728C>T |
p.Asp576Asp |
Synonymous |
19/28 |
- |
9-130116658-C-G |
GARNL3 |
c.1728C>G |
p.Asp576Glu |
Missense |
19/28 |
- |
11-802020-C-T |
PIDD1 |
c.1247G>A |
p.Arg416Gln |
Missense |
7/16 |
- |
3-39142562-G-C |
GORASP1 |
c.380C>G |
p.Ala127Gly |
Missense |
4/9 |
- |
1-208072436-G-C |
CD34 |
c.398C>G |
p.Thr133Ser |
Missense |
3/8 |
- |
1-208072436-G-A |
CD34 |
c.398C>T |
p.Thr133Ile |
Missense |
3/8 |
- |
1-208072436-G-T |
CD34 |
c.398C>A |
p.Thr133Asn |
Missense |
3/8 |
- |
3-53769508-G-A |
CACNA1D |
c.2789G>A |
p.Arg930His |
Missense |
21/49 |
- |
17-37879573-C-A |
ERBB2 |
c.1948C>A |
p.Pro650Thr |
Missense |
17/27 |
- |
6-32008500-G-A |
CYP21A2 |
c.1174G>A |
p.Ala392Thr |
Missense |
9/10 |
- |
6-32008500-G-C |
CYP21A2 |
c.1174G>C |
p.Ala392Pro |
Missense |
9/10 |
- |
19-9076006-A-G |
MUC16 |
c.11440T>C |
p.Ser3814Pro |
Missense |
3/84 |
- |
12-2797746-G-A |
CACNA1C |
c.5918G>A |
p.Arg1973Gln |
Missense |
46/47 |
- |
16-89865598-G-A |
FANCA |
c.869C>T |
p.Ser290Phe |
Missense |
10/43 |
- |
2-202957848-T-C |
KIAA2012 |
c.625T>C |
p.Tyr209His |
Missense |
4/24 |
- |
13-32911202-G-C |
BRCA2 |
c.2710G>C |
p.Gly904Arg |
Missense |
11/27 |
- |
16-89865598-G-C |
FANCA |
c.869C>G |
p.Ser290Cys |
Missense |
10/43 |
- |
16-89865598-G-T |
FANCA |
c.869C>A |
p.Ser290Tyr |
Missense |
10/43 |
- |
4-108969836-C-T |
LEF1 |
c.*78G>A |
- |
3_prime_UTR_variant |
11/11 |
- |
5-50125738-A-G |
PARP8 |
c.2176A>G |
p.Met726Val |
Missense |
22/26 |
- |
3-137822704-C-A |
DZIP1L |
c.110G>T |
p.Arg37Leu |
Missense |
2/16 |
- |
1-152190873-G-T |
HRNR |
c.3232C>A |
p.Gln1078Lys |
Missense |
3/3 |
- |
17-37864713-C-G |
ERBB2 |
c.365C>G |
p.Pro122Arg |
Missense |
3/27 |
- |
19-49691898-G-A |
TRPM4 |
c.1744G>A |
p.Gly582Ser |
Missense |
13/25 |
- |
14-66975271-C-G |
GPHN |
c.26C>G |
p.Thr9Ser |
Missense |
1/23 |
- |
2-190606152-A-C |
ANKAR |
c.3785A>C |
p.Tyr1262Ser |
Missense |
20/23 |
- |
2-190606152-A-G |
ANKAR |
c.3785A>G |
p.Tyr1262Cys |
Missense |
20/23 |
- |
17-45214600-A-G |
CDC27 |
c.1849T>C |
p.Phe617Leu |
Missense |
14/19 |
- |
14-64408645-A-G |
SYNE2 |
c.280A>G |
p.Ile94Val |
Missense |
5/116 |
- |
16-89254538-G-A |
CDH15 |
c.823G>A |
p.Gly275Arg |
Missense |
7/14 |
- |
16-2983209-G-A |
FLYWCH1 |
c.872G>A |
p.Arg291Gln |
Missense |
5/10 |
- |
16-2983209-G-C |
FLYWCH1 |
c.872G>C |
p.Arg291Pro |
Missense |
5/10 |
- |
X-19433335-G-A |
MAP3K15 |
c.1480C>T |
p.Arg494Cys |
Missense |
10/29 |
- |
X-19433335-G-T |
MAP3K15 |
c.1480C>A |
p.Arg494Ser |
Missense |
10/29 |
- |
17-37868649-G-C |
ERBB2 |
c.1096G>C |
p.Gly366Arg |
Missense |
9/27 |
- |
2-198948717-A-G |
PLCL1 |
c.476A>G |
p.Asp159Gly |
Missense |
2/6 |
- |
17-71196139-C-G |
COG1 |
c.1049C>G |
p.Thr350Arg |
Missense |
5/14 |
- |
17-10404653-C-T |
MYH1 |
c.3512G>A |
p.Arg1171Gln |
Missense |
27/40 |
- |
17-71196139-C-T |
COG1 |
c.1049C>T |
p.Thr350Met |
Missense |
5/14 |
- |
X-1557993-G-C |
ASMTL |
c.270C>G |
p.Ile90Met |
Missense |
3/13 |
- |
6-161022107-C-A |
LPA |
c.2969G>T |
p.Arg990Leu |
Missense |
19/39 |
- |
4-187078745-A-G |
FAM149A |
c.601A>G |
p.Lys201Glu |
Missense |
8/14 |
- |
17-76554204-C-T |
DNAH17 |
c.2164G>A |
p.Gly722Ser |
Missense |
14/81 |
- |
17-10401968-G-A |
MYH1 |
c.4156C>T |
p.Arg1386Cys |
Missense |
30/40 |
- |
19-11106914-A-G |
SMARCA4 |
c.1619A>G |
p.Lys540Arg |
Missense |
10/35 |
- |
11-55761605-A-G |
OR5F1 |
c.497T>C |
p.Leu166Ser |
Missense |
1/1 |
- |
17-77705076-C-T |
ENPP7 |
c.175C>T |
p.Arg59* |
Nonsense |
1/6 |
- |
17-76554204-C-G |
DNAH17 |
c.2164G>C |
p.Gly722Arg |
Missense |
14/81 |
- |
5-159686752-C-A |
CCNJL |
c.451G>T |
p.Val151Phe |
Missense |
5/7 |
- |
19-55263830-A-T |
KIR2DL3 |
c.885A>T |
p.Glu295Asp |
Missense |
8/8 |
- |
21-43557725-G-A |
UMODL1 |
c.3952G>A |
p.Glu1318Lys |
Missense |
22/23 |
- |
X-50438789-C-T |
SHROOM4 |
c.266G>A |
p.Arg89Lys |
Missense |
2/9 |
- |
16-1306923-C-T |
TPSD1 |
c.380C>T |
p.Ala127Val |
Missense |
3/5 |
- |
3-127327309-G-A |
MCM2 |
c.1186G>A |
p.Ala396Thr |
Missense |
7/16 |
- |
1-223178133-C-A |
DISP1 |
c.3394C>A |
p.Arg1132Arg |
Synonymous |
10/10 |
- |
1-223178133-C-T |
DISP1 |
c.3394C>T |
p.Arg1132Trp |
Missense |
10/10 |
- |
15-65703439-C-A |
IGDCC4 |
c.340G>T |
p.Val114Phe |
Missense |
2/20 |
- |
2-105859066-C-T |
GPR45 |
c.751C>T |
p.Arg251Trp |
Missense |
1/1 |
- |
2-105859066-C-G |
GPR45 |
c.751C>G |
p.Arg251Gly |
Missense |
1/1 |
- |
4-126238305-C-A |
FAT4 |
c.739C>A |
p.Pro247Thr |
Missense |
1/17 |
- |
8-124089460-C-G |
TBC1D31 |
c.187C>G |
p.Gln63Glu |
Missense |
2/22 |
- |
4-126238305-C-T |
FAT4 |
c.739C>T |
p.Pro247Ser |
Missense |
1/17 |
- |
10-91177152-C-G |
IFIT5 |
c.196C>G |
p.Gln66Glu |
Missense |
2/2 |
- |
1-233136167-C-T |
PCNX2 |
c.5212G>A |
p.Ala1738Thr |
Missense |
30/34 |
- |
13-32907114-GT-AG |
BRCA2 |
c.1499_1500delGTinsAG |
p.Gly500Glu |
Missense |
10/27 |
- |
13-32893406-CT-TG |
BRCA2 |
c.260_261delCTinsTG |
p.Thr87Met |
Missense |
3/27 |
- |
19-8320554-C-T |
CERS4 |
c.355C>T |
p.Arg119Trp |
Missense |
5/12 |
- |
4-1746456-C-A |
TACC3 |
c.2348C>A |
p.Ala783Asp |
Missense |
15/16 |
- |
7-151078993-C-T |
WDR86 |
c.937G>A |
p.Gly313Ser |
Missense |
5/6 |
- |
19-49685865-G-A |
TRPM4 |
c.1294G>A |
p.Ala432Thr |
Missense |
11/25 |
- |
19-49685865-G-T |
TRPM4 |
c.1294G>T |
p.Ala432Ser |
Missense |
11/25 |
- |
20-43653713-C-T |
STK4 |
c.1247C>T |
p.Pro416Leu |
Missense |
10/11 |
- |
9-140637904-A-G |
EHMT1 |
c.905A>G |
p.Lys302Arg |
Missense |
5/27 |
- |
20-46264116-G-T |
NCOA3 |
c.1163G>T |
p.Arg388Ile |
Missense |
11/23 |
- |
11-432044-G-A |
ANO9 |
c.361C>T |
p.Arg121* |
Nonsense |
5/23 |
- |
14-24587680-G-C |
DCAF11 |
c.661G>C |
p.Val221Leu |
Missense |
7/15 |
- |
7-117232223-C-T |
CFTR |
c.2002C>T |
p.Arg668Cys |
Missense |
14/27 |
- |
1-11733363-C-A |
FBXO6 |
c.539C>A |
p.Thr180Asn |
Missense |
5/6 |
- |
19-40895808-A-G |
HIPK4 |
c.2T>C |
p.Met1Thr |
Missense |
1/4 |
- |
2-85571211-G-T |
RETSAT |
c.1444C>A |
p.Arg482Arg |
Synonymous |
9/11 |
- |
2-85571211-G-A |
RETSAT |
c.1444C>T |
p.Arg482Trp |
Missense |
9/11 |
- |
11-105880425-T-A |
MSANTD4 |
c.875A>T |
p.Asp292Val |
Missense |
3/3 |
- |
7-103767338-G-A |
ORC5 |
c.1265C>T |
p.Thr422Met |
Missense |
14/14 |
- |
5-11732304-C-T |
CTNND2 |
c.118G>A |
p.Gly40Arg |
Missense |
2/22 |
- |
20-44048782-C-T |
PIGT |
c.688C>T |
p.Arg230Cys |
Missense |
6/12 |
- |
2-162851539-C-T |
DPP4 |
c.2131G>A |
p.Val711Ile |
Missense |
25/26 |
- |
7-48278988-C-T |
ABCA13 |
c.1048C>T |
p.Arg350* |
Nonsense |
9/62 |
- |
10-52595978-A-G |
A1CF |
c.460T>C |
p.Ser154Pro |
Missense |
6/13 |
- |
6-46659721-G-T |
TDRD6 |
c.3856G>T |
p.Asp1286Tyr |
Missense |
1/4 |
- |
7-100647976-C-G |
MUC12 |
c.14132C>G |
p.Ser4711Cys |
Missense |
2/12 |
- |
7-100683213-C-T |
MUC17 |
c.8516C>T |
p.Thr2839Ile |
Missense |
3/13 |
- |
19-49898459-A-G |
CCDC155 |
c.245A>G |
p.Asp82Gly |
Missense |
4/20 |
- |
7-149422444-G-A |
KRBA1 |
c.1165G>A |
p.Ala389Thr |
Missense |
10/18 |
- |
17-37868193-C-G |
ERBB2 |
c.914C>G |
p.Ser305Cys |
Missense |
8/27 |
- |
9-131397116-C-T |
WDR34 |
c.1066G>A |
p.Gly356Ser |
Missense |
7/9 |
- |
6-31727989-A-G |
MSH5 |
c.1808A>G |
p.Lys603Arg |
Missense |
19/25 |
- |
X-132351308-G-A |
TFDP3 |
c.980C>T |
p.Pro327Leu |
Missense |
1/1 |
- |
18-74091461-T-C |
ZNF516 |
c.2609A>G |
p.His870Arg |
Missense |
4/8 |
- |
21-43543057-C-T |
UMODL1 |
c.2944C>T |
p.Arg982Trp |
Missense |
17/23 |
- |
20-60892518-C-T |
LAMA5 |
c.7394G>A |
p.Arg2465Gln |
Missense |
55/80 |
- |
21-43543057-C-A |
UMODL1 |
c.2944C>A |
p.Arg982Arg |
Synonymous |
17/23 |
- |
1-152329370-A-G |
FLG2 |
c.892T>C |
p.Cys298Arg |
Missense |
3/3 |
- |
3-13916570-C-T |
WNT7A |
c.172G>A |
p.Ala58Thr |
Missense |
2/4 |
- |
17-79514982-G-C |
FAAP100 |
c.1404-278C>G |
- |
IntronicSNV |
- |
4/8 |
1-20669689-G-A |
VWA5B1 |
c.2429G>A |
p.Gly810Asp |
Missense |
16/22 |
- |
22-42910722-G-T |
RRP7A |
c.524C>A |
p.Thr175Lys |
Missense |
5/7 |
- |
2-116066887-G-C |
DPP10 |
c.133G>C |
p.Val45Leu |
Missense |
2/26 |
- |
19-49339623-C-T |
HSD17B14 |
c.46G>A |
p.Gly16Arg |
Missense |
1/9 |
- |
X-129147028-G-A |
BCORL1 |
c.280G>A |
p.Asp94Asn |
Missense |
3/12 |
- |
17-10401968-G-C |
MYH1 |
c.4156C>G |
p.Arg1386Gly |
Missense |
30/40 |
- |
19-4525845-C-G |
PLIN5 |
c.521-1G>C |
- |
IntronicSNV |
- |
5/7 |
6-109274354-C-T |
ARMC2 |
c.1715C>T |
p.Thr572Met |
Missense |
13/18 |
- |
3-15478047-G-A |
EAF1 |
c.725G>A |
p.Arg242Gln |
Missense |
5/6 |
- |
9-117103859-C-T |
AKNA |
c.4021G>A |
p.Ala1341Thr |
Missense |
21/22 |
- |
3-108189571-C-T |
MYH15 |
c.1417G>A |
p.Asp473Asn |
Missense |
14/42 |
- |
3-185214748-G-T |
TMEM41A |
c.141C>A |
p.Asp47Glu |
Missense |
2/5 |
- |
6-20490428-G-T |
E2F3 |
c.772G>T |
p.Asp258Tyr |
Missense |
7/7 |
- |
8-17823611-G-A |
PCM1 |
c.2959G>A |
p.Val987Met |
Missense |
19/39 |
- |
2-43010497-C-G |
HAAO |
c.307G>C |
p.Val103Leu |
Missense |
4/10 |
- |
13-32907326-TT-T |
BRCA2 |
c.1711delT |
p.Ser571Leufs*2 |
Frameshift |
10/27 |
- |
7-151945051-A-G |
KMT2C |
c.2468T>C |
p.Ile823Thr |
Missense |
14/59 |
- |
7-151945051-A-T |
KMT2C |
c.2468T>A |
p.Ile823Asn |
Missense |
14/59 |
- |
16-2980747-C-G |
FLYWCH1 |
c.659C>G |
p.Pro220Arg |
Missense |
4/10 |
- |
12-11285924-C-G |
TAS2R30 |
c.920G>C |
p.Arg307Pro |
Missense |
1/1 |
- |
12-18891703-C-A |
CAPZA3 |
c.501C>A |
p.Asn167Lys |
Missense |
1/1 |
- |
11-47303165-A-G |
MADD |
c.1330A>G |
p.Asn444Asp |
Missense |
8/33 |
- |
2-27353418-G-A |
ABHD1 |
c.1024G>A |
p.Ala342Thr |
Missense |
9/9 |
- |
X-140993320-A-G |
MAGEC1 |
c.130A>G |
p.Ser44Gly |
Missense |
4/4 |
- |
17-7576876-C-T |
TP53 |
c.970G>A |
p.Asp324Asn |
Missense |
9/11 |
- |
X-47041224-C-T |
RBM10 |
c.1652C>T |
p.Pro551Leu |
Missense |
15/24 |
- |
11-7663588-G-A |
PPFIBP2 |
c.1577G>A |
p.Arg526Gln |
Missense |
17/24 |
- |
X-153693126-C-T |
PLXNA3 |
c.1958C>T |
p.Pro653Leu |
Missense |
10/33 |
- |
17-7577121-G-A |
TP53 |
c.817C>T |
p.Arg273Cys |
Missense |
8/11 |
- |
12-117724018-T-G |
NOS1 |
c.1181A>C |
p.Asp394Ala |
Missense |
6/29 |
- |
17-7578228-A-T |
TP53 |
c.621T>A |
p.Asp207Glu |
Missense |
6/11 |
- |
17-7578228-A-C |
TP53 |
c.621T>G |
p.Asp207Glu |
Missense |
6/11 |
- |
20-30729619-G-C |
TM9SF4 |
c.449G>C |
p.Arg150Pro |
Missense |
5/18 |
- |
13-32911284-GA-AC |
BRCA2 |
c.2792_2793delGAinsAC |
p.Gly931Asp |
Missense |
11/27 |
- |
11-47663986-C-T |
MTCH2 |
c.32G>A |
p.Gly11Asp |
Missense |
1/13 |
- |
13-32913666-C-G |
BRCA2 |
c.5174C>G |
p.Ala1725Gly |
Missense |
11/27 |
- |
2-240913012-G-C |
NDUFA10 |
c.1000-12409C>G |
- |
IntronicSNV |
- |
9/9 |
1-36225997-G-T |
CLSPN |
c.1525C>A |
p.Arg509Arg |
Synonymous |
8/25 |
- |
19-42931022-C-T |
LIPE |
c.280G>A |
p.Ala94Thr |
Missense |
1/10 |
- |
X-1557993-G-A |
ASMTL |
c.270C>T |
p.Ile90Ile |
Synonymous |
3/13 |
- |
12-111291255-C-G |
CCDC63 |
c.56C>G |
p.Ser19Trp |
Missense |
3/12 |
- |
12-111291255-C-A |
CCDC63 |
c.56C>A |
p.Ser19* |
Nonsense |
3/12 |
- |
1-36225997-G-A |
CLSPN |
c.1525C>T |
p.Arg509Trp |
Missense |
8/25 |
- |
1-197111665-G-A |
ASPM |
c.1717C>T |
p.Arg573Trp |
Missense |
3/28 |
- |
1-197111665-G-T |
ASPM |
c.1717C>A |
p.Arg573Arg |
Synonymous |
3/28 |
- |
2-186653566-A-T |
FSIP2 |
c.1703A>T |
- |
missense_variant |
16/23 |
- |
1-242042364-A-C |
EXO1 |
c.1828A>C |
p.Ser610Arg |
Missense |
11/14 |
- |
5-170338070-T-C |
RANBP17 |
c.692T>C |
p.Ile231Thr |
Missense |
7/28 |
- |
4-170189999-C-T |
SH3RF1 |
c.365G>A |
p.Arg122Gln |
Missense |
2/12 |
- |
19-50393043-C-T |
IL4I1 |
c.1654G>A |
p.Val552Met |
Missense |
10/10 |
- |
19-49967718-A-T |
ALDH16A1 |
c.1376A>T |
p.Asp459Val |
Missense |
11/17 |
- |
17-10401968-G-T |
MYH1 |
c.4156C>A |
p.Arg1386Ser |
Missense |
30/40 |
- |
9-131267089-C-G |
GLE1 |
c.5C>G |
p.Pro2Arg |
Missense |
1/16 |
- |
9-124081138-G-A |
GSN |
c.1324G>A |
p.Asp442Asn |
Missense |
9/17 |
- |
1-156933011-G-A |
ARHGEF11 |
c.1124C>T |
p.Ala375Val |
Missense |
13/41 |
- |
15-42145593-C-T |
SPTBN5 |
c.10033G>A |
p.Asp3345Asn |
Missense |
59/68 |
- |
22-39715102-T-G |
RPL3 |
c.3+498A>C |
- |
IntronicSNV |
- |
1/9 |
22-39715102-T-C |
RPL3 |
c.3+498A>G |
- |
IntronicSNV |
- |
1/9 |
22-39715102-T-A |
RPL3 |
c.3+498A>T |
- |
IntronicSNV |
- |
1/9 |
20-60901932-C-T |
LAMA5 |
c.5203G>A |
p.Val1735Met |
Missense |
39/80 |
- |
1-1277534-G-A |
DVL1 |
c.365C>T |
p.Pro122Leu |
Missense |
4/15 |
- |
1-1277534-G-C |
DVL1 |
c.365C>G |
p.Pro122Arg |
Missense |
4/15 |
- |
10-3183003-G-A |
PITRM1 |
c.2650C>T |
p.Leu884Phe |
Missense |
24/27 |
- |
12-57858576-C-A |
GLI1 |
c.314C>A |
p.Ser105Tyr |
Missense |
4/12 |
- |
4-170189999-C-G |
SH3RF1 |
c.365G>C |
p.Arg122Pro |
Missense |
2/12 |
- |
2-179441295-T-C |
TTN |
c.61972A>G |
p.Ser20658Gly |
Missense |
274/312 |
- |
4-1980565-C-A |
NSD2 |
c.4027C>A |
p.Pro1343Thr |
Missense |
24/24 |
- |
17-37868631-A-T |
ERBB2 |
c.1078A>T |
p.Asn360Tyr |
Missense |
9/27 |
- |
1-167384979-T-C |
POU2F1 |
c.2233T>C |
p.Ser745Pro |
Missense |
16/16 |
- |
9-131267089-C-A |
GLE1 |
c.5C>A |
p.Pro2Gln |
Missense |
1/16 |
- |
1-65851423-G-C |
DNAJC6 |
c.829G>C |
p.Ala277Pro |
Missense |
7/19 |
- |
1-65851423-G-A |
DNAJC6 |
c.829G>A |
p.Ala277Thr |
Missense |
7/19 |
- |
19-12429782-G-A |
ZNF563 |
c.1057C>T |
p.Arg353* |
Nonsense |
4/4 |
- |
2-186653566-A-G |
FSIP2 |
c.1703A>G |
- |
missense_variant |
16/23 |
- |
10-101557063-G-A |
ABCC2 |
c.842G>A |
p.Ser281Asn |
Missense |
7/32 |
- |
10-101610499-A-G |
ABCC2 |
c.4454A>G |
p.His1485Arg |
Missense |
31/32 |
- |
20-10622214-C-A |
JAG1 |
c.2810G>T |
p.Arg937Leu |
Missense |
23/26 |
- |
14-105353811-C-T |
CEP170B |
c.3235C>T |
p.Arg1079Cys |
Missense |
12/19 |
- |
17-7579324-AG-AA |
TP53 |
c.362_363delCTinsAA |
p.Ser121* |
Nonsense |
4/11 |
- |
7-103205779-G-A |
RELN |
c.5156C>T |
p.Ser1719Leu |
Missense |
34/65 |
- |
20-10622214-C-T |
JAG1 |
c.2810G>A |
p.Arg937Gln |
Missense |
23/26 |
- |
17-7574019-C-G |
TP53 |
c.1008G>C |
p.Glu336Asp |
Missense |
10/11 |
- |
7-2297115-T-C |
SNX8 |
c.1019A>G |
p.His340Arg |
Missense |
9/11 |
- |
11-14913631-G-C |
CYP2R1 |
c.121C>G |
p.Pro41Ala |
Missense |
1/5 |
- |
11-14913631-G-T |
CYP2R1 |
c.121C>A |
p.Pro41Thr |
Missense |
1/5 |
- |
17-7574019-C-A |
TP53 |
c.1008G>T |
p.Glu336Asp |
Missense |
10/11 |
- |
11-14913631-G-A |
CYP2R1 |
c.121C>T |
p.Pro41Ser |
Missense |
1/5 |
- |
2-125504881-T-C |
CNTNAP5 |
c.2150T>C |
p.Val717Ala |
Missense |
14/24 |
- |
22-23915761-C-A |
IGLL1 |
c.334G>T |
p.Ala112Ser |
Missense |
3/3 |
- |
20-57768809-C-T |
ZNF831 |
c.2735C>T |
p.Ala912Val |
Missense |
1/5 |
- |
11-108032676-G-A |
NPAT |
c.3137C>T |
p.Pro1046Leu |
Missense |
17/18 |
- |
11-47359334-C-G |
MYBPC3 |
c.2320G>C |
p.Ala774Pro |
Missense |
24/35 |
- |
2-46603764-T-A |
EPAS1 |
c.1121T>A |
p.Phe374Tyr |
Missense |
9/16 |
- |
11-47359334-C-T |
MYBPC3 |
c.2320G>A |
p.Ala774Thr |
Missense |
24/35 |
- |
13-41134399-G-C |
FOXO1 |
c.1229C>G |
p.Pro410Arg |
Missense |
2/3 |
- |
17-37865688-C-T |
ERBB2 |
c.557C>T |
p.Thr186Ile |
Missense |
4/27 |
- |
19-38875072-G-A |
GGN |
c.1939C>T |
p.Gln647* |
Nonsense |
4/4 |
- |
19-38875072-G-C |
GGN |
c.1939C>G |
p.Gln647Glu |
Missense |
4/4 |
- |
16-4935694-C-G |
PPL |
c.2962G>C |
p.Gly988Arg |
Missense |
22/22 |
- |
16-4935694-C-T |
PPL |
c.2962G>A |
p.Gly988Arg |
Missense |
22/22 |
- |
9-79985363-G-A |
VPS13A |
c.8776G>A |
p.Gly2926Ser |
Missense |
65/69 |
- |
1-34330137-C-A |
CSMD2 |
c.801-17540G>T |
- |
IntronicSNV |
- |
5/69 |
13-32907524-AGGTACCTCTGTCTTTTTTTTTTTGTAAATAGTACATATAGTTTTATAGATGACGATTCC-A |
BRCA2 |
c.1909_1910del2879 |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
10/27 |
10/26 |
11-6891726-C-A |
OR10A2 |
c.741C>A |
p.Phe247Leu |
Missense |
1/1 |
- |
11-62298022-C-G |
AHNAK |
c.342+4453G>C |
- |
IntronicSNV |
- |
4/5 |
17-7578465-G-A |
TP53 |
c.465C>T |
p.Thr155Thr |
Synonymous |
5/11 |
- |
9-136029406-T-C |
GBGT1 |
c.602A>G |
p.Tyr201Cys |
Missense |
7/7 |
- |
16-4935694-C-A |
PPL |
c.2962G>T |
p.Gly988Trp |
Missense |
22/22 |
- |
3-120394672-A-T |
HGD |
c.54T>A |
p.Asp18Glu |
Missense |
2/14 |
- |
3-184648315-G-A |
VPS8 |
c.2851G>A |
p.Glu951Lys |
Missense |
33/47 |
- |
17-47246211-C-T |
B4GALNT2 |
c.1444C>T |
p.Arg482* |
Nonsense |
10/11 |
- |
14-96730863-C-T |
BDKRB1 |
c.844C>T |
p.Arg282* |
Nonsense |
3/3 |
- |
17-7578465-G-T |
TP53 |
c.465C>A |
p.Thr155Thr |
Synonymous |
5/11 |
- |
19-42841018-C-T |
MEGF8 |
c.1304C>T |
p.Thr435Met |
Missense |
7/41 |
- |
12-21229413-G-A |
SLCO1B7 |
c.1634G>A |
p.Gly545Glu |
Missense |
12/13 |
- |
9-131467682-G-A |
PKN3 |
c.125G>A |
p.Arg42His |
Missense |
2/22 |
- |
11-1078456-C-T |
MUC2 |
c.664C>T |
p.Arg222Cys |
Missense |
6/51 |
- |
2-233164774-C-T |
DIS3L2 |
c.1684C>T |
p.His562Tyr |
Missense |
14/21 |
- |
19-40580431-C-T |
ZNF780A |
c.1918G>A |
p.Ala640Thr |
Missense |
6/6 |
- |
19-40580431-C-G |
ZNF780A |
c.1918G>C |
p.Ala640Pro |
Missense |
6/6 |
- |
14-51288636-G-C |
NIN |
c.139C>G |
p.Pro47Ala |
Missense |
3/30 |
- |
6-158485972-G-A |
SYNJ2 |
c.1474G>A |
p.Glu492Lys |
Missense |
11/27 |
- |
6-147635108-C-G |
STXBP5 |
c.1234C>G |
p.Leu412Val |
Missense |
12/28 |
- |
2-179476308-G-T |
TTN |
c.42944C>A |
p.Pro14315His |
Missense |
218/312 |
- |
15-28358774-C-T |
HERC2 |
c.13964G>A |
p.Arg4655His |
Missense |
91/93 |
- |
2-179476308-G-A |
TTN |
c.42944C>T |
p.Pro14315Leu |
Missense |
218/312 |
- |
10-134621945-C-G |
CFAP46 |
c.8128G>C |
p.Val2710Leu |
Missense |
58/58 |
- |
10-134621945-C-T |
CFAP46 |
c.8128G>A |
p.Val2710Met |
Missense |
58/58 |
- |
6-161007619-G-T |
LPA |
c.3991C>A |
p.Arg1331Ser |
Missense |
25/39 |
- |
13-32911202-G-A |
BRCA2 |
c.2710G>A |
p.Gly904Arg |
Missense |
11/27 |
- |
6-161007619-G-A |
LPA |
c.3991C>T |
p.Arg1331Cys |
Missense |
25/39 |
- |
X-55039952-G-A |
ALAS2 |
c.1567C>T |
p.His523Tyr |
Missense |
10/11 |
- |
X-55039952-G-T |
ALAS2 |
c.1567C>A |
p.His523Asn |
Missense |
10/11 |
- |
X-55039952-G-C |
ALAS2 |
c.1567C>G |
p.His523Asp |
Missense |
10/11 |
- |
3-50112609-G-T |
RBM6 |
c.3117-25G>T |
- |
IntronicSNV |
- |
19/20 |
13-32907180-GGT-G |
BRCA2 |
c.1565_1566delGT |
p.Gly522Alafs*4 |
Frameshift |
10/27 |
- |
3-50112609-G-C |
RBM6 |
c.3117-25G>C |
- |
IntronicSNV |
- |
19/20 |
9-5770093-A-T |
RIC1 |
c.3431A>T |
p.Glu1144Val |
Missense |
23/26 |
- |
9-5770093-A-G |
RIC1 |
c.3431A>G |
p.Glu1144Gly |
Missense |
23/26 |
- |
17-7684442-A-T |
DNAH2 |
c.6086A>T |
p.Asp2029Val |
Missense |
39/86 |
- |
17-7684442-A-C |
DNAH2 |
c.6086A>C |
p.Asp2029Ala |
Missense |
39/86 |
- |
17-7684442-A-G |
DNAH2 |
c.6086A>G |
p.Asp2029Gly |
Missense |
39/86 |
- |
20-60892011-C-T |
LAMA5 |
c.7580G>A |
p.Arg2527His |
Missense |
56/80 |
- |
17-7579497-G-C |
TP53 |
c.190C>G |
p.Pro64Ala |
Missense |
4/11 |
- |
15-44856862-G-A |
SPG11 |
c.6695C>T |
p.Pro2232Leu |
Missense |
37/38 |
- |
1-218520315-G-A |
TGFB2 |
c.272G>A |
p.Arg91His |
Missense |
1/7 |
- |
2-113593794-G-T |
IL1B |
c.13C>A |
p.Pro5Thr |
Missense |
2/7 |
- |
17-18154791-C-G |
FLII |
c.1384G>C |
p.Glu462Gln |
Missense |
13/30 |
- |
9-121929726-G-A |
BRINP1 |
c.1922C>T |
p.Ser641Leu |
Missense |
8/8 |
- |
19-11034281-C-T |
YIPF2 |
c.724G>A |
p.Gly242Arg |
Missense |
8/10 |
- |
5-167653121-G-A |
TENM2 |
c.5110G>A |
p.Val1704Met |
Missense |
25/30 |
- |
17-37866390-C-T |
ERBB2 |
c.695C>T |
p.Pro232Leu |
Missense |
6/27 |
- |
20-60892011-C-A |
LAMA5 |
c.7580G>T |
p.Arg2527Leu |
Missense |
56/80 |
- |
19-9056616-G-A |
MUC16 |
c.30830C>T |
p.Thr10277Ile |
Missense |
3/84 |
- |
14-102507911-C-G |
DYNC1H1 |
c.11942C>G |
p.Thr3981Arg |
Missense |
65/78 |
- |
4-79328847-C-T |
FRAS1 |
c.4160C>T |
p.Ala1387Val |
Missense |
31/42 |
- |
12-53555083-G-A |
CSAD |
c.874C>T |
p.Arg292Cys |
Missense |
11/17 |
- |
1-53352682-G-C |
ZYG11A |
c.2061G>C |
p.Gln687His |
Missense |
13/14 |
- |
2-125660581-G-A |
CNTNAP5 |
c.3556G>A |
p.Ala1186Thr |
Missense |
22/24 |
- |
10-72489891-C-T |
ADAMTS14 |
c.988C>T |
p.Arg330Cys |
Missense |
6/22 |
- |
7-105656471-G-A |
CDHR3 |
c.1426G>A |
p.Ala476Thr |
Missense |
11/19 |
- |
7-105656471-G-T |
CDHR3 |
c.1426G>T |
p.Ala476Ser |
Missense |
11/19 |
- |
5-142500573-A-G |
ARHGAP26 |
c.1559A>G |
p.Gln520Arg |
Missense |
18/23 |
- |
7-55914251-C-G |
SEPT14 |
c.134G>C |
p.Arg45Thr |
Missense |
3/10 |
- |
17-40452768-G-T |
STAT5A |
c.869G>T |
p.Arg290Leu |
Missense |
9/20 |
- |
17-40452768-G-A |
STAT5A |
c.869G>A |
p.Arg290Gln |
Missense |
9/20 |
- |
13-39621897-T-A |
NHLRC3 |
c.878T>A |
p.Ile293Asn |
Missense |
7/7 |
- |
9-133759722-G-A |
ABL1 |
c.2102G>A |
p.Arg701Gln |
Missense |
11/11 |
- |
4-1729887-G-T |
TACC3 |
c.758G>T |
p.Gly253Val |
Missense |
4/16 |
- |
4-1729887-G-A |
TACC3 |
c.758G>A |
p.Gly253Asp |
Missense |
4/16 |
- |
16-20439162-G-T |
ACSM5 |
c.974G>T |
p.Arg325Leu |
Missense |
7/14 |
- |
1-204971736-A-G |
NFASC |
c.3149A>G |
p.Lys1050Arg |
Missense |
27/30 |
- |
15-77406854-G-C |
PEAK1 |
c.4885C>G |
p.Pro1629Ala |
Missense |
8/8 |
- |
17-43215099-G-A |
ACBD4 |
c.503-28G>A |
- |
IntronicSNV |
- |
5/8 |
19-55481394-C-T |
NLRP2 |
c.11C>T |
p.Ser4Leu |
Missense |
2/13 |
- |
17-37868610-GTG-ATC |
ERBB2 |
c.1057_1059delGTGinsATC |
p.Val353Ile |
Missense |
9/27 |
- |
15-28473387-G-A |
HERC2 |
c.5441C>T |
p.Thr1814Met |
Missense |
35/93 |
- |
1-110882077-G-T |
RBM15 |
c.50G>T |
p.Arg17Leu |
Missense |
1/3 |
- |
12-46285585-G-C |
ARID2 |
c.4945G>C |
p.Val1649Leu |
Missense |
17/21 |
- |
18-50832036-G-T |
DCC |
c.2000G>T |
p.Arg667Leu |
Missense |
13/29 |
- |
10-105218243-C-T |
CALHM1 |
c.266G>A |
p.Arg89Gln |
Missense |
1/2 |
- |
18-21492826-T-C |
LAMA3 |
c.2483T>C |
p.Met828Thr |
Missense |
19/38 |
- |
1-152193195-G-C |
HRNR |
c.910C>G |
p.Arg304Gly |
Missense |
3/3 |
- |
19-14000196-G-T |
C19orf57 |
c.1473C>A |
p.Asp491Glu |
Missense |
6/8 |
- |
17-80043134-G-A |
FASN |
c.4267C>T |
p.Arg1423Cys |
Missense |
24/43 |
- |
X-153690570-G-T |
PLXNA3 |
c.1237G>T |
p.Gly413Cys |
Missense |
4/33 |
- |
X-153690570-G-A |
PLXNA3 |
c.1237G>A |
p.Gly413Ser |
Missense |
4/33 |
- |
7-94989379-C-G |
PON3 |
c.971G>C |
p.Gly324Ala |
Missense |
9/9 |
- |
5-149677517-G-T |
ARSI |
c.970C>A |
p.Arg324Arg |
Synonymous |
2/2 |
- |
3-39230770-C-T |
XIRP1 |
c.167G>A |
p.Arg56His |
Missense |
2/2 |
- |
5-149677517-G-A |
ARSI |
c.970C>T |
p.Arg324Trp |
Missense |
2/2 |
- |
21-30250573-G-T |
N6AMT1 |
c.479C>A |
p.Pro160Gln |
Missense |
5/6 |
- |
21-30250573-G-A |
N6AMT1 |
c.479C>T |
p.Pro160Leu |
Missense |
5/6 |
- |
2-238287746-C-T |
COL6A3 |
c.2030G>A |
p.Arg677His |
Missense |
6/44 |
- |
2-238287746-C-A |
COL6A3 |
c.2030G>T |
p.Arg677Leu |
Missense |
6/44 |
- |
4-8620201-C-A |
CPZ |
c.1516C>A |
p.Pro506Thr |
Missense |
9/10 |
- |
20-44639599-C-T |
MMP9 |
c.559C>T |
p.Leu187Phe |
Missense |
4/13 |
- |
19-42406469-A-G |
ARHGEF1 |
c.1505A>G |
p.Tyr502Cys |
Missense |
16/29 |
- |
19-42406469-A-C |
ARHGEF1 |
c.1505A>C |
p.Tyr502Ser |
Missense |
16/29 |
- |
18-28992884-T-G |
DSG4 |
c.2449T>G |
p.Ser817Ala |
Missense |
16/16 |
- |
16-20429546-C-A |
ACSM5 |
c.370C>A |
p.Arg124Arg |
Synonymous |
3/14 |
- |
12-40713899-T-C |
LRRK2 |
c.4937T>C |
p.Met1646Thr |
Missense |
34/51 |
- |
14-45579316-A-G |
PRPF39 |
c.1196A>G |
p.Asn399Ser |
Missense |
9/14 |
- |
X-102755560-G-T |
RAB40A |
c.125C>A |
p.Pro42Gln |
Missense |
3/3 |
- |
20-44639599-C-G |
MMP9 |
c.559C>G |
p.Leu187Val |
Missense |
4/13 |
- |
20-44639599-C-A |
MMP9 |
c.559C>A |
p.Leu187Ile |
Missense |
4/13 |
- |
8-100155318-G-A |
VPS13B |
c.1768G>A |
p.Ala590Thr |
Missense |
13/62 |
- |
13-32893342-C-G |
BRCA2 |
c.196C>G |
p.Gln66Glu |
Missense |
3/27 |
- |
16-20429546-C-T |
ACSM5 |
c.370C>T |
p.Arg124Trp |
Missense |
3/14 |
- |
6-20490428-G-A |
E2F3 |
c.772G>A |
p.Asp258Asn |
Missense |
7/7 |
- |
16-22268969-C-T |
EEF2K |
c.907C>T |
p.Arg303Cys |
Missense |
9/18 |
- |
2-140990879-T-C |
LRP1B |
c.13676A>G |
p.Asn4559Ser |
Missense |
91/91 |
- |
14-94394770-C-T |
FAM181A |
c.325C>T |
p.Arg109Cys |
Missense |
3/3 |
- |
2-179613191-T-C |
TTN |
c.10360+4660A>G |
- |
IntronicSNV |
- |
45/311 |
12-105431901-G-A |
ALDH1L2 |
c.2125C>T |
p.Leu709Phe |
Missense |
18/23 |
- |
3-183772604-C-T |
HTR3C |
c.163C>T |
p.Arg55Cys |
Missense |
2/9 |
- |
13-32912359-A-C |
BRCA2 |
c.3867A>C |
p.Lys1289Asn |
Missense |
11/27 |
- |
5-80109479-T-G |
MSH3 |
c.2732T>G |
p.Leu911Trp |
Missense |
20/24 |
- |
13-32912359-A-T |
BRCA2 |
c.3867A>T |
p.Lys1289Asn |
Missense |
11/27 |
- |
13-41134399-G-A |
FOXO1 |
c.1229C>T |
p.Pro410Leu |
Missense |
2/3 |
- |
1-15870933-G-T |
DNAJC16 |
c.614G>T |
p.Arg205Leu |
Missense |
5/15 |
- |
13-32906840-G-GCG |
BRCA2 |
c.1225_1226insCG |
p.Glu409Alafs*22 |
Frameshift |
10/27 |
- |
4-100002537-G-C |
ADH5 |
c.323C>G |
p.Thr108Ser |
Missense |
4/9 |
- |
1-15870933-G-A |
DNAJC16 |
c.614G>A |
p.Arg205His |
Missense |
5/15 |
- |
1-15870933-G-C |
DNAJC16 |
c.614G>C |
p.Arg205Pro |
Missense |
5/15 |
- |
1-167345342-A-G |
POU2F1 |
c.668A>G |
p.Asn223Ser |
Missense |
7/16 |
- |
3-179689390-G-A |
PEX5L |
c.85C>T |
p.Gln29* |
Nonsense |
2/15 |
- |
17-7579455-C-T |
TP53 |
c.232G>A |
p.Ala78Thr |
Missense |
4/11 |
- |
17-37876083-G-T |
ERBB2 |
c.1942G>T |
p.Ala648Ser |
Missense |
16/27 |
- |
3-179689390-G-C |
PEX5L |
c.85C>G |
p.Gln29Glu |
Missense |
2/15 |
- |
12-124393917-C-G |
DNAH10 |
c.9571C>G |
p.Pro3191Ala |
Missense |
57/78 |
- |
6-33372831-T-C |
KIFC1 |
c.959T>C |
p.Val320Ala |
Missense |
7/11 |
- |
17-8644974-G-A |
CCDC42 |
c.310C>T |
p.Arg104Trp |
Missense |
4/7 |
- |
15-89382103-G-A |
ACAN |
c.280G>A |
p.Val94Met |
Missense |
3/16 |
- |
19-7685787-G-A |
XAB2 |
c.1916C>T |
p.Ala639Val |
Missense |
14/19 |
- |
17-37881314-C-G |
ERBB2 |
c.2506C>G |
p.Leu836Val |
Missense |
21/27 |
- |
6-32551955-G-T |
HLA-DRB1 |
c.301C>A |
p.Arg101Arg |
Synonymous |
2/6 |
- |
17-8638536-T-A |
CCDC42 |
c.751A>T |
p.Lys251* |
Nonsense |
6/7 |
- |
3-38357067-T-C |
SLC22A14 |
c.1397T>C |
p.Leu466Pro |
Missense |
8/10 |
- |
3-38357067-T-A |
SLC22A14 |
c.1397T>A |
p.Leu466His |
Missense |
8/10 |
- |
15-55652244-G-A |
CCPG1 |
c.1727C>T |
p.Ala576Val |
Missense |
8/8 |
- |
6-32551955-G-C |
HLA-DRB1 |
c.301C>G |
p.Arg101Gly |
Missense |
2/6 |
- |
6-32551955-G-A |
HLA-DRB1 |
c.301C>T |
p.Arg101Trp |
Missense |
2/6 |
- |
7-158829449-C-T |
VIPR2 |
c.742G>A |
p.Gly248Arg |
Missense |
7/13 |
- |
17-37264441-G-A |
PLXDC1 |
c.527C>T |
p.Ala176Val |
Missense |
5/14 |
- |
15-53081265-G-T |
ONECUT1 |
c.817C>A |
p.Pro273Thr |
Missense |
1/2 |
- |
13-32899276-C-T |
BRCA2 |
c.380C>T |
p.Ala127Val |
Missense |
4/27 |
- |
19-10334725-A-T |
S1PR2 |
c.857T>A |
p.Val286Asp |
Missense |
2/2 |
- |
19-10334725-A-G |
S1PR2 |
c.857T>C |
p.Val286Ala |
Missense |
2/2 |
- |
8-13072158-C-G |
DLC1 |
c.1348+90620G>C |
- |
IntronicSNV |
- |
5/17 |
8-13072158-C-A |
DLC1 |
c.1348+90620G>T |
- |
IntronicSNV |
- |
5/17 |
11-3660256-C-A |
ART5 |
c.797G>T |
p.Arg266Met |
Missense |
3/4 |
- |
5-138739707-C-T |
SPATA24 |
c.43G>A |
p.Val15Met |
Missense |
1/6 |
- |
11-6644232-C-T |
DCHS1 |
c.8675G>A |
p.Arg2892Gln |
Missense |
21/21 |
- |
11-62259213-G-C |
AHNAK |
c.433C>G |
p.Pro145Ala |
Missense |
5/6 |
- |
9-86912927-C-T |
SLC28A3 |
c.677G>A |
p.Trp226* |
Nonsense |
8/19 |
- |
12-121879022-C-A |
KDM2B |
c.3299G>T |
p.Arg1100Leu |
Missense |
20/23 |
- |
12-121879022-C-T |
KDM2B |
c.3299G>A |
p.Arg1100Gln |
Missense |
20/23 |
- |
17-77710990-C-T |
ENPP7 |
c.1177C>T |
p.Arg393Trp |
Missense |
4/6 |
- |
1-158639328-C-T |
SPTA1 |
c.1703G>A |
p.Arg568His |
Missense |
14/52 |
- |
1-158639328-C-G |
SPTA1 |
c.1703G>C |
p.Arg568Pro |
Missense |
14/52 |
- |
19-39016135-A-G |
RYR1 |
c.10619A>G |
p.Tyr3540Cys |
Missense |
71/106 |
- |
16-1388672-C-G |
BAIAP3 |
c.122C>G |
p.Thr41Arg |
Missense |
2/33 |
- |
18-63492032-A-G |
CDH7 |
c.946A>G |
p.Lys316Glu |
Missense |
6/12 |
- |
6-11213709-T-A |
NEDD9 |
c.264A>T |
p.Gln88His |
Missense |
2/7 |
- |
7-107570040-A-G |
LAMB1 |
c.4562T>C |
p.Ile1521Thr |
Missense |
30/34 |
- |
7-107570040-A-C |
LAMB1 |
c.4562T>G |
p.Ile1521Ser |
Missense |
30/34 |
- |
5-173416495-G-T |
C5orf47 |
c.229G>T |
p.Val77Phe |
Missense |
1/5 |
- |
7-44152266-C-T |
AEBP1 |
c.2327C>T |
p.Ala776Val |
Missense |
18/21 |
- |
13-103520565-A-G |
ERCC5 |
c.2636A>G |
p.Asn879Ser |
Missense |
12/15 |
- |
12-44130331-C-T |
PUS7L |
c.1578G>A |
p.Met526Ile |
Missense |
7/9 |
- |
8-17541943-T-G |
MTUS1 |
c.2732A>C |
p.Lys911Thr |
Missense |
7/15 |
- |
10-103826484-G-A |
HPS6 |
c.1253G>A |
p.Gly418Asp |
Missense |
1/1 |
- |
19-11034281-C-G |
YIPF2 |
c.724G>C |
p.Gly242Arg |
Missense |
8/10 |
- |
18-47109955-A-C |
LIPG |
c.1187A>C |
p.Asn396Thr |
Missense |
8/10 |
- |
18-47109955-A-G |
LIPG |
c.1187A>G |
p.Asn396Ser |
Missense |
8/10 |
- |
2-136262011-A-G |
ZRANB3 |
c.49T>C |
p.Cys17Arg |
Missense |
2/21 |
- |
6-33373341-C-T |
KIFC1 |
c.1469C>T |
p.Ala490Val |
Missense |
7/11 |
- |
2-186665996-C-G |
FSIP2 |
c.11963C>G |
- |
missense_variant |
17/23 |
- |
10-92675322-G-A |
ANKRD1 |
c.827C>T |
p.Ala276Val |
Missense |
8/9 |
- |
17-18025140-C-A |
MYO15A |
c.3026C>A |
p.Pro1009His |
Missense |
2/66 |
- |
4-69811110-A-T |
UGT2A3 |
c.778T>A |
p.Trp260Arg |
Missense |
2/6 |
- |
4-69811110-A-C |
UGT2A3 |
c.778T>G |
p.Trp260Gly |
Missense |
2/6 |
- |
8-134251279-G-A |
NDRG1 |
c.1027C>T |
p.Arg343Cys |
Missense |
16/16 |
- |
12-662412-G-C |
B4GALNT3 |
c.1323G>C |
p.Glu441Asp |
Missense |
14/20 |
- |
11-64575044-C-T |
MEN1 |
c.778G>A |
p.Glu260Lys |
Missense |
4/10 |
- |
6-11213709-T-C |
NEDD9 |
c.264A>G |
p.Gln88Gln |
Synonymous |
2/7 |
- |
2-175432636-G-A |
WIPF1 |
c.1295C>T |
p.Pro432Leu |
Missense |
6/8 |
- |
17-37882905-T-C |
ERBB2 |
c.2963T>C |
p.Val988Ala |
Missense |
24/27 |
- |
6-35201057-A-G |
SCUBE3 |
c.691A>G |
p.Thr231Ala |
Missense |
6/22 |
- |
2-186665996-C-T |
FSIP2 |
c.11963C>T |
- |
missense_variant |
17/23 |
- |
17-18025140-C-G |
MYO15A |
c.3026C>G |
p.Pro1009Arg |
Missense |
2/66 |
- |
10-50824106-C-G |
CHAT |
c.287-442C>G |
- |
IntronicSNV |
- |
1/14 |
1-20027301-G-A |
TMCO4 |
c.1342C>T |
p.Arg448Trp |
Missense |
14/16 |
- |
1-45797139-G-A |
MUTYH |
c.1267C>T |
p.Arg423Cys |
Missense |
13/16 |
- |
X-140993801-G-T |
MAGEC1 |
c.611G>T |
p.Arg204Leu |
Missense |
4/4 |
- |
X-140993801-G-C |
MAGEC1 |
c.611G>C |
p.Arg204Pro |
Missense |
4/4 |
- |
13-32367033-C-T |
RXFP2 |
c.1594C>T |
p.Arg532* |
Nonsense |
16/18 |
- |
4-6862665-G-A |
KIAA0232 |
c.556G>A |
p.Val186Ile |
Missense |
7/10 |
- |
15-91310183-C-T |
BLM |
c.2237C>T |
p.Ala746Val |
Missense |
10/22 |
- |
X-78618948-G-C |
ITM2A |
c.215C>G |
p.Ala72Gly |
Missense |
2/6 |
- |
2-97757290-C-T |
FAHD2B |
c.154G>A |
p.Val52Ile |
Missense |
2/8 |
- |
17-7573006-GTGGCTGTAGGAGACAGAAGCAGGGAGGAGAGATGACATCACATGAGTGAGAGGGTCTGT-G |
TP53 |
c.1099_1103del923 |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
11/11 |
10/10 |
X-78618948-G-A |
ITM2A |
c.215C>T |
p.Ala72Val |
Missense |
2/6 |
- |
20-43836950-G-C |
SEMG1 |
c.1012G>C |
p.Glu338Gln |
Missense |
2/3 |
- |
3-128852936-T-C |
ISY1-RAB43 |
c.644A>G |
p.Tyr215Cys |
Missense |
9/13 |
- |
14-105169758-C-T |
INF2 |
c.634C>T |
p.Arg212Cys |
Missense |
4/23 |
- |
6-152757224-G-T |
SYNE1 |
c.4162C>A |
p.Arg1388Arg |
Synonymous |
33/146 |
- |
6-152757224-G-A |
SYNE1 |
c.4162C>T |
p.Arg1388Trp |
Missense |
33/146 |
- |
13-39621965-G-A |
NHLRC3 |
c.946G>A |
p.Asp316Asn |
Missense |
7/7 |
- |
14-105609442-C-T |
JAG2 |
c.3307G>A |
p.Val1103Met |
Missense |
26/26 |
- |
X-140993258-A-T |
MAGEC1 |
c.68A>T |
p.Gln23Leu |
Missense |
4/4 |
- |
5-177637232-C-T |
HNRNPAB |
c.788-322C>T |
- |
IntronicSNV |
- |
6/6 |
17-37879577-T-G |
ERBB2 |
c.1952T>G |
p.Leu651Arg |
Missense |
17/27 |
- |
8-17500162-T-A |
PDGFRL |
c.980T>A |
p.Ile327Asn |
Missense |
7/7 |
- |
8-17500162-T-C |
PDGFRL |
c.980T>C |
p.Ile327Thr |
Missense |
7/7 |
- |
20-47865924-T-C |
ZNFX1 |
c.3637A>G |
p.Ile1213Val |
Missense |
14/14 |
- |
13-32900263-GTA-ATG |
BRCA2 |
c.451_453delGTAinsATG |
p.Val151Met |
Missense |
5/27 |
- |
5-112228668-C-A |
REEP5 |
c.352-5788G>T |
- |
IntronicSNV |
- |
3/4 |
8-30916058-A-G |
WRN |
c.95A>G |
p.Lys32Arg |
Missense |
2/35 |
- |
6-33283594-G-A |
ZBTB22 |
c.1100C>T |
p.Pro367Leu |
Missense |
2/2 |
- |
11-62302555-G-A |
AHNAK |
c.262C>T |
p.Arg88Cys |
Missense |
4/6 |
- |
3-184603910-G-A |
VPS8 |
c.1741G>A |
p.Val581Ile |
Missense |
21/47 |
- |
9-98011497-G-A |
FANCC |
c.77C>T |
p.Ser26Phe |
Missense |
2/15 |
- |
2-27724663-A-G |
GCKR |
c.644+567A>G |
- |
IntronicSNV |
- |
8/18 |
7-100839291-T-A |
MOGAT3 |
c.962A>T |
p.Gln321Leu |
Missense |
7/7 |
- |
17-18027809-C-T |
MYO15A |
c.3622C>T |
p.Arg1208Cys |
Missense |
3/66 |
- |
17-76481041-A-C |
DNAH17 |
c.7558T>G |
p.Phe2520Val |
Missense |
48/81 |
- |
10-104359297-G-T |
SUFU |
c.1018G>T |
p.Ala340Ser |
Missense |
8/12 |
- |
13-32900715-C-T |
BRCA2 |
c.596C>T |
p.Ala199Val |
Missense |
7/27 |
- |
15-90997745-G-A |
IQGAP1 |
c.1573G>A |
p.Val525Met |
Missense |
14/38 |
- |
6-32032790-G-A |
TNXB |
c.6649C>T |
p.Pro2217Ser |
Missense |
19/44 |
- |
14-77732925-T-C |
NGB |
c.410A>G |
p.Tyr137Cys |
Missense |
4/4 |
- |
9-135977479-G-C |
RALGDS |
c.2057C>G |
p.Ser686Cys |
Missense |
15/18 |
- |
1-206905941-G-T |
MAPKAPK2 |
c.*505G>T |
- |
3-UTRSNV |
10/10 |
- |
2-30987041-G-C |
CAPN13 |
c.656C>G |
p.Ala219Gly |
Missense |
6/23 |
- |
17-37873661-C-T |
ERBB2 |
c.1826C>T |
p.Ser609Phe |
Missense |
15/27 |
- |
2-187540395-G-A |
ITGAV |
c.2771G>A |
p.Ser924Asn |
Missense |
27/30 |
- |
2-187540395-G-T |
ITGAV |
c.2771G>T |
p.Ser924Ile |
Missense |
27/30 |
- |
3-69087870-C-G |
TMF1 |
c.1996G>C |
p.Glu666Gln |
Missense |
8/17 |
- |
22-38121652-C-G |
TRIOBP |
c.3089C>G |
p.Pro1030Arg |
Missense |
7/24 |
- |
22-38121652-C-T |
TRIOBP |
c.3089C>T |
p.Pro1030Leu |
Missense |
7/24 |
- |
7-23224779-G-GG |
NUPL2 |
c.212_212dup |
p.Ser72Glnfs*13 |
Frameshift |
2/7 |
- |
6-152576061-C-T |
SYNE1 |
c.19424G>A |
p.Arg6475Gln |
Missense |
104/146 |
- |
8-38677346-C-T |
TACC1 |
c.584C>T |
p.Ala195Val |
Missense |
3/13 |
- |
11-3660256-C-T |
ART5 |
c.797G>A |
p.Arg266Lys |
Missense |
3/4 |
- |
22-46688704-C-A |
TTC38 |
c.1333C>A |
p.Arg445Ser |
Missense |
14/14 |
- |
1-229663025-C-G |
ABCB10 |
c.1676G>C |
p.Arg559Pro |
Missense |
9/13 |
- |
1-229663025-C-A |
ABCB10 |
c.1676G>T |
p.Arg559Leu |
Missense |
9/13 |
- |
19-9082456-G-A |
MUC16 |
c.9359C>T |
p.Thr3120Ile |
Missense |
1/84 |
- |
1-229663025-C-T |
ABCB10 |
c.1676G>A |
p.Arg559His |
Missense |
9/13 |
- |
16-2120559-G-A |
TSC2 |
c.1819G>A |
p.Ala607Thr |
Missense |
17/42 |
- |
20-35740732-A-G |
MROH8 |
c.2809T>C |
- |
missense_variant |
21/25 |
- |
8-134251279-G-T |
NDRG1 |
c.1027C>A |
p.Arg343Ser |
Missense |
16/16 |
- |
17-7579536-C-A |
TP53 |
c.151G>T |
p.Glu51* |
Nonsense |
4/11 |
- |
17-5012622-C-T |
ZNF232 |
c.498+67G>A |
- |
IntronicSNV |
- |
3/4 |
8-8235510-G-A |
PRAG1 |
c.409C>T |
p.Arg137* |
Nonsense |
3/6 |
- |
13-32913026-CGT-TGG |
BRCA2 |
c.4534_4536delCGTinsTGG |
p.Arg1512Trp |
Missense |
11/27 |
- |
1-6639073-G-A |
TAS1R1 |
c.1955G>A |
p.Arg652His |
Missense |
6/6 |
- |
14-73733285-G-A |
PAPLN |
c.3259G>A |
p.Ala1087Thr |
Missense |
23/26 |
- |
21-40717137-C-T |
HMGN1 |
c.190G>A |
p.Glu64Lys |
Missense |
5/6 |
- |
2-198948627-G-A |
PLCL1 |
c.386G>A |
p.Arg129His |
Missense |
2/6 |
- |
1-146684095-T-C |
FMO5 |
c.496A>G |
p.Lys166Glu |
Missense |
5/9 |
- |
6-33282922-T-C |
ZBTB22 |
c.1772A>G |
p.Glu591Gly |
Missense |
2/2 |
- |
7-893208-G-A |
SUN1 |
c.967G>A |
p.Gly323Arg |
Missense |
9/18 |
- |
2-128522189-T-C |
WDR33 |
c.626+213A>G |
- |
IntronicSNV |
- |
6/21 |
4-178283446-G-T |
NEIL3 |
c.1639G>T |
p.Ala547Ser |
Missense |
10/10 |
- |
1-158589121-G-T |
SPTA1 |
c.6421C>A |
p.Arg2141Arg |
Synonymous |
45/52 |
- |
1-158589121-G-C |
SPTA1 |
c.6421C>G |
p.Arg2141Gly |
Missense |
45/52 |
- |
1-158589121-G-A |
SPTA1 |
c.6421C>T |
p.Arg2141Trp |
Missense |
45/52 |
- |
1-45500083-C-T |
ZSWIM5 |
c.2350G>A |
p.Val784Met |
Missense |
11/14 |
- |
6-150005429-G-T |
LATS1 |
c.796C>A |
p.Pro266Thr |
Missense |
4/8 |
- |
1-209801479-C-T |
LAMB3 |
c.1189G>A |
p.Gly397Arg |
Missense |
11/23 |
- |
1-54605319-G-GCC |
CDCP2 |
c.1223_1224insGG |
p.Met409Alafs*2 |
Frameshift |
5/5 |
- |
22-40364122-G-T |
GRAP2 |
c.536G>T |
p.Arg179Leu |
Missense |
6/8 |
- |
22-40364122-G-A |
GRAP2 |
c.536G>A |
p.Arg179Gln |
Missense |
6/8 |
- |
8-144620334-C-G |
ZC3H3 |
c.1203G>C |
p.Lys401Asn |
Missense |
2/12 |
- |
6-150005429-G-C |
LATS1 |
c.796C>G |
p.Pro266Ala |
Missense |
4/8 |
- |
6-150005429-G-A |
LATS1 |
c.796C>T |
p.Pro266Ser |
Missense |
4/8 |
- |
1-147084683-A-G |
BCL9 |
c.55A>G |
p.Ser19Gly |
Missense |
5/10 |
- |
16-20963832-C-T |
DNAH3 |
c.11111G>A |
p.Arg3704Lys |
Missense |
56/62 |
- |
12-31820718-C-G |
ETFBKMT |
c.583C>G |
p.Leu195Val |
Missense |
4/4 |
- |
12-31820718-C-T |
ETFBKMT |
c.583C>T |
p.Leu195Phe |
Missense |
4/4 |
- |
2-96963419-T-C |
SNRNP200 |
c.1159A>G |
p.Met387Val |
Missense |
10/45 |
- |
9-78790138-A-G |
PCSK5 |
c.1900+93A>G |
- |
IntronicSNV |
- |
14/36 |
7-48278988-C-G |
ABCA13 |
c.1048C>G |
p.Arg350Gly |
Missense |
9/62 |
- |
2-141298635-C-T |
LRP1B |
c.7420G>A |
p.Gly2474Ser |
Missense |
45/91 |
- |
20-32255678-A-T |
ACTL10 |
c.375A>T |
p.Glu125Asp |
Missense |
1/1 |
- |
12-65448985-C-T |
WIF1 |
c.931G>A |
p.Glu311Lys |
Missense |
9/10 |
- |
10-13166053-A-T |
OPTN |
c.941A>T |
p.Gln314Leu |
Missense |
8/14 |
- |
17-37868666-T-G |
ERBB2 |
c.1113T>G |
p.Phe371Leu |
Missense |
9/27 |
- |
1-34330137-C-T |
CSMD2 |
c.801-17540G>A |
- |
IntronicSNV |
- |
5/69 |
2-113513557-C-T |
CKAP2L |
c.1391G>A |
p.Arg464Gln |
Missense |
4/9 |
- |
13-25280563-C-A |
ATP12A |
c.2131C>A |
p.Gln711Lys |
Missense |
15/23 |
- |
19-52888358-C-T |
ZNF880 |
c.1525C>T |
p.Arg509* |
Nonsense |
4/4 |
- |
17-37882871-TC-CT |
ERBB2 |
c.2929_2930delTCinsCT |
p.Ser977Leu |
Missense |
24/27 |
- |
17-37866369-C-T |
ERBB2 |
c.674C>T |
p.Ala225Val |
Missense |
6/27 |
- |
1-152277797-C-G |
FLG |
c.9565G>C |
p.Ala3189Pro |
Missense |
3/3 |
- |
12-88500556-C-T |
CEP290 |
c.2713G>A |
p.Glu905Lys |
Missense |
25/54 |
- |
22-45204203-C-T |
PRR5-ARHGAP8 |
c.550C>T |
p.Leu184Leu |
Synonymous |
6/15 |
- |
17-7579548-G-A |
TP53 |
c.139C>T |
p.Pro47Ser |
Missense |
4/11 |
- |
13-32899235-GA-G |
BRCA2 |
c.339delA |
p.Arg113Serfs*8 |
Frameshift |
4/27 |
- |
1-152277797-C-A |
FLG |
c.9565G>T |
p.Ala3189Ser |
Missense |
3/3 |
- |
17-76118721-G-A |
TMC6 |
c.1192C>T |
p.Arg398Cys |
Missense |
10/20 |
- |
6-83900694-T-C |
PGM3 |
c.38A>G |
p.His13Arg |
Missense |
2/13 |
- |
4-129770150-G-T |
JADE1 |
c.312G>T |
p.Glu104Asp |
Missense |
5/9 |
- |
9-140069828-C-T |
ANAPC2 |
c.2117G>A |
p.Arg706His |
Missense |
12/13 |
- |
7-44156490-C-T |
POLD2 |
c.706G>A |
p.Ala236Thr |
Missense |
6/11 |
- |
13-23913826-C-T |
SACS |
c.4189G>A |
p.Glu1397Lys |
Missense |
10/10 |
- |
13-23913826-C-G |
SACS |
c.4189G>C |
p.Glu1397Gln |
Missense |
10/10 |
- |
3-180334078-A-AA |
CCDC39 |
c.2660_2660dup |
p.Ser888Ilefs*6 |
Frameshift |
19/20 |
- |
12-68720687-G-A |
MDM1 |
c.248C>T |
p.Ser83Leu |
Missense |
3/3 |
- |
4-90816203-G-T |
MMRN1 |
c.81G>T |
p.Trp27Cys |
Missense |
1/8 |
- |
10-103826484-G-T |
HPS6 |
c.1253G>T |
p.Gly418Val |
Missense |
1/1 |
- |
3-186330934-A-T |
AHSG |
c.4A>T |
p.Lys2* |
Nonsense |
1/7 |
- |
17-45214698-C-G |
CDC27 |
c.1751G>C |
p.Ser584Thr |
Missense |
14/19 |
- |
2-197767367-C-T |
PGAP1 |
c.749G>A |
p.Arg250His |
Missense |
5/27 |
- |
3-52436832-C-T |
BAP1 |
c.1946G>A |
p.Cys649Tyr |
Missense |
15/17 |
- |
13-114309237-C-T |
ATP4B |
c.133G>A |
p.Val45Met |
Missense |
2/7 |
- |
9-124072992-G-C |
GSN |
c.535G>C |
p.Val179Leu |
Missense |
4/17 |
- |
10-101610499-A-C |
ABCC2 |
c.4454A>C |
p.His1485Pro |
Missense |
31/32 |
- |
19-48602951-C-A |
PLA2G4C |
c.454G>T |
p.Val152Phe |
Missense |
5/17 |
- |
11-122945462-G-C |
CLMP |
c.769C>G |
p.Arg257Gly |
Missense |
6/7 |
- |
17-45234430-A-G |
CDC27 |
c.691T>C |
p.Ser231Pro |
Missense |
7/19 |
- |
1-6639073-G-T |
TAS1R1 |
c.1955G>T |
p.Arg652Leu |
Missense |
6/6 |
- |
12-117691500-C-T |
NOS1 |
c.2591G>A |
p.Gly864Asp |
Missense |
17/29 |
- |
11-122945462-G-A |
CLMP |
c.769C>T |
p.Arg257* |
Nonsense |
6/7 |
- |
16-20976519-C-T |
DNAH3 |
c.8687G>A |
p.Arg2896His |
Missense |
53/62 |
- |
5-41007422-A-C |
MROH2B |
c.3743T>G |
p.Leu1248Arg |
Missense |
34/42 |
- |
21-43161672-C-G |
RIPK4 |
c.1681G>C |
p.Val561Leu |
Missense |
8/8 |
- |
4-90872862-C-A |
MMRN1 |
c.3225C>A |
p.Asn1075Lys |
Missense |
7/8 |
- |
7-21945240-G-A |
CDCA7L |
c.931C>T |
p.Arg311Trp |
Missense |
7/10 |
- |
9-35740902-C-G |
GBA2 |
c.946G>C |
p.Gly316Arg |
Missense |
5/17 |
- |
7-132193335-A-G |
PLXNA4 |
c.118T>C |
p.Phe40Leu |
Missense |
3/5 |
- |
13-32906600-AG-CC |
BRCA2 |
c.985_986delAGinsCC |
p.Arg329Pro |
Missense |
10/27 |
- |
13-32906600-AG-CA |
BRCA2 |
c.985_986delAGinsCA |
p.Arg329Gln |
Missense |
10/27 |
- |
17-7572982-AGAC-A |
TP53 |
c.1125_1127delGTC |
p.Gln375_ser376delinsHis |
MultiAAMissense |
11/11 |
- |
20-5966763-A-G |
MCM8 |
c.2149A>G |
p.Ile717Val |
Missense |
16/19 |
- |
7-891100-G-T |
SUN1 |
c.509-487G>T |
- |
IntronicSNV |
- |
5/17 |
17-37866453-T-A |
ERBB2 |
c.758T>A |
p.Leu253Gln |
Missense |
6/27 |
- |
1-53668099-C-T |
CPT2 |
c.338C>T |
p.Ser113Leu |
Missense |
3/5 |
- |
6-150022977-G-A |
LATS1 |
c.286C>T |
p.Arg96Trp |
Missense |
2/8 |
- |
3-188327604-C-T |
LPP |
c.1085C>T |
p.Ala362Val |
Missense |
6/11 |
- |
4-8605860-C-T |
CPZ |
c.621C>T |
p.Asp207Asp |
Synonymous |
3/10 |
- |
17-41981843-G-C |
MPP2 |
c.1-15C>G |
- |
5-UTRSNV |
2/13 |
- |
17-41981843-G-A |
MPP2 |
c.1-15C>T |
- |
5-UTRSNV |
2/13 |
- |
4-169632895-C-G |
PALLD |
c.1785C>G |
p.Ser595Arg |
Missense |
10/21 |
- |
11-5364049-G-C |
OR51B5 |
c.706C>G |
p.Leu236Val |
Missense |
5/5 |
- |
4-8605860-C-A |
CPZ |
c.621C>A |
p.Asp207Glu |
Missense |
3/10 |
- |
17-37864770-A-C |
ERBB2 |
c.422A>C |
p.Gln141Pro |
Missense |
3/27 |
- |
16-16142079-G-T |
ABCC1 |
c.1299G>T |
p.Arg433Ser |
Missense |
10/31 |
- |
X-57515249-G-C |
FAAH2 |
c.1483G>C |
p.Gly495Arg |
Missense |
11/11 |
- |
5-79031745-A-G |
CMYA5 |
c.7157A>G |
p.Gln2386Arg |
Missense |
2/13 |
- |
3-193185248-G-T |
ATP13A4 |
c.971C>A |
p.Pro324Gln |
Missense |
10/30 |
- |
2-179584437-C-G |
TTN |
c.20050G>C |
p.Glu6684Gln |
Missense |
79/312 |
- |
9-131397116-C-G |
WDR34 |
c.1066G>C |
p.Gly356Arg |
Missense |
7/9 |
- |
11-121454211-G-A |
SORL1 |
c.3625G>A |
p.Gly1209Arg |
Missense |
26/48 |
- |
X-140993747-C-T |
MAGEC1 |
c.557C>T |
p.Thr186Ile |
Missense |
4/4 |
- |
16-68387410-C-T |
PRMT7 |
c.1591C>T |
p.Arg531Trp |
Missense |
16/19 |
- |
X-57515249-G-A |
FAAH2 |
c.1483G>A |
p.Gly495Arg |
Missense |
11/11 |
- |
15-57484419-C-T |
TCF12 |
c.454C>T |
p.Pro152Ser |
Missense |
7/20 |
- |
9-132671178-A-G |
FNBP1 |
c.1286T>C |
p.Met429Thr |
Missense |
12/17 |
- |
2-182542838-G-A |
NEUROD1 |
c.750C>T |
p.Ser250Ser |
Synonymous |
2/2 |
- |
6-152694231-C-T |
SYNE1 |
c.9448G>A |
p.Ala3150Thr |
Missense |
59/146 |
- |
20-3729011-C-T |
HSPA12B |
c.823C>T |
p.Arg275Cys |
Missense |
8/13 |
- |
19-758613-G-A |
MISP |
c.1667G>A |
p.Arg556His |
Missense |
2/5 |
- |
9-134504021-G-A |
RAPGEF1 |
c.881C>T |
p.Ala294Val |
Missense |
8/24 |
- |
1-235715488-C-T |
GNG4 |
c.149G>A |
p.Arg50Gln |
Missense |
3/3 |
- |
3-75787194-C-A |
ZNF717 |
c.1580G>T |
p.Arg527Ile |
Missense |
5/5 |
- |
2-27729379-C-G |
GCKR |
c.901C>G |
p.Arg301Gly |
Missense |
11/19 |
- |
2-27729379-C-T |
GCKR |
c.901C>T |
p.Arg301* |
Nonsense |
11/19 |
- |
8-124094998-G-T |
TBC1D31 |
c.281G>T |
p.Arg94Leu |
Missense |
3/22 |
- |
8-124094998-G-A |
TBC1D31 |
c.281G>A |
p.Arg94His |
Missense |
3/22 |
- |
15-99451976-G-A |
IGF1R |
c.1310G>A |
p.Arg437His |
Missense |
6/21 |
- |
15-41148092-C-T |
SPINT1 |
c.1120C>T |
p.His374Tyr |
Missense |
9/11 |
- |
1-54605319-G-GC |
CDCP2 |
c.1223_1224insG |
p.Met409Hisfs*81 |
Frameshift |
5/5 |
- |
1-54605319-G-GT |
CDCP2 |
c.1223_1224insA |
p.Met409Hisfs*81 |
Frameshift |
5/5 |
- |
5-93990395-A-C |
SLF1 |
c.1093A>C |
p.Lys365Gln |
Missense |
9/21 |
- |
1-226037619-G-A |
TMEM63A |
c.2065C>T |
p.Arg689Cys |
Missense |
21/25 |
- |
15-90167197-G-T |
TICRR |
c.3656G>T |
p.Ser1219Ile |
Missense |
20/22 |
- |
4-42445607-G-A |
ATP8A1 |
c.3098C>T |
p.Pro1033Leu |
Missense |
33/37 |
- |
1-235884023-G-A |
LYST |
c.9498C>T |
p.Phe3166Phe |
Synonymous |
40/53 |
- |
1-235884023-G-C |
LYST |
c.9498C>G |
p.Phe3166Leu |
Missense |
40/53 |
- |
17-7579485-C-T |
TP53 |
c.202G>A |
p.Glu68Lys |
Missense |
4/11 |
- |
11-126162947-C-A |
TIRAP |
c.643C>A |
p.Arg215Ser |
Missense |
5/5 |
- |
11-126162947-C-T |
TIRAP |
c.643C>T |
p.Arg215Cys |
Missense |
5/5 |
- |
11-126162947-C-G |
TIRAP |
c.643C>G |
p.Arg215Gly |
Missense |
5/5 |
- |
17-73559233-G-A |
LLGL2 |
c.667G>A |
p.Val223Met |
Missense |
7/25 |
- |
17-37872153-G-T |
ERBB2 |
c.1474G>T |
p.Ala492Ser |
Missense |
12/27 |
- |
19-46332369-C-T |
SYMPK |
c.1844G>A |
p.Arg615His |
Missense |
14/27 |
- |
16-75276702-G-A |
BCAR1 |
c.299C>T |
p.Thr100Met |
Missense |
2/7 |
- |
19-46332369-C-A |
SYMPK |
c.1844G>T |
p.Arg615Leu |
Missense |
14/27 |
- |
2-114500349-C-T |
SLC35F5 |
c.670G>A |
p.Glu224Lys |
Missense |
7/16 |
- |
1-95538342-C-A |
ALG14 |
c.113G>T |
p.Ser38Ile |
Missense |
1/4 |
- |
2-114500349-C-A |
SLC35F5 |
c.670G>T |
p.Glu224* |
Nonsense |
7/16 |
- |
1-95538342-C-T |
ALG14 |
c.113G>A |
p.Ser38Asn |
Missense |
1/4 |
- |
12-68724924-T-TT |
MDM1 |
c.98_98dup |
p.Tyr34Valfs*7 |
Frameshift |
2/3 |
- |
1-20027301-G-T |
TMCO4 |
c.1342C>A |
p.Arg448Arg |
Synonymous |
14/16 |
- |
8-15605938-C-A |
TUSC3 |
c.992C>A |
p.Ser331* |
Nonsense |
9/11 |
- |
18-19154339-T-C |
ESCO1 |
c.466A>G |
p.Lys156Glu |
Missense |
4/12 |
- |
8-15605938-C-G |
TUSC3 |
c.992C>G |
p.Ser331* |
Nonsense |
9/11 |
- |
1-117142860-C-T |
IGSF3 |
c.1792G>A |
p.Val598Met |
Missense |
8/12 |
- |
17-37884049-TC-CG |
ERBB2 |
c.3520_3521delTCinsCG |
p.Ser1174Arg |
Missense |
27/27 |
- |
2-232894725-G-T |
DIS3L2 |
c.301G>T |
p.Ala101Ser |
Missense |
5/21 |
- |
1-242042364-A-G |
EXO1 |
c.1828A>G |
p.Ser610Gly |
Missense |
11/14 |
- |
1-152192121-G-C |
HRNR |
c.1984C>G |
p.Arg662Gly |
Missense |
3/3 |
- |
1-152192121-G-T |
HRNR |
c.1984C>A |
p.Arg662Ser |
Missense |
3/3 |
- |
4-148546142-C-T |
TMEM184C |
c.479C>T |
p.Pro160Leu |
Missense |
4/10 |
- |
19-42879956-A-G |
MEGF8 |
c.7366A>G |
p.Thr2456Ala |
Missense |
41/41 |
- |
10-32308786-G-A |
KIF5B |
c.2306C>T |
p.Thr769Met |
Missense |
20/26 |
- |
17-42477385-T-C |
GPATCH8 |
c.2060A>G |
p.His687Arg |
Missense |
8/8 |
- |
22-23915761-C-T |
IGLL1 |
c.334G>A |
p.Ala112Thr |
Missense |
3/3 |
- |
17-37865670-C-T |
ERBB2 |
c.539C>T |
p.Ala180Val |
Missense |
4/27 |
- |
19-48953603-G-T |
GRWD1 |
c.502G>T |
p.Val168Leu |
Missense |
4/7 |
- |
17-37871558-G-A |
ERBB2 |
c.1168G>A |
p.Ala390Thr |
Missense |
10/27 |
- |
17-7578179-C-T |
TP53 |
c.670G>A |
p.Glu224Lys |
Missense |
6/11 |
- |
12-18891466-C-A |
CAPZA3 |
c.264C>A |
p.Ser88Arg |
Missense |
1/1 |
- |
12-18891466-C-G |
CAPZA3 |
c.264C>G |
p.Ser88Arg |
Missense |
1/1 |
- |
3-58870326-T-G |
C3orf67 |
c.285A>C |
p.Lys95Asn |
Missense |
7/16 |
- |
11-1775352-C-T |
CTSD |
c.844G>A |
p.Gly282Arg |
Missense |
7/9 |
- |
1-167515428-G-A |
CREG1 |
c.569C>T |
p.Ala190Val |
Missense |
3/4 |
- |
17-7579506-C-T |
TP53 |
c.181G>A |
p.Asp61Asn |
Missense |
4/11 |
- |
14-68050566-C-T |
PLEKHH1 |
c.3535C>T |
p.Arg1179Cys |
Missense |
25/29 |
- |
16-3534831-C-G |
NAA60 |
c.705C>G |
p.Gly235Gly |
Synonymous |
6/7 |
- |
12-102158956-T-C |
GNPTAB |
c.1739A>G |
p.Tyr580Cys |
Missense |
13/21 |
- |
18-77679298-A-G |
PQLC1 |
c.494T>C |
p.Ile165Thr |
Missense |
5/6 |
- |
13-36239272-G-T |
NBEA |
c.8350G>T |
p.Val2784Phe |
Missense |
55/58 |
- |
4-55964922-G-A |
KDR |
c.2315C>T |
p.Ala772Val |
Missense |
16/30 |
- |
11-17655816-G-C |
OTOG |
c.7504G>C |
p.Gly2502Arg |
Missense |
43/55 |
- |
3-113082077-T-G |
CFAP44 |
c.2849A>C |
p.Glu950Ala |
Missense |
21/21 |
- |
22-29446480-G-C |
ZNRF3 |
c.2311G>C |
p.Gly771Arg |
Missense |
8/9 |
- |
6-32151427-G-A |
AGER |
c.260C>T |
p.Pro87Leu |
Missense |
3/11 |
- |
1-160321967-C-T |
NCSTN |
c.967C>T |
p.Arg323Cys |
Missense |
8/17 |
- |
6-161022107-C-T |
LPA |
c.2969G>A |
p.Arg990Gln |
Missense |
19/39 |
- |
17-7579347-AAGAA-A |
TP53 |
c.338_341delTCTT |
p.Phe113Cysfs*9 |
Frameshift |
4/11 |
- |
11-47663963-G-A |
MTCH2 |
c.55C>T |
p.Gln19* |
Nonsense |
1/13 |
- |
10-116213225-C-T |
ABLIM1 |
c.1279G>A |
p.Gly427Ser |
Missense |
13/23 |
- |
8-144589985-G-A |
ZC3H3 |
c.1646C>T |
p.Ser549Leu |
Missense |
4/12 |
- |
X-132888183-G-A |
GPC3 |
c.358C>T |
p.Arg120Cys |
Missense |
3/8 |
- |
X-102755560-G-A |
RAB40A |
c.125C>T |
p.Pro42Leu |
Missense |
3/3 |
- |
2-238289980-G-C |
COL6A3 |
c.1475C>G |
p.Thr492Ser |
Missense |
5/44 |
- |
7-151853100-C-A |
KMT2C |
c.11855G>T |
p.Arg3952Ile |
Missense |
46/59 |
- |
X-24759542-A-G |
POLA1 |
c.2249A>G |
p.Lys750Arg |
Missense |
21/37 |
- |
1-3683159-A-C |
CCDC27 |
c.1513A>C |
p.Asn505His |
Missense |
9/12 |
- |
13-32890602-C-G |
BRCA2 |
c.5C>G |
p.Pro2Arg |
Missense |
2/27 |
- |
22-29446480-G-A |
ZNRF3 |
c.2311G>A |
p.Gly771Arg |
Missense |
8/9 |
- |
17-39324123-C-T |
KRTAP4-3 |
c.302G>A |
p.Arg101His |
Missense |
1/1 |
- |
4-79328846-G-T |
FRAS1 |
c.4159G>T |
p.Ala1387Ser |
Missense |
31/42 |
- |
1-100949904-G-A |
CDC14A |
c.1034G>A |
p.Arg345Gln |
Missense |
11/15 |
- |
19-49339623-C-A |
HSD17B14 |
c.46G>T |
p.Gly16Trp |
Missense |
1/9 |
- |
5-138739707-C-A |
SPATA24 |
c.43G>T |
p.Val15Leu |
Missense |
1/6 |
- |
3-39226336-G-A |
XIRP1 |
c.4601C>T |
p.Thr1534Met |
Missense |
2/2 |
- |
17-72846368-C-T |
GRIN2C |
c.1468G>A |
p.Val490Ile |
Missense |
6/13 |
- |
1-235929555-G-A |
LYST |
c.5945C>T |
p.Thr1982Ile |
Missense |
21/53 |
- |
13-32906537-T-C |
BRCA2 |
c.922T>C |
p.Phe308Leu |
Missense |
10/27 |
- |
10-126716115-G-A |
CTBP2 |
c.58+11451C>T |
- |
IntronicSNV |
- |
3/10 |
17-7573959-CCC-AGC |
TP53 |
c.1066_1068delGGGinsAGC |
p.Gly356Ser |
Missense |
10/11 |
- |
13-32910431-CTGTT-C |
BRCA2 |
c.1939_1942delTGTT |
p.Cys647Hisfs*12 |
Frameshift |
11/27 |
- |
12-118199278-G-A |
KSR2 |
c.524C>T |
- |
missense_variant |
4/20 |
- |
12-118199278-G-C |
KSR2 |
c.524C>G |
- |
missense_variant |
4/20 |
- |
1-170129701-T-C |
METTL11B |
c.197T>C |
p.Met66Thr |
Missense |
2/4 |
- |
19-52091068-G-T |
ZNF175 |
c.1484G>T |
p.Arg495Leu |
Missense |
5/5 |
- |
10-27687638-C-T |
PTCHD3 |
c.1889G>A |
p.Arg630Gln |
Missense |
4/4 |
- |
18-74091731-C-T |
ZNF516 |
c.2339G>A |
p.Arg780His |
Missense |
4/8 |
- |
19-9082456-G-T |
MUC16 |
c.9359C>A |
p.Thr3120Asn |
Missense |
1/84 |
- |
11-1017504-G-A |
MUC6 |
c.5297C>T |
p.Thr1766Ile |
Missense |
31/33 |
- |
17-7578476-G-A |
TP53 |
c.454C>T |
p.Pro152Ser |
Missense |
5/11 |
- |
5-178139380-C-T |
ZNF354A |
c.1499G>A |
p.Gly500Glu |
Missense |
5/5 |
- |
6-170070759-G-C |
WDR27 |
c.362C>G |
p.Ser121Trp |
Missense |
4/26 |
- |
6-170070759-G-A |
WDR27 |
c.362C>T |
p.Ser121Leu |
Missense |
4/26 |
- |
10-102256987-C-T |
SEC31B |
c.2041G>A |
p.Glu681Lys |
Missense |
17/26 |
- |
6-111688947-T-A |
REV3L |
c.6044A>T |
p.Glu2015Val |
Missense |
15/33 |
- |
13-61986858-A-C |
PCDH20 |
c.1374T>G |
p.Asp458Glu |
Missense |
2/2 |
- |
22-39137513-C-T |
SUN2 |
c.1195G>A |
p.Val399Ile |
Missense |
10/18 |
- |
1-147084965-C-T |
BCL9 |
c.337C>T |
p.Pro113Ser |
Missense |
5/10 |
- |
7-121718017-T-C |
AASS |
c.2537A>G |
p.His846Arg |
Missense |
23/24 |
- |
X-140993747-C-G |
MAGEC1 |
c.557C>G |
p.Thr186Ser |
Missense |
4/4 |
- |
11-1253691-C-T |
MUC5B |
c.1855C>T |
p.Arg619Trp |
Missense |
16/49 |
- |
11-1253691-C-G |
MUC5B |
c.1855C>G |
p.Arg619Gly |
Missense |
16/49 |
- |
1-6266749-C-T |
RNF207 |
c.154C>T |
p.Arg52Cys |
Missense |
2/18 |
- |
19-55748011-C-T |
PPP6R1 |
c.1988G>A |
p.Arg663Gln |
Missense |
17/24 |
- |
11-128354963-T-C |
ETS1 |
c.485A>G |
p.Tyr162Cys |
Missense |
5/8 |
- |
2-179600787-T-C |
TTN |
c.10654A>G |
p.Thr3552Ala |
Missense |
47/312 |
- |
9-123673673-T-C |
TRAF1 |
c.824A>G |
p.Asn275Ser |
Missense |
6/8 |
- |
19-35250448-C-T |
ZNF599 |
c.1258G>A |
p.Glu420Lys |
Missense |
4/4 |
- |
17-37872848-TG-T |
ERBB2 |
c.1727delG |
p.Cys576Phefs*29 |
Frameshift |
14/27 |
- |
17-27896342-C-T |
TP53I13 |
c.148C>T |
p.Pro50Ser |
Missense |
3/7 |
- |
6-170070759-G-T |
WDR27 |
c.362C>A |
p.Ser121* |
Nonsense |
4/26 |
- |
10-24813493-T-C |
KIAA1217 |
c.2698T>C |
p.Ser900Pro |
Missense |
13/21 |
- |
3-41949348-G-A |
ULK4 |
c.1171C>T |
p.Pro391Ser |
Missense |
12/37 |
- |
10-43882669-T-C |
HNRNPF |
c.664A>G |
p.Ile222Val |
Missense |
4/4 |
- |
17-45221273-A-C |
CDC27 |
c.1164T>G |
p.Phe388Leu |
Missense |
10/19 |
- |
14-64066066-C-T |
WDR89 |
c.595G>A |
p.Asp199Asn |
Missense |
3/3 |
- |
7-95222201-T-C |
PDK4 |
c.400A>G |
p.Met134Val |
Missense |
4/11 |
- |
1-113637053-G-A |
LRIG2 |
c.608G>A |
p.Arg203Gln |
Missense |
5/18 |
- |
19-9069507-G-T |
MUC16 |
c.17939C>A |
p.Thr5980Asn |
Missense |
3/84 |
- |
19-35250448-C-A |
ZNF599 |
c.1258G>T |
p.Glu420* |
Nonsense |
4/4 |
- |
2-179597590-T-C |
TTN |
c.12581A>G |
p.Lys4194Arg |
Missense |
52/312 |
- |
4-129891542-C-A |
SCLT1 |
c.768G>T |
p.Met256Ile |
Missense |
10/21 |
- |
X-2871204-C-G |
ARSE |
c.410G>C |
p.Gly137Ala |
Missense |
5/11 |
- |
X-2871204-C-A |
ARSE |
c.410G>T |
p.Gly137Val |
Missense |
5/11 |
- |
5-112176819-C-T |
APC |
c.5528C>T |
p.Pro1843Leu |
Missense |
16/16 |
- |
11-47363549-T-C |
MYBPC3 |
c.1783A>G |
p.Ile595Val |
Missense |
18/35 |
- |
7-95906535-C-T |
SLC25A13 |
c.185G>A |
p.Ser62Asn |
Missense |
3/18 |
- |
18-34298542-G-A |
FHOD3 |
c.2756G>A |
p.Arg919Gln |
Missense |
16/25 |
- |
1-43777350-G-A |
TIE1 |
c.1342G>A |
p.Val448Met |
Missense |
10/23 |
- |
17-48559671-C-T |
RSAD1 |
c.694C>T |
p.Arg232Trp |
Missense |
4/9 |
- |
10-50827796-C-A |
CHAT |
c.413C>A |
p.Pro138Gln |
Missense |
3/15 |
- |
10-50827796-C-T |
CHAT |
c.413C>T |
p.Pro138Leu |
Missense |
3/15 |
- |
10-50827796-C-G |
CHAT |
c.413C>G |
p.Pro138Arg |
Missense |
3/15 |
- |
3-185214748-G-C |
TMEM41A |
c.141C>G |
p.Asp47Glu |
Missense |
2/5 |
- |
1-216390763-G-T |
USH2A |
c.3123C>A |
p.His1041Gln |
Missense |
15/21 |
- |
7-111379198-G-A |
DOCK4 |
c.5197C>T |
p.Pro1733Ser |
Missense |
48/52 |
- |
17-33331503-G-A |
LIG3 |
c.3008G>A |
p.Arg1003Gln |
Missense |
20/20 |
- |
7-111379198-G-C |
DOCK4 |
c.5197C>G |
p.Pro1733Ala |
Missense |
48/52 |
- |
14-105609442-C-A |
JAG2 |
c.3307G>T |
p.Val1103Leu |
Missense |
26/26 |
- |
11-66460857-G-A |
SPTBN2 |
c.4654C>T |
p.Arg1552Cys |
Missense |
23/37 |
- |
13-77739411-A-T |
MYCBP2 |
c.6456T>A |
p.Asp2152Glu |
Missense |
42/83 |
- |
7-117250575-G-C |
CFTR |
c.2991G>C |
p.Leu997Phe |
Missense |
19/27 |
- |
17-37879690-AGA-TGT |
ERBB2 |
c.2065_2067delAGAinsTGT |
p.Arg689Cys |
Missense |
17/27 |
- |
4-184182568-A-G |
WWC2 |
c.1792A>G |
p.Ser598Gly |
Missense |
11/23 |
- |
3-50005855-G-A |
RBM6 |
c.997G>A |
p.Glu333Lys |
Missense |
3/21 |
- |
20-5935893-A-G |
MCM8 |
c.482A>G |
p.His161Arg |
Missense |
5/19 |
- |
21-45711025-C-G |
AIRE |
c.927C>G |
p.Ile309Met |
Missense |
8/14 |
- |
9-136595269-G-A |
SARDH |
c.731C>T |
p.Thr244Met |
Missense |
5/21 |
- |
17-7577093-CG-TA |
TP53 |
c.844_845delCGinsTA |
p.Arg282* |
Nonsense |
8/11 |
- |
2-170030537-G-A |
LRP2 |
c.10906C>T |
p.Arg3636Trp |
Missense |
56/79 |
- |
14-65258486-G-A |
SPTB |
c.2755C>T |
p.His919Tyr |
Missense |
14/35 |
- |
10-95093661-G-A |
MYOF |
c.4573C>T |
p.Arg1525Trp |
Missense |
42/54 |
- |
6-32729613-T-C |
HLA-DQB2 |
c.188A>G |
p.Glu63Gly |
Missense |
2/5 |
- |
18-46812845-T-G |
DYM |
c.905A>C |
p.Asn302Thr |
Missense |
9/17 |
- |
3-48677389-C-T |
CELSR3 |
c.9629G>A |
p.Arg3210Gln |
Missense |
34/35 |
- |
7-121638042-A-G |
PTPRZ1 |
c.1222A>G |
p.Met408Val |
Missense |
10/30 |
- |
13-32907140-AGA-TGG |
BRCA2 |
c.1525_1527delAGAinsTGG |
p.Arg509Trp |
Missense |
10/27 |
- |
12-117725949-C-T |
NOS1 |
c.1057G>A |
p.Val353Ile |
Missense |
5/29 |
- |
9-78973431-G-A |
PCSK5 |
c.5176G>A |
p.Glu1726Lys |
Missense |
37/37 |
- |
19-40581579-G-A |
ZNF780A |
c.770C>T |
p.Ser257Phe |
Missense |
6/6 |
- |
12-124907067-C-A |
NCOR2 |
c.1363G>T |
p.Ala455Ser |
Missense |
14/49 |
- |
20-61981555-G-A |
CHRNA4 |
c.1208C>T |
p.Pro403Leu |
Missense |
5/6 |
- |
1-6528150-T-G |
PLEKHG5 |
c.2746A>C |
p.Thr916Pro |
Missense |
20/21 |
- |
15-41308365-A-C |
INO80 |
c.3323T>G |
p.Val1108Gly |
Missense |
27/36 |
- |
20-62293880-C-T |
RTEL1 |
c.449C>T |
p.Thr150Met |
Missense |
5/35 |
- |
5-79026339-A-C |
CMYA5 |
c.1751A>C |
p.Glu584Ala |
Missense |
2/13 |
- |
11-134062648-C-A |
NCAPD3 |
c.1981G>T |
p.Asp661Tyr |
Missense |
16/35 |
- |
16-31143814-G-A |
PRSS8 |
c.641C>T |
p.Pro214Leu |
Missense |
5/6 |
- |
1-6528150-T-C |
PLEKHG5 |
c.2746A>G |
p.Thr916Ala |
Missense |
20/21 |
- |
3-39108050-T-G |
WDR48 |
c.280T>G |
p.Ser94Ala |
Missense |
4/19 |
- |
19-40582086-A-G |
ZNF780A |
c.263T>C |
p.Val88Ala |
Missense |
6/6 |
- |
2-24260860-G-A |
WDCP |
c.1505C>T |
p.Pro502Leu |
Missense |
2/4 |
- |
4-13603200-T-G |
BOD1L1 |
c.5324A>C |
p.Gln1775Pro |
Missense |
10/26 |
- |
19-50491689-C-A |
VRK3 |
c.1157G>T |
p.Gly386Val |
Missense |
12/15 |
- |
9-418173-A-C |
DOCK8 |
c.3806A>C |
p.Asn1269Thr |
Missense |
30/48 |
- |
4-13603200-T-A |
BOD1L1 |
c.5324A>T |
p.Gln1775Leu |
Missense |
10/26 |
- |
1-20005587-C-T |
HTR6 |
c.1049C>T |
p.Ser350Leu |
Missense |
3/3 |
- |
3-52548787-C-T |
STAB1 |
c.3749C>T |
p.Ser1250Leu |
Missense |
35/69 |
- |
12-18891703-C-T |
CAPZA3 |
c.501C>T |
p.Asn167Asn |
Synonymous |
1/1 |
- |
19-41515255-C-T |
CYP2B6 |
c.777C>T |
p.Ser259Ser |
Synonymous |
5/9 |
- |
5-79024949-G-A |
CMYA5 |
c.361G>A |
p.Val121Ile |
Missense |
2/13 |
- |
8-42167039-G-A |
IKBKB |
c.686+496G>A |
- |
IntronicSNV |
- |
7/20 |
1-94476377-C-T |
ABCA4 |
c.5693G>A |
p.Arg1898His |
Missense |
40/50 |
- |
9-35295780-C-G |
UNC13B |
c.614C>G |
p.Thr205Arg |
Missense |
8/39 |
- |
2-239040065-G-A |
ESPNL |
c.2710G>A |
p.Val904Met |
Missense |
9/9 |
- |
20-30729619-G-A |
TM9SF4 |
c.449G>A |
p.Arg150Gln |
Missense |
5/18 |
- |
7-47436435-C-G |
TNS3 |
c.986G>C |
p.Arg329Pro |
Missense |
16/31 |
- |
7-47436435-C-A |
TNS3 |
c.986G>T |
p.Arg329Leu |
Missense |
16/31 |
- |
2-179479607-G-T |
TTN |
c.41023C>A |
p.Pro13675Thr |
Missense |
209/312 |
- |
2-179479607-G-A |
TTN |
c.41023C>T |
p.Pro13675Ser |
Missense |
209/312 |
- |
2-179479607-G-C |
TTN |
c.41023C>G |
p.Pro13675Ala |
Missense |
209/312 |
- |
X-1554587-C-T |
ASMTL |
c.338G>A |
p.Arg113Gln |
Missense |
4/13 |
- |
19-36036001-T-C |
GAPDHS |
c.1156T>C |
p.Tyr386His |
Missense |
11/11 |
- |
15-52186062-C-G |
TMOD3 |
c.547C>G |
p.Pro183Ala |
Missense |
6/10 |
- |
3-39425226-A-G |
SLC25A38 |
c.11A>G |
p.Asn4Ser |
Missense |
1/7 |
- |
7-23016406-C-T |
FAM126A |
c.436G>A |
p.Ala146Thr |
Missense |
6/11 |
- |
13-32907480-C-T |
BRCA2 |
c.1865C>T |
p.Ala622Val |
Missense |
10/27 |
- |
15-62261612-T-C |
VPS13C |
c.2668A>G |
p.Thr890Ala |
Missense |
26/83 |
- |
3-48638472-T-C |
UQCRC1 |
c.902A>G |
p.Asn301Ser |
Missense |
8/13 |
- |
20-60886089-G-A |
LAMA5 |
c.10150C>T |
p.Arg3384Cys |
Missense |
74/80 |
- |
7-47436435-C-T |
TNS3 |
c.986G>A |
p.Arg329His |
Missense |
16/31 |
- |
17-7579524-GTGAACCATTGTTC-G |
TP53 |
c.151_163del13 |
p.Glu51Leufs*68 |
Frameshift |
4/11 |
- |
19-35758620-G-A |
LSR |
c.1840G>A |
p.Glu614Lys |
Missense |
8/9 |
- |
5-160047528-C-A |
ATP10B |
c.2242G>T |
p.Val748Leu |
Missense |
15/26 |
- |
17-8021612-C-A |
ALOXE3 |
c.93G>T |
p.Gln31His |
Missense |
2/16 |
- |
19-11363634-C-T |
DOCK6 |
c.133G>A |
p.Val45Ile |
Missense |
3/48 |
- |
13-32913207-C-T |
BRCA2 |
c.4715C>T |
p.Ala1572Val |
Missense |
11/27 |
- |
17-11840819-G-T |
DNAH9 |
c.12640G>T |
p.Gly4214Cys |
Missense |
66/69 |
- |
17-11840819-G-C |
DNAH9 |
c.12640G>C |
p.Gly4214Arg |
Missense |
66/69 |
- |
4-77230712-G-T |
FAM47E-STBD1 |
c.*386G>T |
- |
3-UTRSNV |
7/7 |
- |
17-48458188-G-A |
EME1 |
c.1601G>A |
p.Arg534His |
Missense |
9/9 |
- |
17-48458188-G-C |
EME1 |
c.1601G>C |
p.Arg534Pro |
Missense |
9/9 |
- |
X-140993885-C-T |
MAGEC1 |
c.695C>T |
p.Pro232Leu |
Missense |
4/4 |
- |
4-77230712-G-C |
FAM47E-STBD1 |
c.*386G>C |
- |
3-UTRSNV |
7/7 |
- |
1-26608831-C-A |
UBXN11 |
c.1423G>T |
p.Gly475Cys |
Missense |
15/15 |
- |
1-26608831-C-T |
UBXN11 |
c.1423G>A |
p.Gly475Ser |
Missense |
15/15 |
- |
4-89318021-T-G |
HERC6 |
c.906T>G |
p.Tyr302* |
Nonsense |
7/22 |
- |
1-85736519-G-T |
BCL10 |
c.128C>A |
p.Ala43Glu |
Missense |
2/3 |
- |
4-89318021-T-A |
HERC6 |
c.906T>A |
p.Tyr302* |
Nonsense |
7/22 |
- |
19-50918229-G-A |
POLD1 |
c.2546G>A |
p.Arg849His |
Missense |
20/27 |
- |
16-71103393-G-A |
HYDIN |
c.1832C>T |
p.Thr611Ile |
Missense |
14/19 |
- |
2-179600475-C-G |
TTN |
c.10966G>C |
p.Ala3656Pro |
Missense |
47/312 |
- |
10-95085594-T-C |
MYOF |
c.5260A>G |
p.Asn1754Asp |
Missense |
46/54 |
- |
18-50832036-G-A |
DCC |
c.2000G>A |
p.Arg667His |
Missense |
13/29 |
- |
4-8613762-G-T |
CPZ |
c.1203G>T |
p.Lys401Asn |
Missense |
7/10 |
- |
18-2694682-G-A |
SMCHD1 |
c.1031G>A |
p.Arg344Gln |
Missense |
8/48 |
- |
4-8613762-G-A |
CPZ |
c.1203G>A |
p.Lys401Lys |
Synonymous |
7/10 |
- |
1-110882077-G-C |
RBM15 |
c.50G>C |
p.Arg17Pro |
Missense |
1/3 |
- |
19-42342173-A-G |
LYPD4 |
c.374T>C |
p.Val125Ala |
Missense |
4/5 |
- |
7-99696247-C-T |
MCM7 |
c.146G>A |
p.Arg49Gln |
Missense |
5/14 |
- |
9-35295780-C-T |
UNC13B |
c.614C>T |
p.Thr205Ile |
Missense |
8/39 |
- |
1-160123000-G-A |
ATP1A4 |
c.193G>A |
p.Val65Met |
Missense |
2/22 |
- |
1-22846721-G-T |
ZBTB40 |
c.3001G>T |
p.Val1001Phe |
Missense |
14/18 |
- |
5-149449827-C-T |
CSF1R |
c.1237G>A |
p.Gly413Ser |
Missense |
9/22 |
- |
17-45234331-T-G |
CDC27 |
c.790A>C |
p.Thr264Pro |
Missense |
7/19 |
- |
12-117289603-A-G |
RNFT2 |
c.1201-852A>G |
- |
IntronicSNV |
- |
10/10 |
11-93494810-C-T |
C11orf54 |
c.754C>T |
p.Arg252Cys |
Missense |
8/8 |
- |
19-42814791-G-A |
PRR19 |
c.970G>A |
p.Asp324Asn |
Missense |
3/3 |
- |
12-18892040-A-C |
CAPZA3 |
c.838A>C |
p.Met280Leu |
Missense |
1/1 |
- |
6-111621304-T-A |
REV3L |
c.9308A>T |
p.Asn3103Ile |
Missense |
33/33 |
- |
12-2788668-C-T |
CACNA1C |
c.5150C>T |
p.Ala1717Val |
Missense |
42/47 |
- |
12-2788668-C-G |
CACNA1C |
c.5150C>G |
p.Ala1717Gly |
Missense |
42/47 |
- |
9-124081138-G-C |
GSN |
c.1324G>C |
p.Asp442His |
Missense |
9/17 |
- |
10-74594137-C-G |
MCU |
c.171C>G |
p.Ser57Ser |
Synonymous |
2/8 |
- |
1-90179936-C-T |
LRRC8C |
c.1807C>T |
p.Arg603Cys |
Missense |
3/3 |
- |
17-7579438-CCGCC-C |
TP53 |
c.247_250delGCGG |
p.Ala83Profs*39 |
Frameshift |
4/11 |
- |
11-43465025-G-A |
TTC17 |
c.2402G>A |
p.Arg801His |
Missense |
17/24 |
- |
14-50122494-G-T |
POLE2 |
c.823C>A |
p.Leu275Ile |
Missense |
11/19 |
- |
1-248637549-A-G |
OR2T3 |
c.898A>G |
p.Lys300Glu |
Missense |
1/1 |
- |
7-100684773-C-A |
MUC17 |
c.10076C>A |
p.Thr3359Asn |
Missense |
3/13 |
- |
20-47558417-C-T |
ARFGEF2 |
c.169C>T |
p.Pro57Ser |
Missense |
3/39 |
- |
10-74594137-C-T |
MCU |
c.171C>T |
p.Ser57Ser |
Synonymous |
2/8 |
- |
10-95093661-G-T |
MYOF |
c.4573C>A |
p.Arg1525Arg |
Synonymous |
42/54 |
- |
3-51673633-G-T |
RAD54L2 |
c.2059G>T |
p.Val687Phe |
Missense |
13/23 |
- |
4-72363294-A-T |
SLC4A4 |
c.1919A>T |
p.Asn640Ile |
Missense |
13/23 |
- |