Q86XL3
PR
Gene name |
ANKLE2 (KIAA0692, LEM4) |
Protein name |
Ankyrin repeat and LEM domain-containing protein 2 |
Names |
LEM domain-containing protein 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23141 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q86XL3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86XL3-F1 | Predicted | AlphaFoldDB |
839 variants for Q86XL3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA246319601 RCV001332019 rs865818494 RCV000995022 RCV002549893 |
7 | A>T | Microcephaly 16, primary, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs986142623 CA246319595 VAR_083604 |
8 | A>V | MCPH16; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
| VAR_083605 | 27 | A>G | MCPH16; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_083606 | 109 | A>P | MCPH16 [UniProt] | Yes | UniProt |
|
rs1185537869 RCV000786054 VAR_083607 CA387361750 |
201 | G>W | Microcephaly 16, primary, autosomal recessive MCPH16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_083608 | 229 | V>G | MCPH16; unknown pathological significance; severe loss of VRK1 nuclear localization in non-dividing cells [UniProt] | Yes | UniProt |
|
VAR_083609 rs753596204 CA6895890 |
236 | R>missing | MCPH16; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
VAR_083609 rs753596204 |
236 | R>del | MCPH16; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001265945 CA6895816 rs778886674 |
314 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000661944 rs117750374 CA387357930 |
354 | V>M | Microcephaly 16, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6895733 RCV000995021 RCV002549892 rs768887386 |
399 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6895580 RCV001092703 RCV002554854 rs376751372 |
500 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6895566 RCV002549891 COSM1476355 RCV000995020 rs201586661 |
516 | P>L | Variant assessed as Somatic; 0.0 impact. breast Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs761627940 RCV001257122 COSM204107 VAR_083610 CA6895534 |
536 | R>C | Microcephaly 16, primary, autosomal recessive Variant assessed as Somatic; 0.0 impact. large_intestine endometrium MCPH16; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA387353700 rs1334824087 RCV000678275 |
563 | E>K | Microcephaly 16, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000202421 RCV000203271 CA215062 VAR_076205 rs863225465 |
573 | L>V | Microcephaly 16, primary, autosomal recessive Microcephaly MCPH16; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_083611 | 585 | G>V | MCPH16; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA387352395 rs1380982250 RCV001268940 |
624 | R>* | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs547572056 RCV000915771 RCV002540897 CA6895456 |
625 | D>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000202417 VAR_083612 RCV000203262 rs201785518 RCV001092702 CA215060 |
782 | Q>missing | Microcephaly 16, primary, autosomal recessive MCPH16 Microcephaly [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_083612 rs201785518 |
782 | Q>del | MCPH16 [UniProt] | Yes |
UniProt dbSNP |
|
rs753976276 CA6895233 RCV001332020 |
823 | R>W | Microcephaly 16, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs185739493 CA6895179 COSM236349 RCV002539425 RCV000894367 |
847 | V>I | autonomic_ganglia Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6896065 rs768793081 |
2 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246319607 rs923652030 |
3 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA246319604 rs1042543273 |
4 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1379492904 CA387365307 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA387365289 rs1176426547 |
5 | R>L | No |
ClinGen TOPMed |
|
|
rs1593192966 CA387365295 |
5 | R>W | No |
ClinGen Ensembl |
|
|
rs1221157843 CA387365176 |
13 | A>G | No |
ClinGen TOPMed |
|
|
CA6896064 rs749880399 |
13 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305324018 CA387365156 |
15 | A>S | No |
ClinGen gnomAD |
|
|
rs780694166 CA6896063 |
16 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA387365118 rs1158047576 |
17 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA387365106 rs1398788259 |
17 | E>D | No |
ClinGen gnomAD |
|
|
CA387365120 rs1158047576 |
17 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1255959169 CA387365066 |
20 | G>V | No |
ClinGen TOPMed |
|
|
CA387365004 rs1453256264 |
25 | L>P | No |
ClinGen gnomAD |
|
|
rs1369772812 CA387365002 |
26 | I>L | No |
ClinGen gnomAD |
|
|
CA387364962 rs1189947782 |
29 | R>W | No |
ClinGen gnomAD |
|
|
rs1214061340 CA387364909 |
33 | R>Q | No |
ClinGen gnomAD |
|
|
CA387364912 rs1242068778 |
33 | R>W | No |
ClinGen gnomAD |
|
|
rs1233913710 CA387364865 |
37 | P>A | No |
ClinGen gnomAD |
|
|
CA246319573 rs922629529 |
37 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387364862 rs1233913710 |
37 | P>S | No |
ClinGen gnomAD |
|
|
CA387364848 rs1299825703 |
38 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387364849 rs1299825703 |
38 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs976777179 CA246319570 |
38 | R>W | No |
ClinGen TOPMed |
|
|
rs1362551748 CA387364774 |
44 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1362551748 CA387364777 |
44 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387364784 rs1293684749 |
44 | R>S | No |
ClinGen TOPMed |
|
|
rs1593192749 CA387364741 |
46 | G>R | No |
ClinGen Ensembl |
|
|
CA246319562 rs936277213 |
47 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 47 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961456578 CA246319559 |
50 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1360744461 CA387364691 |
51 | P>L | No |
ClinGen gnomAD |
|
|
CA387364695 rs1428383686 |
51 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387364680 rs1220445499 |
52 | P>L | No |
ClinGen TOPMed |
|
|
CA387364646 rs1245255317 |
56 | A>P | No |
ClinGen TOPMed |
|
|
rs1015658180 CA246319553 |
56 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387364630 rs1174045591 |
57 | A>V | No |
ClinGen gnomAD |
|
|
CA246319545 rs906338829 |
58 | P>A | No |
ClinGen TOPMed |
|
|
rs906338829 CA387364626 |
58 | P>S | No |
ClinGen TOPMed |
|
|
CA387364616 rs1419429681 |
59 | A>D | No |
ClinGen TOPMed |
|
|
rs1453033691 CA387364617 |
59 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6896038 rs372117090 |
61 | G>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA387362929 rs1309513942 |
62 | E>G | No |
ClinGen gnomAD |
|
|
rs1462045652 CA387362894 |
64 | T>K | No |
ClinGen gnomAD |
|
|
CA6896029 rs781423110 |
65 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6896030 rs374594760 |
65 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6896028 rs757575242 |
67 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474456637 CA387362842 |
71 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387362843 rs1474456637 |
71 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6896027 rs200911469 |
71 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000224627 CA6896026 rs200911469 |
71 | R>Q | Variant assessed as Somatic; 0.0006397 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6896024 rs752169425 |
73 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs764762501 CA6896023 |
74 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs200115455 CA6896022 |
77 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387362799 rs202123635 |
78 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6896019 rs760538071 |
78 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs202123635 CA6896020 |
78 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6896017 rs764381018 |
81 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763229077 CA6896016 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA387362770 rs1295902211 |
83 | E>K | No |
ClinGen gnomAD |
|
|
rs1459010237 CA387362761 |
84 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6896014 rs769851905 |
85 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6896013 rs746364153 |
87 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs377454442 CA6896011 |
88 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777439345 CA6896009 |
93 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747746964 CA6896007 |
94 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM468052 CA6896008 rs747746964 |
94 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1488871290 CA387362690 |
95 | T>I | No |
ClinGen gnomAD |
|
|
CA387362669 rs1306305987 |
99 | R>G | No |
ClinGen TOPMed |
|
|
rs754509463 CA6896005 |
100 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6896004 rs753780925 |
101 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs780023574 CA6896003 |
104 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246314760 rs756014205 |
104 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593181937 CA387362614 |
106 | L>F | No |
ClinGen Ensembl |
|
|
CA387362619 rs1566037567 |
106 | L>M | No |
ClinGen Ensembl |
|
|
rs760652537 CA246314758 |
109 | A>S | No |
ClinGen Ensembl |
|
|
CA246314754 rs773451410 |
109 | A>V | No |
ClinGen Ensembl |
|
|
rs750274925 CA6896000 |
110 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371172104 CA387362580 |
112 | E>G | No |
ClinGen gnomAD |
|
|
CA6895999 rs767372542 |
112 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA246314742 rs772026126 |
113 | Q>R | No |
ClinGen Ensembl |
|
|
rs1324652874 CA387362569 |
114 | G>R | No |
ClinGen gnomAD |
|
|
rs1391511933 CA387362563 |
115 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1159461093 CA387362558 |
115 | G>V | No |
ClinGen gnomAD |
|
|
CA387362553 rs1453560378 |
116 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA246314733 COSM547278 rs376564536 |
116 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA387362548 rs1362246440 |
117 | L>P | No |
ClinGen gnomAD |
|
|
rs374445290 CA246314732 |
119 | S>A | No |
ClinGen Ensembl |
|
|
CA387362533 rs1342480373 |
120 | F>V | No |
ClinGen TOPMed |
|
|
rs867590044 CA246314721 |
121 | Y>C | No |
ClinGen Ensembl |
|
|
CA6895997 rs765299757 |
121 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA6895996 rs765299757 |
121 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA246314673 rs17846347 |
122 | H>L | No |
ClinGen Ensembl |
|
|
CA246314692 rs17846347 |
122 | H>P | No |
ClinGen Ensembl |
|
|
rs1132375 VAR_031097 CA6895994 |
122 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1205477385 CA387362513 |
123 | H>R | No |
ClinGen gnomAD |
|
|
rs1566037316 CA387362508 |
124 | E>Q | No |
ClinGen Ensembl |
|
|
CA6895990 rs773587421 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772358736 CA6895989 |
127 | V>I | No |
ClinGen ExAC |
|
|
rs768103811 CA6895986 |
134 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748801442 CA6895985 |
137 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748801442 CA246314641 |
137 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387362423 rs1370029773 |
137 | I>V | No |
ClinGen TOPMed |
|
|
CA387362417 rs1366175930 |
138 | L>V | No |
ClinGen TOPMed |
|
|
rs779391711 CA6895984 |
138 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6895981 rs373457709 |
141 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387362382 rs1296778538 |
143 | G>E | No |
ClinGen TOPMed |
|
|
CA6895980 rs757112406 |
144 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752920481 CA6895979 |
145 | P>A | No |
ClinGen ExAC |
|
|
CA387362372 COSM273976 rs752920481 |
145 | P>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA387362366 rs1271957963 |
146 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 146 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_031098 rs7968520 CA6895978 |
148 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA246314550 rs546278482 |
148 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs993768181 CA246314546 |
149 | A>P | No |
ClinGen TOPMed |
|
|
CA387362342 rs1487489591 |
150 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375283977 CA6895973 |
156 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895974 rs761181179 |
156 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895975 rs766394262 |
156 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6895971 rs199508652 |
160 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6895970 rs199508652 |
160 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs899341944 CA246314509 |
161 | V>M | No |
ClinGen gnomAD |
|
|
CA6895969 rs768387020 |
162 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895965 rs745865070 |
165 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs769365071 CA6895966 |
165 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387362190 rs1289906914 |
167 | E>G | No |
ClinGen TOPMed |
|
|
CA6895964 rs781260812 |
168 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1336511466 CA387362170 |
169 | E>K | No |
ClinGen gnomAD |
|
|
rs757167413 CA6895963 |
171 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1391296885 CA387362132 |
172 | T>A | No |
ClinGen TOPMed |
|
|
CA6895962 rs746784077 |
174 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1431696182 CA387362089 |
175 | T>S | No |
ClinGen gnomAD |
|
|
CA387362073 rs1433434442 |
176 | C>Y | No |
ClinGen TOPMed |
|
|
RCV000974391 rs185977448 CA6895960 |
177 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1001230628 CA246314469 |
177 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs185977448 CA246314464 |
177 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6895958 rs756176214 |
179 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756176214 CA6895957 |
179 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387362042 rs756176214 |
179 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895954 rs1268764905 |
181 | S>G | No |
ClinGen TOPMed |
|
|
CA387361994 rs1206639804 |
182 | D>V | No |
ClinGen TOPMed |
|
|
CA6895952 rs143993868 |
184 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387361968 rs1439207764 |
184 | D>V | No |
ClinGen gnomAD |
|
|
rs368798125 CA6895951 |
185 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895950 rs368798125 |
185 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895949 rs368798125 |
185 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895948 rs373393599 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387361878 rs1295702572 |
191 | T>I | No |
ClinGen gnomAD |
|
|
rs745348245 CA387361869 |
192 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745348245 CA6895946 |
192 | A>V | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387361853 rs1462177631 |
194 | K>T | No |
ClinGen gnomAD |
|
|
CA6895942 rs777634719 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6895943 rs746868924 |
195 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs947292386 CA246314363 |
195 | E>K | No |
ClinGen Ensembl |
|
|
CA246314347 rs754032001 |
196 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1448334033 CA387361812 |
197 | P>H | No |
ClinGen TOPMed |
|
|
rs749585717 CA6895940 |
197 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6895938 rs756229664 |
198 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6895937 rs750537499 |
200 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1461757920 CA387361774 |
200 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1461757920 CA387361775 |
200 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA387361738 rs1376508372 |
202 | V>M | No |
ClinGen TOPMed |
|
|
rs757800092 CA6895935 |
203 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA387361703 rs1227294070 |
204 | P>S | No |
ClinGen TOPMed |
|
|
rs1275589523 CA387361682 |
205 | V>A | No |
ClinGen gnomAD |
|
|
CA387361642 rs1249134927 |
208 | D>N | No |
ClinGen TOPMed |
|
|
CA6895929 rs374728589 |
209 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895930 rs374728589 |
209 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895928 rs759223634 |
210 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6895927 rs200471033 COSM459605 |
211 | A>V | cervix [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs746968725 CA6895925 |
214 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200573141 CA246310627 |
215 | R>T | No |
ClinGen Ensembl |
|
|
rs781259441 CA6895898 |
217 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771090157 CA6895897 |
220 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6895895 rs777865736 |
225 | A>E | No |
ClinGen ExAC |
|
|
rs1269329321 CA387360483 |
225 | A>T | No |
ClinGen gnomAD |
|
|
CA387360476 rs1397969020 |
226 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387360457 rs1444995716 |
229 | V>L | No |
ClinGen gnomAD |
|
|
rs955480010 CA246310608 |
230 | K>R | No |
ClinGen Ensembl |
|
|
CA6895893 rs753196325 |
231 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6895892 rs779423662 |
232 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs375763631 CA6895891 |
234 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1483776717 CA6895888 |
236 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387360406 rs1200744735 |
237 | F>Y | No |
ClinGen TOPMed |
|
|
rs765918040 CA6895887 |
239 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1429585300 CA387360393 |
239 | A>T | No |
ClinGen gnomAD |
|
|
CA387360375 rs1476413786 |
241 | S>F | No |
ClinGen gnomAD |
|
|
rs1185119740 CA387360380 |
241 | S>P | No |
ClinGen gnomAD |
|
|
CA6895886 rs760335562 |
242 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895883 rs761747189 |
246 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs371243853 CA6895882 |
248 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156680901 CA387360314 |
250 | A>G | No |
ClinGen TOPMed |
|
|
CA387360318 rs1272258269 |
250 | A>T | No |
ClinGen gnomAD |
|
|
CA6895880 rs762711559 |
252 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6895878 rs771085828 |
256 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376555642 CA387360248 |
260 | P>L | No |
ClinGen gnomAD |
|
|
rs773177486 CA6895876 |
260 | P>S | No |
ClinGen ExAC |
|
|
CA6895874 rs1180878021 |
263 | T>M | No |
ClinGen TOPMed |
|
|
rs1323956207 CA387360184 |
265 | L>F | No |
ClinGen gnomAD |
|
|
rs772211069 CA6895873 |
265 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354431244 CA387360176 |
266 | P>R | No |
ClinGen gnomAD |
|
|
rs748729766 CA6895871 |
266 | P>T | No |
ClinGen ExAC |
|
|
rs1379782615 CA387360167 |
267 | L>P | No |
ClinGen TOPMed |
|
|
rs779548290 CA6895870 |
268 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA387360159 rs1169243050 |
268 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | P>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6895869 rs373038439 |
269 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160165374 CA387360128 |
271 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749648215 CA6895868 |
273 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6895867 rs780418970 |
273 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755735466 CA6895866 |
274 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566032769 CA387360092 |
274 | P>S | No |
ClinGen Ensembl |
|
|
rs1362965956 CA387360071 |
276 | F>L | No |
ClinGen gnomAD |
|
|
CA6895863 rs756750132 |
277 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6895862 rs751549374 |
278 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196617115 CA387359970 |
283 | D>H | No |
ClinGen gnomAD |
|
|
CA387359110 rs1387524171 |
284 | G>S | No |
ClinGen gnomAD |
|
|
CA387359078 rs1453275908 |
286 | C>R | No |
ClinGen gnomAD |
|
|
RCV002252267 rs185584106 RCV000905119 CA6895836 |
288 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1482171374 CA387359012 |
291 | E>Q | No |
ClinGen TOPMed |
|
|
CA387358983 rs1454793811 |
293 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA387358987 rs1454793811 |
293 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767885706 CA6895833 |
294 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895834 rs767885706 |
294 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895832 rs762079853 |
297 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387358931 rs762079853 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895831 rs774587412 |
297 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036751408 CA246308969 |
298 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1036751408 CA387358916 |
298 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA246308965 rs957344384 |
300 | S>G | No |
ClinGen Ensembl |
|
|
CA387358875 rs1205530198 |
301 | Y>H | No |
ClinGen gnomAD |
|
|
rs1174019995 CA387358824 |
303 | N>S | No |
ClinGen gnomAD |
|
|
CA387358826 rs1174019995 |
303 | N>T | No |
ClinGen gnomAD |
|
|
CA6895829 rs763439877 |
304 | P>A | No |
ClinGen ExAC |
|
|
CA6895828 rs776056576 |
305 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372791466 CA6895825 |
305 | R>H | No |
ClinGen TOPMed |
|
|
rs1372791466 CA6895826 |
305 | R>L | No |
ClinGen TOPMed |
|
|
CA6895823 rs369555821 COSM1582130 |
306 | T>M | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6895824 rs770106915 |
306 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6895821 rs193227466 |
307 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA246308926 rs567742205 |
311 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567742205 CA6895818 |
311 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539062275 CA6895817 |
314 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6895814 rs753709949 |
315 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1344001103 CA387358631 |
316 | A>T | No |
ClinGen TOPMed |
|
|
CA387358622 rs1476975843 |
316 | A>V | No |
ClinGen gnomAD |
|
|
rs766219520 CA6895813 |
323 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488868843 CA387358404 |
329 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387358361 rs1477413314 |
331 | S>N | No |
ClinGen gnomAD |
|
|
rs1243308740 CA387358349 |
331 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6895812 rs369716027 |
332 | N>S | No |
ClinGen ESP ExAC |
|
|
rs764142764 CA246308895 |
334 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895809 rs763068390 |
334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764142764 COSM937358 CA6895810 |
334 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387358302 rs1593170722 |
335 | Y>H | No |
ClinGen Ensembl |
|
|
CA387358276 rs1454271790 |
336 | L>R | No |
ClinGen TOPMed |
|
|
rs770362496 CA6895807 |
339 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1428161613 CA387358182 |
342 | N>T | No |
ClinGen TOPMed |
|
|
CA6895805 rs776990143 |
343 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1227144618 CA387358159 |
343 | P>L | No |
ClinGen gnomAD |
|
|
CA6895804 rs530285884 |
345 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777390957 CA6895802 |
346 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs771529368 CA6895801 |
347 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238124575 CA387358028 |
348 | E>K | No |
ClinGen gnomAD |
|
|
CA387357990 rs1317524116 |
350 | C>S | No |
ClinGen TOPMed |
|
|
rs751768039 CA6895760 |
352 | Y>* | No |
ClinGen ExAC |
|
|
rs1349027758 CA387357945 |
353 | N>D | No |
ClinGen gnomAD |
|
|
CA6895761 rs117750374 |
354 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408295069 CA387357920 |
355 | M>V | No |
ClinGen gnomAD |
|
|
CA246308693 rs997651638 |
357 | V>I | No |
ClinGen TOPMed |
|
|
rs993389476 CA246308690 |
359 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA246308685 rs958839357 |
360 | K>R | No |
ClinGen TOPMed |
|
|
CA246308683 rs901973514 |
361 | E>G | No |
ClinGen TOPMed |
|
|
rs1245305132 CA387357782 |
363 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1218415939 CA387357762 |
364 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 365 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6895758 rs775102809 |
368 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1015592396 CA246308666 |
371 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6895756 rs781042749 |
373 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM692178 CA6895755 rs781042749 |
373 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387357598 rs1432694439 |
374 | L>P | No |
ClinGen gnomAD |
|
|
CA387357593 rs1425697156 |
375 | E>K | No |
ClinGen TOPMed |
|
|
rs888113701 CA246308656 |
376 | N>Y | No |
ClinGen Ensembl |
|
|
CA6895753 rs371085579 |
377 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895752 rs377650820 |
377 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387357484 rs1374621595 |
381 | R>G | No |
ClinGen TOPMed |
|
|
rs780059251 CA6895749 |
383 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA387357449 rs1423748351 |
383 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756619886 CA6895748 |
384 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1475985543 CA387357428 |
384 | Y>H | No |
ClinGen gnomAD |
|
|
CA387357425 rs1593169874 |
384 | Y>S | No |
ClinGen Ensembl |
|
|
rs750889692 CA6895747 |
385 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs767984368 CA6895746 |
386 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895744 rs566773370 |
388 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6895743 rs566773370 |
388 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6895740 rs769360890 |
389 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6895741 rs369339437 |
389 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593169821 CA387357313 |
390 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 390 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 390 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566029633 CA387357298 |
391 | M>V | No |
ClinGen Ensembl |
|
|
CA6895739 rs759581397 |
394 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1277337025 CA387357229 COSM937357 |
395 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776416320 CA6895738 |
395 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1476356 rs889582581 CA246308624 |
397 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6895736 rs376116293 |
397 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376116293 CA387357183 |
397 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553392569 CA6895735 |
398 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA6895734 rs766635514 |
398 | Y>* | No |
ClinGen ExAC |
|
|
CA387357161 rs1173240311 |
400 | V>L | No |
ClinGen gnomAD |
|
|
rs1435570527 CA387357153 |
401 | D>Y | No |
ClinGen TOPMed |
|
|
rs1593169723 CA387357128 |
403 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 404 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 406 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387357093 rs1476279584 |
406 | T>N | No |
ClinGen gnomAD |
|
|
rs780175293 CA6895730 |
406 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA387357068 rs1181322559 |
407 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868653360 CA246308590 |
409 | K>Q | No |
ClinGen Ensembl |
|
|
rs757745104 CA6895726 |
410 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6895699 rs754617315 |
412 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6895700 rs764951124 |
412 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753311006 CA6895698 |
413 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs760057427 CA6895697 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 417 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387356143 rs1347226009 |
418 | F>L | No |
ClinGen gnomAD |
|
|
CA6895695 rs773120977 |
419 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439240796 CA387356125 |
420 | C>Y | No |
ClinGen gnomAD |
|
|
CA387356118 rs1430338866 |
421 | K>R | No |
ClinGen TOPMed |
|
|
rs767351289 CA6895694 |
423 | G>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000969278 rs80280706 CA6895693 |
426 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA246300929 rs967101302 |
428 | V>I | No |
ClinGen gnomAD |
|
|
CA6895691 rs552198976 |
429 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6895690 rs746049596 |
430 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771035135 CA6895688 COSM259429 |
432 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6895686 rs778400504 |
434 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758871645 CA6895685 |
435 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246300861 rs532089815 |
436 | L>W | No |
ClinGen 1000Genomes |
|
|
CA387356020 rs1407845749 |
437 | I>L | No |
ClinGen TOPMed |
|
|
CA6895683 rs779286233 |
438 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387355957 rs1220719758 |
445 | Y>* | No |
ClinGen TOPMed |
|
|
rs1385493686 CA387355959 |
445 | Y>C | No |
ClinGen gnomAD |
|
|
rs1276827547 CA387355946 |
447 | K>E | No |
ClinGen TOPMed |
|
|
CA387355933 rs1358633949 |
449 | P>T | No |
ClinGen gnomAD |
|
|
CA246300797 rs888313236 |
450 | E>K | No |
ClinGen Ensembl |
|
|
CA387355916 rs1467475591 |
451 | D>G | No |
ClinGen gnomAD |
|
|
CA6895645 rs766653140 |
452 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA387355886 rs1438388456 |
454 | C>G | No |
ClinGen gnomAD |
|
|
CA387355887 rs1438388456 |
454 | C>R | No |
ClinGen gnomAD |
|
|
rs760930475 CA6895644 |
454 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6895643 rs768450086 |
457 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1451222684 CA387355856 |
458 | K>R | No |
ClinGen gnomAD |
|
|
CA6895642 rs772211219 |
459 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA387355839 rs1323999490 |
460 | K>I | No |
ClinGen TOPMed |
|
|
CA246298940 rs1027194028 |
460 | K>N | No |
ClinGen Ensembl |
|
|
CA387355830 rs1566022981 |
461 | S>F | No |
ClinGen Ensembl |
|
|
CA246298933 rs911776779 |
461 | S>P | No |
ClinGen TOPMed |
|
|
rs1354432867 CA387355815 |
463 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6895640 rs762476408 |
466 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs372052772 CA6895639 COSM1360288 |
467 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA387355772 rs1239292815 |
467 | R>W | No |
ClinGen gnomAD |
|
|
CA6895637 rs749695552 |
468 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs369042209 CA6895638 |
468 | I>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1436976721 CA387355732 |
471 | Y>D | No |
ClinGen gnomAD |
|
|
CA387355719 rs780234820 |
472 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs780750833 CA6895633 |
473 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200479549 CA6895634 |
473 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756743829 CA6895632 |
474 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566019436 CA387355209 |
474 | G>V | No |
ClinGen Ensembl |
|
|
CA387355196 rs1188476310 |
476 | Y>H | No |
ClinGen TOPMed |
|
|
CA387355174 rs1244209929 |
477 | Y>C | No |
ClinGen TOPMed |
|
|
rs971697002 CA246294830 |
478 | V>M | No |
ClinGen TOPMed |
|
|
rs1566019361 CA387355139 |
481 | L>V | No |
ClinGen Ensembl |
|
|
rs770590525 CA6895595 |
483 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895593 rs372453034 |
484 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748174268 CA6895591 |
487 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1010282182 CA246294768 |
489 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1037381452 CA246294769 |
489 | P>S | No |
ClinGen Ensembl |
|
|
rs546723852 CA6895588 |
491 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448179064 CA387355031 |
492 | G>R | No |
ClinGen gnomAD |
|
|
CA387355006 rs550549440 |
493 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6895583 rs764295659 |
496 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6895582 rs758390746 |
498 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6895581 rs753238591 |
499 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895578 rs776990489 |
503 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA387354802 rs1489242052 |
505 | H>N | No |
ClinGen gnomAD |
|
|
CA387354794 rs372001887 |
505 | H>P | No |
ClinGen ESP ExAC |
|
|
rs372001887 CA6895577 |
505 | H>R | No |
ClinGen ESP ExAC |
|
|
CA387354799 rs1489242052 |
505 | H>Y | No |
ClinGen gnomAD |
|
|
rs1593151450 CA387354773 |
506 | V>A | No |
ClinGen Ensembl |
|
|
CA6895575 COSM144687 rs201450043 |
506 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387354763 rs1251600631 |
507 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387354757 rs1237233984 |
507 | S>I | No |
ClinGen TOPMed |
|
|
rs375739279 CA6895573 |
508 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375739279 CA6895572 |
508 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528470040 CA6895571 |
508 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA246294654 rs932434284 |
509 | Y>C | No |
ClinGen gnomAD |
|
|
rs749173397 CA6895570 |
511 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs947414447 CA246294603 |
512 | S>G | No |
ClinGen TOPMed |
|
|
rs375522843 CA6895569 |
512 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1158360789 CA387354700 |
512 | S>R | No |
ClinGen TOPMed |
|
|
rs375522843 CA387354703 |
512 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769466853 CA6895568 |
513 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs913213456 CA246294601 |
513 | P>S | No |
ClinGen Ensembl |
|
|
rs747309779 CA6895567 |
514 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1156667352 CA387354648 |
518 | L>V | No |
ClinGen gnomAD |
|
|
rs755479066 CA6895562 |
524 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387354497 rs1315162263 |
531 | K>R | No |
ClinGen gnomAD |
|
|
rs534331014 CA6895535 |
533 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1468097077 COSM692180 CA387354230 |
533 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6895533 rs751246267 COSM1360287 |
536 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6895531 rs762525347 |
542 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6895530 rs140128383 |
542 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762525347 CA6895532 |
542 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA246293183 rs764711792 |
543 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 544 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387354050 rs1243143067 |
544 | R>G | No |
ClinGen gnomAD |
|
|
CA6895529 rs548791422 |
544 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459328906 CA387354042 |
545 | E>* | No |
ClinGen gnomAD |
|
|
CA387353989 rs1195400422 |
547 | A>G | No |
ClinGen gnomAD |
|
|
CA6895528 rs201575018 |
547 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6895527 rs202029547 |
549 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490379824 CA387353948 |
550 | L>I | No |
ClinGen Ensembl |
|
|
rs748425916 CA6895525 |
551 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1460837662 CA387353819 |
555 | K>N | No |
ClinGen TOPMed |
|
|
rs200193067 CA6895523 |
556 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6895520 rs756582528 |
558 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387353770 rs756582528 |
558 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456197717 CA387353744 |
560 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291484114 CA387353707 |
562 | F>S | No |
ClinGen TOPMed |
|
|
CA387353698 rs1334824087 |
563 | E>Q | No |
ClinGen TOPMed |
|
|
rs1593148285 CA387353635 |
565 | V>G | No |
ClinGen Ensembl |
|
|
rs989730789 CA246293124 |
565 | V>M | No |
ClinGen Ensembl |
|
|
rs1054271740 CA246292496 |
568 | E>D | No |
ClinGen TOPMed |
|
|
CA6895485 rs753760285 |
568 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760547614 CA6895484 |
569 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895482 rs750223096 |
571 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1401383828 CA387352927 |
575 | Y>H | No |
ClinGen gnomAD |
|
|
CA387352918 rs1361719987 |
576 | P>H | No |
ClinGen gnomAD |
|
|
rs1361719987 CA387352917 |
576 | P>R | No |
ClinGen gnomAD |
|
|
rs1036962516 CA246292427 |
576 | P>S | No |
ClinGen TOPMed |
|
|
CA6895479 rs775756458 |
578 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763140805 CA6895480 |
578 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs936724670 CA246292388 |
579 | E>Q | No |
ClinGen Ensembl |
|
|
rs1173577833 CA387352820 |
587 | F>C | No |
ClinGen gnomAD |
|
|
rs1480214140 CA387352802 |
588 | V>A | No |
ClinGen gnomAD |
|
|
rs1195916127 CA387352795 |
589 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA387352762 rs1241597421 |
591 | S>C | No |
ClinGen gnomAD |
|
|
rs1241597421 CA387352761 |
591 | S>F | No |
ClinGen gnomAD |
|
|
CA246292350 rs377362050 |
593 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6895475 rs377362050 |
593 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1445237824 CA387352725 |
594 | E>K | No |
ClinGen gnomAD |
|
|
rs747456399 CA6895474 |
596 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6895473 rs778351740 |
597 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772473619 CA6895472 |
598 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA387352670 rs772473619 |
598 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA387352663 rs1361959721 |
598 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6895470 rs201330179 RCV000901271 |
603 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387352601 rs201330179 |
603 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6895469 rs754548552 |
604 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387352577 rs1271671299 |
605 | Q>* | No |
ClinGen TOPMed |
|
|
rs1173001855 CA387352536 |
607 | E>D | No |
ClinGen gnomAD |
|
|
CA387352548 rs1404377742 |
607 | E>K | No |
ClinGen gnomAD |
|
|
rs200076688 CA6895467 |
608 | I>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6895468 rs200076688 |
608 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574807593 CA6895466 |
611 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs918144102 CA246292313 |
612 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200737132 CA6895464 |
612 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs916526087 CA246292310 |
613 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751269982 CA6895463 |
614 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751269982 CA6895462 |
614 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575973237 CA246292301 |
616 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 617 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307739206 CA387352427 |
618 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6895459 rs776858676 |
619 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376144886 CA6895460 |
619 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201465962 CA246292264 |
621 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6895458 rs771133706 |
622 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA387352391 rs1219299634 |
625 | D>N | No |
ClinGen Ensembl |
|
|
rs1451883128 CA387352382 |
626 | K>E | No |
ClinGen TOPMed |
|
|
CA387352361 rs77542033 |
629 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77542033 CA6895454 |
629 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6895452 rs768358739 |
630 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6895391 rs532401958 RCV000973729 |
632 | S>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA6895390 rs756409972 |
633 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs368378205 CA6895389 |
633 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895388 rs368378205 |
633 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895387 rs757250566 |
634 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751615849 CA6895386 |
636 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs371039454 CA387408528 |
637 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371039454 CA6895384 |
637 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246339134 rs1001373555 |
639 | A>V | Variant assessed as Somatic; 5.132e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387408451 rs1464642803 |
642 | D>E | No |
ClinGen TOPMed |
|
|
CA6895381 rs759295270 |
642 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410208765 CA387408426 |
644 | D>N | No |
ClinGen gnomAD |
|
|
rs1393630920 CA387408395 |
645 | D>A | No |
ClinGen gnomAD |
|
|
rs770518021 CA6895379 |
646 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895378 rs770518021 |
646 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149597645 CA6895377 |
647 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387408331 rs1162039531 |
648 | L>S | No |
ClinGen gnomAD |
|
|
rs1471330894 CA387408303 |
649 | E>D | No |
ClinGen gnomAD |
|
|
CA246339114 rs200712215 COSM1746856 |
650 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA387408269 rs1326754540 |
651 | I>M | No |
ClinGen TOPMed |
|
|
CA246339113 rs1004420781 |
651 | I>V | No |
ClinGen Ensembl |
|
|
rs772731224 CA246339107 |
653 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772731224 CA6895376 |
653 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV002252266 CA6895373 rs77116800 RCV000905118 |
654 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6895374 rs371242395 |
654 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768549526 CA387408205 |
655 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6895372 rs768549526 |
655 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1189273003 CA387408126 |
658 | A>V | No |
ClinGen gnomAD |
|
|
CA6895369 rs751601869 COSM937353 |
659 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751601869 CA6895370 |
659 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777760210 CA6895367 |
659 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749484112 CA6895366 |
660 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs749484112 CA6895365 |
660 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6895364 rs765495030 |
660 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387408096 rs765495030 |
660 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895363 rs527490263 |
661 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs754194446 CA6895362 |
662 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6895358 rs754391934 |
663 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895359 rs765971232 |
663 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6895356 rs771705907 |
664 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA246338943 rs775294384 |
667 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs775294384 CA6895351 |
667 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs771061083 CA6895350 |
668 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387407943 rs1216941128 |
669 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6895349 rs747246576 |
670 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA387407911 rs1566010939 |
671 | H>R | No |
ClinGen Ensembl |
|
|
CA6895348 rs376393173 |
671 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373315891 CA387407886 |
672 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373315891 CA6895346 |
672 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284655606 CA387407876 |
673 | R>G | No |
ClinGen gnomAD |
|
|
CA6895344 rs755464681 |
673 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865795640 CA387407859 |
674 | C>G | No |
ClinGen Ensembl |
|
|
rs865795640 CA246338883 |
674 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 674 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223757129 CA387407815 |
676 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387407823 rs376479500 |
676 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895342 rs376479500 |
676 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895341 rs755790390 |
677 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387407783 rs1272600012 |
678 | P>R | No |
ClinGen gnomAD |
|
|
rs78905764 CA6895340 |
680 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387407732 rs1259019651 |
681 | Q>R | No |
ClinGen TOPMed |
|
|
CA387407672 rs767176067 |
684 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6895339 rs767176067 |
684 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1399379785 CA387407658 |
685 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1399379785 CA387407661 |
685 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA246338834 rs915949460 |
686 | I>T | No |
ClinGen Ensembl |
|
|
CA387407641 rs1177367274 |
686 | I>V | No |
ClinGen gnomAD |
|
|
rs1186832542 CA387407624 |
687 | E>K | No |
ClinGen TOPMed |
|
|
rs1469501006 CA387407608 |
688 | A>T | No |
ClinGen gnomAD |
|
|
CA6895336 rs763948286 |
689 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387407586 rs763948286 |
689 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387407590 rs763948286 |
689 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769893376 CA6895333 |
690 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769893376 CA387407571 |
690 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895332 COSM144688 rs199617196 |
691 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763836655 CA6895329 |
693 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387407469 rs1275859358 |
696 | S>R | No |
ClinGen gnomAD |
|
|
rs983016578 CA246338790 |
699 | N>S | No |
ClinGen gnomAD |
|
|
rs749797672 CA6895325 |
700 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA387407374 rs1412035398 |
701 | L>F | No |
ClinGen gnomAD |
|
|
rs905709173 CA246338768 |
702 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6895322 rs750777480 |
703 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA387407309 rs1440539163 |
704 | P>R | No |
ClinGen gnomAD |
|
|
CA387407270 rs1309011784 |
706 | N>S | No |
ClinGen TOPMed |
|
|
CA6895320 rs756910711 |
709 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA387407182 rs1240334798 |
710 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 711 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367741360 CA6895319 |
712 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867149912 CA246338722 |
713 | G>D | No |
ClinGen Ensembl |
|
|
CA6895316 rs775472298 |
713 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764984991 CA6895314 |
715 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA246338719 rs951686329 |
716 | P>T | No |
ClinGen TOPMed |
|
|
rs1420841675 CA387407047 |
717 | K>* | No |
ClinGen TOPMed |
|
|
CA6895313 rs759361950 |
718 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6895312 rs375055766 |
718 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201453405 CA6895310 |
719 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768769425 CA6895308 |
719 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs201453405 CA246338711 |
719 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201453405 CA6895309 |
719 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368204052 CA6895307 |
720 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_031099 CA6895304 rs10781634 |
720 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs10781634 CA6895305 |
720 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1010551641 CA246338662 |
721 | G>E | No |
ClinGen Ensembl |
|
|
CA387406927 rs1306316199 |
724 | A>P | No |
ClinGen gnomAD |
|
|
CA6895301 rs781633125 |
724 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757033242 CA6895300 |
725 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246338646 rs1030597464 |
727 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1305241254 CA387406846 |
728 | P>L | No |
ClinGen TOPMed |
|
|
rs777195065 CA6895298 |
729 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs370985412 CA246338644 |
729 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895299 rs370985412 |
729 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895297 rs201957832 |
730 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1306555823 CA387406815 |
731 | D>Y | No |
ClinGen gnomAD |
|
|
CA246338636 rs1046239513 |
734 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387406764 rs1237493857 |
735 | E>D | No |
ClinGen TOPMed |
|
|
CA387406753 rs1293061092 |
736 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1293061092 CA387406754 |
736 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs568989665 CA6895295 |
736 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6895294 rs759414994 |
740 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766158600 CA387406689 |
741 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA246338598 rs947870303 |
742 | Q>R | No |
ClinGen TOPMed |
|
|
rs762082409 CA6895291 |
744 | I>R | No |
ClinGen ExAC TOPMed |
|
|
CA387406660 rs762082409 |
744 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs371204974 CA6895289 |
746 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775374422 CA6895287 |
746 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775374422 CA6895288 |
746 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246338551 rs929596288 |
747 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs941368788 CA246338545 |
748 | V>A | No |
ClinGen Ensembl |
|
|
rs746368812 CA6895285 |
748 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201843669 CA246338536 |
750 | K>R | No |
ClinGen Ensembl |
|
|
CA6895284 rs781726198 |
751 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1395829989 CA387406553 |
753 | D>E | No |
ClinGen TOPMed |
|
|
COSM1476354 rs376936921 CA6895283 |
753 | D>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200253935 CA6895282 |
754 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387406551 rs200253935 |
754 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387406523 rs1419298099 |
756 | T>A | No |
ClinGen gnomAD |
|
|
CA6895281 rs777516084 |
757 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387406493 rs1324337413 |
759 | K>E | No |
ClinGen TOPMed |
|
|
rs1269011637 CA387406481 |
760 | D>N | No |
ClinGen gnomAD |
|
|
CA6895280 rs757940974 |
761 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367285955 CA387406402 |
766 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6895277 rs754976405 |
768 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6895276 rs753763983 |
768 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387406373 rs1346187941 |
769 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387406368 rs1308821347 |
769 | A>V | No |
ClinGen TOPMed |
|
|
rs766212388 CA6895275 |
770 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895274 rs373826499 |
772 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs963399121 CA246338485 |
772 | R>K | No |
ClinGen TOPMed |
|
|
rs1365484452 CA387406337 |
772 | R>S | No |
ClinGen gnomAD |
|
|
rs542277356 CA246338482 |
773 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6895273 rs750134734 |
773 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387406284 rs1454065009 |
777 | P>A | No |
ClinGen gnomAD |
|
|
CA387406278 rs1187394555 |
777 | P>L | No |
ClinGen TOPMed |
|
|
rs775703008 CA6895269 |
780 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs186469877 CA387406250 |
780 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186469877 CA6895270 |
780 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6895268 rs200179300 |
783 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6895265 rs376530487 |
784 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 784 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387406179 rs1464676916 |
786 | G>C | No |
ClinGen gnomAD |
|
|
rs372987812 CA6895264 |
786 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771764666 CA6895263 |
788 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895261 COSM1188668 rs369591537 |
789 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1262583581 CA387406132 |
790 | T>I | No |
ClinGen gnomAD |
|
|
CA387406104 rs754464109 CA6895260 |
792 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs749265166 CA6895259 |
794 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1297546257 CA387406052 |
796 | A>D | No |
ClinGen gnomAD |
|
|
rs779987897 CA6895258 |
797 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA387406037 rs1363614756 |
798 | I>L | No |
ClinGen TOPMed |
|
|
rs376360110 CA6895256 |
799 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895255 rs767211770 |
801 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1264717467 CA387405993 |
801 | M>T | No |
ClinGen gnomAD |
|
|
CA246338441 rs572111545 |
803 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs565063145 CA6895253 |
803 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387405955 rs759717835 |
804 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA6895250 rs776806854 |
805 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1449419342 CA387405936 |
806 | S>N | No |
ClinGen gnomAD |
|
|
rs761024797 CA387405914 |
808 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895248 rs761024797 |
808 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246338425 rs1000297366 |
809 | R>G | No |
ClinGen TOPMed |
|
|
rs773697339 CA6895247 |
810 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6895244 rs773963548 |
811 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895245 rs773963548 |
811 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895243 rs768247207 |
812 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs12809719 CA246338400 |
814 | L>I | No |
ClinGen Ensembl |
|
|
rs748808201 CA6895242 |
814 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1476191091 CA387405833 |
815 | E>G | No |
ClinGen TOPMed |
|
|
CA6895240 rs373384820 |
815 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373384820 CA387405836 |
815 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745775918 CA6895239 |
818 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200454083 CA6895237 |
820 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528690169 CA6895236 |
820 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298303278 CA387405751 |
822 | R>M | No |
ClinGen gnomAD |
|
|
rs766368315 CA6895232 |
823 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445546187 CA387405713 |
825 | F>L | No |
ClinGen gnomAD |
|
|
rs1368281063 CA387405710 |
826 | L>V | No |
ClinGen gnomAD |
|
|
CA6895231 rs371526496 |
827 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895230 rs369320391 |
828 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777772436 CA6895194 |
829 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895192 rs753680111 |
832 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387404584 rs1295716425 |
834 | L>F | No |
ClinGen gnomAD |
|
|
CA246337309 rs916223187 |
835 | D>E | No |
ClinGen TOPMed |
|
|
CA387404574 rs756312417 |
835 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895189 rs756312417 |
835 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895188 rs750471567 |
837 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781326239 CA6895187 |
838 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA246337304 rs76100696 |
839 | L>V | No |
ClinGen Ensembl |
|
|
CA6895185 rs370540397 |
841 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387404484 rs1277227641 |
843 | E>Q | No |
ClinGen TOPMed |
|
|
rs758789657 CA6895183 |
844 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA6895184 rs376170698 |
844 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753054045 CA6895182 |
845 | A>S | No |
ClinGen ExAC |
|
|
CA387404439 rs185739493 |
847 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185739493 CA6895180 |
847 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373274502 CA6895178 |
848 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6895176 rs370061142 |
850 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 852 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6895175 rs772096364 |
853 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387404353 rs774140011 |
854 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6895173 rs774140011 |
854 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6895171 rs376978910 |
855 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895170 rs781177662 |
856 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6895169 rs757291921 |
857 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA608271408 rs1566007695 |
858 | W>* | No |
ClinGen Ensembl |
|
|
CA6895168 rs747047823 |
859 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs372997490 CA6895167 |
859 | K>M | No |
ClinGen ESP ExAC |
|
|
rs181106992 CA387404286 |
860 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6895166 rs201127081 |
860 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6895162 rs753510158 |
865 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387404237 rs1216812449 |
865 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200148522 CA6895163 |
865 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200148522 CA6895164 |
865 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1326298007 CA387404214 |
867 | P>R | No |
ClinGen TOPMed |
|
|
rs1013856272 CA246337214 |
867 | P>T | No |
ClinGen gnomAD |
|
|
CA6895160 rs200743167 |
868 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200743167 CA6895159 |
868 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387404182 rs1447597495 |
870 | R>K | No |
ClinGen gnomAD |
|
|
rs1421476459 CA387404163 |
871 | Q>H | No |
ClinGen gnomAD |
|
|
rs1192860763 CA387404157 |
872 | S>C | No |
ClinGen gnomAD |
|
|
rs867726228 CA387404036 |
874 | P>A | No |
ClinGen gnomAD |
|
|
CA387404031 rs1178577410 |
874 | P>L | No |
ClinGen gnomAD |
|
|
rs867726228 CA246336703 |
874 | P>S | No |
ClinGen gnomAD |
|
|
CA387404027 rs1250449866 |
875 | S>G | No |
ClinGen gnomAD |
|
|
rs1180616548 CA387404015 |
876 | P>S | No |
ClinGen gnomAD |
|
|
CA6895135 rs751482426 |
877 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs770291492 CA246336699 |
877 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751482426 CA6895134 |
877 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA246336679 rs1028586964 |
878 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1349896492 CA387403968 |
880 | G>E | No |
ClinGen gnomAD |
|
|
rs375289089 CA6895132 |
881 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439597689 CA387403958 |
881 | R>T | No |
ClinGen TOPMed |
|
|
CA246336666 rs915413486 |
883 | K>N | No |
ClinGen TOPMed |
|
|
CA6895131 rs775205266 |
883 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593128688 CA387403892 |
887 | P>L | No |
ClinGen Ensembl |
|
|
CA387403869 rs1179034603 |
888 | D>E | No |
ClinGen TOPMed |
|
|
CA387403879 rs1347931899 |
888 | D>G | No |
ClinGen gnomAD |
|
|
CA246336663 rs550673728 |
888 | D>H | No |
ClinGen gnomAD |
|
|
CA387403886 rs550673728 |
888 | D>N | No |
ClinGen gnomAD |
|
|
rs550673728 CA387403883 |
888 | D>Y | No |
ClinGen gnomAD |
|
|
rs77646743 CA6895130 |
891 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6895129 rs760884782 |
892 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387403816 rs1435411980 |
893 | H>R | No |
ClinGen gnomAD |
|
|
rs773340496 CA6895128 |
893 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs375915843 CA6895127 |
894 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487688161 CA387403789 |
895 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs922853733 CA246336655 |
896 | S>R | No |
ClinGen TOPMed |
|
|
rs201716997 CA6895126 COSM937351 |
897 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6895124 rs768996659 |
899 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA387403717 rs1266314821 |
901 | S>N | No |
ClinGen gnomAD |
|
|
rs749678773 CA6895123 |
901 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371688595 CA6895122 |
902 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543387746 CA6895121 |
906 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895120 rs750076601 |
907 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387403640 rs200904328 |
908 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895118 rs200904328 |
908 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387529337 CA387403596 |
912 | L>P | No |
ClinGen gnomAD |
|
|
CA387403592 rs1185209353 |
913 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387403570 rs1194179492 |
914 | S>R | No |
ClinGen TOPMed |
|
|
rs1056547024 CA387403563 |
915 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1056547024 CA246336621 |
915 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1377730939 CA387403554 |
916 | G>E | No |
ClinGen gnomAD |
|
|
rs572404917 CA6895116 |
917 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762729017 CA6895115 |
917 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392382366 CA387403540 |
918 | Y>H | No |
ClinGen gnomAD |
|
|
rs926626315 CA246336618 |
918 | Y>S | No |
ClinGen Ensembl |
|
|
CA246336615 rs868627625 |
919 | S>G | No |
ClinGen gnomAD |
|
|
rs1246359555 CA387403520 |
919 | S>N | No |
ClinGen gnomAD |
|
|
rs1202403933 CA387403511 |
920 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200398705 CA6895113 |
921 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387403492 rs760937847 |
922 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387403486 rs1463140977 |
922 | H>R | No |
ClinGen TOPMed |
|
|
CA6895112 rs760937847 |
922 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6895111 rs773393264 |
923 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs920838624 CA246336578 |
923 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387403476 rs920838624 |
923 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs761978780 CA6895109 |
924 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1397442459 CA387403463 |
924 | S>T | No |
ClinGen gnomAD |
|
|
rs774240785 CA6895108 |
927 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6895107 rs542266393 |
927 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387403424 rs542266393 |
927 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387403429 rs774240785 |
927 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464980562 CA387403415 |
928 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1464980562 CA387403411 |
928 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387403390 rs1373013497 |
929 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387403392 rs1373013497 |
929 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1226382051 CA387403358 |
930 | A>P | No |
ClinGen TOPMed |
|
|
rs749810791 CA6895106 |
930 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780612219 COSM937350 CA6895105 |
931 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770248855 CA6895104 |
931 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387403306 rs1255549894 |
933 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 934 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206097494 CA387403262 |
935 | L>F | No |
ClinGen TOPMed |
|
|
rs576559658 CA6895102 |
935 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484084863 CA387403257 |
936 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA246336489 rs999809276 |
936 | A>V | No |
ClinGen gnomAD |
|
|
CA6895100 rs114394359 RCV000932671 |
937 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777142077 COSM1605847 CA246336471 |
938 | L>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA246336465 rs866515580 |
939 | L>Y | No |
ClinGen Ensembl |
No associated diseases with Q86XL3
7 regional properties for Q86XL3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Translational (tr)-type GTP-binding domain | 10 - 207 | IPR000795 |
| domain | Translation elongation factor EFTu/EF1A, C-terminal | 301 - 395 | IPR004160 |
| domain | Translation elongation factor EFTu-like, domain 2 | 228 - 296 | IPR004161 |
| domain | Small GTP-binding protein domain | 13 - 149 | IPR005225 |
| conserved_site | Tr-type G domain, conserved site | 51 - 66 | IPR031157 |
| domain | Elongation factor Tu, domain 2 | 214 - 300 | IPR033720 |
| domain | Elongation factor Tu (EF-Tu), GTP-binding domain | 11 - 206 | IPR041709 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein phosphatase 2A binding | Binding to protein phosphatase 2A. |
| protein phosphatase regulator activity | Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| mitotic nuclear membrane reassembly | The mitotic cell cycle process involving ESCRTIII that results in reformation of the nuclear envelope after mitotic nuclear division. In organisms undergoing closed mitosis this involves resealing or 'repair' of the nuclear envelope in the nuclear bridge. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of phosphorylation | Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. |
| positive regulation of protein dephosphorylation | Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein. |
| regulation of catalytic activity | Any process that modulates the activity of an enzyme. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLWPRLAAAE | WAALAWELLG | ASVLLIAVRW | LVRRLGPRPG | GLGRSGTPVP | PPSAAAAPAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GEMTMDALLA | RLKLLNPDDL | REEIVKAGLK | CGPITSTTRF | IFEKKLAQAL | LEQGGRLSSF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YHHEAGVTAL | SQDPQRILKP | AEGNPTDQAG | FSEDRDFGYS | VGLNPPEEEA | VTSKTCSVPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SDTDTYRAGA | TASKEPPLYY | GVCPVYEDVP | ARNERIYVYE | NKKEALQAVK | MIKGSRFKAF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| STREDAEKFA | RGICDYFPSP | SKTSLPLSPV | KTAPLFSNDR | LKDGLCLSES | ETVNKERANS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YKNPRTQDLT | AKLRKAVEKG | EEDTFSDLIW | SNPRYLIGSG | DNPTIVQEGC | RYNVMHVAAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ENQASICQLT | LDVLENPDFM | RLMYPDDDEA | MLQKRIRYVV | DLYLNTPDKM | GYDTPLHFAC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KFGNADVVNV | LSSHHLIVKN | SRNKYDKTPE | DVICERSKNK | SVELKERIRE | YLKGHYYVPL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRAEETSSPV | IGELWSPDQT | AEASHVSRYG | GSPRDPVLTL | RAFAGPLSPA | KAEDFRKLWK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TPPREKAGFL | HHVKKSDPER | GFERVGRELA | HELGYPWVEY | WEFLGCFVDL | SSQEGLQRLE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EYLTQQEIGK | KAQQETGERE | ASCRDKATTS | GSNSISVRAF | LDEDDMSLEE | IKNRQNAARN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NSPPTVGAFG | HTRCSAFPLE | QEADLIEAAE | PGGPHSSRNG | LCHPLNHSRT | LAGKRPKAPR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GEEAHLPPVS | DLTVEFDKLN | LQNIGRSVSK | TPDESTKTKD | QILTSRINAV | ERDLLEPSPA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DQLGNGHRRT | ESEMSARIAK | MSLSPSSPRH | EDQLEVTREP | ARRLFLFGEE | PSKLDQDVLA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ALECADVDPH | QFPAVHRWKS | AVLCYSPSDR | QSWPSPAVKG | RFKSQLPDLS | GPHSYSPGRN |
| 910 | 920 | 930 | |||
| SVAGSNPAKP | GLGSPGRYSP | VHGSQLRRMA | RLAELAAL |