Q5FWF4
PR
Gene name |
ZRANB3 |
Protein name |
DNA annealing helicase and endonuclease ZRANB3 |
Names |
Annealing helicase 2, AH2, Zinc finger Ran-binding domain-containing protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84083 |
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
5 structures for Q5FWF4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5MKW | X-ray | 200 A | A/B | 948-1067 | PDB |
| 5MLO | X-ray | 196 A | B/D/F | 515-529 | PDB |
| 5MLW | X-ray | 245 A | B/D/F | 1069-1079 | PDB |
| 5YD8 | X-ray | 230 A | U/V/W | 1069-1079 | PDB |
| AF-Q5FWF4-F1 | Predicted | AlphaFoldDB |
913 variants for Q5FWF4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561865479 CA1886141 |
3 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1465021587 CA348652731 |
5 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1886137 rs201054972 |
12 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1886138 rs201054972 |
12 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1886136 rs768858023 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348652673 rs1322085499 |
14 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | I>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 16 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921167319 CA348652651 |
17 | C>F | No |
ClinGen TOPMed |
|
|
CA1886134 rs201616507 |
17 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA56823926 rs921167319 |
17 | C>Y | No |
ClinGen TOPMed |
|
|
COSM1613408 CA1886133 rs369170850 |
19 | T>A | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs962574441 CA56823925 |
20 | N>S | No |
ClinGen TOPMed |
|
|
rs778554178 CA1886131 |
22 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757233401 CA1886130 |
23 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348652600 rs1409557104 |
25 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs564485993 CA1886129 |
26 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348652592 rs1559042732 |
27 | D>N | No |
ClinGen Ensembl |
|
|
CA348652578 rs1195668381 |
28 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427058307 CA348652556 |
32 | R>G | No |
ClinGen gnomAD |
|
|
rs964033306 CA56823924 |
33 | L>P | No |
ClinGen Ensembl |
|
|
CA348652479 rs1459869537 |
38 | L>R | No |
ClinGen TOPMed |
|
|
CA1886125 rs752457551 |
39 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766652329 CA1886124 |
41 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1426740073 CA348652444 |
42 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175105975 CA348652424 |
43 | D>G | No |
ClinGen gnomAD |
|
|
rs548015007 CA56823923 |
43 | D>H | No |
ClinGen Ensembl |
|
|
CA1886123 rs763145891 |
44 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1886122 rs750512708 |
45 | I>V | No |
ClinGen ExAC |
|
|
rs765160537 CA1886121 |
46 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM569904 rs371776103 CA1886120 |
48 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1886119 rs776958301 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769188249 CA1886118 |
49 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348652334 rs1314007242 |
50 | K>E | No |
ClinGen gnomAD |
|
|
CA56823920 rs1026250927 |
52 | N>D | No |
ClinGen TOPMed |
|
|
CA348652311 rs1305015989 |
53 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348649339 rs1323805833 |
54 | R>S | No |
ClinGen gnomAD |
|
|
rs762607675 CA1886063 |
55 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs772599196 CA1886062 |
55 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1298009330 CA348649330 |
56 | M>V | No |
ClinGen gnomAD |
|
|
CA1886061 rs748102774 |
57 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748102774 CA1886060 |
57 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs867918645 CA56801061 |
58 | A>V | No |
ClinGen TOPMed |
|
|
rs1170835038 CA348649285 |
61 | M>L | No |
ClinGen TOPMed |
|
|
rs1349237686 CA348649278 |
62 | G>S | No |
ClinGen TOPMed |
|
|
CA348649258 rs1456379950 |
65 | K>R | No |
ClinGen TOPMed |
|
|
rs181120539 CA1886047 |
67 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA56780816 rs548937041 |
68 | Q>E | No |
ClinGen Ensembl |
|
|
rs377159609 CA1886045 |
70 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348649222 rs1558938246 |
71 | G>R | No |
ClinGen Ensembl |
|
|
rs966741119 CA56780812 |
72 | I>V | No |
ClinGen TOPMed |
|
|
rs969834624 CA56780807 |
74 | Y>H | No |
ClinGen Ensembl |
|
|
rs969834624 CA56780810 |
74 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 74 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348649197 rs1441810921 |
75 | F>L | No |
ClinGen gnomAD |
|
|
CA348649186 rs1279288144 |
76 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 79 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1886042 rs764844352 |
79 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1886043 rs772868145 |
79 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1886041 rs761356826 |
83 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363231435 CA348649129 |
84 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348649131 rs1470256267 |
84 | I>T | No |
ClinGen Ensembl |
|
|
rs572388412 CA1886040 |
84 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768641936 CA1886039 |
85 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769479192 CA348649108 |
88 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA56780803 rs769479192 |
88 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1159462581 CA348649090 |
89 | S>F | No |
ClinGen gnomAD |
|
|
CA1886036 rs771862923 |
89 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1573962896 CA348649063 |
91 | R>S | No |
ClinGen Ensembl |
|
|
CA348649044 rs1441360293 |
92 | Y>* | No |
ClinGen gnomAD |
|
|
CA56780799 rs867287572 |
92 | Y>H | No |
ClinGen Ensembl |
|
|
rs1207499446 CA348649007 |
94 | W>C | No |
ClinGen TOPMed |
|
|
rs778190422 CA1886035 |
95 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778190422 CA1886034 |
95 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA56780795 rs955624524 |
97 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA348648944 rs1161401687 |
98 | I>N | No |
ClinGen gnomAD |
|
|
CA1886033 rs770136150 |
99 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770136150 CA56780793 |
99 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752062772 CA348648831 |
104 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755544895 CA1886030 |
104 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1031532991 CA56780785 |
109 | E>D | No |
ClinGen Ensembl |
|
|
CA56780787 rs963234890 |
109 | E>V | No |
ClinGen TOPMed |
|
|
rs780302177 CA1886028 |
110 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs201847967 CA1886027 |
111 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374344598 CA1886025 |
115 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1886024 rs761446217 |
117 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1347190595 CA348648610 |
118 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 119 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225953329 CA348648593 |
119 | V>I | No |
ClinGen gnomAD |
|
|
CA1886023 rs753361928 |
120 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs997970994 CA56780778 |
120 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1478175987 CA348648438 |
121 | R>G | No |
ClinGen gnomAD |
|
|
CA1885999 rs767548446 |
121 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA348648431 rs767548446 |
121 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs61744510 CA1885997 |
123 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885998 rs61744510 |
123 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1385382795 CA348648387 |
124 | T>A | No |
ClinGen TOPMed |
|
|
CA348648369 rs1333049737 |
125 | S>G | No |
ClinGen gnomAD |
|
|
CA348648363 rs1332128674 |
125 | S>N | No |
ClinGen TOPMed |
|
|
CA1885995 rs762145369 |
126 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348648335 rs1256946420 |
127 | V>M | No |
ClinGen TOPMed |
|
|
rs1315520313 CA348648307 |
128 | T>K | No |
ClinGen TOPMed |
|
|
rs889926276 CA56780219 |
129 | V>F | No |
ClinGen Ensembl |
|
|
rs61744517 CA1885994 |
130 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219916720 CA348648258 |
132 | Y>C | No |
ClinGen gnomAD |
|
|
CA916657441 rs1558936003 |
132 | Y>R | No |
ClinGen Ensembl |
|
|
CA56780214 rs372077058 |
135 | L>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 137 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995706952 CA56780212 |
137 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs564734782 CA1885992 |
139 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368359534 CA1885990 |
140 | K>Q | No |
ClinGen ESP ExAC |
|
|
CA348648109 rs1467164657 |
141 | T>I | No |
ClinGen gnomAD |
|
|
CA56780205 rs757569708 |
142 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885987 rs757569708 |
142 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348648092 rs1478809424 |
143 | I>L | No |
ClinGen TOPMed |
|
|
CA1885985 rs777524112 |
143 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372430327 CA1885984 |
144 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348648064 rs1439469766 COSM4136171 |
145 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs549794998 CA1885983 |
145 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576027653 CA1885981 |
146 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748878321 CA56780195 |
147 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748878321 CA56780196 |
147 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1255941009 CA348648038 |
149 | Q>R | No |
ClinGen gnomAD |
|
|
CA348648015 rs1210831447 |
152 | K>R | No |
ClinGen gnomAD |
|
|
CA348648006 rs1314027274 |
153 | V>A | No |
ClinGen gnomAD |
|
|
CA56780193 rs1027328499 |
154 | V>D | No |
ClinGen TOPMed |
|
|
rs1573957219 CA348647999 |
155 | I>L | No |
ClinGen Ensembl |
|
|
CA1885980 rs751489554 |
155 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1885979 rs374682433 |
160 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573957196 CA348647961 |
160 | H>R | No |
ClinGen Ensembl |
|
|
rs183525970 CA1885978 |
161 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885977 rs773133866 |
162 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885976 rs544233017 |
164 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1885973 COSM329648 rs557903085 |
169 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348647900 COSM1006821 rs746398124 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746398124 CA1885972 |
169 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1013198719 CA56780187 |
172 | I>F | No |
ClinGen gnomAD |
|
|
rs1013198719 CA348647883 |
172 | I>V | No |
ClinGen gnomAD |
|
|
CA1885970 rs367613416 |
174 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA56780186 rs894702238 |
175 | P>Q | No |
ClinGen Ensembl |
|
|
rs1488676742 CA348647863 |
175 | P>S | No |
ClinGen TOPMed |
|
|
rs1422444587 CA348647848 |
177 | V>G | No |
ClinGen gnomAD |
|
|
CA1885968 rs573619112 |
178 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375605767 CA348647838 |
179 | K>E | No |
ClinGen gnomAD |
|
|
rs1215821240 CA348647832 |
180 | A>T | No |
ClinGen TOPMed |
|
|
CA348647826 rs1484269352 |
181 | R>G | No |
ClinGen gnomAD |
|
|
CA348647821 rs747714765 |
181 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs780775027 CA56780182 |
182 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780775027 CA1885965 |
182 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754580098 CA1885964 |
182 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885963 rs555044883 |
183 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348647799 rs1573956958 |
186 | L>F | No |
ClinGen Ensembl |
|
|
CA1885960 rs750248857 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1885959 rs764876251 |
195 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs867776309 CA56779343 |
198 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348647579 rs1390426055 |
200 | M>I | No |
ClinGen gnomAD |
|
|
rs758417108 CA1885943 |
200 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA348647545 rs1459789460 |
205 | L>P | No |
ClinGen gnomAD |
|
|
CA348647548 rs1294445714 |
205 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348647542 rs1461625955 |
206 | F>L | No |
ClinGen TOPMed |
|
|
CA348647534 rs1573948745 |
207 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 209 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885940 rs757051675 |
210 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1458779875 CA348647502 |
211 | G>A | No |
ClinGen TOPMed |
|
|
CA1885939 rs199835442 CA348647495 |
212 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA56779335 rs1024535889 |
213 | W>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 213 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348647478 rs1268342214 |
215 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759742107 CA1885937 |
216 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1469652777 CA348647464 |
217 | A>T | No |
ClinGen gnomAD |
|
|
rs1558932388 CA348647450 |
219 | R>G | No |
ClinGen Ensembl |
|
|
rs1558932382 CA348647447 |
219 | R>I | No |
ClinGen Ensembl |
|
|
rs1197995614 CA348647445 |
219 | R>S | No |
ClinGen gnomAD |
|
|
rs376550690 CA56779330 |
220 | Y>* | No |
ClinGen ESP TOPMed |
|
|
rs1252596520 CA348647418 |
223 | A>E | No |
ClinGen gnomAD |
|
|
CA348647420 rs1317968813 |
223 | A>T | No |
ClinGen gnomAD |
|
|
rs1227957304 CA348647411 |
224 | H>R | No |
ClinGen TOPMed |
|
|
CA56773678 rs867541994 |
227 | Y>C | No |
ClinGen Ensembl |
|
|
rs757215106 CA1885920 |
229 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757215106 CA56773674 |
229 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757215106 CA348649070 |
229 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885919 rs753636569 |
232 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1332771313 CA348649010 |
234 | W>* | No |
ClinGen gnomAD |
|
|
CA348648996 rs1395518538 |
235 | D>G | No |
ClinGen gnomAD |
|
|
rs1174510764 CA348648962 |
238 | G>E | No |
ClinGen gnomAD |
|
|
rs531204874 CA1885915 |
239 | A>E | No |
ClinGen 1000Genomes |
|
|
rs755221915 CA1885917 |
239 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479510249 CA348648947 |
240 | S>P | No |
ClinGen TOPMed |
|
|
CA348648933 rs1157775544 |
241 | N>S | No |
ClinGen gnomAD |
|
|
rs950983004 CA56773668 |
242 | L>I | No |
ClinGen Ensembl |
|
|
rs1012726964 CA56773666 |
243 | N>S | No |
ClinGen TOPMed |
|
|
CA348648875 rs1440094421 |
246 | H>R | No |
ClinGen gnomAD |
|
|
CA348648859 rs1441325318 |
247 | Q>H | No |
ClinGen gnomAD |
|
|
CA348648864 rs1185417399 |
247 | Q>R | No |
ClinGen gnomAD |
|
|
CA1885914 rs769045535 |
248 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766564491 CA1885913 |
251 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765718472 CA1885910 |
252 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs750507380 CA1885911 |
252 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1885909 rs762319696 |
254 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs777142674 CA348648777 |
254 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA348648783 rs1461663365 |
254 | I>N | No |
ClinGen TOPMed |
|
|
CA56773660 rs57517364 |
256 | R>K | No |
ClinGen Ensembl |
|
|
rs1351694606 CA348648756 |
256 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760429991 CA1885906 |
257 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348648734 rs1226379708 |
258 | K>N | No |
ClinGen gnomAD |
|
|
CA348648730 rs1328329865 |
259 | T>S | No |
ClinGen gnomAD |
|
|
rs1398254139 CA348648696 |
262 | L>S | No |
ClinGen gnomAD |
|
|
CA1885903 rs773900077 |
267 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773900077 CA1885902 |
267 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348648638 rs1409966168 |
268 | K>E | No |
ClinGen gnomAD |
|
|
rs1293886280 CA348648587 |
272 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1885900 rs372494631 |
272 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885899 rs777564442 |
274 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA348648560 rs1189393806 |
275 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885897 rs542339523 |
277 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1885896 rs758629165 |
278 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885895 rs758629165 |
278 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885893 rs765291905 |
281 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748773547 CA1885881 |
284 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274503071 CA348648474 |
286 | N>K | No |
ClinGen gnomAD |
|
|
CA348648468 rs1356624087 |
287 | T>N | No |
ClinGen TOPMed |
|
|
CA348648469 rs1356624087 |
287 | T>S | No |
ClinGen TOPMed |
|
|
CA1885880 rs773174164 |
288 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs369979682 CA1885879 |
292 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746409776 CA56773297 |
296 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1170472009 CA348648351 |
297 | R>T | No |
ClinGen gnomAD |
|
|
rs1260904073 CA348648305 |
301 | S>L | No |
ClinGen TOPMed |
|
|
rs746066037 CA1885875 |
302 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885876 rs746066037 |
302 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348648295 rs1198484745 |
303 | A>T | No |
ClinGen TOPMed |
|
|
CA1885874 rs183638659 |
304 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376672230 CA1885873 |
307 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1885871 rs778490785 |
308 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs756677406 CA1885870 |
310 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1457681570 CA348648199 |
311 | I>T | No |
ClinGen gnomAD |
|
|
rs1239346657 CA348648188 |
312 | T>I | No |
ClinGen gnomAD |
|
|
rs1239346657 CA348648189 |
312 | T>S | No |
ClinGen gnomAD |
|
|
rs542834452 CA1885869 COSM1006820 |
313 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767857886 CA56773289 |
313 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767857886 CA1885868 |
313 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1278165102 CA348648170 |
314 | M>I | No |
ClinGen gnomAD |
|
|
rs1249725051 CA348648176 |
314 | M>L | No |
ClinGen TOPMed |
|
|
rs1249725051 CA348648179 |
314 | M>V | No |
ClinGen TOPMed |
|
|
rs1220080364 CA348648151 |
316 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA348648147 rs1182831564 |
316 | K>T | No |
ClinGen TOPMed |
|
|
CA348648107 rs759131824 |
320 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885867 rs759131824 |
320 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751273653 CA1885866 |
321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753216824 CA1885849 |
323 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753216824 CA348647240 |
323 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161870371 CA348647236 |
323 | A>V | No |
ClinGen gnomAD |
|
|
rs755409269 CA1885847 |
324 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885846 rs751865909 |
326 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201037135 CA1885845 |
327 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3390941 CA1885844 rs762530793 |
327 | K>N | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA348647216 rs1558880275 |
327 | K>R | No |
ClinGen Ensembl |
|
|
rs749936629 CA1885843 |
328 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA348647202 rs1175331662 |
329 | Y>C | No |
ClinGen TOPMed |
|
|
CA348647197 rs1261134797 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs1558880225 CA348647187 |
331 | K>R | No |
ClinGen Ensembl |
|
|
CA1885841 rs761763706 |
332 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs533959448 CA1885840 |
333 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553465306 CA348647154 |
335 | Q>H | No |
ClinGen Ensembl |
|
|
rs768450897 CA1885839 |
336 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348647139 rs1399068913 |
337 | D>E | No |
ClinGen gnomAD |
|
|
rs1275903842 CA348647142 |
337 | D>G | No |
ClinGen gnomAD |
|
|
CA1885838 rs61733463 |
338 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771293044 CA1885836 |
340 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1016344597 COSM1006819 CA56767731 |
340 | K>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1885835 rs749456100 |
341 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1166733906 CA348647113 |
342 | L>V | No |
ClinGen TOPMed |
|
|
rs778032715 CA1885834 |
343 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348647108 rs1398758617 |
343 | V>L | No |
ClinGen TOPMed |
|
| rs750363119 | 344 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348647104 rs1324635860 |
344 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 345 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429289454 CA348647090 |
346 | H>Y | No |
ClinGen gnomAD |
|
|
CA348647075 rs1304712761 |
347 | H>Q | No |
ClinGen TOPMed |
|
|
CA348647078 rs1573810873 |
347 | H>R | No |
ClinGen Ensembl |
|
|
CA1885830 rs748144352 |
349 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs781755900 CA1885829 |
349 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249061157 CA348647054 |
350 | M>I | No |
ClinGen TOPMed |
|
|
CA348647058 rs1227228251 |
350 | M>T | No |
ClinGen TOPMed |
|
|
rs367730497 CA1885828 |
350 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340900296 CA348647048 |
351 | L>R | No |
ClinGen TOPMed |
|
|
rs1199345630 CA348647046 |
352 | Q>* | No |
ClinGen Ensembl |
|
|
rs780214016 CA1885826 |
353 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1266555586 CA348647032 |
354 | C>R | No |
ClinGen TOPMed |
|
|
rs1226103325 CA348647013 |
356 | E>D | No |
ClinGen gnomAD |
|
|
rs1255552045 CA348647019 |
356 | E>K | No |
ClinGen gnomAD |
|
|
rs1367427819 CA348646993 |
360 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1885806 rs151301223 |
363 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771804305 CA1885804 |
364 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771804305 CA1885805 |
364 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753401781 CA1885803 |
364 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs771804305 CA56767346 |
364 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987293016 CA56767345 |
365 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1455434472 CA348646951 |
365 | Y>H | No |
ClinGen gnomAD |
|
|
CA348646944 rs1378392527 |
366 | I>V | No |
ClinGen gnomAD |
|
|
CA348646927 rs1242078294 |
368 | I>T | No |
ClinGen TOPMed |
|
|
CA348646930 rs1181083835 |
368 | I>V | No |
ClinGen gnomAD |
|
|
rs1437876464 CA348646911 |
370 | G>V | No |
ClinGen gnomAD |
|
|
CA1885802 rs540292724 |
371 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs901639958 CA56767344 |
373 | S>* | No |
ClinGen Ensembl |
|
|
rs955461666 CA56767343 |
374 | S>T | No |
ClinGen TOPMed |
|
|
rs747816082 CA56767342 |
375 | S>T | No |
ClinGen gnomAD |
|
|
CA348646861 rs1553464638 |
378 | I>M | No |
ClinGen Ensembl |
|
|
rs752530242 CA1885799 |
379 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767529572 CA1885798 |
380 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1156823269 CA348646847 |
381 | V>F | No |
ClinGen TOPMed |
|
|
rs1558876962 CA348646836 |
382 | N>K | No |
ClinGen Ensembl |
|
|
CA1885797 rs573158700 |
383 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1885796 rs774274672 |
383 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 384 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765569164 CA1885794 |
384 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348646798 rs1310620708 |
388 | P>S | No |
ClinGen gnomAD |
|
|
CA348646787 rs1294926078 |
389 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1376234590 CA348646780 |
390 | T>S | No |
ClinGen gnomAD |
|
|
rs1436352558 CA348646776 |
391 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1885792 rs761870751 |
391 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348646773 rs768567355 |
392 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768567355 CA1885790 |
392 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747087140 CA348646767 |
393 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1885789 rs747087140 |
393 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885788 rs557852702 |
394 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348646762 rs1184694495 |
394 | I>V | No |
ClinGen gnomAD |
|
|
rs772564253 CA1885787 |
395 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 395 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943258569 CA348646744 |
397 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA56767340 rs962740275 |
397 | I>T | No |
ClinGen TOPMed |
|
|
rs943258569 CA56767341 |
397 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348646724 rs1487492555 |
400 | A>S | No |
ClinGen TOPMed gnomAD |
|
| rs1336880793 | 402 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885785 rs779190811 |
402 | Q>R | No |
ClinGen ExAC |
|
|
CA348646694 rs1233327770 |
403 | G>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 404 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434929465 CA348646657 |
408 | A>G | No |
ClinGen TOPMed |
|
|
CA1885762 rs200901805 |
411 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1885759 rs747670907 |
412 | V>F | No |
ClinGen ExAC TOPMed |
|
|
CA1885758 rs377257960 |
413 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996407890 CA56767120 |
414 | F>L | No |
ClinGen Ensembl |
|
|
CA1885757 rs754997739 |
417 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA56767118 rs879154040 |
417 | L>S | No |
ClinGen Ensembl |
|
|
CA348646595 rs1392912522 |
418 | Y>S | No |
ClinGen gnomAD |
|
|
rs1292524112 CA348646585 |
419 | W>* | No |
ClinGen TOPMed |
|
|
CA1885755 rs780017491 |
419 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA348646566 rs1387968844 |
422 | G>E | No |
ClinGen TOPMed |
|
|
rs758165641 CA1885754 |
422 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1885752 rs372859678 |
423 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750230244 CA1885753 |
423 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348646552 rs1206738009 |
424 | I>R | No |
ClinGen gnomAD |
|
|
CA348646541 rs1440865791 |
426 | Q>E | No |
ClinGen gnomAD |
|
|
CA1885750 rs752778672 |
428 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs940345294 CA56767115 |
428 | E>K | No |
ClinGen Ensembl |
|
|
rs1305500636 CA348646519 |
429 | D>G | No |
ClinGen gnomAD |
|
|
CA1885749 rs138094198 |
429 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348646521 rs138094198 |
429 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM475932 rs766258138 CA56767114 |
430 | R>* | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1885748 rs146966998 |
430 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348646507 rs1226473089 |
431 | A>V | No |
ClinGen Ensembl |
|
|
rs1489569875 CA348646501 |
432 | H>P | No |
ClinGen TOPMed |
|
|
CA348646495 rs774890702 |
433 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA1885747 rs774890702 |
433 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1885746 rs541421787 |
434 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541421787 CA1885745 |
434 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348646477 rs1178585109 |
436 | Q>H | No |
ClinGen gnomAD |
|
|
CA1885743 rs760589246 |
436 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1885744 rs760589246 |
436 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1885742 rs747758302 |
438 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412528478 CA348646454 |
440 | V>M | No |
ClinGen gnomAD |
|
|
CA348646442 rs1247476144 |
441 | N>K | No |
ClinGen TOPMed |
|
|
CA56767113 rs574479267 |
441 | N>S | No |
ClinGen 1000Genomes |
|
|
rs1447805609 CA348646440 |
442 | I>V | No |
ClinGen TOPMed |
|
|
rs776303437 CA1885741 |
443 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558874807 CA348646430 |
443 | H>L | No |
ClinGen Ensembl |
|
|
CA56767112 rs370567878 |
444 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA56767111 rs1022088802 |
445 | L>R | No |
ClinGen TOPMed |
|
|
rs768329407 CA1885740 |
445 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552765988 CA1885739 |
446 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348646406 rs1400583334 |
447 | A>E | No |
ClinGen gnomAD |
|
|
rs1459104804 CA348646403 |
448 | N>D | No |
ClinGen TOPMed |
|
|
CA348646400 rs527503710 |
448 | N>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1727417 CA1885738 rs527503710 |
448 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA348646388 rs1180803314 |
450 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1474302740 CA348646367 |
453 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348646369 rs1474302740 |
453 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348646364 rs1207659237 |
454 | L>F | No |
ClinGen gnomAD |
|
|
CA348646357 rs758344062 |
455 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758344062 CA1885737 |
455 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348646342 COSM1738750 rs1553464171 |
457 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA348646335 rs1558874687 |
458 | M>L | No |
ClinGen Ensembl |
|
|
rs745663718 CA1885736 |
459 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA1885735 rs778702820 |
461 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs534699623 CA1885733 |
461 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534699623 CA1885734 |
461 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs778599939 CA348646286 |
464 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778599939 CA1885718 |
464 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227852299 CA348646281 |
464 | Q>H | No |
ClinGen gnomAD |
|
|
rs1380050061 CA348646268 |
467 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1293009170 CA348646259 |
468 | S>N | No |
ClinGen gnomAD |
|
|
CA348646233 rs1291126291 |
472 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs942358873 CA56766789 |
472 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755133674 CA1885714 |
473 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1326584676 CA348646208 |
476 | K>E | No |
ClinGen gnomAD |
|
|
rs527448192 CA1885713 |
478 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1170091302 CA348646189 |
478 | Q>H | No |
ClinGen gnomAD |
|
|
CA1885712 rs200334482 |
478 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348646183 rs1558872440 |
479 | A>G | No |
ClinGen Ensembl |
|
|
rs1427668260 CA348646185 |
479 | A>S | No |
ClinGen gnomAD |
|
|
rs1190295499 CA348646178 |
480 | E>A | No |
ClinGen gnomAD |
|
|
rs750988507 CA1885710 |
481 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213710507 CA348646161 |
482 | G>D | No |
ClinGen gnomAD |
|
|
rs1401853702 CA348646156 |
483 | D>G | No |
ClinGen TOPMed |
|
|
rs202055620 CA56766788 |
484 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1885709 rs765807244 |
485 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226307655 CA348646125 |
487 | W>L | No |
ClinGen gnomAD |
|
|
CA56766787 rs369608038 |
488 | D>V | No |
ClinGen ESP |
|
|
rs762333215 CA1885708 |
490 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348646102 rs1558872372 |
491 | Q>* | No |
ClinGen Ensembl |
|
|
rs754242926 CA1885707 |
494 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348646068 rs1370836056 |
495 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348646043 rs1326021302 |
499 | N>S | No |
ClinGen TOPMed |
|
|
rs1225535871 CA348646029 |
501 | S>G | No |
ClinGen TOPMed |
|
|
CA348646020 rs1443190639 |
502 | S>A | No |
ClinGen gnomAD |
|
|
rs1280100654 CA348646017 |
502 | S>C | No |
ClinGen TOPMed |
|
|
CA1885705 rs760308894 |
503 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1885704 rs774893868 |
504 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885701 rs376332472 |
509 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885703 rs771566477 |
509 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA1885702 rs376332472 |
509 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885700 rs770854036 |
511 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749093116 CA1885699 |
512 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1885698 rs777474424 |
513 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348645948 rs1194232281 |
513 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| rs752447011 | 514 | F>= | Variant assessed as Somatic; 5.447e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA56596089 rs1044943187 |
515 | E>G | No |
ClinGen Ensembl |
|
|
rs373989017 CA1885678 |
515 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1885677 rs759155753 |
516 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM716769 rs974711541 CA56596078 |
519 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1485535842 CA348588579 |
522 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773841021 CA1885676 |
523 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs565236551 CA1885675 |
524 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1260662432 CA348588496 |
526 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 527 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348588490 rs1239841579 |
527 | V>L | No |
ClinGen gnomAD |
|
|
rs1352476022 CA348588467 |
528 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs367604967 CA1885674 |
529 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs765112091 | 533 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765112091 | 533 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885672 rs773008733 |
534 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1885671 rs769675112 |
534 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885668 rs780390433 |
537 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348588274 rs1453818035 |
539 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA348587961 rs935615 |
541 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885665 rs935615 VAR_030671 |
541 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1247909046 CA348587945 |
542 | S>* | No |
ClinGen TOPMed |
|
|
rs757870814 CA1885664 |
543 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756547070 CA1885661 |
545 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885659 rs7608121 |
546 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885658 rs7608121 VAR_030672 |
546 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753002480 CA1885660 |
546 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 547 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390394205 CA348587916 |
547 | E>K | No |
ClinGen gnomAD |
|
|
rs561345821 CA1885657 |
551 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1885656 rs765822870 |
552 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs773174023 CA56595996 CA1885654 |
555 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1232760397 CA348587806 |
557 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA56595992 rs78851113 |
557 | T>K | No |
ClinGen Ensembl |
|
|
rs761723399 CA1885652 |
558 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348587797 rs761723399 |
558 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885651 rs776229670 |
560 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA56595977 rs776229670 |
560 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs182848471 CA1885650 |
561 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs533207419 CA56595963 |
561 | A>V | No |
ClinGen Ensembl |
|
|
rs572288406 CA1885649 |
563 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199511562 CA1885648 |
564 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 564 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370677665 CA1885647 |
566 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 568 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267806953 CA348587640 |
570 | D>G | No |
ClinGen gnomAD |
|
|
rs749351816 CA1885646 |
570 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756568198 CA1885644 |
571 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA56595917 rs892303841 |
572 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA348587608 rs267598889 |
573 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885643 rs267598889 |
573 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373922685 CA1885641 |
575 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373922685 CA1885642 |
575 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA56595901 rs1039037414 |
577 | R>I | No |
ClinGen TOPMed |
|
|
rs576763166 CA1885636 |
583 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA56595900 rs778668389 |
583 | S>T | No |
ClinGen Ensembl |
|
|
CA348587474 rs1292255581 |
584 | E>K | No |
ClinGen gnomAD |
|
|
rs776522807 CA1885633 |
585 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs536760533 CA1885634 |
585 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348587441 rs1228871939 |
586 | H>Y | No |
ClinGen gnomAD |
|
|
rs1369598925 CA348587405 |
588 | S>R | No |
ClinGen gnomAD |
|
|
CA348587417 rs1387181657 |
588 | S>R | No |
ClinGen gnomAD |
|
|
CA348587398 rs1367199975 |
589 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1367199975 CA348587400 |
589 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs202027165 CA1885630 |
590 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885628 rs749439737 |
591 | E>G | No |
ClinGen ExAC |
|
|
rs773111737 CA1885627 |
593 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 593 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324982548 CA348587376 |
593 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1885626 rs770362471 |
596 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748551357 CA1885625 |
597 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337350796 CA348587352 |
597 | S>P | No |
ClinGen TOPMed |
|
|
rs755372792 CA1885623 |
598 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs781705733 CA1885624 |
598 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs747368659 CA1885622 COSM1738634 |
599 | Q>K | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1885620 rs757986625 |
600 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61732188 CA1885621 |
600 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885619 rs200823309 |
601 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76333606 CA348587328 |
601 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76333606 CA1885618 |
601 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885617 rs757243667 |
602 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348587324 rs757243667 |
602 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753768647 CA1885616 |
604 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1885613 RCV000946642 rs61732190 |
605 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA348587305 rs1479907249 |
606 | E>Q | No |
ClinGen TOPMed |
|
|
rs376892441 CA1885611 |
608 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348587253 rs1251766043 |
611 | A>T | No |
ClinGen TOPMed |
|
|
rs955630323 CA56595781 |
611 | A>V | No |
ClinGen gnomAD |
|
|
CA1885610 rs773360393 |
612 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs111240763 CA1885608 |
613 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111240763 CA1885609 |
613 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176088486 CA348587228 |
614 | Q>* | No |
ClinGen TOPMed |
|
|
CA348587222 rs1431982577 |
614 | Q>H | No |
ClinGen gnomAD |
|
|
rs369012868 CA348587202 |
616 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369012868 CA1885607 |
616 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348587200 rs1573716931 |
617 | T>P | No |
ClinGen Ensembl |
|
|
rs1415504980 CA348587174 |
618 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1885604 rs780327902 |
619 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348587135 rs1381404208 |
621 | P>L | No |
ClinGen Ensembl |
|
|
CA1885603 rs771741549 |
623 | E>A | No |
ClinGen ExAC |
|
|
CA348587084 rs1558845921 |
624 | G>V | No |
ClinGen Ensembl |
|
|
rs778606468 CA1885601 |
627 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348587031 rs1483899796 |
628 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348587000 rs1255090950 COSM216512 |
629 | L>F | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1305826776 CA348586971 |
630 | C>* | No |
ClinGen TOPMed |
|
|
CA1885600 rs756757933 |
631 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753387351 CA1885599 |
632 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753387351 CA348586943 |
632 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348586925 rs1309268080 |
633 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1017064938 CA56595741 |
633 | I>V | No |
ClinGen gnomAD |
|
|
CA1885598 rs777919371 |
634 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs756061093 CA348586879 |
635 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 636 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348586845 rs1490717915 |
637 | E>* | No |
ClinGen TOPMed |
|
|
CA1885596 rs59900519 |
637 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353209821 CA348586837 |
637 | E>D | No |
ClinGen gnomAD |
|
|
rs59900519 CA348586842 |
637 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_061237 rs59900519 CA1885595 |
637 | E>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA56595698 rs951669884 |
639 | P>S | No |
ClinGen Ensembl |
|
|
CA1885594 rs368914606 |
644 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885592 rs138802764 |
646 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765488430 CA1885591 |
647 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1025244671 CA56595655 |
648 | Q>E | No |
ClinGen Ensembl |
|
|
rs1423792047 CA348586598 |
649 | G>S | No |
ClinGen TOPMed |
|
|
CA348585752 rs1341816357 |
654 | Q>H | No |
ClinGen TOPMed |
|
|
CA348585732 rs1322573006 |
656 | D>Y | No |
ClinGen gnomAD |
|
|
rs796691737 CA56593771 |
657 | S>R | No |
ClinGen TOPMed |
|
|
rs113847534 CA1885576 |
659 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222693253 CA348585668 |
660 | H>R | No |
ClinGen gnomAD |
|
|
rs781240329 CA1885575 |
665 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs550869330 CA56593732 |
666 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1021520590 CA56593731 |
668 | D>A | No |
ClinGen TOPMed |
|
|
rs1021520590 CA56593725 |
668 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 668 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885574 rs754793974 |
668 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA56593713 rs536039214 |
669 | D>G | No |
ClinGen 1000Genomes |
|
|
rs79518188 CA56593699 |
673 | D>Y | No |
ClinGen Ensembl |
|
|
rs769096270 CA1885573 |
674 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210040322 CA348585306 |
675 | S>F | No |
ClinGen gnomAD |
|
|
rs1248582383 CA348585315 |
675 | S>P | No |
ClinGen gnomAD |
|
|
CA348585291 rs1290182771 |
676 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767112215 CA1885571 |
678 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 680 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348585177 rs1476215316 |
681 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 683 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885570 rs753895556 |
683 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348585131 rs1264462310 |
683 | D>N | No |
ClinGen gnomAD |
|
|
TCGA novel rs1412483656 CA757393155 |
684 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
| TCGA novel | 684 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368267667 CA1885569 |
685 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1366541836 CA348584900 |
690 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA56593693 rs1019157191 |
690 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1366541836 CA348584895 |
690 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA56593692 rs747572814 |
691 | Q>E | No |
ClinGen gnomAD |
|
|
rs1334264785 CA348584831 |
693 | E>Q | No |
ClinGen gnomAD |
|
|
CA56593685 rs1022906253 |
694 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 694 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885566 rs776017390 |
697 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866550838 CA56593665 |
698 | A>D | No |
ClinGen Ensembl |
|
|
CA348584718 rs1448703344 |
698 | A>P | No |
ClinGen gnomAD |
|
|
rs1573710789 CA348584678 |
700 | S>G | No |
ClinGen Ensembl |
|
|
rs1012802511 CA56593654 |
701 | K>M | No |
ClinGen TOPMed |
|
|
rs1390703300 CA348584627 |
702 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA348584601 rs1283780208 |
703 | E>* | No |
ClinGen TOPMed |
|
|
CA1885565 rs768009873 |
705 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348584536 rs1452009957 |
705 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348584534 rs1452009957 |
705 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1452009957 CA348584535 |
705 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191297417 CA348584447 |
708 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1885564 rs759878656 |
708 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770499003 CA1885562 |
712 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1885561 rs199659879 |
713 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348584254 rs1558843472 |
714 | T>I | No |
ClinGen Ensembl |
|
|
CA56593623 rs902594500 |
715 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 716 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189529531 CA348584205 |
716 | Q>P | No |
ClinGen TOPMed |
|
|
rs769465260 CA1885559 |
717 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747654371 CA348584164 |
718 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747654371 CA1885558 |
718 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1042426071 CA56593583 |
719 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1885543 rs773062146 |
720 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1325298918 CA348583701 |
721 | Q>R | No |
ClinGen TOPMed |
|
|
CA348583690 rs1279957021 |
722 | W>* | No |
ClinGen TOPMed |
|
|
rs1398080506 CA348583694 |
722 | W>* | No |
ClinGen TOPMed |
|
|
CA348583666 rs1309549813 |
726 | D>N | No |
ClinGen gnomAD |
|
|
CA348583653 rs1394082414 |
727 | T>I | No |
ClinGen gnomAD |
|
|
rs747670973 CA1885541 |
728 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348583646 rs1173130931 |
729 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1885540 rs776213535 |
729 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1885539 rs768505901 |
730 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 732 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957788389 CA56591798 |
732 | D>N | No |
ClinGen Ensembl |
|
|
rs746915144 CA1885538 |
733 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs207462407 CA1885537 |
735 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1465234250 CA348583589 |
737 | C>S | No |
ClinGen gnomAD |
|
|
rs1186236833 CA348583571 |
740 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1885536 rs771942783 |
740 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs745658870 CA1885535 |
741 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1885533 rs370147456 |
741 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885534 rs370147456 |
741 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377756657 CA1885532 |
742 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348583544 rs1229089044 |
744 | R>Q | No |
ClinGen gnomAD |
|
|
CA1885531 rs200511870 |
744 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348583534 rs1475163796 |
746 | H>Y | No |
ClinGen TOPMed |
|
|
CA348583518 rs766787700 |
748 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1885528 rs766787700 |
748 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs763467082 CA1885527 |
749 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1180448242 CA348583486 |
751 | D>V | No |
ClinGen TOPMed |
|
|
rs1482958678 CA348583487 |
751 | D>Y | No |
ClinGen TOPMed |
|
|
CA1885514 rs756223665 |
754 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550388770 CA1885513 |
755 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1885512 rs373108921 |
756 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885511 rs529044637 |
757 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1885510 rs369602423 |
758 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1296869988 CA348583404 |
759 | F>L | No |
ClinGen gnomAD |
|
|
rs768323191 CA56589305 |
761 | P>R | No |
ClinGen Ensembl |
|
|
rs867219429 CA56589297 |
762 | L>M | No |
ClinGen Ensembl |
|
|
rs1412250702 CA348583379 |
762 | L>R | No |
ClinGen TOPMed |
|
|
CA348583356 rs1435149098 |
764 | I>T | No |
ClinGen gnomAD |
|
|
CA348583351 rs1390261116 |
765 | K>E | No |
ClinGen gnomAD |
|
|
CA348583352 rs1390261116 |
765 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 766 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348583331 rs1375967997 |
767 | D>N | No |
ClinGen TOPMed |
|
|
CA348583274 rs1391008184 |
770 | E>G | No |
ClinGen gnomAD |
|
|
CA1885508 rs374940077 |
771 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189834216 CA348583221 |
773 | P>Q | No |
ClinGen gnomAD |
|
|
CA1885506 rs753567922 |
773 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA56589279 rs866373825 |
774 | A>S | No |
ClinGen gnomAD |
|
|
rs748948164 CA56589267 |
775 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348583201 rs748948164 |
775 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1885505 rs763651057 |
776 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348583154 rs1365661428 |
777 | Q>* | No |
ClinGen TOPMed |
|
|
rs1211413604 CA348583049 |
782 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1885502 rs774807770 |
782 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772003075 CA348583029 |
783 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885501 rs772003075 |
783 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752285645 CA1885485 |
786 | L>S | No |
ClinGen ExAC |
|
|
CA56588604 rs201666971 |
788 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885484 rs201666971 |
788 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885483 rs368363076 |
790 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1885482 rs774316820 |
790 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1885481 rs766286045 |
791 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56588580 rs1005067939 |
792 | W>* | No |
ClinGen gnomAD |
|
|
CA348582323 rs1448662441 |
792 | W>C | No |
ClinGen TOPMed |
|
|
CA56588581 rs75070328 |
792 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885480 rs75070328 |
792 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200457883 CA1885479 |
794 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 797 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA56588538 rs1036357203 |
798 | M>I | No |
ClinGen Ensembl |
|
|
rs768951318 CA1885477 |
798 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 800 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427294243 CA348582263 |
801 | R>K | No |
ClinGen gnomAD |
|
|
CA1885476 rs747148962 |
802 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs775830960 CA1885475 |
804 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 806 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772317265 CA1885474 |
808 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779621882 CA1885472 |
812 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA1885471 rs757781060 |
813 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs371994410 CA1885470 COSM1613406 |
814 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs755816407 CA1885468 |
815 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755816407 CA1885469 |
815 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs755816407 CA348582171 |
815 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348582160 rs752344539 |
817 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1280044949 CA348582154 |
818 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA56588450 rs947150416 |
819 | E>D | No |
ClinGen gnomAD |
|
|
CA1885464 rs767130473 |
819 | E>K | No |
ClinGen ExAC |
|
|
rs754536177 CA1885463 |
821 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751010365 CA1885462 |
823 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1429105284 CA348582109 |
824 | Q>R | No |
ClinGen TOPMed |
|
|
rs1558835964 CA348582079 |
828 | N>S | No |
ClinGen Ensembl |
|
|
CA1885460 rs142253659 |
830 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348582050 rs1361406757 |
832 | R>I | No |
ClinGen gnomAD |
|
|
rs955236293 CA348580629 |
832 | R>S | No |
ClinGen gnomAD |
|
|
rs1448812036 CA348580619 |
834 | I>V | No |
ClinGen gnomAD |
|
|
rs1029594155 CA56584091 |
835 | T>I | No |
ClinGen TOPMed |
|
|
CA1885436 rs566144005 |
836 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA56584085 rs997510669 |
836 | K>N | No |
ClinGen Ensembl |
|
|
CA1885435 rs753629147 |
837 | E>V | No |
ClinGen ExAC |
|
|
rs767857412 CA1885434 |
838 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA348580591 rs1205770199 |
838 | D>G | No |
ClinGen TOPMed |
|
|
CA56584082 rs900527075 |
839 | V>I | No |
ClinGen gnomAD |
|
|
rs1264550279 CA348580581 |
840 | A>S | No |
ClinGen gnomAD |
|
|
CA1885432 rs774597691 |
841 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885429 rs186820943 |
844 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564039843 CA56584061 |
846 | K>R | No |
ClinGen Ensembl |
|
|
CA348580528 rs1299844186 |
848 | K>R | No |
ClinGen gnomAD |
|
|
rs770273015 CA1885428 |
850 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348580514 rs1385221418 |
850 | V>L | No |
ClinGen gnomAD |
|
|
rs781492529 CA1885426 |
851 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779725032 CA348580502 |
852 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779725032 CA1885423 |
852 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885424 rs779725032 |
852 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001789323 CA56584023 |
853 | H>R | No |
ClinGen TOPMed |
|
|
rs1390723450 CA348580486 |
855 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1885419 rs377722888 |
855 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA348580485 rs377722888 |
855 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757151946 CA1885418 |
859 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56584004 rs929481762 |
860 | E>K | No |
ClinGen Ensembl |
|
|
rs1295517088 CA348580449 |
861 | S>A | No |
ClinGen TOPMed |
|
|
CA348580434 rs1266187886 |
863 | P>L | No |
ClinGen gnomAD |
|
|
rs762128087 CA1885416 |
864 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753718080 CA1885417 |
864 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56583993 rs1011730408 |
865 | D>E | No |
ClinGen TOPMed |
|
|
CA348580419 rs1320422442 |
866 | P>R | No |
ClinGen TOPMed |
|
|
rs1163016748 CA348580422 |
866 | P>T | No |
ClinGen gnomAD |
|
|
CA56583496 rs749289959 |
871 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885399 rs749289959 |
871 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348580370 rs1573670500 |
872 | L>V | No |
ClinGen Ensembl |
|
|
rs777825209 CA1885398 |
873 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250008075 CA348580365 |
873 | E>Q | No |
ClinGen TOPMed |
|
|
rs372783913 CA1885397 |
874 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1308908992 CA348580351 |
875 | G>R | No |
ClinGen gnomAD |
|
|
rs766509865 CA1885395 |
876 | A>T | No |
ClinGen ExAC |
|
|
CA348580339 rs1401428732 |
877 | C>R | No |
ClinGen gnomAD |
|
|
CA1885394 rs115961809 |
877 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1885393 rs750487970 |
878 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA348580327 rs1453420609 |
879 | P>A | No |
ClinGen TOPMed |
|
|
CA1885392 rs765400604 |
879 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA56583461 rs765400604 |
879 | P>Q | No |
ClinGen ExAC TOPMed |
|
|
CA348580326 rs1453420609 |
879 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 883 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1885390 rs777182347 |
884 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1885389 rs372497482 |
885 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348580275 rs201249007 |
887 | Q>L | No |
ClinGen ExAC TOPMed |
|
|
CA1885387 rs201249007 |
887 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs775866595 CA1885386 |
889 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 891 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348580251 rs1298526298 |
891 | T>N | No |
ClinGen TOPMed |
|
|
rs771643994 CA1885385 |
891 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745492330 CA1885384 |
892 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773842184 CA1885383 |
894 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1267715548 CA348580234 |
894 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748790879 CA1885381 |
895 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262212934 CA348580230 |
895 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1439142871 CA348580221 |
896 | T>I | No |
ClinGen gnomAD |
|
|
rs144033732 CA1885379 |
899 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348580196 rs1302579100 |
900 | Y>C | No |
ClinGen gnomAD |
|
|
CA1885378 rs747921313 |
901 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA348580190 rs1214522103 |
901 | L>W | No |
ClinGen TOPMed |
|
|
rs1033247944 CA56583354 |
902 | Q>* | No |
ClinGen TOPMed |
|
|
rs1309750397 CA348580178 |
903 | A>T | No |
ClinGen TOPMed |
|
|
rs1400864364 CA348580164 |
905 | D>G | No |
ClinGen gnomAD |
|
|
rs1319345400 CA348580166 |
905 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1885377 rs781003862 |
906 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1272931500 CA348580155 |
906 | N>I | No |
ClinGen TOPMed |
|
|
rs754701885 CA1885376 |
906 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA348580131 rs1467764417 |
910 | P>T | No |
ClinGen TOPMed |
|
|
rs1000826125 CA56583350 |
911 | L>F | No |
ClinGen Ensembl |
|
|
CA348580121 rs1186016381 |
911 | L>R | No |
ClinGen gnomAD |
|
|
CA1885374 rs369985135 |
913 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1885373 rs757395713 |
914 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757395713 CA348580107 |
914 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885371 rs114791090 |
914 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114791090 CA1885372 |
914 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs575684234 CA56583339 |
915 | C>S | No |
ClinGen Ensembl |
|
|
CA348580095 rs1448944289 |
916 | Q>E | No |
ClinGen gnomAD |
|
|
CA56583335 rs372566181 |
916 | Q>L | No |
ClinGen ESP TOPMed |
|
|
rs753033293 CA1885369 |
917 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA348580078 rs1355442429 |
918 | P>L | No |
ClinGen gnomAD |
|
|
CA1885368 rs767963956 |
920 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1885366 rs774109161 |
924 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 927 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769887849 CA1885363 |
928 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs547914760 CA1885364 |
928 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769887849 CA1885362 |
928 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 931 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780972496 CA1885360 |
932 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1885359 rs376134582 |
933 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885356 rs779112695 |
934 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202133794 CA1885357 |
934 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885354 rs753937381 |
936 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs181667799 CA1885353 |
937 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348579855 rs1395464997 |
938 | L>P | No |
ClinGen TOPMed |
|
|
CA1885352 rs756114664 |
939 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs767895088 CA1885350 |
939 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1430151889 CA348579833 |
940 | C>Y | No |
ClinGen TOPMed |
|
|
CA348579794 rs1273911618 |
943 | E>A | No |
ClinGen gnomAD |
|
|
rs1558828738 CA348579766 |
945 | W>S | No |
ClinGen Ensembl |
|
|
rs367951058 CA1885347 COSM1006806 |
947 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1885346 COSM1006804 rs766138879 |
947 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762659676 CA1885345 |
949 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348579598 rs1305278825 |
953 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769481554 CA1885343 |
955 | A>G | No |
ClinGen ExAC |
|
|
CA348579555 rs1370452317 |
955 | A>S | No |
ClinGen gnomAD |
|
|
CA56583177 rs769481554 |
955 | A>V | No |
ClinGen ExAC |
|
|
rs1321942154 CA348579536 |
956 | K>* | No |
ClinGen TOPMed |
|
|
rs1321942154 CA348579537 |
956 | K>E | No |
ClinGen TOPMed |
|
|
CA348579535 rs1330207185 |
956 | K>R | No |
ClinGen gnomAD |
|
|
rs1214523059 CA348579488 |
958 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 959 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348579387 rs1423105432 |
962 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1480855269 CA348579320 |
966 | Q>H | No |
ClinGen gnomAD |
|
|
CA348579325 rs1483787955 |
966 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1431799045 CA348579318 |
967 | L>V | No |
ClinGen gnomAD |
|
|
CA348579253 rs768412351 |
972 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885340 rs768412351 |
972 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348579245 rs1166785422 |
973 | Q>E | No |
ClinGen TOPMed |
|
|
CA348579239 rs1399311771 |
973 | Q>R | No |
ClinGen Ensembl |
|
|
CA1885339 rs746835208 |
975 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885336 rs749550918 |
978 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs749550918 CA348579125 |
978 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348579122 rs777948854 |
978 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1885335 rs777948854 |
978 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA348579108 rs1323801630 |
979 | L>R | No |
ClinGen gnomAD |
|
|
rs756273481 CA1885334 |
980 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs752712381 CA1885333 |
982 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885332 rs781723521 |
983 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs755379515 CA1885331 |
985 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs368622931 CA1885330 |
986 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA56583130 rs368622931 |
986 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885329 rs766894189 |
987 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1885328 CA56583113 rs758816699 |
988 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1885327 COSM1186006 rs750160406 |
989 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs374460996 CA56583102 |
990 | L>I | No |
ClinGen ESP gnomAD |
|
|
CA1885324 rs761392151 |
992 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1885323 rs775946897 |
995 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs764115468 CA1885322 |
996 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 997 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348578769 rs1182410289 |
998 | K>E | No |
ClinGen gnomAD |
|
|
CA348578764 rs1379458430 |
998 | K>T | No |
ClinGen TOPMed |
|
|
rs1264484457 CA348578724 |
1000 | P>L | No |
ClinGen gnomAD |
|
|
CA348578715 rs1573668906 |
1001 | L>S | No |
ClinGen Ensembl |
|
|
CA348577250 rs1290905419 |
1007 | M>I | No |
ClinGen gnomAD |
|
|
CA1885300 rs759329064 |
1008 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA348577198 rs1558824968 |
1010 | N>S | No |
ClinGen Ensembl |
|
|
rs1558824968 CA348577199 |
1010 | N>T | No |
ClinGen Ensembl |
|
|
rs968549580 CA56580620 |
1011 | P>S | No |
ClinGen TOPMed |
|
|
rs1467751993 CA348577179 |
1012 | G>R | No |
ClinGen TOPMed |
|
|
rs773956606 CA1885298 |
1014 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1015 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770074349 CA1885296 |
1017 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427444597 CA348577042 |
1018 | Q>E | No |
ClinGen gnomAD |
|
|
CA348577014 rs1419766977 |
1019 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348576995 rs1187860007 |
1020 | D>G | No |
ClinGen gnomAD |
|
|
CA348576947 rs1268545812 |
1022 | I>N | No |
ClinGen gnomAD |
|
|
CA348576874 rs1490980420 |
1025 | V>L | No |
ClinGen gnomAD |
|
|
rs372611635 CA1885291 |
1027 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1271987 CA348576846 rs747084229 CA1885293 |
1027 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs372611635 CA1885290 |
1027 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885292 rs747084229 |
1027 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56580597 rs866644990 |
1028 | G>R | No |
ClinGen gnomAD |
|
|
rs1367184436 CA348576809 |
1029 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1885288 rs779108761 |
1030 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1885289 rs746258198 |
1030 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159895798 CA348576771 |
1031 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1367331164 CA348576751 |
1032 | C>* | No |
ClinGen gnomAD |
|
|
CA348576728 rs1306162705 |
1033 | S>F | No |
ClinGen gnomAD |
|
|
rs1431039206 TCGA novel CA348576691 |
1035 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA348576646 rs1200595448 |
1038 | Q>* | No |
ClinGen gnomAD |
|
|
CA348576622 rs1307363622 |
1039 | T>I | No |
ClinGen TOPMed |
|
|
rs886352097 CA56580592 |
1039 | T>S | No |
ClinGen Ensembl |
|
|
CA1885282 rs1553454623 |
1046 | K>R | No |
ClinGen Ensembl |
|
|
rs1258679063 CA348575569 |
1049 | T>S | No |
ClinGen gnomAD |
|
|
CA348575494 rs1309111907 |
1054 | K>E | No |
ClinGen gnomAD |
|
|
rs755703444 CA1885263 |
1060 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348575258 rs1293471307 |
1068 | H>R | No |
ClinGen TOPMed |
|
|
rs910630210 CA56579835 |
1069 | G>E | No |
ClinGen gnomAD |
|
|
CA1885262 rs372367967 |
1072 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1885261 rs780636487 |
1074 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369286457 CA1885260 |
1074 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348575137 rs1558823080 |
1075 | F>L | No |
ClinGen Ensembl |
|
|
rs766340441 CA1885258 |
1075 | F>V | No |
ClinGen ExAC gnomAD |
|
| rs773527605 | 1076 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762663357 CA1885256 |
1077 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1463704055 CA348575090 |
1078 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1573653993 CA348575066 |
1079 | K>T | No |
ClinGen Ensembl |
No associated diseases with Q5FWF4
6 regional properties for Q5FWF4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SNF2, N-terminal | 54 - 287 | IPR000330 |
| domain | Helicase, C-terminal | 325 - 481 | IPR001650 |
| domain | Zinc finger, RanBP2-type | 621 - 650 | IPR001876 |
| domain | HNH endonuclease | 1011 - 1051 | IPR002711 |
| domain | HNH nuclease | 995 - 1049 | IPR003615 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 33 - 211 | IPR014001 |
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear replication fork | The Y-shaped region of a nuclear replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
| ATP-dependent DNA/DNA annealing activity | An ATP-dependent activity that facilitates the formation of a complementary double-stranded DNA molecule. |
| endodeoxyribonuclease activity | Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid by creating internal breaks. |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| K63-linked polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 63 in the target protein. |
| metal ion binding | Binding to a metal ion. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| DNA rewinding | The process in which interchain hydrogen bonds between two single-stranded DNA (ssDNA) are reformed to regenerate double-stranded DNA (dsDNA). ssDNA is often bound and stabilized by proteins such as replication protein A (RPA) to form ssDNA bubbles. The bubbles can be rewound by ATP-dependent motors to reform base pairs between strands and thus dsDNA. |
| negative regulation of DNA recombination | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. |
| replication fork processing | The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes. |
| replication fork protection | Any process that prevents the collapse of stalled replication forks. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9TTA5 | SMARCAL1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Bos taurus (Bovine) | PR |
| Q9NZC9 | SMARCAL1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Homo sapiens (Human) | PR |
| Q8BJL0 | Smarcal1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Mus musculus (Mouse) | PR |
| B4F769 | Smarcal1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Rattus norvegicus (Rat) | PR |
| Q8MNV7 | smrc-1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 homolog | Caenorhabditis elegans | PR |
| B2ZFP3 | smarcal1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPRVHNIKKS | LTPHISCVTN | ESDNLLDFLP | DRLRAKLLPF | QKDGIIFALK | RNGRCMVADE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MGLGKTIQAI | GITYFYKEEW | PLLIVVPSSL | RYPWTEEIEK | WIPELSPEEI | NVIQNKTDVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RMSTSKVTVL | GYGLLTADAK | TLIDALNNQN | FKVVIVDESH | YMKSRNATRS | RILLPIVQKA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRAILLTGTP | ALGRPEELFM | QIEALFPQKF | GRWTDYAKRY | CNAHIRYFGK | RPQWDCRGAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLNELHQLLS | DIMIRRLKTE | VLTQLPPKVR | QRIPFDLPSA | AAKELNTSFE | EWEKIMRTPN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SGAMETVMGL | ITRMFKQTAI | AKAGAVKDYI | KMMLQNDSLK | FLVFAHHLSM | LQACTEAVIE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NKTRYIRIDG | SVSSSERIHL | VNQFQKDPDT | RVAILSIQAA | GQGLTFTAAS | HVVFAELYWD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PGHIKQAEDR | AHRIGQCSSV | NIHYLIANGT | LDTLMWGMLN | RKAQVTGSTL | NGRKEKIQAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EGDKEKWDFL | QFAEAWTPND | SSEELRKEAL | FTHFEKEKQH | DIRSFFVPQP | KKRQLMTSCD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ESKRFREENT | VVSSDPTKTA | ARDIIDYESD | VEPETKRLKL | AASEDHCSPS | EETPSQSKQI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RTPLVESVQE | AKAQLTTPAF | PVEGWQCSLC | TYINNSELPY | CEMCETPQGS | AVMQIDSLNH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IQDKNEKDDS | QKDTSKKVQT | ISDCEKQALA | QSEPGQLADS | KEETPKIEKE | DGLTSQPGNE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QWKSSDTLPV | YDTLMFCASR | NTDRIHIYTK | DGKQMSCNFI | PLDIKLDLWE | DLPASFQLKQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YRSLILRFVR | EWSSLTAMKQ | RIIRKSGQLF | CSPILALEEI | TKQQTKQNCT | KRYITKEDVA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VASMDKVKNV | GGHVRLITKE | SRPRDPFTKK | LLEDGACVPF | LNPYTVQADL | TVKPSTSKGY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LQAVDNEGNP | LCLRCQQPTC | QTKQACKANS | WDSRFCSLKC | QEEFWIRSNN | SYLRAKVFET |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EHGVCQLCNV | NAQELFLRLR | DAPKSQRKNL | LYATWTSKLP | LEQLNEMIRN | PGEGHFWQVD |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| HIKPVYGGGG | QCSLDNLQTL | CTVCHKERTA | RQAKERSQVR | RQSLASKHGS | DITRFLVKK |