Q659C4
PR
Gene name |
LARP1B (LARP2) |
Protein name |
La-related protein 1B |
Names |
La ribonucleoprotein domain family member 1B, La ribonucleoprotein domain family member 2, La-related protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55132 |
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 Q659C4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q659C4-F1 | Predicted | AlphaFoldDB |
709 variants for Q659C4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs193920764 COSM1178652 CA174878 RCV000149372 |
442 | D>Y | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs776374874 CA3077998 |
3 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776374874 CA358177769 |
3 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358177807 rs1419543918 |
8 | S>R | No |
ClinGen gnomAD |
|
|
rs1175225040 CA358177827 |
11 | V>A | No |
ClinGen TOPMed |
|
|
rs1162056299 CA358177823 |
11 | V>M | No |
ClinGen gnomAD |
|
|
CA3078001 rs753449601 |
12 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358178221 rs1454862754 |
15 | F>L | No |
ClinGen gnomAD |
|
|
rs575435059 CA3078016 |
16 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs868012630 CA105719516 |
16 | Q>R | No |
ClinGen Ensembl |
|
|
rs200457224 CA3078017 |
18 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251726938 CA358178303 |
21 | Q>H | No |
ClinGen TOPMed |
|
|
CA358178311 rs1381639439 |
22 | G>E | No |
ClinGen gnomAD |
|
|
CA3078018 rs780263225 |
22 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358178325 rs1561078828 |
23 | N>S | No |
ClinGen Ensembl |
|
|
CA358178323 rs1561078828 |
23 | N>T | No |
ClinGen Ensembl |
|
|
CA105719554 rs77818450 |
26 | P>Q | No |
ClinGen Ensembl |
|
|
rs769330137 CA3078020 |
26 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA358178374 rs1242381893 |
27 | Q>R | No |
ClinGen gnomAD |
|
|
CA105719561 rs1049797556 |
28 | N>D | No |
ClinGen Ensembl |
|
|
CA3078022 rs748821366 |
28 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 29 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940872458 CA105719601 |
31 | E>G | No |
ClinGen Ensembl |
|
|
rs975121848 CA105719619 |
37 | E>G | No |
ClinGen TOPMed |
|
|
rs975121848 CA358178498 |
37 | E>V | No |
ClinGen TOPMed |
|
|
CA3078025 rs759345001 |
39 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105719637 rs1045616068 |
42 | S>G | No |
ClinGen TOPMed |
|
|
rs1257892708 CA358178549 |
44 | S>N | No |
ClinGen TOPMed |
|
|
rs543669144 CA3078027 |
45 | K>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 46 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358178570 rs1176225027 |
47 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3078030 rs753988895 |
48 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373095381 CA3078029 |
48 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358178592 rs761910539 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3078031 rs761910539 |
50 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs765250040 CA3078032 |
51 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358178616 rs1561079962 |
54 | G>R | No |
ClinGen Ensembl |
|
|
rs377228613 CA3078034 |
55 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377228613 CA3078035 |
55 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358178625 rs1561080086 |
56 | G>S | No |
ClinGen Ensembl |
|
|
CA358178633 rs1579921595 |
57 | E>* | No |
ClinGen Ensembl |
|
|
CA105719678 rs1031300293 |
58 | N>D | No |
ClinGen TOPMed |
|
|
CA3078038 rs150798326 |
59 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3078039 rs777573864 |
60 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA105719694 CA3078040 rs199651981 |
61 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303275537 CA358178669 |
62 | D>E | No |
ClinGen gnomAD |
|
|
rs770589923 CA3078041 |
62 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778533502 CA3078042 |
66 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370433672 CA3078043 |
67 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771889268 CA3078044 |
69 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3078046 COSM238557 rs760387513 |
70 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3078048 COSM1213103 rs768396456 |
70 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768396456 CA3078047 |
70 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078061 rs745382079 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3078062 rs771543999 |
74 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA105723537 rs112233860 |
75 | K>E | No |
ClinGen Ensembl |
|
|
CA3078063 rs779883149 |
77 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078065 rs768486304 |
82 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA358179539 rs1462091261 CA358179542 |
83 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs776382570 CA3078067 |
86 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA358179660 rs1342189491 |
89 | E>D | No |
ClinGen gnomAD |
|
|
CA358179683 rs1397891162 |
91 | Q>* | No |
ClinGen gnomAD |
|
|
rs773429863 CA3078071 |
94 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs144025629 CA358179787 |
97 | R>G | No |
ClinGen ESP gnomAD |
|
|
rs144025629 CA105723623 |
97 | R>W | No |
ClinGen ESP gnomAD |
|
|
rs762946280 CA3078072 |
98 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs766442909 CA3078073 |
98 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078074 rs774744346 |
101 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA358179867 rs1489507996 |
101 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs540231781 CA105723631 |
104 | P>H | No |
ClinGen 1000Genomes |
|
|
CA358180017 rs1382305402 |
110 | T>I | No |
ClinGen TOPMed |
|
|
rs565016526 CA3078075 |
112 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA358180053 rs1366239822 |
114 | R>G | No |
ClinGen TOPMed |
|
|
rs1262746315 CA358180075 |
115 | R>I | No |
ClinGen gnomAD |
|
|
rs1561104501 CA358180119 |
118 | T>I | No |
ClinGen Ensembl |
|
|
rs753096211 CA3078078 |
119 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078079 COSM1213105 rs756487712 |
119 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA358173458 rs1382100857 |
120 | S>N | No |
ClinGen gnomAD |
|
|
CA358173483 rs1437688300 |
122 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1157852074 CA358173496 |
123 | R>* | No |
ClinGen gnomAD |
|
|
CA358173523 rs1346546055 |
125 | R>T | No |
ClinGen TOPMed |
|
|
CA358173538 rs1306820847 |
126 | E>G | No |
ClinGen TOPMed |
|
|
rs1399318655 CA358173580 |
129 | D>E | No |
ClinGen TOPMed |
|
|
rs749479474 CA3078093 |
130 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA358173599 rs1298220090 |
131 | Q>E | No |
ClinGen TOPMed |
|
|
CA3078095 rs376124449 |
131 | Q>H | No |
ClinGen ESP ExAC |
|
|
CA3078097 rs760176527 |
134 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358173658 rs1480600738 |
135 | S>F | No |
ClinGen TOPMed |
|
|
CA358173649 rs1332722133 |
135 | S>T | No |
ClinGen gnomAD |
|
|
CA105691458 rs546369374 |
136 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA358173664 rs1238556165 |
136 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358173684 rs1346214569 |
138 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3078099 rs776072253 |
139 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358173706 rs1196409159 |
139 | S>R | No |
ClinGen TOPMed |
|
|
CA3078100 rs761152096 |
140 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3078101 rs764467098 |
143 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA358173739 rs1199366004 |
143 | N>S | No |
ClinGen gnomAD |
|
|
CA358173736 rs764467098 |
143 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368509251 CA3078102 |
144 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758035260 CA3078106 |
145 | R>* | No |
ClinGen ExAC TOPMed |
|
|
CA3078105 rs758035260 |
145 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs1456411767 CA358173758 |
145 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3078107 rs564633746 |
146 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564633746 CA358173762 |
146 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358173766 rs1378119560 |
146 | G>V | No |
ClinGen gnomAD |
|
|
rs371071215 CA3078108 |
150 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358173847 rs1424041080 COSM1695000 |
151 | R>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA358173850 rs1324613703 |
151 | R>Q | No |
ClinGen TOPMed |
|
|
rs754431091 CA3078109 |
152 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA358173860 CA358173863 rs1465771488 |
152 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 153 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358173892 rs1445378446 |
155 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3078111 rs748037803 |
155 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358173912 rs755884569 |
157 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143377506 CA358173921 |
157 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143377506 CA3078113 |
157 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3078112 rs755884569 |
157 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358173933 rs1351826255 |
158 | G>E | No |
ClinGen gnomAD |
|
|
CA358173924 rs1273384004 |
158 | G>R | No |
ClinGen gnomAD |
|
|
rs1219437718 CA358173960 CA358173961 |
160 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3078114 COSM357007 rs749514879 |
161 | R>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358173978 rs1316203352 |
161 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1387509043 CA358173993 |
162 | G>D | No |
ClinGen TOPMed |
|
|
CA358174010 rs1455176745 |
163 | R>K | No |
ClinGen TOPMed |
|
|
rs199969249 CA105691496 |
166 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868251340 CA105691499 |
167 | R>* | No |
ClinGen gnomAD |
|
|
rs1196503988 CA358174080 |
167 | R>Q | No |
ClinGen gnomAD |
|
|
rs1326708992 CA358174148 |
168 | L>W | No |
ClinGen TOPMed |
|
|
rs368253453 CA3078130 |
170 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365501175 CA358174181 |
171 | D>Y | No |
ClinGen gnomAD |
|
|
CA3078132 rs766969206 |
175 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358174257 rs1469431395 |
178 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA358174266 rs1156447592 |
179 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752684460 CA3078133 |
179 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358174291 rs1381819737 CA358174290 |
182 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3078134 rs756050222 |
185 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539263797 CA3078135 |
186 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1242686097 CA358174330 |
188 | Q>L | No |
ClinGen gnomAD |
|
|
rs909117198 CA105691605 |
189 | T>A | No |
ClinGen Ensembl |
|
|
CA358174337 rs1314382699 |
189 | T>R | No |
ClinGen gnomAD |
|
|
rs1354250985 CA358174348 |
191 | L>V | No |
ClinGen gnomAD |
|
|
rs756931721 CA3078138 CA358174380 |
195 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140388057 CA3078137 |
195 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200717366 CA358174388 |
196 | M>I | No |
ClinGen gnomAD |
|
|
rs1257810258 CA358174395 |
197 | Y>C | No |
ClinGen gnomAD |
|
|
CA3078139 rs779304425 |
199 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772327353 CA3078141 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358174418 rs1440795685 |
200 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1160851847 CA358174432 |
202 | G>D | No |
ClinGen gnomAD |
|
|
rs780250305 CA3078142 |
206 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078144 rs150383879 |
207 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358174475 rs1394372329 |
209 | P>S | No |
ClinGen gnomAD |
|
|
CA3078145 rs201056641 |
210 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105691629 rs201056641 |
210 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770104246 CA3078147 |
213 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358174512 rs773026501 |
215 | L>F | No |
ClinGen gnomAD |
|
|
CA105691642 rs773026501 |
215 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358174527 rs1580197882 |
217 | E>G | No |
ClinGen Ensembl |
|
|
rs759169958 CA3078150 |
217 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482037627 CA358174535 |
218 | Y>C | No |
ClinGen gnomAD |
|
|
CA3078151 rs767057115 |
219 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333940622 CA358174543 |
219 | I>T | No |
ClinGen gnomAD |
|
|
CA358174555 rs1458688804 |
221 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3078152 rs147779590 |
221 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA105691665 rs56210131 |
222 | Q>* | No |
ClinGen Ensembl |
|
|
rs1236867519 CA358174560 |
222 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3078170 rs745589559 |
224 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105694984 rs1052215433 |
227 | F>V | No |
ClinGen Ensembl |
|
|
rs1458310804 CA358174864 |
228 | S>G | No |
ClinGen gnomAD |
|
|
rs774936565 CA3078172 |
228 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA358174874 rs1365285041 |
229 | V>A | No |
ClinGen gnomAD |
|
|
CA105694998 rs890330131 |
230 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763459987 CA3078174 |
233 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1240877010 CA358174900 |
233 | E>K | No |
ClinGen TOPMed |
|
|
CA3078175 rs776676378 |
234 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776676378 CA358174905 |
234 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1051157 CA3078176 rs761810288 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 235 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078177 rs765190259 |
236 | F>C | No |
ClinGen ExAC TOPMed |
|
|
rs1307460822 CA358174938 |
239 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078178 rs371319932 |
240 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766715111 CA358174970 |
243 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs758208025 CA3078179 |
243 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1561196183 CA358174971 |
244 | E>K | No |
ClinGen Ensembl |
|
|
CA358174985 rs1384490894 |
245 | Q>H | No |
ClinGen TOPMed |
|
|
rs1038960893 CA105695042 |
249 | P>L | No |
ClinGen TOPMed |
|
|
CA358175014 rs146471609 |
250 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1184888619 CA358175018 |
250 | I>M | No |
ClinGen gnomAD |
|
|
CA3078181 rs146471609 |
250 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358175019 rs1418945577 |
251 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1424446006 CA358175028 |
252 | L>P | No |
ClinGen gnomAD |
|
|
CA358175036 rs1166895824 |
253 | I>M | No |
ClinGen gnomAD |
|
|
rs1561196548 CA358175063 |
257 | Q>H | No |
ClinGen Ensembl |
|
|
CA105695043 rs186254112 |
257 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3078182 rs755108665 |
258 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA358175080 rs1443341745 |
260 | Q>R | No |
ClinGen TOPMed |
|
|
CA105695047 rs965784527 |
261 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358175086 rs1187633183 |
261 | A>V | No |
ClinGen TOPMed |
|
|
rs1234095938 CA358175092 |
262 | L>R | No |
ClinGen gnomAD |
|
|
CA3078183 rs781113785 |
262 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3078184 rs748733884 |
263 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358175096 rs1272676607 |
263 | T>S | No |
ClinGen gnomAD |
|
|
rs1269202426 CA358175099 |
264 | T>A | No |
ClinGen gnomAD |
|
|
rs1332747751 CA358175111 |
265 | N>K | No |
ClinGen gnomAD |
|
|
CA105695053 rs893638976 |
266 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078185 rs756611818 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778170452 CA3078186 |
271 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs983971028 CA105699105 |
272 | A>T | No |
ClinGen Ensembl |
|
|
rs1561239982 CA358175768 |
275 | D>H | No |
ClinGen Ensembl |
|
|
rs200837138 CA358175790 |
278 | E>* | No |
ClinGen gnomAD |
|
|
CA105699109 rs200837138 |
278 | E>K | No |
ClinGen gnomAD |
|
|
rs749743015 CA3078207 |
278 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA3078208 rs757663968 |
281 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561240203 CA358175812 |
281 | I>T | No |
ClinGen Ensembl |
|
|
CA358175810 rs757663968 |
281 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746743165 CA3078210 |
283 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779112875 CA3078209 |
283 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA358175824 rs746743165 |
283 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460903842 CA358175841 |
285 | K>N | No |
ClinGen gnomAD |
|
|
rs1459936161 CA358175838 |
285 | K>T | No |
ClinGen TOPMed |
|
|
CA3078211 rs577784225 |
286 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3078212 rs780838221 |
287 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747664516 CA3078213 |
289 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3078214 rs769391582 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358175874 rs1157716725 |
290 | I>V | No |
ClinGen gnomAD |
|
|
rs908471758 CA105699146 |
291 | E>D | No |
ClinGen TOPMed |
|
|
rs1475226832 CA358175886 |
292 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358175902 rs1240673770 |
294 | K>T | No |
ClinGen TOPMed |
|
|
CA555019961 rs1173770723 |
295 | W>* | No |
ClinGen gnomAD |
|
|
CA3078215 rs773306146 |
296 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3078216 rs762962690 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934838571 CA105699153 |
299 | G>D | No |
ClinGen TOPMed |
|
|
rs1561240996 CA358175940 |
300 | P>S | No |
ClinGen Ensembl |
|
|
CA3078217 rs183387342 |
301 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA105699165 rs988993585 |
302 | P>S | No |
ClinGen TOPMed |
|
|
rs187112542 CA3078219 COSM272882 |
303 | R>C | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3078220 rs147901118 |
303 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147901118 CA3078221 |
303 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105699187 rs760763859 |
304 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078222 rs760763859 |
304 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323002288 CA358176000 |
308 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA105699190 rs1039023290 |
309 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3078223 rs764133108 |
311 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358176072 rs1462960383 |
314 | I>T | No |
ClinGen TOPMed |
|
|
CA3078226 rs779390740 |
316 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3078227 rs375607025 |
318 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772085851 CA105699207 |
318 | E>A | No |
ClinGen gnomAD |
|
|
rs375607025 CA3078228 |
318 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA105699215 rs1054001460 |
323 | Q>H | No |
ClinGen Ensembl |
|
|
rs780741398 CA3078229 |
323 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs892736542 CA105699221 |
324 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs892736542 CA358176189 |
324 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358176196 rs1417598943 |
325 | F>L | No |
ClinGen TOPMed |
|
|
rs747756069 CA3078230 |
327 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1169937436 CA358176242 |
328 | H>P | No |
ClinGen TOPMed |
|
|
rs776567309 CA105699237 |
329 | T>I | No |
ClinGen gnomAD |
|
|
rs776567309 CA358176254 |
329 | T>K | No |
ClinGen gnomAD |
|
|
CA358177349 rs1561277770 |
332 | A>T | No |
ClinGen Ensembl |
|
|
rs773643666 CA3078268 |
332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs139146175 CA3078270 |
333 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1055223505 CA105702682 |
336 | P>S | No |
ClinGen gnomAD |
|
|
CA358177400 rs1179350091 |
337 | R>* | No |
ClinGen gnomAD |
|
|
CA3078271 rs751963393 |
337 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1195269393 CA358177425 |
340 | S>R | No |
ClinGen TOPMed |
|
|
rs763845424 CA3078273 |
343 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105702697 rs1050607040 |
344 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1260500482 CA358177472 |
347 | N>T | No |
ClinGen gnomAD |
|
|
CA3078275 rs756763794 |
348 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1561278293 CA358177482 |
349 | E>K | No |
ClinGen Ensembl |
|
|
CA358177497 rs1276933515 |
351 | S>G | No |
ClinGen TOPMed |
|
|
CA358177509 rs1463428268 |
352 | I>S | No |
ClinGen gnomAD |
|
|
CA105702714 rs148150188 |
356 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1036325055 CA105702712 |
356 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745855659 CA3078277 |
356 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA358177543 rs1284806508 |
358 | R>G | No |
ClinGen gnomAD |
|
|
rs1343187050 CA358177546 |
358 | R>T | No |
ClinGen gnomAD |
|
|
CA358177551 COSM1051161 rs758314077 |
359 | G>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3078278 rs758314077 |
359 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561278673 CA358177567 |
361 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA358177569 rs1298079608 |
362 | T>A | No |
ClinGen TOPMed |
|
|
rs779908118 CA3078279 |
368 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746811252 COSM1195352 CA3078280 |
369 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs141990855 CA3078282 |
370 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA105702744 rs572478420 |
371 | P>S | No |
ClinGen gnomAD |
|
|
CA358177640 rs1271338014 |
372 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1050911364 CA105702745 |
373 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769807102 CA3078284 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA358177663 rs1392891194 |
376 | K>* | No |
ClinGen TOPMed |
|
|
rs1265840542 CA358177686 |
379 | H>Y | No |
ClinGen Ensembl |
|
|
rs201396511 CA105702750 |
382 | A>D | No |
ClinGen 1000Genomes |
|
|
rs1173355866 CA358177708 |
382 | A>T | No |
ClinGen gnomAD |
|
|
CA358177719 rs1433587479 |
384 | V>L | No |
ClinGen TOPMed |
|
|
CA3078287 rs767010650 |
387 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA358178756 rs1184794038 |
388 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358178767 rs1418733138 |
389 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1440040443 CA358178776 |
391 | S>T | No |
ClinGen gnomAD |
|
|
rs1445124526 CA358178781 |
392 | V>L | No |
ClinGen gnomAD |
|
|
rs1383205008 CA358178786 |
393 | P>T | No |
ClinGen gnomAD |
|
|
rs777803874 CA3078304 |
395 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3078305 rs749388462 |
398 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1287733094 CA358178832 |
399 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA358178829 rs1428055628 |
399 | Q>R | No |
ClinGen gnomAD |
|
|
CA3078306 rs771097117 |
400 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA3078309 rs183991017 |
401 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105705843 rs113468346 |
401 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs760887185 CA3078311 |
401 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078310 rs113468346 |
401 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3078312 rs765563350 |
403 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs750004205 CA3078313 |
405 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762471222 CA3078314 |
406 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3078315 rs765851683 |
408 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs1347936576 CA358178987 |
412 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3078316 rs751539205 |
412 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3078318 rs780907343 |
418 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3078317 rs754907904 |
418 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358179076 rs1185403364 |
419 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA105705878 rs1035069385 |
422 | I>T | No |
ClinGen TOPMed |
|
|
rs752551201 CA3078319 |
423 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1443785894 CA358179129 |
423 | G>R | No |
ClinGen gnomAD |
|
|
COSM1051163 CA3078321 rs778089602 |
424 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749476341 CA3078322 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078324 rs559945023 |
426 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1580696833 CA358179207 COSM3825177 |
429 | T>S | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1452393673 CA358179225 |
430 | D>G | No |
ClinGen gnomAD |
|
|
CA358179245 rs1280459101 |
431 | W>L | No |
ClinGen gnomAD |
|
|
CA3078328 rs775793486 |
432 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA358179252 rs775793486 |
432 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs972649435 CA105705917 |
433 | D>G | No |
ClinGen Ensembl |
|
|
CA358179289 rs1222329902 |
434 | N>K | No |
ClinGen gnomAD |
|
|
CA358179300 rs1283810187 |
435 | D>G | No |
ClinGen gnomAD |
|
|
rs1009260575 CA105705921 |
436 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1463343162 CA358179404 |
440 | I>T | No |
ClinGen TOPMed |
|
|
CA358179477 rs1460779299 |
444 | D>N | No |
ClinGen gnomAD |
|
|
CA3078329 rs376764980 |
446 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358179644 rs1173006126 |
452 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772965416 CA3078331 |
455 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs868597518 CA105705939 |
458 | V>M | No |
ClinGen TOPMed |
|
|
rs1201135135 CA358179822 |
461 | H>Y | No |
ClinGen TOPMed |
|
|
CA3078334 rs12508837 |
462 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12508837 CA358179862 |
462 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_034813 CA3078333 rs12508837 |
462 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA105705948 rs1025971205 |
462 | P>S | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758989972 CA3078335 |
466 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3078336 COSM1426990 rs767497573 |
466 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3078337 rs563937648 |
468 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs986596199 CA105705961 |
468 | G>S | No |
ClinGen Ensembl |
|
|
CA3078338 rs755964100 |
469 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358179986 rs1210862643 |
470 | H>R | No |
ClinGen TOPMed |
|
|
CA3078339 rs137863072 |
471 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs530543535 CA3078340 |
472 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358180028 rs757535546 |
473 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM480851 CA3078342 rs142360155 |
473 | R>P | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3078343 rs142360155 |
473 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3078341 rs757535546 |
473 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358180042 rs1196363965 |
474 | A>E | No |
ClinGen gnomAD |
|
|
CA105705984 rs868352605 |
474 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA105705993 rs774551960 |
476 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1435934683 CA358180079 |
477 | T>A | No |
ClinGen gnomAD |
|
|
rs780631689 CA3078345 |
477 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3078346 rs747451335 |
481 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1490726178 CA358180161 |
484 | I>T | No |
ClinGen gnomAD |
|
|
CA3078347 rs200585721 |
485 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358180173 rs1428046333 |
486 | D>V | No |
ClinGen gnomAD |
|
|
rs914213619 CA105706006 |
489 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA105706012 rs139863454 |
490 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA3078352 rs759119404 |
496 | W>R | No |
ClinGen ExAC |
|
|
rs766890960 CA3078353 |
498 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374132064 CA3078354 |
499 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 501 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228245751 CA358180350 |
502 | N>D | No |
ClinGen gnomAD |
|
|
rs1561310440 CA358180366 |
503 | K>R | No |
ClinGen Ensembl |
|
|
CA105706021 rs1056610513 |
504 | H>Q | No |
ClinGen TOPMed |
|
|
CA3078355 rs35810613 |
504 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78670309 CA105706033 |
505 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs78670309 CA105706030 |
505 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1378841409 CA358180424 |
507 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA358233126 rs1185842809 |
509 | Q>R | No |
ClinGen gnomAD |
|
|
rs1369678637 CA358233135 |
510 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358233141 rs368879586 |
511 | V>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368879586 CA105955509 |
511 | V>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1343171236 CA358233143 |
512 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358233176 rs1421697337 |
516 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3078417 rs766515993 |
518 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144539609 CA3078418 |
520 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561456568 CA358233202 |
520 | I>V | No |
ClinGen Ensembl |
|
|
CA105955510 rs1037388580 |
522 | K>E | No |
ClinGen gnomAD |
|
|
CA105955511 rs759925931 |
522 | K>T | No |
ClinGen Ensembl |
|
|
CA358233230 rs1581165787 |
524 | Q>E | No |
ClinGen Ensembl |
|
|
CA3078419 rs373597686 |
524 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358233251 rs1209891528 |
526 | E>D | No |
ClinGen TOPMed |
|
|
rs1341870496 CA358233248 |
526 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358233259 rs143788464 |
527 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1371198237 CA358233266 |
529 | T>A | No |
ClinGen gnomAD |
|
|
CA358233272 rs1304062170 |
530 | P>S | No |
ClinGen TOPMed |
|
|
rs753246881 CA3078421 |
533 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778190901 CA3078423 |
535 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs142656466 CA3078422 |
535 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285956936 CA358233325 |
538 | Q>E | No |
ClinGen TOPMed |
|
|
CA105955512 rs994435813 |
539 | E>G | No |
ClinGen Ensembl |
|
|
CA3078425 rs373439906 |
540 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA105955513 rs373439906 |
540 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358233349 rs1168199747 |
542 | V>I | No |
ClinGen gnomAD |
|
|
rs779592397 CA3078426 |
543 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3078427 rs746649446 |
545 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3078428 rs768319419 |
546 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780845254 CA3078429 |
546 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358233619 rs1228016543 |
551 | G>S | No |
ClinGen gnomAD |
|
|
rs1290266571 CA358233621 |
551 | G>V | No |
ClinGen TOPMed |
|
|
CA3078453 rs376045079 |
552 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774195259 CA3078454 |
553 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078455 rs746151062 |
555 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA105956980 rs527822685 |
557 | H>P | No |
ClinGen Ensembl |
|
|
rs772282804 CA3078456 |
559 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056801756 CA105956981 |
560 | K>R | No |
ClinGen Ensembl |
|
|
CA3078458 rs760763874 |
561 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs147644058 CA3078457 |
561 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA358233699 rs1160833821 |
562 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3078477 rs768684022 |
564 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932872909 CA105957128 |
566 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs72924443 CA3078479 |
570 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429403458 CA358233755 |
570 | K>T | No |
ClinGen gnomAD |
|
|
rs1251296096 CA358233767 |
572 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 572 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180512637 CA358233803 |
577 | I>V | No |
ClinGen TOPMed |
|
|
CA105957129 rs112072554 |
579 | S>L | No |
ClinGen Ensembl |
|
|
CA105957130 rs1041255360 |
580 | A>G | No |
ClinGen gnomAD |
|
|
CA358233824 rs1041255360 |
580 | A>V | No |
ClinGen gnomAD |
|
|
CA358233825 rs1423671356 |
581 | A>T | No |
ClinGen gnomAD |
|
|
CA358233829 rs1414310211 |
581 | A>V | No |
ClinGen gnomAD |
|
|
CA3078480 rs116056522 |
582 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3078481 rs773816879 |
583 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA105957131 rs1004635782 |
584 | H>Y | No |
ClinGen TOPMed |
|
|
rs1408258686 CA358233855 |
585 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA105957133 rs766830667 |
587 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766830667 CA3078483 |
587 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581337245 CA358233872 |
588 | T>I | No |
ClinGen Ensembl |
|
|
rs1328070030 CA358233877 |
589 | A>E | No |
ClinGen TOPMed |
|
|
CA358233879 rs1328070030 |
589 | A>V | No |
ClinGen TOPMed |
|
|
CA105957134 rs1022839028 |
591 | P>A | No |
ClinGen TOPMed |
|
|
rs1273063801 CA358233889 |
591 | P>R | No |
ClinGen gnomAD |
|
|
rs1302042994 CA358233907 |
594 | P>S | No |
ClinGen TOPMed |
|
|
rs1274889470 CA358233923 |
596 | I>M | No |
ClinGen gnomAD |
|
|
rs763574470 CA3078486 |
596 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA358233927 rs1339743855 |
597 | H>R | No |
ClinGen gnomAD |
|
|
CA105957135 rs905701174 |
598 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753405850 CA3078487 |
599 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA358233939 rs1360773055 |
599 | T>S | No |
ClinGen TOPMed |
|
|
CA105957136 rs1002751049 |
600 | R>G | No |
ClinGen TOPMed |
|
|
CA358233943 rs1196107386 |
600 | R>K | No |
ClinGen gnomAD |
|
|
rs1245525521 CA358233951 |
601 | T>I | No |
ClinGen gnomAD |
|
|
rs147888193 CA3078490 |
603 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358233969 rs1392433864 |
604 | T>A | No |
ClinGen gnomAD |
|
|
CA358233979 rs779818309 |
606 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078492 rs779818309 |
606 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369019229 CA3078493 COSM282364 |
606 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA3078494 rs768935180 |
607 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358233988 rs1561505963 |
608 | P>S | No |
ClinGen Ensembl |
|
|
rs781204216 CA3078495 |
609 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs141635653 CA3078496 |
609 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358234007 rs1181571696 |
611 | Q>K | No |
ClinGen TOPMed |
|
|
CA358234017 rs1431417598 |
612 | D>G | No |
ClinGen gnomAD |
|
|
CA358234025 rs1482570058 |
613 | P>R | No |
ClinGen TOPMed |
|
|
CA358234031 rs1239670041 |
614 | N>S | No |
ClinGen TOPMed |
|
|
rs1271797994 CA358234036 |
615 | K>E | No |
ClinGen gnomAD |
|
|
CA105957137 rs1021354385 |
617 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3078498 rs773906860 |
620 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1286528470 CA358234077 |
621 | P>A | No |
ClinGen gnomAD |
|
|
rs1286528470 CA358234078 |
621 | P>S | No |
ClinGen gnomAD |
|
|
rs763524646 COSM1051167 CA3078499 |
622 | V>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774847006 CA3078501 |
624 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA358234100 rs1265670446 |
625 | E>K | No |
ClinGen TOPMed |
|
|
rs373053632 CA3078502 |
626 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3078504 rs377064385 |
628 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078503 rs377064385 |
628 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078506 rs138255092 |
629 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358234126 rs1250441718 |
629 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3078507 CA358234136 rs114551546 |
630 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105957140 rs1024188102 |
630 | D>Y | No |
ClinGen gnomAD |
|
|
rs1156360674 CA358234185 |
636 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1337248752 CA358234215 |
640 | R>K | No |
ClinGen gnomAD |
|
|
rs772721386 CA358234220 |
641 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078526 rs772721386 |
641 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762381551 CA3078527 |
642 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766334979 CA3078528 |
643 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs149195038 CA3078529 |
644 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358234247 rs1463526597 |
645 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1229738605 CA358234249 |
645 | P>H | No |
ClinGen gnomAD |
|
|
CA358234248 rs1463526597 |
645 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 646 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360833242 CA358234308 |
654 | V>I | No |
ClinGen TOPMed |
|
|
rs1033676088 CA105957218 |
656 | D>Y | No |
ClinGen Ensembl |
|
|
rs1274605345 CA358234349 |
659 | D>E | No |
ClinGen TOPMed |
|
|
rs1327810175 CA358234345 |
659 | D>Y | No |
ClinGen gnomAD |
|
|
CA3078530 rs754852339 |
660 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_034814 CA3078531 rs12645577 |
660 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756393702 CA3078533 |
661 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3078534 rs778086183 |
662 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs913423507 CA105957219 |
663 | G>E | No |
ClinGen gnomAD |
|
|
rs749386817 CA358234374 |
664 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749386817 CA3078535 |
664 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757375861 CA3078536 |
665 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3078537 rs779520116 |
667 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752436357 CA3078551 |
669 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358234423 rs1175486873 |
671 | N>D | No |
ClinGen TOPMed |
|
|
CA105959133 rs17855761 |
671 | N>S | No |
ClinGen Ensembl |
|
|
CA3078552 rs374238188 |
672 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370327113 CA105959135 |
672 | A>S | No |
ClinGen 1000Genomes ESP gnomAD |
|
|
CA105959134 rs370327113 |
672 | A>T | No |
ClinGen 1000Genomes ESP gnomAD |
|
|
CA3078553 rs374238188 |
672 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA105959136 rs1045419567 |
673 | S>L | No |
ClinGen TOPMed |
|
|
CA358234441 rs1424796307 |
674 | P>L | No |
ClinGen gnomAD |
|
|
CA3078556 rs367618443 |
678 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1364821757 CA358234469 |
679 | P>S | No |
ClinGen gnomAD |
|
|
CA3078558 rs751008946 |
683 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3078559 rs758835917 |
683 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 684 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341685109 CA358234512 |
686 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs371552009 CA3078561 |
686 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3078563 rs149698527 |
687 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358234520 rs1487511942 |
687 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA105959137 rs1052390200 |
689 | H>Y | No |
ClinGen TOPMed |
|
|
rs1233209485 CA358234554 |
692 | P>L | No |
ClinGen gnomAD |
|
|
rs748916424 CA3078564 |
693 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358234564 rs1311211208 |
694 | F>L | No |
ClinGen TOPMed |
|
|
CA3078565 rs770530414 |
694 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1447193635 CA358234574 |
695 | Q>L | No |
ClinGen TOPMed |
|
|
rs773727610 CA3078568 |
697 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA105959139 rs1004387103 |
698 | S>F | No |
ClinGen gnomAD |
|
|
rs1456967293 CA358234600 |
699 | H>L | No |
ClinGen gnomAD |
|
|
CA358234598 rs1456967293 |
699 | H>P | No |
ClinGen gnomAD |
|
|
rs1456967293 CA358234599 |
699 | H>R | No |
ClinGen gnomAD |
|
|
rs759016994 CA3078569 |
703 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078570 rs771913642 |
706 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA358234657 rs1295902576 |
707 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3078572 rs760573182 |
708 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078575 rs762124964 |
710 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs750162387 CA3078576 |
714 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA358234705 rs750162387 |
714 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3078577 rs201885302 |
716 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150749510 CA3078578 |
716 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780457405 CA3078579 COSM350965 |
717 | R>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA358234721 rs780457405 |
717 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078580 rs376946304 |
717 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1411164561 CA358234750 |
721 | S>R | No |
ClinGen gnomAD |
|
|
rs1286678791 CA358234773 |
723 | R>K | No |
ClinGen gnomAD |
|
|
CA3078588 rs775622347 |
725 | R>C | Variant assessed as Somatic; 5.35e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM245403 rs760679370 CA3078589 |
725 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3078590 rs528821447 |
726 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776574417 CA3078591 |
728 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200268921 CA3078592 |
729 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078593 rs765401967 |
730 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 733 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078594 rs750619704 |
733 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358234861 rs1445679268 |
736 | T>N | No |
ClinGen TOPMed |
|
|
rs1471285781 CA358234858 |
736 | T>P | No |
ClinGen gnomAD |
|
|
CA3078596 rs766424768 |
737 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3078599 rs149932242 |
739 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149932242 CA358234878 |
739 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753196849 CA3078600 |
739 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA105959228 rs1053949432 |
741 | W>* | No |
ClinGen TOPMed |
|
|
rs1308799299 CA358234905 |
743 | F>L | No |
ClinGen gnomAD |
|
|
CA358234911 rs1352478787 |
743 | F>L | No |
ClinGen gnomAD |
|
|
CA358234938 rs1287705381 |
747 | D>E | No |
ClinGen gnomAD |
|
|
CA3078603 rs778457171 |
747 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3078602 rs778457171 |
747 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs371480626 CA3078604 |
748 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779710369 CA358234946 |
749 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779710369 CA3078605 |
749 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276270299 CA358234957 |
750 | N>S | No |
ClinGen gnomAD |
|
| rs1311334991 | 753 | M>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746456546 CA3078606 |
753 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 753 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 753 | M>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358234992 rs1578676241 |
754 | Y>* | No |
ClinGen Ensembl |
|
|
CA358234989 rs1276324256 |
754 | Y>C | No |
ClinGen gnomAD |
|
|
CA3078607 rs768731385 |
755 | E>* | No |
ClinGen ExAC |
|
|
rs1236947731 CA358235013 |
757 | F>C | No |
ClinGen TOPMed |
|
|
CA358235033 rs1437008783 |
760 | L>F | No |
ClinGen gnomAD |
|
|
rs1561559723 CA358235035 |
760 | L>R | No |
ClinGen Ensembl |
|
|
CA358235066 CA358235067 rs375901571 |
764 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3078610 rs147205423 |
766 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3078611 rs140602523 |
767 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763223317 CA3078612 |
770 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3078629 rs754498426 |
771 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1488943810 CA358235333 |
775 | C>F | No |
ClinGen TOPMed |
|
|
rs748095996 CA3078631 |
775 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1291677462 CA358235348 |
777 | F>V | No |
ClinGen TOPMed |
|
|
CA3078633 rs191978886 |
782 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358235418 rs1360977182 |
782 | Y>S | No |
ClinGen TOPMed |
|
|
CA3078634 rs748968127 |
783 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358235431 rs1290455091 |
783 | G>E | No |
ClinGen TOPMed |
|
|
CA105959822 rs920479216 |
785 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771152910 CA3078636 |
785 | E>K | No |
ClinGen ExAC |
|
| rs758463950 | 787 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358235478 rs1301228873 |
787 | K>N | No |
ClinGen TOPMed |
|
|
CA3078637 rs774506140 |
790 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs759640074 CA3078638 |
790 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078639 rs767549838 |
791 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1227222697 CA358235529 |
792 | I>S | No |
ClinGen gnomAD |
|
|
COSM732616 rs200140211 CA3078640 |
792 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 793 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284423197 CA358235561 |
795 | D>H | No |
ClinGen gnomAD |
|
|
rs761243032 CA3078641 |
797 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761243032 CA3078642 |
797 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358235631 rs1288398941 |
801 | K>E | No |
ClinGen gnomAD |
|
|
rs997616176 CA105959824 |
801 | K>R | No |
ClinGen Ensembl |
|
|
rs1468453705 CA358235648 |
802 | K>R | No |
ClinGen gnomAD |
|
|
rs1250304166 CA358235655 |
803 | D>H | No |
ClinGen gnomAD |
|
|
rs754245693 CA3078643 |
803 | D>V | No |
ClinGen ExAC |
|
|
rs762222898 CA3078644 |
804 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369255782 CA358235680 |
805 | E>K | Variant assessed as Somatic; 4.673e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3078663 rs769231394 |
808 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA358235769 rs769231394 |
808 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1253537444 CA358235780 |
809 | L>P | No |
ClinGen gnomAD |
|
|
rs762310782 CA3078665 |
810 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA358235790 rs1409636134 |
810 | Y>C | No |
ClinGen gnomAD |
|
|
CA3078664 rs776964521 |
810 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA358235842 rs751315718 |
814 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 815 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078668 rs759256290 |
816 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105959882 rs1001010791 |
821 | Y>* | No |
ClinGen TOPMed |
|
|
CA3078670 rs752263112 |
822 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3078671 rs755529195 |
823 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105959883 rs755529195 |
823 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358235924 rs1334472675 |
823 | Q>R | No |
ClinGen gnomAD |
|
|
COSM480852 CA3078672 rs777794190 |
825 | K>E | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 826 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358235963 rs1176818508 |
827 | Q>* | No |
ClinGen TOPMed |
|
|
rs1347504015 CA358235968 |
827 | Q>R | No |
ClinGen gnomAD |
|
|
CA3078674 rs757089245 |
828 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs778662741 CA3078675 |
829 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195962404 CA358236014 |
831 | P>R | No |
ClinGen gnomAD |
|
|
rs1239005557 CA786946410 |
832 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 833 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078676 rs745599581 |
834 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1199418425 CA358236092 |
838 | C>R | No |
ClinGen gnomAD |
|
|
CA3078678 rs780092717 |
841 | K>Q | No |
ClinGen ExAC |
|
|
rs747146600 CA3078679 |
842 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1370764850 CA358236183 |
845 | D>E | No |
ClinGen gnomAD |
|
|
CA358236190 rs1431142599 |
846 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1695006 CA358236203 rs1395078070 |
847 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs777245572 CA3078682 |
847 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3078683 rs762396730 |
848 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA358236226 rs1232526778 |
849 | D>E | No |
ClinGen gnomAD |
|
|
COSM1051172 rs770348827 CA3078684 |
849 | D>G | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1487687852 CA358236755 |
850 | P>L | No |
ClinGen TOPMed |
|
|
CA358236751 rs1166262237 |
850 | P>S | No |
ClinGen gnomAD |
|
|
rs1457959954 CA358236777 |
854 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 855 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757193891 CA3078692 |
855 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 855 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3078694 rs750243446 |
856 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs765105151 CA3078693 |
856 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3078695 rs758091885 |
857 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747177826 CA3078698 |
863 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747177826 CA358236842 |
863 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780364241 CA3078697 |
863 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA358236853 rs1578809179 |
865 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 865 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358236880 rs1267190148 |
869 | S>N | No |
ClinGen gnomAD |
|
|
CA3078700 rs781417699 |
870 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3078701 rs748171542 |
871 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358236893 rs748171542 |
871 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56129468 CA3078702 |
871 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358236908 rs1260586969 |
873 | R>I | No |
ClinGen gnomAD |
|
|
rs1366152954 CA358236914 |
874 | L>P | No |
ClinGen gnomAD |
|
|
rs148933955 CA3078705 |
874 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775255050 CA3078706 |
876 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA3078707 rs775255050 |
876 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164753942 CA358236937 |
878 | S>Y | No |
ClinGen gnomAD |
|
|
rs763723364 CA3078708 |
879 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078709 rs776135903 |
880 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358236962 rs1345999761 |
882 | P>L | No |
ClinGen TOPMed |
|
|
CA3078710 rs761268737 |
882 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3078711 rs765192874 |
884 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142851814 CA3078712 |
886 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3078713 rs758264197 |
888 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766076015 CA3078714 |
889 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA105960129 rs914468052 |
890 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3078715 rs751875392 |
892 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213351867 CA358237039 |
895 | Q>* | No |
ClinGen gnomAD |
|
|
rs1428408487 CA358237045 |
896 | V>I | No |
ClinGen TOPMed |
|
|
rs141017872 CA3078716 |
897 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150244092 CA3078718 |
900 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3078719 rs146859439 |
901 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358237081 rs1187941127 |
902 | R>G | No |
ClinGen gnomAD |
|
|
rs778461820 CA3078720 |
902 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3078722 rs370066627 |
904 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3078723 rs779136300 |
907 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3078724 rs530846819 |
908 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1312489001 CA358237144 |
911 | D>G | No |
ClinGen gnomAD |
|
|
rs866342787 CA105960132 |
913 | S>L | No |
ClinGen Ensembl |
|
|
rs371081191 CA3078726 |
914 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q659C4
4 regional properties for Q659C4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | LARP1-like, DM15 repeat | 706 - 747 | IPR006607-1 |
| repeat | LARP1-like, DM15 repeat | 748 - 786 | IPR006607-2 |
| repeat | LARP1-like, DM15 repeat | 787 - 822 | IPR006607-3 |
| domain | La-type HTH domain | 209 - 299 | IPR006630 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4G0J3 | LARP7 | La-related protein 7 | Homo sapiens (Human) | PR |
| P05455 | SSB | Lupus La protein | Homo sapiens (Human) | PR |
| Q71RC2 | LARP4 | La-related protein 4 | Homo sapiens (Human) | PR |
| Q6PKG0 | LARP1 | La-related protein 1 | Homo sapiens (Human) | PR |
| Q6ZQ58 | Larp1 | La-related protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MENWPTPSEL | VNTGFQSVLS | QGNKKPQNRK | EKEEKVEKRS | NSDSKENRET | KLNGPGENVS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDEAQSSNQR | KRANKHKWVP | LHLDVVRSES | QERPGSRNSS | RCQPEANKPT | HNNRRNDTRS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WKRDREKRDD | QDDVSSVRSE | GGNIRGSFRG | RGRGRGRGRG | RGRGNPRLNF | DYSYGYQEHG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERTDQPFQTE | LNTSMMYYYD | DGTGVQVYPV | EEALLKEYIK | RQIEYYFSVE | NLERDFFLRG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KMDEQGFLPI | SLIAGFQRVQ | ALTTNLNLIL | EALKDSTEVE | IVDEKMRKKI | EPEKWPIPGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPRSVPPTDF | SQLIDCPEFV | PGQAFCSHTE | SAPNSPRIGS | PLSPKKNSET | SILQAMSRGL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STSLPDLDSE | PWIEVKKRHQ | PAPVKLRESV | SVPEGSLNQL | CSSEEPEQEE | LDFLFDEEIE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QIGRKNTFTD | WSDNDSDYEI | DDQDLNKILI | VTQTPPYVKK | HPGGDRTGTH | MSRAKITSEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AKVINDGLYY | YEQDLWMEED | ENKHTAIKQE | VENFKKLNLI | SKEQFENLTP | ELPFEPNQEV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PVAPSQSRQG | GVQGVLHIPK | KDLTDELAQK | LFDVSEITSA | AMVHSLPTAV | PESPRIHPTR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TPKTPRTPRL | QDPNKTPRFY | PVVKEPKAID | VKSPRKRKTR | HSTNPPLECH | VGWVMDSRDR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GPGTSSVSTS | NASPSEGAPL | AGSYGCTPHS | FPKFQHPSHE | LLKENGFTQQ | VYHKYRRRCL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SERKRLGIGQ | SQEMNTLFRF | WSFFLRDHFN | KKMYEEFRQL | AWEDAKENYR | YGLECLFRFY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SYGLEKKFRR | EIFQDFQEET | KKDYESGQLY | GLEKFWAYLK | YSQSKTQSID | PKLQEYLCSF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KRLEDFRVDP | PISDEFGRKR | HSSTSGEESN | RHRLPPNSST | KPPNAAKPTS | TSELQVPINS |
| 910 | |||||
| PRRNISPESS | DNSH |