A0AV96
PR
Gene name |
RBM47 |
Protein name |
RNA-binding protein 47 |
Names |
RNA-binding motif protein 47 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54502 |
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
2 structures for A0AV96
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DIS | NMR | - | A | 150-245 | PDB |
| AF-A0AV96-F1 | Predicted | AlphaFoldDB |
490 variants for A0AV96
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA356718091 rs1577631622 |
2 | T>P | No |
ClinGen Ensembl |
|
|
CA356718069 rs1351587166 |
3 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356718070 rs1351587166 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1577631559 CA356717963 |
6 | S>P | No |
ClinGen Ensembl |
|
|
rs1409106770 CA356717915 |
7 | T>I | No |
ClinGen gnomAD |
|
|
rs1577631545 CA356717932 |
7 | T>P | No |
ClinGen Ensembl |
|
|
rs747158030 CA2898656 |
8 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA95767215 rs374600432 |
10 | M>I | No |
ClinGen Ensembl |
|
|
rs1049259386 CA95767217 |
10 | M>T | No |
ClinGen TOPMed |
|
|
rs374783323 CA95767220 |
10 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356717732 rs1479925289 |
12 | S>R | No |
ClinGen TOPMed |
|
|
CA2898652 rs571136106 |
15 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2898651 rs754534615 |
15 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779921202 CA2898649 |
16 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs779921202 CA356717607 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356717597 rs1277216226 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs749970256 CA2898647 |
17 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749970256 CA95767184 |
17 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767499189 CA95767183 |
18 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767499189 CA2898646 |
18 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356717472 rs751264199 |
21 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA356717446 rs763928721 |
22 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2898642 rs763928721 |
22 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2898641 rs762698277 |
23 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356717365 rs1432459776 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs1017279074 CA95767154 |
25 | G>D | No |
ClinGen Ensembl |
|
|
CA356717346 rs1374513119 |
25 | G>S | No |
ClinGen gnomAD |
|
|
CA356717324 rs766644209 |
26 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898639 rs766644209 |
26 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903550738 CA95767152 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773284491 CA95767145 |
29 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356717266 rs1470836358 |
29 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1470836358 CA356717273 |
29 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773284491 CA2898637 |
29 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1485567989 CA356717248 |
30 | P>R | No |
ClinGen gnomAD |
|
|
CA356717243 rs1281247853 |
31 | N>H | No |
ClinGen gnomAD |
|
|
CA2898633 rs769063588 |
32 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898634 rs769063588 |
32 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356717200 rs923646006 |
33 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA95767114 rs923646006 |
33 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1387495250 CA356717117 |
37 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1289944697 CA356717080 |
39 | M>T | No |
ClinGen gnomAD |
|
|
rs896371394 CA95767104 |
41 | R>C | No |
ClinGen gnomAD |
|
|
COSM3409299 rs371872185 CA2898631 COSM3409301 |
41 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA356717026 rs371872185 |
41 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898628 rs201391084 |
43 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990683674 CA95767077 |
44 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 44 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868820729 CA95767069 |
46 | M>I | No |
ClinGen Ensembl |
|
|
CA2898626 rs751486157 |
46 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA356716854 rs1172579473 |
47 | V>L | No |
ClinGen gnomAD |
|
|
rs866199829 CA95767067 |
51 | G>E | No |
ClinGen gnomAD |
|
|
rs777636369 CA2898625 |
51 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1291905 COSM1291906 rs777636369 CA356716736 |
51 | G>W | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258660977 CA356716683 |
53 | R>C | No |
ClinGen gnomAD |
|
|
rs375207125 CA95767066 |
54 | K>T | No |
ClinGen ESP |
|
|
rs1485050814 CA356716576 |
57 | G>D | No |
ClinGen gnomAD |
|
|
rs1187090287 CA356716581 |
57 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2898623 rs752448364 |
59 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1331351398 CA356716534 |
59 | P>L | No |
ClinGen gnomAD |
|
|
rs1401814559 CA356716477 |
61 | G>D | No |
ClinGen Ensembl |
|
|
COSM1186556 CA2898620 COSM1186554 rs750450057 |
61 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356716454 rs1288107247 |
62 | W>C | No |
ClinGen TOPMed |
|
|
CA2898617 rs149702673 |
65 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356716382 rs149702673 |
65 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149702673 CA2898618 |
65 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898619 rs767559865 |
65 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356716342 rs1287749652 |
67 | P>L | No |
ClinGen gnomAD |
|
|
CA2898615 rs763314452 |
69 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA95766977 rs866676465 |
70 | G>D | No |
ClinGen Ensembl |
|
|
CA2898613 rs769522622 |
70 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745494783 CA2898612 |
75 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA356716149 rs1167415315 |
76 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781033383 COSM233241 COSM233242 CA2898611 |
79 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1317165997 CA356716080 |
80 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs568605513 CA2898610 |
80 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356716035 rs866292044 |
82 | V>L | No |
ClinGen gnomAD |
|
|
rs866292044 CA95766968 |
82 | V>M | No |
ClinGen gnomAD |
|
|
CA2898608 rs777706425 |
83 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs752449513 CA2898606 |
85 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1276411416 CA356715973 |
85 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356715935 rs754813778 CA2898604 |
86 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778697716 CA2898605 |
86 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140786630 CA2898600 |
90 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767176872 CA95766953 |
92 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2898597 rs776189003 |
94 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1637719 COSM1637718 CA2898598 rs776189003 |
94 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system bone [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 95 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898596 rs770253008 |
96 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898595 rs150976989 |
96 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776407058 CA2898594 |
97 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356715685 rs1451634005 |
99 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 104 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356715444 rs1205981888 |
107 | D>E | No |
ClinGen TOPMed |
|
|
CA2898588 rs778859052 |
108 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748051934 CA356715443 |
108 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs748051934 CA2898589 |
108 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748051934 CA2898590 |
108 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1479498250 CA356715327 |
111 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 111 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762027170 CA2898585 |
114 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1303974197 CA356715174 |
116 | V>I | No |
ClinGen gnomAD |
|
|
CA356715115 rs1396215895 |
117 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356715137 rs1390170460 |
117 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201369574 CA2898583 |
119 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898582 rs62639979 |
120 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200361040 CA2898581 |
122 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752916231 CA95766828 |
124 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 126 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201192048 CA2898579 COSM1567337 COSM1567336 |
126 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs759920828 CA2898578 |
126 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA356714860 rs1468007536 |
127 | A>S | No |
ClinGen TOPMed |
|
|
rs1330868070 CA356714833 |
128 | V>M | No |
ClinGen TOPMed |
|
|
CA356714816 rs1417308208 |
129 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373211767 CA2898577 |
129 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356714791 rs1429563979 |
130 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771451464 CA2898573 CA356714733 |
132 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2898574 rs772967013 |
132 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356714719 rs1345017177 |
133 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898571 rs763012640 |
134 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3825840 COSM3825842 rs971545860 CA95766764 |
135 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA95766762 rs1014955331 |
137 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2898570 rs774218691 |
138 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2898568 rs749043363 |
140 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1415327437 CA356714570 |
140 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778126567 CA2898564 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778126567 CA356714507 COSM2847115 COSM2847116 |
144 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 145 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758541733 CA2898563 |
146 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA356714338 rs1473414876 |
148 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1056357296 CA95766746 |
151 | C>S | No |
ClinGen Ensembl |
|
|
rs1186393377 CA356714222 |
152 | R>H | No |
ClinGen gnomAD |
|
|
CA356714126 rs1231195252 |
155 | I>T | No |
ClinGen TOPMed |
|
|
CA2898559 rs754178245 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2898558 rs766630382 |
156 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs996457571 COSM3603711 COSM3603709 CA95766715 |
157 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs772734253 CA356714073 |
158 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2898556 rs772734253 |
158 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA95766705 rs937899835 |
161 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356713987 COSM1663865 COSM1663864 rs1577628748 |
161 | M>T | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356713883 rs1560361403 |
164 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA95766703 rs868711273 |
166 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1485940960 CA356712706 |
171 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1316534519 CA356712699 |
171 | I>T | No |
ClinGen gnomAD |
|
|
rs773883905 CA2898553 |
172 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898548 COSM3775841 rs745735810 COSM3775839 |
176 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs374159101 CA2898547 |
177 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1162486034 CA356712526 |
177 | G>R | No |
ClinGen gnomAD |
|
|
CA95766656 rs942126834 |
179 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2898546 rs772424792 |
180 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA356712456 rs1560361184 |
182 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 182 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211110382 CA356712394 |
186 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 186 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754268660 CA356712384 |
187 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3409295 rs754268660 CA2898542 COSM3409293 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356712366 rs1358930690 |
188 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA356712355 rs1226966310 |
189 | D>H | No |
ClinGen gnomAD |
|
|
CA356712356 rs1226966310 |
189 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356712293 rs1283044187 |
192 | K>Q | No |
ClinGen gnomAD |
|
|
rs1560360999 CA356712237 |
194 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1268453430 CA356712227 |
195 | G>S | No |
ClinGen TOPMed |
|
|
rs1414907196 CA356712141 |
199 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2898534 rs762595332 |
202 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356712053 rs1415711915 |
202 | E>Q | No |
ClinGen gnomAD |
|
|
CA356711973 rs1357887873 |
205 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs775278761 CA2898533 |
205 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553878373 CA356711952 |
206 | A>S | No |
ClinGen Ensembl |
|
|
CA2898532 rs769786377 |
206 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356711913 rs1387002271 |
209 | M>V | No |
ClinGen TOPMed |
|
|
CA356711883 rs1246584121 |
210 | A>T | No |
ClinGen gnomAD |
|
|
CA95766577 rs866820399 |
211 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs759184929 CA2898531 |
211 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1271413740 CA356711819 |
212 | R>H | No |
ClinGen gnomAD |
|
|
CA2898529 rs772368227 |
214 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM326341 rs748353610 COSM326342 CA2898528 |
218 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs976326670 CA95766533 |
219 | I>F | No |
ClinGen Ensembl |
|
|
CA2898527 rs779318304 |
221 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356711707 rs1437114666 |
223 | G>D | No |
ClinGen gnomAD |
|
|
CA2898526 rs749441013 |
223 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898525 rs749441013 |
223 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356711695 rs1351391975 |
225 | Q>E | No |
ClinGen gnomAD |
|
|
rs866383554 CA356711689 |
225 | Q>H | No |
ClinGen gnomAD |
|
|
CA356711680 rs1370745590 |
227 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356711672 rs1320722804 |
228 | V>A | No |
ClinGen TOPMed |
|
|
CA356711674 rs756676800 |
228 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756676800 CA2898523 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA356711648 rs1192273018 |
231 | A>V | No |
ClinGen gnomAD |
|
|
rs2291580 CA356711640 |
232 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1577627564 CA356711647 |
232 | E>K | No |
ClinGen Ensembl |
|
|
CA95766510 rs1020681888 |
235 | I>M | No |
ClinGen Ensembl |
|
|
CA95766514 rs968207681 |
235 | I>T | No |
ClinGen TOPMed |
|
|
rs751213817 CA2898519 |
235 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898518 rs763797532 |
236 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752259025 CA2898516 |
237 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759536796 CA2898515 |
238 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311610072 CA356711581 |
238 | D>N | No |
ClinGen gnomAD |
|
|
CA356711556 rs1219713637 |
239 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs202171304 CA2898513 |
241 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356711487 rs1286411164 |
244 | T>A | No |
ClinGen gnomAD |
|
|
CA2898510 rs181288522 |
249 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1358061944 CA356711406 |
250 | V>M | No |
ClinGen gnomAD |
|
|
COSM1670958 COSM1670959 rs1176222941 CA356711391 |
251 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA95766476 rs908346110 |
253 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375531389 CA2898509 |
254 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356711363 rs1406376190 |
254 | M>V | No |
ClinGen gnomAD |
|
|
CA356711337 rs1373064387 |
256 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs749258342 CA2898508 |
260 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1186071519 CA356711284 |
260 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1238093269 CA356711269 |
261 | T>A | No |
ClinGen gnomAD |
|
|
CA95766464 rs1034666711 |
262 | I>M | No |
ClinGen Ensembl |
|
|
CA356711219 rs1212280609 |
264 | K>T | No |
ClinGen gnomAD |
|
|
CA95766461 rs1002162120 |
265 | S>R | No |
ClinGen Ensembl |
|
|
CA2898507 rs775664182 |
266 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1290040354 CA356711148 |
269 | F>L | No |
ClinGen gnomAD |
|
|
CA356711153 rs1329593986 |
269 | F>Y | No |
ClinGen gnomAD |
|
|
CA2898504 rs781752324 |
271 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781752324 CA95766442 |
271 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005365821 CA95766430 |
272 | G>D | No |
ClinGen gnomAD |
|
|
CA2898503 rs757608576 |
272 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA356711093 rs1342941039 |
274 | V>L | No |
ClinGen gnomAD |
|
|
CA356711070 rs1158990104 |
276 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2898502 rs747390984 |
277 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA95766415 rs1009115050 |
278 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA95766411 rs867540653 |
281 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs867540653 CA356710984 |
281 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356710959 rs1414739744 |
282 | D>A | No |
ClinGen gnomAD |
|
|
rs1423625557 CA356710964 |
282 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356710882 rs140041430 |
285 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898497 rs753822591 |
288 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898498 rs764778872 |
288 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898494 rs760487136 |
289 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2898495 rs766481994 |
289 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356710792 rs1264716852 |
292 | E>K | No |
ClinGen TOPMed |
|
|
CA95766392 rs546878565 |
296 | H>N | No |
ClinGen Ensembl |
|
|
CA2898490 rs775615795 |
296 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2898489 rs769913096 CA356710735 |
298 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA356710705 rs1182951544 |
299 | N>S | No |
ClinGen TOPMed |
|
|
rs746009527 CA2898488 |
300 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA356710649 rs771435022 |
302 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2898487 rs777068193 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356710647 rs1292312499 |
303 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1457668219 CA356710624 |
304 | T>A | No |
ClinGen gnomAD |
|
|
rs1350835399 CA356710612 |
304 | T>S | No |
ClinGen gnomAD |
|
|
rs1457668219 CA356710618 |
304 | T>S | No |
ClinGen gnomAD |
|
|
rs866434214 CA95766385 |
305 | E>K | No |
ClinGen gnomAD |
|
|
rs866434214 CA356710592 |
305 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356710549 rs1389603850 |
307 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189344985 CA356710531 |
308 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA95766377 COSM1055329 rs1047835662 COSM1055327 |
309 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA356710436 rs1157445835 |
310 | C>Y | No |
ClinGen TOPMed |
|
|
CA356710332 rs1285915728 |
314 | T>A | No |
ClinGen gnomAD |
|
|
CA356710322 rs1339682758 |
314 | T>M | No |
ClinGen gnomAD |
|
|
rs369435498 CA2898480 |
315 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA95766340 rs1010673719 |
322 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA95766342 rs1042555063 |
322 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs867491867 CA356710078 |
323 | Q>H | No |
ClinGen gnomAD |
|
|
rs373340273 CA2898476 |
326 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766350310 CA2898477 |
326 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA356709955 rs1226751385 |
329 | K>R | No |
ClinGen TOPMed |
|
|
CA2898473 rs761580769 |
331 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1393353778 CA356709885 |
332 | R>S | No |
ClinGen gnomAD |
|
|
CA2898471 rs765395807 |
334 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356709838 rs1463219194 |
335 | G>A | No |
ClinGen gnomAD |
|
|
CA356709847 rs1267760977 |
335 | G>S | No |
ClinGen gnomAD |
|
|
CA2898468 rs537345346 |
336 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA95766291 rs867036808 |
336 | A>S | No |
ClinGen gnomAD |
|
|
COSM1429684 rs867036808 CA356709824 COSM1429685 |
336 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA95766287 rs537345346 |
336 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898465 rs568598628 |
340 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568598628 CA2898464 |
340 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773627724 CA2898466 |
340 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs568598628 CA2898463 |
340 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356709672 rs548510924 |
343 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2898461 rs548510924 |
343 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779690131 CA2898460 |
345 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95766272 rs188519297 |
348 | S>F | No |
ClinGen 1000Genomes |
|
|
rs1172116267 CA356709522 |
350 | D>N | Variant assessed as Somatic; 9.25e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1378084435 CA356709497 |
351 | P>H | No |
ClinGen gnomAD |
|
|
CA356709496 rs1378084435 |
351 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898457 rs781050224 |
352 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2898456 rs757022586 |
354 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2898455 rs149580961 |
358 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA2898454 rs765461374 |
359 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA356709362 rs1182430932 |
361 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA95766262 rs979590727 |
362 | N>H | No |
ClinGen Ensembl |
|
|
CA356709308 rs1253420928 |
363 | A>V | No |
ClinGen gnomAD |
|
|
rs1345142500 CA356709274 |
365 | I>T | No |
ClinGen gnomAD |
|
|
CA356709253 rs1376449126 |
367 | P>R | No |
ClinGen TOPMed |
|
|
CA2898451 rs766412676 |
368 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA95766253 rs868218963 |
369 | R>K | No |
ClinGen Ensembl |
|
|
CA95766250 rs868218963 |
369 | R>M | No |
ClinGen Ensembl |
|
|
rs75023389 CA95766240 |
371 | Y>F | No |
ClinGen Ensembl |
|
|
rs760806959 CA2898450 |
371 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs987509159 CA95765813 |
376 | G>V | No |
ClinGen TOPMed |
|
|
CA95765810 rs945367569 |
377 | S>C | No |
ClinGen TOPMed |
|
|
CA356708785 rs1488997291 |
377 | S>N | No |
ClinGen TOPMed |
|
|
rs767471528 CA2898409 |
378 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750466664 CA2898410 |
378 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA95765804 rs913865177 |
380 | G>D | No |
ClinGen TOPMed |
|
|
CA95765790 rs757425914 |
381 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2898408 rs757425914 |
381 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752100792 CA2898407 |
381 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356708620 rs1419106472 |
382 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898405 rs763344046 |
383 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356708582 rs1167139655 |
385 | A>T | No |
ClinGen TOPMed |
|
|
CA2898404 rs776033149 |
387 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs367596379 CA2898402 |
388 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898401 rs776383311 |
389 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204023147 CA356708423 |
390 | A>D | No |
ClinGen gnomAD |
|
|
CA356708368 rs1171950800 |
393 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 394 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356708322 rs1425019407 |
396 | S>A | No |
ClinGen gnomAD |
|
|
rs772000894 CA2898397 |
399 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356708266 rs772000894 |
399 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356708221 rs1261978636 |
401 | Y>C | No |
ClinGen gnomAD |
|
|
rs1181718754 CA356708196 |
402 | S>Y | No |
ClinGen gnomAD |
|
|
rs747898032 CA2898396 |
403 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356708134 rs1208061068 |
405 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1208061068 CA356708140 |
405 | R>G | No |
ClinGen gnomAD |
|
|
rs768544332 CA2898394 |
405 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs563265448 CA2898393 |
406 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 407 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898391 rs757226162 |
409 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA356708011 rs1229722422 |
410 | R>Q | No |
ClinGen TOPMed |
|
|
rs199905725 CA2898389 |
412 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1445094997 CA356707935 |
414 | G>R | No |
ClinGen gnomAD |
|
|
rs1358079526 CA356707871 |
418 | Q>P | No |
ClinGen gnomAD |
|
|
CA356707857 rs1232987677 |
419 | Q>E | No |
ClinGen TOPMed |
|
|
CA2898387 rs574417456 |
423 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2898385 rs763065592 COSM215943 |
427 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766066272 CA2898383 |
428 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs200872426 CA2898380 |
434 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356707440 rs1425927902 |
438 | A>V | No |
ClinGen TOPMed |
|
|
rs768324144 CA2898377 |
439 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356707363 rs1414131782 |
441 | P>R | No |
ClinGen TOPMed |
|
|
CA356707347 rs1377794679 |
442 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898365 rs376009614 |
449 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898363 rs766983200 |
451 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898362 rs761371358 |
451 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898360 rs768644905 |
452 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2898361 rs367682142 |
452 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356704591 rs1165713205 |
453 | Y>C | No |
ClinGen gnomAD |
|
|
rs1191943172 CA356704602 |
453 | Y>H | No |
ClinGen gnomAD |
|
|
rs1428761196 CA356704555 |
454 | S>C | No |
ClinGen gnomAD |
|
|
rs762616700 CA2898359 |
454 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1389699224 CA356704534 |
455 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1429103498 CA356704478 |
457 | P>L | No |
ClinGen gnomAD |
|
|
CA2898358 rs775380404 |
459 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769528385 CA95764242 |
461 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898357 rs769528385 |
461 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356704409 rs1488048190 |
462 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356704280 rs868663629 |
468 | G>A | No |
ClinGen gnomAD |
|
|
COSM481265 COSM481263 CA95764239 rs868663629 |
468 | G>D | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 470 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898356 rs747206841 |
474 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2898355 rs763833959 |
476 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs535470903 CA2898354 |
477 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213688163 CA356704106 |
478 | S>R | No |
ClinGen TOPMed |
|
|
CA356704095 rs1299842507 |
479 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356704098 rs779218041 |
479 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779218041 CA2898352 |
479 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780441804 CA2898350 |
480 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780441804 CA2898349 |
480 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898351 rs371309796 |
480 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408299748 CA356704068 |
481 | A>P | No |
ClinGen gnomAD |
|
|
CA2898346 rs767171365 |
482 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750071734 CA2898347 |
482 | V>M | No |
ClinGen ExAC |
|
|
rs1168611758 CA356704043 |
483 | Q>* | No |
ClinGen gnomAD |
|
|
CA2898344 rs751114219 |
485 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs763890818 CA2898343 |
486 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2898340 rs775331815 |
490 | A>P | No |
ClinGen ExAC TOPMed |
|
|
rs773506304 CA2898336 |
492 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748134090 COSM163956 CA2898334 |
493 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1345318969 CA356703906 |
494 | A>T | No |
ClinGen TOPMed |
|
|
rs749771006 CA2898331 |
495 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95764193 rs938475554 |
495 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1560350268 CA356703874 |
496 | A>S | No |
ClinGen Ensembl |
|
|
rs1233241039 CA356703867 |
496 | A>V | No |
ClinGen gnomAD |
|
|
rs780492136 CA2898325 |
497 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356703858 rs1285642269 |
497 | A>V | No |
ClinGen gnomAD |
|
|
rs1226767510 CA356703838 |
498 | A>G | No |
ClinGen gnomAD |
|
|
rs1448044413 CA356703844 |
498 | A>S | No |
ClinGen TOPMed |
|
|
rs370564777 CA2898319 |
499 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756413413 CA356703827 |
499 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898320 rs756413413 |
499 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780785396 CA2898314 |
500 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756926169 CA2898313 |
500 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA95764156 rs200374378 |
502 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200374378 CA2898310 |
502 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201549023 CA2898304 |
503 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA356703734 rs1429692511 |
503 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356703667 rs1420344137 |
508 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM163958 rs146911971 CA2898299 |
509 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs762072583 CA2898297 |
510 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356703634 rs1207168601 |
511 | P>L | No |
ClinGen gnomAD |
|
|
CA2898296 rs779245534 |
514 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA356701580 rs1262199322 |
515 | G>D | No |
ClinGen TOPMed |
|
|
CA2898279 rs751791605 |
516 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2898278 rs764228416 |
516 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898275 rs769912008 |
518 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs142691111 CA2898276 |
518 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1182438105 CA356701494 |
519 | T>I | No |
ClinGen TOPMed |
|
|
CA356701486 rs1162552560 |
520 | P>T | No |
ClinGen gnomAD |
|
|
rs760007961 CA2898274 |
521 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA356701435 rs1167252360 |
522 | Y>F | No |
ClinGen gnomAD |
|
|
CA356701412 rs1243228425 |
523 | T>M | No |
ClinGen gnomAD |
|
|
CA356701359 rs1450247009 |
527 | N>D | No |
ClinGen gnomAD |
|
|
CA356701340 rs1268360612 |
528 | V>I | No |
ClinGen gnomAD |
|
|
rs182470135 CA2898271 |
533 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2898270 rs138621864 |
535 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898268 rs747609461 |
537 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356701147 rs747609461 |
537 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356701127 rs1349707262 COSM136409 |
538 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2898267 rs35529250 VAR_061832 CA2898266 |
538 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1349707262 CA356701128 |
538 | G>V | No |
ClinGen TOPMed |
|
|
CA356701112 rs1203145249 |
539 | A>D | No |
ClinGen TOPMed |
|
|
CA2898265 rs753820729 |
539 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780196978 CA2898264 |
540 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs200229582 CA2898262 |
542 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2898263 COSM1644169 rs200229582 COSM1644170 |
542 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1181477561 CA356700966 |
544 | F>S | No |
ClinGen Ensembl |
|
|
rs764328438 CA2898261 |
545 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1022161590 CA95761728 |
548 | A>V | No |
ClinGen TOPMed |
|
|
rs372574077 CA356700763 |
550 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2898258 rs765299158 |
550 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2898257 rs372574077 |
550 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA95761708 rs1057098176 |
551 | T>M | No |
ClinGen Ensembl |
|
|
CA2898256 rs766804204 |
552 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2898255 rs766804204 |
552 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356700690 rs1157164258 |
553 | A>D | No |
ClinGen TOPMed |
|
|
CA2898253 rs773468175 |
553 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356700593 rs1409011090 |
556 | Q>R | No |
ClinGen TOPMed |
|
|
rs772534722 CA2898252 |
558 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356700530 rs1470603849 |
558 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2898251 rs747770299 |
559 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560341385 CA356700481 |
559 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 560 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780001417 CA2898247 |
562 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356700373 rs1335393006 |
563 | A>G | No |
ClinGen TOPMed |
|
|
CA356700352 rs370242960 |
564 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2898244 rs370242960 |
564 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752905554 CA2898241 CA356700300 |
565 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356700319 rs278981 |
565 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs278981 VAR_054770 CA2898242 |
565 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1305808231 CA356700273 |
566 | Y>C | No |
ClinGen gnomAD |
|
|
CA2898239 rs754988782 |
567 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2898238 rs753946299 |
569 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA356700179 COSM3661090 rs1405768058 COSM3661088 |
570 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1560341120 CA356700085 |
572 | Y>C | No |
ClinGen Ensembl |
|
|
CA2898234 rs767766034 |
575 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95761652 rs777559788 |
576 | A>T | No |
ClinGen Ensembl |
|
|
rs1577580557 CA356699919 |
577 | F>S | No |
ClinGen Ensembl |
|
|
CA2898233 rs140354506 |
578 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774088378 CA356699878 |
580 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2898232 rs774088378 |
580 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768427522 CA2898231 |
580 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199931324 CA95761644 |
581 | A>T | No |
ClinGen 1000Genomes |
|
|
CA356699798 rs1439640900 |
583 | Q>H | No |
ClinGen gnomAD |
|
|
rs1480929995 CA356699795 |
584 | V>L | No |
ClinGen TOPMed |
|
|
CA2898230 rs761249478 |
585 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356699746 rs1203996462 |
588 | D>A | No |
ClinGen gnomAD |
|
|
CA356699740 rs1325427313 |
588 | D>E | No |
ClinGen gnomAD |
|
|
CA2898228 rs769388482 |
588 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2898226 rs781251500 |
589 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2898227 rs781251500 |
589 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756991432 CA2898225 |
591 | Q>R | No |
ClinGen ExAC |
|
|
CA356699653 rs1373402204 |
593 | Y>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356699616 rs1280822506 |
594 | Y>G | No |
ClinGen gnomAD |
No associated diseases with A0AV96
6 regional properties for A0AV96
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 71 - 145 | IPR000504-1 |
| domain | RNA recognition motif domain | 151 - 233 | IPR000504-2 |
| domain | RNA recognition motif domain | 246 - 318 | IPR000504-3 |
| domain | RNA-binding protein 47, RNA recognition motif 2 | 150 - 242 | IPR034440 |
| domain | RNA-binding protein 47, RNA recognition motif 3 | 245 - 318 | IPR034445 |
| domain | RNA-binding protein 47, RNA recognition motif 1 | 70 - 147 | IPR047044 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cytidine to uridine editing | The conversion of a cytosine residue to uridine in an RNA molecule by deamination. |
| hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96H35 | RBM18 | Probable RNA-binding protein 18 | Homo sapiens (Human) | PR |
| Q8TBY0 | RBM46 | Probable RNA-binding protein 46 | Homo sapiens (Human) | PR |
| P86049 | Rbm46 | Probable RNA-binding protein 46 | Mus musculus (Mouse) | PR |
| Q0P4R6 | rbm46 | Probable RNA-binding protein 46 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAEDSTAAM | SSDSAAGSSA | KVPEGVAGAP | NEAALLALME | RTGYSMVQEN | GQRKYGGPPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GWEGPHPQRG | CEVFVGKIPR | DVYEDELVPV | FEAVGRIYEL | RLMMDFDGKN | RGYAFVMYCH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KHEAKRAVRE | LNNYEIRPGR | LLGVCCSVDN | CRLFIGGIPK | MKKREEILEE | IAKVTEGVLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIVYASAADK | MKNRGFAFVE | YESHRAAAMA | RRKLMPGRIQ | LWGHQIAVDW | AEPEIDVDED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VMETVKILYV | RNLMIETTED | TIKKSFGQFN | PGCVERVKKI | RDYAFVHFTS | REDAVHAMNN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LNGTELEGSC | LEVTLAKPVD | KEQYSRYQKA | ARGGGAAEAA | QQPSYVYSCD | PYTLAYYGYP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YNALIGPNRD | YFVKAGSIRG | RGRGAAGNRA | PGPRGSYLGG | YSAGRGIYSR | YHEGKGKQQE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KGYELVPNLE | IPTVNPVAIK | PGTVAIPAIG | AQYSMFPAAP | APKMIEDGKI | HTVEHMISPI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVQPDPASAA | AAAAAAAAAA | AAVIPTVSTP | PPFQGRPITP | VYTVAPNVQR | IPTAGIYGAS |
| 550 | 560 | 570 | 580 | 590 | |
| YVPFAAPATA | TIATLQKNAA | AAAAMYGGYA | GYIPQAFPAA | AIQVPIPDVY | QTY |