Q9BXP5
PR
Gene name |
SRRT (ARS2, ASR2) |
Protein name |
Serrate RNA effector molecule homolog |
Names |
Arsenite-resistance protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51593 |
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
646 variants for Q9BXP5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765260706 CA4394991 |
3 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1230815038 CA368582928 |
5 | D>E | No |
ClinGen TOPMed |
|
|
CA368582997 rs1563008057 |
7 | E>D | No |
ClinGen Ensembl |
|
|
CA4394996 rs751465031 |
12 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350973947 CA368583195 |
14 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 21 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368583399 rs1280975775 |
23 | Y>H | No |
ClinGen gnomAD |
|
|
CA163279902 rs910963926 |
25 | R>H | No |
ClinGen TOPMed |
|
|
rs777162434 CA4395001 |
26 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368583479 rs777162434 |
26 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395003 rs770560275 |
27 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1322233238 CA368583515 |
28 | E>Q | No |
ClinGen gnomAD |
|
|
rs1244210244 CA368583639 |
33 | R>L | No |
ClinGen gnomAD |
|
|
CA368583656 rs1459108216 |
35 | G>V | No |
ClinGen gnomAD |
|
|
rs1199525842 CA368583660 |
36 | D>N | No |
ClinGen gnomAD |
|
|
rs1237730433 CA368583706 |
39 | N>D | No |
ClinGen gnomAD |
|
|
rs763989148 CA4395038 |
45 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753362499 CA4395039 |
45 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA368586161 rs1378118436 |
47 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778413443 CA4395041 |
47 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4395042 rs750016108 |
49 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368586204 rs1356545715 |
50 | R>C | No |
ClinGen TOPMed |
|
|
CA368586239 rs1359056291 |
52 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4395043 rs758048109 |
53 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308550778 CA368586278 |
54 | E>A | No |
ClinGen TOPMed |
|
|
rs1404200031 CA368586289 |
54 | E>D | No |
ClinGen TOPMed |
|
|
CA368586315 rs888741240 |
55 | Y>* | No |
ClinGen gnomAD |
|
|
CA368586326 rs1563014633 |
56 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1394984557 CA368586334 |
57 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781612570 CA4395044 |
60 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163284212 rs941779851 |
60 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA368586467 rs1180793197 |
62 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1180793197 CA368586464 |
62 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368586462 rs1180793197 |
62 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4395045 rs748518284 |
62 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 63 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368586479 rs1231145403 |
63 | R>Q | No |
ClinGen gnomAD |
|
|
CA4395046 rs564023894 |
65 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778183111 CA4395047 |
65 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368586552 rs1459881676 |
66 | F>L | No |
ClinGen gnomAD |
|
|
CA4395048 rs749843426 |
67 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446578799 CA368586592 |
69 | P>A | No |
ClinGen gnomAD |
|
|
rs539833960 CA4395052 |
70 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4395053 rs775337041 |
70 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163284271 rs9735 |
71 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763985780 CA163284284 CA4395055 |
72 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA368586729 rs1230907430 |
74 | S>T | No |
ClinGen gnomAD |
|
|
CA368586755 rs1288677919 |
75 | P>L | No |
ClinGen TOPMed |
|
|
CA368586796 rs1318130226 |
77 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768762753 CA4395058 |
79 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368586840 rs1443871777 |
79 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1443871777 CA368586845 |
79 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368586843 rs1443871777 |
79 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749999841 CA4395059 |
80 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs199587931 CA4395060 |
82 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 83 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149641563 CA163284304 |
83 | D>G | No |
ClinGen ESP TOPMed |
|
|
CA4395088 rs758364062 |
85 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs780200386 CA4395089 |
88 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA368587212 rs1226813759 |
89 | S>F | No |
ClinGen gnomAD |
|
|
CA4395090 rs747130381 |
90 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768986033 CA4395091 |
91 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393671668 CA368587240 |
91 | P>L | No |
ClinGen gnomAD |
|
|
rs768986033 CA368587236 |
91 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747982679 CA4395093 |
93 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1452492192 CA368587348 |
96 | Y>D | No |
ClinGen gnomAD |
|
|
CA368587417 rs1431100890 |
98 | M>I | No |
ClinGen TOPMed |
|
|
rs1392212542 CA368587426 |
99 | P>S | No |
ClinGen gnomAD |
|
|
CA368587456 rs1390194024 |
100 | Y>C | No |
ClinGen TOPMed |
|
|
rs773092336 CA163284764 |
102 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773092336 CA4395098 |
102 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441212026 CA368587502 |
102 | G>R | No |
ClinGen gnomAD |
|
|
rs1441212026 CA368587494 |
102 | G>W | No |
ClinGen gnomAD |
|
|
CA368587530 rs1242028776 |
103 | G>E | No |
ClinGen gnomAD |
|
|
CA368587525 rs1231094516 |
103 | G>W | No |
ClinGen TOPMed |
|
|
CA368587551 rs1316236651 |
104 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368587545 rs1316236651 |
104 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368587557 rs1236741605 |
104 | G>V | No |
ClinGen gnomAD |
|
|
rs759098985 CA4395102 |
105 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA368587574 rs759098985 |
105 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA163284805 rs955016639 |
107 | P>A | No |
ClinGen Ensembl |
|
|
CA368587627 rs1357071422 |
108 | T>N | No |
ClinGen gnomAD |
|
|
rs999957010 CA163284812 |
109 | Y>F | No |
ClinGen TOPMed |
|
|
CA368587682 rs1584742484 |
110 | G>D | No |
ClinGen Ensembl |
|
|
CA4395105 rs374549725 |
111 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368587752 rs1417890277 |
114 | P>S | No |
ClinGen gnomAD |
|
|
rs1461500929 CA368587804 |
116 | G>C | No |
ClinGen gnomAD |
|
|
CA368587833 rs1584742583 |
117 | H>P | No |
ClinGen Ensembl |
|
|
CA368587828 rs1315167979 |
117 | H>Y | No |
ClinGen TOPMed |
|
|
CA4395107 rs765721503 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4395109 rs144415744 |
119 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163284833 rs752677265 |
120 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA368587986 rs1314698147 |
122 | I>M | No |
ClinGen gnomAD |
|
|
rs1584742654 CA368588073 |
125 | H>P | No |
ClinGen Ensembl |
|
|
rs1356252432 CA368588108 |
126 | H>R | No |
ClinGen gnomAD |
|
|
CA4395113 rs781431011 |
127 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1426560092 CA368588399 |
136 | S>T | No |
ClinGen gnomAD |
|
|
CA368588414 rs1301315259 |
137 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046059582 CA163284985 |
138 | A>V | No |
ClinGen TOPMed |
|
|
CA368588467 rs1177938378 |
141 | D>N | No |
ClinGen gnomAD |
|
|
CA4395137 rs770744408 |
144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4395138 rs778872288 |
145 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368588553 rs1457570785 |
146 | P>L | No |
ClinGen TOPMed |
|
|
rs1221108567 CA368588565 |
147 | P>L | No |
ClinGen gnomAD |
|
|
rs745818631 CA4395139 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775147901 CA4395142 CA4395141 |
148 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775147901 CA368588567 |
148 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs918945385 CA163285011 |
154 | E>K | No |
ClinGen Ensembl |
|
|
CA163285023 rs865953723 |
158 | S>F | No |
ClinGen Ensembl |
|
|
CA4395145 rs763412688 |
161 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4395146 rs368922844 |
162 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4395148 rs200061976 |
164 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1395459534 CA368588816 |
166 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 167 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756307207 CA4395151 |
169 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368588878 rs1401412210 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778011424 CA4395152 |
171 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA368588971 rs1438886710 |
178 | D>N | No |
ClinGen gnomAD |
|
|
CA4395156 rs745755853 |
180 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778589668 CA4395155 |
180 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1312148655 CA368589024 |
182 | Q>* | No |
ClinGen gnomAD |
|
|
CA368589226 rs1351999620 |
190 | A>V | No |
ClinGen gnomAD |
|
|
CA4395158 rs139994743 |
191 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584743618 CA368589370 |
196 | W>G | No |
ClinGen Ensembl |
|
|
CA4395195 rs766301386 |
197 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4395196 rs751487130 |
198 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1014861926 CA163287363 |
198 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368591200 rs1584748080 |
206 | V>G | No |
ClinGen Ensembl |
|
|
rs1195671320 CA368591196 |
206 | V>L | No |
ClinGen gnomAD |
|
|
rs370731717 CA4395198 |
209 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4395199 rs150615307 |
209 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777364262 CA4395201 |
210 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4395202 rs777364262 |
210 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs576747789 CA4395200 |
210 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1563018110 CA368591226 |
211 | Q>R | No |
ClinGen Ensembl |
|
|
rs747508007 CA4395207 |
212 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4395206 rs780399231 |
212 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4395209 rs776746056 |
213 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769097135 CA4395208 |
213 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769951704 CA4395211 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201998782 CA4395210 |
214 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368591247 rs1484768992 |
215 | G>E | No |
ClinGen gnomAD |
|
|
rs1262750069 CA368591252 |
216 | A>G | No |
ClinGen gnomAD |
|
|
rs773520881 CA4395212 |
216 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA368591257 rs1584748291 |
217 | L>P | No |
ClinGen Ensembl |
|
|
rs1250853793 CA368591261 |
218 | Q>* | No |
ClinGen TOPMed |
|
|
CA368591276 rs1446673350 |
220 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA368591279 rs1191223386 |
220 | R>L | No |
ClinGen gnomAD |
|
|
CA368591277 rs1191223386 |
220 | R>Q | No |
ClinGen gnomAD |
|
|
CA368591290 CA368591291 rs1255302883 |
222 | R>S | No |
ClinGen gnomAD |
|
|
rs1584748340 CA368591296 |
223 | V>G | No |
ClinGen Ensembl |
|
|
CA368591305 rs1335360205 |
224 | F>L | No |
ClinGen TOPMed |
|
|
CA4395214 rs558821321 |
226 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767395589 CA4395217 |
232 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759504150 CA4395216 |
232 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395219 rs755529222 |
233 | F>C | No |
ClinGen ExAC |
|
|
CA4395218 rs201173432 |
233 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs780380618 CA4395223 |
234 | D>E | No |
ClinGen ExAC |
|
|
CA4395222 rs753419046 |
234 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs753419046 CA4395221 |
234 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4395220 rs777276525 |
234 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA4395224 rs747377942 |
235 | N>I | No |
ClinGen ExAC |
|
|
rs577236268 CA4395225 |
235 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1372983077 CA368591370 |
235 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs139718904 CA163287418 |
236 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139718904 CA4395227 |
236 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149954299 CA4395228 |
240 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368591450 rs763265711 |
242 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201947936 CA368591463 |
243 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203674399 CA368591459 |
243 | A>T | No |
ClinGen gnomAD |
|
|
rs201947936 CA4395231 |
243 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1039382858 CA368591465 |
244 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA163287443 rs1039382858 |
244 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759212081 CA163287446 |
245 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759212081 CA4395233 |
245 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140988239 CA4395232 |
245 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368591512 rs1183081826 |
246 | I>M | No |
ClinGen gnomAD |
|
|
CA368591504 rs1241320245 |
246 | I>V | No |
ClinGen TOPMed |
|
|
rs1156586240 CA368591538 |
248 | K>N | No |
ClinGen gnomAD |
|
|
rs143401742 CA4395235 |
248 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763587033 CA4395237 |
251 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4395236 rs760664363 |
251 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA368591809 rs1310829760 |
259 | G>E | No |
ClinGen gnomAD |
|
|
rs778464271 CA4395264 |
261 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395268 rs368044223 |
263 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163287623 rs757573671 |
265 | L>R | No |
ClinGen Ensembl |
|
|
CA4395271 rs772392508 |
266 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775122762 CA4395272 |
266 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368591997 rs1430136753 |
271 | E>A | No |
ClinGen gnomAD |
|
|
CA368592004 rs1170907348 |
271 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4395275 rs80278106 |
273 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414240978 CA368592104 |
277 | A>E | No |
ClinGen gnomAD |
|
|
CA368592101 rs1376200548 |
277 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1376200548 CA368592097 |
277 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA368592112 rs1414240978 |
277 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215333253 CA368592183 |
282 | E>K | No |
ClinGen gnomAD |
|
|
rs371531627 CA4395280 |
284 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368592230 rs371531627 |
284 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368592260 rs1563019189 |
286 | K>E | No |
ClinGen Ensembl |
|
|
CA368592279 rs1348032661 |
287 | E>K | No |
ClinGen gnomAD |
|
|
rs1424528904 CA368592302 |
288 | E>* | No |
ClinGen TOPMed |
|
|
rs370063149 CA4395283 |
288 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs749020577 | 288 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368592330 rs1235192416 |
289 | G>V | No |
ClinGen gnomAD |
|
|
CA368592341 rs1186680086 |
290 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4395284 rs766105030 |
290 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150930514 CA163287702 |
291 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA163287738 rs937914351 |
292 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368592373 rs1175514386 |
293 | A>T | No |
ClinGen gnomAD |
|
|
rs1434233543 CA368592391 |
294 | G>D | No |
ClinGen gnomAD |
|
|
rs372442352 CA4395285 |
294 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174066354 CA368592430 |
297 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4395286 rs756497699 |
297 | D>N | No |
ClinGen ExAC |
|
|
CA163287757 rs756497699 |
297 | D>Y | No |
ClinGen ExAC |
|
|
rs373668899 CA4395288 |
298 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199702658 CA4395289 CA163287773 |
299 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA4395290 rs375882161 |
300 | R>C | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140745082 CA4395291 |
300 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758513653 CA368592484 |
301 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395292 rs758513653 |
301 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780280009 CA4395293 |
302 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780280009 CA4395294 |
302 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163287787 rs896313092 |
304 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4395296 rs780973393 |
306 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4395298 rs748076523 |
307 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1363261762 CA368592564 |
307 | E>G | No |
ClinGen TOPMed |
|
|
CA368592579 rs1157042764 |
308 | K>E | No |
ClinGen TOPMed |
|
|
rs531290886 CA163287797 |
308 | K>R | No |
ClinGen gnomAD |
|
|
CA4395299 rs769829227 |
310 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs139372604 CA4395301 |
312 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1037273810 CA163287804 |
314 | Q>H | No |
ClinGen TOPMed |
|
|
CA368592767 rs1584750535 |
316 | E>G | No |
ClinGen Ensembl |
|
|
rs1215850724 CA368592792 |
317 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs908329217 CA163287876 |
317 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1563019829 CA368592832 |
320 | S>P | No |
ClinGen Ensembl |
|
|
rs1466581207 CA368592850 |
321 | N>S | No |
ClinGen TOPMed |
|
|
rs750888769 CA4395329 |
326 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368592961 rs143173043 |
327 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766445211 CA4395331 |
327 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368592964 rs143173043 |
327 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143173043 CA4395330 |
327 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751698942 CA4395332 |
328 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs755172483 CA4395333 |
328 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1368227435 CA368592992 |
329 | E>D | No |
ClinGen gnomAD |
|
|
rs1416060198 CA368592997 |
330 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA163287889 rs767768509 |
331 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395334 rs767768509 |
331 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368593016 rs767768509 |
331 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755891051 CA4395336 |
333 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917049783 CA163287915 |
335 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA368593100 rs1199096208 |
336 | E>D | No |
ClinGen TOPMed |
|
|
rs749243764 CA4395338 |
336 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs914071006 CA163287917 |
337 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368593123 rs1563020049 |
338 | K>Q | No |
ClinGen Ensembl |
|
|
CA4395339 rs147090333 |
339 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368593151 rs1229967805 |
340 | D>N | No |
ClinGen TOPMed |
|
|
CA163287923 rs979617228 |
342 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368593233 rs1584750856 |
345 | A>T | No |
ClinGen Ensembl |
|
|
CA163287926 rs936712483 |
345 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1464102567 CA368593339 |
348 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1432266569 CA368593343 |
348 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368593361 rs1439168417 |
350 | K>Q | No |
ClinGen TOPMed |
|
|
CA368593389 rs1159982737 |
351 | K>R | No |
ClinGen gnomAD |
|
|
CA4395366 rs768253003 |
354 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4395367 rs773607407 |
354 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368593449 rs1584751291 |
355 | K>N | No |
ClinGen Ensembl |
|
|
rs1387288591 CA368593492 |
358 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1387288591 CA368593490 |
358 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA368593567 rs1280164970 |
363 | D>N | No |
ClinGen gnomAD |
|
|
CA4395374 rs760929016 |
367 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764261584 CA4395375 |
368 | S>L | No |
ClinGen ExAC |
|
|
rs1183382390 CA368593702 |
371 | E>* | No |
ClinGen gnomAD |
|
|
CA4395377 rs761646813 |
372 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758480212 CA4395380 |
375 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779604376 CA4395381 |
376 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368593779 rs138346691 |
376 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4395383 rs562353828 |
377 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368593810 rs780669876 |
378 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368593799 rs1388524017 |
378 | Q>K | No |
ClinGen gnomAD |
|
|
CA163287988 rs867955954 |
379 | A>S | No |
ClinGen Ensembl |
|
|
CA4395386 rs747858843 |
380 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991749372 CA163287995 |
381 | E>K | No |
ClinGen TOPMed |
|
|
CA4395387 rs771230133 |
382 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149587305 CA4395388 |
383 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA4395390 rs746359437 |
384 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395389 rs746359437 |
384 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322741605 CA368593950 |
384 | E>V | No |
ClinGen gnomAD |
|
|
rs199680289 CA4395391 |
385 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs571067490 | 386 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426027976 CA368594147 |
387 | E>A | No |
ClinGen gnomAD |
|
|
rs770566703 CA4395436 |
388 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1174271629 CA368594182 |
388 | E>A | No |
ClinGen gnomAD |
|
|
CA4395437 rs113298167 |
389 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4395439 rs767528350 |
390 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA368594271 rs1443829840 |
393 | K>E | No |
ClinGen gnomAD |
|
|
CA4395442 rs775437116 |
393 | K>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 394 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4395444 rs763605047 |
397 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1218110712 CA368596513 |
399 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA368596623 rs1463363526 |
404 | P>A | No |
ClinGen gnomAD |
|
|
CA368596639 rs1223758146 |
404 | P>L | No |
ClinGen gnomAD |
|
|
rs144305791 CA4395448 |
405 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163288209 rs759736949 |
407 | A>T | No |
ClinGen Ensembl |
|
|
CA4395451 rs755412182 |
408 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs559507893 CA4395452 |
408 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368596806 rs1158691314 |
409 | G>W | No |
ClinGen gnomAD |
|
|
rs1463319472 CA368596830 |
410 | L>P | No |
ClinGen gnomAD |
|
|
CA368596854 rs1349835036 |
411 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368596988 rs1191260541 |
414 | P>L | No |
ClinGen TOPMed |
|
|
CA163288257 rs150582291 |
415 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150582291 CA4395460 |
415 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201256411 CA4395459 |
415 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4395461 rs530416504 |
416 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA163288262 rs976164443 |
418 | H>Y | No |
ClinGen TOPMed |
|
|
CA368597173 rs1381593313 |
421 | C>S | No |
ClinGen TOPMed |
|
|
CA368597269 rs1483421301 |
425 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 426 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750077751 CA4395467 |
427 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775383349 CA4395468 |
428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164234590 CA368597451 |
429 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1417283728 CA368597477 |
430 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 430 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163288282 rs200449232 |
431 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA163288288 rs1042750878 |
433 | S>P | No |
ClinGen TOPMed |
|
|
rs756753262 CA4395471 |
434 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368597537 rs1371938437 |
434 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368597556 rs1177368256 |
436 | E>K | No |
ClinGen TOPMed |
|
|
CA4395473 rs753989283 |
438 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4395475 rs779147142 |
439 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1256736658 CA368597946 |
443 | R>K | No |
ClinGen gnomAD |
|
|
rs922559389 CA163288447 |
446 | G>D | No |
ClinGen Ensembl |
|
|
CA368598114 rs1389034583 |
448 | M>T | No |
ClinGen gnomAD |
|
|
CA368598153 rs1434354506 |
449 | R>W | No |
ClinGen gnomAD |
|
|
rs1234024949 CA368598180 |
450 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1332944392 CA368598160 |
450 | V>M | No |
ClinGen gnomAD |
|
|
CA163288448 rs888110002 |
451 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs932741726 CA163288450 |
452 | L>F | No |
ClinGen Ensembl |
|
|
rs1049812032 CA163288454 |
455 | P>L | No |
ClinGen Ensembl |
|
|
rs1017959548 CA163288460 |
456 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4395502 rs558839605 |
458 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA163288570 rs755529934 |
463 | R>C | No |
ClinGen TOPMed |
|
|
rs1308663486 CA368598643 |
463 | R>H | No |
ClinGen gnomAD |
|
|
CA4395530 rs773742753 |
467 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395529 rs773742753 |
467 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368598827 rs1584754397 |
468 | T>A | No |
ClinGen Ensembl |
|
|
rs755222272 CA4395533 |
470 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368598903 rs1290176208 |
471 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368598909 rs1311625867 |
471 | R>H | No |
ClinGen gnomAD |
|
|
rs1476843728 CA368598922 |
472 | S>G | No |
ClinGen TOPMed |
|
|
rs1356702806 CA368598940 |
472 | S>I | No |
ClinGen gnomAD |
|
|
rs1584754485 CA368598949 |
472 | S>R | No |
ClinGen Ensembl |
|
|
rs1356702806 CA368598936 |
472 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4395536 rs756049913 |
483 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779526826 CA4395564 |
488 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1335142892 CA368599711 |
488 | R>W | No |
ClinGen gnomAD |
|
|
rs1320471757 CA368599736 |
490 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 492 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4395568 rs749785979 |
497 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368599914 rs1222461269 |
499 | D>E | No |
ClinGen gnomAD |
|
|
CA368599944 rs1248421074 |
501 | T>I | No |
ClinGen Ensembl |
|
|
CA4395570 rs372466447 |
502 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759496512 CA4395571 |
504 | V>I | Variant assessed as Somatic; 0.0002323 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1484822498 CA368599991 |
505 | R>C | No |
ClinGen gnomAD |
|
|
CA4395572 rs149902453 |
505 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4395573 rs369901340 |
506 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163288899 rs927582149 |
507 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4395575 rs144966688 |
508 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1343980434 CA368600072 |
510 | I>V | No |
ClinGen gnomAD |
|
|
CA4395578 rs149025559 |
512 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4395579 rs750394093 |
513 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368600158 rs1367683836 |
515 | Q>R | No |
ClinGen gnomAD |
|
|
rs1404026276 CA368600189 |
516 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 517 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163288915 rs868071276 |
518 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368600259 rs1283242387 |
520 | D>H | No |
ClinGen gnomAD |
|
|
rs1283242387 CA368600258 |
520 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4395582 rs751168051 |
521 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368600283 rs1315058885 |
521 | I>V | No |
ClinGen gnomAD |
|
|
rs754683260 CA4395584 |
523 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4395585 rs778092656 |
524 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368600386 rs1385135316 |
526 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368600433 rs1297892035 |
528 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1158358449 CA368600467 |
530 | T>A | No |
ClinGen gnomAD |
|
|
rs1406168838 CA368600478 |
530 | T>M | No |
ClinGen gnomAD |
|
|
rs779346052 CA4395588 |
532 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1462168723 CA368600584 |
536 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 538 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368600658 rs1367600786 |
539 | A>S | No |
ClinGen TOPMed |
|
|
CA368600665 rs1351977918 |
539 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368600761 rs1446168537 |
542 | P>L | No |
ClinGen TOPMed |
|
|
CA163288944 rs771135108 |
543 | G>V | No |
ClinGen Ensembl |
|
|
rs775693046 CA4395591 |
544 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775471328 CA4395592 |
544 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147945684 CA4395595 |
545 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777023963 CA4395594 |
545 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368600846 rs1340315253 |
546 | P>L | No |
ClinGen TOPMed |
|
|
rs765139403 CA368600831 |
546 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395596 rs765139403 |
546 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763015025 CA4395598 |
548 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765793877 CA4395599 |
549 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290568161 CA368601132 |
551 | L>P | No |
ClinGen gnomAD |
|
|
CA4395626 rs758721392 |
556 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395631 rs373662262 |
559 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368601362 rs770103323 |
560 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4395632 rs770103323 |
560 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA368601395 rs1584757333 |
561 | I>M | No |
ClinGen Ensembl |
|
|
CA4395633 rs777404078 |
561 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs547672294 CA163289394 |
563 | D>N | No |
ClinGen gnomAD |
|
|
rs763762073 CA4395641 |
571 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760285736 CA4395640 |
571 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1584757436 CA368601953 |
577 | L>R | No |
ClinGen Ensembl |
|
|
rs200083178 CA4395644 |
578 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368602019 rs1293651643 |
579 | S>T | No |
ClinGen TOPMed |
|
|
rs777736337 CA4395647 |
580 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163289448 rs897743428 |
580 | S>I | No |
ClinGen TOPMed |
|
|
rs752864990 CA4395649 |
581 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs756183894 CA4395650 |
582 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563024110 CA368602086 |
582 | G>V | No |
ClinGen Ensembl |
|
|
CA163289470 rs367936513 |
583 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA368602088 rs367936513 |
583 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1047069689 CA163289473 |
583 | A>V | No |
ClinGen TOPMed |
|
|
CA368602128 rs1203885870 |
584 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1452805928 CA368602194 |
585 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4395651 rs557823561 |
585 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4395652 rs749488457 |
586 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs572548566 CA368602282 |
587 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA368602286 rs1267763769 |
588 | P>S | No |
ClinGen gnomAD |
|
|
rs1215315954 CA368602341 |
589 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368602441 rs1184089011 |
592 | G>A | No |
ClinGen gnomAD |
|
|
CA368602399 rs1425630802 |
592 | G>R | No |
ClinGen TOPMed |
|
|
CA163289494 rs1002817909 |
593 | N>H | No |
ClinGen gnomAD |
|
|
CA4395657 rs775434631 |
594 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393017227 CA368602523 |
594 | P>S | No |
ClinGen gnomAD |
|
|
rs768064558 CA4395659 |
595 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372260164 CA4395661 |
598 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163289509 rs28729265 |
599 | V>G | No |
ClinGen Ensembl |
|
|
CA368602671 rs1335544264 |
599 | V>M | No |
ClinGen gnomAD |
|
|
CA368602777 rs1267735734 |
601 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4395663 rs201528871 |
601 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4395666 CA4395665 rs768102333 |
603 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368602904 rs1290319653 |
604 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 604 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4395670 rs754074241 |
605 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756163189 CA4395668 |
605 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs201215771 CA368602988 |
606 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201941018 CA4395671 |
607 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs772563268 CA4395700 |
611 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA368603500 rs1363108444 |
617 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4395704 rs777214532 |
618 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395707 rs765305318 |
618 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777214532 CA4395705 |
618 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163289628 rs921262492 |
619 | V>M | No |
ClinGen TOPMed |
|
|
rs1046329487 CA163289635 |
622 | L>F | No |
ClinGen TOPMed |
|
|
rs763218296 CA4395708 |
624 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA368603707 rs1172108645 |
625 | Y>C | No |
ClinGen TOPMed |
|
|
rs751353837 CA368603737 |
626 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766142137 CA4395709 |
626 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395712 rs142458683 |
632 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163289647 rs906444936 |
632 | N>S | No |
ClinGen Ensembl |
|
|
CA368603885 rs1430483729 |
635 | E>Q | No |
ClinGen gnomAD |
|
|
rs1469595503 CA368603934 |
638 | N>S | No |
ClinGen gnomAD |
|
|
CA368603947 rs1245027945 |
639 | R>P | No |
ClinGen TOPMed |
|
|
CA368604000 rs1338826274 |
642 | I>N | No |
ClinGen TOPMed |
|
|
CA368604075 rs1333701461 |
645 | V>A | No |
ClinGen gnomAD |
|
|
CA163289670 rs150212900 |
645 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA368604086 rs1432025934 |
646 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4395714 rs566203506 |
648 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368604120 rs1360644390 |
648 | P>T | No |
ClinGen gnomAD |
|
|
CA4395715 rs777494395 |
649 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368604222 rs1222702211 |
652 | N>S | No |
ClinGen gnomAD |
|
|
CA4395717 rs781556577 |
653 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA163289682 rs749149580 |
654 | I>V | No |
ClinGen Ensembl |
|
|
rs778655910 CA368604277 |
655 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778655910 CA4395718 |
655 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747283824 CA368604324 |
656 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368604305 rs1260282178 |
656 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1201930802 CA368604328 |
657 | G>R | No |
ClinGen gnomAD |
|
|
CA368604368 rs1337969943 |
658 | E>G | No |
ClinGen TOPMed |
|
|
rs773741115 CA4395745 |
661 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749318081 CA4395746 |
663 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584759015 CA368606365 |
664 | K>E | No |
ClinGen Ensembl |
|
|
CA163291012 rs974575233 |
665 | T>A | No |
ClinGen TOPMed |
|
|
rs771057596 CA368606513 |
666 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1438568221 CA368606475 |
666 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163291014 rs963477394 |
669 | K>T | No |
ClinGen Ensembl |
|
|
CA4395748 rs774373595 |
670 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774373595 CA368606686 |
670 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs759873478 CA4395749 |
671 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA368606764 rs1478376560 |
672 | P>L | No |
ClinGen gnomAD |
|
|
rs1184146589 CA368606805 |
674 | L>Q | No |
ClinGen TOPMed |
|
|
CA163291026 rs371902746 |
675 | S>N | No |
ClinGen Ensembl |
|
|
CA4395751 rs368050045 |
677 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368606879 rs1385354510 |
677 | R>W | No |
ClinGen gnomAD |
|
|
rs764072226 CA4395753 |
679 | S>* | No |
ClinGen ExAC |
|
| TCGA novel | 679 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563025468 CA368606970 |
681 | S>L | No |
ClinGen Ensembl |
|
|
CA4395756 rs764868365 |
682 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395755 rs756651678 |
682 | E>Q | No |
ClinGen ExAC |
|
|
CA4395758 rs750030958 |
683 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs781378496 CA4395759 |
686 | Q>* | No |
ClinGen ExAC |
|
|
rs748472960 CA4395760 |
690 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381886204 CA368607230 |
690 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1271934035 CA368607258 |
691 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 691 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340337434 CA368607290 |
693 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1214188608 CA368607315 |
693 | P>L | No |
ClinGen gnomAD |
|
|
CA368607356 rs1271405612 |
695 | Q>E | No |
ClinGen gnomAD |
|
|
CA163291044 rs371458309 |
700 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749804015 CA4395764 |
701 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs749804015 CA4395763 |
701 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774552045 CA4395765 |
702 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746059520 CA4395766 |
705 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053409110 CA163291064 |
708 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775873760 CA4395768 |
710 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs79048795 CA163291069 |
715 | C>G | No |
ClinGen Ensembl |
|
|
rs1055727029 CA163291071 |
716 | P>L | No |
ClinGen gnomAD |
|
|
rs1171660993 CA368608074 |
722 | F>L | No |
ClinGen gnomAD |
|
|
CA368608332 rs1335699969 |
729 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4395809 rs747927869 |
729 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA368608449 rs1279086996 |
733 | F>V | No |
ClinGen TOPMed |
|
|
CA368608540 rs1487276171 |
736 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 738 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762866557 CA4395814 |
740 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA368608651 rs1250905863 |
740 | I>M | No |
ClinGen gnomAD |
|
|
CA368608710 rs1176699605 |
742 | E>D | No |
ClinGen gnomAD |
|
|
CA368608715 rs1440271046 |
743 | V>M | No |
ClinGen TOPMed |
|
|
CA368608735 rs1308870117 |
744 | K>* | No |
ClinGen TOPMed |
|
|
CA4395817 rs199528372 |
748 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138829624 CA4395818 |
748 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765618745 CA163291249 |
752 | N>K | No |
ClinGen Ensembl |
|
|
rs1244991277 CA368608986 |
752 | N>S | No |
ClinGen gnomAD |
|
|
rs1168910633 CA368609005 |
753 | F>Y | No |
ClinGen gnomAD |
|
|
rs1478852246 CA368609251 |
762 | L>P | No |
ClinGen gnomAD |
|
|
CA368609369 rs1194598637 |
766 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368609390 rs1252020685 |
767 | P>A | No |
ClinGen TOPMed |
|
|
rs1174296942 CA368609513 |
770 | P>L | No |
ClinGen TOPMed |
|
|
CA368609506 rs1311307894 |
770 | P>S | No |
ClinGen gnomAD |
|
|
rs890600582 CA163291262 |
771 | P>S | No |
ClinGen TOPMed |
|
|
rs1229144927 CA368609557 |
772 | G>R | No |
ClinGen gnomAD |
|
|
CA4395824 rs780248539 |
773 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 774 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572545803 CA4395826 |
774 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA163291439 rs779367780 |
776 | I>T | No |
ClinGen gnomAD |
|
|
rs1030911468 CA163291443 |
777 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368609977 rs1030911468 |
777 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201575972 CA4395861 |
779 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368610076 rs774994584 |
779 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4395862 rs774994584 |
779 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 779 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201575972 CA368610062 |
779 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA163291452 rs111916727 |
781 | L>V | No |
ClinGen Ensembl |
|
|
CA368610225 rs1189794506 |
783 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4395864 rs767614134 |
786 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4395866 rs756252973 |
788 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368610409 rs1365755351 |
789 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764177630 CA4395867 |
789 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754059476 CA4395868 |
792 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1382741172 CA368610489 |
792 | P>L | No |
ClinGen gnomAD |
|
|
rs754059476 CA4395869 |
792 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368610507 rs1379442443 |
793 | Q>P | No |
ClinGen TOPMed |
|
|
CA4395872 rs758306568 |
794 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163291467 rs943417339 |
796 | M>I | No |
ClinGen Ensembl |
|
|
CA163291464 rs113682842 |
796 | M>V | No |
ClinGen Ensembl |
|
|
rs746454131 CA4395874 |
798 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA368610657 rs1459420481 |
798 | Y>H | No |
ClinGen TOPMed |
|
|
CA368610709 rs1321306600 |
799 | G>C | No |
ClinGen gnomAD |
|
|
CA4395876 rs780925229 |
800 | Q>E | No |
ClinGen ExAC |
|
|
rs980073819 CA163291477 |
800 | Q>H | No |
ClinGen TOPMed |
|
|
CA4395877 rs747876840 |
801 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4395878 rs771409898 |
802 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1380105013 CA368610788 |
803 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA163291481 rs974942902 |
804 | P>A | No |
ClinGen Ensembl |
|
|
CA163291488 rs764626895 |
804 | P>L | No |
ClinGen gnomAD |
|
|
CA163291494 rs992987251 |
805 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368610899 rs1437301642 |
807 | G>D | No |
ClinGen gnomAD |
|
|
CA368610893 rs1359158177 |
807 | G>S | No |
ClinGen TOPMed |
|
|
CA4395881 rs772421900 |
809 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266550406 CA368610966 |
810 | A>T | No |
ClinGen TOPMed |
|
|
rs1428784983 CA368611131 |
810 | A>V | No |
ClinGen TOPMed |
|
|
rs376557679 CA163291563 |
812 | A>V | No |
ClinGen Ensembl |
|
|
rs1052257741 CA163291565 |
813 | V>A | No |
ClinGen TOPMed |
|
|
rs1276630525 CA368611260 |
814 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1276630525 CA368611265 |
814 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1193069484 CA368611272 |
814 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1193069484 CA368611277 |
814 | R>P | No |
ClinGen TOPMed |
|
|
CA163291583 rs775643465 |
816 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4395911 rs561364526 |
816 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146285121 CA4395913 |
818 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368611387 rs1207360356 |
818 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754994120 CA4395914 |
819 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368611483 rs1173066025 |
822 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4395915 rs200680733 |
822 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368611484 rs1173066025 |
822 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1358684469 CA368611521 |
825 | P>R | No |
ClinGen TOPMed |
|
|
rs1320294210 CA368612752 |
826 | H>P | No |
ClinGen gnomAD |
|
|
CA4395916 rs757396137 |
827 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399613578 CA368612809 |
827 | A>V | No |
ClinGen gnomAD |
|
|
CA4395917 rs755711164 |
828 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1224718680 CA368612843 |
829 | Y>C | No |
ClinGen gnomAD |
|
|
CA368612920 rs1343448557 |
833 | R>* | No |
ClinGen gnomAD |
|
|
rs1343448557 CA368612923 |
833 | R>G | No |
ClinGen gnomAD |
|
|
CA4395920 rs758672689 |
833 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780513216 CA4395921 |
834 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488446928 CA368612990 |
836 | Y>C | No |
ClinGen gnomAD |
|
|
rs1030963765 CA163291615 |
836 | Y>H | No |
ClinGen Ensembl |
|
|
CA163291620 rs769110040 |
837 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs142627875 CA4395925 |
838 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777143598 CA4395924 |
838 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163291626 rs777143598 |
838 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962240568 CA163291630 |
840 | R>* | No |
ClinGen TOPMed |
|
|
CA368613078 rs1377003259 |
840 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA163291633 rs369963076 |
844 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4395926 rs150948431 |
847 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1380991569 CA368613311 |
849 | P>L | No |
ClinGen gnomAD |
|
|
rs139519950 CA163291650 |
850 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4395928 rs139519950 |
850 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368613327 rs766065934 |
850 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766065934 CA4395929 |
850 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs767515571 CA4395932 |
851 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770917997 CA4395965 CA368613583 |
853 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584764421 CA368613654 |
854 | V>G | No |
ClinGen Ensembl |
|
|
rs1563028317 CA368613682 |
855 | R>H | No |
ClinGen Ensembl |
|
|
rs1400228670 CA368613683 |
856 | G>R | No |
ClinGen gnomAD |
|
|
rs779135120 CA4395966 |
857 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368613724 rs1584764503 |
858 | P>A | No |
ClinGen Ensembl |
|
|
CA368613745 rs1396297062 |
859 | R>K | No |
ClinGen gnomAD |
|
|
CA163291743 rs904592130 |
865 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs775479161 CA4395969 |
865 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4395971 rs768601571 |
872 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776439184 CA4395972 |
875 | F>I | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BXP5
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| mRNA cap binding complex binding | Binding to a mRNA cap binding complex. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| neuronal stem cell population maintenance | Any process in by an organism or tissue maintains a population of neuronal stem cells. |
| positive regulation of neurogenesis | Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. |
| primary miRNA processing | A process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| response to arsenic-containing substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an arsenic stimulus from compounds containing arsenic, including arsenates, arsenites, and arsenides. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q99MR6 | Srrt | Serrate RNA effector molecule homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDSDDEYDR | RRRDKFRRER | SDYDRSRERD | ERRRGDDWND | REWDRGRERR | SRGEYRDYDR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NRRERFSPPR | HELSPPQKRM | RRDWDEHSSD | PYHSGYEMPY | AGGGGGPTYG | PPQPWGHPDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HIMQHHVLPI | QARLGSIAEI | DLGVPPPVMK | TFKEFLLSLD | DSVDETEAVK | RYNDYKLDFR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RQQMQDFFLA | HKDEEWFRSK | YHPDEVGKRR | QEARGALQNR | LRVFLSLMET | GWFDNLLLDI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DKADAIVKML | DAAVIKMEGG | TENDLRILEQ | EEEEEQAGKP | GEPSKKEEGR | AGAGLGDGER |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KTNDKDEKKE | DGKQAENDSS | NDDKTKKSEG | DGDKEEKKED | SEKEAKKSSK | KRNRKHSGDD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SFDEGSVSES | ESESESGQAE | EEKEEAEEAL | KEKEKPKEEE | WEKPKDAAGL | ECKPRPLHKT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSLFMRNIAP | NISRAEIISL | CKRYPGFMRV | ALSEPQPERR | FFRRGWVTFD | RSVNIKEICW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NLQNIRLREC | ELSPGVNRDL | TRRVRNINGI | TQHKQIVRND | IKLAAKLIHT | LDDRTQLWAS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EPGTPPLPTS | LPSQNPILKN | ITDYLIEEVS | AEEEELLGSS | GGAPPEEPPK | EGNPAEINVE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RDEKLIKVLD | KLLLYLRIVH | SLDYYNTCEY | PNEDEMPNRC | GIIHVRGPMP | PNRISHGEVL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EWQKTFEEKL | TPLLSVRESL | SEEEAQKMGR | KDPEQEVEKF | VTSNTQELGK | DKWLCPLSGK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KFKGPEFVRK | HIFNKHAEKI | EEVKKEVAFF | NNFLTDAKRP | ALPEIKPAQP | PGPAQILPPG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LTPGLPYPHQ | TPQGLMPYGQ | PRPPILGYGA | GAVRPAVPTG | GPPYPHAPYG | AGRGNYDAFR |
| 850 | 860 | 870 | |||
| GQGGYPGKPR | NRMVRGDPRA | IVEYRDLDAP | DDVDFF |