Q8TED9
PR
Gene name |
AFAP1L1 |
Protein name |
Actin filament-associated protein 1-like 1 |
Names |
AFAP1-like protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:134265 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8TED9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TED9-F1 | Predicted | AlphaFoldDB |
643 variants for Q8TED9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs933709137 CA129036775 |
2 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs933709137 CA361694357 |
2 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA361694374 rs1409324377 |
3 | R>P | No |
ClinGen gnomAD |
|
|
rs1268838187 CA361694378 |
4 | G>S | No |
ClinGen TOPMed |
|
|
CA361673454 rs1314371327 |
7 | L>V | No |
ClinGen gnomAD |
|
|
CA3500631 rs758625586 |
10 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766887187 CA3500632 |
11 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3500633 rs752012930 |
11 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3500635 rs781292186 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361673507 rs1185908512 |
16 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3500638 rs146456901 |
17 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473096022 CA361673533 |
20 | L>F | No |
ClinGen TOPMed |
|
|
CA3500639 rs745676471 |
22 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs771932913 CA3500640 |
23 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1672029 rs1185148835 CA361673558 |
24 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA361673590 rs1561667527 |
28 | D>G | No |
ClinGen Ensembl |
|
|
rs139252846 CA3500642 |
28 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139252846 CA361673586 |
28 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500643 rs768682537 |
29 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 34 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372800883 CA3500645 |
35 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148295854 CA3500648 |
37 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs376393664 CA3500649 |
38 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500651 rs755532054 |
40 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768001773 CA3500652 |
42 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs992157574 CA361673701 |
43 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs992157574 CA129010989 |
43 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1189269813 CA361673705 |
43 | S>R | No |
ClinGen gnomAD |
|
|
CA361673722 rs1428288414 |
45 | Q>* | No |
ClinGen gnomAD |
|
|
CA361673736 rs1357682651 |
46 | P>A | No |
ClinGen TOPMed |
|
|
CA361673755 rs756078732 |
47 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756078732 CA3500654 |
47 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400197516 CA361673761 |
48 | P>A | No |
ClinGen gnomAD |
|
|
CA361673769 rs1324225389 |
49 | A>T | No |
ClinGen gnomAD |
|
|
CA361673946 rs1284390103 |
51 | E>D | No |
ClinGen gnomAD |
|
|
CA3500674 rs753919755 |
53 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146019496 CA3500675 |
55 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3429142 rs751464870 CA3500677 |
56 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3500676 rs549929475 |
56 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3500678 rs754751688 |
57 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756196313 CA129011643 |
58 | N>I | No |
ClinGen Ensembl |
|
|
CA3500680 rs781212886 |
59 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781212886 CA3500679 |
59 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777197518 CA3500682 |
61 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3500683 rs140034298 |
62 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770639664 CA3500684 |
64 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500685 rs142260655 |
64 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780204672 CA3500688 |
69 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322951925 CA361674174 |
70 | E>D | No |
ClinGen TOPMed |
|
|
rs1458138648 CA361674180 |
71 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361674193 rs1341825144 |
73 | F>L | No |
ClinGen gnomAD |
|
|
CA129011737 rs375687008 |
76 | F>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361674222 rs375687008 |
76 | F>Y | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 77 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149997373 CA3500711 |
79 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763134490 CA3500712 |
81 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs147722037 CA3500713 |
82 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475004663 CA361674977 |
83 | L>H | No |
ClinGen TOPMed |
|
|
rs61734415 CA361674986 |
84 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61734415 CA3500716 |
84 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1064135 CA3500715 rs755876664 |
84 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753723021 CA3500717 |
86 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1002589053 CA129012654 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3500718 rs756788983 |
90 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361675106 rs1388915412 |
94 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1458360745 CA361675111 |
94 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1323240480 CA361675121 |
96 | G>R | No |
ClinGen TOPMed |
|
|
CA3500721 rs758043058 |
97 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3500720 rs554643471 |
97 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368161484 CA3500722 |
98 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1353252393 CA361675140 |
99 | P>S | No |
ClinGen TOPMed |
|
|
rs1561668632 CA361675150 |
100 | E>D | No |
ClinGen Ensembl |
|
|
CA361675155 rs1171528656 |
101 | L>P | No |
ClinGen gnomAD |
|
|
rs148606187 CA3500724 |
104 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500725 rs777310262 |
106 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199689420 CA3500726 |
106 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199689420 CA3500727 |
106 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500728 rs199689420 |
106 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361675190 rs1260179517 |
107 | L>P | No |
ClinGen gnomAD |
|
|
CA129012715 rs1010330566 |
109 | N>Y | No |
ClinGen gnomAD |
|
|
rs573303164 CA3500745 |
110 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA361675286 rs1581312411 |
112 | D>A | No |
ClinGen Ensembl |
|
|
CA361675275 rs1164873346 |
112 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770998304 CA3500748 |
115 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361675341 rs1423884129 |
115 | P>S | No |
ClinGen gnomAD |
|
|
rs369530534 CA3500749 |
116 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500751 rs577708011 |
117 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776465096 CA3500752 |
118 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361675399 rs1383008186 |
119 | N>D | No |
ClinGen TOPMed |
|
|
rs1296498096 CA361675410 |
119 | N>K | No |
ClinGen TOPMed |
|
|
CA3500753 rs149041522 |
119 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377701184 CA3500755 |
120 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3500754 rs765162238 |
120 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201438791 CA3500756 |
121 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1277367178 CA361675466 |
122 | P>H | No |
ClinGen gnomAD |
|
|
CA3500758 rs765955300 |
123 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500759 rs754737428 |
123 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA3500757 rs765955300 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765955300 CA361675474 |
123 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500761 rs780988620 |
124 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA361675498 rs753120350 |
124 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780988620 CA361675492 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3500762 rs753120350 |
124 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs778451632 CA3500764 |
125 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756491742 CA3500763 |
125 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3500765 rs143021070 |
126 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189209531 CA361675558 |
127 | Y>C | No |
ClinGen gnomAD |
|
|
CA3500766 rs771308362 |
127 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs933538914 CA129013871 |
129 | E>K | No |
ClinGen TOPMed |
|
|
CA129013872 rs933538914 |
129 | E>Q | No |
ClinGen TOPMed |
|
|
rs745919217 CA361675623 |
130 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500768 rs745919217 |
130 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500767 rs779094956 |
130 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361675644 rs1343248199 |
131 | L>P | No |
ClinGen TOPMed |
|
|
CA129013918 rs943117857 |
134 | G>E | No |
ClinGen Ensembl |
|
|
rs761608169 CA361675747 |
136 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3500773 rs761608169 |
136 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3500772 rs571245239 |
136 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361675750 rs761608169 |
136 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769529262 CA361675790 |
138 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500774 rs769529262 |
138 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361675821 rs1302369059 |
139 | P>L | No |
ClinGen gnomAD |
|
|
rs1214374381 CA361675802 |
139 | P>S | No |
ClinGen gnomAD |
|
|
CA3500776 rs373024375 |
142 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500777 rs766214702 |
143 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751149333 CA3500778 |
146 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3365914 rs199519861 CA129016499 |
147 | G>V | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs148231801 CA129016514 |
148 | C>W | No |
ClinGen ESP TOPMed |
|
|
rs779281062 CA361677077 |
150 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779281062 CA3500786 |
150 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500788 rs772080451 |
152 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500789 rs772080451 |
152 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500787 rs570732464 |
152 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200939762 CA3500791 |
153 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577136952 CA129016572 |
156 | D>G | No |
ClinGen Ensembl |
|
|
rs759142458 CA3500796 |
158 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs770906538 CA3500795 |
158 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770906538 CA3500794 |
158 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3500798 rs371770954 |
159 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500800 rs760448524 |
160 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs375197456 CA3500802 |
161 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184818004 CA3500803 |
162 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500804 rs750878464 |
162 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM482326 CA361677163 rs1460472192 |
164 | S>I | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA361677161 rs1460472192 |
164 | S>N | No |
ClinGen TOPMed |
|
|
CA361677164 CA129016630 rs932406099 |
164 | S>R | No |
ClinGen gnomAD |
|
|
rs1222701552 CA361677183 |
167 | P>S | No |
ClinGen gnomAD |
|
|
CA361677188 rs1252324132 |
168 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA129016635 rs976444671 |
169 | T>A | No |
ClinGen TOPMed |
|
|
CA361677209 rs1581316680 |
171 | V>G | No |
ClinGen Ensembl |
|
|
rs780146879 CA361677206 |
171 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780146879 CA3500806 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500807 rs370534234 |
173 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550069903 CA3500808 |
174 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA129016663 rs550069903 |
174 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141207215 CA129016668 |
175 | L>F | No |
ClinGen ESP |
|
|
CA3500809 rs781206348 |
175 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3500810 rs749123492 |
176 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469422610 CA361677311 |
178 | S>P | No |
ClinGen gnomAD |
|
|
CA3500825 rs376517590 |
182 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751643977 CA3500826 |
183 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781501981 CA3500828 |
184 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3500829 rs748281443 |
185 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500830 rs756332624 |
186 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778905409 CA3500831 |
187 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3500833 rs745640217 |
187 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1212830645 CA361678634 |
188 | S>P | No |
ClinGen TOPMed |
|
|
CA3500834 rs780067865 |
189 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500837 rs369181906 |
193 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361678906 rs1363090293 |
196 | E>D | No |
ClinGen TOPMed |
|
|
CA361678962 rs1448894157 |
199 | G>R | No |
ClinGen TOPMed |
|
|
rs1460087824 CA361679004 |
200 | K>R | No |
ClinGen gnomAD |
|
|
rs922720315 CA129020284 |
202 | P>L | No |
ClinGen gnomAD |
|
|
CA3500841 rs773634387 |
203 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1049894359 CA129020298 |
204 | P>S | No |
ClinGen Ensembl |
|
|
rs763237025 CA129020299 |
205 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3500843 rs766887140 |
205 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361679149 rs752014306 |
206 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361679126 rs1478553298 |
206 | H>Y | No |
ClinGen gnomAD |
|
|
rs1467790149 CA361679178 |
207 | Q>H | No |
ClinGen gnomAD |
|
|
CA3500845 rs759695857 |
207 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA129020336 rs1054606786 |
210 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 211 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200526464 CA3500846 |
212 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1390627526 CA361679310 |
212 | E>K | No |
ClinGen TOPMed |
|
|
CA3500847 rs752802841 |
213 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3500848 rs756353505 |
216 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA361679497 rs1223889200 |
222 | R>S | No |
ClinGen gnomAD |
|
|
rs1167532773 CA361679499 |
223 | I>L | No |
ClinGen TOPMed |
|
|
CA129020366 rs892032328 |
223 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3500849 rs778132903 |
224 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3500850 rs750244144 |
225 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1321600803 CA361679551 |
225 | A>P | No |
ClinGen gnomAD |
|
|
rs768606047 CA3500854 |
229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500852 rs570213105 |
229 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1064138 CA3500856 rs747689307 |
232 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3500857 rs370079883 COSM1599930 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA129020393 rs1001249527 |
234 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361679793 rs1174883799 |
236 | W>* | No |
ClinGen gnomAD |
|
|
COSM1567840 rs1363930427 CA361679813 |
237 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3500859 rs763332328 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1259206027 CA361679908 |
241 | T>M | No |
ClinGen gnomAD |
|
|
rs1343903955 CA361679944 |
243 | I>F | No |
ClinGen gnomAD |
|
|
rs144791179 CA3500862 |
243 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500863 rs768060071 |
247 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3500879 rs202156949 |
250 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202156949 CA3500880 |
250 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750257541 CA3500882 |
251 | Y>* | No |
ClinGen ExAC |
|
|
rs776003744 CA3500881 |
251 | Y>N | No |
ClinGen ExAC |
|
|
CA361681263 rs1357612461 |
252 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361681255 rs1357612461 |
252 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361681309 rs1248867140 |
253 | S>N | No |
ClinGen gnomAD |
|
|
CA361681396 rs199506796 |
255 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3500885 rs142531986 |
257 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373991708 CA3500884 |
257 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361681664 rs1392005136 |
265 | L>Q | No |
ClinGen TOPMed |
|
|
rs754745832 CA3500889 |
265 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1581320978 CA361681706 |
267 | T>P | No |
ClinGen Ensembl |
|
|
CA3500890 rs767379415 |
267 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423042564 CA361681728 |
268 | C>R | No |
ClinGen gnomAD |
|
|
CA3500891 rs752641464 |
269 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3500892 rs752641464 |
269 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3500893 rs777317173 |
270 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs192371998 CA3500895 |
272 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192371998 CA361681872 |
272 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146039286 CA361681881 |
273 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146039286 CA3500896 |
273 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361681912 rs1382611048 |
274 | P>L | No |
ClinGen gnomAD |
|
|
CA3500898 rs772429268 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361681951 rs1462908804 |
277 | S>N | No |
ClinGen TOPMed |
|
|
CA3500902 rs776907700 |
278 | R>Q | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368271604 CA3500901 |
278 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761979787 CA3500903 |
279 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3500904 rs765391733 |
280 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA361682011 rs1421456122 |
283 | E>D | No |
ClinGen gnomAD |
|
|
COSM136506 CA3500907 rs767387289 |
283 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3500908 rs371084172 |
285 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375742704 COSM1064140 CA3500909 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3500911 rs753355489 |
288 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753355489 CA361682035 |
288 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs756695294 CA3500912 |
289 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778448869 CA3500913 |
292 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361682088 rs1354731496 |
296 | L>P | No |
ClinGen TOPMed |
|
|
rs1218404814 CA361682103 |
299 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA361682102 rs1218404814 |
299 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3500915 rs757954923 |
299 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323742471 CA361682117 |
301 | R>* | No |
ClinGen gnomAD |
|
|
CA3500916 rs148497345 |
301 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500917 rs536630154 |
302 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 302 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 302 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311084739 CA361682128 |
303 | Q>E | No |
ClinGen gnomAD |
|
|
CA361682138 rs1216487568 |
304 | A>G | No |
ClinGen gnomAD |
|
|
rs567317757 CA361682141 |
305 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534438478 CA3500921 |
305 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3500919 rs567317757 |
305 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567317757 CA3500920 |
305 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763282756 CA3500924 |
307 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771042750 CA129022190 |
308 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500926 rs372100607 |
308 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361682166 rs1581321365 |
309 | K>E | No |
ClinGen Ensembl |
|
|
rs376857041 CA3500946 |
312 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500947 rs376857041 |
312 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544299473 CA3500948 |
312 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765074738 CA3500949 |
313 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361682906 rs1200875957 |
314 | V>M | No |
ClinGen TOPMed |
|
|
CA3500951 rs563099593 |
318 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA129023625 rs575334807 |
318 | V>G | No |
ClinGen 1000Genomes |
|
|
CA3500950 rs563099593 |
318 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3500952 rs766151234 |
319 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500953 rs370346755 |
322 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1206851813 CA361683121 |
323 | G>V | No |
ClinGen gnomAD |
|
|
rs1581323580 CA361683139 |
324 | V>A | No |
ClinGen Ensembl |
|
|
CA3500955 rs754645271 |
325 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500954 rs754645271 |
325 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129023662 rs985353506 |
326 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA129023659 rs985353506 |
326 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs202121505 CA3500957 |
327 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500956 rs202121505 |
327 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361683238 rs1561675514 |
329 | S>T | No |
ClinGen Ensembl |
|
|
rs775982070 CA3500958 |
330 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447448808 CA361683273 |
331 | V>A | No |
ClinGen TOPMed |
|
|
CA3500959 rs749395785 |
331 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3500960 COSM1542745 rs757240110 |
332 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749735233 CA129023684 |
334 | C>R | No |
ClinGen Ensembl |
|
|
rs1445399067 CA361683363 |
335 | K>R | No |
ClinGen gnomAD |
|
|
CA3500961 rs779141585 |
337 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369801283 CA3500962 |
339 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431419657 CA361684462 |
342 | L>P | No |
ClinGen TOPMed |
|
|
CA361684479 rs1249635064 |
343 | S>F | No |
ClinGen TOPMed |
|
|
rs147685948 CA3500990 |
346 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140948067 CA3500991 |
347 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361684571 rs1441516406 |
349 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1201828831 CA361684598 |
351 | S>F | No |
ClinGen TOPMed |
|
|
rs374764113 CA3500993 |
354 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA129026107 rs947407122 |
355 | G>V | No |
ClinGen Ensembl |
|
|
rs1425064927 CA361684678 |
356 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500994 rs367680261 |
357 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367680261 CA3500995 |
357 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500997 rs758416438 |
361 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1581327377 CA361684813 |
362 | T>P | No |
ClinGen Ensembl |
|
|
rs927224116 CA129026153 |
363 | L>V | No |
ClinGen TOPMed |
|
|
rs1309162883 CA361684864 |
365 | R>C | No |
ClinGen gnomAD |
|
|
COSM1435079 rs371511486 CA3501001 |
365 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3501003 rs371043728 |
366 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501002 rs374903729 |
366 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778934003 CA3501004 |
367 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3501006 rs771439330 |
368 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176778254 CA361684969 |
370 | D>G | No |
ClinGen gnomAD |
|
| rs144806146 | 371 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367945305 CA361685013 |
372 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367945305 CA3501008 |
372 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501024 rs779490335 |
373 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs746528399 CA3501025 |
374 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs776210591 CA129026449 |
376 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323609268 CA361685272 |
379 | L>V | No |
ClinGen gnomAD |
|
|
CA361685286 rs1212234665 |
380 | A>P | No |
ClinGen gnomAD |
|
|
rs567732118 CA361685344 |
382 | L>V | No |
ClinGen TOPMed |
|
|
rs770104361 CA3501029 |
384 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773542681 CA3501030 |
386 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265649898 CA361685425 |
386 | M>V | No |
ClinGen gnomAD |
|
|
rs763509561 CA3501031 |
387 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3501033 rs774297897 |
391 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529146289 CA3501035 |
392 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3501036 rs758830317 |
392 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756369175 COSM736425 CA361685632 |
393 | K>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA129026522 rs915965700 |
393 | K>R | No |
ClinGen TOPMed |
|
|
rs200946146 CA3501039 |
396 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369601847 CA3501040 |
396 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779978586 CA3501041 |
397 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746515510 CA3501042 |
401 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361685872 rs1311491089 |
402 | K>N | No |
ClinGen gnomAD |
|
|
CA3501044 rs754464325 |
403 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3501045 rs780854910 |
403 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361685901 rs780854910 |
403 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361685916 rs1487180317 |
404 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs114156302 CA3501046 |
406 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361686019 rs1269790926 |
407 | A>V | No |
ClinGen gnomAD |
|
|
CA3501048 rs150469518 |
408 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150469518 CA361686054 |
408 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3501049 rs113355090 |
409 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs190469835 CA3501050 |
410 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755734545 CA129026692 |
412 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361686180 rs755734545 |
412 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1561678134 CA361686223 |
413 | S>C | No |
ClinGen Ensembl |
|
|
CA129026703 rs1008960794 |
414 | S>F | No |
ClinGen Ensembl |
|
|
CA3501054 rs775693791 |
416 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761039727 CA3501055 |
417 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1581328122 CA361686352 |
419 | V>G | No |
ClinGen Ensembl |
|
|
CA3501057 rs750250368 |
423 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752214720 CA3501080 |
424 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs886468464 CA129027683 |
424 | Y>H | No |
ClinGen Ensembl |
|
|
rs1472010556 CA361686652 |
425 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1206961571 CA361686663 |
426 | N>T | No |
ClinGen TOPMed |
|
|
CA361686671 rs1212468948 |
427 | V>A | No |
ClinGen TOPMed |
|
|
rs145373317 CA3501083 |
427 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501085 rs202227511 |
429 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 430 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446012702 CA361686694 |
431 | Q>P | No |
ClinGen gnomAD |
|
|
rs1446012702 CA361686695 |
431 | Q>R | No |
ClinGen gnomAD |
|
|
rs1342113678 CA361686702 |
432 | G>D | No |
ClinGen gnomAD |
|
|
CA361686708 rs1445465207 |
433 | W>* | No |
ClinGen gnomAD |
|
|
CA361686709 rs1445465207 |
433 | W>S | No |
ClinGen gnomAD |
|
|
rs772712522 CA3501087 |
435 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318823585 CA361686731 |
436 | R>C | No |
ClinGen gnomAD |
|
|
COSM1182137 CA3501088 rs137925989 |
436 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3501089 rs137925989 |
436 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501090 rs768819246 |
439 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs776542660 CA3501091 |
439 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs142599364 CA3501092 |
441 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144767683 CA3501093 |
443 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361686789 rs1236572075 |
445 | L>P | No |
ClinGen gnomAD |
|
|
CA129027767 rs996759186 |
448 | H>Q | No |
ClinGen Ensembl |
|
|
CA361686816 rs1463790507 |
449 | K>E | No |
ClinGen TOPMed |
|
|
CA129027777 rs530952682 |
452 | M>V | No |
ClinGen TOPMed |
|
|
rs1420916184 CA361686852 |
453 | D>E | No |
ClinGen gnomAD |
|
|
rs774201077 CA3501094 |
453 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968308650 CA129027784 |
455 | R>* | No |
ClinGen Ensembl |
|
|
rs769178030 CA361686861 |
455 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501095 rs769178030 |
455 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188822067 CA361686872 |
457 | H>R | No |
ClinGen TOPMed |
|
|
rs752588445 CA361686888 |
459 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760572045 CA361686890 |
460 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA3501098 rs760572045 |
460 | A>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 460 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184302710 CA361686899 |
461 | I>T | No |
ClinGen TOPMed |
|
|
rs753270486 CA3501100 |
462 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956598020 CA129027822 |
464 | Q>P | No |
ClinGen Ensembl |
|
|
CA361686921 rs1276534955 |
465 | G>S | No |
ClinGen gnomAD |
|
|
CA129027823 rs991829628 |
467 | E>K | No |
ClinGen Ensembl |
|
|
rs750817401 CA3501103 |
470 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287252219 CA361686982 |
471 | G>D | No |
ClinGen gnomAD |
|
|
CA3501105 rs780738931 |
471 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489468260 CA361687014 |
473 | G>E | No |
ClinGen gnomAD |
|
|
CA361687026 rs747558526 |
474 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501106 rs747558526 |
474 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361687037 COSM1064143 rs1260509573 |
475 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3501107 rs141357304 |
475 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361687060 rs1378829855 |
476 | H>Q | No |
ClinGen gnomAD |
|
|
rs781391759 CA3501108 |
476 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501110 rs770066358 |
480 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421216952 CA361687142 |
481 | R>K | No |
ClinGen gnomAD |
|
|
rs150788803 CA3501111 |
481 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 482 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 483 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3501112 rs745691457 |
484 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501113 rs771890549 |
484 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760661630 CA361687225 |
486 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760661630 COSM1567839 CA3501115 |
486 | R>Q | large_intestine Variant assessed as Somatic; 5.961e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3501114 rs563645015 |
486 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 488 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238364940 CA361687280 |
490 | A>T | No |
ClinGen gnomAD |
|
|
rs747660162 CA3501116 |
491 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046988710 CA129027958 |
492 | L>F | No |
ClinGen Ensembl |
|
|
rs866337112 CA129027959 |
493 | E>G | No |
ClinGen Ensembl |
|
|
rs1464573730 CA361688657 |
494 | A>T | No |
ClinGen gnomAD |
|
|
CA3501131 rs138161521 |
497 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501132 rs746741946 |
500 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs143811672 CA3501133 |
502 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150887335 CA3501134 |
502 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1581331551 CA361688831 |
503 | W>S | No |
ClinGen Ensembl |
|
|
rs761420859 COSM1435080 CA3501136 CA3501135 |
505 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs766126525 CA3501139 |
509 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361688903 rs766126525 |
509 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501138 rs762753963 |
509 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3501141 rs140803806 |
511 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361688973 rs755246902 |
512 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475030684 CA361688962 |
512 | G>S | No |
ClinGen gnomAD |
|
|
rs755246902 CA3501142 |
512 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768553172 CA3501143 |
514 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501145 rs756618620 |
515 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs144869609 CA3501144 |
515 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777886501 CA3501146 |
517 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361689049 rs1463587865 |
518 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 518 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361689069 COSM1064145 rs1413854340 |
519 | A>V | Variant assessed as Somatic; 9.248e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3501150 rs370935371 |
522 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501152 rs781010015 |
525 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774447607 CA129028995 |
526 | D>H | No |
ClinGen Ensembl |
|
|
CA3501153 rs748085177 |
529 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 531 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375480737 CA3501155 |
534 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762492844 CA3501156 |
535 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3501159 rs759195126 |
538 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767817113 CA3501160 |
538 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA129029041 rs1009572605 |
539 | N>D | No |
ClinGen Ensembl |
|
|
CA3501161 rs753088820 |
541 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs753088820 CA129029063 |
541 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA361689526 rs1561680157 |
542 | L>P | No |
ClinGen Ensembl |
|
|
CA129029597 rs368687649 |
543 | Y>C | No |
ClinGen Ensembl |
|
|
CA3501181 rs759164763 |
546 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1242570926 CA361689895 |
546 | S>Y | No |
ClinGen TOPMed |
|
|
rs1437911735 CA361689949 |
549 | N>H | No |
ClinGen gnomAD |
|
|
CA361689977 rs1581332500 |
550 | Q>R | No |
ClinGen Ensembl |
|
|
CA361690016 rs1561680467 |
551 | W>* | No |
ClinGen Ensembl |
|
|
CA3501182 rs148550254 |
553 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361690046 rs1377854588 |
553 | E>K | No |
ClinGen TOPMed |
|
|
rs543890907 CA3501183 |
554 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs895245879 CA129029620 |
555 | R>* | No |
ClinGen TOPMed |
|
|
rs895245879 CA361690089 |
555 | R>G | No |
ClinGen TOPMed |
|
|
rs761044831 COSM1696534 CA3501184 |
555 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs764609464 CA3501185 |
557 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1223500463 CA361690191 |
559 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361690166 rs1348259951 |
559 | D>H | No |
ClinGen gnomAD |
|
|
rs754306758 CA3501186 |
560 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs796393639 CA129029672 |
561 | P>A | No |
ClinGen Ensembl |
|
|
CA3501187 rs762281011 |
565 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361690295 rs1323599734 |
565 | M>L | No |
ClinGen gnomAD |
|
|
CA361690309 rs1420083555 |
566 | Q>* | No |
ClinGen TOPMed |
|
|
CA361690509 rs1432091867 |
567 | D>G | No |
ClinGen TOPMed |
|
|
rs776961879 CA3501203 |
568 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409192208 CA361690529 |
570 | P>S | No |
ClinGen gnomAD |
|
|
CA129030753 rs368895712 |
571 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1413236796 CA361690540 |
571 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3501205 rs368895712 |
571 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3501206 rs765027464 |
572 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361690542 rs765027464 |
572 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM449079 CA3501207 rs559848026 |
572 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA129030756 rs112109404 |
573 | P>S | No |
ClinGen gnomAD |
|
|
rs533485095 CA3501209 |
574 | T>R | No |
ClinGen 1000Genomes |
|
|
rs755228683 CA3501212 |
575 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3501211 rs200188866 |
575 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222650442 CA361690560 |
576 | A>P | No |
ClinGen TOPMed |
|
|
CA361690561 rs1222650442 |
576 | A>S | No |
ClinGen TOPMed |
|
|
CA3501214 rs753677088 |
577 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA361690568 rs753677088 |
577 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs975374389 CA129030784 |
578 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA129030781 rs975374389 |
578 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA129030787 rs1021713107 |
579 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA129030793 rs969182346 |
580 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA129030797 rs969182346 |
580 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs142984867 CA3501215 |
580 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA129030815 rs142984867 |
580 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745394391 CA3501217 |
582 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361690635 COSM1292053 rs1432566362 |
584 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3501219 rs779403937 |
585 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA3501220 rs746717306 |
586 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501221 rs367849937 |
587 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277053335 CA361690718 |
589 | S>F | No |
ClinGen gnomAD |
|
|
rs114805975 CA3501224 |
591 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361690739 rs114805975 |
591 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3501226 rs773726334 |
591 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501225 rs773726334 |
591 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501223 rs114805975 |
591 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1273962377 CA361690759 |
592 | V>A | No |
ClinGen gnomAD |
|
|
rs1462748577 CA361690751 |
592 | V>M | No |
ClinGen TOPMed |
|
|
rs766528754 CA129030878 CA3501227 |
593 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs774281613 CA3501228 |
594 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501231 rs140123570 |
595 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1259129717 CA361690799 |
595 | Q>P | No |
ClinGen gnomAD |
|
|
CA3501232 rs761648741 |
597 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765120072 CA3501233 |
600 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750418239 CA3501234 |
600 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs758249512 CA3501235 |
601 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172823687 CA361690891 |
601 | H>Y | No |
ClinGen gnomAD |
|
|
CA3501236 rs779676346 |
602 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1684938 rs779676346 CA3501237 |
602 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA129030889 rs948398666 |
602 | A>V | No |
ClinGen Ensembl |
|
|
CA3501238 rs754630140 |
603 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA361692334 rs1458503583 |
604 | S>I | No |
ClinGen gnomAD |
|
|
rs1341212169 CA361692348 |
605 | A>V | No |
ClinGen TOPMed |
|
|
CA129033791 rs1016179752 |
606 | N>K | No |
ClinGen Ensembl |
|
|
rs879682977 CA129033781 |
606 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA129033794 rs1009039140 |
607 | Q>L | No |
ClinGen TOPMed |
|
|
CA361692398 rs1360645319 |
608 | Y>H | No |
ClinGen TOPMed |
|
|
rs1392352894 CA361692422 |
609 | K>Q | No |
ClinGen gnomAD |
|
|
rs774573297 CA3501245 |
610 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs868298641 CA129033802 |
611 | G>D | No |
ClinGen Ensembl |
|
|
rs143981577 CA3501246 |
614 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361692542 rs201232986 |
614 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201232986 CA3501248 |
614 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501249 rs536498859 |
615 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750175676 CA3501251 |
616 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501252 rs763014850 |
618 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754437444 CA3501255 |
620 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501254 COSM345722 rs146466860 |
620 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1258569403 CA361692678 |
621 | R>K | No |
ClinGen gnomAD |
|
|
rs1258569403 CA361692684 |
621 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1258569403 CA361692681 |
621 | R>T | No |
ClinGen gnomAD |
|
|
CA3501256 rs199896142 |
625 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041343339 CA129033883 |
631 | K>R | No |
ClinGen Ensembl |
|
|
rs755708543 CA3501260 |
635 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs938461447 CA129033896 |
636 | I>V | No |
ClinGen Ensembl |
|
|
rs144633252 CA3501262 |
637 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220707446 CA361692938 |
637 | R>W | No |
ClinGen TOPMed |
|
|
CA3501263 rs566787267 |
641 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745973835 CA3501265 |
643 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 645 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361693133 rs1232102844 |
652 | E>V | No |
ClinGen gnomAD |
|
|
CA129033936 rs372090261 |
655 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3501270 rs148869095 |
657 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762598251 CA3501271 |
658 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361693179 rs762598251 |
658 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483453740 CA361693181 |
659 | G>R | No |
ClinGen gnomAD |
|
|
CA129035663 rs913622766 |
665 | L>P | No |
ClinGen Ensembl |
|
|
rs749141691 CA3501288 |
668 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3501290 rs774118382 |
669 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501291 rs61744033 |
670 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361693937 rs61744033 |
670 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427973358 CA361693978 |
673 | E>D | No |
ClinGen gnomAD |
|
|
rs143616929 CA3501293 |
674 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361693994 rs1432323924 |
676 | C>R | No |
ClinGen TOPMed |
|
|
rs369805051 CA3501296 |
677 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3501295 rs578005088 |
677 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415495488 CA361694011 |
679 | K>E | No |
ClinGen TOPMed |
|
|
CA3501298 rs765756118 |
680 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs905016709 CA129035712 |
681 | E>D | No |
ClinGen TOPMed |
|
|
COSM1696536 rs764602529 CA3501299 |
682 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3501300 rs758979101 |
682 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148055999 CA3501302 |
683 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501301 rs780653431 |
683 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA129035741 rs1006185616 |
684 | I>T | No |
ClinGen Ensembl |
|
|
rs1470258321 CA361694054 |
686 | L>V | No |
ClinGen gnomAD |
|
|
CA3501304 rs781303670 |
687 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188140722 CA361694087 |
691 | V>A | No |
ClinGen TOPMed |
|
|
CA361694088 rs1188140722 |
691 | V>G | No |
ClinGen TOPMed |
|
|
CA129035749 rs77253539 |
693 | V>A | No |
ClinGen 1000Genomes |
|
|
CA361694099 rs77253539 |
693 | V>G | No |
ClinGen 1000Genomes |
|
|
CA361694095 rs1463628851 |
693 | V>M | No |
ClinGen TOPMed |
|
|
rs1409647089 CA361694111 |
695 | E>A | No |
ClinGen gnomAD |
|
|
rs143874204 CA3501306 |
696 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3501307 rs147244122 |
696 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147244122 CA361694118 |
696 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376381928 CA3501308 |
699 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772019234 CA3501309 |
700 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393474000 CA361694164 |
704 | G>R | No |
ClinGen gnomAD |
|
|
rs760627807 CA3501311 |
708 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775249585 CA3501310 |
708 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3501313 rs138982513 |
709 | L>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs375783242 CA3501314 |
709 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370140768 COSM1182135 CA3501316 |
711 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3501317 rs763364661 |
713 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3501318 rs766943760 |
714 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1231506226 CA361694231 |
715 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361694235 rs1449398712 |
716 | K>E | No |
ClinGen TOPMed |
|
|
rs781193704 CA3501321 |
718 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577826537 CA3501331 |
719 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3501332 rs769596666 |
720 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501335 rs762666175 |
727 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3501334 rs762666175 |
727 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3501337 rs143117370 |
728 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3501338 rs150842858 |
729 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361694752 rs1433506314 |
732 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1433506314 CA361694750 |
732 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3501339 rs752792827 |
733 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3501340 rs756145835 |
734 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339162672 CA361694774 |
734 | P>S | No |
ClinGen gnomAD |
|
|
CA3501341 rs200333882 |
735 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA129037551 rs200333882 |
735 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA361694795 rs1214903801 |
736 | N>S | No |
ClinGen TOPMed |
|
|
CA361694800 rs1349663422 |
737 | C>R | No |
ClinGen gnomAD |
|
|
CA3501342 rs754106479 |
737 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA361694841 rs1199393321 |
740 | E>G | No |
ClinGen gnomAD |
|
|
rs1447013460 CA361694862 |
742 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA129037572 rs1039423918 |
743 | K>N | No |
ClinGen Ensembl |
|
|
CA129037581 rs1004991707 |
745 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779781187 CA3501345 |
745 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3501346 rs746753250 |
746 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 746 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361694916 rs1174076021 |
747 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768491851 CA3501347 |
748 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3501348 rs150030700 |
749 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3501349 rs747696538 |
750 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402469927 CA361694968 |
753 | Q>* | No |
ClinGen gnomAD |
|
|
CA129037630 rs775221392 |
754 | G>R | No |
ClinGen gnomAD |
|
|
rs199767123 CA3501350 |
755 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749013480 CA3501352 |
758 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 758 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369236115 CA361695000 |
758 | Q>L | No |
ClinGen gnomAD |
|
|
rs1381920874 CA361669728 |
762 | E>K | No |
ClinGen TOPMed |
|
|
rs1327785815 CA361669743 |
763 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA129005534 rs561461722 |
764 | E>Q | No |
ClinGen Ensembl |
|
|
rs1561690107 CA361669754 |
765 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 767 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3501370 rs770509254 |
769 | T>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8TED9
2 regional properties for Q8TED9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pleckstrin homology domain | 220 - 318 | IPR001849-1 |
| domain | Pleckstrin homology domain | 418 - 514 | IPR001849-2 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BZI0 | Afap1l1 | Actin filament-associated protein 1-like 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDRGQVLEQL | LPELTGLLSL | LDHEYLSDTT | LEKKMAVASI | LQSLQPLPAK | EVSYLYVNTA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLHSGPSFVE | SLFEEFDCDL | SDLRDMPEDD | GEPSKGASPE | LAKSPRLRNA | ADLPPPLPNK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPPEDYYEEA | LPLGPGKSPE | YISSHNGCSP | SHSIVDGYYE | DADSSYPATR | VNGELKSSYN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSDAMSSSYE | SYDEEEEEGK | SPQPRHQWPS | EEASMHLVRE | CRICAFLLRK | KRFGQWAKQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVIREDQLLC | YKSSKDRQPH | LRLALDTCSI | IYVPKDSRHK | RHELRFTQGA | TEVLVLALQS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| REQAEEWLKV | IREVSKPVGG | AEGVEVPRSP | VLLCKLDLDK | RLSQEKQTSD | SDSVGVGDNC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STLGRRETCD | HGKGKKSSLA | ELKGSMSRAA | GRKITRIIGF | SKKKTLADDL | QTSSTEEEVP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CCGYLNVLVN | QGWKERWCRL | KCNTLYFHKD | HMDLRTHVNA | IALQGCEVAP | GFGPRHPFAF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RILRNRQEVA | ILEASCSEDM | GRWLGLLLVE | MGSRVTPEAL | HYDYVDVETL | TSIVSAGRNS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FLYARSCQNQ | WPEPRVYDDV | PYEKMQDEEP | ERPTGAQVKR | HASSCSEKSH | RVDPQVKVKR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HASSANQYKY | GKNRAEEDAR | RYLVEKEKLE | KEKETIRTEL | IALRQEKREL | KEAIRSSPGA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLKALEEAVA | TLEAQCRAKE | ERRIDLELKL | VAVKERLQQS | LAGGPALGLS | VSSKPKSGET |
| 730 | 740 | 750 | 760 | ||
| ANKPQNSVPE | QPLPVNCVSE | LRKRSPSIVA | SNQGRVLQKA | KEWEMKKT |