Q969Y0
PR
Gene name |
NXPE3 (FAM55C, MSTP115, UNQ5791/PRO19596) |
Protein name |
NXPE family member 3 |
Names |
Protein FAM55C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91775 |
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 Q969Y0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q969Y0-F1 | Predicted | AlphaFoldDB |
444 variants for Q969Y0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2522374 rs748349828 |
2 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2522375 rs772074966 |
4 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA79782145 rs946920144 |
5 | F>C | No |
ClinGen gnomAD |
|
|
rs777876100 CA2522376 |
5 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA353885946 rs1404769278 |
6 | F>L | No |
ClinGen gnomAD |
|
|
rs1207474008 CA353885965 |
7 | K>R | No |
ClinGen gnomAD |
|
|
CA353885972 rs1290616473 |
8 | L>V | No |
ClinGen gnomAD |
|
|
CA2522379 rs775332489 |
9 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353885983 rs1167590131 |
9 | R>W | No |
ClinGen TOPMed |
|
|
CA2522380 rs199652653 |
10 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301645750 CA353886018 |
11 | F>S | No |
ClinGen gnomAD |
|
|
CA353886027 rs1225536438 |
12 | C>S | No |
ClinGen gnomAD |
|
|
CA79782203 rs985688050 |
12 | C>Y | No |
ClinGen TOPMed |
|
|
rs773899326 CA2522382 |
13 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322984165 CA353886056 |
13 | C>S | No |
ClinGen gnomAD |
|
|
CA353886081 rs1187660677 |
15 | L>F | No |
ClinGen TOPMed |
|
|
rs1186314457 CA353886125 |
18 | L>F | No |
ClinGen gnomAD |
|
|
rs372545818 CA79782216 |
19 | M>V | No |
ClinGen ESP |
|
|
rs766978853 CA2522386 |
21 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522387 rs199500276 |
22 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353886223 rs1273542764 |
22 | V>M | No |
ClinGen TOPMed |
|
|
rs563663382 CA79782240 |
24 | V>L | No |
ClinGen Ensembl |
|
|
CA2522389 rs766994227 |
25 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150533214 CA2522390 |
26 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 27 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353886322 rs1160567928 |
29 | Q>R | No |
ClinGen gnomAD |
|
|
CA353886341 rs1343378590 |
31 | E>K | No |
ClinGen gnomAD |
|
|
rs760055457 CA353887322 |
32 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522409 rs765568343 |
34 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522410 rs753091084 |
37 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs988200276 CA79788527 |
39 | S>A | No |
ClinGen Ensembl |
|
|
CA2522411 rs200828649 |
41 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199917885 CA2522412 |
42 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291438155 CA353887414 |
42 | F>V | No |
ClinGen gnomAD |
|
|
CA2522414 rs139375291 |
44 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353887434 rs139375291 |
44 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469234935 CA353887462 |
46 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1259079764 CA353887484 |
48 | Q>L | No |
ClinGen TOPMed |
|
|
rs1183665524 CA353887493 |
49 | F>L | No |
ClinGen gnomAD |
|
|
CA353887491 rs1183665524 |
49 | F>V | No |
ClinGen gnomAD |
|
|
CA2522416 rs749266868 |
51 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs754923077 CA2522417 |
52 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA79788590 rs555163322 |
53 | Q>H | No |
ClinGen Ensembl |
|
|
rs1045786849 CA79788552 |
53 | Q>R | No |
ClinGen TOPMed |
|
|
rs778634770 CA2522418 |
55 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1396896433 CA353887544 |
55 | T>I | No |
ClinGen gnomAD |
|
|
rs771702824 CA2522420 |
56 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522421 rs551278520 |
58 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747172331 CA79788607 |
59 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746616239 CA2522422 |
59 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353887586 rs1357422565 |
60 | N>S | No |
ClinGen TOPMed |
|
|
rs150029845 CA353887597 |
61 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2522423 rs150029845 |
61 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1244369204 CA353887605 |
62 | Y>F | No |
ClinGen gnomAD |
|
|
rs145317645 CA79788640 |
63 | C>R | No |
ClinGen ESP |
|
|
rs1340559541 CA353887634 |
65 | Y>C | No |
ClinGen gnomAD |
|
|
CA2522424 rs776256654 |
65 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA353887640 rs1270532243 |
66 | D>H | No |
ClinGen gnomAD |
|
|
CA353887654 rs1436798372 |
67 | Q>* | No |
ClinGen gnomAD |
|
|
CA2522425 rs760019371 |
67 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs931496600 CA79788646 |
68 | Q>R | No |
ClinGen gnomAD |
|
|
rs765770597 CA2522426 |
69 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1287800428 CA353887687 |
70 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 72 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522429 rs764394821 |
74 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2522431 rs751813349 COSM1035849 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs141442938 COSM1035850 CA2522432 |
75 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA79788657 rs141442938 |
75 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141442938 CA2522433 |
75 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA79788681 rs750507229 |
76 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522434 rs750507229 |
76 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994756482 CA79788685 |
78 | E>A | No |
ClinGen TOPMed |
|
|
CA353887762 rs1408438809 |
78 | E>K | No |
ClinGen gnomAD |
|
|
rs754942190 CA2522435 |
79 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs908998923 CA79788693 |
80 | S>F | No |
ClinGen Ensembl |
|
|
rs1327528029 CA353887786 |
80 | S>P | No |
ClinGen gnomAD |
|
|
rs747983081 CA2522437 |
81 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2522438 rs375011498 |
83 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1264586913 CA353887813 |
83 | A>V | No |
ClinGen gnomAD |
|
|
CA353887819 rs1474607254 |
84 | A>V | No |
ClinGen TOPMed |
|
|
rs955836541 CA79788708 |
85 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143859535 CA2522442 |
87 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143859535 CA2522443 |
87 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368982090 CA2522441 |
87 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2522446 rs769127796 |
88 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs1553800901 CA2522444 |
88 | Q>R | No |
ClinGen Ensembl |
|
|
rs776087547 CA2522447 |
89 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763331084 CA2522448 |
89 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs776087547 CA353887854 |
89 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522449 rs764484594 |
90 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200020821 CA2522450 |
91 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267599518 CA353887912 |
96 | P>A | No |
ClinGen TOPMed |
|
|
CA79788740 COSM1693107 rs267599518 |
96 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1576753860 CA353887920 |
97 | F>L | No |
ClinGen Ensembl |
|
|
rs1316726235 CA353887932 |
98 | V>L | No |
ClinGen gnomAD |
|
|
rs767725497 CA2522452 |
100 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522453 rs377253159 |
100 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2522454 rs756236529 |
102 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2522455 rs370390072 |
103 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260749352 CA353887993 |
104 | S>F | No |
ClinGen gnomAD |
|
|
rs752716984 CA2522456 |
105 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1283443631 CA353888020 |
107 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777766301 CA2522458 |
112 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA79788775 rs1045411888 |
116 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1201313847 CA353888114 |
117 | F>I | No |
ClinGen gnomAD |
|
|
rs1479546207 CA353888141 |
119 | V>L | No |
ClinGen gnomAD |
|
|
rs1364419789 CA353888155 |
120 | G>A | No |
ClinGen gnomAD |
|
|
CA353888157 rs1471184892 |
121 | S>G | No |
ClinGen gnomAD |
|
|
rs780911672 CA2522461 |
121 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2522462 rs745462350 |
123 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2522463 rs769378572 |
126 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779401915 CA2522464 |
127 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA353888310 rs1363350994 |
136 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 139 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522466 rs769141055 |
140 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs913047792 CA79788784 |
140 | G>S | No |
ClinGen TOPMed |
|
|
CA2522467 rs774767986 |
142 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2522468 rs762174735 |
143 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522470 rs376143782 |
146 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353888406 rs1359984713 |
146 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353888407 rs1359984713 |
146 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1359984713 CA353888405 |
146 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353888417 rs1289265228 |
147 | R>I | No |
ClinGen gnomAD |
|
|
CA2522471 rs371091835 |
149 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs863223380 RCV000201321 |
151 | L>missing | No |
ClinVar dbSNP |
|
|
CA353888471 rs1209514508 |
152 | K>R | No |
ClinGen gnomAD |
|
|
rs1000688250 CA79788811 |
154 | Q>* | No |
ClinGen Ensembl |
|
|
rs1421022447 CA353888491 |
154 | Q>H | No |
ClinGen gnomAD |
|
|
rs950049078 CA353888489 |
154 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs950049078 CA79788815 |
154 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs863223381 RCV000201360 |
155 | A>missing | No |
ClinVar dbSNP |
|
|
rs1045669817 CA79788821 |
155 | A>D | No |
ClinGen TOPMed |
|
|
CA353888494 rs1179748822 |
155 | A>T | No |
ClinGen gnomAD |
|
|
CA2522472 rs766526706 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1225481440 CA353888520 |
158 | V>M | No |
ClinGen TOPMed |
|
|
rs1165894745 CA353888541 |
160 | R>G | No |
ClinGen gnomAD |
|
|
rs1576754316 CA353888557 |
161 | V>G | No |
ClinGen Ensembl |
|
|
CA353888569 rs1576754351 |
162 | V>G | No |
ClinGen Ensembl |
|
|
CA2522474 rs781017668 |
164 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298448601 CA353888617 |
166 | N>K | No |
ClinGen gnomAD |
|
|
CA353888620 rs1398180334 |
167 | G>R | No |
ClinGen gnomAD |
|
|
rs1388159202 CA353888663 |
170 | K>N | No |
ClinGen gnomAD |
|
|
rs1032389873 CA79788833 |
170 | K>R | No |
ClinGen Ensembl |
|
|
CA2522475 rs763050092 |
172 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522476 rs764131420 |
174 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751485137 CA2522477 |
175 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs375395786 CA79788850 |
178 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA79788853 rs1038350374 |
181 | V>I | No |
ClinGen TOPMed |
|
|
rs1320947308 CA353888792 |
183 | V>I | No |
ClinGen gnomAD |
|
|
rs1227876252 CA353888803 |
184 | S>Y | No |
ClinGen gnomAD |
|
|
rs201611335 CA2522480 COSM3660059 |
185 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755702543 CA2522481 |
188 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1372082372 CA353888861 |
190 | P>L | No |
ClinGen TOPMed |
|
|
CA353888870 rs1461799946 |
191 | S>R | No |
ClinGen gnomAD |
|
|
CA353888879 rs1186016290 |
192 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1423663748 CA353888911 |
196 | V>I | No |
ClinGen gnomAD |
|
|
CA353888920 rs1171484138 |
197 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353888922 rs1171484138 |
197 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2522484 rs768091800 |
199 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522485 rs143729248 |
199 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA353888945 rs143729248 |
199 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367754464 CA2522486 |
201 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406225807 CA353888962 |
201 | Q>R | No |
ClinGen gnomAD |
|
|
CA79788885 rs200918733 |
202 | E>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA79788888 rs200918733 |
202 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs370550526 CA2522487 |
203 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761013796 CA79788908 |
206 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA353889008 rs1480357740 |
206 | D>G | No |
ClinGen TOPMed |
|
|
CA2522489 rs773424888 |
206 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA353889017 rs1309513571 |
207 | R>K | No |
ClinGen gnomAD |
|
|
CA2522491 rs771052889 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1235758990 CA353889025 |
208 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA79788910 rs975676156 |
209 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2522492 rs776844767 |
210 | F>S | No |
ClinGen ExAC |
|
|
CA2522494 rs765359813 |
212 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751579719 CA353889068 |
212 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs751579719 CA2522495 |
212 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761812195 CA2522496 |
213 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2522497 rs767395513 |
214 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353889095 rs1187494280 |
215 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2522499 COSM3426842 rs746081450 |
215 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2522500 rs746081450 |
215 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353889103 rs1477029472 |
216 | S>* | No |
ClinGen gnomAD |
|
|
rs1192552213 CA353889117 |
218 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353889122 rs1429541585 |
218 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA79788948 rs373676788 |
220 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs549028239 CA2522501 |
222 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs573446827 CA79788950 |
225 | C>G | No |
ClinGen Ensembl |
|
|
rs1028612356 CA79788951 |
226 | N>D | No |
ClinGen Ensembl |
|
|
CA79788952 rs199892236 |
226 | N>S | No |
ClinGen Ensembl |
|
|
rs1481436021 CA353889211 |
227 | V>G | No |
ClinGen gnomAD |
|
|
rs754510979 CA353889205 |
227 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754510979 CA2522502 COSM1035854 |
227 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA79788957 rs908927032 |
230 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353889240 rs908927032 |
230 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2522505 rs758815650 |
233 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353889275 rs1399149726 |
234 | P>L | No |
ClinGen gnomAD |
|
|
CA2522507 rs746638156 |
237 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA353889300 rs1225442409 |
237 | N>S | No |
ClinGen gnomAD |
|
|
CA353889326 rs1266124249 |
239 | T>I | No |
ClinGen gnomAD |
|
|
CA353889333 rs1276532906 |
240 | D>G | No |
ClinGen gnomAD |
|
|
rs776545742 CA2522509 |
241 | L>F | No |
ClinGen ExAC |
|
|
CA353889354 rs1173363325 |
242 | Y>F | No |
ClinGen TOPMed |
|
|
rs745697319 CA2522510 |
243 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769814229 CA353889364 |
243 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769814229 CA2522511 |
243 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972115673 CA79788971 |
247 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2522513 rs775589660 |
248 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522514 rs772461123 |
253 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772461123 CA79788972 |
253 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775971828 CA2522515 |
254 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773405177 CA2522516 |
254 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1419128750 CA353889444 |
255 | L>F | No |
ClinGen gnomAD |
|
|
CA2522517 rs760791122 |
257 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766669488 CA2522518 |
257 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2522519 rs747396776 |
258 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA79788981 rs747396776 |
258 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2522520 rs755360990 |
260 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs765677856 CA2522521 |
261 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs865798800 CA353889491 |
262 | T>I | No |
ClinGen gnomAD |
|
|
rs865798800 CA79788983 |
262 | T>N | No |
ClinGen gnomAD |
|
|
rs148108023 CA2522522 |
262 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2522524 rs201056771 |
264 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759012798 CA2522523 |
264 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746579624 CA2522525 |
266 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1216365872 CA353889519 |
267 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs140976351 CA79788995 |
268 | Y>C | No |
ClinGen ESP |
|
|
CA353889563 rs1245753301 |
274 | T>A | No |
ClinGen gnomAD |
|
|
CA2522527 rs781022980 |
274 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2522528 rs781022980 |
274 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA79789007 rs375557339 |
275 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs909642388 CA79789016 |
277 | E>D | No |
ClinGen Ensembl |
|
|
rs1164013292 CA353889580 |
277 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775499698 CA2522530 |
277 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353889585 rs1386905230 |
278 | S>G | No |
ClinGen gnomAD |
|
|
CA2522531 rs150145477 |
278 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353889602 rs1321895439 CA353889603 |
280 | F>L | No |
ClinGen gnomAD |
|
|
rs1226831603 CA353889597 |
280 | F>V | No |
ClinGen Ensembl |
|
|
rs1387680081 CA353889617 |
282 | Q>L | No |
ClinGen TOPMed |
|
|
rs1037978326 CA79791017 |
284 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1296806159 CA353889642 |
284 | G>S | No |
ClinGen gnomAD |
|
|
rs778935784 CA2522550 |
286 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 289 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216003101 CA353889721 |
295 | G>V | No |
ClinGen gnomAD |
|
|
CA353889745 rs1316823626 |
298 | W>C | No |
ClinGen gnomAD |
|
|
rs759743872 CA2522554 |
305 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2522555 rs770052804 |
308 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1362952354 CA353885097 |
311 | S>C | No |
ClinGen TOPMed |
|
|
CA2522577 rs745988821 |
315 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs769964471 COSM727519 CA353885256 |
316 | Q>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769964471 CA2522578 |
316 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296677988 CA353885289 |
316 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140150886 RCV000201414 CA210227 |
319 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA79769611 rs12639568 |
319 | G>R | No |
ClinGen Ensembl |
|
|
CA2522579 rs749556053 |
320 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1167244802 CA353885384 |
320 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353885422 rs1387067609 |
322 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1231880056 CA353885479 |
325 | Y>H | No |
ClinGen gnomAD |
|
|
rs774644213 CA2522581 |
328 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762394575 CA2522583 |
329 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223566216 CA353885570 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
rs1186902165 CA353885579 |
331 | W>L | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353885600 rs1488524615 |
334 | R>T | No |
ClinGen TOPMed |
|
|
CA353885623 rs1560065386 |
337 | K>R | No |
ClinGen Ensembl |
|
|
COSM1206382 CA2522586 rs147008534 |
339 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760288885 CA2522587 |
339 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353885639 rs760288885 |
339 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234596445 CA353885658 |
342 | N>D | No |
ClinGen TOPMed |
|
|
CA353885661 rs1442039721 |
342 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1311505897 CA353885671 |
343 | D>E | No |
ClinGen gnomAD |
|
|
rs528258869 CA79769720 |
345 | D>G | No |
ClinGen 1000Genomes |
|
|
CA2522588 rs765894012 |
346 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs878908176 CA79769727 |
346 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353885698 rs1425669574 |
347 | I>V | No |
ClinGen gnomAD |
|
|
rs1355732850 CA353885750 |
353 | R>K | No |
ClinGen gnomAD |
|
|
rs765071057 CA2522591 |
356 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA353885785 rs1560065534 |
357 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1316830865 CA353885803 |
359 | F>C | No |
ClinGen TOPMed |
|
|
CA353885799 rs1308381248 |
359 | F>L | No |
ClinGen gnomAD |
|
|
CA353885826 rs1359905484 |
362 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400578469 CA353885855 |
365 | R>M | No |
ClinGen TOPMed |
|
|
rs758301789 CA2522594 |
369 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353885973 rs1196596062 |
371 | L>F | No |
ClinGen Ensembl |
|
|
CA2522596 rs745900036 |
372 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA79769760 rs376629391 |
373 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 374 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353886088 rs1417394216 |
374 | F>S | No |
ClinGen TOPMed |
|
|
CA79769784 rs137946275 |
375 | V>G | No |
ClinGen ESP |
|
|
CA353886177 rs1177333163 |
376 | P>A | No |
ClinGen gnomAD |
|
|
CA353886189 rs1238036097 |
376 | P>L | No |
ClinGen gnomAD |
|
|
CA353886808 rs1483853797 |
377 | D>A | No |
ClinGen gnomAD |
|
|
rs1033518588 CA79771867 |
380 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1033518588 CA353886831 |
380 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1354218686 CA353886836 |
381 | F>L | No |
ClinGen TOPMed |
|
|
rs776065353 CA2522609 |
382 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 384 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353886860 rs1560069652 |
384 | G>D | No |
ClinGen Ensembl |
|
|
CA353886871 rs1425243770 |
386 | P>T | No |
ClinGen gnomAD |
|
|
CA353886889 rs1463666242 |
388 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA79771882 rs1009882535 |
389 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA79771891 rs1019927195 |
390 | G>V | No |
ClinGen Ensembl |
|
|
CA2522611 rs764839422 |
391 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2522613 rs758213453 |
392 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA79771903 rs372755782 |
396 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353886968 rs376234770 |
400 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376234770 CA79771906 |
400 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751502260 CA2522615 |
403 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2522616 rs757207291 |
404 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1212890427 CA353886999 |
405 | Y>C | No |
ClinGen gnomAD |
|
|
rs1212890427 CA353886998 |
405 | Y>S | No |
ClinGen gnomAD |
|
|
rs547768037 CA2522617 |
406 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149452985 CA353887005 |
406 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149452985 CA2522618 |
406 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353887020 rs1217802735 |
408 | H>R | No |
ClinGen gnomAD |
|
|
CA353887037 rs1560069879 |
411 | P>S | No |
ClinGen Ensembl |
|
|
CA353887042 COSM70718 rs1264956930 |
412 | I>V | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs143967067 CA2522619 |
413 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2522620 rs779031147 |
413 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353887053 rs1425295121 |
414 | F>L | No |
ClinGen gnomAD |
|
|
CA353887065 rs1233116813 |
415 | T>M | No |
ClinGen TOPMed |
|
|
rs1376998674 CA353887070 |
416 | T>S | No |
ClinGen gnomAD |
|
|
rs1376435710 CA353887074 |
417 | V>L | No |
ClinGen TOPMed |
|
|
rs1262917148 CA353887088 |
419 | S>N | No |
ClinGen Ensembl |
|
|
rs373122882 CA2522625 |
419 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377569267 CA2522626 |
420 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs917930136 CA79771955 |
421 | E>D | No |
ClinGen Ensembl |
|
|
CA353887100 rs1407965528 |
421 | E>K | No |
ClinGen TOPMed |
|
|
rs200023533 CA2522627 |
422 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs35598292 CA2522628 |
423 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2522629 rs775137955 |
424 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2522630 COSM3766828 rs139135706 |
426 | A>V | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353887147 rs1464822155 |
428 | E>* | No |
ClinGen gnomAD |
|
|
rs141185345 CA2522632 |
430 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 431 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522634 COSM1035856 rs761784698 |
431 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2522633 rs761784698 |
431 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753911382 CA2522635 |
438 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA353887214 rs1246866754 |
438 | T>I | No |
ClinGen gnomAD |
|
|
CA353887211 rs753911382 |
438 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2522638 rs752967344 |
440 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs548864461 CA2522637 |
440 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758753450 CA353887229 |
441 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2522639 rs758753450 |
441 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1378278868 CA353887231 |
442 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353887243 rs1418804267 |
444 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353887260 rs1576790511 |
446 | S>A | No |
ClinGen Ensembl |
|
|
CA353887282 rs1350682544 |
449 | S>G | No |
ClinGen gnomAD |
|
|
CA353887292 rs1462404053 |
450 | T>S | No |
ClinGen TOPMed |
|
|
rs747375688 CA2522641 |
455 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570084480 CA2522642 |
457 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1053325782 CA79772006 |
457 | I>T | No |
ClinGen TOPMed |
|
|
CA2522644 rs745327151 |
458 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2522643 rs781572583 |
458 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374457110 CA2522645 |
459 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914301439 CA79772023 |
459 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 461 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353005862 CA353887505 |
463 | I>M | No |
ClinGen TOPMed |
|
|
rs775048030 CA2522646 |
463 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2522648 rs762578763 |
464 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200277463 CA79772040 |
464 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200277463 CA2522649 |
464 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3800839 rs774098111 CA2522650 |
465 | R>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs150669329 CA2522651 |
465 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2522655 rs765398777 |
469 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760736754 CA2522654 |
469 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353887604 rs1466152941 |
470 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285126971 CA353887643 |
472 | D>G | No |
ClinGen gnomAD |
|
|
rs778173816 CA2522658 |
472 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778173816 CA2522659 |
472 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs901519570 CA79772066 |
473 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757576746 CA2522660 |
473 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200832757 CA79772070 |
475 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2522662 rs759567920 |
476 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779515254 CA2522664 |
478 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353887759 rs1264315127 |
479 | V>A | No |
ClinGen TOPMed |
|
|
rs1180347795 CA353887777 |
480 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 481 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522667 rs201325874 |
482 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552589678 CA2522666 |
482 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2522668 rs747915827 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs140128269 CA2522669 |
483 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760510105 CA2522671 |
484 | A>P | No |
ClinGen ExAC |
|
|
rs766462727 CA2522673 |
485 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766462727 CA2522672 |
485 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446190351 CA353887865 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764354286 CA2522675 |
487 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs886354615 CA79772109 |
488 | E>G | No |
ClinGen TOPMed |
|
|
rs767759644 CA2522678 |
494 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA79772119 rs775706577 |
495 | L>V | No |
ClinGen Ensembl |
|
|
CA2522679 rs750846255 |
497 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280572066 CA353888136 COSM1642038 |
499 | D>N | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1398040376 CA353888267 |
504 | Q>* | No |
ClinGen TOPMed |
|
|
CA2522682 rs748744889 |
507 | T>A | No |
ClinGen ExAC gnomAD |
|
|
VAR_049024 rs3796277 CA2522683 |
507 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2522684 rs200530322 |
508 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1387957344 CA353888363 |
509 | L>V | No |
ClinGen TOPMed |
|
|
rs771810002 CA2522686 |
510 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2522685 COSM1035858 rs747747143 |
510 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1173679662 CA353888438 |
513 | F>V | No |
ClinGen gnomAD |
|
|
CA2522689 rs199573890 |
518 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2522691 rs776725208 |
520 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA79772159 rs113508933 |
521 | V>I | No |
ClinGen Ensembl |
|
|
rs368303675 CA2522694 |
522 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1342765190 CA353888639 |
524 | W>C | No |
ClinGen gnomAD |
|
|
CA353888676 rs1218472425 |
526 | M>T | No |
ClinGen gnomAD |
|
|
rs201890694 CA2522696 |
527 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2522698 rs756490946 |
530 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs374217390 CA2522700 |
533 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374217390 CA353888790 |
533 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374217390 CA353888793 |
533 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs189519646 CA2522702 |
535 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353888829 rs913523734 |
535 | K>M | No |
ClinGen TOPMed |
|
|
CA79772197 rs913523734 |
535 | K>R | No |
ClinGen TOPMed |
|
|
CA353888840 rs1560071620 |
536 | L>M | No |
ClinGen Ensembl |
|
|
rs1173518557 CA353888857 |
537 | H>D | No |
ClinGen gnomAD |
|
|
CA2522703 rs752295895 |
538 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA353888921 rs1421842357 |
539 | D>E | No |
ClinGen gnomAD |
|
|
rs564897062 CA2522705 |
543 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564897062 CA79772204 |
543 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353889046 rs1560071681 |
545 | N>T | No |
ClinGen Ensembl |
|
|
rs1386900828 CA353889115 |
548 | D>E | No |
ClinGen gnomAD |
|
|
rs1328811423 CA353889139 |
549 | M>I | No |
ClinGen gnomAD |
|
|
rs746742945 CA2522706 |
549 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440116928 CA353889173 |
551 | L>M | No |
ClinGen gnomAD |
|
|
rs1309819116 CA353889206 |
552 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770855927 CA2522707 |
553 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA2522708 rs576871210 |
556 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291209281 CA353889306 |
558 | E>K | No |
ClinGen Ensembl |
|
|
rs1576791614 CA353889331 |
559 | T>P | No |
ClinGen Ensembl |
No associated diseases with Q969Y0
No regional properties for Q969Y0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q969Y0 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWTNFFKLRL | FCCLLAVLMV | VVLVINVTQV | EYLDHETVSA | TFIDSSGQFV | SSQVTGISRN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PYCGYDQQTL | SSQERMEEDS | LLAALHRQVP | DVGPVPFVKS | TDPSSSYFVI | LNSAAFFKVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SQLEVLVHVQ | DFQRKPKKYG | GDYLQARIHS | LKLQAGAVGR | VVDYQNGFYK | VFFTLLWPGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKVSVSLVHP | SEGIRVLQRL | QEDKPDRVYF | KSLFRSGRIS | ETTECNVCLP | GNLPLCNFTD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LYTGEPWFCF | KPKKLPCSSR | ITHFKGGYLK | GLLTAAESAF | FQSGVNIKMP | VNSSGPDWVT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VIPRRIKETN | SLELSQGSGT | FPSGYYYKDQ | WRPRKFKMRQ | FNDPDNITEC | LQRKVVHLFG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSTIRQWFEY | LTTFVPDLVE | FNLGSPKNVG | PFLAVDQKHN | ILLKYRCHGP | PIRFTTVFSN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELHYVANELN | GIVGGKNTVV | AIAVWSHFST | FPLEVYIRRL | RNIRRAVVRL | LDRSPKTVVV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IRTANAQELG | PEVSLFNSDW | YNFQLDTILR | RMFSGVGVYL | VDAWEMTLAH | YLPHKLHPDE |
| 550 | |||||
| VIVKNQLDMF | LSFVCPLET |