Q14244
PR
Gene name |
MAP7 |
Protein name |
Ensconsin |
Names |
PSGL-1, Selectin P ligand, Epithelial microtubule-associated protein of 115 kDa, E-MAP-115, Microtubule-associated protein 7, MAP-7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9053 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q14244
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7SGS | EM | 330 A | A | 1-749 | PDB |
| AF-Q14244-F1 | Predicted | AlphaFoldDB |
693 variants for Q14244
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4016348 rs374838540 |
2 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365849105 rs1336197584 |
3 | E>K | No |
ClinGen TOPMed |
|
|
CA365849098 rs1263527422 |
4 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365849089 rs1205682752 |
5 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1205682752 CA365849090 |
5 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365849093 rs1167003224 |
5 | G>R | No |
ClinGen gnomAD |
|
|
rs1351045213 CA365849080 |
7 | G>R | No |
ClinGen TOPMed |
|
|
rs1351045213 CA365849081 |
7 | G>S | No |
ClinGen TOPMed |
|
|
rs1359526698 CA365849075 |
8 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4016344 rs756078899 |
9 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753029585 CA4016343 |
9 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365849062 rs767620454 |
10 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760023284 CA4016341 |
10 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016342 rs767620454 |
10 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1365571432 CA365849047 |
12 | R>K | No |
ClinGen gnomAD |
|
|
rs766807150 CA365849038 CA365849041 |
12 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA365849022 rs1583171754 |
14 | G>R | No |
ClinGen Ensembl |
|
|
rs1583171748 CA365849013 |
14 | G>V | No |
ClinGen Ensembl |
|
|
rs1167582724 CA365848999 |
15 | D>E | No |
ClinGen gnomAD |
|
|
rs773537487 CA4016336 |
17 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469896356 CA365848979 |
17 | A>S | No |
ClinGen TOPMed |
|
|
rs773537487 CA4016335 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768219481 CA4016334 |
18 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768219481 CA365848972 |
18 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4016292 rs762259460 |
23 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4016291 rs757722809 |
25 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148170760 rs757722809 |
25 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767017990 CA4016290 |
27 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759040842 CA4016289 |
28 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352459438 CA365755607 |
29 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1352459438 CA365755606 |
29 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4016288 rs774047253 |
29 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA148170737 rs774047253 |
29 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4016287 rs770547707 |
31 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1582866328 CA365755481 |
35 | A>P | No |
ClinGen Ensembl |
|
|
rs1582866311 CA365755452 |
36 | S>P | No |
ClinGen Ensembl |
|
|
rs762843250 CA4016286 |
37 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4016285 rs368985967 |
38 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365755398 rs1479705735 COSM1440668 |
38 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1479705735 CA365755392 |
38 | R>L | No |
ClinGen gnomAD |
|
|
rs1191906987 CA365755372 |
39 | P>R | No |
ClinGen gnomAD |
|
|
CA148170719 rs775727934 |
39 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA365755358 rs1480348673 |
40 | A>D | No |
ClinGen gnomAD |
|
|
CA4016283 rs371519444 |
43 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA148170705 rs963397072 |
45 | G>R | No |
ClinGen Ensembl |
|
|
rs77796143 CA148170701 |
46 | Q>K | No |
ClinGen Ensembl |
|
|
rs1262230842 CA365755205 |
47 | N>K | No |
ClinGen gnomAD |
|
|
rs975248434 CA148170682 |
52 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA148170671 rs964233654 |
55 | P>S | No |
ClinGen TOPMed |
|
|
CA365752204 rs1582832799 |
56 | D>A | No |
ClinGen Ensembl |
|
|
rs772859968 CA4016262 |
56 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016260 rs761697922 |
57 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs376104256 CA148167581 |
57 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376104256 CA4016261 |
57 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA148167571 rs143250781 |
58 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs143864161 CA4016258 |
59 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181946395 CA365752164 |
60 | V>M | No |
ClinGen gnomAD |
|
|
CA4016255 rs202185529 |
62 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4016254 rs202185529 |
62 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4016253 rs779190067 |
62 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016256 rs202185529 |
62 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA148167534 rs915676553 |
63 | V>A | No |
ClinGen TOPMed |
|
|
CA365752112 rs1329706491 |
64 | D>A | No |
ClinGen TOPMed |
|
|
CA365752087 rs1433244733 |
65 | D>E | No |
ClinGen TOPMed |
|
|
CA4016252 rs149529773 |
66 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365752080 rs1288058116 |
66 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs868402868 CA365752062 |
67 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868402868 CA148167524 |
67 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372505270 CA148167515 |
68 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4016251 rs749630280 |
68 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016249 rs756640538 |
70 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765818122 CA365752018 |
71 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765818122 CA4016247 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016248 rs138281942 |
71 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147125690 CA4016246 |
72 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218452125 CA365751998 |
73 | R>* | No |
ClinGen TOPMed |
|
|
CA4016245 rs750112400 |
73 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761752926 CA4016243 |
74 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA365751987 rs761752926 |
74 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365751983 rs1473859887 |
74 | R>H | No |
ClinGen gnomAD |
|
|
CA365751973 rs1368843672 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA365751959 rs1192274303 |
76 | E>K | No |
ClinGen gnomAD |
|
|
rs141805814 CA365751936 |
77 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016240 rs141805814 |
77 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763941595 CA4016241 |
77 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4016239 rs775441643 |
78 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772050662 CA4016238 |
79 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4016237 rs745945936 |
80 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4016236 rs547226023 |
80 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145816831 CA4016234 |
81 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016207 rs533989934 |
83 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4016209 rs774521063 |
83 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4016208 rs774521063 |
83 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4016206 rs763172340 |
84 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 85 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365762757 rs1171056995 |
85 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4016204 rs770208353 |
86 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4016205 rs773352677 |
86 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs368694575 CA148178230 |
86 | I>V | No |
ClinGen ESP gnomAD |
|
|
CA4016203 rs748535607 |
87 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA365762715 rs1255864675 |
88 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA365762722 rs201088954 |
88 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4016202 rs201088954 |
88 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769178325 CA4016201 |
94 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM204683 rs150235721 CA4016200 |
94 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778508371 CA4016199 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs140788014 CA365762620 |
96 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016196 rs777565649 |
97 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016193 COSM1073692 rs375395484 |
100 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1582762577 CA365762536 |
101 | K>R | No |
ClinGen Ensembl |
|
|
rs61734953 CA148178193 |
102 | H>P | No |
ClinGen Ensembl |
|
|
CA4016192 rs759540552 |
103 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs144032858 CA148178192 |
104 | E>K | No |
ClinGen ESP |
|
|
CA4016191 rs766447512 |
106 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148178183 rs372940524 |
106 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4016190 rs766447512 |
106 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1383636120 COSM229024 CA365762443 |
109 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4016186 rs762128390 |
113 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016187 rs769984906 |
113 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs777089779 CA4016185 |
114 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs768857942 CA4016184 |
115 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA365762365 rs1236042697 |
115 | Q>R | No |
ClinGen gnomAD |
|
|
rs868452228 CA148178161 |
117 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 118 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4016182 rs776074208 |
119 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747565014 CA4016183 |
119 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4016180 rs376901368 |
120 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016179 rs777606780 |
122 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA365762285 rs777606780 |
122 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA365762275 rs1227909637 |
123 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4016177 rs146665241 COSM1073690 |
128 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755861106 CA4016178 COSM1073691 |
128 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4016175 rs754659072 |
132 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866886723 CA148178135 |
134 | E>Q | No |
ClinGen Ensembl |
|
|
CA365762163 rs1357768525 |
136 | K>Q | No |
ClinGen TOPMed |
|
|
CA4016149 rs369644416 |
138 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4016148 rs77397071 |
138 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373827555 CA4016146 |
140 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA365762103 rs1374585105 |
143 | V>L | No |
ClinGen TOPMed |
|
|
rs769695371 CA365762097 |
144 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769695371 CA4016144 |
144 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369036954 CA4016145 |
144 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4016143 rs760129459 |
145 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4016142 rs774931261 |
145 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365762090 rs769411447 |
146 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1562341899 CA365762089 |
146 | T>I | No |
ClinGen Ensembl |
|
|
CA4016141 rs769411447 |
146 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs768164838 CA365762083 |
147 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs768164838 CA4016138 |
147 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4016139 rs375795407 |
147 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746625395 CA4016137 |
150 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA148177721 rs78578492 |
151 | Q>K | No |
ClinGen Ensembl |
|
|
CA365762029 rs1384615988 |
154 | K>N | No |
ClinGen gnomAD |
|
|
rs371770631 CA4016135 |
155 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016134 rs369203483 |
157 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778716270 CA4016133 |
157 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365762012 rs369203483 |
157 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757419506 CA4016132 |
158 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365762004 rs1329658087 |
158 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs936715372 CA148177702 |
159 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs148680029 CA4016131 |
159 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756424207 CA4016129 |
161 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM204682 CA365761978 rs1191996244 |
162 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA365761979 rs1191996244 |
162 | W>S | No |
ClinGen gnomAD |
|
|
CA365761963 rs1350613965 |
164 | G>D | No |
ClinGen gnomAD |
|
|
CA4016126 rs759974150 |
165 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1236563099 CA365761948 |
167 | H>Y | No |
ClinGen gnomAD |
|
|
CA365761942 rs1200381059 |
168 | G>R | No |
ClinGen gnomAD |
|
|
CA365761932 rs532639872 |
169 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4016125 rs532639872 |
169 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185327121 CA4016124 |
171 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4016122 rs776038762 |
172 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4016121 rs138434337 |
172 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365761896 rs1163783001 |
174 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4016104 rs750885029 |
177 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365761494 rs1392216374 |
178 | D>H | No |
ClinGen TOPMed |
|
|
CA365761479 rs1419232602 |
180 | R>Q | No |
ClinGen gnomAD |
|
|
rs550407130 CA4016103 |
180 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4016101 rs775184921 |
185 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA365761451 rs775184921 |
185 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4016100 rs371940141 |
188 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4016098 rs774035745 |
190 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs994931978 CA148175537 |
191 | V>I | No |
ClinGen Ensembl |
|
|
rs561001734 CA148175533 |
192 | D>E | No |
ClinGen Ensembl |
|
|
rs368278323 CA4016097 |
193 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375908348 COSM3781976 CA4016095 |
194 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 196 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770056643 CA4016094 |
196 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4016092 rs781603779 |
198 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs192535388 CA4016093 |
198 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263307028 CA365761359 |
199 | L>P | No |
ClinGen gnomAD |
|
|
CA4016090 rs144054836 |
200 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323859907 CA365761347 |
201 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758723257 CA4016088 |
207 | L>Q | No |
ClinGen ExAC |
|
|
CA365761287 rs1399894673 |
211 | D>G | No |
ClinGen gnomAD |
|
|
rs780319242 CA4016071 |
213 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs758752026 CA4016070 |
214 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016068 rs375799988 |
214 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375799988 CA4016069 |
214 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365760986 rs758752026 |
214 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760941814 CA4016067 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477423617 CA365760967 |
216 | L>R | No |
ClinGen gnomAD |
|
|
CA4016064 rs754503100 |
217 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751225123 CA4016063 |
218 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1030834616 CA148173191 |
218 | L>P | No |
ClinGen TOPMed |
|
|
CA4016062 rs766031525 |
219 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4016061 rs762696175 |
219 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1456696049 CA365760922 |
220 | P>S | No |
ClinGen gnomAD |
|
|
CA365760883 rs1260603151 |
223 | S>G | No |
ClinGen gnomAD |
|
|
CA365760872 rs1196845077 |
223 | S>R | No |
ClinGen gnomAD |
|
|
CA4016060 rs750272702 |
225 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1372082006 CA365760818 |
228 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365760802 rs1308758388 |
229 | L>P | No |
ClinGen gnomAD |
|
|
CA4016058 rs149503470 |
231 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149503470 CA365760780 |
231 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365760764 rs1413344107 |
233 | T>A | No |
ClinGen gnomAD |
|
|
CA365760748 rs1399456881 |
234 | H>R | No |
ClinGen gnomAD |
|
|
rs200010762 CA4016056 |
234 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543935729 CA4016055 |
235 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4016053 rs201712239 |
238 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4016052 rs746039243 |
239 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365760619 rs1234889254 |
242 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451246911 CA365760601 |
244 | A>V | No |
ClinGen gnomAD |
|
|
CA365760560 rs1281920055 |
251 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582708606 CA365760484 |
253 | C>Y | No |
ClinGen Ensembl |
|
|
rs878861473 CA148171217 |
256 | I>M | No |
ClinGen Ensembl |
|
|
CA4016031 rs150650551 |
257 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365760450 rs1345456548 |
258 | M>T | No |
ClinGen gnomAD |
|
|
rs770364619 CA4016029 |
258 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748553022 CA4016028 |
259 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4016027 rs779628612 |
260 | Y>S | No |
ClinGen ExAC |
|
|
CA365760429 rs1405159650 |
261 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757781440 CA4016026 |
266 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs750168700 CA4016025 |
266 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs914123425 CA148171183 COSM257367 |
268 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA365760384 rs1423525328 |
268 | S>P | No |
ClinGen gnomAD |
|
|
CA365760383 rs914123425 |
268 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1486871877 CA365760377 |
269 | M>T | No |
ClinGen gnomAD |
|
|
CA365760363 rs1474005117 |
271 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA365760361 rs1242965008 COSM3829129 |
271 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 273 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148171179 rs778695233 |
275 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016024 rs778695233 |
275 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016023 rs757167806 |
277 | T>P | No |
ClinGen ExAC |
|
|
rs138297502 CA4016022 |
278 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138297502 CA4016021 |
278 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016020 rs114912450 |
279 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1435683367 CA365760304 |
281 | G>C | No |
ClinGen TOPMed |
|
|
rs1435683367 CA365760303 |
281 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373263401 CA4016019 |
284 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4016018 rs369706389 |
284 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4016017 rs759596855 |
285 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4016016 rs774600582 |
286 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4016015 rs766554059 |
287 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433774457 CA365760262 |
288 | I>V | No |
ClinGen gnomAD |
|
|
CA365760245 rs1348517914 |
290 | G>D | No |
ClinGen gnomAD |
|
|
rs773646433 CA4016014 |
292 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773646433 CA365760233 |
292 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4016013 rs773646433 |
292 | A>V | Variant assessed as Somatic; 0.0004629 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA148169340 rs960125875 |
293 | S>R | No |
ClinGen Ensembl |
|
|
rs549113167 CA4015997 |
294 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365760200 rs763174328 |
295 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763174328 CA4015996 |
295 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4015995 rs773240434 |
299 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35791300 CA148169332 |
300 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 301 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454333849 CA365760148 |
302 | N>I | No |
ClinGen TOPMed |
|
|
CA365760118 rs1377907832 |
307 | T>A | No |
ClinGen TOPMed |
|
|
rs201244121 CA4015991 |
310 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs148369326 CA4015990 |
311 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA148169321 rs370398745 |
314 | V>A | No |
ClinGen TOPMed |
|
|
rs942544168 CA148169323 |
314 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs942544168 CA365760078 |
314 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3697533 CA4015988 rs377171374 |
318 | N>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA365760053 rs1280628675 |
318 | N>S | No |
ClinGen gnomAD |
|
|
rs770510416 CA4015987 |
320 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA4015986 rs748977506 |
320 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271588581 CA365760044 |
320 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365760037 rs1305383252 |
321 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 321 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4015985 rs184424340 |
321 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs143382936 CA4015984 |
326 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015983 rs747862616 |
326 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365760006 rs143382936 |
326 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015981 rs371652446 |
327 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015980 rs751440841 |
328 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4015979 rs79603562 COSM150185 |
328 | R>Q | thyroid stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA365759992 rs1419264438 |
329 | L>F | No |
ClinGen gnomAD |
|
|
rs758469701 CA4015978 |
330 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4015960 rs141768328 |
332 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365759936 rs1217756012 |
336 | L>I | No |
ClinGen TOPMed |
|
|
CA4015956 rs764562655 |
337 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365759929 rs1562318024 |
337 | P>S | No |
ClinGen Ensembl |
|
|
CA365759919 rs1324712247 |
338 | H>Q | No |
ClinGen gnomAD |
|
|
rs761121091 CA4015955 |
340 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs111623909 CA148169227 |
341 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365759906 rs1382928332 |
341 | G>S | No |
ClinGen gnomAD |
|
|
rs1323716631 CA365759898 |
342 | T>R | No |
ClinGen gnomAD |
|
|
rs1395187315 COSM1073689 CA365759893 |
343 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4015954 rs753302427 |
343 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs760045300 CA4015952 |
344 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768102543 CA4015953 |
344 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365759881 rs1374226394 |
345 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs983626783 CA148169223 |
345 | P>S | No |
ClinGen TOPMed |
|
|
rs769288578 CA4015950 |
347 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1432295209 CA365759873 |
347 | S>P | No |
ClinGen gnomAD |
|
|
CA365759864 rs1238012194 |
348 | S>F | No |
ClinGen gnomAD |
|
|
CA365759854 rs1470089915 |
350 | P>S | No |
ClinGen gnomAD |
|
|
rs140896247 CA4015948 |
352 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768498585 CA4015947 |
353 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs541295645 CA4015946 |
355 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745772438 CA4015943 |
357 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs376443386 CA4015945 |
357 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015944 rs376443386 |
357 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373351701 CA4015941 |
358 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365759812 rs1442856137 |
358 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_034091 CA4015940 rs35350783 |
361 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA148169194 rs35350783 |
361 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4015939 rs201045496 |
362 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408084572 CA365759788 |
362 | R>W | No |
ClinGen gnomAD |
|
|
CA365759782 rs1328249245 |
363 | P>L | No |
ClinGen TOPMed |
|
|
CA365759783 rs1381737326 |
363 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756583412 CA4015938 |
364 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4015937 rs753141068 |
365 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755453056 CA4015935 |
367 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015934 rs752036093 |
369 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148169185 rs1010045555 |
370 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764720646 CA4015933 |
370 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763705463 CA4015930 |
372 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4015931 rs369434039 |
372 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771846451 CA4015927 |
373 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA365759720 rs1337506112 |
374 | R>T | No |
ClinGen gnomAD |
|
|
CA148169175 rs891685890 |
375 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1179030796 CA365759702 |
377 | K>E | No |
ClinGen TOPMed |
|
|
CA4015925 rs375668436 |
377 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414103781 CA365759691 |
378 | V>G | No |
ClinGen TOPMed |
|
|
rs749343888 CA4015923 |
384 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4015922 rs777956137 |
385 | P>A | No |
ClinGen ExAC |
|
|
rs369414732 CA4015920 |
388 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA148169165 rs369414732 |
388 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1056964840 CA148169161 |
389 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4015919 rs201869040 |
389 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755364271 CA4015918 |
390 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 391 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4015917 rs752064195 |
394 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs535580064 CA148169155 |
397 | S>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 398 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766886454 CA4015916 |
400 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148169151 rs373509447 |
400 | G>S | No |
ClinGen Ensembl |
|
|
rs766886454 CA365759545 |
400 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753379906 CA4015914 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA365759528 rs1283788785 |
403 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763546692 CA148169141 CA4015913 |
405 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763486220 CA4015912 |
406 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148169136 rs961853856 |
410 | A>T | No |
ClinGen gnomAD |
|
|
CA4015910 rs767285651 |
410 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 411 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414865379 CA365759476 |
412 | V>I | No |
ClinGen gnomAD |
|
|
rs148466707 CA4015908 |
415 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4015909 rs377272833 |
415 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1477883412 CA365759443 |
417 | P>A | No |
ClinGen TOPMed |
|
|
CA365759441 rs1171061984 |
417 | P>L | No |
ClinGen TOPMed |
|
|
CA365759445 rs1477883412 |
417 | P>S | No |
ClinGen TOPMed |
|
|
rs867904154 CA148169130 |
418 | A>V | No |
ClinGen Ensembl |
|
|
rs770928694 CA4015907 |
419 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs909072452 CA365759415 |
421 | E>D | No |
ClinGen Ensembl |
|
|
CA365759398 rs1307484453 |
424 | P>H | No |
ClinGen TOPMed |
|
|
rs1369926226 CA365759393 |
425 | A>S | No |
ClinGen TOPMed |
|
|
CA365759252 rs768953447 |
426 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768953447 CA4015882 |
426 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215808852 CA365759242 |
427 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4015881 rs747152899 |
427 | P>S | No |
ClinGen ExAC |
|
|
rs532249594 CA365759236 |
428 | A>D | No |
ClinGen 1000Genomes |
|
|
rs532249594 CA148165489 |
428 | A>G | No |
ClinGen 1000Genomes |
|
|
CA4015879 rs566161635 COSM1242492 |
429 | M>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4015877 COSM4160218 rs80342066 |
429 | M>T | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs566161635 CA4015880 |
429 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4015876 rs779382933 |
430 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4015874 rs752279352 |
432 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4015873 rs780516608 |
434 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780516608 CA365759161 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015870 rs113337066 COSM4160217 |
435 | S>L | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD |
|
rs754670187 CA4015872 |
435 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365759149 rs113337066 |
435 | S>W | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA4015868 rs766342081 |
437 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365759124 rs1420558740 |
438 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1336612960 CA4015865 |
441 | S>P | No |
ClinGen TOPMed |
|
|
CA4015864 rs750434219 |
441 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015862 rs761615612 |
442 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365759078 rs1319470702 |
442 | A>V | No |
ClinGen TOPMed |
|
|
rs1243249442 CA365759064 |
444 | A>V | No |
ClinGen TOPMed |
|
|
rs1231072413 CA365759062 |
445 | P>S | No |
ClinGen gnomAD |
|
|
rs945027133 CA148165464 |
446 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 447 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4015860 rs369457560 |
447 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365759043 rs1582674994 |
448 | V>A | No |
ClinGen Ensembl |
|
|
CA365759047 rs1164490625 |
448 | V>I | No |
ClinGen TOPMed |
|
|
CA365759034 rs772486387 |
450 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs746212430 CA4015853 |
450 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772486387 CA4015854 |
450 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349857565 CA365759026 |
451 | P>L | No |
ClinGen TOPMed |
|
|
rs1349857565 CA365759028 |
451 | P>Q | No |
ClinGen TOPMed |
|
|
rs1322634794 CA365759025 |
452 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA148165447 rs371826258 |
452 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365759012 rs1387709105 |
453 | M>I | No |
ClinGen gnomAD |
|
|
rs1296936805 CA365758990 |
457 | P>L | No |
ClinGen gnomAD |
|
|
CA4015848 rs531158079 |
459 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365758967 rs1397111010 |
461 | V>A | No |
ClinGen gnomAD |
|
|
rs754440213 CA4015847 |
461 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015845 rs779829090 |
463 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365758951 rs1414095223 |
464 | S>G | No |
ClinGen gnomAD |
|
|
rs1284383166 CA365758948 |
464 | S>I | No |
ClinGen TOPMed |
|
|
rs1248354057 CA365758945 |
464 | S>R | No |
ClinGen gnomAD |
|
|
rs758308047 CA4015844 |
465 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs556411089 CA365758933 |
467 | V>F | No |
ClinGen gnomAD |
|
|
rs556411089 CA148165432 |
467 | V>I | No |
ClinGen gnomAD |
|
|
rs750274645 CA4015843 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765075900 CA4015842 |
471 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757233415 CA4015841 |
471 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015838 rs760661282 |
475 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365758871 rs1305495585 |
477 | E>A | No |
ClinGen gnomAD |
|
|
rs1312419155 CA365758864 |
478 | E>G | No |
ClinGen gnomAD |
|
|
rs759701304 CA4015835 |
478 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4015834 rs777223851 |
481 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 482 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749870698 CA4015832 |
484 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4015831 rs773576519 |
487 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA365758800 rs143028749 |
488 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4015830 rs143028749 |
488 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1073687 CA365758802 rs1361780560 |
488 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746470141 CA4015829 |
491 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4015825 rs778856615 |
492 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4015826 rs745460628 |
492 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758146716 CA4015828 |
492 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758146716 CA4015827 |
492 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs868502218 CA148165380 |
494 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs868502218 CA365758770 |
494 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs971002438 CA148165378 |
495 | E>K | No |
ClinGen TOPMed |
|
|
CA4015824 rs757000885 |
496 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365758748 rs1582674044 |
497 | E>G | No |
ClinGen Ensembl |
|
|
rs1485751656 CA365758752 |
497 | E>K | No |
ClinGen gnomAD |
|
|
rs753874599 CA4015823 |
499 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1312014449 CA365758735 |
499 | R>K | No |
ClinGen TOPMed |
|
|
CA365758726 rs1582673989 |
500 | E>G | No |
ClinGen Ensembl |
|
|
CA4015819 rs767523223 |
507 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1231550525 CA365758675 |
507 | L>V | No |
ClinGen gnomAD |
|
|
CA148165019 rs1013495304 |
510 | Q>K | No |
ClinGen TOPMed |
|
|
rs1435574439 CA365758070 |
511 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365758064 rs1369928094 |
511 | K>N | No |
ClinGen gnomAD |
|
|
rs1323815193 CA365758063 |
512 | R>G | No |
ClinGen gnomAD |
|
|
rs1466889266 CA365758061 |
512 | R>K | No |
ClinGen TOPMed |
|
|
CA4015808 rs771642716 |
513 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745584728 CA4015807 |
514 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1270603447 CA365758036 |
515 | L>F | No |
ClinGen gnomAD |
|
|
rs749009064 CA365758023 |
517 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180830142 CA365758021 |
518 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs180830142 CA4015802 |
518 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752560023 CA4015801 |
518 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4015803 rs180830142 |
518 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4015799 rs755035507 |
519 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA365758014 rs755035507 |
519 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1192131813 CA365758018 |
519 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1023418889 CA148165002 |
520 | A>T | No |
ClinGen Ensembl |
|
|
CA365758009 rs1268632117 |
520 | A>V | No |
ClinGen gnomAD |
|
|
CA365758006 rs1436329834 |
521 | E>* | No |
ClinGen TOPMed |
|
|
rs751827475 CA4015798 |
524 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs763194318 CA4015796 |
525 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1582669028 CA365757979 |
525 | T>P | No |
ClinGen Ensembl |
|
|
rs867539932 CA148164983 |
526 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs35107962 CA148164980 VAR_034092 |
526 | R>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA365757971 rs138707784 |
527 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4015793 rs138707784 |
527 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1301059510 CA365757970 |
527 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA148164978 rs138707784 |
527 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4015792 rs777275337 |
528 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs771767545 CA4015791 |
529 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1316214219 CA365757951 |
530 | E>* | No |
ClinGen TOPMed |
|
|
CA365757950 rs1215601995 |
530 | E>A | No |
ClinGen TOPMed |
|
|
rs377040711 CA4015788 |
531 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015790 rs759097670 |
531 | S>T | No |
ClinGen ExAC |
|
|
rs770525505 CA4015787 |
532 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA148164963 rs896174811 |
532 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs896174811 CA148164972 |
532 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1397927731 CA365757937 |
533 | R>G | No |
ClinGen gnomAD |
|
|
CA365757927 rs1582668690 |
534 | L>R | No |
ClinGen Ensembl |
|
|
CA365757925 rs1037104534 |
535 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1037104534 CA148164958 |
535 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4015785 rs374218332 |
536 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015786 rs374218332 |
536 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142006982 CA4015783 |
537 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142006982 CA365757915 |
537 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781079659 CA4015782 |
537 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1436161678 CA365757904 |
538 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4015781 rs755101222 |
538 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365757901 rs751662180 |
539 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751662180 CA4015780 |
539 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015778 rs148141271 |
540 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4015777 rs750601098 |
540 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148141271 CA4015779 |
540 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236245039 CA365757886 |
542 | K>E | No |
ClinGen gnomAD |
|
|
rs1277848643 CA365757881 |
542 | K>N | No |
ClinGen TOPMed |
|
|
rs757690767 CA4015775 |
543 | E>K | No |
ClinGen ExAC |
|
|
rs1284886364 CA365757849 |
547 | Q>* | No |
ClinGen TOPMed |
|
|
rs1337448884 CA365757846 |
547 | Q>L | No |
ClinGen gnomAD |
|
|
rs773760531 CA365757842 |
548 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs773760531 CA4015770 |
548 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs773760531 CA365757841 |
548 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs537189843 CA4015772 |
548 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772916311 CA148164906 |
550 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772916311 CA4015766 |
550 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015765 rs769620147 |
553 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365757810 rs769620147 |
553 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365757811 rs1469110223 |
553 | R>W | No |
ClinGen gnomAD |
|
|
rs747918469 CA4015764 |
554 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs34607647 CA148164895 |
556 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs34607647 CA148164894 |
556 | R>P | No |
ClinGen TOPMed |
|
|
CA148164896 rs765319638 |
556 | R>S | No |
ClinGen Ensembl |
|
|
rs768611753 CA4015762 |
557 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2076190 CA365757788 |
558 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 558 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4015761 rs2076190 VAR_028880 |
558 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1362971520 CA365757771 |
560 | E>D | No |
ClinGen TOPMed |
|
|
CA4015759 rs758491463 |
560 | E>G | No |
ClinGen ExAC |
|
|
CA365757762 rs1203156023 |
562 | E>Q | No |
ClinGen gnomAD |
|
|
rs1331193313 CA365757758 |
562 | E>V | No |
ClinGen gnomAD |
|
|
rs746141843 CA4015758 |
563 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365757749 rs757742259 |
564 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757742259 CA4015755 |
564 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365757740 rs1448233509 |
565 | Q>L | No |
ClinGen gnomAD |
|
|
rs1353944855 CA365757701 |
569 | E>K | No |
ClinGen gnomAD |
|
|
CA365757693 rs1327121156 |
569 | E>V | No |
ClinGen gnomAD |
|
|
CA4015721 rs181208871 |
571 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774573471 CA4015719 |
573 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015718 rs771072503 |
573 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749593155 CA4015717 |
574 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs1582666155 CA365757628 |
575 | R>G | No |
ClinGen Ensembl |
|
|
rs1449173091 CA365757621 |
575 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1191630966 CA365757579 |
578 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778114449 CA4015716 |
579 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365757547 rs1582666078 |
581 | V>G | No |
ClinGen Ensembl |
|
|
CA4015714 rs748570656 |
582 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770108668 CA4015715 |
582 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4015713 rs781374085 |
583 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755514745 CA4015712 |
584 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015711 rs755212501 |
585 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1440666 CA4015710 rs372519059 |
585 | R>Q | large_intestine Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1402864341 CA365757490 |
586 | E>D | No |
ClinGen TOPMed |
|
|
CA365757496 rs1582665946 |
586 | E>G | No |
ClinGen Ensembl |
|
|
CA365757475 rs1220262760 |
587 | K>N | No |
ClinGen gnomAD |
|
|
rs765110689 CA4015707 |
590 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs917394161 CA148164692 |
591 | R>G | No |
ClinGen Ensembl |
|
|
rs1312454917 CA365757386 |
594 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759526571 CA4015703 |
596 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365757358 rs1176503056 |
596 | R>H | No |
ClinGen gnomAD |
|
|
rs960406204 CA148164666 |
598 | E>G | No |
ClinGen gnomAD |
|
|
rs1217593494 CA365757343 |
598 | E>K | No |
ClinGen TOPMed |
|
|
CA4015701 rs771178742 |
599 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA365757313 rs1183775424 |
600 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4015674 rs772596912 |
602 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370791479 CA365757188 COSM1311593 |
604 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4015673 rs746304220 |
605 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA148164383 rs748290814 |
606 | I>F | No |
ClinGen TOPMed |
|
|
rs777347633 CA4015671 |
606 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365757140 rs1161015530 |
607 | M>I | No |
ClinGen gnomAD |
|
|
rs993723662 CA148164376 |
607 | M>L | No |
ClinGen Ensembl |
|
|
rs755562038 CA4015670 |
613 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147645484 CA4015668 |
615 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3697531 CA4015667 rs147645484 |
615 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751434344 CA4015666 |
617 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs751434344 CA365757023 |
617 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs766211439 CA4015665 |
618 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4015664 rs758425405 |
618 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1277017938 CA365756965 |
619 | K>E | No |
ClinGen gnomAD |
|
|
COSM594512 CA4015643 rs778692187 |
620 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758263317 CA4015645 |
620 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4015644 rs778692187 |
620 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs757170020 CA4015642 |
622 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA148164260 rs934538605 |
623 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1039649427 CA148164257 |
624 | R>K | No |
ClinGen TOPMed |
|
|
rs144653770 CA4015640 |
626 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144653770 CA365756875 |
626 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4015639 rs760897057 |
627 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4015638 rs752901100 |
628 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4015637 rs559894538 |
629 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015636 rs759784219 |
629 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1171162621 CA365756791 |
633 | L>F | No |
ClinGen gnomAD |
|
|
CA365756780 rs1479311956 |
634 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 641 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148163068 rs527451128 |
644 | C>S | No |
ClinGen 1000Genomes |
|
|
CA365755994 rs1247377623 |
645 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365755991 rs1308834630 |
646 | T>A | No |
ClinGen TOPMed |
|
|
CA4015614 rs114822509 |
646 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773853765 CA4015612 |
648 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4015611 rs144889369 |
649 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144889369 CA148163051 |
649 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4015608 rs771653978 |
651 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320285707 CA365755954 |
652 | G>A | No |
ClinGen gnomAD |
|
|
rs1277736883 CA365755951 |
653 | K>Q | No |
ClinGen TOPMed |
|
|
CA365755941 rs1562304789 |
654 | P>S | No |
ClinGen Ensembl |
|
|
CA365755934 rs1433582260 |
655 | V>A | No |
ClinGen gnomAD |
|
|
rs1047961829 CA148163022 |
655 | V>F | No |
ClinGen Ensembl |
|
|
rs1368432722 CA365755929 |
656 | G>D | No |
ClinGen gnomAD |
|
|
rs774028309 CA4015606 |
657 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4015605 rs770743019 |
658 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA365755909 rs1165180263 |
659 | H>L | No |
ClinGen gnomAD |
|
|
rs930532126 CA148163003 |
661 | V>A | No |
ClinGen TOPMed |
|
|
rs140358034 CA4015604 |
661 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs920235449 CA148162999 |
664 | H>L | No |
ClinGen gnomAD |
|
|
rs1412762858 CA365755883 |
664 | H>N | No |
ClinGen gnomAD |
|
|
CA365755879 rs1247886092 |
664 | H>Q | No |
ClinGen TOPMed |
|
|
CA365755839 rs1436274771 |
670 | V>G | No |
ClinGen gnomAD |
|
|
CA4015602 rs147827400 |
670 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs371588242 | 671 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112403943 CA365753695 |
673 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112403943 CA4015585 |
673 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365753672 rs1177867890 |
674 | P>L | No |
ClinGen TOPMed |
|
|
rs149873804 CA4015582 |
675 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781191557 CA4015581 |
678 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1311966515 CA365753490 |
680 | P>L | No |
ClinGen TOPMed |
|
|
rs1219208948 CA365753456 |
682 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA148158556 rs372344765 |
683 | N>Y | No |
ClinGen ESP TOPMed |
|
|
CA365753400 rs1279637082 |
684 | G>C | No |
ClinGen TOPMed |
|
|
CA365753394 rs1366073225 |
684 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755082190 CA4015580 |
685 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs866198469 CA148158548 |
686 | S>F | No |
ClinGen Ensembl |
|
|
CA365753214 rs1306335294 |
691 | N>K | No |
ClinGen gnomAD |
|
|
CA4015578 rs780302673 |
691 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 692 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758501500 CA4015577 |
694 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 695 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148158547 rs1040913698 |
696 | I>T | No |
ClinGen Ensembl |
|
|
rs267600829 CA148158538 |
699 | P>L | No |
ClinGen Ensembl |
|
|
CA365753077 rs1582618376 |
699 | P>T | No |
ClinGen Ensembl |
|
|
CA4015575 rs765629222 |
700 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365753066 rs1582618326 |
700 | I>V | No |
ClinGen Ensembl |
|
|
rs903288747 CA365753041 |
702 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA148158517 rs903288747 |
702 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365753027 rs1459284125 |
703 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1412760148 CA365752990 |
704 | P>Q | No |
ClinGen gnomAD |
|
|
CA365752968 rs1389542510 |
705 | S>Y | No |
ClinGen gnomAD |
|
|
CA4015574 rs757852374 |
706 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365752952 rs1484161684 |
706 | R>S | No |
ClinGen TOPMed |
|
|
rs201696594 CA148158509 |
707 | L>F | No |
ClinGen TOPMed |
|
|
CA148158502 rs201705301 |
709 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201705301 CA365752906 |
709 | V>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA148158505 rs1043058644 |
709 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1253658099 CA365752900 |
710 | T>A | No |
ClinGen Ensembl |
|
|
CA365752896 rs1183837098 |
710 | T>I | No |
ClinGen gnomAD |
|
|
CA4015572 rs766999236 |
712 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4015571 rs759051558 |
713 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172800634 CA365752825 |
714 | S>R | No |
ClinGen TOPMed |
|
|
rs1454595984 CA365752841 |
714 | S>R | No |
ClinGen TOPMed |
|
|
CA365752820 rs1392964557 |
715 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 716 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281271372 CA365752800 |
716 | E>G | No |
ClinGen gnomAD |
|
|
CA365752723 rs1286706071 |
721 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4015570 rs267600828 |
721 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1353468716 CA365752716 |
722 | I>V | No |
ClinGen TOPMed |
|
|
rs1411955856 CA365752686 |
724 | A>T | No |
ClinGen gnomAD |
|
|
CA365752640 rs1302110734 |
726 | D>E | No |
ClinGen gnomAD |
|
|
rs1468604568 CA365752648 |
726 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs188430992 CA4015569 |
726 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365752638 rs1445471214 |
727 | D>N | No |
ClinGen gnomAD |
|
|
rs1379617251 CA365752625 |
727 | D>V | No |
ClinGen gnomAD |
|
|
COSM3829127 CA148158454 rs1016901538 |
728 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA365752571 rs1177023571 |
730 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs887171586 CA148158427 |
731 | L>V | No |
ClinGen TOPMed |
|
|
CA4015565 rs761806568 |
734 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160701256 CA365752504 |
735 | P>L | No |
ClinGen gnomAD |
|
|
rs199568320 CA148158415 |
736 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs747136258 CA4015562 |
739 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768669659 CA4015563 |
739 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs372170442 CA4015561 |
740 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772426492 CA4015560 |
741 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA365752422 rs1266356880 |
742 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 749 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429607535 CA365751338 |
749 | I>V | No |
ClinGen gnomAD |
|
|
CA365751310 rs1158424464 |
750 | I>R | No |
ClinGen TOPMed |
No associated diseases with Q14244
No regional properties for Q14244
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14244 | |||
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| microtubule associated complex | Any multimeric complex connected to a microtubule. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| response to osmotic stress | 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 a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IWC1 | MAP7D3 | MAP7 domain-containing protein 3 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAELGAGGDG | HRGGDGAVRS | ETAPDSYKVQ | DKKNASSRPA | SAISGQNNNH | SGNKPDPPPV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRVDDRQRLA | RERREEREKQ | LAAREIVWLE | REERARQHYE | KHLEERKKRL | EEQRQKEERR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RAAVEEKRRQ | RLEEDKERHE | AVVRRTMERS | QKPKQKHNRW | SWGGSLHGSP | SIHSADPDRR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVSTMNLSKY | VDPVISKRLS | SSSATLLNSP | DRARRLQLSP | WESSVVNRLL | TPTHSFLARS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSTAALSGEA | ASCSPIIMPY | KAAHSRNSMD | RPKLFVTPPE | GSSRRRIIHG | TASYKKERER |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ENVLFLTSGT | RRAVSPSNPK | ARQPARSRLW | LPSKSLPHLP | GTPRPTSSLP | PGSVKAAPAQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VRPPSPGNIR | PVKREVKVEP | EKKDPEKEPQ | KVANEPSLKG | RAPLVKVEEA | TVEERTPAEP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EVGPAAPAMA | PAPASAPAPA | SAPAPAPVPT | PAMVSAPSST | VNASASVKTS | AGTTDPEEAT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLLAEKRRLA | REQREKEERE | RREQEELERQ | KREELAQRVA | EERTTRREEE | SRRLEAEQAR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EKEEQLQRQA | EERALREREE | AERAQRQKEE | EARVREEAER | VRQEREKHFQ | REEQERLERK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KRLEEIMKRT | RRTEATDKKT | SDQRNGDIAK | GALTGGTEVS | ALPCTTNAPG | NGKPVGSPHV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VTSHQSKVTV | ESTPDLEKQP | NENGVSVQNE | NFEEIINLPI | GSKPSRLDVT | NSESPEIPLN |
| 730 | 740 | ||||
| PILAFDDEGT | LGPLPQVDGV | QTQQTAEVI |