Q9H6U6
PR
Gene name |
BCAS3 |
Protein name |
BCAS3 microtubule associated cell migration factor |
Names |
Breast carcinoma-amplified sequence 3, GAOB1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54828 |
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 Q9H6U6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H6U6-F1 | Predicted | AlphaFoldDB |
652 variants for Q9H6U6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086504 | 25 | Q>del | HEMARS [UniProt] | Yes | UniProt |
| VAR_086505 | 113 | Q>del | HEMARS [UniProt] | Yes | UniProt |
| VAR_086506 | 192 | C>del | HEMARS [UniProt] | Yes | UniProt |
| VAR_086507 | 242 | Y>del | HEMARS [UniProt] | Yes | UniProt |
| VAR_086508 | 486 | S>del | HEMARS [UniProt] | Yes | UniProt |
|
rs754857276 VAR_086509 CA8688461 |
567 | P>L | HEMARS; no protein detected in patient cells that also carry R-577, suggesting the mutant is unstable [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM1384973 rs772813265 CA8688465 VAR_086510 |
577 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine HEMARS; no protein detected in patient cells that also carry L-567, suggesting the mutant is unstable [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_086511 | 743 | Q>del | HEMARS [UniProt] | Yes | UniProt |
|
CA292227178 rs1007480337 |
2 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400462911 rs1597985959 |
3 | E>K | No |
ClinGen Ensembl |
|
|
rs776202684 CA8687904 |
7 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA400463085 rs762229492 |
9 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8687905 rs762229492 |
9 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457905657 CA400463096 |
10 | P>S | No |
ClinGen gnomAD |
|
|
CA400463107 rs1242670463 |
11 | R>G | No |
ClinGen TOPMed |
|
|
rs1466181892 CA400463142 |
12 | R>I | No |
ClinGen gnomAD |
|
|
CA8687907 rs765556399 |
15 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs766607946 | 16 | C>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400463241 rs1454508343 |
17 | T>I | No |
ClinGen gnomAD |
|
|
CA400463239 rs1454508343 |
17 | T>S | No |
ClinGen gnomAD |
|
|
rs750914642 CA8687908 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1292294938 CA400463257 |
18 | G>V | No |
ClinGen gnomAD |
|
|
rs759009633 CA8687909 |
20 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766502815 CA8687910 |
22 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400463289 rs766502815 |
22 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8687911 rs751704466 |
23 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755073133 CA8687912 |
23 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1425205642 CA400463312 |
24 | P>L | No |
ClinGen TOPMed |
|
|
CA8687914 rs748359271 |
24 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370101729 CA8687915 |
28 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8687930 rs767543165 |
30 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8687931 rs752914908 |
32 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA292230612 rs1041269396 |
33 | M>V | No |
ClinGen Ensembl |
|
|
rs1191601311 CA400463894 |
34 | E>D | No |
ClinGen gnomAD |
|
|
CA8687932 rs756320993 |
35 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292230625 rs978425627 |
37 | V>M | No |
ClinGen TOPMed |
|
|
CA292230630 rs1030945661 |
41 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400464013 rs1180761812 |
43 | V>A | No |
ClinGen gnomAD |
|
|
rs781380210 CA292234731 |
50 | G>E | No |
ClinGen Ensembl |
|
|
rs754879954 CA8687959 |
51 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568020726 CA400465974 |
52 | P>T | No |
ClinGen Ensembl |
|
|
rs1256163394 CA400465985 |
54 | T>S | No |
ClinGen gnomAD |
|
|
rs372774453 CA8687961 |
57 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400466010 rs1448053197 |
57 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400466027 rs1211046036 |
59 | K>R | No |
ClinGen gnomAD |
|
|
CA8687962 rs755754115 |
60 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA400466036 rs1449184647 |
61 | V>I | No |
ClinGen gnomAD |
|
|
CA400466037 rs1449184647 |
61 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400466074 COSM1725307 rs1379552304 |
66 | E>* | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1325091154 CA400466082 |
67 | N>D | No |
ClinGen TOPMed |
|
|
rs575831594 CA292234780 |
70 | L>I | No |
ClinGen Ensembl |
|
|
rs771374863 CA8687965 |
71 | N>H | No |
ClinGen ExAC |
|
|
rs1409610114 CA400468289 |
73 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368119215 CA8687984 |
76 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8687985 rs779277894 |
77 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400468337 rs1322404796 |
80 | H>R | No |
ClinGen gnomAD |
|
|
rs772551288 CA8687987 |
83 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA400468364 rs1287030626 |
84 | S>G | No |
ClinGen gnomAD |
|
|
rs775826447 CA8687988 |
85 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs2643103 CA400468386 |
87 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2643103 VAR_065093 CA8687989 |
87 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2643103 CA400468385 |
87 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA292242101 rs533891007 |
89 | P>L | No |
ClinGen TOPMed |
|
|
rs1252728260 CA400468418 |
92 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1180080069 CA400468436 |
94 | M>I | No |
ClinGen gnomAD |
|
|
rs765367069 CA8687993 |
94 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773552597 CA8687994 |
98 | S>R | No |
ClinGen ExAC |
|
|
rs1249579929 CA400468468 |
99 | D>N | No |
ClinGen gnomAD |
|
|
rs1472222939 CA400468471 |
99 | D>V | No |
ClinGen gnomAD |
|
|
rs1369994584 CA400468511 |
104 | W>C | No |
ClinGen gnomAD |
|
|
rs34712615 CA8687995 VAR_057583 |
106 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8687996 rs767397116 |
107 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1367694864 CA400774723 |
109 | S>G | No |
ClinGen gnomAD |
|
|
CA400774726 rs1226483083 |
109 | S>N | No |
ClinGen gnomAD |
|
|
rs1483291308 CA400774731 |
110 | G>S | No |
ClinGen gnomAD |
|
|
CA8688010 rs748225804 |
111 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769960123 CA8688011 |
115 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1482215941 CA400774772 |
116 | F>L | No |
ClinGen gnomAD |
|
|
rs763260459 CA8688013 |
118 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775428400 CA8688015 |
119 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764109288 CA8688017 |
120 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8688016 rs760630193 |
120 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761194335 CA8688019 |
123 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400774819 rs1321744067 COSM1384960 |
124 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs764847912 CA400774820 |
124 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688021 rs764847912 |
124 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764847912 CA8688020 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400774821 rs1448081375 |
125 | A>T | No |
ClinGen TOPMed |
|
|
rs369466598 CA8688022 |
125 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368549894 CA400774832 |
127 | R>G | No |
ClinGen gnomAD |
|
|
CA8688023 rs34431714 |
127 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34431714 CA400774834 |
127 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400774838 rs1299273726 |
128 | I>L | No |
ClinGen gnomAD |
|
|
rs1598428729 CA400774850 |
129 | L>F | No |
ClinGen Ensembl |
|
|
rs1222834763 CA400774853 |
130 | P>S | No |
ClinGen gnomAD |
|
|
CA292718662 rs951628149 |
131 | A>V | No |
ClinGen TOPMed |
|
|
CA8688025 rs755405960 |
132 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA292718664 rs781644914 |
133 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688026 rs781644914 |
133 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688027 rs748703955 |
134 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407365449 CA400777833 |
136 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA400777834 rs1407365449 |
136 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400777837 rs1162983256 |
136 | A>V | No |
ClinGen gnomAD |
|
|
CA8688047 rs756650173 |
139 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8688048 rs777654873 |
140 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8688049 rs749373140 |
143 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352321738 CA400777893 |
144 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484357432 CA400777919 |
147 | P>L | No |
ClinGen gnomAD |
|
|
rs1439365606 CA400777914 |
147 | P>T | No |
ClinGen TOPMed |
|
|
CA292725255 rs868267948 |
148 | L>F | No |
ClinGen gnomAD |
|
|
rs868267948 CA400777920 |
148 | L>V | No |
ClinGen gnomAD |
|
|
rs757347131 CA8688050 |
149 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292725256 rs757347131 |
149 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688051 rs201042830 |
151 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477252520 CA400777936 |
151 | V>F | No |
ClinGen gnomAD |
|
|
rs1229772758 CA400777940 |
152 | C>S | No |
ClinGen gnomAD |
|
|
rs756778697 CA292725258 |
154 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 154 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966711516 CA292725259 |
155 | I>T | No |
ClinGen TOPMed |
|
|
CA8688052 rs746138997 |
156 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8688072 rs758696075 |
163 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1190785458 CA400778843 |
164 | Y>C | No |
ClinGen gnomAD |
|
|
CA400778840 rs1450406194 |
164 | Y>H | No |
ClinGen gnomAD |
|
|
CA8688074 rs747973805 |
165 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs769519972 CA8688075 |
168 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1173200299 CA400778881 |
170 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs773183785 CA8688076 |
173 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749209369 CA8688077 |
173 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292731566 rs949430011 |
174 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1405094850 CA400778909 |
175 | G>R | No |
ClinGen gnomAD |
|
|
CA400778914 rs1435499307 |
175 | G>V | No |
ClinGen gnomAD |
|
|
rs770388498 CA8688078 |
177 | M>I | No |
ClinGen ExAC |
|
|
rs1359154154 CA400778931 |
178 | V>I | No |
ClinGen TOPMed |
|
|
CA8688080 rs759133042 |
181 | I>L | No |
ClinGen ExAC gnomAD |
|
|
COSM561466 CA8688081 rs771698366 |
182 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 183 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222226795 CA400778979 |
184 | K>N | No |
ClinGen gnomAD |
|
|
CA400778989 rs1263019379 |
186 | P>H | No |
ClinGen gnomAD |
|
|
CA400778998 rs1465648216 |
187 | I>M | No |
ClinGen gnomAD |
|
|
rs1430463732 CA400779025 |
191 | H>R | No |
ClinGen TOPMed |
|
|
rs1210943914 CA400779023 |
191 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764414602 CA8688084 |
194 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1199739756 CA400779051 |
194 | K>N | No |
ClinGen gnomAD |
|
|
CA8688086 rs762437454 |
195 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1384964 rs377752373 CA8688085 |
195 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400779076 rs1399309166 |
197 | L>F | No |
ClinGen TOPMed |
|
|
CA8688106 rs762349606 |
198 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688108 rs751009642 |
199 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8688109 rs751009642 |
199 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453475528 CA400779106 |
202 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3795892 rs766394914 CA8688110 COSM417416 |
214 | T>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325335392 CA400779238 |
220 | T>I | No |
ClinGen gnomAD |
|
|
rs759720810 COSM73816 CA8688132 |
223 | Y>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1237716582 CA400779931 |
225 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM223897 rs752954598 CA8688134 |
228 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752954598 CA400779950 |
228 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1180412407 CA400779957 |
229 | N>H | No |
ClinGen TOPMed |
|
|
rs757022097 CA8688135 |
230 | M>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199850576 CA8688136 |
233 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259885312 CA400779997 |
235 | L>F | No |
ClinGen TOPMed |
|
|
rs1199271199 CA400780001 |
235 | L>P | No |
ClinGen TOPMed |
|
|
CA400780015 rs750321035 |
237 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758268067 CA8688138 |
238 | R>C | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400780019 rs1184319232 |
238 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8688139 rs779555069 |
239 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs372919322 CA8688140 |
241 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688141 rs754580534 |
242 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA400780048 rs1381569672 |
243 | A>T | No |
ClinGen TOPMed |
|
|
rs775551528 CA8688171 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760825301 CA8688172 |
249 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA400780213 rs1383177608 COSM259614 |
249 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA400780226 rs1247721403 |
251 | H>Y | No |
ClinGen gnomAD |
|
|
CA8688174 rs371260723 |
254 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688175 rs201556656 |
254 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139472840 CA8688176 |
255 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759526393 CA8688178 |
259 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8688179 rs767082227 |
260 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1000516404 CA292734806 |
261 | N>D | No |
ClinGen Ensembl |
|
|
CA400780295 rs1462883123 |
262 | I>V | No |
ClinGen gnomAD |
|
|
rs1182013851 CA400780313 |
264 | S>F | No |
ClinGen gnomAD |
|
|
rs75547983 CA292734808 |
266 | T>A | No |
ClinGen gnomAD |
|
|
rs75547983 CA292734807 |
266 | T>P | No |
ClinGen gnomAD |
|
|
CA400780343 rs1567830248 |
269 | V>G | No |
ClinGen Ensembl |
|
|
CA8688197 rs550616286 |
278 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370182784 CA8688198 |
282 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA400780712 rs1173987549 |
282 | M>V | No |
ClinGen gnomAD |
|
|
rs752723828 CA8688199 |
283 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 284 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599620379 CA400780758 |
286 | V>G | No |
ClinGen Ensembl |
|
|
rs763718039 CA8688201 |
288 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8688202 rs753388947 |
289 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs756934773 CA8688203 |
290 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs779084599 CA8688204 |
291 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8688205 rs750786732 |
292 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8688206 rs758827930 |
294 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400780806 rs1188862319 |
295 | P>L | No |
ClinGen TOPMed |
|
|
CA8688207 rs780505707 |
296 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400780817 rs1187813686 |
297 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8688208 rs747561473 |
300 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1446545367 CA400780849 |
302 | D>A | No |
ClinGen gnomAD |
|
|
CA8688209 rs755013090 |
302 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688210 rs201047855 |
304 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688212 rs368489170 |
306 | H>Y | No |
ClinGen ESP ExAC |
|
|
rs773377947 CA8688213 |
307 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745630035 CA8688214 |
309 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375099101 CA8688216 |
310 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8688215 rs145172183 |
310 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8688219 rs776214324 |
311 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200850820 CA8688218 |
311 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420405525 CA400780922 |
314 | L>F | No |
ClinGen gnomAD |
|
|
rs764937932 CA8688222 |
318 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688223 rs372546756 |
320 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1223399423 CA400780982 |
324 | T>A | No |
ClinGen gnomAD |
|
|
rs549406958 CA292735560 |
324 | T>I | No |
ClinGen gnomAD |
|
|
CA292735559 rs549406958 |
324 | T>N | No |
ClinGen gnomAD |
|
|
COSM109979 rs140207277 CA8688226 |
325 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8688227 rs755489639 |
326 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688228 rs781607379 |
326 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8688231 rs567999885 |
327 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530176480 CA8688230 |
327 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1163750794 CA400781003 |
328 | G>E | No |
ClinGen gnomAD |
|
|
rs370641747 CA292735562 |
329 | E>A | No |
ClinGen Ensembl |
|
|
CA8688252 rs199756332 |
337 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567879243 CA400778050 |
337 | D>V | No |
ClinGen Ensembl |
|
|
rs746791898 CA8688253 |
338 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs768375405 CA8688254 |
339 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA292737085 rs374547322 |
340 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs374547322 CA400778065 |
340 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs1599722006 CA400778082 |
342 | G>D | No |
ClinGen Ensembl |
|
|
CA400778089 rs774533081 |
343 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688255 rs774533081 |
343 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317122165 CA400778086 |
343 | I>V | No |
ClinGen gnomAD |
|
|
CA292737086 rs898218462 |
346 | H>Y | No |
ClinGen TOPMed |
|
|
CA8688256 rs748056472 |
349 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260264553 CA400778131 |
350 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs900820105 CA292737087 |
352 | K>N | No |
ClinGen Ensembl |
|
|
rs1475720530 CA400778181 |
357 | M>V | No |
ClinGen gnomAD |
|
|
rs1329978238 CA400778227 |
359 | F>L | No |
ClinGen TOPMed |
|
|
CA400778231 rs1349165782 |
360 | N>D | No |
ClinGen Ensembl |
|
|
rs995274041 CA292737088 |
361 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8688259 rs772723503 |
361 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688258 rs772723503 |
361 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599722444 CA400778264 |
362 | S>G | No |
ClinGen Ensembl |
|
|
rs759146185 CA8688294 |
364 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400779289 rs1424776594 |
368 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8688295 rs376502382 |
369 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373621759 CA8688297 |
371 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490352048 CA400779308 |
372 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1490352048 CA400779309 |
372 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754432737 CA8688299 |
374 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1441842951 CA400779333 |
375 | D>E | No |
ClinGen TOPMed |
|
|
CA400779348 rs1377194391 |
377 | H>Q | No |
ClinGen gnomAD |
|
|
rs866983064 CA292739423 |
377 | H>Y | No |
ClinGen Ensembl |
|
|
CA400779373 rs1435191837 |
381 | I>V | No |
ClinGen gnomAD |
|
|
rs1477928361 CA400779389 |
383 | T>I | No |
ClinGen gnomAD |
|
|
CA400779392 rs1178136990 |
384 | H>Y | No |
ClinGen gnomAD |
|
|
CA400779402 rs1487535719 |
385 | P>R | No |
ClinGen TOPMed |
|
|
CA8688301 rs200515922 |
386 | W>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8688302 rs750615863 |
388 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1348021512 CA400779449 |
392 | A>G | No |
ClinGen gnomAD |
|
|
CA400779469 rs1284391603 |
395 | H>R | No |
ClinGen TOPMed |
|
|
rs1242760545 CA400779491 |
398 | T>I | No |
ClinGen TOPMed |
|
|
rs777670268 COSM706589 CA8688307 |
402 | G>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1308011930 CA400779518 |
403 | E>K | No |
ClinGen gnomAD |
|
|
CA292739426 rs915164864 |
404 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1247493414 CA400779539 |
406 | A>T | No |
ClinGen gnomAD |
|
|
CA400779551 rs1279735036 |
407 | K>N | No |
ClinGen gnomAD |
|
|
rs756719817 CA8688309 |
407 | K>Q | No |
ClinGen ExAC |
|
|
rs753710734 CA8688327 |
410 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1169676620 CA400778251 |
412 | C>S | No |
ClinGen gnomAD |
|
|
rs1484318362 CA400778255 |
413 | F>I | No |
ClinGen TOPMed |
|
|
rs1484318362 CA400778256 |
413 | F>L | No |
ClinGen TOPMed |
|
|
CA292744020 rs367925348 |
415 | H>L | No |
ClinGen ESP TOPMed |
|
|
rs1470752581 CA400778302 |
416 | D>E | No |
ClinGen gnomAD |
|
|
rs1331743647 CA400778314 |
418 | R>C | No |
ClinGen gnomAD |
|
|
CA400778315 rs1221763795 |
418 | R>H | No |
ClinGen TOPMed |
|
|
CA8688332 rs779547305 |
420 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 425 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400778366 rs754556946 |
426 | R>L | No |
ClinGen Ensembl |
|
|
CA292744021 COSM1384968 rs754556946 |
426 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs372103600 CA8688333 |
426 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769101666 CA8688334 |
429 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA292744022 rs907007857 |
431 | V>D | No |
ClinGen Ensembl |
|
|
CA8688336 rs748582464 |
431 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400778437 rs773809886 |
437 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762921303 CA8688339 |
438 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1054063370 CA292744023 |
438 | G>V | No |
ClinGen TOPMed |
|
|
CA8688340 rs766506244 |
439 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs759760661 CA8688342 |
441 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688341 rs774400258 |
441 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA400778461 rs1323698174 |
442 | C>R | No |
ClinGen TOPMed |
|
|
rs1399741724 CA400778463 |
442 | C>S | No |
ClinGen TOPMed |
|
|
CA8688344 rs753613820 |
444 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8688345 rs761661321 |
446 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA400778496 rs1271532341 |
447 | M>I | No |
ClinGen gnomAD |
|
|
CA292744024 rs368741768 |
447 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688346 rs368741768 |
447 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400778492 rs1170496124 |
447 | M>V | No |
ClinGen gnomAD |
|
|
CA400778504 rs1400853049 |
448 | S>L | No |
ClinGen gnomAD |
|
|
CA400778512 rs1319702883 |
450 | R>* | No |
ClinGen gnomAD |
|
|
rs558030410 CA8688347 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292744025 rs969795378 |
453 | N>I | No |
ClinGen TOPMed |
|
|
CA292744026 rs868630556 |
454 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779645653 CA292744027 |
454 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8688349 rs779645653 |
454 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688350 rs751188935 |
455 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1303140 rs751188935 CA400778537 |
455 | M>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231484928 CA400778552 |
456 | S>R | No |
ClinGen gnomAD |
|
|
CA8688351 rs754690134 |
457 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8688352 rs201197944 |
457 | R>H | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400778577 rs1210311774 |
460 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 461 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 461 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400778593 rs1283979551 |
462 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs961235993 CA292744028 |
464 | L>Q | No |
ClinGen TOPMed |
|
|
rs749836305 CA8688356 |
468 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA8688357 rs770852965 |
469 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8688358 rs375831364 |
470 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688359 rs759672810 |
472 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs559029593 CA8688362 |
474 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418510608 CA400778691 |
477 | G>D | No |
ClinGen gnomAD |
|
|
rs373017732 CA8688363 COSM3421751 COSM3421752 |
478 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8688364 rs750287812 |
478 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373017732 CA400778692 |
478 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292744030 rs771742994 |
480 | S>I | No |
ClinGen Ensembl |
|
|
CA8688365 rs762951835 |
482 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs868360631 CA292744031 |
483 | P>L | No |
ClinGen TOPMed |
|
|
CA292744032 rs919873544 |
487 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8688367 rs751111315 |
487 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8688369 rs780970051 |
489 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8688370 rs752421395 |
490 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246761928 CA400778763 |
490 | S>T | No |
ClinGen gnomAD |
|
|
rs756398387 CA8688371 |
492 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs1167845292 CA400778796 |
495 | H>R | No |
ClinGen gnomAD |
|
|
CA8688384 rs774481387 |
500 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8688386 rs767167945 |
503 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs752333817 CA8688387 |
504 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292746660 rs994857524 COSM1324929 |
504 | Y>H | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8688388 rs755808494 |
506 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342155653 CA400779655 |
509 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA400779691 rs1215518904 |
514 | N>S | No |
ClinGen gnomAD |
|
|
CA400779697 rs1289530155 |
515 | P>S | No |
ClinGen gnomAD |
|
|
CA8688391 rs757599517 |
516 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8688389 COSM3712404 rs373112749 COSM3712405 |
516 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1470428828 CA400779706 |
517 | L>F | No |
ClinGen gnomAD |
|
|
rs1319342770 CA400779707 |
517 | L>R | No |
ClinGen TOPMed |
|
|
CA292746661 rs746392325 |
518 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746392325 CA8688393 |
518 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400779752 CA400779754 rs1311975430 |
524 | M>I | No |
ClinGen gnomAD |
|
|
CA292746662 rs1013303660 |
524 | M>V | No |
ClinGen gnomAD |
|
|
CA400779755 rs1326936698 |
525 | V>I | No |
ClinGen gnomAD |
|
|
CA8688394 rs758428932 |
527 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA400779769 rs1305184824 |
527 | M>L | No |
ClinGen TOPMed |
|
|
rs1600489523 CA400779783 |
529 | L>F | No |
ClinGen Ensembl |
|
|
rs747142727 CA8688396 |
530 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768908289 CA8688397 |
532 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776783942 CA8688398 |
533 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA400779825 rs750559493 |
535 | P>L | No |
ClinGen Ensembl |
|
|
CA292746665 rs750559493 |
535 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 536 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8688400 rs770872120 |
536 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763104700 CA292746666 |
540 | T>N | No |
ClinGen Ensembl |
|
|
rs370107812 CA8688402 |
542 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1384972 CA400779878 rs746825060 |
544 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA292746667 rs746825060 |
544 | R>G | No |
ClinGen gnomAD |
|
|
rs767082124 CA8688403 |
544 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760173031 COSM252377 CA8688405 |
546 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA292747740 rs759843747 |
548 | Y>F | No |
ClinGen Ensembl |
|
|
CA400780105 rs1417913048 |
549 | L>F | No |
ClinGen gnomAD |
|
|
CA400780113 rs1296308732 |
550 | F>S | No |
ClinGen gnomAD |
|
|
CA400780126 rs775333599 |
552 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688421 rs775333599 |
552 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 556 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768068908 CA8688423 |
557 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776304127 CA8688424 |
558 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 559 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400780176 rs1355295760 |
560 | P>A | No |
ClinGen gnomAD |
|
|
CA8688426 rs765526537 |
561 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA400780396 rs1447601964 |
562 | K>E | No |
ClinGen gnomAD |
|
|
CA8688457 rs754132133 |
563 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779715583 CA8688459 |
567 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779715583 CA8688460 |
567 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292748496 rs1041508116 |
568 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400780440 rs1478808454 |
569 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400780454 rs1423885247 |
571 | P>H | No |
ClinGen gnomAD |
|
|
rs1161017714 CA400780458 |
572 | S>G | No |
ClinGen gnomAD |
|
|
rs959545152 CA292748497 |
574 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA400780483 rs1434626516 |
575 | M>I | No |
ClinGen gnomAD |
|
|
CA292748498 rs903039248 |
575 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400780479 rs1324634437 |
575 | M>V | No |
ClinGen gnomAD |
|
|
rs1000507394 CA292748499 |
576 | G>D | No |
ClinGen TOPMed |
|
|
CA400780516 rs1339877665 |
580 | C>S | No |
ClinGen TOPMed |
|
|
CA8688467 rs771270350 |
582 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1351434990 CA400780527 |
582 | A>S | No |
ClinGen gnomAD |
|
|
CA8688468 rs774568827 |
583 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400780537 rs1453068759 |
584 | I>V | No |
ClinGen gnomAD |
|
|
rs56710603 CA8688470 |
586 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400780572 rs1179962022 |
589 | R>K | No |
ClinGen gnomAD |
|
|
rs1600642719 CA400780577 |
590 | S>A | No |
ClinGen Ensembl |
|
|
rs1419635672 CA400780610 |
594 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs866906428 CA292748500 |
596 | A>S | No |
ClinGen Ensembl |
|
|
CA400780647 rs1416027613 |
597 | G>D | No |
ClinGen TOPMed |
|
|
CA8688472 rs760783681 |
598 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765344649 CA8688495 |
603 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1412827276 CA400781047 |
604 | Q>H | No |
ClinGen TOPMed |
|
|
rs368124165 CA8688496 |
604 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688497 rs368124165 |
604 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400781054 rs1318291897 |
605 | S>F | No |
ClinGen gnomAD |
|
|
CA400781073 rs1400815852 |
608 | V>F | No |
ClinGen gnomAD |
|
|
rs953969668 CA292748813 |
610 | V>I | No |
ClinGen gnomAD |
|
|
CA400781083 rs953969668 |
610 | V>L | No |
ClinGen gnomAD |
|
|
rs752574146 CA8688499 |
612 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs199756871 CA8688500 |
615 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400781170 rs1198912140 |
623 | V>M | No |
ClinGen TOPMed |
|
|
CA400781189 rs1320683578 |
625 | H>L | No |
ClinGen TOPMed |
|
|
CA400781193 rs1289627189 |
626 | M>V | No |
ClinGen TOPMed |
|
|
rs1478994062 CA400781218 |
629 | P>A | No |
ClinGen gnomAD |
|
|
CA292748816 rs1018059124 |
629 | P>L | No |
ClinGen TOPMed |
|
|
CA400781224 rs1416992531 |
630 | R>* | No |
ClinGen gnomAD |
|
|
CA8688503 rs756844690 |
630 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8688504 rs778385378 |
632 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400781240 rs1294357473 |
633 | S>G | No |
ClinGen gnomAD |
|
|
CA400781251 rs1304675280 |
634 | T>I | No |
ClinGen gnomAD |
|
|
rs1394253789 CA400781260 |
636 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 637 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8688507 rs780575795 |
640 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292748819 rs924752071 |
641 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA400781294 rs1306571781 |
641 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8688509 rs769279541 |
642 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1257275567 CA400781310 |
643 | P>L | No |
ClinGen gnomAD |
|
|
CA400781313 rs1268901849 |
644 | L>V | No |
ClinGen TOPMed |
|
|
CA292748821 rs956225332 |
647 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8688510 rs777316473 |
649 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400781360 COSM3787387 COSM3787386 rs769939544 |
651 | R>* | pancreas Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs769939544 CA8688512 |
651 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs773240839 CA400781361 |
651 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773240839 CA8688513 |
651 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400781368 COSM385437 rs1568185434 |
652 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs763250295 CA8688514 |
653 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA400781373 rs763250295 |
653 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 654 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487873123 CA400781388 |
655 | T>N | No |
ClinGen TOPMed |
|
|
rs766648044 CA400781397 |
657 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs766648044 CA8688516 |
657 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA400781422 rs1358808630 |
659 | T>A | No |
ClinGen TOPMed |
|
|
CA292749130 rs1046496093 |
659 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400781420 rs1358808630 |
659 | T>P | No |
ClinGen TOPMed |
|
|
CA400781447 rs1238115527 |
662 | W>C | No |
ClinGen TOPMed |
|
|
rs1322746197 CA400781455 |
663 | N>K | No |
ClinGen gnomAD |
|
|
CA8688537 rs774608547 |
665 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1263983032 CA400781472 |
666 | Q>* | No |
ClinGen gnomAD |
|
|
rs760416767 CA8688538 |
666 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1199460301 CA400781477 |
667 | P>S | No |
ClinGen gnomAD |
|
|
CA8688540 rs753647735 |
668 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765142388 CA400781508 |
671 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688542 rs765142388 |
671 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321094756 CA400781530 |
674 | P>L | No |
ClinGen TOPMed |
|
|
rs758020100 CA8688544 |
678 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs181431699 CA400781571 |
681 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181431699 CA8688545 |
681 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400781576 rs1472479868 |
682 | V>A | No |
ClinGen TOPMed |
|
|
CA292749132 rs950624347 |
683 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs552321976 CA8688549 |
689 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400781624 rs1568194871 |
689 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 691 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292752634 rs778662714 |
692 | L>P | No |
ClinGen Ensembl |
|
|
CA400781666 rs755510848 |
694 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755510848 CA8688728 |
694 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286020296 CA400781664 |
694 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs538600821 CA8688729 |
695 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372139661 CA8688730 |
697 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373599624 CA8688731 |
701 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8688732 rs778744098 |
702 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8688733 rs746209188 |
703 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs267604978 CA8688734 |
703 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267604978 CA8688735 |
703 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292752635 rs891425376 |
704 | H>R | No |
ClinGen TOPMed |
|
|
CA8688736 rs747525788 |
706 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1406176746 CA627034478 |
707 | Y>* | No |
ClinGen gnomAD |
|
|
CA8688738 rs201061353 |
708 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA292752636 rs867363052 |
709 | S>N | No |
ClinGen Ensembl |
|
|
CA292752637 rs371497811 |
710 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA400781762 rs1396840997 |
711 | A>T | No |
ClinGen gnomAD |
|
|
CA400781774 rs770027559 |
713 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770027559 CA8688740 |
713 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400781785 rs1178331114 |
714 | H>R | No |
ClinGen TOPMed |
|
|
CA400781790 rs1442779224 |
715 | S>G | No |
ClinGen gnomAD |
|
|
rs1281104595 CA400781792 |
715 | S>N | No |
ClinGen gnomAD |
|
|
CA8688743 rs767302345 |
717 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs995882591 CA292752639 |
717 | Q>R | No |
ClinGen Ensembl |
|
|
rs775347110 CA8688744 |
723 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA400781892 rs1189118111 |
727 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA400781897 rs1327741593 |
728 | I>T | No |
ClinGen TOPMed |
|
|
CA8688765 rs199740832 |
732 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8688766 rs761349378 |
732 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369119062 CA400781928 |
733 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688767 rs369119062 |
733 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400781934 rs1169648832 |
734 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM473146 CA8688770 rs766203199 |
735 | H>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8688771 rs369101238 |
737 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781695048 CA8688773 |
737 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400781951 rs781695048 |
737 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369101238 CA8688772 |
737 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 742 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400781992 rs1390768977 |
743 | Q>L | No |
ClinGen TOPMed |
|
|
rs748606536 CA8688774 |
747 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA292752984 rs773985426 |
749 | I>T | No |
ClinGen Ensembl |
|
|
CA400782075 rs1267843159 |
755 | T>N | No |
ClinGen gnomAD |
|
|
CA8688777 rs372700855 |
757 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292752986 rs558110487 |
761 | S>N | No |
ClinGen 1000Genomes |
|
|
CA400782128 rs1174019567 |
764 | V>L | No |
ClinGen TOPMed |
|
|
CA8688779 rs779049490 |
768 | H>Y | No |
ClinGen ExAC |
|
|
CA400782164 rs1370798204 |
769 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA400782162 rs1297225961 |
769 | G>R | No |
ClinGen gnomAD |
|
|
rs746765764 CA8688780 |
770 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292752987 rs1007060337 |
772 | D>V | No |
ClinGen Ensembl |
|
|
CA8688782 rs759264893 |
773 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400782191 rs759264893 |
773 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400782202 rs1191130672 |
775 | Q>R | No |
ClinGen gnomAD |
|
|
rs1232685380 CA400782206 |
776 | P>T | No |
ClinGen gnomAD |
|
|
rs374015218 CA8688786 |
778 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 779 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 779 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292752988 rs901043140 |
779 | D>Y | No |
ClinGen Ensembl |
|
|
rs147900116 CA8688788 |
781 | D>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs1568304126 CA400782266 |
784 | D>E | No |
ClinGen Ensembl |
|
|
rs1301960771 CA400782273 |
785 | L>R | No |
ClinGen gnomAD |
|
|
CA400782305 rs1601043816 |
790 | L>V | No |
ClinGen Ensembl |
|
|
rs1443325550 CA400782314 |
791 | R>K | No |
ClinGen gnomAD |
|
|
CA400782335 rs1601100110 |
792 | I>T | No |
ClinGen Ensembl |
|
|
CA8688804 rs770351719 |
795 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8688805 rs773996890 |
796 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA292753583 rs773996890 |
796 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400782358 rs1327255415 |
796 | R>H | No |
ClinGen gnomAD |
|
|
rs1487109403 CA400782366 |
797 | S>F | No |
ClinGen TOPMed |
|
|
rs552565129 CA8688807 |
800 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308198403 CA400782391 |
801 | S>N | No |
ClinGen gnomAD |
|
|
rs1460199653 CA400782394 |
802 | M>L | No |
ClinGen TOPMed |
|
|
CA8688809 rs572795899 COSM220480 |
807 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs754370008 CA8688811 |
807 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs572795899 CA8688810 |
807 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 808 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396862585 CA400782458 |
812 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs568359595 CA292753585 |
818 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA400782498 rs1293125376 |
819 | I>L | No |
ClinGen TOPMed |
|
|
CA292753586 rs554096738 |
819 | I>T | No |
ClinGen Ensembl |
|
|
CA400782499 rs1293125376 |
819 | I>V | No |
ClinGen TOPMed |
|
|
CA8688815 rs750576791 |
822 | A>V | No |
ClinGen ExAC |
|
|
rs972057926 CA292753587 |
823 | S>P | No |
ClinGen Ensembl |
|
|
CA292783803 rs775141966 |
824 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688826 rs775141966 |
824 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688827 rs542725680 |
825 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8688828 rs764443776 |
827 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8688831 rs201160879 |
830 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1223910016 CA400783246 |
832 | L>Q | No |
ClinGen TOPMed |
|
|
CA400783293 rs1297742624 |
839 | W>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 840 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572881067 CA8688833 |
844 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8688834 rs375102707 |
846 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281786484 CA400783338 |
846 | R>W | No |
ClinGen TOPMed |
|
|
rs751863474 CA8688836 |
848 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8688835 rs766464477 |
848 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8688837 rs368303217 |
849 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777696443 CA8688838 |
851 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688839 COSM1384978 rs545072054 |
854 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA292783807 rs79186550 |
855 | E>G | No |
ClinGen Ensembl |
|
|
CA400783414 rs1448234723 |
857 | G>D | No |
ClinGen gnomAD |
|
|
rs372094686 CA8688842 |
859 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757111288 CA8688841 |
859 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400783426 rs771640451 |
860 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053001143 CA292783808 |
860 | E>A | No |
ClinGen TOPMed |
|
|
CA8688844 rs376089700 |
860 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688843 rs771640451 |
860 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400783432 rs1358817701 |
861 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8688846 rs768357672 |
861 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA400783444 rs1196512781 |
863 | A>G | No |
ClinGen TOPMed |
|
|
rs776980125 CA8688847 |
863 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs765640675 CA8688850 |
864 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765640675 CA8688849 |
864 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348401890 CA400783460 |
866 | M>L | No |
ClinGen gnomAD |
|
|
CA400783467 rs1236227246 |
867 | A>T | No |
ClinGen gnomAD |
|
|
CA400783478 rs1568954767 |
868 | E>D | No |
ClinGen Ensembl |
|
|
rs369302933 CA8688854 |
868 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216011997 CA400783482 |
869 | S>A | No |
ClinGen gnomAD |
|
|
CA8688856 rs753662766 |
870 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292783809 rs907703048 |
872 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778671553 CA8688858 |
872 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8688861 rs757785563 |
874 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688860 rs757785563 |
874 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746590680 CA400783514 |
875 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688862 rs746590680 |
875 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 877 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202116679 CA8688863 |
878 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1326578492 CA400783537 |
879 | T>A | No |
ClinGen gnomAD |
|
|
CA8688962 rs775435535 |
880 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs879071789 CA292229596 |
881 | L>P | No |
ClinGen Ensembl |
|
|
rs760512310 CA8688963 |
883 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760512310 CA400467102 |
883 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688964 rs768702070 |
883 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs944822416 CA292229616 |
885 | G>E | No |
ClinGen Ensembl |
|
|
CA8688965 rs776248142 |
886 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs761460954 CA400467160 |
886 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8688966 rs761460954 |
886 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs372166016 CA8688968 |
887 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA292229646 rs747279629 |
888 | E>* | No |
ClinGen gnomAD |
|
|
CA400467185 rs747279629 |
888 | E>K | No |
ClinGen gnomAD |
|
|
rs763314530 CA8688969 |
890 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234281315 CA400467272 |
893 | S>N | No |
ClinGen TOPMed |
|
|
rs1202674644 CA400467317 |
896 | S>C | No |
ClinGen gnomAD |
|
|
rs376626763 COSM982237 CA8688975 |
899 | G>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202157302 CA8688974 |
899 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054629085 CA292229712 |
901 | I>L | No |
ClinGen TOPMed |
|
|
CA8688976 rs777904187 |
901 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292229718 rs1013481579 |
902 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400467420 rs1169758515 |
904 | N>S | No |
ClinGen gnomAD |
|
|
rs771239412 CA8688978 |
905 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8688977 rs749481996 |
905 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372818767 CA400467446 |
906 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746857892 CA8688980 |
908 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8688981 rs768694868 |
909 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400467494 rs776735306 |
909 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688982 rs776735306 |
909 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8688983 rs747625546 |
910 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688984 rs769436887 |
911 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400467531 rs1344146839 |
913 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373618986 CA8688986 |
915 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8688987 rs773269723 |
916 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312440000 CA400467553 |
917 | S>G | No |
ClinGen gnomAD |
|
|
rs759965418 CA8688989 |
917 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8688992 rs753205992 |
920 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA400467574 rs753205992 |
920 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1043082808 CA292229832 |
921 | S>G | No |
ClinGen TOPMed |
|
|
rs1260049237 CA400467587 |
922 | L>F | No |
ClinGen TOPMed |
|
|
COSM1163168 CA400467610 rs200061290 |
924 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8688993 rs200061290 |
924 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688995 rs754012808 |
925 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8688996 rs757386534 |
927 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs200314899 CA8688997 |
928 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
2 associated diseases with Q9H6U6
[MIM: 619641]: Hengel-Maroofian-Schols syndrome (HEMARS)
An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, lower limb spasticity, poor overall growth, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy. {ECO:0000269|PubMed:34022130}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, lower limb spasticity, poor overall growth, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy. {ECO:0000269|PubMed:34022130}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for Q9H6U6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 326 - 366 | IPR001680-1 |
| repeat | WD40 repeat | 370 - 490 | IPR001680-2 |
| repeat | WD40 repeat | 493 - 531 | IPR001680-3 |
| repeat | WD40 repeat | 534 - 620 | IPR001680-4 |
| domain | Autophagy-related protein 16 domain | 16 - 206 | IPR013923 |
| conserved_site | WD40 repeat, conserved site | 352 - 366 | IPR019775-1 |
| conserved_site | WD40 repeat, conserved site | 438 - 452 | IPR019775-2 |
| repeat | G-protein beta WD-40 repeat | 352 - 366 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 438 - 452 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 477 - 491 | IPR020472-3 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell leading edge | The area of a motile cell closest to the direction of movement. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic microtubule | Any microtubule in the cytoplasm of a cell. |
| euchromatin | A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. |
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| phagophore assembly site | Punctate structures proximal to the endoplasmic reticulum which are the sites where the Atg machinery assembles upon autophagy induction. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetyltransferase activator activity | Binds to and increases the activity of an acetyltransferase, an enzyme which catalyzes the transfer of an acetyl group to an acceptor molecule. |
| beta-tubulin binding | Binding to the microtubule constituent protein beta-tubulin. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone acetyltransferase binding | Binding to an histone acetyltransferase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| cellular response to estrogen stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics. |
| Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
| microtubule organizing center organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a microtubule organizing center, a structure from which microtubules grow. |
| negative regulation of focal adhesion assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
| negative regulation of GTPase activity | Any process that stops or reduces the rate of GTP hydrolysis by a GTPase. |
| positive regulation of actin cytoskeleton reorganization | Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization. |
| positive regulation of catalytic activity | Any process that activates or increases the activity of an enzyme. |
| positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| positive regulation of filopodium assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of intracellular protein transport | Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of establishment of cell polarity | Any process that modulates the frequency, rate or extent of establishment of cell polarity. |
| response to estrogen | 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 stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics. |
| response to starvation | 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 starvation stimulus, deprivation of nourishment. |
| tube formation | Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNEAMATDSP | RRPSRCTGGV | VVRPQAVTEQ | SYMESVVTFL | QDVVPQAYSG | TPLTEEKEKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VWVRFENADL | NDTSRNLEFH | EIHSTGNEPP | LLIMIGYSDG | MQVWSIPISG | EAQELFSVRH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GPIRAARILP | APQFGAQKCD | NFAEKRPLLG | VCKSIGSSGT | SPPYCCVDLY | SLRTGEMVKS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IQFKTPIYDL | HCNKRILVVV | LQEKIAAFDS | CTFTKKFFVT | SCYPCPGPNM | NPIALGSRWL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AYAENKLIRC | HQSRGGACGD | NIQSYTATVI | SAAKTLKSGL | TMVGKVVTQL | TGTLPSGVTE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DDVAIHSNSR | RSPLVPGIIT | VIDTETVGEG | QVLVSEDSDS | DGIVAHFPAH | EKPVCCMAFN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TSGMLLVTTD | TLGHDFHVFQ | ILTHPWSSSQ | CAVHHLYTLH | RGETEAKVQD | ICFSHDCRWV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VVSTLRGTSH | VFPINPYGGQ | PCVRTHMSPR | VVNRMSRFQK | SAGLEEIEQE | LTSKQGGRCS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PVPGLSSSPS | GSPLHGKLNS | QDSYNNFTNN | NPGNPRLSPL | PSLMVVMPLA | QIKQPMTLGT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ITKRTGPYLF | GAGCFSIKAP | CKVKPPPQIS | PSKSMGGEFC | VAAIFGTSRS | WFANNAGLKR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EKDQSKQVVV | ESLYIISCYG | TLVEHMMEPR | PLSTAPKISD | DTPLEMMTSP | RASWTLVRTP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QWNELQPPFN | ANHPLLLAAD | AVQYYQFLLA | GLVPPGSPGP | ITRHGSYDSL | ASDHSGQEDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EWLSQVEIVT | HTGPHRRLWM | GPQFQFKTIH | PSGQTTVISS | SSSVLQSHGP | SDTPQPLLDF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DTDDLDLNSL | RIQPVRSDPV | SMPGSSRPVS | DRRGVSTVID | AASGTFDRSV | TLLEVCGSWP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EGFGLRHMSS | MEHTEEGLRE | RLADAMAESP | SRDVVGSGTE | LQREGSIETL | SNSSGSTSGS |
| 910 | 920 | ||||
| IPRNFDGYRS | PLPTNESQPL | SLFPTGFP |