P35580
Gene name |
MYH10 |
Protein name |
Myosin-10 |
Names |
Cellular myosin heavy chain, type B , Myosin heavy chain 10 , Myosin heavy chain, non-muscle IIb , Non-muscle myosin heavy chain B , NMMHC-B , Non-muscle myosin heavy chain IIb , NMMHC II-b , NMMHC-IIB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4628 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
79-784 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Morck MM et al. (2022) "Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function", eLife, 11,
Autoinhibited structure

Activated structure

2 structures for P35580
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4PD3 | X-ray | 284 A | A/B | 1-782 | PDB |
AF-P35580-F1 | Predicted | AlphaFoldDB |
1069 variants for P35580
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs797044880 RCV000190694 CA204664 |
908 | E>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs138732743 CA8377496 RCV000756373 RCV002533121 |
1061 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs755969165 RCV000787338 RCV000787339 CA398030360 |
1471 | R>P | Hypertelorism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA287620402 RCV001263350 COSM1258422 RCV001264676 rs1038557470 |
1863 | R>Q | Global developmental delay oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1418057889 CA398231820 |
2 | A>E | No |
ClinGen gnomAD |
|
CA398231807 rs1487792225 |
4 | R>K | No |
ClinGen TOPMed |
|
CA8378194 rs756126118 |
7 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751196957 CA8378190 |
8 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8378192 rs767198768 |
8 | E>K | No |
ClinGen ExAC gnomAD |
|
rs372687399 CA8378189 |
9 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
CA398231779 rs1198683279 |
9 | D>N | No |
ClinGen gnomAD |
|
CA8378188 rs763181526 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
rs770174008 CA8378186 |
11 | E>A | No |
ClinGen ExAC |
|
CA8378187 rs773679271 |
11 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 15 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1598004940 CA398231728 |
16 | V>G | No |
ClinGen Ensembl |
|
rs1208658210 CA398231719 |
18 | R>G | No |
ClinGen gnomAD |
|
rs1230228219 CA398231695 |
21 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs776679361 CA8378184 |
21 | I>T | No |
ClinGen ExAC gnomAD |
|
CA398231690 rs1341561656 |
22 | Y>C | No |
ClinGen gnomAD |
|
CA398231681 rs1434830364 |
23 | N>K | No |
ClinGen TOPMed |
|
CA8378183 rs267605106 |
23 | N>T | No |
ClinGen ExAC gnomAD |
|
rs1398401617 CA398231666 |
26 | T>A | No |
ClinGen gnomAD |
|
rs1176593697 CA398231664 |
26 | T>N | No |
ClinGen TOPMed |
|
CA398231648 rs1367614654 |
28 | A>V | No |
ClinGen gnomAD |
|
CA8378182 rs747098662 |
30 | W>R | No |
ClinGen ExAC gnomAD |
|
rs759140776 CA287635164 |
32 | A>V | No |
ClinGen Ensembl |
|
rs780207864 CA8378181 |
33 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398231610 rs1419369306 |
34 | K>R | No |
ClinGen TOPMed |
|
TCGA novel | 34 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 35 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8378180 rs772359659 |
36 | V>M | No |
ClinGen ExAC gnomAD |
|
rs986915115 CA287635161 |
39 | P>A | No |
ClinGen Ensembl |
|
CA8378178 rs777663259 |
42 | R>H | No |
ClinGen ExAC gnomAD |
|
CA398231498 rs1481215680 |
51 | K>Q | No |
ClinGen gnomAD |
|
CA398231494 rs1269236006 |
51 | K>R | No |
ClinGen gnomAD |
|
rs1197703640 CA398231482 |
53 | E>K | No |
ClinGen gnomAD |
|
rs1197703640 CA398231481 |
53 | E>Q | No |
ClinGen gnomAD |
|
CA8378176 rs142113205 |
54 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377262737 CA8378177 |
54 | R>W | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8378175 rs754469351 |
55 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8378174 rs754469351 |
55 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs538632736 CA287635136 |
56 | D>G | No |
ClinGen gnomAD |
|
rs751139947 CA8378173 |
56 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA398231446 rs1366200537 |
59 | M>V | No |
ClinGen TOPMed |
|
CA398231429 rs1347763968 |
61 | E>G | No |
ClinGen gnomAD |
|
rs1275715606 CA398231424 |
62 | L>M | No |
ClinGen gnomAD |
|
CA8378172 rs765928187 |
63 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1329451736 CA398231408 |
64 | E>G | No |
ClinGen gnomAD |
|
CA8378171 rs762710196 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 67 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1221426457 CA398231376 |
68 | K>N | No |
ClinGen TOPMed |
|
rs1410474142 CA398231368 |
70 | M>V | No |
ClinGen gnomAD |
|
CA8378170 rs750752525 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
CA398231338 rs1399368512 |
74 | D>N | No |
ClinGen gnomAD |
|
rs1399368512 CA398231336 |
74 | D>Y | No |
ClinGen gnomAD |
|
CA8378169 rs148645531 |
76 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 77 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1598004352 CA398231300 |
79 | M>V | No |
ClinGen Ensembl |
|
COSM3422036 CA398231251 rs1353401334 |
85 | S>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs1237550113 CA398231242 |
87 | V>M | No |
ClinGen TOPMed |
|
rs769183775 CA8378166 |
97 | N>D | No |
ClinGen ExAC TOPMed |
|
CA287635122 rs769183775 |
97 | N>H | No |
ClinGen ExAC TOPMed |
|
rs760696372 CA287635116 |
98 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398231161 rs1234131918 |
98 | E>K | No |
ClinGen gnomAD |
|
CA8378163 rs537008138 |
101 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs994861913 CA287635110 |
103 | H>R | No |
ClinGen TOPMed |
|
CA398231100 rs1441597090 |
107 | D>G | No |
ClinGen gnomAD |
|
CA398231102 rs1197279311 |
107 | D>Y | No |
ClinGen gnomAD |
|
TCGA novel | 108 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8378161 rs777414283 |
110 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1012910851 CA398231062 |
113 | L>V | No |
ClinGen gnomAD |
|
CA8378160 rs367804571 |
115 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
CA398230513 rs1241114876 |
117 | Y>D | No |
ClinGen gnomAD |
|
TCGA novel | 119 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398230470 rs1353122190 |
120 | L>H | No |
ClinGen gnomAD |
|
rs1307122954 CA398230437 |
122 | C>* | No |
ClinGen gnomAD |
|
CA287628552 rs974472050 |
125 | I>V | No |
ClinGen TOPMed |
|
rs767689816 CA8378143 |
130 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398230304 rs1418676829 |
133 | I>T | No |
ClinGen gnomAD |
|
rs200086256 CA8378141 |
133 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs771305741 CA8378140 |
135 | S>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 136 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287628530 rs536841147 |
141 | M>I | No |
ClinGen gnomAD |
|
rs1415240612 CA398230158 |
143 | R>I | No |
ClinGen gnomAD |
|
rs1415240612 CA398230161 |
143 | R>K | No |
ClinGen gnomAD |
|
rs758529502 CA287628528 |
145 | K>R | No |
ClinGen Ensembl |
|
CA8378137 rs370801214 |
147 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA8378136 rs747029840 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA287628514 rs778544686 |
149 | E>D | No |
ClinGen Ensembl |
|
CA398230021 rs1488056541 |
154 | I>V | No |
ClinGen gnomAD |
|
CA398230002 rs1283983765 |
155 | Y>C | No |
ClinGen gnomAD |
|
rs1224910416 CA398229995 |
156 | A>T | No |
ClinGen gnomAD |
|
rs1311988004 CA398229985 |
157 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs778580289 CA8378132 |
162 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA398229903 rs1399028556 |
164 | C>S | No |
ClinGen gnomAD |
|
TCGA novel | 166 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1376152892 CA398229861 |
167 | Q>R | No |
ClinGen gnomAD |
|
rs775459881 CA8378110 |
169 | R>C | No |
ClinGen ExAC gnomAD |
|
COSM986347 rs1291237756 CA398228878 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA398228805 rs1403175415 |
174 | I>T | No |
ClinGen gnomAD |
|
CA8378109 rs771926092 |
174 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8378108 rs745359924 |
177 | T>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 181 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398228183 rs1482799004 |
182 | A>S | No |
ClinGen gnomAD |
|
rs1320802747 CA398228176 |
183 | G>E | No |
ClinGen TOPMed |
|
CA8378091 rs772012440 |
188 | T>A | No |
ClinGen ExAC gnomAD |
|
CA398228141 rs1224769566 |
188 | T>I | No |
ClinGen TOPMed |
|
TCGA novel | 191 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398228117 rs1240710504 |
191 | V>G | No |
ClinGen gnomAD |
|
rs1307836083 CA398228092 |
195 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1263575497 CA398228077 |
197 | H>L | No |
ClinGen TOPMed |
|
rs908266505 CA287609658 |
198 | V>F | No |
ClinGen TOPMed |
|
CA8378087 rs748797741 |
203 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1397033877 CA398228017 |
206 | K>R | No |
ClinGen gnomAD |
|
CA398228001 rs1301356268 |
208 | H>R | No |
ClinGen gnomAD |
|
CA8378085 rs769350540 |
211 | P>S | No |
ClinGen ExAC gnomAD |
|
rs769485047 CA8378065 |
214 | L>P | No |
ClinGen ExAC gnomAD |
|
CA8378064 rs747816782 |
216 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1216190856 CA398227851 |
216 | R>W | No |
ClinGen gnomAD |
|
rs1197465357 CA398227847 |
217 | Q>E | No |
ClinGen gnomAD |
|
CA398227839 rs1449371931 |
218 | L>V | No |
ClinGen gnomAD |
|
CA287603879 rs369676100 |
228 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8378062 rs369676100 |
228 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA287603870 rs1020898272 |
231 | A>G | No |
ClinGen Ensembl |
|
TCGA novel | 231 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1317509310 CA398227721 |
235 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs1213042082 COSM1740388 CA398227691 |
239 | S>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8378051 rs766277962 |
247 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs762916231 CA8378050 |
257 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762916231 CA398227264 |
257 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398227226 rs1181079735 |
260 | N>S | No |
ClinGen gnomAD |
|
rs371439781 CA8378049 |
261 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
rs1159021716 CA398227218 |
261 | I>V | No |
ClinGen TOPMed |
|
rs1380290780 CA398227092 |
267 | E>D | No |
ClinGen gnomAD |
|
CA398227083 rs1175970282 |
268 | K>R | No |
ClinGen gnomAD |
|
rs1567889710 CA398227072 |
269 | S>C | No |
ClinGen Ensembl |
|
rs727504231 CA235284 RCV000154186 VAR_078649 |
270 | R>C | probable disease-associated variant found in a patient with severe intellectual disease, microcephaly and feeding difficulties as well as cerebral atrophy [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
CA287589098 rs866799072 |
275 | A>T | No |
ClinGen Ensembl |
|
rs751322243 CA8378033 |
276 | K>I | No |
ClinGen ExAC gnomAD |
|
CA8378032 rs766222485 |
277 | D>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 277 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM986344 rs1159891064 CA398226970 |
279 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA398226966 rs1187129910 |
279 | R>L | No |
ClinGen gnomAD |
|
rs765255203 CA8378029 |
280 | T>I | No |
ClinGen ExAC gnomAD |
|
rs750265329 CA8378030 |
280 | T>S | No |
ClinGen ExAC gnomAD |
|
CA8378028 rs761179915 |
282 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA398226927 rs1282122417 |
283 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA8378026 rs763624642 |
286 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1302923021 CA398226847 |
291 | A>T | No |
ClinGen TOPMed |
|
TCGA novel | 293 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760472918 CA8378025 |
295 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752329586 CA8378006 |
297 | S>F | No |
ClinGen ExAC gnomAD |
|
CA8378005 rs767309005 |
298 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1259384274 CA398045983 |
300 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 301 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8378004 rs563876302 |
302 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs774823850 CA398045963 |
303 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8378003 rs774823850 |
303 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398045949 rs1417469983 |
305 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs1156873725 CA398045951 |
305 | N>Y | No |
ClinGen TOPMed |
|
rs1486076872 CA398045937 |
307 | Y>N | No |
ClinGen gnomAD |
|
rs1193057450 CA398045927 |
308 | R>K | No |
ClinGen gnomAD |
|
TCGA novel | 310 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763582048 CA8378001 |
315 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8378000 rs773607281 |
315 | I>N | No |
ClinGen ExAC gnomAD |
|
rs769801603 CA8377999 COSM1709795 |
316 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA8377997 rs781347184 |
317 | I>M | No |
ClinGen ExAC gnomAD |
|
rs748262393 CA8377998 |
317 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377996 rs768915962 |
318 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 318 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 321 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377994 rs548860436 |
327 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8377993 rs757131711 |
329 | T>A | No |
ClinGen ExAC gnomAD |
|
CA8377992 rs753749020 |
330 | M>V | No |
ClinGen ExAC gnomAD |
|
rs374148374 CA8377991 |
333 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1461793207 CA398045628 |
335 | I>M | No |
ClinGen gnomAD |
|
TCGA novel | 340 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs937050020 CA287617732 |
340 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA8377990 rs115599230 |
341 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777800734 CA8377971 |
346 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 351 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398045425 rs1380899293 |
360 | S>F | No |
ClinGen gnomAD |
|
TCGA novel | 360 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1180968109 CA398045423 |
361 | F>L | No |
ClinGen gnomAD |
|
rs140485649 CA8377967 |
363 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751159310 CA8377966 |
365 | R>K | No |
ClinGen ExAC gnomAD |
|
CA8377965 rs765979544 |
367 | T>A | No |
ClinGen ExAC gnomAD |
|
rs765979544 CA398045378 |
367 | T>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 369 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377964 rs758741633 |
370 | A>T | No |
ClinGen ExAC |
|
rs750835582 CA8377963 |
372 | M>I | No |
ClinGen ExAC gnomAD |
|
CA398045337 rs1287419696 |
373 | P>S | No |
ClinGen gnomAD |
|
rs1324380614 CA398045324 |
375 | N>D | No |
ClinGen TOPMed |
|
CA398045293 rs1291705207 |
378 | A>T | No |
ClinGen gnomAD |
|
CA8377947 rs757539505 |
378 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8377945 rs754472765 |
383 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1440296256 CA398045166 |
386 | G>E | No |
ClinGen TOPMed |
|
CA398045170 rs1392867812 |
386 | G>R | No |
ClinGen gnomAD |
|
rs779735469 CA8377943 |
390 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1048948128 CA287616204 |
394 | R>G | No |
ClinGen Ensembl |
|
rs758026785 CA8377942 |
394 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8377941 rs750786311 |
397 | L>V | No |
ClinGen ExAC gnomAD |
|
CA8377938 rs754273931 |
400 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1462037943 CA398045074 |
401 | I>V | No |
ClinGen TOPMed |
|
rs1468342462 CA398045053 |
404 | G>S | No |
ClinGen gnomAD |
|
TCGA novel | 405 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398045046 rs1246697754 |
405 | R>Q | No |
ClinGen TOPMed |
|
CA398045010 rs1168519737 |
410 | K>R | No |
ClinGen TOPMed |
|
CA8377934 rs143297738 |
411 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 411 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287616126 rs373921059 |
413 | T>S | No |
ClinGen Ensembl |
|
rs1430788690 CA398044949 |
417 | A>T | No |
ClinGen TOPMed |
|
rs1237126568 CA398044920 |
421 | V>A | No |
ClinGen gnomAD |
|
rs767551084 CA8377915 |
421 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287615117 rs373000728 |
422 | E>Q | No |
ClinGen ESP TOPMed |
|
TCGA novel | 423 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766733329 CA8377912 |
424 | L>V | No |
ClinGen ExAC gnomAD |
|
CA398044894 rs1442715896 |
425 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1334914750 CA398044869 |
429 | Y>C | No |
ClinGen gnomAD |
|
rs1334914750 CA398044870 |
429 | Y>S | No |
ClinGen gnomAD |
|
CA398044864 rs1326476998 |
430 | E>K | No |
ClinGen gnomAD |
|
CA8377911 rs761679522 |
431 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1172401222 CA398044836 |
434 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1597791542 CA398044814 |
437 | V>G | No |
ClinGen Ensembl |
|
rs1048485675 CA398044818 |
437 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1048485675 CA287615094 |
437 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA398044810 rs1328780697 |
438 | H>L | No |
ClinGen TOPMed gnomAD |
|
CA398044807 rs1470736566 |
438 | H>Q | No |
ClinGen gnomAD |
|
rs1597791529 CA398044811 |
438 | H>Y | No |
ClinGen Ensembl |
|
rs768634600 CA8377909 |
439 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA287615066 rs973097442 |
441 | N>S | No |
ClinGen gnomAD |
|
CA398044755 rs1210337835 |
446 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA398044736 rs1224229755 |
449 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA8377906 rs771506485 |
449 | R>S | No |
ClinGen ExAC gnomAD |
|
CA398044727 rs1349713097 |
450 | Q>H | No |
ClinGen gnomAD |
|
rs778485072 CA8377904 |
455 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1355771698 CA398044666 |
460 | I>V | No |
ClinGen gnomAD |
|
CA398044113 rs1345183700 |
469 | N>Y | No |
ClinGen gnomAD |
|
rs772930535 CA8377884 |
474 | L>V | No |
ClinGen ExAC gnomAD |
|
CA8377883 rs769983737 |
477 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1474314317 CA398043988 |
480 | N>S | No |
ClinGen gnomAD |
|
CA398043930 rs1187252272 |
488 | N>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 501 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287612589 rs552872774 |
501 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8377882 rs552872774 |
501 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398043818 rs1192606000 |
503 | G>V | No |
ClinGen TOPMed |
|
rs781759339 CA8377881 |
505 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1260736372 CA398043810 |
505 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 508 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377880 rs755583665 |
509 | I>V | No |
ClinGen ExAC gnomAD |
|
CA398043771 rs1319646094 |
510 | D>N | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA287612532 rs374910256 |
512 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
CA398043755 rs374910256 |
512 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
rs758522214 CA8377877 |
513 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395686492 CA398043739 |
515 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA287612518 rs993552177 |
516 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs767406783 CA8377872 |
518 | C>W | No |
ClinGen ExAC gnomAD |
|
CA8377871 rs759533465 |
519 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765816989 CA8377869 |
520 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 526 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752480302 CA8377853 |
526 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 533 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 535 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 536 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 542 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1362973320 CA398043499 |
548 | T>I | No |
ClinGen TOPMed |
|
rs1401218186 CA398043486 |
550 | V>A | No |
ClinGen TOPMed |
|
rs1346490356 CA398043483 |
551 | E>Q | No |
ClinGen gnomAD |
|
TCGA novel | 552 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377848 rs762318775 |
554 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 555 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749991148 CA8377847 |
558 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377846 rs764794444 |
559 | S>F | No |
ClinGen ExAC gnomAD |
|
CA8377845 rs761584370 |
561 | S>F | No |
ClinGen ExAC gnomAD |
|
rs776437461 CA8377844 |
562 | K>N | No |
ClinGen ExAC gnomAD |
|
CA398043408 rs1314985084 |
562 | K>T | No |
ClinGen gnomAD |
|
rs769079110 CA8377843 |
563 | F>L | No |
ClinGen ExAC |
|
rs551823391 CA8377842 |
564 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398043374 rs1455227893 |
567 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398043294 rs1597765416 |
578 | I>L | No |
ClinGen Ensembl |
|
rs1275700246 CA398043270 |
581 | A>S | No |
ClinGen TOPMed |
|
rs768993165 CA287607867 |
587 | K>R | No |
ClinGen TOPMed |
|
rs768993165 CA287607870 |
587 | K>T | No |
ClinGen TOPMed |
|
TCGA novel | 590 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398043187 rs1428575582 |
591 | W>* | No |
ClinGen gnomAD |
|
rs761102619 CA8377822 |
593 | M>V | No |
ClinGen ExAC gnomAD |
|
rs776035070 CA8377821 |
597 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1205022141 CA398043121 |
597 | D>Y | No |
ClinGen gnomAD |
|
CA8377819 rs760143127 |
602 | N>S | No |
ClinGen ExAC gnomAD |
|
rs770975976 CA8377817 |
603 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749401418 CA8377816 |
605 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1294810414 CA398043028 |
606 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 607 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377814 rs746567330 |
612 | D>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 614 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287607821 rs916948321 |
616 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1250208352 CA398042892 |
618 | L>V | No |
ClinGen TOPMed |
|
TCGA novel | 624 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377794 rs147719939 |
624 | R>G | No |
ClinGen ESP ExAC TOPMed |
|
CA398041538 COSM1387668 rs1470703280 |
624 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs745675609 CA8377792 |
626 | V>M | No |
ClinGen ExAC gnomAD |
|
CA398041487 rs1486706157 |
632 | T>S | No |
ClinGen gnomAD |
|
CA287598566 rs1036602523 |
634 | M>T | No |
ClinGen TOPMed |
|
CA398041477 rs1210077787 |
634 | M>V | No |
ClinGen gnomAD |
|
COSM437878 CA8377791 rs778892637 |
636 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1286251207 CA398041431 |
641 | S>T | No |
ClinGen gnomAD |
|
CA287598557 rs1022810378 |
642 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1234694305 CA398041354 |
651 | R>H | No |
ClinGen gnomAD |
|
rs755696872 CA8377787 |
653 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377788 rs777479790 |
653 | V>I | No |
ClinGen ExAC gnomAD |
|
rs752324451 CA8377786 |
654 | G>W | No |
ClinGen ExAC gnomAD |
|
CA8377785 rs373512044 |
655 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
CA8377782 rs537123965 |
665 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs763509845 CA8377781 |
667 | T>A | No |
ClinGen ExAC |
|
rs1476269473 CA398041253 |
667 | T>S | No |
ClinGen gnomAD |
|
rs773722498 CA8377780 |
669 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA398041186 rs1472891832 |
674 | N>I | No |
ClinGen gnomAD |
|
CA398041154 rs1471840391 |
676 | V>G | No |
ClinGen gnomAD |
|
rs761831948 CA8377778 COSM180054 |
677 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 677 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1446238238 CA398041056 |
684 | E>K | No |
ClinGen gnomAD |
|
rs1265945753 CA398041035 |
685 | K>Q | No |
ClinGen gnomAD |
|
rs1473694923 CA398041019 |
686 | R>K | No |
ClinGen TOPMed |
|
rs868536094 CA287598382 |
687 | A>S | No |
ClinGen TOPMed |
|
rs868536094 CA398040980 |
687 | A>T | No |
ClinGen TOPMed |
|
CA287598378 rs994943895 |
688 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 689 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760860714 CA8377757 |
690 | L>S | No |
ClinGen ExAC gnomAD |
|
rs1360712620 CA398040926 |
691 | D>Y | No |
ClinGen TOPMed |
|
CA398040893 rs1372136199 |
693 | H>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA287598372 rs912752278 |
698 | Q>E | No |
ClinGen TOPMed |
|
CA8377756 rs775863860 |
700 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8377755 rs770780343 |
700 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 704 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1183320550 CA398040758 |
705 | L>Q | No |
ClinGen TOPMed |
|
CA398040713 rs1429161578 |
709 | R>* | No |
ClinGen gnomAD |
|
rs769665917 CA8377752 |
710 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 712 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377751 rs747662974 |
718 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1166703733 CA398040641 |
720 | V>I | No |
ClinGen TOPMed |
|
CA398040642 rs1166703733 |
720 | V>L | No |
ClinGen TOPMed |
|
TCGA novel | 721 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398040634 rs1410082484 |
721 | F>V | No |
ClinGen TOPMed |
|
TCGA novel | 726 | Q>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 730 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377726 rs779311361 |
745 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA398040350 rs1415457290 |
748 | E>G | No |
ClinGen gnomAD |
|
CA8377724 rs749686669 |
749 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8377707 rs775050229 |
751 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287597675 rs775050229 |
751 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377706 rs771704378 |
752 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287597672 rs1007017744 |
752 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 756 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287597666 rs1051349641 |
756 | L>S | No |
ClinGen Ensembl |
|
rs1597721005 CA398040260 |
760 | L>F | No |
ClinGen Ensembl |
|
rs1319722167 CA398040197 |
769 | F>V | No |
ClinGen gnomAD |
|
rs1431116477 CA398040184 |
770 | F>L | No |
ClinGen TOPMed |
|
rs749683184 CA8377703 |
777 | H>N | No |
ClinGen ExAC gnomAD |
|
CA8377702 rs749683184 |
777 | H>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 783 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398040068 rs1165145854 |
787 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 787 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs878973970 CA287597645 |
788 | D>N | No |
ClinGen Ensembl |
|
CA8377699 rs748232776 |
789 | I>T | No |
ClinGen ExAC gnomAD |
|
CA398040053 rs1186051717 |
789 | I>V | No |
ClinGen gnomAD |
|
CA8377697 COSM75511 rs755114317 |
796 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs747162974 CA8377678 |
806 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377677 rs780110828 |
807 | A>D | No |
ClinGen ExAC gnomAD |
|
rs758716832 CA8377676 |
811 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 815 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1431391413 CA398039208 |
823 | C>S | No |
ClinGen TOPMed |
|
CA8377674 rs777490499 |
825 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1358481726 CA398039191 |
825 | A>V | No |
ClinGen TOPMed |
|
rs1597705814 CA398039140 |
833 | Q>K | No |
ClinGen Ensembl |
|
CA398039113 rs1173588107 |
836 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 837 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398039090 rs1294940175 |
839 | T>I | No |
ClinGen TOPMed |
|
rs1294940175 CA398039091 |
839 | T>R | No |
ClinGen TOPMed |
|
CA398039064 rs1597705087 |
841 | V>G | No |
ClinGen Ensembl |
|
rs762239237 CA8377638 |
843 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1323036834 CA398039030 |
847 | V>M | No |
ClinGen gnomAD |
|
CA8377637 rs777205800 |
849 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM986336 CA287590568 rs147765876 |
849 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
rs1157160371 CA398038993 |
852 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA398038970 rs1407172761 |
855 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 861 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1243767553 CA398038908 |
864 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs149675557 CA398038910 |
864 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149675557 CA8377635 |
864 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 866 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772155329 CA8377633 |
867 | K>R | No |
ClinGen ExAC gnomAD |
|
rs745952785 CA8377632 |
869 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150950768 CA8377630 |
871 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs975055076 CA287590538 |
873 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1354922351 CA398038831 |
876 | E>K | No |
ClinGen TOPMed gnomAD |
|
RCV000154185 CA235282 rs727504230 |
877 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA398038806 rs1300401757 |
879 | E>Q | No |
ClinGen gnomAD |
|
rs375420253 CA287590526 |
880 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
CA398038788 rs1364855119 |
881 | K>N | No |
ClinGen gnomAD |
|
CA398038734 rs1252469872 |
887 | E>V | No |
ClinGen TOPMed |
|
CA398038715 rs1429101111 |
890 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA398038707 rs1368617759 |
891 | I>V | No |
ClinGen gnomAD |
|
CA8377611 rs774477942 |
899 | E>A | No |
ClinGen ExAC gnomAD |
|
rs749452689 CA8377609 |
903 | F>V | No |
ClinGen ExAC gnomAD |
|
VAR_078650 | 908 | E>del | probable disease-associated variant found in a patient with intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus and congenital diaphragmatic hernia [UniProt] | No | UniProt |
CA8377608 rs773426257 |
915 | A>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 920 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 924 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs142565684 CA287589948 |
925 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
TCGA novel | 925 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1186042642 CA398038370 |
926 | D>E | No |
ClinGen gnomAD |
|
rs768456879 CA8377607 |
928 | E>* | No |
ClinGen ExAC gnomAD |
|
CA287589924 rs1011631397 |
930 | R>K | No |
ClinGen Ensembl |
|
CA8377606 rs746828333 |
931 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746828333 CA398038315 |
931 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780011377 CA8377605 |
936 | E>K | No |
ClinGen ExAC |
|
TCGA novel | 937 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs758335494 CA8377603 |
937 | R>K | No |
ClinGen ExAC |
|
CA8377601 rs778511117 |
941 | L>I | No |
ClinGen ExAC gnomAD |
|
CA398038147 rs1352416121 |
943 | N>K | No |
ClinGen gnomAD |
|
rs756835134 CA8377600 |
943 | N>S | No |
ClinGen ExAC gnomAD |
|
CA398038146 rs1289126797 |
944 | E>K | No |
ClinGen gnomAD |
|
CA398038129 rs1188195511 |
946 | K>Q | No |
ClinGen TOPMed |
|
CA8377599 rs753504456 |
946 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 948 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398038063 rs1597701812 |
950 | A>V | No |
ClinGen Ensembl |
|
CA8377598 rs763680043 |
951 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1031985824 CA287588178 |
954 | D>E | No |
ClinGen gnomAD |
|
rs755342253 CA8377572 |
958 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs146254620 CA8377570 |
961 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs980413181 CA287588164 |
962 | E>G | No |
ClinGen Ensembl |
|
CA398037790 rs1348631399 |
964 | G>E | No |
ClinGen gnomAD |
|
CA8377569 rs141845979 |
965 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750534832 CA8377568 |
966 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368549821 CA8377567 |
968 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
CA398037769 rs1247687219 |
968 | K>T | No |
ClinGen Ensembl |
|
CA398037726 rs1597690123 |
974 | V>G | No |
ClinGen Ensembl |
|
CA8377564 rs771949507 |
976 | A>E | No |
ClinGen ExAC gnomAD |
|
rs775041727 CA287588092 |
979 | K>E | No |
ClinGen Ensembl |
|
rs1293654640 CA398037687 |
980 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA398037674 rs1456938968 |
982 | K>R | No |
ClinGen gnomAD |
|
rs1024716976 CA287588081 |
983 | M>T | No |
ClinGen Ensembl |
|
CA398037669 rs1162170162 |
983 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA8377562 rs774403852 |
984 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377561 rs190678148 |
986 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398037640 rs1328967664 COSM289466 |
987 | I>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA8377560 rs748806975 |
987 | I>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 988 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398037617 rs1269712589 |
991 | E>K | No |
ClinGen gnomAD |
|
rs1488175717 CA398037552 |
999 | K>R | No |
ClinGen gnomAD |
|
rs1193885887 CA398037417 |
1003 | L>F | No |
ClinGen gnomAD |
|
rs769148087 CA8377539 |
1004 | M>L | No |
ClinGen ExAC gnomAD |
|
rs199871692 CA8377538 |
1004 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398037413 rs769148087 |
1004 | M>V | No |
ClinGen ExAC gnomAD |
|
CA8377536 rs139985087 |
1007 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA287587283 rs139985087 |
1007 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398037387 rs1421457706 |
1007 | R>L | No |
ClinGen TOPMed |
|
CA8377535 rs747360393 |
1008 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780518542 CA287587270 |
1009 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs144668386 CA287587242 |
1010 | E>D | No |
ClinGen ESP TOPMed |
|
CA287587252 rs1023382114 |
1010 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA8377534 rs780337717 |
1011 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1013280939 CA287587233 |
1012 | S>C | No |
ClinGen TOPMed |
|
rs370387006 CA8377531 |
1015 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 1018 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377530 rs757258659 |
1019 | E>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1020 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1597685470 CA398037297 |
1021 | K>T | No |
ClinGen Ensembl |
|
rs756466934 CA8377527 |
1022 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287587204 rs867571967 |
1024 | N>T | No |
ClinGen TOPMed gnomAD |
|
rs930302848 CA287587167 |
1025 | L>M | No |
ClinGen Ensembl |
|
CA8377526 rs752985391 |
1026 | A>V | No |
ClinGen ExAC gnomAD |
|
CA398037204 rs1199649392 |
1034 | V>A | No |
ClinGen gnomAD |
|
rs1213066297 CA398037200 |
1035 | M>K | No |
ClinGen TOPMed |
|
rs765110163 CA8377503 |
1042 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8377502 rs761751766 |
1042 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1417074718 CA398036792 |
1043 | L>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1044 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377501 rs753778213 |
1049 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287586178 rs199831586 |
1049 | T>S | No |
ClinGen Ensembl |
|
rs1228364079 CA398036741 |
1050 | R>H | No |
ClinGen TOPMed |
|
rs1338543257 CA398036701 |
1056 | A>T | No |
ClinGen Ensembl |
|
rs1316376025 CA398036693 |
1057 | K>* | No |
ClinGen gnomAD |
|
CA8377499 rs760197900 |
1058 | R>K | No |
ClinGen ExAC gnomAD |
|
CA8377498 rs775099032 |
1059 | K>N | No |
ClinGen ExAC |
|
rs1414484521 CA398036678 |
1059 | K>R | No |
ClinGen gnomAD |
|
rs1567814761 CA398036668 |
1061 | D>N | No |
ClinGen Ensembl |
|
CA8377494 rs201075759 |
1064 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA287586139 rs1007967737 |
1071 | I>T | No |
ClinGen gnomAD |
|
TCGA novel | 1072 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs371831055 CA8377493 |
1072 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8377492 rs371831055 |
1072 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1030789829 CA287586130 |
1074 | L>V | No |
ClinGen Ensembl |
|
rs776725154 CA8377491 |
1076 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150206681 CA8377490 |
1076 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs755294912 CA8377488 |
1078 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377487 rs751742846 |
1088 | K>E | No |
ClinGen ExAC gnomAD |
|
COSM2153679 rs753724964 CA8377484 |
1095 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA8377483 rs764065210 |
1095 | A>V | No |
ClinGen ExAC gnomAD |
|
rs777035724 CA8377452 |
1101 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1102 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1005211624 CA287585298 |
1103 | T>A | No |
ClinGen Ensembl |
|
CA8377451 rs768730655 |
1105 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398036337 rs1567812159 |
1108 | N>S | No |
ClinGen Ensembl |
|
CA8377450 rs747106071 |
1112 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398036304 rs1288911712 |
1113 | V>A | No |
ClinGen gnomAD |
|
CA398036301 rs1390814552 |
1114 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1194412345 CA398036299 |
1114 | R>Q | No |
ClinGen TOPMed |
|
rs775747892 CA8377449 |
1118 | A>S | No |
ClinGen ExAC gnomAD |
|
rs561418474 CA8377448 |
1120 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749065785 CA8377447 |
1127 | F>C | No |
ClinGen ExAC gnomAD |
|
rs777490524 CA8377446 |
1129 | S>A | No |
ClinGen ExAC gnomAD |
|
rs572241754 COSM1709794 CA8377443 |
1130 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
rs372084317 CA398036178 |
1132 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372084317 CA8377441 |
1132 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372084317 CA8377442 |
1132 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8377439 rs758183447 |
1135 | N>S | No |
ClinGen ExAC gnomAD |
|
CA287585220 rs945870278 |
1142 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1466417623 CA398036092 |
1142 | R>S | No |
ClinGen gnomAD |
|
CA8377435 rs777171855 |
1145 | S>G | No |
ClinGen ExAC gnomAD |
|
CA398036060 rs1315097306 |
1145 | S>N | No |
ClinGen gnomAD |
|
CA287585201 rs772010695 |
1145 | S>R | No |
ClinGen Ensembl |
|
rs764545584 CA8377434 |
1158 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1381696816 CA398035889 |
1161 | T>S | No |
ClinGen gnomAD |
|
CA287580148 rs138474891 |
1178 | E>Q | No |
ClinGen ESP TOPMed |
|
CA287580144 rs866401116 |
1181 | K>E | No |
ClinGen Ensembl |
|
rs1031535575 CA287580141 |
1182 | A>S | No |
ClinGen Ensembl |
|
CA398035610 rs1332447033 |
1184 | E>V | No |
ClinGen gnomAD |
|
CA8377400 rs756915293 |
1185 | E>A | No |
ClinGen ExAC gnomAD |
|
rs777929253 CA8377398 |
1190 | H>L | No |
ClinGen ExAC gnomAD |
|
rs753538380 CA8377399 |
1190 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398035556 rs1457528423 |
1192 | A>T | No |
ClinGen TOPMed |
|
rs753158660 CA8377396 |
1197 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1397576439 CA398035518 |
1197 | M>V | No |
ClinGen gnomAD |
|
CA8377394 rs376424239 |
1202 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398035475 rs1470408788 |
1203 | T>A | No |
ClinGen TOPMed |
|
rs1480128806 CA398035463 |
1205 | L>V | No |
ClinGen gnomAD |
|
rs751706916 CA8377393 |
1206 | E>K | No |
ClinGen ExAC gnomAD |
|
CA287580096 rs528675345 |
1207 | E>D | No |
ClinGen 1000Genomes |
|
rs1415649420 CA398035435 |
1209 | S>* | No |
ClinGen TOPMed |
|
rs1249642497 CA398035423 |
1211 | Q>K | No |
ClinGen gnomAD |
|
CA398035386 rs1475887003 |
1216 | K>R | No |
ClinGen TOPMed |
|
CA8377391 rs201909688 |
1217 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398035031 rs1320409609 |
1220 | A>G | No |
ClinGen gnomAD |
|
rs1450464613 CA398034983 |
1224 | K>N | No |
ClinGen TOPMed |
|
rs1193474487 CA398034967 |
1225 | N>K | No |
ClinGen TOPMed |
|
TCGA novel | 1226 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377368 rs141842778 |
1231 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1385703805 CA398034888 |
1232 | D>E | No |
ClinGen gnomAD |
|
rs1473657751 CA398034892 |
1232 | D>G | No |
ClinGen gnomAD |
|
rs543280206 CA8377366 |
1237 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8377365 rs770300900 |
1237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389731379 CA398034842 |
1238 | C>S | No |
ClinGen TOPMed |
|
CA398034828 rs1440456870 |
1240 | V>M | No |
ClinGen TOPMed |
|
rs1289256872 CA398034820 |
1241 | K>R | No |
ClinGen gnomAD |
|
rs1445869501 CA398034816 |
1242 | V>F | No |
ClinGen gnomAD |
|
rs781478006 CA8377360 |
1246 | V>G | No |
ClinGen ExAC gnomAD |
|
rs369244333 CA287579274 |
1249 | E>G | No |
ClinGen ESP |
|
rs1293035244 CA398034759 |
1250 | S>C | No |
ClinGen gnomAD |
|
CA398034757 rs1354598775 |
1251 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs576157632 CA8377358 |
1252 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs373423150 CA398034699 |
1258 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199724654 CA8377355 |
1259 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM986331 CA8377354 rs765363104 |
1259 | A>V | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1366087342 CA398034684 |
1261 | V>I | No |
ClinGen gnomAD |
|
rs1211454920 CA398034678 |
1262 | Q>E | No |
ClinGen TOPMed |
|
CA8377351 rs147356915 |
1263 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398034650 rs1186689593 |
1266 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA8377349 rs751431868 |
1268 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1474799590 CA398034633 |
1268 | V>L | No |
ClinGen gnomAD |
|
rs1293081616 CA398034608 |
1272 | D>N | No |
ClinGen gnomAD |
|
CA398034599 rs1222240418 |
1273 | R>M | No |
ClinGen gnomAD |
|
rs1357664813 CA398034596 |
1273 | R>S | No |
ClinGen gnomAD |
|
rs1215444607 CA398034557 |
1279 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1324176777 CA398034542 |
1281 | K>N | No |
ClinGen TOPMed |
|
CA398034540 rs1268538795 |
1282 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA8377344 rs776151094 |
1286 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461939532 CA398033769 |
1288 | E>D | No |
ClinGen gnomAD |
|
CA398033739 rs1240169980 |
1290 | D>E | No |
ClinGen TOPMed |
|
rs775866479 CA8377323 |
1293 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs772324476 CA8377322 |
1294 | T>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1296 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746342485 CA8377321 |
1299 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1300 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398033592 rs1340815388 |
1301 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs928927998 CA287577171 |
1301 | K>N | No |
ClinGen Ensembl |
|
CA8377320 rs779583183 |
1301 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398033574 rs1489048969 |
1302 | K>T | No |
ClinGen TOPMed |
|
rs920362698 CA287577144 |
1303 | G>S | No |
ClinGen gnomAD |
|
CA398033554 rs1198412081 |
1303 | G>V | No |
ClinGen TOPMed |
|
rs199778027 CA8377318 |
1304 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1347487041 CA398033477 |
1309 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA8377317 rs778141107 |
1310 | A>T | No |
ClinGen ExAC gnomAD |
|
CA398033456 rs1432747048 |
1311 | A>S | No |
ClinGen gnomAD |
|
CA8377316 rs756466850 |
1312 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1317 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773371592 CA8377293 |
1323 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398033178 rs1597637708 |
1323 | L>R | No |
ClinGen Ensembl |
|
rs769768412 CA8377292 |
1329 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM245851 CA287576544 rs1036463185 |
1329 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1401594440 CA398033106 |
1334 | L>Q | No |
ClinGen TOPMed |
|
rs781292723 CA8377290 |
1337 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377291 rs748362203 |
1337 | R>W | No |
ClinGen ExAC gnomAD |
|
rs745728190 CA8377288 |
1339 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377289 rs375529148 |
1339 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
CA398033045 rs1294295962 |
1344 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 1345 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757128151 CA8377286 COSM437875 |
1345 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs753779988 CA8377285 |
1348 | L>F | No |
ClinGen ExAC gnomAD |
|
rs202145391 CA287576515 |
1348 | L>P | No |
ClinGen 1000Genomes |
|
CA8377284 rs142585848 |
1349 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA287576511 rs201857459 |
1349 | Q>R | No |
ClinGen 1000Genomes |
|
COSM1303562 CA8377283 rs755598671 |
1353 | E>Q | urinary_tract prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs767113622 CA8377282 |
1355 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767113622 CA8377281 |
1355 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398032957 rs923511196 |
1356 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA8377280 rs759942990 |
1356 | E>K | No |
ClinGen ExAC gnomAD |
|
CA287576493 rs923511196 |
1356 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs766867591 CA8377278 |
1357 | E>A | No |
ClinGen ExAC gnomAD |
|
CA8377279 rs774916781 |
1357 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763487706 CA8377275 |
1362 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398032896 rs1199986986 |
1365 | Q>* | No |
ClinGen gnomAD |
|
rs773888464 CA8377274 |
1365 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769870246 CA8377273 |
1366 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377271 rs149021341 |
1368 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398032857 rs1216285065 |
1372 | Q>K | No |
ClinGen gnomAD |
|
CA8377240 rs779902696 |
1373 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1374 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1567791250 CA398032422 |
1374 | A>V | No |
ClinGen Ensembl |
|
rs144905748 CA8377239 |
1376 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs144905748 CA398032397 |
1376 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1376515486 CA398032330 |
1380 | V>L | No |
ClinGen TOPMed |
|
CA8377236 rs754399253 |
1381 | D>A | No |
ClinGen ExAC gnomAD |
|
CA8377235 rs754399253 |
1381 | D>G | No |
ClinGen ExAC gnomAD |
|
rs774645484 CA8377233 |
1383 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1384 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752486595 CA287575955 |
1385 | G>R | No |
ClinGen TOPMed |
|
CA8377230 rs762725776 |
1387 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377231 rs772344466 |
1387 | I>V | No |
ClinGen ExAC gnomAD |
|
CA8377228 rs769639893 |
1388 | E>* | No |
ClinGen ExAC gnomAD |
|
CA398032209 rs1238399758 |
1391 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA8377226 rs781212675 |
1393 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1315945754 CA398032189 |
1393 | A>T | No |
ClinGen gnomAD |
|
rs746558987 CA8377224 |
1394 | K>R | No |
ClinGen ExAC gnomAD |
|
rs199854858 CA8377223 |
1396 | K>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1396 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377222 rs758064899 |
1397 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377221 rs201117056 |
1401 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs779106809 CA8377220 |
1401 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1243412506 CA398032041 |
1402 | E>Q | No |
ClinGen gnomAD |
|
rs764621777 CA8377217 |
1407 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8377216 rs536430361 |
1407 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs926955936 CA287575853 |
1414 | A>P | No |
ClinGen Ensembl |
|
rs1354474534 CA398031657 |
1414 | A>V | No |
ClinGen gnomAD |
|
rs1406560104 CA398031528 |
1421 | T>S | No |
ClinGen gnomAD |
|
rs372919713 CA8377209 |
1422 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
CA287575840 rs79482423 |
1423 | N>T | No |
ClinGen Ensembl |
|
CA398031475 rs1344006495 |
1424 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8377208 rs768782605 |
1424 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398031316 rs1474770192 |
1433 | T>A | No |
ClinGen gnomAD |
|
CA8377203 rs539038765 |
1433 | T>M | Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA398031266 rs1270107270 COSM437874 |
1435 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA398031186 rs1276043064 |
1439 | Q>L | No |
ClinGen gnomAD |
|
rs767545696 CA8377197 |
1440 | R>C | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA398031177 rs1317314259 |
1440 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA8377196 rs146718747 |
1441 | Q>H | No |
ClinGen ESP ExAC |
|
rs751712427 CA8377195 |
1442 | V>I | No |
ClinGen ExAC gnomAD |
|
CA287575782 rs755141861 |
1443 | A>T | No |
ClinGen gnomAD |
|
rs143410922 CA8377192 |
1449 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8377191 rs763982557 |
1449 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1329030410 CA398030942 |
1451 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA8377190 rs760646573 |
1452 | K>* | No |
ClinGen ExAC gnomAD |
|
rs1597632055 CA398030662 |
1458 | A>G | No |
ClinGen Ensembl |
|
CA8377160 rs748556747 |
1458 | A>T | No |
ClinGen ExAC gnomAD |
|
rs781664456 CA8377159 |
1463 | I>V | No |
ClinGen ExAC gnomAD |
|
rs769266230 CA8377158 |
1466 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769266230 CA398030490 |
1466 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398030484 rs1316635911 |
1466 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398030477 rs1452747224 |
1467 | Y>C | No |
ClinGen gnomAD |
|
rs780139174 CA8377156 |
1469 | E>K | No |
ClinGen ExAC gnomAD |
|
rs780139174 CA398030439 |
1469 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs758425968 CA8377155 |
1470 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA8377152 rs755969165 |
1471 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8377153 rs779314247 |
1471 | R>W | No |
ClinGen ExAC gnomAD |
|
CA8377151 rs752597134 |
1473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287575521 rs988699769 |
1473 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA398030296 rs1255634637 |
1475 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs759448954 CA8377149 |
1480 | E>K | No |
ClinGen ExAC gnomAD |
|
CA8377148 rs751484817 |
1481 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1293659806 CA398030169 |
1482 | E>K | No |
ClinGen gnomAD |
|
rs1312441337 CA398030142 |
1483 | T>S | No |
ClinGen TOPMed |
|
rs1234383291 CA398030113 |
1485 | A>V | No |
ClinGen TOPMed |
|
CA8377146 rs762499918 |
1488 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8377144 rs572513630 |
1490 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8377145 rs572513630 |
1490 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA287575499 rs202170785 |
1490 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA398030040 rs1434028441 |
1491 | A>G | No |
ClinGen TOPMed |
|
CA398030035 rs1305332103 |
1492 | L>V | No |
ClinGen gnomAD |
|
rs531817254 CA287575487 |
1493 | E>D | No |
ClinGen gnomAD |
|
CA287575488 rs778793221 |
1493 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA398029986 rs1455154015 COSM986329 |
1495 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA8377141 rs768931248 |
1500 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1312579021 CA398029846 |
1502 | F>L | No |
ClinGen gnomAD |
|
CA8377140 rs747497663 |
1504 | R>S | No |
ClinGen ExAC gnomAD |
|
CA398029819 rs1192929953 |
1504 | R>T | No |
ClinGen gnomAD |
|
CA398029782 rs1270830907 |
1506 | N>K | No |
ClinGen gnomAD |
|
CA8377138 rs150581312 |
1510 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8377136 rs779263369 |
1511 | A>V | No |
ClinGen ExAC gnomAD |
|
CA398029665 rs1277001302 |
1513 | M>T | No |
ClinGen gnomAD |
|
rs749523646 CA8377134 |
1515 | D>V | No |
ClinGen ExAC gnomAD |
|
rs757494416 CA8377135 |
1515 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377133 rs781001883 |
1517 | M>T | No |
ClinGen ExAC gnomAD |
|
CA398029509 rs1390297756 |
1520 | K>R | No |
ClinGen gnomAD |
|
rs374580626 | 1526 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA398028805 rs1344887929 |
1527 | V>I | No |
ClinGen gnomAD |
|
CA398028776 COSM1679557 rs1311552961 |
1529 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1354727832 CA398028745 |
1532 | K>N | No |
ClinGen gnomAD |
|
rs1413771243 CA398028732 |
1534 | K>R | No |
ClinGen TOPMed |
|
CA8377098 rs762983384 |
1535 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8377099 rs771115232 |
1535 | R>W | No |
ClinGen ExAC gnomAD |
|
CA8377097 rs773480638 |
1536 | A>S | No |
ClinGen ExAC gnomAD |
|
rs534582613 CA287574675 |
1539 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
TCGA novel | 1540 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8377094 rs200997387 |
1541 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8377092 rs745779639 |
1542 | E>A | No |
ClinGen ExAC gnomAD |
|
rs756783316 CA8377090 |
1544 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1597625917 CA398028605 |
1545 | R>K | No |
ClinGen Ensembl |
|
rs1296462854 CA398028550 |
1549 | E>G | No |
ClinGen TOPMed |
|
rs753343720 CA8377089 |
1550 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1915597292 RCV001092410 |
1551 | L>P | No |
ClinVar dbSNP |
|
rs755655536 CA8377087 |
1554 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1035518723 CA287574662 |
1555 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs533566907 CA8377084 COSM1159811 |
1558 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA398028398 rs1238331221 |
1561 | A>T | No |
ClinGen gnomAD |
|
CA8377082 rs767059736 |
1562 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1563 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398028362 rs1322725249 |
1564 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA8377081 rs763076162 |
1564 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369578069 CA8377080 |
1565 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA398028302 rs1400523426 |
1568 | N>S | No |
ClinGen gnomAD |
|
TCGA novel | 1569 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1359740606 CA398028293 |
1569 | M>L | No |
ClinGen gnomAD |
|
rs776863710 CA8377077 |
1572 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377075 rs745726185 COSM1189403 |
1574 | A>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1373497700 CA398028218 |
1574 | A>T | No |
ClinGen TOPMed |
|
rs745726185 CA8377076 |
1574 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1415634147 CA398028189 |
1576 | F>I | No |
ClinGen gnomAD |
|
CA8377072 rs749253573 |
1576 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287574639 rs979597530 |
1577 | E>K | No |
ClinGen gnomAD |
|
rs144259360 CA8377070 |
1582 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs967782057 CA287574635 |
1583 | R>K | No |
ClinGen Ensembl |
|
CA8377069 rs752376659 |
1587 | N>K | No |
ClinGen ExAC gnomAD |
|
CA398028076 rs1214872700 |
1589 | E>D | No |
ClinGen gnomAD |
|
CA398028067 rs1386009540 |
1591 | K>Q | No |
ClinGen TOPMed |
|
rs1290808509 CA398028057 |
1592 | R>Q | No |
ClinGen gnomAD |
|
rs1453559044 CA398028058 |
1592 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398028053 rs1209321079 |
1593 | L>V | No |
ClinGen gnomAD |
|
rs916453318 CA287574630 |
1595 | I>M | No |
ClinGen gnomAD |
|
CA398028033 rs1219219605 |
1596 | K>R | No |
ClinGen gnomAD |
|
CA8377035 rs775710600 |
1599 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8377036 rs760846004 COSM180048 |
1599 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1378957188 CA398027999 |
1600 | E>K | No |
ClinGen TOPMed |
|
CA398027991 rs1382416923 |
1601 | L>F | No |
ClinGen gnomAD |
|
rs1439311891 CA398027985 |
1602 | E>K | No |
ClinGen gnomAD |
|
CA8377033 rs762847560 |
1603 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377032 rs773020148 |
1604 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1418472070 CA398027972 |
1604 | E>K | No |
ClinGen TOPMed |
|
rs748110206 CA8377030 |
1608 | E>D | No |
ClinGen ExAC gnomAD |
|
CA398027930 rs1567780808 |
1610 | K>Q | No |
ClinGen Ensembl |
|
rs757550834 CA287573980 |
1611 | Q>L | No |
ClinGen Ensembl |
|
RCV001311866 CA8377028 rs768317136 |
1612 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM180047 rs776217752 CA8377029 |
1612 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA8377027 rs746613898 |
1613 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA398027903 rs1437448775 |
1614 | L>P | No |
ClinGen TOPMed |
|
rs758682741 CA8377025 |
1615 | A>D | No |
ClinGen ExAC |
|
CA287573972 rs758682741 |
1615 | A>G | No |
ClinGen ExAC |
|
rs1308330990 CA398027901 |
1615 | A>T | No |
ClinGen TOPMed |
|
rs1228358584 CA398027889 |
1617 | A>S | No |
ClinGen gnomAD |
|
rs1380537480 CA398027872 |
1619 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA8377023 rs751702534 |
1621 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398027860 rs1242283849 |
1621 | K>T | No |
ClinGen TOPMed |
|
CA287573968 rs200683624 |
1622 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8377022 rs200683624 |
1622 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398027844 rs1362919918 |
1623 | E>V | No |
ClinGen gnomAD |
|
rs757690558 CA8377021 |
1624 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1299151093 CA398027840 |
1624 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs77768450 CA8377019 COSM180046 |
1630 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs553551448 CA8377018 |
1631 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8377016 rs767849368 |
1632 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA398027769 rs761805974 |
1634 | E>D | No |
ClinGen ExAC gnomAD |
|
CA8377013 rs184124261 |
1634 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA8377011 rs776737190 |
1636 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377010 rs778316906 |
1636 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA287573954 rs913090654 |
1638 | K>N | No |
ClinGen Ensembl |
|
CA398027742 rs1221681626 |
1639 | A>T | No |
ClinGen gnomAD |
|
CA8377009 rs760305178 |
1639 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8377008 rs201999754 |
1640 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8377007 rs771695408 |
1642 | E>K | No |
ClinGen ExAC gnomAD |
|
rs552031621 CA8377006 |
1648 | R>C | No |
ClinGen ExAC gnomAD |
|
CA398027668 rs1399740230 |
1650 | L>F | No |
ClinGen gnomAD |
|
CA398027667 rs1381409331 |
1650 | L>H | No |
ClinGen TOPMed |
|
rs1286609111 CA398043138 |
1653 | Q>* | No |
ClinGen TOPMed |
|
rs915958313 CA287625048 |
1654 | M>I | No |
ClinGen TOPMed |
|
rs1229727962 CA398043117 |
1654 | M>K | No |
ClinGen TOPMed gnomAD |
|
rs544758229 CA287625049 |
1654 | M>V | No |
ClinGen Ensembl |
|
CA8376981 rs200040584 |
1659 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA287625044 rs143184061 |
1659 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
CA398043014 rs143184061 |
1659 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
rs1479988689 CA398042979 |
1661 | L>F | No |
ClinGen TOPMed |
|
TCGA novel | 1662 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8376980 rs373565183 |
1663 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
rs1202606390 CA398042957 |
1663 | E>K | No |
ClinGen TOPMed |
|
CA398042930 rs1253602034 |
1664 | A>V | No |
ClinGen TOPMed |
|
CA8376979 COSM1216121 rs770228753 |
1665 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs748608649 CA8376978 |
1665 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398042898 rs1258160779 |
1667 | S>T | No |
ClinGen gnomAD |
|
CA8376976 rs755038281 |
1668 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs894546500 CA287625035 |
1669 | D>E | No |
ClinGen Ensembl |
|
CA398042859 rs1242574514 |
1669 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs747234445 CA8376975 |
1670 | E>G | No |
ClinGen ExAC gnomAD |
|
rs780467361 CA8376974 |
1671 | I>F | No |
ClinGen ExAC gnomAD |
|
CA398042822 rs1350542135 |
1672 | F>S | No |
ClinGen TOPMed |
|
rs1036161314 CA287625014 |
1672 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs377715911 CA8376972 |
1677 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA287625007 rs370034938 |
1678 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA398042734 rs1392894314 |
1684 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 1685 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs199593892 CA287625003 |
1688 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
rs1410645135 CA398042691 |
1690 | L>R | No |
ClinGen TOPMed |
|
rs1283407310 CA398042689 |
1691 | Q>E | No |
ClinGen TOPMed |
|
rs1436611683 CA398042676 |
1692 | L>F | No |
ClinGen gnomAD |
|
CA398042641 rs1597597161 |
1695 | E>D | No |
ClinGen Ensembl |
|
rs1353458011 CA398042628 |
1697 | A>G | No |
ClinGen gnomAD |
|
CA398042633 rs1232643110 |
1697 | A>T | No |
ClinGen gnomAD |
|
CA8376941 rs772874918 |
1699 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1700 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8376940 rs765615644 |
1700 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762128215 CA8376939 |
1701 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8376938 rs777194483 |
1702 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1597597065 CA398042604 |
1702 | A>P | No |
ClinGen Ensembl |
|
rs1390882584 CA398042598 |
1703 | R>C | No |
ClinGen gnomAD |
|
rs769105110 CA8376937 |
1703 | R>H | No |
ClinGen ExAC gnomAD |
|
CA8376936 rs150261129 |
1704 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8376934 rs772298747 |
1706 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs199665530 CA8376931 COSM162712 |
1707 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs372388211 CA8376930 |
1708 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781054950 CA8376929 |
1708 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA8376928 rs754806170 |
1710 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373909561 CA8376927 |
1711 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376926 rs779492520 |
1714 | A>V | No |
ClinGen ExAC gnomAD |
|
rs201394166 CA287623411 |
1715 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1379866738 CA398042467 |
1715 | D>N | No |
ClinGen TOPMed |
|
rs1338581974 CA398042443 |
1716 | E>A | No |
ClinGen gnomAD |
|
TCGA novel | 1716 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1015774530 CA287623399 |
1717 | I>L | No |
ClinGen TOPMed |
|
CA8376923 rs764869831 |
1718 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1597596792 CA398042420 |
1718 | T>P | No |
ClinGen Ensembl |
|
CA8376922 rs762227698 |
1719 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150930070 CA8376920 |
1721 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1020957538 COSM437873 CA287623383 |
1722 | S>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs771872187 CA8376871 |
1725 | S>C | No |
ClinGen ExAC gnomAD |
|
rs527403611 CA8376869 |
1726 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
RCV000922228 rs111570631 CA8376868 |
1726 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8376866 rs369234518 |
1728 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375069093 CA8376863 |
1732 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375069093 CA8376862 |
1732 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398042246 rs150332952 COSM1679556 |
1732 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA8376861 rs371077973 |
1733 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs371976533 CA8376860 |
1733 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs765309529 CA8376857 |
1737 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM986324 CA8376858 rs371758579 |
1737 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
rs1014119460 CA287622442 |
1738 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA8376855 rs367867967 |
1738 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
rs1178074685 CA398042217 |
1738 | I>V | No |
ClinGen TOPMed |
|
rs767265670 COSM986323 CA8376854 |
1739 | A>T | endometrium Variant assessed as Somatic; 4.992e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA8376853 rs759440535 |
1741 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398042188 rs1159027232 |
1743 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1567766941 CA398042180 |
1744 | E>K | No |
ClinGen Ensembl |
|
rs1426753946 CA398042159 |
1747 | E>K | No |
ClinGen gnomAD |
|
CA398042147 rs1193732810 |
1748 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA8376851 rs770842872 |
1749 | Q>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1752 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398042116 rs1456190505 |
1752 | M>T | No |
ClinGen TOPMed |
|
TCGA novel | 1754 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1481892310 CA398042096 |
1755 | L>F | No |
ClinGen gnomAD |
|
CA8376849 rs772808442 |
1756 | N>S | No |
ClinGen ExAC gnomAD |
|
rs747780817 CA8376847 |
1757 | D>H | No |
ClinGen ExAC gnomAD |
|
rs781033424 CA8376846 |
1758 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768900605 CA8376845 |
1758 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376844 rs780299862 CA8376843 |
1759 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376842 rs781357284 |
1760 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376841 rs750964095 |
1760 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1440660628 CA398042058 |
1761 | K>N | No |
ClinGen Ensembl |
|
CA398042041 rs1460230623 |
1764 | L>P | No |
ClinGen gnomAD |
|
CA398042016 rs1376489969 |
1766 | V>A | No |
ClinGen TOPMed |
|
CA287622252 rs908061379 |
1766 | V>M | No |
ClinGen Ensembl |
|
rs1433736551 CA398041999 |
1769 | L>Q | No |
ClinGen gnomAD |
|
CA287622245 rs935477334 |
1769 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA8376825 rs780429629 |
1771 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376823 rs746339192 |
1774 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1209419518 CA398041966 |
1774 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA398041965 rs1181769839 |
1775 | A>T | No |
ClinGen gnomAD |
|
rs1320182276 CA398041960 |
1775 | A>V | No |
ClinGen TOPMed |
|
CA8376821 rs757313647 |
1776 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1189046213 CA398041950 |
1777 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs753855723 CA8376820 |
1777 | R>H | No |
ClinGen ExAC gnomAD |
|
rs145005443 CA8376818 |
1779 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8376815 rs762882971 |
1780 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376816 rs762882971 |
1780 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398041926 rs1296757902 |
1781 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA8376813 rs765325286 |
1785 | N>S | No |
ClinGen ExAC gnomAD |
|
CA8376811 rs536621301 |
1787 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs566193797 CA8376810 |
1787 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8376809 rs763547917 |
1788 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs775041023 CA8376807 |
1791 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398041861 rs1357098058 |
1791 | E>Q | No |
ClinGen TOPMed |
|
rs772477507 CA8376806 |
1792 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287622129 rs373530537 |
1792 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs992122413 CA287622088 |
1794 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA287622085 rs1018614920 |
1795 | K>E | No |
ClinGen Ensembl |
|
rs777869873 CA8376801 |
1802 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs779272764 CA287622042 |
1805 | E>K | No |
ClinGen Ensembl |
|
CA398041758 rs1336859203 |
1806 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398041755 rs1212440022 |
1807 | A>T | No |
ClinGen TOPMed |
|
CA8376799 rs201873473 |
1808 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8376798 rs781325411 |
1809 | K>N | No |
ClinGen ExAC gnomAD |
|
CA398041736 rs1332494820 |
1810 | S>P | No |
ClinGen gnomAD |
|
rs1271691405 CA398041727 |
1811 | K>R | No |
ClinGen gnomAD |
|
rs1325448385 CA398041707 |
1814 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA287622004 rs1014989232 |
1815 | T>N | No |
ClinGen TOPMed |
|
rs1442398416 CA398041693 |
1816 | I>T | No |
ClinGen gnomAD |
|
rs571399892 CA8376796 |
1816 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 1820 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8376795 rs765135062 |
1821 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1190125190 CA398041648 |
1823 | I>T | No |
ClinGen TOPMed |
|
CA8376793 rs149954707 |
1828 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8376792 rs763641712 |
1828 | E>V | No |
ClinGen ExAC gnomAD |
|
rs370383494 CA287621976 |
1830 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
CA398041599 rs1191130695 |
1831 | E>K | No |
ClinGen gnomAD |
|
rs1253699514 CA398041591 |
1832 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs1213033973 CA398041583 |
1833 | E>K | No |
ClinGen gnomAD |
|
CA398041573 rs1242717355 |
1834 | A>P | No |
ClinGen gnomAD |
|
TCGA novel | 1834 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747160171 CA287620540 |
1837 | R>Q | No |
ClinGen gnomAD |
|
rs756085730 CA8376772 |
1839 | A>D | No |
ClinGen ExAC gnomAD |
|
rs764007614 CA8376773 |
1839 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM252630 rs767038599 CA8376770 |
1840 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs977564720 CA287620499 |
1842 | K>T | No |
ClinGen Ensembl |
|
CA8376768 rs375000437 |
1843 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398041109 rs560843007 |
1844 | V>F | No |
ClinGen ExAC gnomAD |
|
CA8376767 rs560843007 |
1844 | V>L | No |
ClinGen ExAC gnomAD |
|
CA8376766 rs766707630 |
1845 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs763285249 CA8376765 |
1846 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA398041084 rs1410249872 |
1846 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8376764 rs773763080 |
1847 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1249383948 CA398041044 |
1849 | K>N | No |
ClinGen gnomAD |
|
CA398040981 rs776800717 |
1854 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776800717 CA8376760 |
1854 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150611071 CA8376761 |
1854 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
rs768884896 CA8376759 |
1855 | F>C | No |
ClinGen ExAC gnomAD |
|
rs747198706 CA8376758 |
1855 | F>L | No |
ClinGen ExAC gnomAD |
|
rs780485663 CA398040960 |
1856 | M>K | No |
ClinGen ExAC gnomAD |
|
rs780485663 CA8376757 |
1856 | M>T | No |
ClinGen ExAC gnomAD |
|
CA398040929 rs1428681356 |
1858 | V>A | No |
ClinGen TOPMed |
|
CA8376756 rs770849560 |
1858 | V>I | No |
ClinGen ExAC |
|
CA8376754 rs755958494 |
1861 | E>D | No |
ClinGen ExAC gnomAD |
|
rs748972290 CA8376755 |
1861 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM986319 rs780650576 CA8376752 |
1862 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA8376751 rs780650576 |
1862 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1356493580 CA398040867 |
1862 | R>H | No |
ClinGen gnomAD |
|
CA8376748 rs191086005 |
1865 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1159866671 COSM1216118 CA398040826 |
1865 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA398040795 rs762670904 |
1867 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8376744 rs369706442 |
1868 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1869 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1475444692 CA398040742 |
1871 | Q>E | No |
ClinGen gnomAD |
|
CA8376720 rs764632417 |
1873 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287619099 rs764632417 |
1873 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287619097 rs1024292993 |
1873 | E>V | No |
ClinGen Ensembl |
|
rs1385945186 CA398040561 |
1874 | K>E | No |
ClinGen TOPMed |
|
rs1441574134 CA398040546 |
1875 | A>G | No |
ClinGen gnomAD |
|
rs1291585056 CA398040540 |
1876 | N>S | No |
ClinGen gnomAD |
|
CA8376716 rs371705630 |
1877 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8376714 rs769462957 |
1878 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8376712 rs748002999 |
1884 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376711 rs776414061 |
1884 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398039979 rs1463674290 |
1888 | E>K | No |
ClinGen TOPMed |
|
CA8376709 rs746969925 |
1889 | A>G | No |
ClinGen ExAC gnomAD |
|
CA8376708 rs139898919 |
1892 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778680463 CA8376706 |
1893 | A>G | No |
ClinGen ExAC TOPMed |
|
CA8376707 rs757963661 |
1893 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376705 COSM986317 rs778680463 |
1893 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
CA8376703 rs535259525 |
1894 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235028445 CA398039883 |
1895 | R>C | No |
ClinGen gnomAD |
|
rs753298336 CA8376700 |
1895 | R>H | No |
ClinGen ExAC gnomAD |
|
rs753298336 CA8376701 |
1895 | R>L | No |
ClinGen ExAC gnomAD |
|
CA287618994 rs970243784 |
1896 | A>T | No |
ClinGen TOPMed |
|
CA8376699 rs767475330 |
1897 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1410027751 CA398039847 |
1898 | A>T | No |
ClinGen gnomAD |
|
rs774432735 CA8376697 |
1898 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376696 rs766555239 |
1899 | S>F | No |
ClinGen ExAC gnomAD |
|
rs763174636 CA8376695 |
1900 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1173737598 CA398039830 |
1901 | R>C | No |
ClinGen gnomAD |
|
rs1322152286 CA398039825 |
1902 | K>E | No |
ClinGen TOPMed |
|
rs549746103 CA287618972 |
1905 | R>Q | No |
ClinGen TOPMed |
|
rs768468013 CA8376693 |
1905 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8376691 rs775543517 |
1910 | A>V | No |
ClinGen ExAC |
|
rs1251720180 CA398039762 |
1911 | T>I | No |
ClinGen gnomAD |
|
CA8376687 rs201138840 |
1912 | E>D | No |
ClinGen 1000Genomes |
|
rs778816874 CA287618938 |
1912 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1268991775 CA398039750 |
1913 | A>V | No |
ClinGen TOPMed |
|
rs1355392161 CA398039745 |
1914 | N>S | No |
ClinGen TOPMed |
|
CA8376685 rs770661544 |
1915 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376684 rs748983002 |
1916 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778253501 CA8376683 |
1917 | L>P | No |
ClinGen ExAC gnomAD |
|
rs367919911 CA8376682 |
1919 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398039706 rs1287490358 |
1920 | E>D | No |
ClinGen gnomAD |
|
CA398039712 rs1249074738 |
1920 | E>K | No |
ClinGen TOPMed |
|
rs781756908 CA8376680 |
1921 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750680207 CA8376675 |
1927 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8376676 RCV000756372 rs763121137 |
1927 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs762039635 CA8376653 |
1929 | R>S | No |
ClinGen ExAC gnomAD |
|
rs774205864 CA8376649 |
1930 | R>L | No |
ClinGen ExAC gnomAD |
|
rs774205864 CA8376650 |
1930 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs199834633 CA8376651 |
1930 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1397238630 CA398039634 |
1931 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs762618977 CA398039626 |
1932 | G>A | No |
ClinGen ExAC gnomAD |
|
rs762618977 CA8376647 |
1932 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1389025741 CA398039623 |
1933 | P>S | No |
ClinGen gnomAD |
|
rs78787833 CA8376645 |
1938 | S>P | No |
ClinGen ExAC gnomAD |
|
COSM294587 CA8376644 rs370970711 |
1940 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8376643 rs777012280 |
1941 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1471808031 CA398039572 |
1941 | S>P | No |
ClinGen gnomAD |
|
CA8376641 rs747525947 |
1943 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376642 rs768939763 |
1943 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148348930 CA8376640 |
1944 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758465342 CA8376639 |
1944 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758465342 CA398039556 |
1944 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8376638 rs778990035 |
1945 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs778990035 CA8376637 |
1945 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs757464782 CA8376636 |
1945 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235777255 CA398039547 |
1946 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA398039549 rs1271861199 |
1946 | L>V | No |
ClinGen gnomAD |
|
rs1315255260 CA398039533 |
1948 | L>P | No |
ClinGen Ensembl |
|
CA398039513 rs1300038693 |
1951 | A>G | No |
ClinGen TOPMed |
|
CA8376634 rs144361331 |
1952 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754789779 CA8376633 |
1954 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs766352510 CA8376631 |
1957 | D>N | No |
ClinGen ExAC |
|
rs766352510 CA287617720 |
1957 | D>Y | No |
ClinGen ExAC |
|
rs1317908442 CA398039476 |
1958 | D>N | No |
ClinGen gnomAD |
|
CA8376627 rs764871429 |
1962 | S>R | No |
ClinGen ExAC gnomAD |
|
rs149634202 CA8376628 |
1962 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8376625 rs776194681 |
1964 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1965 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398039411 rs1597576993 |
1967 | V>I | No |
ClinGen Ensembl |
|
rs145902144 CA287617633 |
1968 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398039401 rs1487161756 |
1968 | N>S | No |
ClinGen TOPMed |
|
CA8376620 rs377519657 |
1969 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA398039386 rs1479466753 |
1970 | T>M | No |
ClinGen TOPMed |
|
CA8376618 rs757333170 |
1971 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs749514301 CA8376617 |
1971 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs979552016 CA287617587 |
1973 | P>L | No |
ClinGen TOPMed |
|
CA8376616 rs559508716 |
1973 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398039367 rs1343446178 |
1974 | Q>* | No |
ClinGen gnomAD |
|
rs756363491 CA8376615 |
1976 | E>* | No |
ClinGen ExAC gnomAD |
|
rs766299041 CA8376613 |
1976 | E>D | No |
ClinGen ExAC gnomAD |
|
rs747974242 CA8376611 |
1976 | E>K | No |
ClinGen ExAC gnomAD |
No associated diseases with P35580
11 regional properties for P35580
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | Thrombospondin type-1 (TSP1) repeat | 389 - 444 | IPR000884-1 |
repeat | Thrombospondin type-1 (TSP1) repeat | 693 - 748 | IPR000884-2 |
repeat | Thrombospondin type-1 (TSP1) repeat | 747 - 810 | IPR000884-3 |
repeat | Thrombospondin type-1 (TSP1) repeat | 904 - 959 | IPR000884-4 |
repeat | Thrombospondin type-1 (TSP1) repeat | 958 - 1019 | IPR000884-5 |
repeat | Thrombospondin type-1 (TSP1) repeat | 1078 - 1137 | IPR000884-6 |
domain | Peptidase M12B, ADAM/reprolysin | 74 - 291 | IPR001590 |
domain | ADAM, cysteine-rich domain | 305 - 379 | IPR006586 |
domain | ADAMTS/ADAMTS-like, Spacer 1 | 563 - 684 | IPR010294 |
domain | ADAMTS, cysteine-rich domain 2 | 306 - 376 | IPR041645 |
domain | ADAMTS/ADAMTS-like, cysteine-rich domain 3 | 446 - 560 | IPR045371 |
14 GO annotations of cellular component
Name | Definition |
---|---|
actomyosin | Any complex of actin, myosin, and accessory proteins. |
cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
myosin complex | A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes. |
myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
myosin II filament | A bipolar filament composed of myosin II molecules. |
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. |
stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
8 GO annotations of molecular function
Name | Definition |
---|---|
actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
ADP binding | Binding to ADP, adenosine 5'-diphosphate. |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
mRNA 5'-UTR binding | Binding to an mRNA molecule at its 5' untranslated region. |
RNA stem-loop binding | Binding to a stem-loop in an RNA molecule. An RNA stem-loop is a secondary RNA structure consisting of a double-stranded RNA (dsRNA) stem and a terminal loop. |
6 GO annotations of biological process
Name | Definition |
---|---|
actin filament-based movement | Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
actomyosin structure 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 containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
positive regulation of protein secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. |
regulation of cell shape | Any process that modulates the surface configuration of a cell. |
57 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
Q02440 | MYO5A | Unconventional myosin-Va | Gallus gallus (Chicken) | SS |
P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
Q5U651 | RASIP1 | Ras-interacting protein 1 | Homo sapiens (Human) | PR |
B0I1T2 | MYO1G | Unconventional myosin-Ig | Homo sapiens (Human) | PR |
Q9NQX4 | MYO5C | Unconventional myosin-Vc | Homo sapiens (Human) | SS |
Q9ULV0 | MYO5B | Unconventional myosin-Vb | Homo sapiens (Human) | SS |
Q9Y4I1 | MYO5A | Unconventional myosin-Va | Homo sapiens (Human) | SS |
P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
Q3U0S6 | Rasip1 | Ras-interacting protein 1 | Mus musculus (Mouse) | PR |
P21271 | Myo5b | Unconventional myosin-Vb | Mus musculus (Mouse) | SS |
Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
Q99104 | Myo5a | Unconventional myosin-Va | Mus musculus (Mouse) | EV |
Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
P70569 | Myo5b | Unconventional myosin-Vb | Rattus norvegicus (Rat) | SS |
P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
Q9M2K0 | XI-J | Myosin-16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAQRTGLEDP | ERYLFVDRAV | IYNPATQADW | TAKKLVWIPS | ERHGFEAASI | KEERGDEVMV |
70 | 80 | 90 | 100 | 110 | 120 |
ELAENGKKAM | VNKDDIQKMN | PPKFSKVEDM | AELTCLNEAS | VLHNLKDRYY | SGLIYTYSGL |
130 | 140 | 150 | 160 | 170 | 180 |
FCVVINPYKN | LPIYSENIIE | MYRGKKRHEM | PPHIYAISES | AYRCMLQDRE | DQSILCTGES |
190 | 200 | 210 | 220 | 230 | 240 |
GAGKTENTKK | VIQYLAHVAS | SHKGRKDHNI | PGELERQLLQ | ANPILESFGN | AKTVKNDNSS |
250 | 260 | 270 | 280 | 290 | 300 |
RFGKFIRINF | DVTGYIVGAN | IETYLLEKSR | AVRQAKDERT | FHIFYQLLSG | AGEHLKSDLL |
310 | 320 | 330 | 340 | 350 | 360 |
LEGFNNYRFL | SNGYIPIPGQ | QDKDNFQETM | EAMHIMGFSH | EEILSMLKVV | SSVLQFGNIS |
370 | 380 | 390 | 400 | 410 | 420 |
FKKERNTDQA | SMPENTVAQK | LCHLLGMNVM | EFTRAILTPR | IKVGRDYVQK | AQTKEQADFA |
430 | 440 | 450 | 460 | 470 | 480 |
VEALAKATYE | RLFRWLVHRI | NKALDRTKRQ | GASFIGILDI | AGFEIFELNS | FEQLCINYTN |
490 | 500 | 510 | 520 | 530 | 540 |
EKLQQLFNHT | MFILEQEEYQ | REGIEWNFID | FGLDLQPCID | LIERPANPPG | VLALLDEECW |
550 | 560 | 570 | 580 | 590 | 600 |
FPKATDKTFV | EKLVQEQGSH | SKFQKPRQLK | DKADFCIIHY | AGKVDYKADE | WLMKNMDPLN |
610 | 620 | 630 | 640 | 650 | 660 |
DNVATLLHQS | SDRFVAELWK | DVDRIVGLDQ | VTGMTETAFG | SAYKTKKGMF | RTVGQLYKES |
670 | 680 | 690 | 700 | 710 | 720 |
LTKLMATLRN | TNPNFVRCII | PNHEKRAGKL | DPHLVLDQLR | CNGVLEGIRI | CRQGFPNRIV |
730 | 740 | 750 | 760 | 770 | 780 |
FQEFRQRYEI | LTPNAIPKGF | MDGKQACERM | IRALELDPNL | YRIGQSKIFF | RAGVLAHLEE |
790 | 800 | 810 | 820 | 830 | 840 |
ERDLKITDII | IFFQAVCRGY | LARKAFAKKQ | QQLSALKVLQ | RNCAAYLKLR | HWQWWRVFTK |
850 | 860 | 870 | 880 | 890 | 900 |
VKPLLQVTRQ | EEELQAKDEE | LLKVKEKQTK | VEGELEEMER | KHQQLLEEKN | ILAEQLQAET |
910 | 920 | 930 | 940 | 950 | 960 |
ELFAEAEEMR | ARLAAKKQEL | EEILHDLESR | VEEEEERNQI | LQNEKKKMQA | HIQDLEEQLD |
970 | 980 | 990 | 1000 | 1010 | 1020 |
EEEGARQKLQ | LEKVTAEAKI | KKMEEEILLL | EDQNSKFIKE | KKLMEDRIAE | CSSQLAEEEE |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
KAKNLAKIRN | KQEVMISDLE | ERLKKEEKTR | QELEKAKRKL | DGETTDLQDQ | IAELQAQIDE |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
LKLQLAKKEE | ELQGALARGD | DETLHKNNAL | KVVRELQAQI | AELQEDFESE | KASRNKAEKQ |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
KRDLSEELEA | LKTELEDTLD | TTAAQQELRT | KREQEVAELK | KALEEETKNH | EAQIQDMRQR |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
HATALEELSE | QLEQAKRFKA | NLEKNKQGLE | TDNKELACEV | KVLQQVKAES | EHKRKKLDAQ |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
VQELHAKVSE | GDRLRVELAE | KASKLQNELD | NVSTLLEEAE | KKGIKFAKDA | ASLESQLQDT |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
QELLQEETRQ | KLNLSSRIRQ | LEEEKNSLQE | QQEEEEEARK | NLEKQVLALQ | SQLADTKKKV |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
DDDLGTIESL | EEAKKKLLKD | AEALSQRLEE | KALAYDKLEK | TKNRLQQELD | DLTVDLDHQR |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
QVASNLEKKQ | KKFDQLLAEE | KSISARYAEE | RDRAEAEARE | KETKALSLAR | ALEEALEAKE |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
EFERQNKQLR | ADMEDLMSSK | DDVGKNVHEL | EKSKRALEQQ | VEEMRTQLEE | LEDELQATED |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
AKLRLEVNMQ | AMKAQFERDL | QTRDEQNEEK | KRLLIKQVRE | LEAELEDERK | QRALAVASKK |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
KMEIDLKDLE | AQIEAANKAR | DEVIKQLRKL | QAQMKDYQRE | LEEARASRDE | IFAQSKESEK |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
KLKSLEAEIL | QLQEELASSE | RARRHAEQER | DELADEITNS | ASGKSALLDE | KRRLEARIAQ |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
LEEELEEEQS | NMELLNDRFR | KTTLQVDTLN | AELAAERSAA | QKSDNARQQL | ERQNKELKAK |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
LQELEGAVKS | KFKATISALE | AKIGQLEEQL | EQEAKERAAA | NKLVRRTEKK | LKEIFMQVED |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
ERRHADQYKE | QMEKANARMK | QLKRQLEEAE | EEATRANASR | RKLQRELDDA | TEANEGLSRE |
1930 | 1940 | 1950 | 1960 | 1970 | |
VSTLKNRLRR | GGPISFSSSR | SGRRQLHLEG | ASLELSDDDT | ESKTSDVNET | QPPQSE |