Q5VYS8
Gene name |
TUT7 |
Protein name |
Terminal uridylyltransferase 7 |
Names |
TUTase 7, Zinc finger CCHC domain-containing protein 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79670 |
EC number |
2.7.7.52: Nucleotidyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q5VYS8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5W0B | X-ray | 261 A | A/B/C | 983-1365 | PDB |
| 5W0M | X-ray | 230 A | A/B/C | 983-1365 | PDB |
| 5W0N | X-ray | 250 A | A/B/C | 963-1365 | PDB |
| 5W0O | X-ray | 249 A | A/B | 983-1365 | PDB |
| AF-Q5VYS8-F1 | Predicted | AlphaFoldDB |
942 variants for Q5VYS8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs779155171 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162919713 CA373965774 |
2 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 3 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757461681 CA5109356 |
5 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA195565930 rs145203227 |
10 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5109355 rs145203227 |
10 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142251867 CA5109354 |
12 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201201332 CA5109353 |
12 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373965681 rs201201332 |
12 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5109352 rs753020716 |
13 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs774587503 CA195565913 |
14 | K>E | No |
ClinGen TOPMed |
|
|
rs1244526966 CA373965644 |
15 | D>E | No |
ClinGen TOPMed |
|
|
rs1365365704 CA373965647 |
15 | D>G | No |
ClinGen TOPMed |
|
|
CA195565889 rs753161080 |
16 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767133738 CA5109350 |
16 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057214856 CA195565881 |
17 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs143304464 CA5109349 |
18 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373965605 rs1207139166 |
19 | M>T | No |
ClinGen TOPMed |
|
|
CA5109347 rs751025075 |
19 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482057472 CA373965580 |
21 | D>A | No |
ClinGen gnomAD |
|
|
CA373965574 rs1282088250 |
22 | D>H | No |
ClinGen gnomAD |
|
|
CA373965572 rs1282088250 |
22 | D>N | No |
ClinGen gnomAD |
|
|
rs765841200 CA5109346 |
23 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs762512323 CA5109345 |
24 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA373965531 rs1241737151 |
24 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773185841 CA5109344 |
25 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195565862 rs2378699 |
25 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195565861 rs143390882 |
27 | G>S | No |
ClinGen ESP TOPMed |
|
|
rs927433414 CA195565860 |
29 | P>L | No |
ClinGen TOPMed |
|
|
CA5109343 rs149202228 |
30 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2889967 CA195565856 |
30 | Q>H | No |
ClinGen gnomAD |
|
|
rs2378698 CA195565857 |
30 | Q>P | No |
ClinGen Ensembl |
|
|
rs2378698 CA373965395 |
30 | Q>R | No |
ClinGen Ensembl |
|
|
CA5109341 rs776319572 |
32 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761600677 CA5109342 |
32 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2378697 CA195565830 |
33 | Y>F | No |
ClinGen Ensembl |
|
|
CA373965303 rs1359597267 |
34 | L>* | No |
ClinGen gnomAD |
|
|
CA373965270 rs1322150245 |
35 | I>M | No |
ClinGen TOPMed |
|
|
CA5109340 rs772370653 |
35 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA373965253 rs1407110267 |
36 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA195565819 rs931556377 |
37 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA195565800 rs2378696 |
38 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs905498668 CA195565794 |
38 | D>E | No |
ClinGen Ensembl |
|
|
rs746065141 CA5109339 |
38 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA195565793 rs2378695 |
40 | A>G | No |
ClinGen 1000Genomes |
|
|
CA195565792 rs2378695 VAR_053753 |
40 | A>V | No |
ClinGen UniProt 1000Genomes dbSNP |
|
|
CA373965164 rs1186206491 |
41 | K>N | No |
ClinGen gnomAD |
|
|
CA373965161 rs1421612307 |
42 | G>S | No |
ClinGen gnomAD |
|
|
rs2378694 CA195565791 |
44 | G>A | No |
ClinGen Ensembl |
|
|
rs1188145613 CA373965017 |
48 | E>D | No |
ClinGen gnomAD |
|
|
CA195565786 rs2378693 |
48 | E>K | No |
ClinGen Ensembl |
|
|
CA195565780 rs2378692 |
51 | L>F | No |
ClinGen Ensembl |
|
|
rs1023869795 CA195565769 |
54 | K>E | No |
ClinGen Ensembl |
|
| rs369091628 | 54 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771131890 CA195565737 |
56 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771131890 CA5109337 |
56 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207299882 CA373964932 |
57 | T>I | No |
ClinGen gnomAD |
|
|
rs2378691 CA195565732 |
57 | T>P | No |
ClinGen 1000Genomes |
|
|
rs2378691 CA195565729 |
57 | T>S | No |
ClinGen 1000Genomes |
|
|
CA373964922 rs1392084844 |
59 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265432712 CA373964917 |
60 | N>Y | No |
ClinGen gnomAD |
|
|
CA5109336 rs749386390 |
61 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA195565695 rs1052561423 |
63 | N>S | No |
ClinGen Ensembl |
|
|
rs935474599 CA195565689 |
65 | P>H | No |
ClinGen Ensembl |
|
|
CA195565687 rs2889966 |
66 | R>K | No |
ClinGen Ensembl |
|
|
rs375238747 CA5109333 |
70 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375238747 CA5109332 |
70 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373964847 rs1428363799 |
71 | A>P | No |
ClinGen gnomAD |
|
|
rs1338754762 CA373964845 |
71 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373964840 rs932006399 |
72 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA195565663 rs932006399 |
72 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373964833 rs1564107888 |
73 | S>P | No |
ClinGen Ensembl |
|
|
rs1162512699 CA373964826 |
74 | S>G | No |
ClinGen gnomAD |
|
|
rs755372864 CA5109331 |
74 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751203925 CA5109330 |
76 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757863738 CA5109328 |
77 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA373964799 rs1260651519 |
78 | A>S | No |
ClinGen gnomAD |
|
|
CA373964776 rs1588034374 |
81 | N>T | No |
ClinGen Ensembl |
|
|
CA195565630 rs145331258 |
83 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5109326 rs145331258 |
83 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749904383 CA5109327 |
83 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373964757 rs1208521513 |
84 | Y>C | No |
ClinGen gnomAD |
|
|
rs1267116436 CA373964760 |
84 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373964738 rs761678664 |
86 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373964732 rs1273848344 |
87 | P>L | No |
ClinGen gnomAD |
|
|
CA195565622 rs941917171 |
88 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 89 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5109323 rs763951582 |
89 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373964716 rs1326745314 |
90 | M>L | No |
ClinGen gnomAD |
|
|
CA373964698 rs1438568010 |
92 | D>A | No |
ClinGen gnomAD |
|
|
rs1438568010 CA373964697 |
92 | D>G | No |
ClinGen gnomAD |
|
|
rs371050255 CA5109321 |
93 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749325538 CA5109319 |
94 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5109320 rs771293279 |
94 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA373964679 rs1245718284 |
95 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs150436658 CA195565595 |
96 | D>V | No |
ClinGen ESP |
|
|
rs191747222 CA5109318 |
99 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373964644 rs1303950079 COSM1490202 |
99 | K>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs781711083 CA5109315 |
105 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1470199287 CA373964598 |
106 | H>Y | No |
ClinGen gnomAD |
|
|
rs1254235921 CA373964576 |
109 | N>S | No |
ClinGen gnomAD |
|
|
CA5109314 rs141619272 |
111 | D>V | No |
ClinGen ESP ExAC |
|
|
rs1290648051 CA373964554 |
112 | N>K | No |
ClinGen TOPMed |
|
|
rs140978834 CA5109313 |
112 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186823288 CA5109312 |
114 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5109310 COSM287141 rs749897372 |
119 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA373964498 rs1344618774 |
120 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373690069 CA195565537 |
121 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA373964492 rs1273996993 |
121 | R>S | No |
ClinGen gnomAD |
|
|
rs1231868739 CA373964468 |
125 | I>T | No |
ClinGen gnomAD |
|
|
rs764631192 CA373964453 |
127 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs764631192 CA5109309 |
127 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373964438 rs1210824615 |
129 | R>S | No |
ClinGen TOPMed |
|
|
rs756832197 CA5109308 |
130 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA5109307 rs753824494 |
130 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195565505 rs1032127384 |
132 | S>F | No |
ClinGen TOPMed |
|
|
rs1330333745 CA373964393 |
136 | N>D | No |
ClinGen gnomAD |
|
|
CA5109306 rs764186753 |
136 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370276327 CA5109305 |
138 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA195565498 rs979862289 |
138 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA373964370 rs1189160391 |
139 | G>D | No |
ClinGen TOPMed |
|
|
CA5109304 rs752548118 |
139 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1588033742 CA373964344 |
143 | Q>K | No |
ClinGen Ensembl |
|
|
CA373964325 rs1455900150 |
145 | T>K | No |
ClinGen gnomAD |
|
|
CA373964322 rs1564107169 |
146 | R>G | No |
ClinGen Ensembl |
|
|
rs766672211 CA373964313 |
147 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5109303 rs766672211 |
147 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969718854 CA195565471 |
147 | G>S | No |
ClinGen Ensembl |
|
|
CA373964304 rs1588033653 |
148 | C>W | No |
ClinGen Ensembl |
|
|
rs144572642 CA5109302 |
149 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769754248 CA5109300 |
150 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5109301 rs199687338 |
150 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195565443 rs1021238837 |
153 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 153 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5109299 rs762007355 |
154 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373964265 rs1276842358 |
155 | F>L | No |
ClinGen gnomAD |
|
|
rs777061932 CA5109298 |
156 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA373964246 rs1588033525 |
158 | D>A | No |
ClinGen Ensembl |
|
|
rs1280799744 CA373964247 |
158 | D>H | No |
ClinGen gnomAD |
|
|
CA195565409 rs966948420 |
159 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5109296 rs201566816 |
160 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201566816 COSM3780173 CA373964233 |
160 | T>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5109295 rs142341283 |
161 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1031189976 CA195565389 |
161 | S>N | No |
ClinGen Ensembl |
|
|
rs745478644 CA5109294 |
162 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373964224 rs1339498384 |
162 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373964222 rs1219910861 |
163 | E>Q | No |
ClinGen TOPMed |
|
|
COSM753969 CA195565321 rs1020835849 |
165 | T>M | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA373964186 rs1465436619 |
168 | M>K | No |
ClinGen Ensembl |
|
|
CA373963921 rs1588015323 |
174 | E>V | No |
ClinGen Ensembl |
|
|
rs151232839 CA5109255 |
175 | N>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5109254 rs774811677 |
176 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373963872 rs1430542061 |
181 | R>K | No |
ClinGen gnomAD |
|
|
rs1186926017 CA373963851 |
184 | K>T | No |
ClinGen gnomAD |
|
|
rs1353741708 CA373963845 |
185 | P>T | No |
ClinGen TOPMed |
|
|
CA5109252 rs201715276 |
186 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5109253 rs370301209 |
186 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215013588 CA373963832 |
187 | K>M | No |
ClinGen gnomAD |
|
|
rs61747122 RCV000965109 CA5109249 |
188 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5109251 rs773043739 |
188 | T>S | No |
ClinGen ExAC |
|
|
rs61747122 CA5109250 |
188 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373963826 rs1280824907 |
189 | R>G | No |
ClinGen TOPMed |
|
|
rs1250282994 CA15602817 |
190 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1253827556 CA373963812 |
191 | E>K | No |
ClinGen gnomAD |
|
|
CA5109248 rs780921499 |
192 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5109247 rs371940964 |
201 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375488484 CA5109245 |
205 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048638948 CA195560806 |
206 | E>D | No |
ClinGen TOPMed |
|
|
rs1399574621 CA373963697 |
207 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373963692 rs1253448307 |
208 | V>I | No |
ClinGen TOPMed |
|
|
rs573749109 CA195560775 |
211 | T>A | No |
ClinGen Ensembl |
|
|
rs754054941 CA5109243 |
211 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA373963664 rs1170863673 |
212 | K>N | No |
ClinGen gnomAD |
|
|
rs777924923 CA373963656 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs941790084 CA195560726 |
213 | E>K | No |
ClinGen Ensembl |
|
|
rs983094223 CA195560706 |
217 | L>S | No |
ClinGen Ensembl |
|
|
CA5109239 rs767872713 |
218 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs202080089 CA5109238 |
219 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1454674483 CA373963617 |
220 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373963619 rs1454674483 |
220 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766822670 CA5109236 |
222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375411108 CA5109233 |
226 | R>T | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs192099334 CA5109231 |
227 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768097673 CA5109230 |
229 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771841351 CA5109227 |
234 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776184649 CA5109213 |
235 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195560223 COSM287565 rs776184649 |
235 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1157805468 CA373963495 |
236 | P>L | No |
ClinGen gnomAD |
|
|
rs139153052 CA5109212 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5109211 rs529751930 |
238 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373963474 rs1167701091 |
240 | P>A | No |
ClinGen TOPMed |
|
|
CA5109209 rs772010962 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394707353 CA373963466 |
241 | T>I | No |
ClinGen TOPMed |
|
|
CA5109208 rs745612057 |
241 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1363825302 CA373963446 |
244 | Y>F | No |
ClinGen gnomAD |
|
|
rs1411885801 CA373963429 |
247 | R>G | No |
ClinGen TOPMed |
|
|
rs377220747 CA195560171 |
248 | L>F | No |
ClinGen ESP gnomAD |
|
|
rs377220747 CA373963421 |
248 | L>V | No |
ClinGen ESP gnomAD |
|
|
CA5109205 rs748376571 |
250 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781323313 CA5109204 |
250 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA373963399 rs755077966 |
251 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5109203 rs755077966 |
251 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA195560146 rs1006079147 |
256 | I>T | No |
ClinGen Ensembl |
|
|
CA373963359 rs1365160653 |
256 | I>V | No |
ClinGen TOPMed |
|
|
CA5109202 rs751608191 |
257 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195560132 rs988777004 |
260 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 261 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5109201 rs780661622 |
263 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756079105 CA195560115 |
263 | I>V | No |
ClinGen Ensembl |
|
|
CA5109200 rs759007947 |
267 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5109199 rs751009735 |
268 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195560107 rs1047504972 |
269 | K>E | No |
ClinGen TOPMed |
|
|
rs1588012354 CA373963158 |
270 | K>I | No |
ClinGen Ensembl |
|
|
rs1294211562 CA373963145 |
271 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373963139 rs1341161992 |
272 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195559756 rs763655153 |
275 | K>E | No |
ClinGen Ensembl |
|
|
CA5109184 rs768786445 |
277 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5109183 rs747049274 |
283 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs758602115 CA5109181 |
284 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA373962898 rs1438640659 |
286 | P>L | No |
ClinGen gnomAD |
|
|
CA373962892 rs1198765083 |
287 | P>A | No |
ClinGen TOPMed |
|
|
rs1427189763 CA373962889 |
287 | P>Q | No |
ClinGen TOPMed |
|
|
CA373962894 rs1198765083 |
287 | P>T | No |
ClinGen TOPMed |
|
|
rs1323678948 CA373962882 |
288 | T>A | No |
ClinGen gnomAD |
|
|
CA5109180 rs78187627 |
288 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373962873 rs1588010551 |
289 | P>A | No |
ClinGen Ensembl |
|
|
CA373962865 rs1176534324 |
289 | P>L | No |
ClinGen TOPMed |
|
|
CA373962843 rs757575568 |
291 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763753780 CA5109176 |
296 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA195559668 rs948452921 |
296 | G>C | No |
ClinGen Ensembl |
|
|
CA373962752 rs1300738991 |
299 | I>V | No |
ClinGen TOPMed |
|
|
rs1366117592 CA373962732 |
300 | D>A | No |
ClinGen TOPMed |
|
|
CA5109175 rs371329327 |
301 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 302 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373962699 rs1302433956 |
303 | V>L | No |
ClinGen TOPMed |
|
|
CA5109174 rs752386065 |
305 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903570419 CA195559667 |
305 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914214054 CA195559651 |
309 | H>P | No |
ClinGen TOPMed |
|
|
CA5109172 rs759102298 |
310 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373962601 rs1289053596 |
312 | N>H | No |
ClinGen gnomAD |
|
|
rs1221933903 CA373962543 |
315 | Q>R | No |
ClinGen TOPMed |
|
|
rs1377583136 CA373962506 |
318 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766227229 CA5109170 |
321 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762764983 CA5109169 |
321 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5109168 rs772915611 |
322 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA373962445 rs1373149418 |
323 | M>V | No |
ClinGen gnomAD |
|
|
CA5109167 rs563321567 |
325 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5109164 rs772276191 |
326 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs150701408 CA5109165 |
326 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150701408 CA5109166 |
326 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373962414 rs1330397024 |
327 | F>C | No |
ClinGen gnomAD |
|
|
CA373962391 rs1426563876 |
329 | H>P | No |
ClinGen TOPMed |
|
|
rs35653710 CA195558312 |
334 | C>W | No |
ClinGen Ensembl |
|
|
CA195558319 rs141994664 |
334 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772437076 CA5109142 |
339 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761197701 CA5109141 |
343 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112306304 CA5109140 |
345 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199887046 CA5109137 CA5109138 |
348 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs202154191 CA5109136 |
349 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5109135 rs748513865 |
349 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373961878 rs1312884523 |
356 | D>Y | No |
ClinGen TOPMed |
|
|
CA373961848 rs1445245185 |
358 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751269496 CA5109132 |
362 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374368241 CA5109133 |
362 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373960543 rs1367971547 |
363 | M>L | No |
ClinGen gnomAD |
|
|
CA195556802 rs753003062 |
365 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373960321 rs1229257977 |
372 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 374 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195556796 rs765354660 |
375 | C>R | No |
ClinGen Ensembl |
|
|
rs757292298 CA5109107 |
381 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757292298 CA5109108 |
381 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5109106 rs753865676 |
382 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5109105 rs763959648 |
384 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763959648 CA373959886 |
384 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA373959828 rs940058115 |
387 | A>G | No |
ClinGen gnomAD |
|
|
rs940058115 CA195555990 |
387 | A>V | No |
ClinGen gnomAD |
|
|
CA5109104 rs760574434 |
388 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751724559 CA5109103 |
389 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | F>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444662625 CA373959777 |
390 | H>R | No |
ClinGen gnomAD |
|
|
CA373959739 rs1564090083 |
392 | R>S | No |
ClinGen Ensembl |
|
|
rs143742419 CA5109102 |
395 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75302229 CA195555980 |
398 | C>F | No |
ClinGen Ensembl |
|
|
CA5109099 rs765344339 |
400 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA373959575 rs1160518689 |
402 | Q>R | No |
ClinGen TOPMed |
|
|
rs890292000 CA195555122 |
403 | S>R | No |
ClinGen Ensembl |
|
|
rs576476359 CA5109072 |
406 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs931739817 CA373959270 |
411 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA195555100 COSM422324 rs931739817 |
411 | A>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 412 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5109070 rs369631683 |
413 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs11999128 CA5109067 |
417 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5109066 rs747853622 |
420 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5109063 rs750641324 |
428 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs941680544 CA373958900 |
434 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs941680544 CA195555006 |
434 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200349326 CA5109061 |
436 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA195554993 rs866068989 |
437 | V>L | No |
ClinGen Ensembl |
|
|
rs764467993 CA5109059 |
438 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5109060 rs753939459 |
438 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs753192584 CA5109057 |
442 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753192584 CA373958726 |
442 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373958665 rs1403220001 |
444 | A>S | No |
ClinGen gnomAD |
|
|
rs762659792 CA373957744 |
448 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762659792 CA5109035 |
448 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs919113809 CA195552310 |
448 | S>N | No |
ClinGen Ensembl |
|
|
CA5109034 rs772785457 |
449 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1564086237 CA373957713 |
450 | D>A | No |
ClinGen Ensembl |
|
|
rs377283750 CA5109033 |
451 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778107333 CA5109032 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778107333 CA5109031 |
451 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279606200 CA373957625 |
455 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373957602 rs1217394605 |
457 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 460 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868372493 CA195552298 |
463 | A>V | No |
ClinGen Ensembl |
|
|
rs1237917174 COSM4139638 CA373957262 |
472 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1182363589 CA373957198 |
475 | E>V | No |
ClinGen TOPMed |
|
|
CA5109026 rs749497606 |
476 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5109025 rs777923164 |
476 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749497606 CA5109027 |
476 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752730875 CA5109023 |
479 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1158323522 CA373957141 |
480 | V>A | No |
ClinGen TOPMed |
|
|
rs1473359590 CA373957148 |
480 | V>I | No |
ClinGen TOPMed |
|
|
rs1416630000 CA373957130 |
481 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 481 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373957122 rs1426004675 |
482 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769929887 CA5109004 |
489 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748215037 CA5109003 |
491 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5109002 rs781385125 |
492 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5109000 rs747501311 |
493 | K>N | No |
ClinGen ExAC |
|
|
CA5109001 rs755155326 |
493 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373956414 rs1187846140 |
496 | N>S | No |
ClinGen gnomAD |
|
|
rs750779168 CA5108997 |
496 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108996 rs756829339 |
498 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA373956398 rs1345332911 |
498 | N>S | No |
ClinGen TOPMed |
|
|
CA373956385 rs1269451184 |
500 | Q>R | No |
ClinGen gnomAD |
|
|
rs763582765 CA5108993 |
503 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760244645 CA5108992 |
510 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs878978126 CA195546912 |
511 | H>D | No |
ClinGen Ensembl |
|
|
CA373956300 rs1213606369 |
512 | T>A | No |
ClinGen TOPMed |
|
|
rs1230324728 CA373956298 |
512 | T>N | No |
ClinGen gnomAD |
|
|
rs767455747 CA5108990 |
513 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5108989 rs560704303 |
514 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5108987 rs770796065 |
516 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108988 rs770796065 |
516 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748293741 CA5108986 |
517 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs377765400 CA5108985 |
518 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768792867 CA5108984 |
519 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892757541 CA195546881 |
520 | G>A | No |
ClinGen TOPMed |
|
|
CA195546874 rs765657868 |
521 | I>V | No |
ClinGen Ensembl |
|
|
rs1197764054 CA373956192 |
523 | K>E | No |
ClinGen TOPMed |
|
|
CA5108983 rs747102334 |
524 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1406941439 | 525 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780663287 CA5108982 |
527 | P>A | No |
ClinGen ExAC |
|
|
CA5108981 rs373205612 |
527 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199585068 CA5108980 |
528 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373956065 rs1478531780 |
530 | T>A | No |
ClinGen TOPMed |
|
|
CA5108978 rs146532116 |
530 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5108976 rs149486999 |
531 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs149486999 CA5108977 |
531 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544962008 CA5108974 |
534 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544962008 CA373955945 |
534 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376187706 CA5108973 |
536 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs530912952 CA5108972 |
536 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1287499801 CA373954642 |
540 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5108956 rs755793691 |
540 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs780541304 CA5108954 |
541 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA195545706 rs75677091 |
543 | V>L | No |
ClinGen gnomAD |
|
|
CA373954615 rs75677091 |
543 | V>M | No |
ClinGen gnomAD |
|
|
CA5108953 rs754572213 |
544 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA373954580 rs1212937236 |
545 | H>Q | No |
ClinGen TOPMed |
|
|
rs949002468 CA195545705 |
545 | H>R | No |
ClinGen Ensembl |
|
|
rs1465459680 CA373954578 |
546 | Q>E | No |
ClinGen gnomAD |
|
|
rs751443994 CA5108952 |
547 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108951 rs766356764 |
548 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762610101 CA5108950 |
549 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750278805 CA5108949 |
551 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA373954488 rs1409834587 |
553 | Q>R | No |
ClinGen gnomAD |
|
|
rs113877876 CA195545692 |
556 | V>A | No |
ClinGen Ensembl |
|
|
rs41310053 CA5108945 |
560 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759667515 CA5108944 |
562 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA373954202 rs1375457461 |
570 | D>Y | No |
ClinGen TOPMed |
|
|
CA5108942 rs771489134 |
574 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373954102 rs1210829754 |
575 | I>V | No |
ClinGen gnomAD |
|
|
CA373954066 rs1328581115 |
576 | R>H | No |
ClinGen gnomAD |
|
|
CA5108941 rs749613140 |
578 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 579 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778080084 CA5108940 |
580 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352142027 CA373953985 |
581 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770189931 CA5108939 |
582 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5108938 rs747781651 |
583 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200763713 CA195545662 |
585 | L>S | No |
ClinGen Ensembl |
|
|
CA195545646 rs892024505 |
590 | K>R | No |
ClinGen TOPMed |
|
|
rs754376979 CA5108936 |
592 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779817903 CA5108934 |
595 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1296783181 CA373953657 |
595 | I>V | No |
ClinGen TOPMed |
|
|
rs1338428003 CA373953221 |
600 | S>C | No |
ClinGen TOPMed |
|
|
rs369824696 CA5108906 |
609 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778999776 CA5108904 |
613 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs778999776 CA373952934 |
613 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs375541478 CA5108903 |
615 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5108902 rs149751959 |
618 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5108901 rs149751959 |
618 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 625 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751777677 CA373952602 |
627 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751777677 CA5108899 |
627 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195544979 rs1046754319 |
633 | H>D | No |
ClinGen Ensembl |
|
|
CA5108894 rs762127904 |
634 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762127904 CA5108895 |
634 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777026458 CA5108893 |
634 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs768953994 CA5108892 |
636 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5108891 rs150985653 |
639 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771642859 CA5108889 |
642 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA373952286 rs1384687918 |
642 | K>N | No |
ClinGen gnomAD |
|
|
rs199527404 CA5108890 |
642 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745387000 CA5108888 |
645 | N>K | No |
ClinGen ExAC |
|
|
CA5108886 rs372250530 |
646 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373952196 rs1386597552 |
648 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA195544941 rs1023132869 |
648 | T>I | No |
ClinGen TOPMed |
|
|
rs1386597552 CA373952200 |
648 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373952166 rs1429690767 |
649 | C>G | No |
ClinGen gnomAD |
|
|
CA373952144 rs1318138860 |
650 | I>N | No |
ClinGen TOPMed |
|
|
rs1318138860 CA373952142 |
650 | I>T | No |
ClinGen TOPMed |
|
|
CA5108883 rs560186330 |
653 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749223528 CA5108884 |
653 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5108882 rs376742250 |
656 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373952033 rs1454783939 |
656 | E>D | No |
ClinGen gnomAD |
|
|
rs1017036268 CA195544929 |
657 | V>I | No |
ClinGen TOPMed |
|
|
rs1368359022 CA373952013 |
658 | I>V | No |
ClinGen gnomAD |
|
|
CA5108881 rs751797750 |
663 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373951854 rs1197072793 |
665 | Q>R | No |
ClinGen gnomAD |
|
|
CA5108880 rs61730257 |
666 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA195544901 rs951148608 |
667 | K>E | No |
ClinGen TOPMed |
|
|
CA195544896 rs750182955 |
668 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs750535574 CA5108878 |
669 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373951786 rs1222872319 |
669 | D>H | No |
ClinGen gnomAD |
|
|
rs765344226 CA5108877 |
670 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA373951763 rs1164394302 |
670 | K>T | No |
ClinGen TOPMed |
|
|
rs762362699 CA5108876 |
671 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 672 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs118052854 CA5108875 |
673 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373951641 rs1587941110 |
676 | L>F | No |
ClinGen Ensembl |
|
|
rs764516147 CA5108874 |
676 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs193087051 CA195544886 |
677 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA195544880 rs372076741 |
679 | G>R | No |
ClinGen ESP |
|
|
CA373951585 rs1409673791 |
680 | P>L | No |
ClinGen gnomAD |
|
|
CA373951551 rs767584897 |
684 | S>G | No |
ClinGen gnomAD |
|
|
CA5108873 rs760952752 |
684 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs767584897 CA195544877 |
684 | S>R | No |
ClinGen gnomAD |
|
|
rs775227185 CA5108872 |
686 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA195544872 rs997888763 |
688 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5108870 rs188666254 |
690 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297487272 CA373951311 |
691 | K>R | No |
ClinGen TOPMed |
|
|
rs773966263 CA5108869 |
692 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232307502 CA373951220 |
695 | L>F | No |
ClinGen TOPMed |
|
|
CA5108868 rs770612785 |
696 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5108867 rs749235332 |
697 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 699 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777634187 CA5108866 |
700 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777634187 CA373951112 |
700 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373951094 rs1472172130 |
701 | A>G | No |
ClinGen gnomAD |
|
|
rs747906637 CA5108864 |
702 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373951063 rs1438278549 |
703 | S>G | No |
ClinGen gnomAD |
|
|
CA373951048 rs1277316233 |
703 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373951026 rs1198161562 |
704 | F>C | No |
ClinGen gnomAD |
|
|
CA5108862 rs758591070 |
710 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 714 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373950808 rs1349061931 |
716 | H>Y | No |
ClinGen gnomAD |
|
|
rs1018490496 CA195544793 |
718 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195544795 rs964278797 |
718 | S>R | No |
ClinGen Ensembl |
|
|
CA373950765 rs1332275311 |
719 | V>I | No |
ClinGen gnomAD |
|
|
rs1485816752 CA373950742 |
720 | H>Q | No |
ClinGen TOPMed |
|
|
CA5108859 rs757350270 |
721 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754305044 CA5108858 |
722 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5108857 rs143252253 |
724 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178667021 CA373950674 CA373950675 |
725 | D>E | No |
ClinGen gnomAD |
|
|
CA589123149 rs1409520730 |
725 | D>V | No |
ClinGen gnomAD |
|
|
rs1488786660 CA373950635 |
728 | Q>P | No |
ClinGen TOPMed |
|
|
CA195544774 rs1005722206 |
730 | D>A | No |
ClinGen Ensembl |
|
|
rs1470474774 CA373950591 |
731 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs61744147 CA5108854 |
737 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs934612334 CA195544767 |
741 | V>I | No |
ClinGen TOPMed |
|
|
CA5108853 rs759241641 |
742 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA373950441 rs1462304593 |
742 | Y>H | No |
ClinGen gnomAD |
|
|
rs770466734 CA373950402 |
744 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108851 rs770466734 |
744 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108849 rs773140978 |
745 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5108850 rs762371432 |
745 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108848 rs769638972 |
746 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373950343 rs1361414375 |
749 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 750 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768500733 CA5108845 |
751 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776390996 CA5108846 |
751 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs576337306 CA5108844 |
752 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 753 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373950251 rs1356943982 |
759 | G>D | No |
ClinGen TOPMed |
|
|
CA373950238 rs1228448033 |
761 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 764 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108839 rs778305965 |
766 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5108838 rs756545766 |
767 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108837 rs753304576 |
769 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108836 rs767979913 |
769 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1243553679 CA373950182 |
770 | G>R | No |
ClinGen gnomAD |
|
|
CA5108834 rs751186781 |
771 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA373950173 rs1451437826 |
771 | E>G | No |
ClinGen gnomAD |
|
|
CA5108835 rs755460109 |
771 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776808343 CA195544665 |
772 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs776808343 CA5108833 |
772 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs762472970 CA5108832 |
772 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776808343 CA373950167 |
772 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761801797 CA195544647 |
774 | V>F | No |
ClinGen Ensembl |
|
|
CA373950151 rs916094979 |
775 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs916094979 CA195544643 |
775 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs556235880 CA373950135 CA5108831 |
777 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764854115 CA5108830 |
778 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1110768 CA5108829 rs761728890 |
779 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5108828 rs375726501 |
779 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5108827 rs143857116 |
780 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs982421973 CA195544618 |
787 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5108825 rs774584682 |
789 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA195544612 rs951090639 |
790 | E>G | No |
ClinGen TOPMed |
|
|
rs749563275 CA5108823 |
791 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195544609 rs948000856 |
792 | F>L | No |
ClinGen gnomAD |
|
|
rs1390660170 CA373950007 |
797 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 797 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186778073 CA373949997 |
798 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 799 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777691353 CA5108822 |
800 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380804842 CA373949919 |
803 | L>P | No |
ClinGen TOPMed |
|
|
CA373949908 rs1225104569 |
804 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5108821 rs149644302 |
806 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA195544591 rs781764595 |
807 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108819 rs781764595 |
807 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108820 rs781764595 |
807 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371448305 CA5108818 CA373949857 |
808 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 808 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309378638 CA373949849 |
809 | K>T | No |
ClinGen gnomAD |
|
|
rs1296336068 CA373949831 |
810 | A>G | No |
ClinGen gnomAD |
|
|
rs751992086 CA5108817 |
811 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373949812 rs1297204331 |
812 | L>I | No |
ClinGen TOPMed |
|
|
rs1018541613 CA195544576 |
812 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766013413 CA5108816 |
813 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757967439 CA5108815 |
814 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 817 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373949738 rs1406609969 |
817 | T>I | No |
ClinGen gnomAD |
|
|
CA5108814 rs750150701 |
818 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs556349133 CA5108812 |
819 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368747887 CA5108813 |
819 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373949713 rs556349133 |
819 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768097210 CA373949712 |
820 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA195544557 rs768097210 |
820 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764044754 CA5108810 |
821 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA373949679 rs1422705600 |
823 | L>P | No |
ClinGen gnomAD |
|
|
rs775118718 CA5108808 |
825 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5108809 rs202050130 |
825 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373949658 rs1278641280 |
826 | S>F | No |
ClinGen TOPMed |
|
|
CA5108806 rs763069281 |
829 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373949625 rs1251978084 |
831 | T>S | No |
ClinGen gnomAD |
|
|
CA5108803 rs748251283 |
832 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5108804 rs769924592 |
832 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5108802 rs781745650 |
835 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108801 rs769316272 |
836 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769316272 CA373949594 |
836 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 841 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373949563 rs1287435130 |
841 | M>V | No |
ClinGen gnomAD |
|
|
CA5108800 rs747589523 |
844 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1375359704 CA373949530 |
846 | E>K | No |
ClinGen gnomAD |
|
|
rs147535547 CA5108797 |
849 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1356909670 CA373949503 |
849 | E>G | No |
ClinGen gnomAD |
|
|
CA195544497 rs923770254 |
849 | E>K | No |
ClinGen Ensembl |
|
|
RCV000901250 rs139212809 CA5108794 |
851 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs915975237 CA195544450 |
852 | E>A | No |
ClinGen TOPMed |
|
|
CA373949480 rs1421403079 |
852 | E>D | No |
ClinGen gnomAD |
|
|
rs1157322504 CA373949485 |
852 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA195544447 rs191736673 |
854 | E>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1181775354 CA373949460 |
855 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1181775354 CA373949458 |
855 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1369528075 CA373949428 |
859 | E>A | No |
ClinGen TOPMed |
|
|
CA373949430 rs1331459283 |
859 | E>Q | No |
ClinGen TOPMed |
|
|
rs371362648 CA5108789 |
860 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371362648 CA373949419 |
860 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301815167 CA373949415 |
861 | R>T | No |
ClinGen TOPMed |
|
|
CA373949409 rs1204574963 |
862 | L>F | No |
ClinGen gnomAD |
|
|
rs1370240552 CA373949408 |
862 | L>P | No |
ClinGen TOPMed |
|
|
CA373949395 rs1267267779 |
864 | I>M | No |
ClinGen gnomAD |
|
|
CA195544429 rs983028825 |
864 | I>T | No |
ClinGen TOPMed |
|
|
rs781492162 CA195544436 |
864 | I>V | No |
ClinGen gnomAD |
|
|
CA5108788 rs370511325 |
865 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200692884 CA373949376 |
867 | R>K | No |
ClinGen TOPMed |
|
|
CA373949372 rs1258795873 |
868 | E>K | No |
ClinGen TOPMed |
|
|
rs1468055509 CA373949348 |
871 | D>N | No |
ClinGen TOPMed |
|
|
CA373949331 rs1211798221 |
873 | M>T | No |
ClinGen TOPMed |
|
|
CA5108787 rs200304124 |
873 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5108786 rs752735259 |
874 | A>D | No |
ClinGen ExAC |
|
|
CA195544402 rs376190058 |
875 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA373949320 rs376190058 |
875 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1478273989 CA373949297 |
878 | E>Q | No |
ClinGen TOPMed |
|
|
CA373949276 rs1587938203 |
880 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 882 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953004337 CA195544393 |
883 | Y>H | No |
ClinGen Ensembl |
|
|
CA5108783 rs773250617 |
884 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA373949234 rs1387370224 |
887 | G>E | No |
ClinGen gnomAD |
|
|
CA373949232 rs1387370224 |
887 | G>V | No |
ClinGen gnomAD |
|
|
rs770162712 CA5108782 |
888 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 890 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776819297 CA5108780 |
890 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5108781 rs761943014 |
890 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373949207 rs1387179481 |
891 | A>G | No |
ClinGen gnomAD |
|
|
CA195544343 rs879758874 |
891 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373949205 rs1464499747 |
892 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373949199 rs1207097713 |
893 | S>P | No |
ClinGen gnomAD |
|
|
rs1261054340 CA373949185 |
895 | E>K | No |
ClinGen gnomAD |
|
|
CA373949181 rs1352116791 |
895 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 898 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 898 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108777 rs772267345 |
900 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1463432 CA5108776 rs772267345 |
900 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756875035 CA5108773 |
901 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373949132 rs747555350 |
902 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA195544268 rs747555350 |
902 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753541405 CA5108772 |
905 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 906 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139228339 CA5108770 |
908 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA195544231 rs758466847 |
909 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 910 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752505984 CA5108769 |
914 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs754679699 CA5108767 |
914 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108765 rs552232426 |
920 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762102469 CA5108764 |
922 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 924 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017988349 CA5108762 |
926 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764204995 CA5108760 |
927 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1262181711 CA373948959 |
928 | L>F | No |
ClinGen gnomAD |
|
|
CA5108759 rs760822939 |
929 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs775812052 CA373948915 |
934 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775812052 CA5108758 |
934 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223102393 CA373948899 |
936 | E>G | No |
ClinGen gnomAD |
|
|
CA195544170 rs75851694 |
937 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA195544167 COSM3774389 rs77621374 |
937 | K>N | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5108756 rs746406782 |
938 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 939 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195544136 rs1030833132 |
940 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373948874 rs1326586216 |
940 | P>S | No |
ClinGen gnomAD |
|
|
rs771345012 CA5108753 |
941 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195544129 rs373223762 |
942 | D>Y | No |
ClinGen ESP TOPMed |
|
|
rs1347757561 CA373948854 |
943 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 946 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751076382 | 948 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751076382 | 948 | Y>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108750 rs748932794 |
951 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373948784 rs1394450253 |
952 | K>T | No |
ClinGen gnomAD |
|
|
CA5108748 rs140976292 |
954 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373948719 rs1169669115 |
959 | K>Q | No |
ClinGen gnomAD |
|
|
rs1401552190 CA373948640 |
960 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1325181131 CA373948630 |
961 | P>R | No |
ClinGen TOPMed |
|
|
rs1174600730 CA373948625 |
962 | T>A | No |
ClinGen gnomAD |
|
|
CA373948619 rs574993579 |
962 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5108728 rs574993579 |
962 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1216437890 CA373948612 |
963 | V>L | No |
ClinGen TOPMed |
|
|
rs780729851 CA5108726 |
964 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5108725 rs61742249 |
966 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373948529 rs1183876167 |
967 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs758220164 CA5108722 |
969 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750274866 CA5108721 |
970 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108720 rs778618241 |
971 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs568993501 CA5108719 |
971 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1314997 CA373948432 rs1228233994 |
972 | G>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 974 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108718 rs752923002 |
976 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1240345863 CA373948371 |
976 | K>R | No |
ClinGen gnomAD |
|
|
CA373948360 rs1587935655 |
977 | D>A | No |
ClinGen Ensembl |
|
|
rs1587935674 CA373948365 |
977 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 977 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373948343 rs1339977579 |
978 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 979 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108717 rs767632661 |
979 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 981 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373948251 rs1320129885 |
985 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759537086 CA5108716 |
985 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373948207 rs1587935563 |
988 | E>D | No |
ClinGen Ensembl |
|
|
rs752003347 CA5108715 |
989 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399944850 CA373948199 |
989 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1399944850 CA373948203 |
989 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 990 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 992 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766889476 CA5108714 |
994 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1032286989 CA195543788 |
996 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1463430 CA195543789 rs1032286989 |
996 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5108713 rs763263391 |
997 | F>L | No |
ClinGen ExAC |
|
|
rs1181143633 CA373948083 |
999 | N>T | No |
ClinGen gnomAD |
|
|
CA373948068 rs1426007213 |
1000 | I>T | No |
ClinGen TOPMed |
|
|
rs1478225661 CA373948032 |
1003 | Q>E | No |
ClinGen TOPMed |
|
|
CA5108712 rs773534348 |
1005 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368677840 CA373947970 |
1007 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1409146270 CA373947746 |
1011 | D>Y | No |
ClinGen TOPMed |
|
|
rs1216866826 CA373947723 |
1012 | F>S | No |
ClinGen gnomAD |
|
|
CA5108692 rs750947417 |
1014 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1272322254 CA373947651 |
1017 | I>M | No |
ClinGen gnomAD |
|
|
rs1360297455 CA373947654 |
1017 | I>T | No |
ClinGen gnomAD |
|
|
rs577539994 CA5108691 |
1017 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762099737 CA5108690 |
1019 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5108689 rs776300053 |
1020 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108688 rs768224224 |
1024 | H>R | No |
ClinGen ExAC |
|
|
rs775121151 CA5108686 |
1025 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760444301 CA5108687 |
1025 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373947534 rs1344609301 |
1026 | R>W | No |
ClinGen gnomAD |
|
|
CA5108685 rs771769574 |
1033 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770698141 CA5108682 |
1036 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5108683 rs190240395 |
1036 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373947454 rs1343068976 |
1037 | F>I | No |
ClinGen TOPMed |
|
|
CA373947446 rs1186723247 |
1038 | P>T | No |
ClinGen gnomAD |
|
|
rs1205797370 CA373947423 |
1039 | G>A | No |
ClinGen gnomAD |
|
|
rs372132597 CA5108672 |
1040 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1398045027 CA373947379 |
1046 | G>R | No |
ClinGen TOPMed |
|
|
CA5108671 rs140358646 |
1049 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178951988 CA373947344 |
1051 | G>E | No |
ClinGen gnomAD |
|
|
rs764605874 CA5108669 |
1056 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5108668 rs374441993 |
1059 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372797741 CA5108667 |
1061 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373947169 rs1481680445 |
1064 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1065 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767072002 CA5108666 |
1065 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs192361493 CA5108655 |
1077 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5108654 rs757683426 |
1079 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1204513985 CA373946639 |
1084 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1086 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1094 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428082460 CA373946142 |
1096 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201124820 CA195537066 |
1096 | I>V | No |
ClinGen 1000Genomes |
|
|
rs369993282 CA195537060 |
1098 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA5108637 rs771112934 |
1100 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749692944 CA5108636 |
1100 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1111 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373946036 rs1356680304 |
1112 | L>F | No |
ClinGen gnomAD |
|
|
CA5108634 rs756495515 |
1112 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195537055 rs756495515 |
1112 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1117 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753140997 CA5108633 |
1120 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA195537040 rs267602298 |
1122 | L>* | No |
ClinGen Ensembl |
|
|
CA373945867 rs1175355934 |
1135 | S>C | No |
ClinGen gnomAD |
|
|
rs377377386 CA195536718 |
1136 | A>S | No |
ClinGen ESP |
|
|
CA5108610 rs781677692 |
1139 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195536709 rs766442377 |
1140 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1247754608 CA373945827 |
1142 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1148 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755436118 CA5108609 |
1155 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA373945726 rs1326079400 |
1156 | K>Q | No |
ClinGen gnomAD |
|
|
rs1354766288 CA373945702 |
1157 | M>I | No |
ClinGen gnomAD |
|
|
CA5108589 rs747422258 |
1157 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780322849 CA5108588 |
1160 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA373945649 rs1229683328 |
1165 | R>K | No |
ClinGen TOPMed |
|
|
CA373945612 rs1160363389 |
1170 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1382775151 CA373945616 |
1170 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1177 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108583 rs753720708 |
1188 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1288840786 CA373945486 |
1189 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1193 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108563 rs777185017 |
1196 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA373945398 rs1279797946 |
1200 | K>E | No |
ClinGen gnomAD |
|
|
rs1454600379 CA373945367 |
1204 | I>V | No |
ClinGen TOPMed |
|
|
rs756052229 CA5108562 |
1207 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA195536438 rs965069825 |
1207 | D>H | No |
ClinGen TOPMed |
|
|
rs752632467 CA5108561 |
1208 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1301200076 CA373945326 |
1210 | N>D | No |
ClinGen gnomAD |
|
|
rs767336256 CA5108560 |
1211 | I>T | No |
ClinGen ExAC |
|
|
rs74799011 CA195536434 |
1215 | D>Y | No |
ClinGen Ensembl |
|
|
CA373945274 rs1388022973 |
1217 | I>V | No |
ClinGen TOPMed |
|
|
CA5108559 rs555488738 |
1218 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749080608 CA5108547 |
1222 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1020723279 CA195536127 |
1223 | Y>C | No |
ClinGen TOPMed |
|
|
CA373945193 rs1587884316 |
1227 | C>R | No |
ClinGen Ensembl |
|
|
rs1175619896 CA373945182 |
1228 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1230 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1232 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441603993 CA373945158 |
1232 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1233 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239065453 CA373945149 |
1233 | S>P | No |
ClinGen gnomAD |
|
|
CA5108545 rs562452720 |
1234 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5108541 COSM176657 rs751431949 |
1243 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5108540 rs41283659 |
1243 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA373945059 COSM1173523 rs1237388155 |
1246 | T>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs199711858 CA5108539 |
1248 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5108538 rs754076671 |
1252 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1252 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195536090 rs960875330 |
1258 | I>V | No |
ClinGen TOPMed |
|
|
rs1304893643 CA373944947 |
1262 | S>R | No |
ClinGen gnomAD |
|
|
CA5108535 rs143293008 |
1270 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5108534 rs768046984 |
1276 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs768046984 CA373944847 |
1276 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373956191 rs1276633499 |
1285 | N>S | No |
ClinGen gnomAD |
|
|
rs866547610 CA195544637 |
1294 | R>G | No |
ClinGen Ensembl |
|
|
rs1398456206 CA373955864 |
1297 | T>A | No |
ClinGen gnomAD |
|
|
CA373955856 rs1333596798 |
1298 | N>D | No |
ClinGen gnomAD |
|
|
CA5108493 rs765682917 |
1301 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373955739 rs1447446170 |
1303 | A>S | No |
ClinGen TOPMed |
|
|
CA5108492 rs556996114 |
1305 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5108491 rs776429047 |
1309 | R>G | No |
ClinGen ExAC |
|
| TCGA novel | 1315 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108490 rs763640710 |
1317 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760286653 CA5108489 |
1319 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373955320 rs1199038765 |
1326 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1326 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776791684 CA5108459 |
1330 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs768834150 CA5108458 |
1331 | D>Y | No |
ClinGen ExAC |
|
|
rs779983516 CA373954918 |
1340 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779983516 CA5108456 |
1340 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1296217626 CA373954897 |
1343 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1381727257 CA373954892 |
1344 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1344 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779498023 CA5108453 |
1353 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754226413 CA5108451 |
1354 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778335133 CA5108450 |
1356 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA373954804 rs1333921514 |
1357 | M>V | No |
ClinGen TOPMed |
|
|
CA373954761 rs1193594513 |
1362 | M>I | No |
ClinGen gnomAD |
|
|
CA373954766 rs752465514 |
1362 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108448 rs752465514 |
1362 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373954756 rs1468242400 |
1363 | R>K | No |
ClinGen gnomAD |
|
|
CA5108447 rs766868268 |
1365 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756546971 CA5108432 |
1366 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5108430 rs529420813 |
1368 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752229778 CA5108431 |
1368 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570757211 CA5108428 |
1369 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754403647 CA5108429 |
1369 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277431098 CA373954706 |
1370 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200163022 CA5108427 |
1370 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373954680 rs1219633752 |
1372 | Q>P | No |
ClinGen TOPMed |
|
|
CA195542823 rs1020800934 |
1373 | E>K | No |
ClinGen TOPMed |
|
|
CA5108426 rs150932248 |
1374 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150932248 CA373954648 |
1374 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5108425 rs750427384 |
1375 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA195542798 rs750056727 |
1376 | L>P | No |
ClinGen Ensembl |
|
|
rs1366311845 CA373954613 |
1377 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1437984771 CA373954603 |
1378 | Q>* | No |
ClinGen gnomAD |
|
|
rs761690761 CA5108423 |
1378 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA5108422 rs775536141 |
1381 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA195542781 rs775536141 |
1381 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs759728713 CA5108420 |
1382 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1374340732 CA373954526 |
1383 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774563044 CA5108419 |
1385 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771205476 CA5108418 |
1386 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195542752 rs757682777 |
1387 | R>T | No |
ClinGen Ensembl |
|
|
CA373954456 rs1193046883 |
1388 | S>R | No |
ClinGen gnomAD |
|
|
rs1450686247 CA373954421 |
1391 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752176398 CA195542747 |
1392 | K>R | No |
ClinGen gnomAD |
|
|
rs956667164 CA195542744 |
1393 | E>G | No |
ClinGen Ensembl |
|
|
CA373954360 rs1587861063 |
1394 | I>T | No |
ClinGen Ensembl |
|
|
CA373954352 rs773864313 |
1395 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5108416 rs773864313 |
1395 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs866247183 CA195542738 |
1396 | N>D | No |
ClinGen Ensembl |
|
|
rs1000828722 CA195542722 |
1398 | Y>N | No |
ClinGen Ensembl |
|
|
COSM1110760 rs1456291217 CA373954236 |
1399 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1287373208 CA373954190 |
1401 | R>G | No |
ClinGen TOPMed |
|
|
rs76212915 CA195542711 |
1401 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA5108413 rs76212915 |
1401 | R>T | No |
ClinGen ESP ExAC |
|
|
CA373954152 rs1587860885 |
1403 | V>G | No |
ClinGen Ensembl |
|
|
rs1205145141 CA373954160 |
1403 | V>M | No |
ClinGen gnomAD |
|
|
rs1587860840 CA373954113 |
1405 | T>K | No |
ClinGen Ensembl |
|
|
CA5108410 rs754637918 |
1409 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs757908948 CA5108407 |
1411 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444058284 CA373953977 |
1412 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs564674138 CA5108405 |
1414 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1415 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362500177 CA373953923 |
1415 | P>S | No |
ClinGen gnomAD |
|
|
rs757180847 CA5108404 |
1417 | K>N | No |
ClinGen ExAC TOPMed |
|
|
CA373953800 rs1447742970 |
1419 | K>N | No |
ClinGen gnomAD |
|
|
CA373953797 rs1161753319 |
1420 | P>T | No |
ClinGen gnomAD |
|
|
rs901993371 CA373953766 |
1421 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA195542662 rs901993371 |
1421 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA195542660 rs201306794 |
1422 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108402 rs201306794 |
1422 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148400661 CA5108403 |
1422 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1005518529 CA195542657 |
1425 | A>V | No |
ClinGen Ensembl |
|
|
rs774714607 CA5108400 |
1427 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373953611 rs1177631882 |
1428 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1430 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763152242 CA5108398 |
1432 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373953524 rs1564028526 |
1432 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1433 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5108395 rs770307301 |
1434 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1284602591 CA373953447 |
1435 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373953421 rs1237320823 |
1436 | P>R | No |
ClinGen gnomAD |
|
|
rs541050358 CA5108394 |
1437 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1439 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1440 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373953349 rs1307234433 |
1440 | W>R | No |
ClinGen gnomAD |
|
|
rs746971309 CA195542645 |
1442 | R>K | No |
ClinGen Ensembl |
|
|
rs1411522134 CA373953218 |
1445 | D>E | No |
ClinGen TOPMed |
|
|
CA5108393 rs61749485 |
1446 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459682917 CA373953155 |
1448 | L>* | No |
ClinGen gnomAD |
|
|
rs1377375061 CA373953146 CA373953149 |
1448 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs947853078 CA195542626 |
1449 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs768970038 CA5108392 |
1450 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5108391 rs746598524 |
1452 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108390 rs779703706 |
1452 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1379202532 CA373952968 |
1455 | I>T | No |
ClinGen TOPMed |
|
|
CA5108388 rs745350559 |
1456 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1458 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373952835 rs1183541238 |
1459 | E>D | No |
ClinGen gnomAD |
|
|
CA5108386 rs757202943 |
1459 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs917719398 CA195542594 |
1465 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373952630 rs1213885128 |
1468 | Q>E | No |
ClinGen gnomAD |
|
|
rs1286001048 CA373952531 |
1472 | S>F | No |
ClinGen TOPMed |
|
|
CA5108384 rs777553227 |
1473 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755936719 CA5108366 |
1475 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373949980 rs755936719 |
1475 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195536618 rs1029953046 |
1478 | S>N | No |
ClinGen Ensembl |
|
|
rs752513244 CA5108364 |
1479 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758681837 CA5108362 |
1480 | Y>C | No |
ClinGen ExAC |
|
|
rs758681837 CA5108363 |
1480 | Y>S | No |
ClinGen ExAC |
|
| TCGA novel | 1481 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143296210 CA5108360 |
1481 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5108359 rs765295889 |
1486 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1463398626 CA373949823 |
1487 | S>T | No |
ClinGen gnomAD |
|
|
rs368748794 CA195536593 |
1488 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761811843 CA5108358 |
1488 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5108357 rs368748794 |
1488 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244091055 CA373949777 |
1490 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1491 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373949735 rs1292829979 |
1493 | Q>H | No |
ClinGen TOPMed |
|
|
CA195536583 rs1015072056 |
1493 | Q>K | No |
ClinGen Ensembl |
|
|
rs761217897 CA5108355 |
1495 | S>* | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5VYS8
8 regional properties for Q5VYS8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCHC-type | 964 - 980 | IPR001878-1 |
| domain | Zinc finger, CCHC-type | 1346 - 1362 | IPR001878-2 |
| domain | Zinc finger, CCHC-type | 1452 - 1468 | IPR001878-3 |
| domain | PAP/25A-associated | 551 - 600 | IPR002058-1 |
| domain | PAP/25A-associated | 1233 - 1286 | IPR002058-2 |
| domain | Matrin/U1-C-like, C2H2-type zinc finger | 241 - 275 | IPR003604 |
| domain | TUTase nucleotidyltransferase domain | 195 - 411 | IPR045100-1 |
| domain | TUTase nucleotidyltransferase domain | 971 - 1117 | IPR045100-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.52 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| miRNA binding | Binding to a microRNA, a 21-23 nucleotide RNA that is processed from a stem-loop RNA precursor (pre-miRNA) that is encoded within plant and animal genomes. |
| nucleotidyltransferase activity | Catalysis of the transfer of a nucleotidyl group to a reactant. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA uridylyltransferase activity | Catalysis of the reaction: UTP + RNA(n) = diphosphate + RNA(n+1). |
| uridylyltransferase activity | Catalysis of the transfer of an uridylyl group to an acceptor. |
| zinc ion binding | Binding to a zinc ion (Zn). |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| miRNA metabolic process | The chemical reactions and pathways involving miRNA, microRNA, a class of single-stranded RNA molecules of about 21-23 nucleotides in length, which regulates gene expression. |
| negative regulation of transposition, RNA-mediated | Any process that decreases the frequency, rate or extent of RNA-mediated transposition. RNA-mediated transposition is a type of transpositional recombination which occurs via an RNA intermediate. |
| nuclear-transcribed mRNA poly(A) tail shortening | Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length. |
| oocyte maturation | A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization. |
| polyuridylation-dependent mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of a messenger RNA (mRNA) molecule, initiated by the enzymatic addition of a sequence of uridylyl residues (polyuridylation) at the 3' end of the target mRNA. |
| pre-miRNA processing | A process involved in the conversion of a pre-microRNA transcript into a mature microRNA molecule. |
| RNA 3' uridylation | The enzymatic addition of a sequence of uridylyl residues at the 3' end of an RNA molecule. |
| RNA 3'-end processing | Any process involved in forming the mature 3' end of an RNA molecule. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5BLK4 | Tut7 | Terminal uridylyltransferase 7 | Mus musculus (Mouse) | PR |
| A8WHT1 | C53A5.17 | tRNA (guanine(37)-N1)-methyltransferase | Caenorhabditis elegans | PR |
| Q5XET5 | HESO1 | Protein HESO1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0VFA3 | tent2 | Poly(A) RNA polymerase GLD2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q503I9 | tent2 | Poly(A) RNA polymerase GLD2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDTAKPYFV | KRTKDRGTMD | DDDFRRGHPQ | QDYLIIDDHA | KGHGSKMEKG | LQKKKITPGN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YGNTPRKGPC | AVSSNPYAFK | NPIYSQPAWM | NDSHKDQSKR | WLSDEHTGNS | DNWREFKPGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIPVINRQRK | DSFQENEDGY | RWQDTRGCRT | VRRLFHKDLT | SLETTSEMEA | GSPENKKQRS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RPRKPRKTRN | EENEQDGDLE | GPVIDESVLS | TKELLGLQQA | EERLKRDCID | RLKRRPRNYP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TAKYTCRLCD | VLIESIAFAH | KHIKEKRHKK | NIKEKQEEEL | LTTLPPPTPS | QINAVGIAID |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KVVQEFGLHN | ENLEQRLEIK | RIMENVFQHK | LPDCSLRLYG | SSCSRLGFKN | SDVNIDIQFP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AIMSQPDVLL | LVQECLKNSD | SFIDVDADFH | ARVPVVVCRE | KQSGLLCKVS | AGNENACLTT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KHLTALGKLE | PKLVPLVIAF | RYWAKLCSID | RPEEGGLPPY | VFALMAIFFL | QQRKEPLLPV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YLGSWIEGFS | LSKLGNFNLQ | DIEKDVVIWE | HTDSAAGDTG | ITKEEAPRET | PIKRGQVSLI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LDVKHQPSVP | VGQLWVELLR | FYALEFNLAD | LVISIRVKEL | VSRELKDWPK | KRIAIEDPYS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VKRNVARTLN | SQPVFEYILH | CLRTTYKYFA | LPHKITKSSL | LKPLNAITCI | SEHSKEVINH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HPDVQTKDDK | LKNSVLAQGP | GATSSAANTC | KVQPLTLKET | AESFGSPPKE | EMGNEHISVH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PENSDCIQAD | VNSDDYKGDK | VYHPETGRKN | EKEKVGRKGK | HLLTVDQKRG | EHVVCGSTRN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NESESTLDLE | GFQNPTAKEC | EGLATLDNKA | DLDGESTEGT | EELEDSLNHF | THSVQGQTSE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MIPSDEEEED | DEEEEEEEEP | RLTINQREDE | DGMANEDELD | NTYTGSGDED | ALSEEDDELG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EAAKYEDVKE | CGKHVERALL | VELNKISLKE | ENVCEEKNSP | VDQSDFFYEF | SKLIFTKGKS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PTVVCSLCKR | EGHLKKDCPE | DFKRIQLEPL | PPLTPKFLNI | LDQVCIQCYK | DFSPTIIEDQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AREHIRQNLE | SFIRQDFPGT | KLSLFGSSKN | GFGFKQSDLD | VCMTINGLET | AEGLDCVRTI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EELARVLRKH | SGLRNILPIT | TAKVPIVKFF | HLRSGLEVDI | SLYNTLALHN | TRLLSAYSAI |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| DPRVKYLCYT | MKVFTKMCDI | GDASRGSLSS | YAYTLMVLYF | LQQRNPPVIP | VLQEIYKGEK |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KPEIFVDGWN | IYFFDQIDEL | PTYWSECGKN | TESVGQLWLG | LLRFYTEEFD | FKEHVISIRR |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| KSLLTTFKKQ | WTSKYIVIED | PFDLNHNLGA | GLSRKMTNFI | MKAFINGRRV | FGIPVKGFPK |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| DYPSKMEYFF | DPDVLTEGEL | APNDRCCRIC | GKIGHFMKDC | PMRRKVRRRR | DQEDALNQRY |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| PENKEKRSKE | DKEIHNKYTE | REVSTKEDKP | IQCTPQKAKP | MRAAADLGRE | KILRPPVEKW |
| 1450 | 1460 | 1470 | 1480 | 1490 | |
| KRQDDKDLRE | KRCFICGREG | HIKKECPQFK | GSSGSLSSKY | MTQGKASAKR | TQQES |