O75691
Gene name |
UTP20 (DRIM) |
Protein name |
Small subunit processome component 20 homolog |
Names |
Down-regulated in metastasis protein, Novel nucleolar protein 73, NNP73, Protein Key-1A6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27340 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
2125 variants for O75691
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386251321 rs1486690302 |
3 | T>I | No |
ClinGen gnomAD |
|
|
rs1047957812 CA242155722 |
3 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386251330 rs1186890675 |
4 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA242155724 rs903392204 |
5 | P>S | No |
ClinGen Ensembl |
|
|
rs1431115269 CA386251341 |
6 | V>A | No |
ClinGen gnomAD |
|
|
CA386251337 rs1461879567 |
6 | V>I | No |
ClinGen TOPMed |
|
|
rs1593413354 CA386251366 |
10 | T>A | No |
ClinGen Ensembl |
|
|
CA386251370 rs1429335228 |
10 | T>I | No |
ClinGen gnomAD |
|
|
rs1037758439 CA242155729 |
11 | E>D | No |
ClinGen TOPMed |
|
|
rs1157518164 CA386251391 |
13 | T>I | No |
ClinGen gnomAD |
|
|
rs1327668743 CA386251392 |
14 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1327668743 CA386251394 |
14 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386251400 rs1431885310 |
15 | R>W | No |
ClinGen gnomAD |
|
|
CA6741554 rs777483339 COSM1358125 |
19 | F>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386251460 rs1311999347 |
22 | R>* | No |
ClinGen gnomAD |
|
|
rs151017457 CA6741555 |
22 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770835593 CA6741556 CA6741557 |
24 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201119620 CA242155942 |
25 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs772093974 CA6741559 |
29 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1470261642 CA386251511 |
30 | I>T | No |
ClinGen gnomAD |
|
|
CA386251531 rs1254828460 |
33 | R>Q | No |
ClinGen TOPMed |
|
|
rs1181779838 CA386251530 COSM199541 |
33 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1412281080 CA386251534 |
34 | I>L | No |
ClinGen gnomAD |
|
|
rs1446753350 CA386251539 |
34 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386251551 rs1344179662 |
36 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs138442594 CA242155951 |
38 | A>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1428039371 CA386251576 |
40 | Y>H | No |
ClinGen gnomAD |
|
|
CA386251595 rs1355179634 |
42 | E>G | No |
ClinGen gnomAD |
|
| rs1275866065 | 43 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766639911 CA6741582 |
45 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386251794 rs766639911 |
45 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242157086 rs201613032 |
48 | F>I | No |
ClinGen 1000Genomes |
|
|
CA6741584 rs199984180 |
49 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741583 rs199984180 |
49 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386251866 rs1248010989 |
50 | E>D | No |
ClinGen gnomAD |
|
|
CA386251875 rs1195783643 |
51 | G>D | No |
ClinGen gnomAD |
|
|
CA6741585 rs767850144 |
51 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574807809 CA6741587 |
53 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171081345 CA386251957 |
57 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386251953 rs1171081345 |
57 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753446896 CA6741590 |
61 | T>A | No |
ClinGen ExAC |
|
|
rs1419326275 CA6741591 |
61 | T>I | No |
ClinGen TOPMed |
|
|
rs756918885 CA6741593 |
63 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6741594 rs778741912 |
64 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386252045 rs1444527886 |
65 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA242157164 rs887997462 |
66 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 68 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959303458 CA242157167 |
69 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 70 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6741624 rs772232391 |
72 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6741625 rs775873004 |
73 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1232902128 CA386252191 |
74 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171109336 CA386252249 |
77 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
TCGA novel CA6741627 rs542537526 |
78 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ExAC gnomAD |
|
rs140064475 CA6741628 |
79 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762468305 CA386252296 CA6741629 |
82 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762468305 CA386252295 |
82 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386252308 rs749945156 |
83 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749945156 CA6741631 |
83 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741632 rs762707848 |
84 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741634 rs751332898 |
87 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474140212 CA386252377 |
88 | I>M | No |
ClinGen TOPMed |
|
|
rs375167600 CA6741636 |
88 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149447402 CA6741635 |
88 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1360665519 CA386252416 |
93 | K>E | No |
ClinGen gnomAD |
|
|
rs189494608 CA6741637 |
93 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 94 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756081314 CA386252447 |
95 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779027623 CA386252450 |
96 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779027623 CA6741640 |
96 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772296088 CA6741641 |
97 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251101276 CA386252461 |
97 | Q>K | No |
ClinGen gnomAD |
|
|
rs1244743209 CA386252479 |
98 | V>A | No |
ClinGen gnomAD |
|
|
rs764439575 CA242157203 |
98 | V>I | No |
ClinGen gnomAD |
|
|
CA386252500 rs1445080915 |
100 | N>K | No |
ClinGen gnomAD |
|
|
rs1167511207 CA386252501 |
101 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6741643 rs747342486 |
104 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143875613 CA6741644 |
107 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368079018 CA6741646 |
109 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs78440807 CA6741645 |
109 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386252891 rs1287507270 |
110 | L>F | No |
ClinGen gnomAD |
|
|
CA6741666 rs755292222 |
112 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386252899 rs1364582190 |
112 | V>L | No |
ClinGen gnomAD |
|
|
CA386252933 rs1300922546 |
116 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 117 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6741669 rs2290723 |
120 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6741667 rs781676133 |
120 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741668 VAR_055135 rs2290723 |
120 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781676133 CA386252975 |
120 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324216456 CA386253032 |
124 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773600658 CA6741670 |
124 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386253038 rs1258709083 |
125 | H>R | No |
ClinGen gnomAD |
|
|
rs1215046089 CA386253036 |
125 | H>Y | No |
ClinGen gnomAD |
|
|
rs369418489 CA242157314 |
126 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749860562 CA6741671 |
127 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 129 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242157319 rs967727528 |
129 | F>L | No |
ClinGen Ensembl |
|
| rs761528888 | 131 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6741675 rs773948737 |
131 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs761528888 | 131 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373688404 CA6741676 |
132 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193683579 CA386253139 |
134 | T>A | No |
ClinGen gnomAD |
|
|
rs147399996 CA6741677 COSM286419 |
135 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6741679 rs760465766 |
136 | I>T | No |
ClinGen ExAC |
|
|
rs1371439798 CA386253208 |
140 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6741681 rs753707234 |
141 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386253272 rs1406794433 |
144 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs907528322 CA242157344 |
145 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6741683 rs145256826 |
146 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741684 rs751739229 |
150 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6741686 rs781599831 |
151 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6741687 rs376796297 |
151 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376796297 CA386253355 COSM1358128 |
151 | S>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6741688 rs756451766 |
152 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749723360 CA6741690 |
153 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs201815900 CA6741689 |
153 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6741691 rs771513621 |
154 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1342829764 CA386253381 |
154 | Y>H | No |
ClinGen TOPMed |
|
|
rs773800381 CA6741692 |
155 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6741693 rs745413991 |
156 | Y>C | No |
ClinGen ExAC |
|
|
CA386253436 rs1299725788 |
158 | Y>H | No |
ClinGen TOPMed |
|
|
rs1231883081 CA386253490 |
160 | W>C | No |
ClinGen TOPMed |
|
|
rs1163367785 CA386253550 |
163 | M>K | No |
ClinGen gnomAD |
|
|
RCV000962474 CA6741697 rs142220773 |
167 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147632286 CA6741695 |
167 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147632286 CA6741696 |
167 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741698 rs776529179 |
168 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs200657881 CA6741699 |
169 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6741700 rs765245286 |
170 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752936556 CA6741715 |
173 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs998194291 CA242157936 |
173 | M>T | No |
ClinGen Ensembl |
|
|
CA386254014 rs1408238650 |
175 | S>G | No |
ClinGen gnomAD |
|
|
CA242157940 rs566754342 |
176 | T>I | No |
ClinGen gnomAD |
|
|
CA242157943 rs865912868 |
177 | L>F | No |
ClinGen gnomAD |
|
|
rs1336075160 CA386254083 |
179 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6741717 rs761702669 |
180 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6741718 rs146982196 |
181 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1315268123 CA386254147 |
182 | K>E | No |
ClinGen gnomAD |
|
|
CA6741719 rs567907949 |
183 | L>P | No |
ClinGen 1000Genomes ExAC |
|
|
CA6741721 rs535107469 |
184 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386254184 rs1274459581 |
184 | H>Y | No |
ClinGen gnomAD |
|
|
CA6741722 rs555371440 |
185 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386254243 rs1383919700 |
187 | N>S | No |
ClinGen TOPMed |
|
|
rs764407781 CA6741724 |
189 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741726 rs368669699 |
193 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444997495 CA386254358 |
195 | F>L | No |
ClinGen gnomAD |
|
|
CA6741727 rs187729337 |
196 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758944883 CA6741729 |
197 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA386254422 rs1175539996 |
199 | K>Q | No |
ClinGen gnomAD |
|
|
rs376412636 CA6741747 |
201 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386254588 rs1205625954 |
202 | D>G | No |
ClinGen TOPMed |
|
|
CA386254586 rs1243893306 |
202 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348553737 COSM1706098 CA386254604 |
204 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1319804145 CA386254610 |
205 | A>E | No |
ClinGen gnomAD |
|
|
CA386254608 rs750971526 |
205 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741749 rs750971526 |
205 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6741751 rs780629141 |
207 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA242158297 rs974542710 |
208 | N>S | No |
ClinGen Ensembl |
|
|
rs755877160 CA386254642 |
210 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755877160 CA6741753 |
210 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796192637 CA242158302 |
210 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1460435166 CA386254654 |
211 | F>L | No |
ClinGen Ensembl |
|
|
CA6741754 rs777657859 |
212 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA386254683 rs1348911016 |
216 | K>E | No |
ClinGen gnomAD |
|
|
rs1225866719 CA386254695 |
217 | H>L | No |
ClinGen gnomAD |
|
|
rs749123222 CA6741755 |
218 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336885951 CA386254699 |
218 | P>S | No |
ClinGen TOPMed |
|
|
CA386254713 rs1490242538 |
220 | K>E | No |
ClinGen gnomAD |
|
|
rs1382058797 CA386254723 |
221 | V>A | No |
ClinGen TOPMed |
|
|
CA386254726 rs1220589083 |
222 | E>Q | No |
ClinGen gnomAD |
|
|
rs1219252817 CA386254739 |
224 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 224 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6741756 rs770923470 |
226 | Q>R | No |
ClinGen ExAC |
|
|
rs1161436654 CA386254765 |
228 | L>F | No |
ClinGen TOPMed |
|
|
rs1042382250 CA242158314 |
228 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386255104 rs1386105412 |
231 | M>I | No |
ClinGen TOPMed |
|
|
CA6741757 rs774357952 |
232 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6741758 rs528105491 |
233 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866407245 CA242158320 |
237 | N>T | No |
ClinGen Ensembl |
|
|
rs201614926 CA6741759 |
238 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 238 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776616066 CA6741760 |
241 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762000750 CA6741761 |
242 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6741762 rs765467951 |
243 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386255275 rs1423572444 |
244 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1423572444 CA386255279 |
244 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763314193 CA6741764 |
245 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753739452 CA242158421 |
246 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753739452 CA386255355 |
246 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6741778 rs771952656 |
252 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741777 rs771952656 |
252 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741779 rs372093743 |
252 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769938158 CA6741781 |
253 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242158436 rs965537886 |
258 | T>A | No |
ClinGen TOPMed |
|
|
CA6741782 rs551412332 |
259 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386255525 rs1249653730 |
259 | E>D | No |
ClinGen gnomAD |
|
|
CA6741783 rs771327304 |
260 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774622092 CA6741784 |
260 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258645092 CA386255617 |
263 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA242158444 rs890775309 |
265 | P>Q | No |
ClinGen gnomAD |
|
|
CA6741786 rs767936184 |
266 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192111573 CA386255671 |
267 | M>I | No |
ClinGen gnomAD |
|
|
rs1423999324 CA386255667 |
267 | M>T | No |
ClinGen gnomAD |
|
|
rs994342175 CA242158450 |
268 | L>V | No |
ClinGen TOPMed |
|
|
rs760272496 CA6741788 |
270 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752186235 CA6741787 |
270 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375265829 CA6741789 |
272 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741792 rs367568587 |
275 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386255801 rs1441223197 |
276 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6741795 rs758317481 |
280 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293777974 CA386255868 |
281 | V>L | No |
ClinGen gnomAD |
|
|
rs139257599 CA6741796 |
282 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777900025 CA6741799 |
283 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA386255901 rs749485098 |
284 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6741800 rs749485098 |
284 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238653778 CA386255939 |
287 | E>K | No |
ClinGen TOPMed |
|
|
rs774733708 CA6741802 |
288 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771077454 CA6741801 |
288 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1204130358 CA386255971 |
289 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1204130358 CA386255969 |
289 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386255989 rs1259244073 |
290 | G>D | No |
ClinGen gnomAD |
|
|
CA386255992 rs1259244073 |
290 | G>V | No |
ClinGen gnomAD |
|
|
rs759820954 CA6741803 |
291 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286560927 CA386256009 |
292 | F>V | No |
ClinGen TOPMed |
|
|
CA6741804 rs772569765 |
294 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs993004530 CA242158487 |
295 | C>R | No |
ClinGen TOPMed |
|
|
CA386256095 rs776125449 CA6741805 |
297 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6741825 rs769309900 |
298 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1271571058 CA606692801 |
299 | S>* | No |
ClinGen gnomAD |
|
|
CA6741826 rs146584077 |
299 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386256179 rs146584077 |
299 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386256204 rs1411080564 |
301 | L>W | No |
ClinGen TOPMed |
|
|
CA6741829 rs772729936 COSM3792091 |
302 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA242158743 rs1010866471 |
302 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369745646 CA242158745 |
304 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1436601083 CA386256250 |
305 | T>A | No |
ClinGen gnomAD |
|
|
CA386256253 rs765166437 |
305 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA242158748 rs765166437 |
305 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386256287 rs1240400613 |
308 | T>A | No |
ClinGen gnomAD |
|
|
CA242158752 rs975985411 |
310 | T>S | No |
ClinGen TOPMed |
|
|
rs1182038631 CA386256357 |
311 | N>K | No |
ClinGen gnomAD |
|
|
rs765360190 CA242158757 |
314 | E>D | No |
ClinGen Ensembl |
|
|
CA6741832 rs751410004 |
314 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754866885 CA6741833 |
318 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA386256500 rs1223167575 |
319 | I>F | No |
ClinGen gnomAD |
|
|
CA6741834 rs767443404 |
319 | I>M | No |
ClinGen ExAC |
|
|
rs148365055 CA6741836 |
320 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148365055 CA6741835 |
320 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386256601 rs951390222 |
324 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs746045285 CA6741838 |
325 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780516465 CA386256677 |
328 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741840 rs780516465 |
328 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386256684 rs1186236763 |
329 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769219972 CA6741842 |
332 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs982879239 CA242158778 |
332 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777291998 CA6741843 |
333 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141602307 CA242158783 |
334 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA386256789 rs1347771535 |
334 | S>R | No |
ClinGen TOPMed |
|
|
rs769184944 CA386256842 |
338 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA6741845 rs769184944 |
338 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs75620118 CA6741847 |
339 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75620118 CA6741846 RCV000963707 |
339 | P>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs373233138 CA6741848 |
340 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386256875 rs1229722695 |
341 | P>S | No |
ClinGen gnomAD |
|
|
CA6741850 rs759335513 |
342 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201873038 CA6741852 |
343 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6741854 rs765207753 |
344 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6741853 rs138400123 |
344 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741855 rs750538032 |
345 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386257005 rs1433151106 |
348 | L>V | No |
ClinGen Ensembl |
|
|
rs764123747 CA6741874 |
349 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA386257022 rs952491692 |
349 | S>C | No |
ClinGen gnomAD |
|
|
CA242158841 rs952491692 |
349 | S>F | No |
ClinGen gnomAD |
|
|
CA6741875 rs750404350 |
351 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs544207946 CA6741876 |
351 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6741878 rs751829217 |
352 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755294188 CA6741880 |
353 | Q>H | No |
ClinGen ExAC |
|
|
rs1436726138 CA386257060 |
353 | Q>K | No |
ClinGen TOPMed |
|
|
CA386257068 rs1344265931 |
353 | Q>R | No |
ClinGen gnomAD |
|
|
rs753131749 CA6741881 |
354 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756543556 CA6741882 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA242158858 rs142738390 |
357 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA242158861 rs142738390 |
357 | L>R | No |
ClinGen ESP TOPMed |
|
|
rs1340664116 CA386257131 |
358 | S>F | No |
ClinGen gnomAD |
|
|
CA6741884 rs139573850 |
359 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386257138 rs1281942323 |
359 | T>S | No |
ClinGen gnomAD |
|
|
CA386257167 rs1283767968 |
361 | C>F | No |
ClinGen gnomAD |
|
|
CA242158868 rs1007380576 |
362 | W>R | No |
ClinGen TOPMed |
|
|
rs778432035 CA6741886 |
365 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA242158874 rs981984342 |
365 | L>P | No |
ClinGen Ensembl |
|
|
rs1593419019 CA386257249 |
367 | D>A | No |
ClinGen Ensembl |
|
|
rs771777235 CA6741888 |
367 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1263984046 CA386257246 |
367 | D>N | No |
ClinGen gnomAD |
|
|
CA386257259 rs1198517590 |
368 | V>L | No |
ClinGen gnomAD |
|
|
CA6741889 rs775106501 |
370 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA386257277 rs1192033747 |
371 | A>T | No |
ClinGen TOPMed |
|
|
rs1478861399 CA386257297 |
374 | L>Q | No |
ClinGen gnomAD |
|
|
rs760523413 CA6741890 |
375 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000879078 rs79571582 CA6741891 |
377 | N>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386257328 rs1417482180 |
379 | S>A | No |
ClinGen gnomAD |
|
|
CA6741892 rs750820584 |
381 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386257349 rs1337455632 |
382 | E>A | No |
ClinGen gnomAD |
|
|
rs1231649849 CA386257352 |
383 | T>P | No |
ClinGen TOPMed |
|
|
rs751741275 CA6741895 |
385 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 386 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386257370 rs1205088713 |
386 | K>Q | No |
ClinGen gnomAD |
|
|
CA6741896 rs759786580 |
386 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386257382 rs1219517792 |
387 | E>G | No |
ClinGen TOPMed |
|
|
rs1279304110 CA386257389 |
388 | T>S | No |
ClinGen gnomAD |
|
|
rs756483939 CA6741899 |
389 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6741898 rs151242689 |
389 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764430776 CA6741900 |
390 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1210294486 CA386257445 |
394 | E>D | No |
ClinGen gnomAD |
|
|
CA386257457 rs1272203105 |
396 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 400 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201186982 CA6741920 |
400 | R>H | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 400 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238612281 CA386257494 |
401 | L>S | No |
ClinGen gnomAD |
|
|
CA6741922 rs765765635 |
404 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1012291517 CA242159221 |
404 | S>R | No |
ClinGen Ensembl |
|
|
CA386257533 rs1472844098 |
407 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398770595 CA386257549 |
409 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1031769402 CA242159228 |
411 | A>S | No |
ClinGen TOPMed |
|
|
CA242159230 rs868254939 |
411 | A>V | No |
ClinGen gnomAD |
|
|
CA6741925 rs779469626 |
412 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746667615 CA6741926 |
417 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs754588793 CA6741948 |
421 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6741949 rs144211284 |
424 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242159926 rs994431858 |
426 | Y>C | No |
ClinGen Ensembl |
|
|
rs200302469 CA6741950 |
427 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 430 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386258716 rs1178657423 |
432 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs146565929 CA6741951 |
433 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453314070 CA386258746 |
434 | D>V | No |
ClinGen gnomAD |
|
|
rs1396311455 CA386258754 |
435 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1362473601 CA386258775 |
437 | V>I | No |
ClinGen gnomAD |
|
|
rs1298681487 CA386258801 |
440 | D>V | No |
ClinGen gnomAD |
|
|
CA386258810 rs1452538775 |
441 | E>D | No |
ClinGen gnomAD |
|
|
rs747091698 CA6741956 |
457 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741958 rs141301122 |
458 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242159935 rs141301122 |
458 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741959 rs762062106 |
460 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386259004 rs762062106 |
460 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741961 rs773504931 |
461 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773504931 CA386259015 |
461 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766797905 CA6741963 |
463 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6741964 rs751036728 |
467 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | Y>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758986812 CA6741965 |
468 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382425150 CA386259127 |
470 | V>I | No |
ClinGen gnomAD |
|
|
CA6741966 rs145108682 |
473 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741967 rs145108682 |
473 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741968 rs145108682 |
473 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741970 rs183927312 |
474 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386259206 rs1295237257 |
476 | V>L | No |
ClinGen gnomAD |
|
|
CA6741972 rs374596406 |
477 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6741984 rs145833993 |
478 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201256747 CA6741985 |
479 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386259802 rs1565787549 |
480 | I>R | No |
ClinGen Ensembl |
|
|
CA386259814 COSM1288875 rs1565787551 |
482 | Q>* | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6741987 rs775157725 |
482 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs149002619 CA6741986 |
482 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386259829 rs1376259112 |
484 | K>T | No |
ClinGen gnomAD |
|
|
rs200955631 CA6741988 |
485 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386259854 rs1311588317 |
488 | K>E | No |
ClinGen TOPMed |
|
|
CA386259858 rs1317813459 |
488 | K>N | No |
ClinGen gnomAD |
|
|
rs1217408485 CA386259867 |
490 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143832042 CA6741990 |
490 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6741992 rs765120524 |
492 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA242162018 rs1056411266 |
492 | E>V | No |
ClinGen gnomAD |
|
|
CA386259888 rs1484251317 |
493 | Q>* | No |
ClinGen gnomAD |
|
|
CA6741993 rs750322929 |
493 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535772659 CA6741994 |
494 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555637284 CA6741995 |
494 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1466704062 CA386259900 |
495 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6741998 rs777877274 |
498 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1357050671 CA386259926 |
499 | H>D | No |
ClinGen gnomAD |
|
|
CA6741999 rs749569519 |
499 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742003 rs4764643 VAR_022162 |
502 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4764643 CA6742004 |
502 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742002 rs746321739 |
502 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs760286700 CA6742005 |
503 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242162071 rs1000017917 |
505 | K>N | No |
ClinGen Ensembl |
|
|
CA6742007 rs776116771 |
507 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6742006 rs763709062 |
507 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742008 rs761592473 |
508 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742009 rs764927303 |
509 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 511 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242162083 rs530927598 |
519 | W>L | No |
ClinGen Ensembl |
|
|
CA6742010 rs758248732 |
520 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6742013 rs139131985 |
523 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386260120 rs1444885762 |
524 | V>A | No |
ClinGen Ensembl |
|
|
CA6742015 rs144043776 |
524 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs954562180 CA242162121 |
526 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs954562180 CA386260149 |
526 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs983657120 CA242162128 |
527 | H>P | No |
ClinGen TOPMed |
|
|
rs983657120 CA386260160 |
527 | H>R | No |
ClinGen TOPMed |
|
|
rs997502771 CA242162131 |
528 | I>V | No |
ClinGen Ensembl |
|
|
rs919911727 CA242162221 |
531 | L>F | No |
ClinGen TOPMed |
|
|
CA6742033 rs764027603 |
535 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405274243 CA386260305 |
536 | V>L | No |
ClinGen gnomAD |
|
|
CA6742035 rs757384332 |
538 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753959114 CA6742034 |
538 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1434492415 CA386260350 |
539 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6742038 rs373930284 |
540 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742039 rs780632896 |
541 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs137961955 CA6742041 |
542 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1453063359 CA386260396 |
543 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386260447 rs1214065627 |
547 | L>R | No |
ClinGen gnomAD |
|
|
CA6742043 rs747723866 |
548 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6742045 CA242162257 rs769278795 |
549 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742046 rs762629718 |
549 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6742044 rs769278795 |
549 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386260464 rs1363815189 |
550 | T>N | No |
ClinGen gnomAD |
|
|
rs1472182506 CA386260467 |
551 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6742047 rs150558479 |
552 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742048 rs774149143 |
553 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376003744 CA6742049 |
554 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386260493 rs1360515213 |
555 | S>G | No |
ClinGen TOPMed |
|
|
CA6742050 rs767524170 |
556 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 557 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753815915 CA6742051 |
558 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386260707 rs1277497687 |
561 | L>S | No |
ClinGen gnomAD |
|
|
rs774094260 CA6742066 |
561 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771813278 CA6742068 |
562 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1343814165 CA386260738 |
563 | V>A | No |
ClinGen gnomAD |
|
|
CA386260729 rs1251724305 |
563 | V>I | No |
ClinGen gnomAD |
|
|
CA386260760 rs1198430173 |
565 | C>Y | No |
ClinGen gnomAD |
|
|
CA242163413 rs1040408893 |
566 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775468260 CA6742069 |
567 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485715018 CA386260797 |
568 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742071 rs765394903 |
570 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 570 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742072 rs773438739 |
571 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751820486 CA6742077 |
576 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386260935 rs1164472939 |
578 | S>Y | No |
ClinGen TOPMed |
|
|
rs370416680 CA6742078 |
582 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742080 rs138606783 |
588 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138606783 CA6742081 |
588 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742082 rs748832576 |
588 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742083 rs748832576 |
588 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149303591 CA6742084 |
590 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6742085 rs745548972 |
593 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6742108 rs768665973 |
595 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs762533790 CA242165178 |
597 | P>R | No |
ClinGen Ensembl |
|
|
rs1457481677 CA386261621 |
598 | L>P | No |
ClinGen gnomAD |
|
|
rs1254065821 CA386261618 |
598 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 600 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410168260 CA386261642 |
600 | P>S | No |
ClinGen gnomAD |
|
|
CA242165194 rs375432168 |
602 | V>A | No |
ClinGen ESP |
|
|
rs1464041545 CA386261661 |
602 | V>M | No |
ClinGen TOPMed |
|
|
rs774350834 CA6742112 |
604 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6742114 rs772218043 |
608 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386261743 rs1395015331 |
609 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1185621171 CA386261763 |
610 | Y>C | No |
ClinGen Ensembl |
|
|
rs775877103 CA6742115 |
611 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272110651 CA386261795 |
612 | R>S | No |
ClinGen TOPMed |
|
|
CA6742116 rs761009435 |
618 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1196289076 CA386261877 |
619 | K>Q | No |
ClinGen TOPMed |
|
|
CA386261898 rs1341445648 |
620 | G>A | No |
ClinGen TOPMed |
|
|
rs764486594 CA386261904 |
621 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs764486594 CA6742117 |
621 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1235750427 CA386261956 |
625 | E>G | No |
ClinGen gnomAD |
|
|
rs754339350 CA6742118 |
626 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386261998 TCGA novel rs1222403264 |
628 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA386261994 rs1317688470 |
628 | M>T | No |
ClinGen gnomAD |
|
|
CA6742119 rs762365167 |
629 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1323734878 CA386262028 |
630 | L>I | No |
ClinGen TOPMed |
|
|
rs764748303 CA6742120 |
631 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6742121 rs749908188 |
633 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA386262156 rs1254245581 |
636 | A>V | No |
ClinGen gnomAD |
|
|
rs1167023929 CA386262240 |
640 | T>I | No |
ClinGen gnomAD |
|
|
rs77834422 CA6742123 |
641 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335547641 CA386262249 |
641 | G>C | No |
ClinGen TOPMed |
|
|
rs751305487 CA6742124 |
642 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA242165262 rs144582951 |
643 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1421477470 CA386262914 |
645 | I>F | No |
ClinGen gnomAD |
|
|
rs765693560 CA6742138 |
645 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs762347272 CA6742140 |
646 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762347272 CA6742141 |
646 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749897356 CA242166093 |
646 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742144 rs369024114 |
650 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386262947 rs1565789287 |
651 | R>K | No |
ClinGen Ensembl |
|
|
rs1398765387 CA386262951 |
651 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144178978 CA6742145 |
653 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742147 rs777552384 |
659 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs756033604 CA6742146 |
659 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6742148 rs749292591 |
664 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758407390 CA6742149 |
665 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6742169 rs757231752 |
666 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386263063 rs757231752 |
666 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386263102 rs1405337257 |
672 | R>Q | No |
ClinGen gnomAD |
|
|
COSM242210 rs77466434 CA6742171 |
672 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1324301459 CA386263110 |
673 | Q>L | No |
ClinGen gnomAD |
|
|
rs865882533 CA242167421 |
674 | S>F | No |
ClinGen Ensembl |
|
|
CA242167422 rs78531646 |
677 | A>S | No |
ClinGen Ensembl |
|
|
CA6742173 rs781367733 |
678 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742174 rs781367733 |
678 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142367906 CA6742175 |
679 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742176 rs373556740 |
680 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749696639 CA6742177 |
680 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6742178 rs749696639 |
680 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1000291507 CA242167471 |
682 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 684 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151294243 CA242167479 |
685 | V>F | No |
ClinGen ESP TOPMed |
|
|
rs1280250819 CA386263251 |
686 | P>S | No |
ClinGen gnomAD |
|
|
rs773955980 CA6742179 |
688 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396009018 CA386263290 |
689 | V>A | No |
ClinGen TOPMed |
|
|
rs1227729036 CA386263283 |
689 | V>M | No |
ClinGen gnomAD |
|
|
CA386263302 rs1270973004 |
690 | N>S | No |
ClinGen gnomAD |
|
|
CA386263314 rs1336674781 |
691 | D>Y | No |
ClinGen gnomAD |
|
|
CA6742181 rs767178349 |
692 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1237206733 CA386263330 |
692 | Y>D | No |
ClinGen gnomAD |
|
|
rs775006012 CA6742182 |
693 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs77005911 CA6742183 |
693 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 696 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761700394 CA6742186 |
698 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742185 rs753671569 |
698 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA386263490 rs1394561622 |
704 | H>R | No |
ClinGen gnomAD |
|
|
rs1411928715 CA386263505 |
705 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM933919 CA6742187 rs765182802 |
707 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386263546 COSM3792092 rs1414015424 |
708 | Q>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386263552 rs1291395369 |
709 | T>A | No |
ClinGen gnomAD |
|
|
CA242167553 rs1009150951 |
710 | A>S | No |
ClinGen TOPMed |
|
|
rs1357072688 CA386263575 |
711 | V>I | No |
ClinGen gnomAD |
|
|
CA6742188 rs750408958 |
712 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6742189 rs755017500 |
713 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs962327787 CA242167567 |
713 | D>E | No |
ClinGen TOPMed |
|
|
CA6742191 rs781316396 |
715 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781316396 CA6742190 |
715 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370762874 CA6742193 |
718 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563341513 CA242168834 |
719 | V>A | No |
ClinGen Ensembl |
|
|
CA6742211 rs756247390 |
719 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6742212 rs150039308 |
720 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386264086 rs1310961013 |
721 | L>H | No |
ClinGen TOPMed |
|
|
COSM1358132 CA386264099 rs1194106783 |
722 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM933920 rs1377258496 CA386264102 |
722 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1175003391 CA386264124 |
723 | Y>C | No |
ClinGen TOPMed |
|
|
CA386264160 rs1452856127 |
725 | L>* | No |
ClinGen gnomAD |
|
|
CA6742214 rs199642959 |
726 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742216 rs746323616 |
727 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742217 rs772710430 |
728 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs371232504 CA6742219 |
729 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768101644 CA6742220 |
730 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742221 rs376351923 |
733 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242168872 COSM2063225 rs376351923 |
733 | S>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1593426921 CA386264312 |
734 | A>T | No |
ClinGen Ensembl |
|
|
rs761518561 CA6742222 |
736 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 738 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742223 rs368178402 |
740 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1593426937 CA386264446 |
741 | E>A | No |
ClinGen Ensembl |
|
|
CA386264438 rs372446066 |
741 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6742224 rs372446066 |
741 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1280354014 CA386264484 |
743 | I>K | No |
ClinGen TOPMed |
|
|
rs1247490575 CA386264490 |
743 | I>M | No |
ClinGen gnomAD |
|
|
rs1350119529 CA386264480 |
743 | I>V | No |
ClinGen TOPMed |
|
|
CA386264494 rs1238907073 |
744 | S>G | No |
ClinGen gnomAD |
|
|
CA386264497 rs1238907073 |
744 | S>R | No |
ClinGen gnomAD |
|
|
rs772947510 CA6742245 |
746 | H>R | No |
ClinGen ExAC |
|
|
rs769437203 CA6742244 |
746 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs569253169 CA242170903 |
748 | H>L | No |
ClinGen TOPMed |
|
|
CA6742246 rs749099686 |
748 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA6742248 rs548791318 |
749 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA242170942 rs921424681 |
750 | M>K | No |
ClinGen TOPMed |
|
|
rs947336100 CA242170935 |
750 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6742249 rs759453176 |
752 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1392415359 CA386264813 |
755 | F>I | No |
ClinGen gnomAD |
|
|
CA6742251 rs142042282 |
760 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771476091 CA242170983 |
762 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA242170981 rs1041240779 |
762 | H>Y | No |
ClinGen Ensembl |
|
|
CA386264875 rs1287605356 |
763 | L>P | No |
ClinGen TOPMed |
|
|
rs765579418 CA6742253 |
763 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386264881 rs1226808409 |
764 | E>G | No |
ClinGen gnomAD |
|
|
rs752091527 CA6742257 |
768 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6742258 COSM199551 rs755453169 |
768 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386264912 rs1474206433 |
769 | H>P | No |
ClinGen gnomAD |
|
|
rs1206095532 CA386264953 |
773 | E>* | No |
ClinGen TOPMed |
|
|
rs753248883 CA6742278 |
773 | E>V | No |
ClinGen ExAC gnomAD |
|
|
COSM933922 rs934531426 CA242171322 |
775 | Q>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs755587225 CA6742279 |
776 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs755587225 CA386264974 |
776 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386264973 rs755587225 |
776 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1440346893 CA386264977 |
777 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 778 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 778 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291035437 CA386265007 |
780 | D>E | No |
ClinGen gnomAD |
|
|
rs777325421 CA6742281 |
781 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1362911591 CA386265008 |
781 | E>K | No |
ClinGen gnomAD |
|
|
CA242171350 COSM1706100 rs1040920690 |
783 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA386265026 rs1040920690 |
783 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 784 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753475253 CA6742282 |
784 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753475253 CA6742283 |
784 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778733436 CA6742284 |
786 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386265050 rs1389337278 |
787 | E>G | No |
ClinGen gnomAD |
|
|
rs1279277357 CA386265053 |
788 | S>R | No |
ClinGen gnomAD |
|
|
CA386265067 rs1213348726 |
789 | W>* | No |
ClinGen gnomAD |
|
|
rs780109691 CA6742287 |
790 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386265082 rs1465059609 |
791 | Q>L | No |
ClinGen gnomAD |
|
|
rs1022302681 CA242171401 |
793 | Q>E | No |
ClinGen TOPMed |
|
|
CA6742288 rs747012443 |
793 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA386265105 rs1299984313 |
795 | G>R | No |
ClinGen TOPMed |
|
|
CA242171405 rs142589004 |
796 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1455209571 CA386265126 |
798 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 798 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742290 rs773438686 |
800 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742291 rs183129088 |
801 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386265183 rs1161712640 |
806 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386265184 rs1161712640 |
806 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386265181 rs1161712640 |
806 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1389856320 CA386265329 |
814 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 814 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143064975 CA6742292 |
814 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742293 rs774725398 |
816 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759796303 CA6742294 |
820 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386265512 rs1565790969 |
822 | F>L | No |
ClinGen Ensembl |
|
|
rs767907847 CA6742295 |
822 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767907847 CA6742296 |
822 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148224454 CA6742297 |
827 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386265612 rs1329641212 COSM933925 |
829 | T>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6742300 rs756889679 |
832 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA386265655 rs1462895524 |
832 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 836 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750134146 CA6742302 |
838 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778411929 CA6742301 |
838 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6742303 rs758267087 |
840 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6742304 rs780049886 |
841 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386265777 rs1356368141 |
843 | S>F | No |
ClinGen gnomAD |
|
|
CA242171567 rs866980459 |
844 | P>L | No |
ClinGen Ensembl |
|
|
rs746883525 CA6742305 |
844 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 844 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386265800 rs1406242380 |
847 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 850 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742309 rs141236784 |
851 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141236784 CA6742308 |
851 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528223192 CA6742326 |
852 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386266388 rs1308753600 |
852 | N>S | No |
ClinGen gnomAD |
|
|
rs1270999205 CA386266393 COSM415675 |
853 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748155809 CA6742327 |
854 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs148068961 CA6742328 |
856 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386266417 rs1291147923 |
856 | P>S | No |
ClinGen gnomAD |
|
|
rs1301043812 CA386266420 |
857 | A>T | No |
ClinGen TOPMed |
|
|
CA6742329 rs779105428 |
857 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742330 rs746025682 |
864 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746025682 CA6742331 |
864 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775784330 CA6742332 |
865 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs776008041 CA242175991 |
866 | D>N | No |
ClinGen Ensembl |
|
|
CA386266525 rs1274826256 |
866 | D>V | No |
ClinGen gnomAD |
|
|
rs759190580 CA6742334 |
868 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747352423 CA6742333 |
868 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150773203 CA6742335 |
869 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742336 rs762442450 |
871 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1192976554 CA386266596 |
872 | K>R | No |
ClinGen gnomAD |
|
|
CA386266612 rs1371519214 |
873 | G>E | No |
ClinGen gnomAD |
|
|
rs1371519214 CA386266614 |
873 | G>V | No |
ClinGen gnomAD |
|
|
rs1476549009 CA386266622 |
874 | M>L | No |
ClinGen gnomAD |
|
|
rs764592255 CA6742337 |
874 | M>T | No |
ClinGen ExAC |
|
|
CA242176021 rs867431510 |
875 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 876 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386266671 rs1428976672 |
878 | E>Q | No |
ClinGen gnomAD |
|
|
rs1593430345 CA386266686 |
879 | I>T | No |
ClinGen Ensembl |
|
|
CA6742339 rs142705721 |
880 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751305479 CA6742341 |
882 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs766147135 CA6742340 |
882 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754788380 CA6742342 |
884 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1332510569 CA386266763 |
885 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201214965 CA6742346 |
885 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386266760 rs201214965 |
885 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6742345 rs201214965 |
885 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6742348 rs758522706 |
888 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6742347 rs745970567 |
888 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1346532020 CA386266804 |
889 | E>K | No |
ClinGen gnomAD |
|
|
rs894595326 CA242176079 |
892 | E>K | No |
ClinGen Ensembl |
|
|
rs768204318 CA242176086 |
894 | E>G | No |
ClinGen Ensembl |
|
|
CA6742349 rs780222059 |
895 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768892597 CA6742351 |
896 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781632334 CA6742352 |
897 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1189460510 CA386266926 |
898 | Q>* | No |
ClinGen gnomAD |
|
|
rs772796121 CA6742355 |
899 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1277920756 CA386266977 |
901 | S>Y | No |
ClinGen TOPMed |
|
|
rs200243638 CA386266998 |
903 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200243638 CA6742356 |
903 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6742357 rs770606237 |
905 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386267027 rs1565792287 |
905 | K>R | No |
ClinGen Ensembl |
|
|
rs774141567 CA6742358 |
907 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742360 rs767156921 |
908 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742362 rs760481676 |
909 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752569880 CA6742361 |
909 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386267090 rs1369848970 |
910 | A>G | No |
ClinGen gnomAD |
|
|
rs1302854275 CA386267113 |
912 | A>G | No |
ClinGen gnomAD |
|
|
CA386267107 rs1373306271 |
912 | A>T | No |
ClinGen TOPMed |
|
|
CA386267414 rs1390832161 |
913 | K>N | No |
ClinGen gnomAD |
|
|
CA386267126 rs1332160486 |
913 | K>R | No |
ClinGen gnomAD |
|
|
COSM933928 CA6742373 CA386267446 rs749876137 |
915 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs999865991 CA242177644 |
917 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6742374 rs140037353 |
917 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868699578 CA242177651 |
918 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771779384 CA6742377 |
920 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224071947 CA386267501 |
920 | Q>K | No |
ClinGen gnomAD |
|
|
CA6742376 rs759072687 |
920 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA6742379 rs376164687 |
921 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201830409 CA6742381 |
925 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565792754 CA386267559 |
927 | N>S | No |
ClinGen Ensembl |
|
|
CA386267569 rs761755493 |
929 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742383 rs370328018 |
929 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370328018 CA6742384 |
929 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742382 rs761755493 |
929 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752898415 CA6742387 |
937 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA242177782 rs867868381 |
937 | L>V | No |
ClinGen Ensembl |
|
|
CA6742388 rs756496096 |
938 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742389 rs778339439 |
939 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386267671 rs778339439 |
939 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742390 rs200584245 |
941 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386267725 rs1411037542 |
943 | Q>* | No |
ClinGen gnomAD |
|
|
CA6742407 rs754279286 |
945 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386267894 rs1450610436 |
948 | Q>E | No |
ClinGen gnomAD |
|
|
CA242178946 rs987315612 |
950 | Q>R | No |
ClinGen TOPMed |
|
|
rs556321414 CA6742409 |
951 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6742410 rs746429618 |
952 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386268008 rs1380755538 |
956 | T>A | No |
ClinGen gnomAD |
|
|
rs757916667 CA6742411 |
958 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1434048136 CA386268056 |
960 | I>V | No |
ClinGen TOPMed |
|
|
CA386268070 rs1343003202 |
961 | M>I | No |
ClinGen gnomAD |
|
|
rs1228992762 CA386268081 |
963 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6742413 rs748782603 |
964 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 964 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386268096 rs1593431887 |
965 | H>R | No |
ClinGen Ensembl |
|
|
CA6742415 rs200779998 |
966 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742414 rs768331170 |
966 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769612197 CA6742417 |
967 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs747914213 CA6742416 |
967 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6742418 rs773192305 |
968 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6742420 rs767575263 |
969 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6742421 rs775434089 |
970 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113800459 CA242179019 |
972 | R>W | No |
ClinGen Ensembl |
|
|
CA386268156 rs1245685411 |
973 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1351691341 CA386268163 |
974 | N>I | No |
ClinGen gnomAD |
|
|
rs749180327 CA6742438 |
976 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749180327 CA386268173 |
976 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386268177 rs1593432110 |
976 | Q>R | No |
ClinGen Ensembl |
|
|
rs1349853976 CA386268184 |
977 | R>S | No |
ClinGen gnomAD |
|
|
rs899621964 CA242179363 |
977 | R>W | No |
ClinGen gnomAD |
|
|
rs1593432119 CA386268212 |
981 | D>V | No |
ClinGen Ensembl |
|
|
CA6742439 rs770803725 |
982 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742440 rs374755767 |
983 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287074815 CA386268259 |
987 | E>D | No |
ClinGen gnomAD |
|
|
rs768923842 CA6742442 |
988 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386268266 rs1221724463 |
989 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386268276 rs1482398063 |
990 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 991 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242179387 rs1026662161 |
993 | I>V | No |
ClinGen Ensembl |
|
|
CA6742444 rs570614154 |
994 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765574330 CA6742445 |
995 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386268318 rs148536386 |
996 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742446 rs750787167 |
996 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA242179406 rs993857773 |
996 | D>Y | No |
ClinGen TOPMed |
|
|
CA386268338 rs1208114978 |
999 | V>A | No |
ClinGen TOPMed |
|
|
rs539396900 CA6742448 |
999 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142899095 CA6742450 |
1003 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780734604 CA6742451 |
1004 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1034418436 CA242179453 |
1005 | R>* | No |
ClinGen TOPMed |
|
|
CA6742452 rs367580506 |
1005 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309546233 CA386268383 |
1007 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1309546233 CA386268384 |
1007 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA242179462 rs199725568 |
1011 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs749058167 CA6742455 |
1013 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1282040426 CA386268429 |
1014 | R>T | No |
ClinGen gnomAD |
|
|
CA6742470 rs766829244 CA386268835 |
1016 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577310747 CA6742472 |
1017 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774823050 CA6742471 |
1017 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1593434278 CA386269334 COSM1677282 |
1019 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA242183251 rs376327544 |
1019 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742474 rs376327544 |
1019 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1230613261 CA386269375 |
1022 | N>Y | No |
ClinGen gnomAD |
|
|
CA386269400 rs1275951265 |
1023 | K>N | No |
ClinGen gnomAD |
|
|
rs184835287 CA6742476 |
1025 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386269431 rs1199092478 |
1027 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6742477 rs753594919 |
1028 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1281244944 CA386269447 |
1028 | T>S | No |
ClinGen gnomAD |
|
|
rs756988988 CA6742478 |
1029 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386269463 rs756988988 |
1029 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416538703 CA386269468 |
1030 | G>R | No |
ClinGen TOPMed |
|
|
CA6742479 rs778864851 |
1033 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745736302 CA6742480 |
1037 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742481 rs758445591 |
1037 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742483 rs748156914 |
1038 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742484 rs769953865 |
1039 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412055124 CA386269527 |
1039 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs539567687 CA6742485 |
1040 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742486 rs749579850 |
1041 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774700772 CA6742488 |
1043 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6742487 rs771140706 |
1043 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA242183310 rs968642068 |
1046 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313571654 CA386269564 |
1046 | A>V | No |
ClinGen TOPMed |
|
|
rs776025445 CA6742491 |
1047 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760099420 CA6742492 |
1047 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1346173520 CA386269573 |
1048 | T>I | No |
ClinGen gnomAD |
|
|
CA6742493 COSM318279 rs763717393 |
1048 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1049 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266437305 CA386269579 |
1049 | Q>R | No |
ClinGen gnomAD |
|
|
CA386269596 rs1209421135 |
1052 | E>K | No |
ClinGen gnomAD |
|
|
rs375521157 CA6742495 |
1053 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742496 rs765087996 |
1054 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1379103744 CA386269622 |
1055 | I>M | No |
ClinGen gnomAD |
|
|
CA242183369 rs988484500 |
1055 | I>V | No |
ClinGen gnomAD |
|
|
CA386269629 rs1459826678 |
1056 | F>L | No |
ClinGen TOPMed |
|
|
rs954080236 CA242183370 |
1056 | F>V | No |
ClinGen TOPMed |
|
|
CA6742497 rs576184899 |
1058 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386269639 rs1478221812 |
1058 | D>H | No |
ClinGen gnomAD |
|
|
CA242183388 rs933891062 |
1061 | F>S | No |
ClinGen Ensembl |
|
|
rs747030153 CA6742500 |
1063 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA242183401 rs752063895 |
1066 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1069 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409759638 CA386269756 |
1073 | H>R | No |
ClinGen gnomAD |
|
|
rs754945143 CA6742518 |
1079 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386269797 rs754945143 |
1079 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742519 rs199951442 |
1081 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220163644 CA386269806 |
1081 | E>Q | No |
ClinGen gnomAD |
|
|
CA6742520 rs375681505 |
1082 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6742522 rs376634646 |
1084 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742521 rs376634646 |
1084 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247082410 CA386269836 |
1085 | L>F | No |
ClinGen gnomAD |
|
|
CA386269846 rs1266173274 |
1087 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386269845 rs1266173274 |
1087 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1204358919 COSM545774 CA386269856 |
1088 | V>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746147073 CA6742523 |
1088 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746147073 CA386269852 |
1088 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578226793 CA6742524 |
1089 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780474146 CA6742525 |
1090 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA242185137 rs1033692405 |
1092 | G>S | No |
ClinGen TOPMed |
|
|
COSM430157 CA386269877 rs1338509719 |
1092 | G>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs552660501 CA6742527 |
1093 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1510355 CA6742529 rs142628447 |
1093 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs552660501 CA6742528 |
1093 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242185169 rs755486538 |
1095 | H>N | No |
ClinGen gnomAD |
|
|
rs769498323 CA386269898 |
1096 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769498323 CA6742530 |
1096 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742531 rs772982542 |
1096 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742532 rs762704658 |
1097 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6742533 rs766018627 |
1098 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6742535 rs759340911 |
1101 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386269938 rs1408172557 |
1102 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1102 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386269948 rs1377234263 |
1103 | I>M | No |
ClinGen gnomAD |
|
|
rs1159950495 CA386269946 |
1103 | I>T | No |
ClinGen TOPMed |
|
|
rs12303732 CA242185192 |
1105 | L>W | No |
ClinGen Ensembl |
|
|
CA386269976 rs1398022972 |
1106 | K>E | No |
ClinGen gnomAD |
|
|
CA386269981 rs1565795352 |
1106 | K>R | No |
ClinGen Ensembl |
|
|
rs1364591236 CA386270043 |
1110 | H>L | No |
ClinGen gnomAD |
|
|
rs1226333526 CA386270066 |
1111 | L>Q | No |
ClinGen gnomAD |
|
|
rs1272345098 CA386270077 |
1112 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1112 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742538 rs757315993 |
1113 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144955025 CA386270099 |
1113 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750578552 COSM286421 CA6742540 |
1114 | A>T | lung Variant assessed as Somatic; 4.623e-05 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780234831 CA6742542 |
1115 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA386270134 rs974996772 |
1116 | L>V | No |
ClinGen TOPMed |
|
|
CA386270152 rs1186169759 |
1117 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781721867 CA6742545 |
1119 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742547 rs199815086 |
1123 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742546 rs199815086 |
1123 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306594701 CA386270276 |
1124 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs748907134 CA6742549 |
1125 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867223137 CA242185314 |
1126 | M>T | No |
ClinGen TOPMed |
|
|
rs1303671520 CA386270311 |
1126 | M>V | No |
ClinGen gnomAD |
|
|
rs1370266296 CA386270333 |
1127 | T>A | No |
ClinGen gnomAD |
|
|
rs1388225206 CA386270364 |
1128 | A>V | No |
ClinGen gnomAD |
|
|
COSM1322057 CA386270374 rs1355965089 |
1129 | T>N | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6742552 rs759344498 |
1130 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386270410 rs1215092571 |
1132 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA242185383 rs908287297 |
1134 | L>F | No |
ClinGen Ensembl |
|
|
rs775349192 CA6742554 |
1134 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1136 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939701786 CA242185385 |
1136 | Q>R | No |
ClinGen Ensembl |
|
|
rs941358128 CA242185390 |
1137 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA242185418 rs757382700 |
1137 | R>Q | No |
ClinGen Ensembl |
|
|
rs1482388741 CA386271357 |
1140 | I>M | No |
ClinGen gnomAD |
|
|
CA6742568 rs774047938 |
1141 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs745522226 CA6742569 |
1142 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6742570 rs745522226 |
1142 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742571 rs775297709 |
1144 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1145 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742572 rs760557819 |
1147 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1183092145 CA386271399 |
1147 | P>S | No |
ClinGen gnomAD |
|
|
CA6742574 rs776593176 |
1148 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6742575 rs150090423 |
1153 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742577 rs372292737 |
1153 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742576 rs150090423 |
1153 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1352238080 CA386271449 |
1155 | G>R | No |
ClinGen TOPMed |
|
|
CA242188695 rs917181928 |
1156 | I>F | No |
ClinGen gnomAD |
|
|
CA6742578 rs755156739 |
1156 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409051300 CA386271462 |
1157 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1404807430 CA386271470 |
1158 | M>T | No |
ClinGen gnomAD |
|
|
rs376738828 CA386271476 CA6742579 |
1159 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753132635 CA6742581 |
1161 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753132635 CA6742580 |
1161 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386271496 rs1406713277 |
1162 | I>T | No |
ClinGen gnomAD |
|
|
rs778392441 CA6742582 |
1165 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749876191 CA6742583 |
1166 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA386271532 rs1289814370 |
1167 | E>A | No |
ClinGen gnomAD |
|
|
rs1174092723 CA386271555 |
1170 | Q>R | No |
ClinGen TOPMed |
|
|
rs778291360 CA6742585 |
1176 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742587 rs771646018 |
1181 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs540510636 CA6742588 |
1182 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1378415528 CA386271642 |
1183 | A>T | No |
ClinGen TOPMed |
|
|
CA386271652 rs1157471979 |
1184 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6742590 rs768507897 |
1185 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6742589 rs746778315 |
1185 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA6742613 rs138419405 |
1188 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220790601 CA386271709 |
1190 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6742615 rs148863398 |
1192 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs538134846 CA6742614 |
1192 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1194 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742617 rs772343743 |
1195 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6742619 rs760990529 |
1198 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386271832 rs760990529 |
1198 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208470369 CA386271838 |
1199 | P>A | No |
ClinGen TOPMed |
|
|
CA386271847 rs1485599938 |
1200 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1201 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344787741 CA386271873 |
1202 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386271918 rs1461976819 |
1206 | I>L | No |
ClinGen gnomAD |
|
|
CA386271927 rs1208115564 |
1206 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386271980 rs1195280025 |
1209 | W>C | No |
ClinGen gnomAD |
|
|
rs765632457 CA6742623 |
1209 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386271996 rs1375802696 |
1210 | S>R | No |
ClinGen TOPMed |
|
|
CA386272013 rs1373614146 |
1212 | N>H | No |
ClinGen gnomAD |
|
|
CA386272019 rs1466353644 |
1212 | N>S | No |
ClinGen gnomAD |
|
|
rs201748261 CA6742625 |
1213 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242189742 rs918248387 |
1213 | A>V | No |
ClinGen TOPMed |
|
|
rs747180221 CA386272699 |
1214 | R>S | No |
ClinGen ExAC |
|
|
CA6742637 rs768978919 |
1215 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386272704 rs768978919 |
1215 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409359576 CA386272715 |
1217 | P>T | No |
ClinGen gnomAD |
|
|
rs142641785 CA242192433 |
1218 | L>* | No |
ClinGen Ensembl |
|
|
CA386272763 rs1478629957 |
1224 | P>A | No |
ClinGen gnomAD |
|
|
CA242192438 rs200049376 |
1227 | P>A | No |
ClinGen Ensembl |
|
|
rs762081637 CA386272793 CA6742639 |
1228 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA6742640 rs765694981 |
1229 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742642 rs763458770 |
1233 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs567268708 CA242192494 |
1233 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1180240270 CA386272832 |
1234 | N>K | No |
ClinGen TOPMed |
|
|
CA386272835 rs1472573086 |
1235 | V>I | No |
ClinGen TOPMed |
|
|
rs1319015338 CA386272841 |
1236 | F>V | No |
ClinGen gnomAD |
|
|
rs1239855882 CA386272852 |
1237 | A>V | No |
ClinGen gnomAD |
|
|
rs572010130 CA6742644 |
1238 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6742645 rs185536134 |
1239 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386272862 rs1220190241 |
1239 | L>P | No |
ClinGen gnomAD |
|
|
rs1490442743 CA386272870 |
1241 | A>T | No |
ClinGen gnomAD |
|
|
rs140749743 CA6742647 COSM300391 |
1241 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777636821 CA6742649 |
1242 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181835553 CA386272886 |
1243 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1181835553 CA386272885 |
1243 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749171301 CA6742650 |
1244 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6742651 rs757282358 |
1244 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779044360 CA6742652 |
1245 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA386272897 rs1317502247 |
1245 | S>C | No |
ClinGen TOPMed |
|
|
rs1593438644 CA386272900 |
1246 | D>H | No |
ClinGen Ensembl |
|
|
rs76793356 CA6742653 |
1248 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs776706434 CA6742656 |
1251 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742655 rs776706434 |
1251 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768849226 CA6742654 |
1251 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773660885 CA6742658 |
1253 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386272945 rs1390380556 |
1253 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769989869 CA6742657 |
1253 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA242192610 rs967879803 |
1254 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386272949 rs967879803 |
1254 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs866519925 CA242192625 |
1255 | I>T | No |
ClinGen Ensembl |
|
|
CA386272957 rs1248312715 |
1255 | I>V | No |
ClinGen gnomAD |
|
|
CA6742659 rs138765948 |
1256 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742660 rs766846408 |
1257 | D>G | No |
ClinGen ExAC |
|
|
rs1363457079 CA386272984 |
1259 | L>F | No |
ClinGen TOPMed |
|
|
CA6742661 rs150082822 |
1261 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6742663 rs767111217 |
1266 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA242192649 rs1030806628 |
1267 | P>T | No |
ClinGen Ensembl |
|
|
rs1196052071 CA386273042 |
1268 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752232067 CA6742664 |
1268 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386273058 rs1404782074 |
1270 | T>R | No |
ClinGen TOPMed |
|
|
rs1442219154 CA386273080 |
1273 | N>K | No |
ClinGen gnomAD |
|
|
CA6742666 rs755795920 |
1275 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242192658 rs990356408 |
1278 | G>R | No |
ClinGen TOPMed |
|
|
CA6742667 rs763747390 |
1279 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1438476975 CA386273138 |
1280 | V>I | No |
ClinGen gnomAD |
|
|
CA386273170 rs1245945771 |
1282 | P>R | No |
ClinGen TOPMed |
|
|
CA386273163 rs1356663496 |
1282 | P>S | No |
ClinGen gnomAD |
|
|
CA6742669 rs757159501 |
1283 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462651023 CA386273175 |
1283 | G>S | No |
ClinGen gnomAD |
|
|
CA386273204 rs1565797679 |
1285 | A>V | No |
ClinGen Ensembl |
|
|
rs1400392503 CA386273218 |
1286 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1289 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386273279 rs1383347625 |
1289 | G>D | No |
ClinGen gnomAD |
|
|
rs1315899970 CA386273269 |
1289 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs916319852 CA242193104 |
1290 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781663541 CA242193141 |
1293 | T>A | No |
ClinGen Ensembl |
|
|
CA6742697 rs188752585 |
1294 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA242193165 rs1043393547 |
1294 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs188752585 CA6742698 |
1294 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6742696 rs777969594 |
1294 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386273423 rs1177384499 |
1295 | G>E | No |
ClinGen gnomAD |
|
|
CA386273419 rs1471379656 |
1295 | G>R | No |
ClinGen gnomAD |
|
|
rs779255929 CA6742699 |
1296 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs746321279 CA6742700 |
1296 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386273474 rs1291206605 |
1299 | I>S | No |
ClinGen TOPMed |
|
|
rs1157520590 CA386273478 |
1300 | L>I | No |
ClinGen gnomAD |
|
|
rs1052354356 CA242193205 |
1304 | P>H | No |
ClinGen Ensembl |
|
|
rs1302250937 CA386273552 |
1305 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768337638 CA6742704 |
1307 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6742706 rs761558757 |
1308 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776362046 CA6742705 |
1308 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742707 rs765081808 |
1309 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742708 rs750262301 |
1310 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162426599 CA386273638 |
1312 | K>E | No |
ClinGen TOPMed |
|
|
CA6742710 rs766313792 |
1312 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA386273659 rs1424862602 |
1313 | T>N | No |
ClinGen TOPMed |
|
|
CA242193260 rs997330377 |
1314 | T>K | No |
ClinGen Ensembl |
|
|
rs1029110057 CA242193292 |
1315 | I>K | No |
ClinGen Ensembl |
|
|
rs202205893 CA242193293 |
1317 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386273716 rs1200676766 |
1318 | E>A | No |
ClinGen gnomAD |
|
|
CA242193301 rs1006286472 |
1318 | E>D | No |
ClinGen Ensembl |
|
|
rs1490937977 CA386273709 |
1318 | E>K | No |
ClinGen gnomAD |
|
|
rs377526182 CA6742713 |
1321 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1322 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742714 rs753994001 |
1323 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742716 rs550961139 |
1326 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1327 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746211908 CA6742717 |
1331 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1363688234 CA386273923 |
1333 | L>F | No |
ClinGen gnomAD |
|
|
rs1363688234 CA386273920 |
1333 | L>I | No |
ClinGen gnomAD |
|
|
CA6742718 rs758756100 |
1333 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386273972 rs1439582444 |
1337 | S>* | No |
ClinGen gnomAD |
|
|
rs1184164737 CA386253395 |
1338 | K>N | No |
ClinGen gnomAD |
|
|
rs1373394579 CA386273988 |
1338 | K>R | No |
ClinGen gnomAD |
|
|
CA6742746 rs140891740 |
1341 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242382683 rs767886502 |
1343 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774046568 CA6742747 |
1345 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1368396871 CA386253636 |
1347 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1347 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972108450 CA242382693 |
1349 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6742748 rs759421118 |
1350 | S>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1232151 CA6742749 rs767420759 |
1354 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1325262697 CA386253787 |
1357 | L>F | No |
ClinGen gnomAD |
|
|
CA6742753 rs750590866 |
1360 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6742754 rs561334023 COSM318280 |
1362 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA6742755 rs766714525 |
1362 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6742756 rs766714525 |
1362 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs866289187 CA242382759 |
1363 | G>D | No |
ClinGen Ensembl |
|
|
rs781764519 CA6742758 |
1364 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA386253882 rs1260956614 |
1364 | N>S | No |
ClinGen gnomAD |
|
|
CA386253899 rs1488338074 |
1365 | I>V | No |
ClinGen TOPMed |
|
|
CA6742759 rs147946096 |
1366 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs980921290 CA242382763 |
1367 | E>Q | No |
ClinGen TOPMed |
|
|
CA386255460 rs1206857481 |
1368 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6742774 rs759970064 |
1370 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751900429 CA6742773 |
1370 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs768010423 CA386255517 |
1371 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742775 rs768010423 |
1371 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs73378743 CA6742777 |
1373 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753191987 COSM1726787 CA6742776 |
1373 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA386255560 rs1180389641 |
1374 | L>V | No |
ClinGen gnomAD |
|
|
rs1593440345 CA386255580 |
1375 | V>E | No |
ClinGen Ensembl |
|
|
rs887139548 CA242384034 |
1378 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 1378 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1378 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365558701 CA386255709 |
1382 | K>N | No |
ClinGen gnomAD |
|
|
CA386255706 rs1159619354 |
1382 | K>T | No |
ClinGen gnomAD |
|
|
CA386255719 rs1235400055 |
1383 | H>R | No |
ClinGen TOPMed |
|
|
rs1593440360 CA386255751 |
1386 | D>A | No |
ClinGen Ensembl |
|
|
CA6742780 rs368387710 |
1387 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742782 rs142061094 |
1387 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142061094 CA6742781 |
1387 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6742783 rs771786212 |
1388 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1389 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004157912 CA242384049 |
1389 | S>T | No |
ClinGen Ensembl |
|
|
CA386255814 rs1593440373 |
1391 | L>H | No |
ClinGen Ensembl |
|
|
rs577001413 CA6742784 |
1394 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6742785 rs753635463 |
1396 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742786 rs768453138 |
1397 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs528536715 CA242384066 |
1401 | I>L | No |
ClinGen TOPMed |
|
|
rs1488572886 CA386255944 |
1401 | I>T | No |
ClinGen gnomAD |
|
|
rs528536715 CA386255937 |
1401 | I>V | No |
ClinGen TOPMed |
|
|
CA6742788 rs376859385 |
1403 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6742790 rs201836633 |
1404 | K>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA386256001 rs1248025038 |
1405 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386256002 rs1248025038 |
1405 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6742791 rs759845191 |
1406 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1396708382 CA386256077 |
1411 | C>Y | No |
ClinGen TOPMed |
|
|
rs200766524 CA6742792 |
1412 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462698861 CA386256138 |
1416 | T>A | No |
ClinGen gnomAD |
|
|
rs774607968 CA6742811 |
1416 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404041133 CA386256143 |
1417 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA242384233 rs1014025305 |
1418 | S>F | No |
ClinGen TOPMed |
|
|
CA386256172 rs1345634315 |
1419 | D>E | No |
ClinGen TOPMed |
|
|
rs746040572 CA386256161 |
1419 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746040572 CA6742812 |
1419 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386256224 rs775896086 |
1423 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772403943 CA6742813 |
1423 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742814 rs775896086 |
1423 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381379174 CA386256239 |
1425 | K>E | No |
ClinGen gnomAD |
|
|
rs760944434 CA6742815 |
1425 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA242384262 rs758050270 |
1426 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs908634267 CA242384267 |
1427 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386256273 rs1421011577 |
1427 | I>T | No |
ClinGen TOPMed |
|
|
CA386256269 rs1218899485 |
1427 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386256282 rs1486384928 |
1428 | T>A | No |
ClinGen TOPMed |
|
|
CA6742817 rs776935849 |
1429 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386256320 rs776935849 |
1429 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386256332 rs1468264630 |
1430 | V>I | No |
ClinGen Ensembl |
|
|
CA386256374 rs1485829070 |
1432 | K>T | No |
ClinGen gnomAD |
|
|
rs1362442754 CA386256457 |
1433 | L>V | No |
ClinGen gnomAD |
|
|
rs765891022 CA6742843 |
1435 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA242384378 rs751110666 CA386256521 |
1436 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742846 rs767171002 |
1437 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6742845 rs759266823 |
1437 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742847 rs752516463 |
1438 | Q>E | No |
ClinGen ExAC |
|
| TCGA novel | 1438 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371944008 CA386256587 |
1439 | R>T | No |
ClinGen gnomAD |
|
|
rs1221621538 CA386256613 |
1440 | H>P | No |
ClinGen gnomAD |
|
|
rs1355128164 CA386256660 |
1442 | D>G | No |
ClinGen gnomAD |
|
|
rs777849689 CA6742850 |
1443 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6742848 rs756016136 |
1443 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs976824098 CA242384406 |
1443 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1222548828 CA386256694 |
1444 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386256697 rs1222548828 |
1444 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199880162 CA6742853 |
1447 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768900064 COSM170545 CA6742854 |
1448 | V>I | large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781306759 CA6742855 |
1449 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383187013 CA386256788 |
1449 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA242384473 rs113934134 |
1451 | E>G | No |
ClinGen Ensembl |
|
|
rs748505632 CA6742856 |
1452 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405620826 CA386256856 |
1453 | F>S | No |
ClinGen gnomAD |
|
|
rs145374811 CA6742857 |
1454 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773648684 CA6742858 |
1456 | I>V | No |
ClinGen ExAC |
|
|
CA6742859 rs202225479 |
1457 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386256912 rs1332795173 |
1458 | S>F | No |
ClinGen gnomAD |
|
|
CA386256918 rs1378239261 |
1459 | Y>N | No |
ClinGen gnomAD |
|
|
rs773936722 CA6742861 |
1460 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386256946 rs1362013723 |
1461 | K>E | No |
ClinGen gnomAD |
|
|
rs1322610138 CA386256989 |
1464 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA242384513 rs983432198 CA386257013 |
1466 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs967135903 CA242384520 |
1467 | D>E | No |
ClinGen Ensembl |
|
|
rs759019749 CA6742863 |
1467 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386257078 rs1458125051 |
1471 | L>P | No |
ClinGen gnomAD |
|
|
CA6742867 rs763994847 |
1475 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386257170 rs1418263566 |
1478 | C>Y | No |
ClinGen gnomAD |
|
|
rs1172144810 CA386257179 |
1479 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1232152 CA6742868 rs753785975 |
1479 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6742869 rs374268906 |
1480 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335301064 CA386257230 |
1482 | L>Q | No |
ClinGen gnomAD |
|
|
rs1342855511 CA386257245 |
1483 | E>D | No |
ClinGen gnomAD |
|
|
CA386257645 rs1325013944 |
1486 | D>G | No |
ClinGen gnomAD |
|
|
rs201044694 CA6742884 |
1487 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763931199 CA6742885 |
1488 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742886 rs776545622 |
1491 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765762378 CA6742887 |
1492 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765212475 CA6742888 |
1494 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242385552 rs765212475 |
1494 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1497 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742891 rs767496063 |
1498 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6742890 rs755025031 |
1498 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs778022967 CA6742894 |
1501 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA6742893 rs539094192 |
1501 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6742896 rs757630101 |
1504 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386257774 rs1196592044 |
1505 | A>P | No |
ClinGen gnomAD |
|
|
CA6742897 rs779462884 |
1506 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746376511 CA6742898 |
1508 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1509 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742900 rs146459370 |
1509 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299194093 CA386257807 |
1510 | T>R | No |
ClinGen gnomAD |
|
|
rs775161803 CA6742901 |
1511 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386257828 rs1403359604 |
1513 | D>G | No |
ClinGen gnomAD |
|
|
CA386257842 rs1331733432 |
1515 | R>K | No |
ClinGen gnomAD |
|
|
rs923095333 CA242385619 |
1516 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs556113854 CA6742903 |
1518 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11614935 CA242385620 |
1519 | H>P | No |
ClinGen Ensembl |
|
|
rs140971531 CA6742904 |
1520 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs117417637 CA6742905 |
1520 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA242385637 rs117417637 COSM3700178 |
1520 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs200304349 CA6742906 |
1522 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762833409 CA6742908 |
1524 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762833409 CA386257893 |
1524 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314518166 CA386257897 |
1524 | E>V | No |
ClinGen Ensembl |
|
|
CA386257905 rs1451659088 |
1525 | K>R | No |
ClinGen gnomAD |
|
|
rs1362498186 CA386257949 |
1529 | G>V | No |
ClinGen gnomAD |
|
|
rs764296748 CA6742912 |
1532 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6742913 rs754118365 |
1533 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6742914 rs757585781 |
1534 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386258073 rs1243132182 |
1536 | S>N | No |
ClinGen gnomAD |
|
|
rs769589007 CA6742925 |
1537 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386258123 rs1369215771 |
1540 | D>V | No |
ClinGen gnomAD |
|
|
CA242386169 rs1015154195 |
1542 | T>A | No |
ClinGen TOPMed |
|
|
rs1461696490 CA386258152 |
1542 | T>N | No |
ClinGen gnomAD |
|
|
CA386258162 rs1447512117 |
1543 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs139881043 CA6742926 |
1544 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368175517 CA386258187 |
1546 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA6742927 rs368175517 |
1546 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA6742928 rs770829524 |
1547 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA386258214 rs1267193737 |
1548 | L>S | No |
ClinGen gnomAD |
|
|
CA386258231 rs1300048218 |
1550 | Q>E | No |
ClinGen gnomAD |
|
|
CA386258233 rs1300048218 |
1550 | Q>K | No |
ClinGen gnomAD |
|
|
rs774343283 CA6742929 |
1551 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1551 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742930 rs548640606 |
1552 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264785850 CA386258275 |
1554 | N>D | No |
ClinGen TOPMed |
|
|
CA386258301 rs1393998877 |
1556 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1221493725 CA386258310 |
1557 | E>Q | No |
ClinGen gnomAD |
|
|
CA386258352 rs1314627438 |
1560 | D>N | No |
ClinGen gnomAD |
|
|
rs1488613822 CA386258378 |
1562 | V>L | No |
ClinGen TOPMed |
|
|
rs764173740 CA6742931 |
1565 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1566 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960490555 CA242386200 |
1566 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs992310505 CA242386203 |
1568 | H>R | No |
ClinGen Ensembl |
|
|
rs144785642 CA6742933 |
1572 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138618335 CA242386215 |
1573 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs1262992004 CA386258588 |
1574 | F>L | No |
ClinGen gnomAD |
|
|
rs1482570821 CA386258623 |
1575 | F>L | No |
ClinGen gnomAD |
|
|
CA386258682 rs1183917193 |
1578 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA242386217 rs534543110 |
1580 | H>Q | No |
ClinGen 1000Genomes |
|
|
rs1338811213 CA386258715 |
1580 | H>Y | No |
ClinGen Ensembl |
|
|
rs1322998782 CA386258734 |
1581 | I>T | No |
ClinGen TOPMed |
|
|
rs765543488 CA6742934 |
1581 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428336742 CA386258749 |
1582 | Q>R | No |
ClinGen gnomAD |
|
|
CA386258865 rs765373209 |
1583 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742953 rs765373209 |
1583 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386258857 rs1302196265 |
1583 | I>V | No |
ClinGen gnomAD |
|
|
rs1383687438 CA386258955 |
1589 | A>V | No |
ClinGen Ensembl |
|
|
rs1030652195 CA242386787 |
1593 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1593 | L>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742956 rs766850977 |
1594 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1488716489 CA386259028 |
1595 | K>R | No |
ClinGen gnomAD |
|
|
rs1221984289 CA386259042 |
1596 | Q>R | No |
ClinGen gnomAD |
|
|
CA386259069 rs1425715866 |
1598 | M>T | No |
ClinGen gnomAD |
|
|
CA386259062 rs1191851831 |
1598 | M>V | No |
ClinGen gnomAD |
|
|
CA6742957 rs752070046 |
1600 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6742959 rs149336135 |
1603 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367941748 CA6742960 |
1604 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777281225 CA6742962 |
1606 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386259200 rs1365289231 |
1608 | S>F | No |
ClinGen TOPMed |
|
|
rs756979304 CA386259205 |
1609 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386259209 rs1423116818 |
1609 | L>P | No |
ClinGen TOPMed |
|
|
rs756979304 CA6742964 |
1609 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778713790 CA6742965 |
1610 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6742966 rs745758873 |
1614 | M>I | No |
ClinGen ExAC |
|
|
CA386259264 rs1445256995 |
1615 | P>S | No |
ClinGen gnomAD |
|
|
CA6742967 rs771964399 |
1616 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1312147742 CA386259269 |
1616 | Y>H | No |
ClinGen gnomAD |
|
|
CA242386921 rs1029074136 |
1617 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1287911608 CA386259279 |
1617 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386259296 rs1323746921 |
1620 | P>A | No |
ClinGen gnomAD |
|
|
rs1323746921 CA386259297 |
1620 | P>S | No |
ClinGen gnomAD |
|
|
rs1222335366 CA386259303 |
1621 | I>V | No |
ClinGen gnomAD |
|
|
rs1456536811 CA386259320 |
1623 | D>G | No |
ClinGen gnomAD |
|
|
rs1232406484 CA386259316 |
1623 | D>N | No |
ClinGen gnomAD |
|
|
rs1456536811 CA386259321 |
1623 | D>V | No |
ClinGen gnomAD |
|
|
rs1463191340 CA386259327 |
1624 | E>G | No |
ClinGen TOPMed |
|
|
CA242386929 rs986388533 |
1624 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6742968 rs775562299 |
1625 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200660845 CA6742969 |
1627 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390137775 CA386260525 |
1629 | H>Q | No |
ClinGen TOPMed |
|
|
rs1259833257 CA386260522 |
1629 | H>R | No |
ClinGen gnomAD |
|
|
rs199793716 CA6742982 |
1633 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1635 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1637 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6742985 rs758246406 |
1638 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386260603 rs1182060868 |
1639 | I>V | No |
ClinGen gnomAD |
|
|
CA242390251 rs918519737 |
1640 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779797414 CA6742986 |
1642 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM32703 VAR_036274 CA6742987 rs140657361 |
1645 | K>I | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6742988 rs769717548 |
1645 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414433334 CA386260647 |
1646 | H>N | No |
ClinGen gnomAD |
|
|
rs1414433334 CA386260649 |
1646 | H>Y | No |
ClinGen gnomAD |
|
|
rs1435638396 CA386260666 |
1648 | S>F | No |
ClinGen TOPMed |
|
|
rs375635027 CA242390265 |
1649 | W>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs184720709 CA6742989 |
1651 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242390274 rs184720709 |
1651 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1277806435 CA386260708 |
1652 | Y>C | No |
ClinGen gnomAD |
|
|
CA386260726 rs1565801797 |
1653 | M>T | No |
ClinGen Ensembl |
|
|
rs771250173 CA6742991 |
1653 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6742994 rs767941739 |
1656 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6742993 rs759969869 |
1656 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199772212 CA386260782 |
1657 | K>R | No |
ClinGen gnomAD |
|
|
CA386260789 rs775793754 |
1658 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775793754 CA6742995 |
1658 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386260810 rs1443914250 |
1659 | F>S | No |
ClinGen gnomAD |
|
|
rs763464301 CA6742997 |
1661 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs753325126 CA6742998 |
1665 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs77578150 CA6743000 |
1666 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242390302 rs537785440 |
1669 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs556112079 CA242390304 |
1669 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6743001 rs750088372 |
1673 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1212612075 CA386261014 |
1676 | L>F | No |
ClinGen gnomAD |
|
|
rs764731370 CA6743022 |
1679 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386261092 rs1390371648 |
1685 | H>Y | No |
ClinGen gnomAD |
|
|
rs750032755 CA6743023 |
1687 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA242390797 rs867243698 |
1687 | D>N | No |
ClinGen Ensembl |
|
|
CA386261149 rs1391753731 |
1688 | H>Q | No |
ClinGen TOPMed |
|
|
rs762685426 CA6743024 |
1688 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765993610 CA6743025 |
1690 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562904840 CA242390808 |
1691 | L>P | No |
ClinGen 1000Genomes |
|
|
rs751335167 CA6743027 |
1694 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743028 rs373208716 |
1698 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1702 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242391673 rs772682870 |
1704 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772682870 CA6743044 |
1704 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339467483 CA386261646 |
1704 | A>V | No |
ClinGen gnomAD |
|
|
rs762406678 CA6743045 |
1705 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1050847513 CA242391678 |
1705 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6743046 rs766047935 |
1708 | I>V | No |
ClinGen ExAC |
|
|
rs773936056 CA6743047 |
1709 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773936056 CA6743048 |
1709 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1715 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386261825 rs1459490674 |
1717 | E>* | No |
ClinGen gnomAD |
|
|
rs759446787 CA242391697 |
1719 | E>Q | No |
ClinGen Ensembl |
|
|
rs1196699046 CA386261868 |
1720 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756143997 CA6743051 |
1720 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386261874 rs756143997 COSM3810782 |
1720 | R>P | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764176723 CA6743052 |
1722 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386261923 rs1285890174 |
1724 | E>Q | No |
ClinGen TOPMed |
|
|
rs750486862 CA6743053 |
1725 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226298360 CA386261991 |
1728 | Y>H | No |
ClinGen TOPMed |
|
|
rs758462757 CA6743054 |
1729 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1397969450 CA386262051 |
1730 | C>Y | No |
ClinGen gnomAD |
|
|
rs1565802612 CA386262064 |
1731 | K>E | No |
ClinGen Ensembl |
|
|
CA6743057 rs776367536 |
1732 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776367536 CA386262099 |
1732 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346558162 CA386262116 |
1733 | L>* | No |
ClinGen Ensembl |
|
|
rs1363560163 CA386262181 |
1736 | N>H | No |
ClinGen TOPMed |
|
|
rs1394130991 CA386262192 |
1736 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA242391737 rs868446613 |
1737 | G>R | No |
ClinGen gnomAD |
|
|
rs138643360 CA6743059 |
1739 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386262251 rs1565802631 |
1739 | P>S | No |
ClinGen Ensembl |
|
|
CA386262303 rs1319436791 |
1742 | P>A | No |
ClinGen gnomAD |
|
|
rs1014340936 CA242391743 |
1742 | P>L | No |
ClinGen TOPMed |
|
|
CA6743062 rs773656267 |
1743 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1049360452 CA242391765 |
1744 | P>A | No |
ClinGen TOPMed |
|
|
CA386262364 rs1482480147 |
1745 | A>V | No |
ClinGen gnomAD |
|
|
CA386262367 rs1403432291 |
1746 | D>N | No |
ClinGen gnomAD |
|
|
CA682724591 rs1405053064 |
1748 | G>N | No |
ClinGen TOPMed |
|
|
rs1446259644 CA386262414 |
1749 | G>E | No |
ClinGen TOPMed |
|
|
CA386262448 rs1258423462 |
1752 | A>D | No |
ClinGen gnomAD |
|
|
rs1593446066 CA386262457 |
1753 | K>E | No |
ClinGen Ensembl |
|
|
rs1488101471 CA386262463 |
1753 | K>I | No |
ClinGen gnomAD |
|
|
CA6743065 rs773991609 |
1754 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386262506 rs1171039688 |
1756 | E>D | No |
ClinGen gnomAD |
|
|
rs537149110 CA6743067 |
1756 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386262531 rs1390790093 |
1758 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775403795 CA6743068 |
1759 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760587520 CA6743069 |
1760 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs764125310 CA6743070 |
1762 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6743071 rs764125310 |
1762 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386262622 rs1399046537 |
1765 | L>I | No |
ClinGen gnomAD |
|
|
rs201687062 CA6743073 |
1769 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386262686 rs1214716769 |
1769 | K>T | No |
ClinGen gnomAD |
|
|
CA386262697 rs1301109383 |
1770 | E>K | No |
ClinGen gnomAD |
|
|
CA6743074 rs751752396 |
1772 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs370227791 CA6743075 |
1775 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235823719 CA386262749 |
1775 | T>S | No |
ClinGen gnomAD |
|
|
CA242391814 rs957622751 |
1776 | I>S | No |
ClinGen gnomAD |
|
|
rs1214693483 CA386262760 |
1777 | K>E | No |
ClinGen gnomAD |
|
|
rs1368112919 CA386262779 |
1779 | I>T | No |
ClinGen gnomAD |
|
|
CA386262785 rs1220737843 |
1780 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs781431203 CA6743076 |
1781 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1782 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748505798 CA6743077 |
1782 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1190687504 CA386262798 |
1782 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1434611335 CA386262801 |
1783 | I>V | No |
ClinGen Ensembl |
|
|
rs202007555 CA6743080 |
1784 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386262811 rs1273094961 |
1784 | T>I | No |
ClinGen TOPMed |
|
|
CA6743082 rs770436107 |
1785 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770436107 CA386262813 |
1785 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745423859 CA6743084 |
1786 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386262826 rs1593446151 |
1787 | I>F | No |
ClinGen Ensembl |
|
|
rs1565802736 CA386262847 |
1790 | R>K | No |
ClinGen Ensembl |
|
|
rs1203143200 CA386262854 |
1791 | L>P | No |
ClinGen gnomAD |
|
|
rs143164886 CA6743088 |
1796 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242391851 rs964359460 |
1796 | A>S | No |
ClinGen Ensembl |
|
|
rs966475727 CA242391861 |
1797 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6743089 rs776588186 |
1798 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743090 rs776588186 |
1798 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761708682 CA6743108 |
1799 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769612786 CA6743109 |
1800 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6743110 rs773190450 |
1800 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA386263768 rs1457280701 |
1801 | R>G | No |
ClinGen gnomAD |
|
|
CA242394509 rs1006661189 |
1801 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764430407 CA6743115 |
1809 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6743116 rs754125503 |
1810 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6743118 rs779277196 |
1811 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1464549657 CA386263842 |
1811 | K>R | No |
ClinGen gnomAD |
|
|
CA6743119 rs750967262 |
1815 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs779728964 CA6743121 |
1817 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6743120 rs76752752 |
1817 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6743124 rs768218728 |
1819 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6743125 COSM933941 rs747880391 |
1820 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386263899 rs769642275 |
1820 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769642275 CA6743126 |
1820 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386263900 rs1216693636 |
1821 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1824 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743127 rs201154660 |
1826 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs201154660 CA242394568 |
1826 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1235332298 CA386263936 |
1826 | A>V | No |
ClinGen gnomAD |
|
|
CA6743130 rs775525025 |
1827 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA242394581 rs773807111 |
1827 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773807111 CA6743129 |
1827 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749256675 CA6743128 |
1827 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743132 rs377746179 |
1828 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743131 rs377746179 |
1828 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414204246 CA386263954 |
1830 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386263955 rs1414204246 |
1830 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1377460808 CA386263972 |
1832 | Q>L | No |
ClinGen gnomAD |
|
|
rs776973416 CA6743133 |
1834 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242394589 rs756356391 |
1837 | E>Q | No |
ClinGen Ensembl |
|
|
CA6743134 rs762028396 |
1838 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743136 rs750908440 |
1839 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6743135 rs765662675 |
1839 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242394590 rs545662193 |
1839 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA386264027 rs1302850358 |
1841 | A>T | No |
ClinGen TOPMed |
|
|
CA6743137 rs200642215 |
1842 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386264119 rs1284307677 |
1846 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1847 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450586058 CA386264192 |
1849 | K>E | No |
ClinGen gnomAD |
|
|
CA386264226 rs773676126 |
1850 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6743155 rs773676126 |
1850 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1197349017 CA386264218 |
1850 | V>M | No |
ClinGen gnomAD |
|
|
rs1593446999 CA386264239 |
1851 | C>S | No |
ClinGen Ensembl |
|
|
CA6743156 rs763477546 |
1851 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6743157 rs190550846 |
1852 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386264268 rs1471299477 COSM1232155 |
1852 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6743158 rs367575502 |
1853 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754377144 CA6743159 |
1854 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752244186 CA6743161 |
1858 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386264411 rs1396614350 |
1860 | E>K | No |
ClinGen gnomAD |
|
|
rs1335092276 CA386264453 |
1861 | I>M | No |
ClinGen TOPMed |
|
|
CA6743162 rs755769682 |
1861 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777443406 CA6743163 |
1863 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA386264491 rs1468193712 |
1863 | D>Y | No |
ClinGen gnomAD |
|
|
rs757105753 CA6743165 |
1864 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6743164 rs749081214 |
1864 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743166 rs778767258 COSM430160 |
1866 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371374289 CA6743167 |
1866 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275538070 CA386264551 |
1870 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1275538070 CA386264553 |
1870 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386264560 rs1198366616 |
1871 | K>N | No |
ClinGen gnomAD |
|
|
rs748212074 CA6743170 |
1873 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781307701 CA6743169 |
1873 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743171 rs770132309 |
1875 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471817742 CA386264589 |
1876 | L>I | No |
ClinGen gnomAD |
|
|
rs1471817742 CA386264590 |
1876 | L>V | No |
ClinGen gnomAD |
|
|
CA386264632 rs10082778 |
1882 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_055136 CA6743173 rs10082778 |
1882 | L>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386264631 rs10082778 |
1882 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1330644770 CA386264646 |
1884 | V>A | No |
ClinGen gnomAD |
|
|
rs1392984466 CA386264668 |
1887 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374794776 CA6743177 |
1889 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743178 rs752220287 |
1890 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386264690 rs1382720819 |
1891 | T>A | No |
ClinGen TOPMed |
|
|
rs760245089 CA6743179 |
1891 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386264695 rs1593447113 |
1892 | L>V | No |
ClinGen Ensembl |
|
|
rs763725976 CA6743180 |
1894 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386264707 rs763725976 |
1894 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753504875 CA6743181 |
1894 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA6743183 rs778788547 |
1896 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750232665 CA386264730 |
1897 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317960400 CA386264728 |
1897 | Q>L | No |
ClinGen TOPMed |
|
|
CA6743193 rs759858291 |
1898 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1255736818 CA386265233 |
1901 | L>V | No |
ClinGen gnomAD |
|
|
rs775922525 CA386265251 |
1902 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743195 rs775922525 |
1902 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775922525 CA242397924 |
1902 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201199611 CA386265293 |
1904 | T>A | No |
ClinGen TOPMed |
|
|
CA386265305 rs1593449109 |
1904 | T>I | No |
ClinGen Ensembl |
|
|
rs76643734 RCV000879079 CA6743197 |
1905 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386265333 rs1290202929 |
1906 | H>D | No |
ClinGen gnomAD |
|
|
CA6743199 rs761429859 |
1914 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6743200 rs764835175 |
1914 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376472973 CA6743201 |
1918 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743203 rs779982797 |
1919 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs12309241 CA386265607 |
1921 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242397983 rs950096600 |
1921 | L>W | No |
ClinGen gnomAD |
|
|
CA386265623 rs1175125950 |
1922 | D>H | No |
ClinGen gnomAD |
|
|
CA6743205 rs756221544 |
1923 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs565059952 CA6743206 |
1924 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237482838 CA386265681 |
1926 | D>H | No |
ClinGen gnomAD |
|
|
rs1363503291 CA386265686 |
1926 | D>V | No |
ClinGen gnomAD |
|
|
rs749429613 CA6743207 |
1927 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386265714 rs1369227332 |
1928 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386265706 rs1301253079 |
1928 | M>V | No |
ClinGen gnomAD |
|
|
CA242399116 rs998844009 |
1931 | I>M | No |
ClinGen gnomAD |
|
|
CA6743222 rs200676365 |
1931 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386265860 rs1481098287 |
1933 | N>K | No |
ClinGen TOPMed |
|
|
RCV000885823 CA6743223 rs79904445 |
1934 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1408387304 CA386265873 |
1935 | E>G | No |
ClinGen gnomAD |
|
|
CA386265912 rs1328287343 |
1941 | A>T | No |
ClinGen gnomAD |
|
|
rs1215529686 CA386265929 |
1943 | E>G | No |
ClinGen gnomAD |
|
|
rs766116806 CA6743224 |
1944 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6743225 rs548762458 |
1945 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175113596 CA386265942 |
1945 | E>V | No |
ClinGen gnomAD |
|
|
CA386265962 rs1383695558 |
1948 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1948 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743227 rs767605228 |
1950 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275523044 CA386265987 |
1952 | K>E | No |
ClinGen TOPMed |
|
|
rs568702973 CA6743230 |
1954 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386266011 rs1327226475 |
1955 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6743231 rs746086197 |
1956 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758751810 CA6743232 |
1956 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780421838 CA6743233 COSM933944 |
1957 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747411596 CA6743234 |
1957 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1284424760 CA386266029 |
1958 | R>S | No |
ClinGen TOPMed |
|
|
CA386266031 rs1225916509 |
1959 | S>G | No |
ClinGen TOPMed |
|
|
CA6743235 rs534493086 |
1960 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1348670510 CA386266050 |
1961 | S>I | No |
ClinGen TOPMed |
|
|
rs1348670510 CA386266048 |
1961 | S>N | No |
ClinGen TOPMed |
|
|
COSM79095 CA6743238 rs747596099 |
1962 | Y>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761861027 CA6743239 |
1963 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386266061 rs867034932 |
1963 | D>H | No |
ClinGen gnomAD |
|
|
rs867034932 CA242399189 |
1963 | D>N | No |
ClinGen gnomAD |
|
|
rs867034932 CA386266060 |
1963 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6743240 rs762533237 |
1964 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA386266067 rs762533237 |
1964 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA919159451 rs1593449772 |
1965 | Y>* | No |
ClinGen Ensembl |
|
|
CA6743241 rs766103136 |
1965 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1565805218 CA386266090 |
1967 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1968 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743243 rs759472914 |
1969 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1358145 CA6743244 rs759472914 |
1969 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386266107 rs1470933938 |
1970 | K>R | No |
ClinGen TOPMed |
|
|
rs1475938209 CA386266116 |
1971 | F>S | No |
ClinGen gnomAD |
|
|
CA386266123 rs1419431423 |
1972 | V>A | No |
ClinGen gnomAD |
|
|
rs750611754 CA386266140 |
1975 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743248 rs750611754 |
1975 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1976 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1976 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355295570 CA386266150 |
1976 | Q>R | No |
ClinGen gnomAD |
|
|
CA386266161 rs1461113732 |
1978 | T>A | No |
ClinGen TOPMed |
|
|
rs141173458 CA6743249 RCV000885824 |
1979 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs908921210 CA242399297 |
1979 | K>R | No |
ClinGen gnomAD |
|
|
rs1415479382 CA386266173 |
1980 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1361206414 CA386266202 |
1983 | P>S | No |
ClinGen gnomAD |
|
|
CA6743253 rs142320995 |
1985 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386266251 rs1209694154 |
1986 | E>D | No |
ClinGen gnomAD |
|
|
rs1593449829 CA386266247 |
1986 | E>G | No |
ClinGen Ensembl |
|
|
rs201490996 CA6743278 |
1988 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs367851970 CA242400709 |
1989 | Q>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6743279 rs146367811 |
1990 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747940559 CA6743280 |
1992 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743285 rs139139597 |
1998 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6743284 COSM1232149 rs766476346 |
1998 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1334039209 CA386266593 |
1999 | K>E | No |
ClinGen TOPMed |
|
|
CA6743286 rs759731933 |
2001 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242400761 rs948183973 |
2001 | H>R | No |
ClinGen Ensembl |
|
|
rs1038084042 CA242400762 |
2002 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386266640 rs1038084042 |
2002 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386266656 rs1362288476 |
2003 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6743287 rs143153802 COSM1561888 |
2005 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143153802 CA6743288 |
2005 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756559736 CA6743289 |
2005 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756559736 CA6743290 |
2005 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743291 rs754376370 |
2006 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756791850 COSM1358146 CA6743292 |
2006 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA242400810 rs907097284 |
2012 | I>V | No |
ClinGen TOPMed |
|
|
CA242400823 rs771907975 |
2014 | N>K | No |
ClinGen Ensembl |
|
|
CA6743297 rs758097426 |
2015 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386266826 rs1387138993 |
2017 | M>V | No |
ClinGen gnomAD |
|
|
rs1327698488 CA386266868 |
2020 | E>K | No |
ClinGen gnomAD |
|
|
rs1257644076 CA386266886 |
2021 | S>P | No |
ClinGen TOPMed |
|
|
rs779811047 CA6743300 |
2021 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386266898 rs1443687740 |
2022 | I>F | No |
ClinGen gnomAD |
|
|
CA6743301 rs746719745 |
2022 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA386266901 rs746719745 |
2022 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2023 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386266921 rs1565805774 |
2024 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 2027 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242400871 rs1029548418 |
2027 | Y>N | No |
ClinGen Ensembl |
|
|
CA386266976 rs1487678584 |
2028 | G>D | No |
ClinGen TOPMed |
|
|
CA386267003 rs1275677714 |
2030 | I>S | No |
ClinGen gnomAD |
|
|
rs953880159 CA242400881 |
2030 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1195605108 CA386267022 |
2031 | S>R | No |
ClinGen gnomAD |
|
|
rs1357419098 CA6743305 |
2031 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386267028 rs1248634656 |
2032 | E>K | No |
ClinGen gnomAD |
|
|
CA242400910 rs1034990688 |
2035 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA242400902 rs1034990688 |
2035 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6743308 rs776389782 |
2038 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6743309 rs776389782 |
2038 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA386267127 rs1419953921 |
2040 | K>E | No |
ClinGen gnomAD |
|
|
CA386267137 rs1458176673 |
2040 | K>N | No |
ClinGen gnomAD |
|
|
rs772200066 CA6743333 |
2043 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386267181 rs1328562245 |
2044 | P>L | No |
ClinGen gnomAD |
|
|
rs1304078142 CA386267197 |
2047 | P>Q | No |
ClinGen gnomAD |
|
|
rs760983038 CA6743335 |
2048 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777108135 CA6743337 |
2050 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762337652 CA6743338 |
2052 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6743339 rs200987450 |
2052 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1317060038 CA386267236 |
2054 | P>Q | No |
ClinGen gnomAD |
|
|
CA386267243 rs1258941768 |
2055 | P>L | No |
ClinGen gnomAD |
|
|
CA6743341 rs369147512 |
2055 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743343 rs751078144 |
2056 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765933027 CA6743342 |
2056 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1452153122 CA386267251 |
2057 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 2058 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947252322 CA242401826 |
2059 | L>F | No |
ClinGen TOPMed |
|
|
CA386267280 rs1377686565 |
2061 | L>P | No |
ClinGen gnomAD |
|
|
CA242401856 rs933726574 |
2062 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 2063 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565806049 CA386267287 |
2063 | P>S | No |
ClinGen Ensembl |
|
|
rs373946150 CA6743347 |
2064 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386267303 rs1387803210 |
2065 | P>L | No |
ClinGen gnomAD |
|
|
rs1436224340 CA386267311 |
2067 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777621371 CA6743349 |
2067 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777621371 CA6743348 |
2067 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210241748 CA386267313 |
2068 | G>S | No |
ClinGen gnomAD |
|
|
rs780163654 CA6743351 |
2069 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6743352 rs747101880 |
2072 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242401894 rs942303087 |
2073 | V>L | No |
ClinGen TOPMed |
|
|
rs768922754 CA6743353 |
2074 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1393688301 CA386267363 |
2076 | R>G | No |
ClinGen TOPMed |
|
|
CA6743354 rs777054847 |
2076 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466227031 CA386267379 |
2078 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6743355 rs762198453 |
2078 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209327683 CA386267386 |
2079 | N>S | No |
ClinGen gnomAD |
|
|
CA386267391 rs1593451011 |
2080 | M>V | No |
ClinGen Ensembl |
|
|
CA386267422 rs1467016299 |
2082 | I>M | No |
ClinGen gnomAD |
|
|
CA6743356 rs377393735 |
2082 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386267430 rs1490904654 |
2083 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2084 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386267439 rs1192567844 |
2084 | I>V | No |
ClinGen gnomAD |
|
|
CA386267462 rs1197613106 |
2085 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1417950513 CA386267484 |
2087 | G>A | No |
ClinGen gnomAD |
|
|
rs139993869 CA6743359 |
2089 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368816848 CA6743358 |
2089 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1187769913 CA386267631 |
2092 | H>L | No |
ClinGen gnomAD |
|
|
rs1416350837 CA386267652 |
2094 | S>N | No |
ClinGen gnomAD |
|
|
rs1165970202 CA386267720 |
2099 | K>R | No |
ClinGen gnomAD |
|
|
rs540667932 CA6743372 |
2100 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540667932 CA242402957 |
2100 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540667932 CA386267730 |
2100 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2102 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743374 rs566317967 |
2105 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs773678254 CA6743375 |
2110 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA386267818 rs1414253848 |
2112 | D>Y | No |
ClinGen gnomAD |
|
|
CA6743377 rs180913369 |
2113 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386267850 rs1353516040 |
2115 | V>L | No |
ClinGen gnomAD |
|
|
rs1446755889 CA386267881 |
2117 | L>R | No |
ClinGen TOPMed |
|
|
CA386267888 rs1290299896 |
2118 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs139860197 CA6743380 |
2119 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242403074 rs867384052 |
2124 | S>F | No |
ClinGen Ensembl |
|
|
rs117476305 CA6743381 RCV000957672 |
2128 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386268461 rs1163282535 |
2132 | G>S | No |
ClinGen gnomAD |
|
|
CA386268476 rs1416819823 |
2134 | L>S | No |
ClinGen TOPMed |
|
|
rs145553624 CA6743408 |
2135 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs977857106 CA242404761 |
2136 | C>* | No |
ClinGen Ensembl |
|
|
CA386268488 rs1593452383 |
2136 | C>R | No |
ClinGen Ensembl |
|
|
rs1334670287 CA386268502 |
2138 | I>V | No |
ClinGen gnomAD |
|
|
CA386268535 rs1432589311 |
2142 | R>S | No |
ClinGen gnomAD |
|
|
CA6743411 rs142621773 |
2144 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386268559 rs1272789747 |
2146 | P>L | No |
ClinGen gnomAD |
|
|
CA386268554 rs1181643591 |
2146 | P>T | No |
ClinGen TOPMed |
|
|
CA6743414 rs749504475 |
2148 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386268581 rs1258312028 |
2150 | T>A | No |
ClinGen TOPMed |
|
|
CA386268584 rs1213679753 |
2150 | T>I | No |
ClinGen TOPMed |
|
|
CA386268589 rs1284127014 |
2151 | K>T | No |
ClinGen gnomAD |
|
|
rs532458001 CA6743415 |
2152 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2152 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743416 rs779125530 |
2153 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759751947 CA242404823 |
2154 | Q>R | No |
ClinGen Ensembl |
|
|
CA242404825 rs368586505 |
2157 | K>E | No |
ClinGen ESP TOPMed |
|
|
rs887618091 CA242404826 |
2158 | H>N | No |
ClinGen Ensembl |
|
|
rs753723276 CA6743418 |
2158 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310236420 CA386268668 |
2164 | K>E | No |
ClinGen TOPMed |
|
|
CA6743419 rs146353954 |
2164 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746467924 CA6743420 |
2167 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1478368080 CA386268690 |
2167 | A>T | No |
ClinGen gnomAD |
|
|
CA242404839 rs990604941 |
2169 | L>P | No |
ClinGen TOPMed |
|
|
CA6743423 rs372898217 |
2170 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386268716 rs1161357834 |
2171 | A>D | No |
ClinGen gnomAD |
|
|
rs141629518 CA6743425 |
2172 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150422308 CA6743426 RCV000903319 |
2173 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751546746 CA6743428 |
2175 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1278420231 CA386268757 |
2177 | F>L | No |
ClinGen gnomAD |
|
|
CA6743429 rs760797743 |
2177 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs11615135 CA242404919 |
2178 | H>P | No |
ClinGen Ensembl |
|
|
rs1565806957 CA386268760 |
2178 | H>Y | No |
ClinGen Ensembl |
|
|
CA6743431 rs138226932 |
2179 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242404927 rs138226932 |
2179 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743432 rs754000492 |
2181 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6743433 rs149603349 |
2182 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75031616 CA242404945 |
2182 | N>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 2184 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242404994 rs144338772 |
2185 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA6743445 rs562091153 |
2186 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1471708181 CA386268851 |
2187 | V>M | No |
ClinGen TOPMed |
|
|
rs1272759174 CA386268859 |
2188 | T>I | No |
ClinGen gnomAD |
|
|
rs774383044 CA6743446 |
2190 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767532247 CA6743448 |
2191 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2194 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462264044 CA386268906 |
2195 | K>N | No |
ClinGen TOPMed |
|
|
rs753860891 CA6743449 |
2198 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743450 rs762013459 |
2198 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743451 rs765322230 |
2199 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2202 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386268981 rs1368337868 |
2206 | V>D | No |
ClinGen gnomAD |
|
|
rs1269662887 CA386268995 |
2209 | A>S | No |
ClinGen TOPMed |
|
|
CA6743453 rs369865286 |
2210 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565807141 CA386269012 |
2211 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 2212 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2213 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356151015 CA386269029 |
2214 | D>N | No |
ClinGen TOPMed |
|
|
CA6743456 rs755432902 |
2218 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6743459 rs747551809 CA6743458 |
2219 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6743460 rs747551809 |
2219 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781750460 CA6743457 |
2219 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295621149 CA386269068 |
2220 | R>G | No |
ClinGen gnomAD |
|
|
CA6743461 rs748970812 |
2220 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs770757513 CA6743462 |
2221 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA386269076 rs1279681269 |
2221 | Q>R | No |
ClinGen gnomAD |
|
|
CA386269082 rs1482355052 |
2222 | A>P | No |
ClinGen gnomAD |
|
|
CA6743464 rs745713661 |
2223 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774258450 CA6743463 |
2223 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2225 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201141140 CA6743465 |
2226 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs766523697 CA6743489 |
2231 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1318449487 CA386269155 |
2232 | L>S | No |
ClinGen TOPMed |
|
|
rs1322772093 CA386269165 |
2234 | R>G | No |
ClinGen Ensembl |
|
|
rs774571712 CA6743490 |
2234 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs759771736 CA6743491 |
2235 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386269181 rs1227708285 |
2236 | L>P | No |
ClinGen gnomAD |
|
|
CA386269194 rs1330876766 |
2238 | V>A | No |
ClinGen gnomAD |
|
|
CA6743494 rs180780749 |
2239 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA242406084 rs766100227 |
2242 | D>G | No |
ClinGen Ensembl |
|
|
CA242406103 rs753771405 |
2245 | M>T | No |
ClinGen gnomAD |
|
|
CA6743499 rs778647982 |
2246 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743497 rs753392000 |
2246 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386269256 rs1458054936 |
2248 | V>I | No |
ClinGen gnomAD |
|
|
rs1348552915 CA386269263 |
2249 | S>P | No |
ClinGen gnomAD |
|
|
rs758085666 CA6743501 |
2249 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6743502 rs142287605 |
2253 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743504 rs768579024 |
2257 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs372457025 CA6743506 |
2258 | E>K | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372457025 CA386269333 |
2258 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774397930 CA6743508 |
2259 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771023694 CA6743507 |
2259 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771023694 CA386269344 |
2259 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386269356 rs759773189 |
2260 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6743509 rs759773189 |
2260 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772232264 CA6743510 |
2262 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772232264 CA386269378 |
2262 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775909500 CA6743511 |
2263 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6743512 rs761186850 |
2263 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743513 rs764628008 |
2264 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743514 rs754408117 |
2264 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376562450 CA6743531 |
2268 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762374363 CA6743532 |
2273 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6743533 rs765726286 |
2274 | D>E | No |
ClinGen ExAC |
|
|
rs139827671 CA6743534 |
2275 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386270146 rs1390863865 |
2282 | R>K | No |
ClinGen gnomAD |
|
|
rs1441560158 CA386270164 |
2283 | P>L | No |
ClinGen TOPMed |
|
|
CA386270172 rs1413987690 |
2284 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 2285 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762377711 CA6743535 |
2285 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA386270209 rs1357388069 |
2286 | E>A | No |
ClinGen gnomAD |
|
|
rs766002145 CA6743536 |
2287 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6743538 rs754729985 |
2288 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767269641 CA6743539 |
2293 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6743556 rs759167711 |
2294 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA242409794 rs1024283589 |
2295 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA242409804 rs143189050 |
2296 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386270506 rs1411179830 |
2297 | E>Q | No |
ClinGen gnomAD |
|
|
rs1198690136 CA386270550 |
2300 | R>T | No |
ClinGen TOPMed |
|
|
CA6743561 rs753738063 |
2301 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321254830 CA386270586 |
2303 | T>I | No |
ClinGen gnomAD |
|
|
rs758462810 CA6743562 |
2304 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1032802610 CA242409852 |
2308 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6743567 rs139095183 |
2309 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242409879 rs988527920 |
2309 | Y>N | No |
ClinGen Ensembl |
|
|
CA386270650 rs139095183 |
2309 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6743568 rs149930556 |
2310 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1333312155 CA386270672 |
2311 | F>S | No |
ClinGen TOPMed |
|
|
CA6743570 rs749729594 |
2312 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1292308588 CA386270679 |
2312 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 2312 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386270676 rs1208216424 |
2312 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs771517719 CA6743571 |
2313 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377953817 CA386270714 |
2315 | P>L | No |
ClinGen TOPMed |
|
|
rs1482021096 CA386270710 |
2315 | P>S | No |
ClinGen gnomAD |
|
|
rs773838973 CA6743572 |
2316 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6743573 rs759112591 |
2316 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775080807 CA6743593 |
2320 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743594 rs760211652 |
2320 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199641573 CA6743595 |
2322 | N>S | No |
ClinGen 1000Genomes ExAC |
|
|
COSM933948 CA6743597 rs142260891 |
2324 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA386270838 rs1434644685 |
2325 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765212844 CA6743598 |
2326 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743600 rs759652491 |
2329 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6743599 rs750411580 |
2329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1593454211 CA386270901 |
2331 | C>S | No |
ClinGen Ensembl |
|
|
CA242410049 rs1001374064 |
2332 | L>R | No |
ClinGen TOPMed |
|
|
rs752872426 CA6743602 |
2334 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6743603 rs756277930 |
2334 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461606141 CA386270946 |
2336 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386270948 rs1461606141 |
2336 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778124444 CA6743604 |
2336 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778124444 CA6743605 |
2336 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386270962 rs1193237067 |
2337 | D>G | No |
ClinGen gnomAD |
|
|
rs1035562508 CA242410097 |
2337 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs369003885 COSM933949 CA6743606 |
2341 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6743608 rs746404453 |
2343 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1593454250 CA386271047 |
2345 | M>T | No |
ClinGen Ensembl |
|
|
rs779515157 CA6743610 |
2348 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242410159 rs1045343901 |
2348 | M>V | No |
ClinGen gnomAD |
|
|
rs746583770 CA6743611 |
2351 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2352 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743612 rs768185494 |
2354 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs905440750 CA242410180 |
2355 | G>C | No |
ClinGen Ensembl |
|
|
rs1230886146 CA386271163 |
2357 | I>V | No |
ClinGen gnomAD |
|
|
CA386271173 rs1264940897 |
2358 | S>G | No |
ClinGen gnomAD |
|
|
CA6743615 rs769744992 COSM415674 |
2360 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1205416221 CA386271233 |
2363 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386271244 rs1332571860 |
2364 | W>G | No |
ClinGen TOPMed |
|
|
rs80165298 CA242410200 |
2366 | F>V | No |
ClinGen Ensembl |
|
|
rs762963021 CA6743617 |
2367 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6743619 rs201064625 |
2368 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA6743618 rs766484215 |
2368 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750012163 CA242410231 |
2370 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 2371 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386271289 rs1430642569 |
2371 | T>P | No |
ClinGen gnomAD |
|
|
CA386271303 rs1157361537 |
2372 | W>C | No |
ClinGen gnomAD |
|
|
CA386271336 rs1565808163 |
2377 | K>R | No |
ClinGen Ensembl |
|
|
rs760622502 COSM1232154 CA6743638 |
2378 | R>C | Variant assessed as Somatic; 0.0003698 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs573079112 CA6743641 |
2378 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs573079112 CA6743640 |
2378 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6743639 rs760622502 |
2378 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370094219 CA386271733 |
2380 | N>T | No |
ClinGen gnomAD |
|
|
rs147856864 CA6743642 |
2381 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758763001 CA6743644 |
2384 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1033522898 CA242410959 |
2386 | L>V | No |
ClinGen Ensembl |
|
|
rs766750923 CA6743645 |
2387 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6743646 rs752142725 |
2390 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs80101191 CA6743647 |
2392 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA386271889 rs1203553747 |
2393 | E>G | No |
ClinGen gnomAD |
|
|
CA386271911 rs780734087 |
2394 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6743649 rs747719423 |
2395 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA386271948 rs1433615981 |
2397 | V>A | No |
ClinGen TOPMed |
|
|
CA386271950 rs1433615981 |
2397 | V>G | No |
ClinGen TOPMed |
|
|
CA6743652 rs376302667 |
2397 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2398 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770779908 CA6743653 |
2402 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2402 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386272024 rs1427921457 |
2403 | L>F | No |
ClinGen gnomAD |
|
|
rs1168176507 CA386272051 |
2405 | T>S | No |
ClinGen gnomAD |
|
|
CA386272075 rs1398625171 |
2409 | V>M | No |
ClinGen TOPMed |
|
|
rs1301989774 CA386272084 |
2410 | I>T | No |
ClinGen gnomAD |
|
|
rs200541979 CA242411035 |
2411 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs200541979 CA386272090 |
2411 | E>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs199846837 CA242411042 |
2413 | E>G | No |
ClinGen 1000Genomes |
|
|
CA242411051 rs967143108 |
2414 | I>T | No |
ClinGen TOPMed |
|
|
CA6743658 rs761945531 |
2418 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs769933960 CA6743659 |
2420 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6743681 rs545303599 |
2423 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386272189 rs1242776766 |
2423 | M>T | No |
ClinGen gnomAD |
|
|
rs1477775640 CA386272200 |
2424 | E>D | No |
ClinGen gnomAD |
|
|
rs773322137 CA6743682 |
2425 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464178766 CA386272227 |
2428 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 2432 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743684 COSM278062 rs771120382 |
2433 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6743685 rs147796377 |
2433 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386272292 rs1387654240 |
2438 | F>V | No |
ClinGen gnomAD |
|
|
CA6743686 rs759824701 |
2440 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768012945 CA6743687 |
2441 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6743688 rs753280046 |
2442 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330714932 CA386272332 |
2444 | K>N | No |
ClinGen gnomAD |
|
|
rs760221379 CA6743689 |
2446 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386272349 rs1156515622 |
2447 | K>R | No |
ClinGen TOPMed |
|
|
CA386272369 rs1407477803 |
2450 | N>H | No |
ClinGen TOPMed gnomAD |
|
| VAR_036275 | 2452 | I>F | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 2453 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763664877 CA6743690 |
2454 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743691 rs370248060 |
2455 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288050832 CA386272410 |
2455 | T>P | No |
ClinGen gnomAD |
|
|
rs375433227 CA242411567 |
2457 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs994190333 CA242411568 |
2458 | A>T | No |
ClinGen TOPMed |
|
|
CA386272522 rs1285283930 |
2465 | W>* | No |
ClinGen gnomAD |
|
|
CA242414051 rs898458244 |
2466 | S>N | No |
ClinGen Ensembl |
|
|
rs377707855 CA6743704 |
2466 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1047284531 CA242414087 |
2467 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143659522 CA6743705 |
2469 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1249790153 CA386273334 |
2474 | H>Q | No |
ClinGen gnomAD |
|
|
rs1223117007 CA386273329 |
2474 | H>Y | No |
ClinGen gnomAD |
|
|
CA6743706 rs147638083 |
2479 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2487 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242414099 rs1001252343 |
2488 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2489 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386273518 rs1424805824 |
2490 | L>F | No |
ClinGen gnomAD |
|
|
CA6743708 rs761241707 |
2493 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs371378555 CA6743709 |
2498 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329897712 CA386273641 |
2499 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA242414106 rs756326544 |
2500 | I>F | No |
ClinGen Ensembl |
|
|
CA386273654 rs1340254085 |
2500 | I>T | No |
ClinGen gnomAD |
|
|
CA6743710 rs776272918 |
2501 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6743711 rs761229316 |
2501 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA242414108 rs780186819 |
2503 | W>G | No |
ClinGen gnomAD |
|
|
CA6743712 rs116332299 |
2504 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA242414119 rs1020137666 |
2505 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1337308543 CA386273742 |
2506 | K>R | No |
ClinGen gnomAD |
|
|
rs955245576 CA386273761 |
2507 | K>N | No |
ClinGen gnomAD |
|
|
CA386273757 rs1171377743 |
2507 | K>R | No |
ClinGen gnomAD |
|
|
rs1593456695 CA386273764 |
2508 | T>P | No |
ClinGen Ensembl |
|
|
CA6743715 rs766142512 |
2510 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386273807 rs1273359798 |
2511 | H>D | No |
ClinGen gnomAD |
|
|
rs1593456703 CA386273811 |
2511 | H>P | No |
ClinGen Ensembl |
|
|
rs1593456711 CA386273829 |
2512 | L>P | No |
ClinGen Ensembl |
|
|
CA242414151 rs987143491 |
2513 | P>L | No |
ClinGen TOPMed |
|
|
rs1593456717 CA386273856 |
2514 | E>D | No |
ClinGen Ensembl |
|
|
rs373837810 CA6743717 |
2514 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383144903 CA386273860 |
2515 | P>S | No |
ClinGen gnomAD |
|
|
rs1320648993 CA386273881 |
2516 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs140552393 CA242414158 |
2517 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140552393 CA6743718 |
2517 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6743719 rs749331612 |
2522 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743721 rs779157503 |
2523 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs974163391 CA242414187 |
2525 | L>F | No |
ClinGen Ensembl |
|
|
CA6743722 rs746045243 |
2527 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs772469775 CA6743723 |
2528 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1188578 rs767396129 CA6743737 |
2529 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1456847915 CA386274138 |
2529 | M>V | No |
ClinGen gnomAD |
|
|
CA386274147 rs1387211827 |
2530 | K>E | No |
ClinGen gnomAD |
|
|
rs1382891635 CA386274158 |
2531 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386274161 rs1323013392 |
2532 | I>L | No |
ClinGen gnomAD |
|
|
CA386274170 rs1344748477 |
2533 | S>A | No |
ClinGen gnomAD |
|
|
CA6743740 rs756115922 |
2535 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756115922 CA6743739 |
2535 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237862346 CA386274195 |
2537 | C>G | No |
ClinGen gnomAD |
|
|
rs1486543004 CA386274229 |
2540 | L>M | No |
ClinGen gnomAD |
|
|
rs750574576 CA6743741 |
2542 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758688020 CA6743742 |
2543 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6743743 rs780424379 |
2545 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2546 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528441378 CA6743745 |
2547 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781693478 CA6743746 |
2547 | Q>P | No |
ClinGen ExAC |
|
|
rs1269828186 CA386274331 |
2550 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6743769 rs751859465 |
2553 | V>F | No |
ClinGen ExAC |
|
|
rs111400774 CA242416742 |
2554 | V>F | No |
ClinGen gnomAD |
|
|
rs755302660 CA6743770 |
2555 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA386274748 rs1456034352 |
2556 | N>D | No |
ClinGen TOPMed |
|
|
rs778766401 CA242416765 |
2557 | L>S | No |
ClinGen Ensembl |
|
|
CA6743771 rs781400772 |
2557 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198811953 CA386274773 |
2558 | L>S | No |
ClinGen TOPMed |
|
|
CA6743773 rs770137347 |
2560 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1461440872 CA386274808 |
2562 | K>E | No |
ClinGen gnomAD |
|
|
rs1336290751 CA386274832 |
2564 | L>S | No |
ClinGen gnomAD |
|
|
CA386274853 rs1306246960 |
2566 | L>S | No |
ClinGen TOPMed |
|
|
rs372360583 CA6743776 |
2568 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577332098 CA6743777 |
2571 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386274884 rs1247582657 |
2571 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759163867 CA6743778 |
2571 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs577332098 CA386274886 |
2571 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386274909 rs1292353017 |
2574 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1222919546 CA386274918 |
2575 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2576 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743779 rs771813928 |
2577 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386274940 rs1565810699 |
2578 | I>K | No |
ClinGen Ensembl |
|
|
CA386274950 rs1481198784 |
2579 | K>N | No |
ClinGen gnomAD |
|
|
CA386274973 rs1203248857 COSM933955 |
2583 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs760523340 CA6743781 |
2586 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM430162 rs200357157 CA6743780 |
2586 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs763876486 CA6743782 |
2587 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763083231 CA6743784 |
2593 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751749567 CA386275051 |
2594 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6743786 rs751749567 |
2594 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386275069 rs1437283349 |
2597 | E>K | No |
ClinGen TOPMed |
|
|
rs969272691 CA242416924 |
2598 | K>N | No |
ClinGen Ensembl |
|
|
rs201781455 CA6743787 |
2599 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1178702326 CA386275095 |
2600 | E>D | No |
ClinGen TOPMed |
|
|
rs773719988 CA242416937 |
2601 | S>P | No |
ClinGen gnomAD |
|
|
CA242416940 CA6743790 rs369203212 |
2602 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375163803 CA6743791 |
2603 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 2604 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386275127 rs1209923636 |
2605 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 2607 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593458399 CA386275156 |
2609 | V>G | No |
ClinGen Ensembl |
|
|
CA386275154 rs1283119641 |
2609 | V>L | No |
ClinGen TOPMed |
|
|
CA6743793 rs1061436 |
2612 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1061436 CA6743792 VAR_022163 |
2612 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1310150445 CA386275185 |
2613 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 2614 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743795 rs148427016 |
2614 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386275200 rs1593458426 |
2616 | P>A | No |
ClinGen Ensembl |
|
|
rs141701848 CA6743796 |
2616 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6743798 rs746728087 |
2617 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA242417017 rs746728087 |
2617 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6743799 rs768524022 |
2618 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241590244 CA386275216 |
2619 | L>P | No |
ClinGen gnomAD |
|
|
CA386275219 rs1379613522 |
2620 | L>V | No |
ClinGen TOPMed |
|
|
CA386275226 rs1348034116 |
2621 | W>* | No |
ClinGen Ensembl |
|
|
CA6743804 rs759679612 |
2625 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1006467136 CA242417067 |
2625 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6743805 rs767586083 |
2626 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253674503 CA386275261 |
2626 | L>V | No |
ClinGen TOPMed |
|
|
CA6743808 rs764421472 |
2628 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743806 COSM278063 rs752995039 |
2628 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs559137147 CA242417089 |
2629 | I>T | No |
ClinGen gnomAD |
|
|
CA6743810 rs757755764 |
2630 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341625463 CA386275284 |
2631 | K>Q | No |
ClinGen gnomAD |
|
|
rs759674615 CA6743811 |
2632 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA242417134 rs1026146122 |
2636 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1565810788 CA386275327 |
2637 | S>L | No |
ClinGen Ensembl |
|
|
CA6743814 rs779529045 |
2638 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768240288 CA6743816 |
2640 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776566190 CA6743817 |
2641 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1488539667 CA386275356 |
2642 | L>S | No |
ClinGen gnomAD |
|
|
rs762178863 CA6743828 |
2646 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1317079186 CA386275403 |
2647 | I>V | No |
ClinGen TOPMed |
|
|
rs765683951 CA386275415 |
2648 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910454283 CA242417355 |
2652 | G>S | No |
ClinGen gnomAD |
|
|
rs779591681 COSM199570 CA6743832 |
2653 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs914254454 CA242417382 |
2654 | V>A | No |
ClinGen TOPMed |
|
|
COSM1270129 rs147838898 CA6743834 |
2654 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781008844 CA6743835 |
2655 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747907268 CA6743836 |
2656 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2659 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200707485 CA6743838 |
2660 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242417412 rs1037554700 |
2660 | I>V | No |
ClinGen Ensembl |
|
|
CA386275496 rs1444625915 |
2661 | D>E | No |
ClinGen gnomAD |
|
|
CA386275506 rs1170048931 |
2663 | V>I | No |
ClinGen TOPMed |
|
|
CA386275508 rs1170048931 |
2663 | V>L | No |
ClinGen TOPMed |
|
|
rs770832540 CA6743840 |
2665 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 2667 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs901629445 CA242417442 |
2667 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 2668 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6743844 rs776859795 |
2669 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743843 rs139767850 |
2669 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1328636180 CA386275561 |
2671 | I>T | No |
ClinGen gnomAD |
|
|
CA6743845 rs577369061 |
2671 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1200114435 CA386275564 |
2672 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1443659312 CA386275570 |
2673 | P>S | No |
ClinGen gnomAD |
|
|
rs1181157603 CA386275581 |
2674 | L>F | No |
ClinGen gnomAD |
|
|
CA6743847 rs750799541 |
2676 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765551216 CA6743846 |
2676 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs763500617 CA6743848 |
2678 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386275605 rs1394760783 |
2678 | L>P | No |
ClinGen gnomAD |
|
|
rs374273784 CA242417496 |
2680 | S>N | No |
ClinGen Ensembl |
|
|
CA386275622 rs1593458700 |
2681 | T>P | No |
ClinGen Ensembl |
|
|
rs1405561915 CA386275631 |
2682 | Y>C | No |
ClinGen gnomAD |
|
|
rs1332501213 CA386275629 |
2682 | Y>H | No |
ClinGen gnomAD |
|
|
rs1341213386 CA386275658 |
2686 | D>N | No |
ClinGen gnomAD |
|
|
rs1220579474 CA386276186 |
2690 | K>* | No |
ClinGen gnomAD |
|
|
CA6743867 rs766861815 |
2690 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386276188 rs766861815 |
2690 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743868 rs774752571 |
2691 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760164413 CA6743869 |
2693 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149907561 CA6743870 |
2695 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386276216 rs1256166008 |
2695 | E>K | No |
ClinGen gnomAD |
|
|
CA6743872 rs755827583 |
2697 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs149982185 CA6743871 |
2697 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386276268 rs1482509013 |
2702 | K>R | No |
ClinGen gnomAD |
|
|
CA6743876 rs778866140 |
2703 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1156828621 CA386276276 |
2704 | V>I | No |
ClinGen gnomAD |
|
|
rs1387236946 CA386276323 |
2710 | S>L | No |
ClinGen gnomAD |
|
|
rs1344606653 CA386276355 |
2714 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 2714 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402834846 CA386276411 |
2717 | Q>H | No |
ClinGen gnomAD |
|
|
rs1269279507 CA386276459 |
2720 | A>V | No |
ClinGen TOPMed |
|
|
rs374626049 CA6743879 |
2722 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374626049 CA6743880 |
2722 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743881 rs770002866 |
2725 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743883 rs182798292 |
2727 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6743884 rs771169465 |
2727 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743882 rs182798292 |
2727 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386276567 rs1291741135 |
2728 | K>Q | No |
ClinGen gnomAD |
|
|
rs774908710 CA6743885 |
2729 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2729 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768208738 CA6743887 |
2732 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386276673 rs1180008829 |
2733 | L>V | No |
ClinGen gnomAD |
|
|
rs1037027870 CA242419076 |
2734 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA242419223 rs975315153 |
2736 | V>A | No |
ClinGen TOPMed |
|
|
CA386276788 rs1240222580 |
2737 | T>I | No |
ClinGen gnomAD |
|
|
rs776670472 CA242419227 |
2738 | N>T | No |
ClinGen Ensembl |
|
|
rs1236812381 CA386276824 |
2739 | P>L | No |
ClinGen TOPMed |
|
|
CA6743894 rs550346514 |
2739 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6743895 rs750276172 |
2740 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA386276897 rs1422369447 |
2744 | K>M | No |
ClinGen gnomAD |
|
|
rs779969473 CA6743897 |
2744 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1166902251 | 2747 | M>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386276932 rs1461328972 |
2747 | M>V | No |
ClinGen gnomAD |
|
|
CA386276962 rs1329084693 |
2749 | K>T | No |
ClinGen gnomAD |
|
|
CA6743899 rs756180074 |
2750 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1447073665 CA386276983 |
2751 | K>Q | No |
ClinGen gnomAD |
|
|
CA386277038 rs1335405859 |
2756 | A>P | No |
ClinGen gnomAD |
|
|
CA6743900 rs777948688 |
2757 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6743901 rs749453497 |
2758 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749453497 CA242419247 |
2758 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231816913 CA386277057 |
2759 | R>K | No |
ClinGen TOPMed |
|
|
rs143303905 CA6743907 |
2762 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324701915 CA386277085 |
2763 | F>L | No |
ClinGen TOPMed |
|
|
CA6743908 rs118052100 |
2765 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6743909 rs746241915 |
2766 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386277110 rs1391070238 |
2767 | G>E | No |
ClinGen TOPMed |
|
|
CA6743910 rs370882773 |
2769 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6743911 rs776160013 |
2769 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA242419293 rs535706848 |
2770 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1175335991 CA386277139 |
2771 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs79372140 CA242419307 |
2773 | Q>K | No |
ClinGen Ensembl |
|
|
rs1449533387 CA386277150 |
2773 | Q>R | No |
ClinGen gnomAD |
|
|
rs1302944672 CA386277190 |
2778 | L>R | No |
ClinGen gnomAD |
|
|
rs1280490446 CA386277198 |
2779 | K>N | No |
ClinGen gnomAD |
|
|
CA386277191 rs1398704705 |
2779 | K>Q | No |
ClinGen gnomAD |
|
|
rs1473726669 CA386277203 |
2780 | D>G | No |
ClinGen TOPMed |
|
|
CA386277216 rs1223114627 |
2782 | A>P | No |
ClinGen gnomAD |
|
|
CA386277218 rs1261541847 |
2782 | A>V | No |
ClinGen gnomAD |
|
|
rs768015734 CA6743913 |
2783 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1402018618 CA386277232 |
2784 | V>G | No |
ClinGen gnomAD |
|
|
CA386277228 rs1370908623 |
2784 | V>M | No |
ClinGen TOPMed |
|
|
CA6743914 rs140645724 |
2785 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with O75691
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| 90S preribosome | A large ribonucleoprotein complex considered to be the earliest preribosomal complex. In S. cerevisiae, it has a size of 90S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| preribosome, small subunit precursor | A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Endonucleolytic cleavage within the 5'-External Transcribed Spacer (ETS) of a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript. Endonucleolytic cleavage within the 5'-ETS of the pre-RNA is conserved as one of the early steps of rRNA processing in all eukaryotes, but the specific position of cleavage is variable. |
| endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Endonucleolytic cleavage between the SSU-rRNA and the 5.8S rRNA of an rRNA molecule originally produced as a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript. |
| endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Endonucleolytic cleavage between the 5'-External Transcribed Spacer (5'-ETS) and the 5' end of the SSU-rRNA of a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript, to produce the mature end of the SSU-rRNA. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P35194 | UTP20 | U3 small nucleolar RNA-associated protein 20 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTKPVSHKT | ENTYRFLTFA | ERLGNVNIDI | IHRIDRTASY | EEEVETYFFE | GLLKWRELNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEHFGKFYKE | VIDKCQSFNQ | LVYHQNEIVQ | SLKTHLQVKN | SFAYQPLLDL | VVQLARDLQM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFYPHFPEFF | LTITSILETQ | DTELLEWAFT | SLSYLYKYLW | RLMVKDMSSI | YSMYSTLLAH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKLHIRNFAA | ESFTFLMRKV | SDKNALFNLM | FLDLDKHPEK | VEGVGQLLFE | MCKGVRNMFH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SCTGQAVKLI | LRKLGPVTET | ETQLPWMLIG | ETLKNMVKST | VSYISKEHFG | TFFECLQESL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDLHTKVTKT | NCCESSEQIK | RLLETYLILV | KHGSGTKIPT | PADVCKVLSQ | TLQVASLSTS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CWETLLDVIS | ALILGENVSL | PETLIKETIE | KIFESRFEKR | LIFSFSEVMF | AMKQFEQLFL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PSFLSYIVNC | FLIDDAVVKD | EALAILAKLI | LNKAAPPTAG | SMAIEKYPLV | FSPQMVGFYI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KQKKTRSKGR | NEQFPVLDHL | LSIIKLPPNK | DTTYLSQSWA | ALVVLPHIRP | LEKEKVIPLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TGFIEALFMT | VDKGSFGKGN | LFVLCQAVNT | LLSLEESSEL | LHLVPVERVK | NLVLTFPLEP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SVLLLTDLYY | QRLALCGCKG | PLSQEALMEL | FPKLQANIST | GVSKIRLLTI | RILNHFDVQL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PESMEDDGLS | ERQSVFAILR | QAELVPATVN | DYREKLLHLR | KLRHDVVQTA | VPDGPLQEVP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LRYLLGMLYI | NFSALWDPVI | ELISSHAHEM | ENKQFWKVYY | EHLEKAATHA | EKELQNDMTD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EKSVGDESWE | QTQEGDVGAL | YHEQLALKTD | CQERLDHTNF | RFLLWRALTK | FPERVEPRSR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ELSPLFLRFI | NNEYYPADLQ | VAPTQDLRRK | GKGMVAEEIE | EEPAAGDDEE | LEEEAVPQDE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SSQKKKTRRA | AAKQLIAHLQ | VFSKFSNPRA | LYLESKLYEL | YLQLLLHQDQ | MVQKITLDCI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MTYKHPHVLP | YRENLQRLLE | DRSFKEEIVH | FSISEDNAVV | KTAHRADLFP | ILMRILYGRM |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KNKTGSKTQG | KSASGTRMAI | VLRFLAGTQP | EEIQIFLDLL | FEPVRHFKNG | ECHSAVIQAV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EDLDLSKVLP | LGRQHGILNS | LEIVLKNISH | LISAYLPKIL | QILLCMTATV | SHILDQREKI |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| QLRFINPLKN | LRRLGIKMVT | DIFLDWESYQ | FRTEEIDAVF | HGAVWPQISR | LGSESQYSPT |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| PLLKLISIWS | RNARYFPLLA | KQKPGHPECD | ILTNVFAILS | AKNLSDATAS | IVMDIVDDLL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NLPDFEPTET | VLNLLVTGCV | YPGIAENIGE | SITIGGRLIL | PHVPAILQYL | SKTTISAEKV |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| KKKKNRAQVS | KELGILSKIS | KFMKDKEQSS | VLITLLLPFL | HRGNIAEDTE | VDILVTVQNL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| LKHCVDPTSF | LKPIAKLFSV | IKNKLSRKLL | CTVFETLSDF | ESGLKYITDV | VKLNAFDQRH |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LDDINFDVRF | ETFQTITSYI | KEMQIVDVNY | LIPVMHNCFY | NLELGDMSLS | DNASMCLMSI |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| IKKLAALNVT | EKDYREIIHR | SLLEKLRKGL | KSQTESIQQD | YTTILSCLIQ | TFPNQLEFKD |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LVQLTHYHDP | EMDFFENMKH | IQIHRRARAL | KKLAKQLMEG | KVVLSSKSLQ | NYIMPYAMTP |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| IFDEKMLKHE | NITTAATEII | GAICKHLSWS | AYMYYLKHFI | HVLQTGQINQ | KLGVSLLVIV |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| LEAFHFDHKT | LEEQMGKIEN | EENAIEAIEL | PEPEAMELER | VDEEEKEYTC | KSLSDNGQPG |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| TPDPADSGGT | SAKESECITK | PVSFLPQNKE | EIERTIKNIQ | GTITGDILPR | LHKCLASTTK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| REEEHKLVKS | KVVNDEEVVR | VPLAFAMVKL | MQSLPQEVME | ANLPSILLKV | CALLKNRAQE |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| IRDIARSTLA | KIIEDLGVHF | LLYVLKELQT | TLVRGYQVHV | LTFTVHMLLQ | GLTNKLQVGD |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| LDSCLDIMIE | IFNHELFGAV | AEEKEVKQIL | SKVMEARRSK | SYDSYEILGK | FVGKDQVTKL |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| ILPLKEILQN | TTSLKLARKV | HETLRRITVG | LIVNQEMTAE | SILLLSYGLI | SENLPLLTEK |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| EKNPVAPAPD | PRLPPQSCLL | LPPTPVRGGQ | KAVVSRKTNM | HIFIESGLRL | LHLSLKTSKI |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| KSSGECVLEM | LDPFVSLLID | CLGSMDVKVI | TGALQCLIWV | LRFPLPSIET | KAEQLTKHLF |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| LLLKDYAKLG | AARGQNFHLV | VNCFKCVTIL | VKKVKSYQIT | EKQLQVLLAY | AEEDIYDTSR |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| QATAFGLLKA | ILSRKLLVPE | IDEVMRKVSK | LAVSAQSEPA | RVQCRQVFLK | YILDYPLGDK |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| LRPNLEFMLA | QLNYEHETGR | ESTLEMIAYL | FDTFPQGLLH | ENCGMFFIPL | CLMTINDDSA |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| TCKKMASMTI | KSLLGKISLE | KKDWLFDMVT | TWFGAKKRLN | RQLAALICGL | FVESEGVDFE |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| KRLGTVLPVI | EKEIDPENFK | DIMEETEEKA | ADRLLFSFLT | LITKLIKECN | IIQFTKPAET |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| LSKIWSHVHS | HLRHPHNWVW | LTAAQIFGLL | FASCQPEELI | QKWNTKKTKK | HLPEPVAIKF |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| LASDLDQKMK | SISLASCHQL | HSKFLDQSLG | EQVVKNLLFA | AKVLYLLELY | CEDKQSKIKE |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| DLEEQEALED | GVACADEKAE | SDGEEKEEVK | EELGRPATLL | WLIQKLSRIA | KLEAAYSPRN |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| PLKRTCIFKF | LGAVAMDLGI | DKVKPYLPMI | IAPLFRELNS | TYSEQDPLLK | NLSQEIIELL |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| KKLVGLESFS | LAFASVQKQA | NEKRALRKKR | KALEFVTNPD | IAAKKKMKKH | KNKSEAKKRK |
| 2770 | 2780 | ||||
| IEFLRPGYKA | KRQKSHSLKD | LAMVE |