Q96S55
PR
Gene name |
WRNIP1 |
Protein name |
ATPase WRNIP1 |
Names |
Werner helicase-interacting protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56897 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q96S55
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3VHS | X-ray | 190 A | A/B | 17-40 | PDB |
| 3VHT | X-ray | 240 A | B | 9-46 | PDB |
| AF-Q96S55-F1 | Predicted | AlphaFoldDB |
785 variants for Q96S55
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs761806004 CA3615939 |
2 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353806587 CA362580084 |
4 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3615942 rs762905769 |
5 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615941 rs773086796 CA362580091 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362580094 rs773086796 |
5 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133428761 rs998243949 |
6 | P>L | No |
ClinGen gnomAD |
|
|
CA362580108 rs998243949 |
6 | P>R | No |
ClinGen gnomAD |
|
|
CA362580106 rs1253622620 |
6 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA133428768 rs962042650 |
7 | E>K | No |
ClinGen TOPMed |
|
|
CA3615947 rs767013102 |
8 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754411621 CA3615946 |
8 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746228836 CA362580184 |
9 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615950 rs757702605 |
9 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615949 COSM1232855 rs757702605 |
9 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3615953 rs780117172 |
10 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758856075 CA3615952 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3615956 rs776806803 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776806803 CA362580231 |
12 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769847161 CA3615958 |
13 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615957 rs146408874 |
13 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213198762 CA362580278 |
14 | Q>H | No |
ClinGen gnomAD |
|
|
rs766232333 CA3615961 |
14 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200233974 CA3615962 |
15 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133428901 rs936504156 |
16 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs767089025 CA362580302 |
16 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1174070097 CA362580304 |
16 | H>Q | No |
ClinGen gnomAD |
|
|
CA3615964 rs767089025 |
16 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA362580308 rs1279053843 |
17 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362580306 rs1279053843 |
17 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3615965 rs752134625 |
17 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA362580362 rs765720889 |
20 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615971 rs780431237 |
24 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758660105 CA3615969 |
24 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387068891 CA362580454 |
25 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs755174054 CA3615972 |
25 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA133428983 rs879224451 |
26 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3615973 rs781572782 |
26 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA3615975 rs770041068 |
27 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3615974 rs748222551 |
27 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs913649122 CA133428987 |
27 | M>L | No |
ClinGen TOPMed |
|
|
CA3615977 rs749206583 |
28 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3615976 rs777817335 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770795423 CA3615978 |
29 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774137853 CA3615979 |
29 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1350621244 CA362580561 |
30 | A>E | No |
ClinGen gnomAD |
|
|
CA362580552 rs1301926504 |
30 | A>T | No |
ClinGen gnomAD |
|
|
CA3615981 rs771750426 |
31 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362580604 rs1391606371 |
32 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763635770 CA3615984 |
34 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs909908647 CA133429089 |
34 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1561902936 CA362580646 |
35 | H>D | No |
ClinGen Ensembl |
|
|
CA133429128 rs899462113 |
38 | R>L | No |
ClinGen TOPMed |
|
|
CA362580710 rs1455485273 |
38 | R>S | No |
ClinGen gnomAD |
|
|
CA133429137 rs879147088 |
42 | L>F | No |
ClinGen Ensembl |
|
|
CA3615991 rs781540327 |
43 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615993 rs753004085 |
44 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs777950082 CA3615994 |
44 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362580804 rs777950082 |
44 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615992 rs753004085 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753004085 CA362580799 |
44 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA133429175 rs749341487 |
45 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs749341487 CA3615995 |
45 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3615996 rs770832912 |
46 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362580826 rs1348971787 |
46 | G>R | No |
ClinGen TOPMed |
|
|
CA3615997 rs778781867 |
47 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3615998 rs745664022 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221751233 CA362580904 |
49 | E>G | No |
ClinGen gnomAD |
|
|
rs1212848185 CA362580924 |
50 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362580921 rs760281660 |
50 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3616001 rs760281660 |
50 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA362580937 rs1280751639 |
51 | A>P | No |
ClinGen TOPMed |
|
|
CA362580947 rs1353542746 |
52 | A>T | No |
ClinGen TOPMed |
|
|
rs768322873 CA3616002 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362580966 rs1468697457 |
53 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA133429232 rs866945952 CA362580964 |
53 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1468697457 CA362580970 |
53 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550876434 CA133429242 |
54 | S>A | No |
ClinGen 1000Genomes |
|
|
rs1163312603 CA362581002 |
55 | H>L | No |
ClinGen gnomAD |
|
|
rs766908618 CA3616005 |
55 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362581016 rs1397129749 |
56 | R>G | No |
ClinGen gnomAD |
|
|
rs1480835697 CA362581025 |
56 | R>H | No |
ClinGen gnomAD |
|
|
rs774766850 CA362581043 COSM1186932 |
57 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3616006 rs774766850 |
57 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331229187 CA362581049 |
57 | A>V | No |
ClinGen gnomAD |
|
|
CA133429271 rs950237141 |
58 | G>R | No |
ClinGen Ensembl |
|
|
CA3616009 rs759911982 |
60 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767949238 CA3616010 |
61 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362581114 rs1209233250 |
62 | K>Q | No |
ClinGen TOPMed |
|
|
rs1373607760 CA362581143 |
63 | G>R | No |
ClinGen gnomAD |
|
|
rs371880929 CA133429276 |
64 | P>S | No |
ClinGen Ensembl |
|
|
rs1232295923 CA362581165 |
65 | S>P | No |
ClinGen gnomAD |
|
|
CA362581174 rs1013584138 |
66 | P>A | No |
ClinGen TOPMed |
|
|
CA362581180 rs1371899199 |
66 | P>L | No |
ClinGen TOPMed |
|
|
CA133429279 rs1013584138 |
66 | P>S | No |
ClinGen TOPMed |
|
|
CA133429283 rs1024949784 |
67 | P>H | No |
ClinGen TOPMed |
|
|
rs1291270943 CA362581186 |
67 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1045418359 CA133429297 |
68 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362581205 rs1272232793 |
69 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362581207 rs1272232793 |
69 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362581234 rs1405828353 |
70 | K>R | No |
ClinGen TOPMed |
|
|
rs1475642532 CA362581245 |
71 | R>K | No |
ClinGen TOPMed |
|
|
CA3616012 rs756346371 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435949804 CA362581256 |
72 | R>W | No |
ClinGen gnomAD |
|
|
CA362581267 rs1233523721 |
73 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA362581282 rs1291484304 |
74 | L>V | No |
ClinGen gnomAD |
|
|
CA362581303 rs1475038973 |
75 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362581296 rs1475038973 |
75 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA133429315 CA133429318 rs937124086 |
77 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3616013 rs764415683 |
78 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420529843 CA362581355 |
78 | S>P | No |
ClinGen gnomAD |
|
|
CA133429322 rs987982890 |
79 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362581367 rs1287089613 |
79 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs987982890 CA133429323 |
79 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362581400 rs1370621519 |
82 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1413839938 CA362581418 |
83 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA133429324 rs943773027 |
84 | A>V | No |
ClinGen TOPMed |
|
|
CA3616014 rs753946599 |
85 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1356922882 CA362581450 |
86 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1356922882 CA362581448 |
86 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1417263438 CA362581447 |
86 | P>S | No |
ClinGen TOPMed |
|
|
rs757337410 CA3616015 |
87 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778888831 CA3616016 |
88 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1219089368 CA362581460 |
88 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778888831 CA362581468 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3616017 rs745835197 |
89 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362581470 rs1294300169 |
89 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745835197 CA3616018 |
89 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746823658 CA3616020 |
90 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746823658 CA362581482 |
90 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362581507 rs1208772625 |
91 | S>N | No |
ClinGen gnomAD |
|
|
CA362581530 rs1231026583 |
92 | S>G | No |
ClinGen TOPMed |
|
|
rs1486087114 CA362581543 |
92 | S>I | No |
ClinGen gnomAD |
|
|
CA3616023 rs747669134 |
93 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs776217068 CA3616022 |
93 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA362581599 rs1168976076 |
94 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1390293092 CA362581636 |
95 | E>D | No |
ClinGen gnomAD |
|
|
rs867170210 CA133429385 |
96 | G>D | No |
ClinGen Ensembl |
|
|
rs888032886 CA133429381 |
96 | G>S | No |
ClinGen TOPMed |
|
|
CA362581682 rs772806579 |
97 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362581686 rs1376902886 |
98 | E>* | No |
ClinGen gnomAD |
|
|
CA362581707 rs901655693 |
98 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362581697 rs1396247152 |
98 | E>G | No |
ClinGen gnomAD |
|
|
rs1432857517 CA362581723 |
99 | G>A | No |
ClinGen gnomAD |
|
|
rs1324449594 CA362581714 |
99 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362581710 rs1324449594 |
99 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs897974251 CA133429390 |
100 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA362581755 rs1194762411 |
101 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA362581746 rs1397279806 |
101 | D>N | No |
ClinGen TOPMed |
|
|
CA362581766 rs1348949053 |
102 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362581820 rs1167345652 |
104 | E>A | No |
ClinGen gnomAD |
|
|
CA3616029 rs768151383 |
104 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1194294778 CA362581850 |
105 | T>I | No |
ClinGen gnomAD |
|
|
rs1582159849 CA362581844 |
105 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133429407 rs889867412 |
110 | S>N | No |
ClinGen TOPMed |
|
|
CA133429413 rs935408510 |
110 | S>R | No |
ClinGen Ensembl |
|
|
CA362582010 rs1013636525 |
113 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA133429416 rs1013636525 |
113 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761186617 CA3616031 |
115 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA133429433 rs1016918489 |
117 | P>L | No |
ClinGen Ensembl |
|
|
CA362582055 rs1402258347 |
117 | P>T | No |
ClinGen gnomAD |
|
|
rs947849563 CA133429445 |
120 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs947849563 CA133429443 |
120 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1331730175 CA362582148 |
122 | L>F | No |
ClinGen gnomAD |
|
|
rs972984733 CA362582178 |
124 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362582189 rs1353053794 |
124 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA133429452 rs972984733 |
124 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs557211562 CA133429461 |
125 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750539831 CA3616036 |
127 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196030665 CA362582234 |
127 | P>S | No |
ClinGen gnomAD |
|
|
CA133429478 CA362582245 rs927505132 |
128 | V>L | No |
ClinGen TOPMed |
|
|
rs758277229 CA3616037 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3616038 rs779975634 |
129 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481880187 CA362582283 |
130 | R>C | No |
ClinGen TOPMed |
|
|
CA3616039 rs746805087 |
130 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133429505 rs914215302 |
131 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs914215302 CA362582305 |
131 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754828394 CA133429510 |
132 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616040 rs754828394 |
132 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362582339 rs1582160183 |
133 | S>R | No |
ClinGen Ensembl |
|
|
rs1327800588 CA362582335 |
133 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362582353 rs1391314707 |
134 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1434555285 CA362582358 |
135 | G>R | No |
ClinGen TOPMed |
|
|
CA362582381 rs1374045481 |
136 | R>K | No |
ClinGen TOPMed |
|
|
rs1304881371 CA362582397 |
137 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1304881371 CA362582405 |
137 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1337826112 CA362582428 |
138 | G>E | No |
ClinGen gnomAD |
|
|
rs1454788554 CA362582420 |
138 | G>R | No |
ClinGen TOPMed |
|
|
rs920997178 CA133429533 |
139 | S>L | No |
ClinGen TOPMed |
|
|
CA362582439 rs920997178 |
139 | S>W | No |
ClinGen TOPMed |
|
|
rs1471387064 CA362582446 |
140 | G>E | No |
ClinGen TOPMed |
|
|
rs112276806 CA133429536 |
142 | R>G | No |
ClinGen Ensembl |
|
|
CA362582467 rs1482524850 |
143 | P>L | No |
ClinGen gnomAD |
|
|
rs932349319 CA133429540 |
143 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362582473 rs1260190406 |
144 | A>V | No |
ClinGen TOPMed |
|
|
rs983796979 CA133429541 |
145 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1337215918 CA362582478 |
145 | A>V | No |
ClinGen TOPMed |
|
|
rs1041596579 CA133429545 |
146 | A>D | No |
ClinGen TOPMed |
|
|
CA362582480 rs1582160350 |
146 | A>P | No |
ClinGen Ensembl |
|
|
CA133429555 rs901768712 |
147 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747712776 CA362582493 |
148 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616042 rs747712776 |
148 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133429560 rs547179008 |
149 | A>V | No |
ClinGen Ensembl |
|
|
CA3616043 rs542599099 |
150 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1050250353 CA133429566 |
150 | G>R | No |
ClinGen TOPMed |
|
|
CA133429572 rs542599099 |
150 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133429586 rs1044893495 |
151 | S>G | No |
ClinGen Ensembl |
|
|
rs1358516974 CA362582505 |
151 | S>N | No |
ClinGen gnomAD |
|
|
rs6917574 CA362582509 |
151 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1017451316 CA362582511 |
152 | A>P | No |
ClinGen TOPMed |
|
|
rs1017451316 CA133429595 |
152 | A>T | No |
ClinGen TOPMed |
|
|
rs1195114908 CA362582514 |
152 | A>V | No |
ClinGen TOPMed |
|
|
CA362582519 rs1338497246 |
153 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1338497246 CA362582520 |
153 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs898454864 CA133429605 |
154 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs898454864 CA133429600 |
154 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362582534 rs994581558 |
156 | S>N | No |
ClinGen TOPMed |
|
|
rs994581558 CA133429608 |
156 | S>T | No |
ClinGen TOPMed |
|
|
CA362582542 rs1354568545 |
157 | W>S | No |
ClinGen TOPMed |
|
|
CA133429618 rs1025634496 CA133429621 |
158 | D>E | No |
ClinGen TOPMed |
|
|
rs1272255610 CA362582550 |
158 | D>V | No |
ClinGen TOPMed |
|
|
CA362582553 rs1247794240 |
159 | E>K | No |
ClinGen gnomAD |
|
|
CA362582566 rs1439250133 |
160 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362582580 rs1182419998 |
162 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA133429633 rs971619046 |
163 | Q>* | No |
ClinGen TOPMed |
|
|
rs1186548427 CA362582585 |
163 | Q>L | No |
ClinGen TOPMed |
|
|
CA362582603 rs1474120185 |
165 | E>D | No |
ClinGen gnomAD |
|
|
rs1368999863 CA362582611 |
166 | E>D | No |
ClinGen gnomAD |
|
|
CA362582605 rs1166764480 |
166 | E>Q | No |
ClinGen gnomAD |
|
|
rs981681990 CA133429653 |
167 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1034466498 CA133429660 |
168 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA133429672 rs1028525390 |
168 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362582625 rs1312534673 |
169 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1312534673 CA362582623 |
169 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3616048 rs772702011 |
170 | G>A | No |
ClinGen ExAC |
|
|
CA133429698 rs772702011 |
170 | G>D | No |
ClinGen ExAC |
|
|
CA362582635 rs1303498677 |
170 | G>R | No |
ClinGen TOPMed |
|
|
CA133429706 rs914310408 |
171 | D>E | No |
ClinGen TOPMed |
|
|
CA133429727 rs909562416 |
175 | D>E | No |
ClinGen TOPMed |
|
|
CA362582698 rs1483731459 |
175 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1249161251 CA362582693 |
175 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1249161251 CA362582695 |
175 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs945698164 CA133429731 |
176 | G>E | No |
ClinGen TOPMed |
|
|
rs1464774183 CA362582705 |
177 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1464774183 CA362582708 |
177 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1582160842 CA362582734 |
178 | A>V | No |
ClinGen Ensembl |
|
|
rs933208253 CA133429766 |
179 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 179 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362582759 rs1484452074 |
181 | D>Y | No |
ClinGen gnomAD |
|
|
CA133429772 rs1046554565 |
182 | G>S | No |
ClinGen TOPMed |
|
|
rs1364832419 CA362582777 |
183 | E>K | No |
ClinGen TOPMed |
|
|
CA3616050 rs559266685 |
184 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761098525 CA362582819 |
185 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA362582822 rs1442450424 |
186 | P>S | No |
ClinGen TOPMed |
|
|
rs768943713 CA362582842 |
187 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768943713 CA3616052 |
187 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1374687504 CA362582845 |
188 | H>N | No |
ClinGen gnomAD |
|
|
CA3616055 rs765510820 |
190 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3616054 rs761893187 |
190 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA362582898 rs761893187 |
190 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1168011929 CA362582926 |
191 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362582927 rs1168011929 |
191 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750439866 CA3616056 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362582938 rs1303847594 |
192 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362582931 rs1423804702 |
192 | D>N | No |
ClinGen gnomAD |
|
|
CA362582956 rs1381059195 |
193 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362582950 rs1381059195 |
193 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763090032 CA3616057 |
193 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616058 rs766293964 |
194 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751534920 CA3616059 |
195 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754937498 CA3616060 |
195 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1345370093 CA362583001 |
196 | A>T | No |
ClinGen gnomAD |
|
|
CA362583025 rs1256411544 |
197 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362583021 rs1256411544 |
197 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362583051 rs1485440599 |
198 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362583062 rs755655353 |
199 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616062 rs752546950 |
199 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755655353 CA3616063 |
199 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193157455 CA362583078 |
200 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3616064 rs777548809 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436868626 CA362583101 |
202 | A>T | No |
ClinGen gnomAD |
|
|
rs8333 CA362583152 |
203 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA362583177 rs1452107848 |
204 | G>V | No |
ClinGen gnomAD |
|
|
rs770612661 CA3616070 |
205 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1440803376 CA362583202 |
206 | G>C | No |
ClinGen gnomAD |
|
|
rs1302123172 CA362583209 |
206 | G>D | No |
ClinGen gnomAD |
|
|
rs1440803376 CA362583200 |
206 | G>S | No |
ClinGen gnomAD |
|
|
rs776804226 CA3616074 |
207 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA133429905 rs901083067 |
207 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362583237 rs901083067 |
207 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362583234 rs901083067 |
207 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362583249 rs1213394184 |
208 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362583247 rs1213394184 |
208 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3616075 rs530701080 |
208 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs941986387 CA133429918 |
209 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362583253 rs1269784235 |
209 | H>Y | No |
ClinGen gnomAD |
|
|
CA133429925 rs544562879 |
210 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3616078 rs544562879 |
210 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1047032263 CA133429923 |
210 | P>S | No |
ClinGen gnomAD |
|
|
CA362583284 rs1047032263 |
210 | P>T | No |
ClinGen gnomAD |
|
|
CA362583302 rs1407545383 |
211 | R>P | No |
ClinGen gnomAD |
|
|
rs1407545383 CA362583299 |
211 | R>Q | No |
ClinGen gnomAD |
|
|
CA3616079 rs529903066 |
211 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751656174 CA3616083 |
214 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs370507346 CA3616084 |
214 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438007426 CA362583371 |
215 | A>V | No |
ClinGen gnomAD |
|
|
rs1286719689 CA362583387 |
216 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752428277 CA3616086 |
216 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3616087 rs755992922 |
217 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1003049668 CA133429997 |
219 | R>L | No |
ClinGen TOPMed |
|
|
rs1003049668 CA362583431 |
219 | R>P | No |
ClinGen TOPMed |
|
|
rs1034584388 CA133430001 |
220 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777545261 CA3616088 |
221 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs777545261 CA362583945 |
221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs753584018 CA3616089 |
222 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616092 rs778517320 |
223 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616094 rs781757916 |
223 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616091 rs778517320 |
223 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616093 rs755375452 |
223 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748452904 CA3616095 |
224 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462131512 CA362583959 |
224 | G>S | No |
ClinGen TOPMed |
|
|
rs749458869 CA3616098 |
226 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565906761 CA3616101 |
226 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565906761 CA362583972 |
226 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565906761 CA3616100 |
226 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3616099 rs749458869 |
226 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767342526 CA3616103 |
227 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616104 rs767342526 |
227 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616105 rs763943276 |
228 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753709501 CA3616106 |
228 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616108 rs764987921 |
229 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749900227 CA3616109 |
230 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3616110 rs757986525 |
230 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227551274 CA362583997 |
231 | M>I | No |
ClinGen TOPMed |
|
|
rs1305870473 CA362583995 |
231 | M>T | No |
ClinGen gnomAD |
|
|
CA362583992 rs1273478229 |
231 | M>V | No |
ClinGen TOPMed |
|
|
CA3616113 rs756597078 |
232 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441805965 CA362584007 |
233 | P>S | No |
ClinGen TOPMed |
|
|
rs778049701 CA3616114 |
234 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1186337916 CA362584024 |
235 | T>A | No |
ClinGen gnomAD |
|
|
CA3616116 rs148910619 |
235 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362584071 rs1168404301 |
238 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370770188 CA3616118 |
240 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362584135 rs1427282580 |
241 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362584141 rs1427282580 |
241 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1370790096 CA362584160 |
242 | Q>* | No |
ClinGen gnomAD |
|
|
rs775462484 CA3616120 |
242 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760613224 CA3616121 |
243 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764139984 CA362584185 |
243 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764139984 CA3616122 |
243 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362584191 rs199556155 |
243 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362584175 rs760613224 |
243 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776504300 CA3616123 |
244 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362584238 rs1359709967 |
245 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362584241 rs1359709967 |
245 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1393340142 CA362584258 |
246 | V>A | No |
ClinGen TOPMed |
|
|
CA3616126 rs750142266 |
246 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA362584278 rs1374382358 |
247 | G>A | No |
ClinGen TOPMed |
|
|
rs1208978154 CA362584290 |
248 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1208978154 CA362584302 |
248 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765861780 CA3616128 |
249 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1443382363 CA362584372 |
250 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754187773 CA3616132 |
251 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3616131 rs756544262 |
251 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616136 rs71552136 |
253 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3616137 rs71552136 |
253 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142432834 CA133430195 |
253 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3616138 rs142432834 |
253 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142432834 CA3616139 |
253 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362584450 rs1414839298 |
254 | S>P | No |
ClinGen gnomAD |
|
|
rs761681212 CA362584478 |
255 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769755223 CA362584483 |
255 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616142 rs769755223 |
255 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761681212 CA3616141 |
255 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133430215 rs1016718671 |
256 | L>R | No |
ClinGen TOPMed |
|
|
rs1276848083 CA362584570 |
258 | T>N | No |
ClinGen gnomAD |
|
|
rs1204924113 CA362584579 |
259 | N>D | No |
ClinGen gnomAD |
|
|
CA362584593 rs751073611 |
259 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047146151 CA133430225 |
259 | N>S | No |
ClinGen gnomAD |
|
|
CA3616147 rs759102231 |
261 | I>S | No |
ClinGen ExAC |
|
|
rs757792535 CA3616150 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757792535 CA362584674 |
262 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs754380365 CA3616149 |
262 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758580088 CA362584715 |
264 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157837194 CA362584720 |
264 | L>P | No |
ClinGen gnomAD |
|
|
rs758580088 CA3616153 |
264 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616154 rs141424762 |
265 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362584780 rs1393582572 |
267 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362584786 rs1393582572 |
267 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362584833 rs1385174675 |
269 | P>L | No |
ClinGen gnomAD |
|
|
rs772989548 CA362584849 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616160 rs772989548 |
270 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362584846 rs1561905915 |
270 | P>S | No |
ClinGen Ensembl |
|
|
CA3616162 rs770601643 |
274 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3616197 rs757239854 |
276 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs778621838 CA362586193 |
277 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362586232 rs1482171489 |
279 | H>D | No |
ClinGen gnomAD |
|
|
rs1395909072 CA362586237 |
279 | H>L | No |
ClinGen gnomAD |
|
|
rs745667255 CA3616199 |
280 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427844084 CA362586270 |
281 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775182948 CA3616201 |
281 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1427844084 CA362586268 |
281 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370837904 CA3616202 |
282 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362586330 rs1385426786 CA362586332 |
284 | N>K | No |
ClinGen TOPMed |
|
|
rs1471675206 CA362586348 |
285 | S>I | No |
ClinGen TOPMed |
|
|
rs952771634 CA133431619 |
285 | S>R | No |
ClinGen Ensembl |
|
|
rs768093594 CA3616203 |
286 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133431635 rs975102755 |
288 | H>D | No |
ClinGen TOPMed |
|
|
CA3616204 rs77289107 RCV000950141 |
288 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767010710 CA362586449 |
290 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs763323331 CA3616205 |
290 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133431655 rs908406397 |
291 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362586458 rs908406397 |
291 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774847441 CA3616207 |
293 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA362586525 rs1224731577 |
295 | L>F | No |
ClinGen TOPMed |
|
|
CA362586520 rs1294832293 |
295 | L>S | No |
ClinGen gnomAD |
|
|
rs1048883104 CA362586539 |
296 | S>C | No |
ClinGen TOPMed |
|
|
rs1048883104 CA133431664 |
296 | S>F | No |
ClinGen TOPMed |
|
|
rs760033134 CA3616208 |
298 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767822139 CA3616209 |
299 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs907688956 CA133431668 |
300 | A>T | No |
ClinGen TOPMed |
|
|
CA362586608 rs1561908596 |
301 | K>E | No |
ClinGen Ensembl |
|
|
CA3616210 rs753005885 |
303 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1310009113 CA362586651 |
303 | N>I | No |
ClinGen gnomAD |
|
|
CA362586649 rs1310009113 |
303 | N>S | No |
ClinGen gnomAD |
|
|
rs1464425306 CA362586669 |
304 | D>G | No |
ClinGen gnomAD |
|
|
rs1256354331 CA362586659 |
304 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133431680 COSM1545708 rs373929786 |
306 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs764029913 CA3616212 |
307 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3616214 rs757074855 |
312 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA362586803 rs1399792053 |
313 | Q>E | No |
ClinGen TOPMed |
|
|
rs778889535 CA3616215 |
315 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758240135 CA3616218 |
317 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389957991 CA362587043 |
323 | T>A | No |
ClinGen gnomAD |
|
|
CA362587079 rs780514593 |
324 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133431713 rs569853784 |
324 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs780514593 CA3616222 |
324 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171054864 CA362587248 |
330 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 331 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3616225 rs149650872 |
334 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133431731 rs1044704986 |
336 | S>F | No |
ClinGen TOPMed |
|
|
CA362587776 rs1172657459 |
340 | T>P | No |
ClinGen gnomAD |
|
|
CA3616256 rs765262582 |
341 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs556600992 CA3616258 |
343 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773305070 CA3616257 COSM3829877 |
343 | P>S | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3616259 rs766348656 |
344 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616260 rs576609360 COSM1076950 |
345 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 346 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133432437 rs536041056 |
349 | T>A | No |
ClinGen 1000Genomes |
|
|
rs767042367 CA3616262 |
349 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208384220 CA362588035 |
351 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755850879 CA362588046 |
351 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1208384220 CA362588032 |
351 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3616264 rs755850879 |
351 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3616266 rs748811112 |
353 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362588068 rs1247459314 |
353 | I>V | No |
ClinGen TOPMed |
|
|
rs1413593506 CA362588127 |
356 | T>A | No |
ClinGen TOPMed |
|
|
rs1582170605 CA362588191 |
359 | N>T | No |
ClinGen Ensembl |
|
|
CA362588300 rs1373140898 |
363 | Q>* | No |
ClinGen TOPMed |
|
|
rs758968923 CA3616267 |
364 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1447328767 CA362588345 |
365 | N>D | No |
ClinGen gnomAD |
|
|
CA3616268 rs780668658 |
365 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA133432452 rs371970393 |
365 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3616269 rs555631669 |
366 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776892821 CA3616271 |
367 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA362588406 rs1297010919 |
369 | L>M | No |
ClinGen gnomAD |
|
|
CA3616272 rs748327754 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616273 rs770005432 |
371 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA362588469 rs1298621992 |
372 | C>S | No |
ClinGen gnomAD |
|
|
rs763073963 CA362588494 |
373 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763073963 CA3616275 |
373 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616276 rs766200481 |
373 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144020288 CA3616277 |
375 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362588560 rs1282447707 |
376 | V>L | No |
ClinGen TOPMed |
|
|
CA362588673 rs1189874564 |
379 | K>T | No |
ClinGen gnomAD |
|
|
rs752546393 CA3616280 |
381 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3616281 rs752546393 |
381 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3616283 rs369438854 |
382 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919408308 CA133432498 |
383 | E>K | No |
ClinGen TOPMed |
|
|
CA362588818 rs1554137395 |
384 | A>V | No |
ClinGen Ensembl |
|
|
rs1582170832 CA362588848 |
385 | M>I | No |
ClinGen Ensembl |
|
|
rs373529282 CA362588827 |
385 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470086796 CA362588833 |
385 | M>T | No |
ClinGen gnomAD |
|
|
CA3616284 rs373529282 |
385 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362588854 rs1279479892 |
386 | V>M | No |
ClinGen TOPMed |
|
|
CA3616285 rs145974526 |
387 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747499632 CA3616286 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3616288 rs369067440 |
391 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3616289 rs373026289 |
391 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133432520 rs764102921 |
392 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs764102921 CA3616290 |
392 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA362589027 rs1346193401 |
394 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs749352305 CA3616292 |
394 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs773485561 CA3616291 |
394 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362589053 rs1331754320 |
395 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3616293 rs770998177 |
396 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA362589072 rs1582170953 |
397 | G>E | No |
ClinGen Ensembl |
|
|
CA362589070 rs1450722370 |
397 | G>R | No |
ClinGen gnomAD |
|
|
CA3616294 rs142050148 |
400 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142050148 CA3616295 |
400 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771917887 CA3616296 |
402 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760613951 CA133432551 |
403 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760613951 CA3616298 |
403 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760613951 CA362589183 |
403 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362589192 rs1159273298 |
403 | S>Y | No |
ClinGen gnomAD |
|
|
CA362589211 rs1390071478 |
404 | S>G | No |
ClinGen gnomAD |
|
|
COSM1076952 CA3616299 rs151152469 |
405 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753592430 CA3616300 |
406 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 406 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362589280 rs1346326941 |
407 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362589283 rs1346326941 |
407 | T>S | No |
ClinGen gnomAD |
|
|
CA133432569 rs1042633434 |
408 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3616301 rs761392790 |
409 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA133432573 rs761392790 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA362589351 rs761392790 |
409 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA362589337 rs1409605000 |
409 | P>S | No |
ClinGen gnomAD |
|
|
rs1240349128 CA362589358 |
410 | L>V | No |
ClinGen gnomAD |
|
|
rs1262672664 CA362589374 |
411 | S>C | No |
ClinGen gnomAD |
|
|
rs200589959 CA3616302 |
413 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 413 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749904138 CA3616304 |
414 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749904138 CA3616303 |
414 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616305 rs140389295 |
415 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140389295 CA362589455 |
415 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360727791 CA362589480 |
417 | S>I | No |
ClinGen TOPMed |
|
|
rs1291580429 CA362589497 |
418 | S>L | No |
ClinGen gnomAD |
|
|
rs200906298 CA133432587 |
418 | S>P | No |
ClinGen Ensembl |
|
|
CA362589509 rs1561910266 |
419 | E>G | No |
ClinGen Ensembl |
|
|
rs1181254487 CA362589501 |
419 | E>K | No |
ClinGen gnomAD |
|
|
rs779072125 CA3616330 |
420 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs370742391 CA3616333 |
421 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370742391 CA133385154 |
421 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3616334 rs147603247 |
421 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3616336 rs374688284 CA362568258 |
422 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1470137358 CA362568256 |
422 | M>T | No |
ClinGen TOPMed |
|
|
rs768717293 CA3616335 |
422 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA362568268 rs1338177807 |
424 | I>L | No |
ClinGen gnomAD |
|
|
CA3616337 rs747948132 |
424 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561914924 CA362568278 |
425 | E>G | No |
ClinGen Ensembl |
|
|
CA3616339 rs772775287 |
428 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1672201 CA3616340 rs762693520 |
429 | V>A | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1561914940 CA362568312 |
430 | D>G | No |
ClinGen Ensembl |
|
|
rs1581140966 CA362568308 |
430 | D>N | No |
ClinGen Ensembl |
|
|
CA133385209 rs984425268 |
434 | Y>C | No |
ClinGen TOPMed |
|
|
rs764644328 CA3616344 |
434 | Y>H | No |
ClinGen ExAC |
|
|
rs896168282 CA133385210 |
437 | D>V | No |
ClinGen Ensembl |
|
|
CA133385242 rs867029038 COSM1288974 |
438 | G>S | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1464511009 CA362568366 |
439 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3616346 rs757603585 |
440 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 441 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362568387 rs1376248497 |
442 | A>G | No |
ClinGen gnomAD |
|
|
CA3616347 rs765475984 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376248497 CA362568386 |
442 | A>V | No |
ClinGen gnomAD |
|
|
CA362568391 rs1332622678 |
443 | G>E | No |
ClinGen TOPMed |
|
|
CA3616348 rs750561664 |
445 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA133385293 COSM1076963 rs780215190 CA3616350 |
446 | G>R | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1581141041 CA362568438 |
451 | V>G | No |
ClinGen Ensembl |
|
|
CA3616353 rs371002200 CA3616352 |
451 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371002200 CA3616354 |
451 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362568440 rs1261532235 |
452 | L>V | No |
ClinGen gnomAD |
|
|
rs1561915008 CA362568447 |
453 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 454 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581141051 CA362568458 |
455 | L>V | No |
ClinGen Ensembl |
|
|
rs139558660 CA3616357 |
456 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3616356 rs139558660 |
456 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362568469 rs1300382464 |
456 | S>R | No |
ClinGen gnomAD |
|
|
CA362568474 rs1310239263 |
457 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1310239263 CA362568475 |
457 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3616358 rs770586670 |
458 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756199418 CA3616359 |
460 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3616361 rs764554195 |
463 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265476432 CA362568545 |
467 | Q>* | No |
ClinGen gnomAD |
|
|
rs1431787390 CA362568556 |
468 | S>F | No |
ClinGen TOPMed |
|
|
rs1177523302 CA362568561 |
469 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1177523302 CA362568562 |
469 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3616362 rs552241646 |
470 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3616363 rs762403612 |
471 | P>T | No |
ClinGen ExAC |
|
|
CA362568577 rs1182152203 |
472 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1182152203 CA362568576 |
472 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1156380809 CA362568597 |
475 | L>V | No |
ClinGen gnomAD |
|
|
rs367565393 CA3616364 |
478 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362568627 rs1450691122 |
479 | N>K | No |
ClinGen Ensembl |
|
|
rs750803083 CA3616365 |
479 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3616367 rs758634684 |
480 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616368 rs201002633 |
481 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3616370 rs781163706 |
483 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3616369 rs755145067 |
483 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133385466 rs200555999 |
486 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs199966810 CA133385476 |
487 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756086080 CA3616372 |
487 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362568678 rs777375350 |
488 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777375350 CA3616373 |
488 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616375 rs770567993 |
489 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs148963584 CA3616376 |
490 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771435301 CA362568699 |
491 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA362568704 rs1423554228 |
492 | Y>C | No |
ClinGen gnomAD |
|
|
CA362568701 rs1471920385 |
492 | Y>H | No |
ClinGen gnomAD |
|
|
rs568029586 CA133385535 |
494 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762159289 CA3616380 |
494 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616379 rs568029586 |
494 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3616383 rs114897024 |
495 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3616382 rs114897024 |
495 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766674520 CA3616384 |
495 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1183599177 CA362568740 |
496 | G>D | No |
ClinGen gnomAD |
|
|
rs751875576 CA3616385 |
496 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757218155 CA3616409 |
499 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247104563 CA362568761 |
499 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481874136 CA362568770 |
500 | Y>C | No |
ClinGen gnomAD |
|
|
CA3616410 rs778611720 |
501 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362568785 rs1384960073 |
502 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA362568781 rs887734232 |
502 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs887734232 CA133390106 |
502 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3616411 rs373348422 |
503 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362568801 rs746468151 |
505 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746468151 CA3616414 |
505 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362568804 rs1319954591 |
505 | A>V | No |
ClinGen gnomAD |
|
|
rs536393691 CA362568812 |
507 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 507 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3616417 rs536393691 |
507 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780867764 CA3616416 |
507 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133390146 rs368915696 |
509 | S>A | No |
ClinGen ESP TOPMed |
|
|
rs1344773937 CA362568827 |
509 | S>C | No |
ClinGen gnomAD |
|
|
CA362568835 rs1324886621 |
510 | M>I | No |
ClinGen gnomAD |
|
|
CA133390154 rs1014763118 |
510 | M>T | No |
ClinGen gnomAD |
|
|
CA362568839 rs774847287 |
511 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774847287 CA3616419 |
511 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616418 rs200240242 |
511 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA362568847 rs1168648752 |
513 | S>P | No |
ClinGen TOPMed |
|
|
CA133390185 rs1014325974 |
515 | Q>H | No |
ClinGen gnomAD |
|
|
CA362568863 rs1317514337 |
515 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1214077705 CA362568868 |
516 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760831955 CA3616423 COSM1076977 |
517 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1309816804 CA362568882 |
518 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs868635669 CA133390191 |
518 | S>Y | No |
ClinGen Ensembl |
|
|
rs1470233683 CA362568908 |
522 | L>M | No |
ClinGen gnomAD |
|
|
CA3616425 rs776695542 |
523 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761679945 CA3616426 |
524 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761679945 CA133390212 |
524 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765215300 CA3616427 |
524 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761679945 CA362568919 |
524 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403560714 CA362568926 |
525 | M>T | No |
ClinGen gnomAD |
|
|
rs1228286767 CA362568942 |
527 | E>D | No |
ClinGen gnomAD |
|
|
CA362568940 rs1411128154 |
527 | E>G | No |
ClinGen gnomAD |
|
|
CA3616431 rs375911501 |
527 | E>K | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3616433 rs780794326 |
528 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616432 rs754614336 |
528 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529434617 CA133390253 |
531 | D>N | No |
ClinGen Ensembl |
|
|
CA133390262 rs944900259 |
532 | P>L | No |
ClinGen gnomAD |
|
|
rs944900259 CA362568973 |
532 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 533 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3616435 rs757837949 |
534 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1450669428 CA362568980 |
534 | Y>N | No |
ClinGen gnomAD |
|
|
CA362568983 rs757837949 |
534 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA3616437 rs565449786 |
535 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201034943 CA3616439 |
537 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs145167237 CA3616438 |
537 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747188543 CA3616440 |
538 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768879172 CA3616441 |
538 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362569022 rs1581144424 |
541 | R>M | No |
ClinGen Ensembl |
|
|
CA362569023 rs1305382400 |
541 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362569029 rs1201968485 |
542 | F>C | No |
ClinGen TOPMed |
|
|
rs1366621416 CA362569033 |
543 | A>T | No |
ClinGen gnomAD |
|
|
rs984333270 CA133390321 |
544 | S>G | No |
ClinGen TOPMed |
|
|
COSM84956 CA3616445 rs138932547 |
545 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3616444 rs138932547 |
545 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766154039 CA3616447 |
546 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616446 rs762819100 |
546 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362569059 rs1219831510 |
547 | I>V | No |
ClinGen gnomAD |
|
|
rs749465880 CA362569083 |
549 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616480 rs749465880 |
549 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449918271 CA362569089 |
550 | A>S | No |
ClinGen gnomAD |
|
|
CA3616483 rs770873510 |
552 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749398278 CA3616482 |
552 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1366472355 CA362569107 |
553 | S>A | No |
ClinGen TOPMed |
|
|
CA362569116 rs1309062597 |
554 | A>V | No |
ClinGen gnomAD |
|
|
rs775430266 CA3616487 |
556 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3616488 rs760348104 |
558 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362569153 rs1561918502 |
560 | A>V | No |
ClinGen Ensembl |
|
|
rs776199684 CA3616490 |
561 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 561 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362569169 rs1432611811 |
563 | Q>E | No |
ClinGen TOPMed |
|
|
CA362569171 rs1429486043 |
563 | Q>R | No |
ClinGen gnomAD |
|
|
CA133391323 rs541218767 |
565 | C>R | No |
ClinGen Ensembl |
|
|
CA3616493 rs752010954 |
566 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766886449 CA3616492 |
566 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA133391343 rs907427574 |
568 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1452373090 CA362569211 |
569 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 570 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362569214 rs1284454070 |
570 | M>L | No |
ClinGen gnomAD |
|
|
CA362569232 rs1286773549 |
572 | E>A | No |
ClinGen gnomAD |
|
|
CA362569233 rs1286773549 |
572 | E>G | No |
ClinGen gnomAD |
|
|
CA133391359 rs879047467 |
573 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1581146079 CA362569269 |
575 | V>G | No |
ClinGen Ensembl |
|
|
CA362569297 rs1374177886 |
580 | C>R | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1451932196 CA362569310 |
582 | V>I | No |
ClinGen gnomAD |
|
|
rs200618121 CA3616526 |
583 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3616525 rs200618121 |
583 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 585 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321566938 CA362569347 |
587 | A>V | No |
ClinGen TOPMed |
|
|
rs1231324684 CA362569356 |
589 | K>E | No |
ClinGen TOPMed |
|
|
rs1366501422 CA362569387 |
593 | V>E | No |
ClinGen TOPMed |
|
|
rs561958922 CA3616529 |
594 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3616528 rs772692877 |
594 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761279595 CA3616532 |
596 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1359441223 CA362569407 |
596 | A>V | No |
ClinGen TOPMed |
|
|
CA362569418 rs1457822732 |
598 | N>D | No |
ClinGen gnomAD |
|
|
rs35894466 CA3616533 |
598 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3616535 rs148404468 CA362569430 |
599 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375256056 CA362569431 |
600 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375256056 CA3616536 |
600 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362569440 rs1390641289 |
601 | K>R | No |
ClinGen TOPMed |
|
|
rs750497757 CA3616537 |
602 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1418565320 CA362569454 |
603 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 605 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200097218 CA133391915 |
606 | N>D | No |
ClinGen 1000Genomes |
|
|
CA362569472 rs1406827698 |
606 | N>S | No |
ClinGen gnomAD |
|
|
CA362569502 rs751411360 |
610 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3616540 rs751411360 |
610 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362569506 rs1207697586 |
611 | L>P | No |
ClinGen TOPMed |
|
|
rs780788594 CA3616542 |
612 | P>T | No |
ClinGen ExAC |
|
|
rs140666043 CA133391923 |
613 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3616545 rs551510501 |
613 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs140666043 CA3616544 |
613 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs140666043 CA362569513 |
613 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140635969 CA3616547 |
614 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1334777007 | 614 | V>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3616548 rs372821009 |
615 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362569523 rs1274400269 |
615 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362569521 rs1274400269 |
615 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1202538902 CA362569529 |
616 | L>P | No |
ClinGen gnomAD |
|
|
rs1462235643 CA362569547 |
619 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362569545 rs1301071404 |
619 | R>W | No |
ClinGen TOPMed |
|
|
CA362569556 rs1187842395 |
620 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1232854 rs369024379 CA3616551 |
621 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371276804 CA3616552 |
621 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362569569 rs1561919169 |
623 | T>P | No |
ClinGen Ensembl |
|
|
CA133392019 rs919277646 |
626 | M>L | No |
ClinGen Ensembl |
|
|
CA133392020 rs1003756126 |
626 | M>T | No |
ClinGen TOPMed |
|
|
CA3616555 rs750622426 |
628 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1317911492 CA362569619 |
630 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1561919190 CA362569626 |
631 | Y>C | No |
ClinGen Ensembl |
|
|
CA3616557 rs766496385 |
634 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs374673882 CA362569656 |
635 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362569653 rs1271113746 |
635 | Y>C | No |
ClinGen gnomAD |
|
|
CA362569671 rs1203684685 |
637 | Y>* | No |
ClinGen TOPMed |
|
|
rs1222253998 CA362569668 |
637 | Y>S | No |
ClinGen gnomAD |
|
|
CA3616560 rs552633454 |
638 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362569676 rs552633454 |
638 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3616561 rs369526890 |
639 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362569685 rs1217743931 |
640 | M>V | No |
ClinGen gnomAD |
|
|
rs1021962756 CA133392092 |
641 | Y>C | No |
ClinGen TOPMed |
|
|
CA362569701 rs1263593691 |
642 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749924838 CA133392100 |
643 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362569709 rs1197202931 |
643 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362569721 rs1478432923 |
644 | P>L | No |
ClinGen gnomAD |
|
|
rs1440049771 CA362569718 |
644 | P>S | No |
ClinGen gnomAD |
|
|
rs1158051441 CA362569722 |
645 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs770584399 CA3616566 |
647 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3616567 rs778274863 |
650 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3616569 rs769015090 |
651 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA133392162 rs201935505 |
654 | L>F | No |
ClinGen 1000Genomes |
|
|
CA3616572 rs748686446 |
655 | R>G | No |
ClinGen ExAC TOPMed |
|
|
CA362569792 rs770242729 |
655 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3616575 rs377707401 |
655 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3616573 rs770242729 |
655 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748686446 CA362569790 |
655 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA3616576 CA3616577 rs151205770 |
656 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759698310 CA133392200 |
657 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362569798 rs759698310 CA3616578 |
657 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362569810 rs1482682033 |
659 | F>I | No |
ClinGen TOPMed |
|
|
rs767518585 CA362569824 CA3616579 |
660 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs370863201 CA3616581 CA133392219 |
662 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362569842 rs1210265500 |
663 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 663 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568496810 CA3616583 |
666 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q96S55
6 regional properties for Q96S55
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AAA+ ATPase domain | 260 - 380 | IPR003593 |
| domain | ATPase, AAA-type, core | 264 - 376 | IPR003959 |
| domain | Rad18, zinc finger UBZ4-type | 17 - 44 | IPR006642 |
| domain | MgsA AAA+ ATPase C-terminal | 512 - 662 | IPR021886 |
| domain | AAA C-terminal domain | 422 - 511 | IPR032423 |
| domain | WRNIP1, ubiquitin-binding domain | 16 - 36 | IPR040539 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| single-stranded DNA helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, in the presence of single-stranded DNA; drives the unwinding of a DNA helix. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA synthesis involved in DNA repair | Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template. |
| DNA-templated DNA replication | A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| regulation of DNA repair | Any process that modulates the frequency, rate or extent of DNA repair. |
| regulation of DNA-templated DNA replication initiation | Any process that modulates the frequency, rate or extent of initiation of DNA-dependent DNA replication; the process in which DNA becomes competent to replicate. In eukaryotes, replication competence is established in early G1 and lost during the ensuing S phase. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q91XU0 | Wrnip1 | ATPase WRNIP1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVSGPEDDP | FLSQLHQVQC | PVCQQMMPAA | HINSHLDRCL | LLHPAGHAEP | AAGSHRAGER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AKGPSPPGAK | RRRLSESSAL | KQPATPTAAE | SSEGEGEEGD | DGGETESRES | YDAPPTPSGA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLIPDFPVAR | SSSPGRKGSG | KRPAAAAAAG | SASPRSWDEA | EAQEEEEAVG | DGDGDGDADA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGEDDPGHWD | ADAAEAATAF | GASGGGRPHP | RALAAEEIRQ | MLQGKPLADT | MRPDTLQDYF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQSKAVGQDT | LLRSLLETNE | IPSLILWGPP | GCGKTTLAHI | IASNSKKHSI | RFVTLSATNA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KTNDVRDVIK | QAQNEKSFFK | RKTILFIDEI | HRFNKSQQDT | FLPHVECGTI | TLIGATTENP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SFQVNAALLS | RCRVIVLEKL | PVEAMVTILM | RAINSLGIHV | LDSSRPTDPL | SHSSNSSSEP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AMFIEDKAVD | TLAYLSDGDA | RAGLNGLQLA | VLARLSSRKM | FCKKSGQSYS | PSRVLITEND |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VKEGLQRSHI | LYDRAGEEHY | NCISALHKSM | RGSDQNASLY | WLARMLEGGE | DPLYVARRLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RFASEDIGLA | DPSALTQAVA | AYQGCHFIGM | PECEVLLAQC | VVYFARAPKS | IEVYSAYNNV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KACLRNHQGP | LPPVPLHLRN | APTRLMKDLG | YGKGYKYNPM | YSEPVDQEYL | PEELRGVDFF |
| KQRRC |