Q9H6R4
PR
Gene name |
NOL6 |
Protein name |
Nucleolar protein 6 |
Names |
Nucleolar RNA-associated protein, Nrap |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65083 |
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
4 structures for Q9H6R4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | NH | 1-1146 | PDB |
| 7MQ9 | EM | 387 A | NH | 1-1146 | PDB |
| 7MQA | EM | 270 A | NH | 1-1146 | PDB |
| AF-Q9H6R4-F1 | Predicted | AlphaFoldDB |
975 variants for Q9H6R4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA373217890 CA5027730 rs745679011 |
2 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425563081 CA373217882 |
3 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1185805460 CA373217878 |
4 | A>S | No |
ClinGen gnomAD |
|
|
CA192515335 rs931580810 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs898734313 CA192515334 |
5 | P>A | No |
ClinGen Ensembl |
|
|
CA373217864 rs1209114394 |
7 | G>R | No |
ClinGen gnomAD |
|
|
rs757257996 CA5027728 |
8 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1037659962 CA192515323 |
8 | E>Q | No |
ClinGen TOPMed |
|
|
rs1158342862 CA373217852 |
9 | Q>K | No |
ClinGen TOPMed |
|
|
CA5027727 rs751583615 |
9 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5027726 rs144882485 |
10 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 11 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027725 rs758417504 |
11 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300332557 CA373217832 |
12 | G>E | No |
ClinGen gnomAD |
|
|
rs1363639810 CA373217834 |
12 | G>R | No |
ClinGen gnomAD |
|
|
rs1394032164 CA373217824 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA373217814 rs1169784620 |
15 | G>A | No |
ClinGen gnomAD |
|
|
CA373217815 rs1169784620 |
15 | G>E | No |
ClinGen gnomAD |
|
|
rs766767490 CA5027720 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761312474 CA5027719 |
17 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs554752206 CA5027718 |
18 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373217568 rs1587228283 |
19 | V>G | No |
ClinGen Ensembl |
|
|
rs1308724670 CA373217561 |
20 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1174121286 CA373217552 |
21 | E>D | No |
ClinGen gnomAD |
|
|
rs561278902 CA5027696 |
22 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1476136838 CA373217540 |
23 | A>V | No |
ClinGen TOPMed |
|
|
CA373217526 rs1473355826 |
26 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373217517 rs1563882566 |
27 | T>K | No |
ClinGen Ensembl |
|
|
rs1442406764 CA373217490 |
31 | G>E | No |
ClinGen gnomAD |
|
|
CA5027692 rs773155481 |
31 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192514022 rs1008951415 |
34 | A>S | No |
ClinGen TOPMed |
|
|
CA373217461 rs1202585773 |
35 | S>F | No |
ClinGen gnomAD |
|
|
rs748197204 CA5027690 |
36 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140712628 CA5027691 |
36 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779034760 CA5027689 |
38 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5027688 rs146862163 |
39 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027687 COSM185931 rs369599517 |
39 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1587228158 CA373217412 |
43 | E>D | No |
ClinGen Ensembl |
|
|
rs1372006138 CA373217400 |
45 | P>L | No |
ClinGen TOPMed |
|
|
rs575702886 CA5027685 |
46 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027683 rs768037553 |
47 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5027682 rs757903656 |
49 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027681 rs752239787 |
51 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs10971523 CA5027680 VAR_053541 |
52 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs116606598 CA5027678 |
53 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759119967 CA5027679 |
53 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5027677 rs765973240 |
54 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373217322 rs1367261036 |
58 | A>E | No |
ClinGen gnomAD |
|
|
rs772923657 CA373217302 |
61 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027676 rs760500856 |
61 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs761798288 CA5027673 |
62 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771996628 CA5027674 |
62 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771996628 CA373217298 |
62 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774287997 CA5027672 CA373217289 |
63 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192513902 rs139786027 |
64 | P>H | No |
ClinGen ESP TOPMed |
|
|
CA192513908 rs1042166676 |
64 | P>S | No |
ClinGen TOPMed |
|
|
rs757560458 CA5027671 |
65 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027670 rs749359544 |
66 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA5027669 rs751885625 |
67 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373217271 rs1410107630 |
67 | E>Q | No |
ClinGen TOPMed |
|
|
CA373217265 rs1322987064 |
68 | E>K | No |
ClinGen TOPMed |
|
|
rs769948895 CA5027668 |
69 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552985217 CA5027666 |
71 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027665 rs150632049 |
71 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1587227972 CA373217238 |
72 | L>F | No |
ClinGen Ensembl |
|
|
CA5027663 rs778451680 |
73 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027664 rs752043329 |
73 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1281572196 CA373217224 |
74 | E>D | No |
ClinGen TOPMed |
|
|
rs1563882411 CA373217219 |
75 | T>S | No |
ClinGen Ensembl |
|
|
rs754485725 CA5027662 |
77 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5027661 rs753341787 |
80 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766027559 CA5027660 |
81 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373217172 rs1390040534 |
82 | S>T | No |
ClinGen gnomAD |
|
|
rs1187076946 CA373217163 |
83 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5027659 rs115808915 |
85 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs115808915 CA5027658 |
85 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1462088 CA5027657 rs370047243 |
85 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 85 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199678533 CA373217125 |
88 | V>I | No |
ClinGen gnomAD |
|
|
CA373217124 rs1199678533 |
88 | V>L | No |
ClinGen gnomAD |
|
|
rs767188003 CA5027638 |
89 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482745992 CA373217115 |
89 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756997613 CA5027637 |
95 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5027636 rs751395711 |
96 | R>G | No |
ClinGen ExAC |
|
|
CA192513600 rs957697594 |
97 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs764012150 CA5027635 |
98 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA373217050 rs1275037537 |
100 | K>Q | No |
ClinGen gnomAD |
|
|
rs762856138 CA5027634 |
101 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027633 rs775510798 |
102 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA373217028 rs1258173909 |
103 | D>H | No |
ClinGen TOPMed |
|
|
CA5027631 rs200981776 |
104 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027629 rs551590250 |
104 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5027630 rs200981776 |
104 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1289878996 CA373217005 |
106 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027626 rs116311171 |
110 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027625 rs772623000 |
110 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5027627 rs116311171 |
110 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027624 rs748549121 |
112 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA373216972 rs1427561744 |
112 | V>F | No |
ClinGen gnomAD |
|
|
CA373216971 rs748549121 |
112 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5027622 rs755539636 |
113 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5027623 rs779479573 |
113 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400301747 CA373216957 |
114 | Q>H | No |
ClinGen TOPMed |
|
|
rs114417829 CA5027621 |
114 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027619 rs148515044 |
115 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780801923 CA5027620 |
115 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027618 rs147452771 |
116 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763817927 CA5027617 |
117 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA373216931 rs1587227622 |
119 | V>G | No |
ClinGen Ensembl |
|
|
CA5027614 rs765238753 |
120 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373216918 rs1326633130 |
122 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1342385855 CA373216894 |
125 | T>I | No |
ClinGen TOPMed |
|
|
CA373216896 rs1342385855 |
125 | T>K | No |
ClinGen TOPMed |
|
|
CA373216890 rs1209893647 |
126 | E>A | No |
ClinGen TOPMed |
|
|
CA373216887 rs1228410360 |
126 | E>D | No |
ClinGen gnomAD |
|
|
rs758075748 CA5027598 |
127 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373216691 rs1162764430 |
127 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5027597 rs566401587 |
129 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373216663 rs1385719845 |
131 | A>E | No |
ClinGen gnomAD |
|
|
CA5027596 rs778681841 |
132 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757012031 CA5027594 |
134 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249529858 CA373216646 |
134 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1487952396 CA373216638 |
135 | A>G | No |
ClinGen gnomAD |
|
|
CA5027593 rs766512867 |
136 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA373216624 rs1223053371 |
138 | R>* | No |
ClinGen gnomAD |
|
|
CA5027592 rs372394187 |
138 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027591 rs140889075 |
139 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373216614 rs1228162523 |
140 | P>S | No |
ClinGen gnomAD |
|
|
rs1367152612 CA373216584 |
144 | V>G | No |
ClinGen gnomAD |
|
|
CA5027586 rs774821450 |
144 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5027584 rs763391581 |
148 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1167829390 CA373216548 |
150 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192511570 rs993645496 |
150 | G>V | No |
ClinGen Ensembl |
|
|
rs1427718943 CA373216536 |
152 | F>L | No |
ClinGen gnomAD |
|
|
CA5027582 rs143770889 |
153 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373815590 CA5027581 |
153 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587225240 CA373216521 |
154 | F>S | No |
ClinGen Ensembl |
|
|
rs771793731 CA5027578 |
156 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA192511498 rs955273800 |
159 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 161 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027574 rs138199956 |
163 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756213764 CA5027572 |
168 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs756213764 CA5027573 |
168 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5027571 rs747524059 |
170 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027570 rs767604471 |
171 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762151928 CA5027569 |
171 | C>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1462086 CA5027567 rs764376131 |
173 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA373216408 rs116020901 |
173 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027566 rs116020901 |
173 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192511410 rs1033076164 |
175 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373216376 rs770330870 |
176 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177859006 CA373216356 |
178 | V>A | No |
ClinGen gnomAD |
|
|
CA373216340 rs1480543379 |
180 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5027562 rs772841808 |
181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5027561 rs771613184 |
183 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5027560 rs747780992 |
184 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373216288 rs1000672183 |
185 | P>A | No |
ClinGen TOPMed |
|
|
CA192511357 rs1000672183 |
185 | P>S | No |
ClinGen TOPMed |
|
|
rs761265686 CA5027541 |
188 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5027539 rs558159929 |
190 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1318060459 CA373216171 |
192 | K>Q | No |
ClinGen gnomAD |
|
|
CA373216147 rs1563880699 |
194 | G>R | No |
ClinGen Ensembl |
|
|
rs1371045706 CA373216134 |
194 | G>V | No |
ClinGen TOPMed |
|
|
rs370528708 CA192511036 |
195 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769722613 CA5027536 |
197 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373216101 rs1367166114 |
197 | Q>R | No |
ClinGen gnomAD |
|
|
rs745750030 CA5027535 |
198 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5027533 rs201999292 |
198 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201999292 CA5027534 |
198 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587224511 CA373216069 |
200 | F>Y | No |
ClinGen Ensembl |
|
|
CA5027532 rs747103900 |
201 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758338370 CA5027531 |
201 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262594232 CA373216038 |
203 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA373216020 rs1315078144 |
205 | L>F | No |
ClinGen TOPMed |
|
|
CA373215954 rs1276002409 |
211 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs150122122 CA373215950 |
212 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1293802296 CA373215943 |
212 | H>Q | No |
ClinGen gnomAD |
|
|
rs150122122 CA5027530 |
212 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760178230 CA192511015 |
216 | Q>* | No |
ClinGen Ensembl |
|
|
CA373215906 rs1346128978 |
216 | Q>R | No |
ClinGen gnomAD |
|
|
CA192511013 rs376817944 |
218 | P>A | No |
ClinGen ESP gnomAD |
|
|
rs975637741 CA192511006 |
219 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373215871 rs1306148623 |
220 | F>I | No |
ClinGen gnomAD |
|
|
CA5027529 rs140769644 |
223 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027528 rs765530656 |
225 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5027527 rs377666234 |
226 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373215791 rs1335464013 |
227 | Y>C | No |
ClinGen gnomAD |
|
|
rs766821612 CA373215756 |
230 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766821612 CA5027524 |
230 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425816725 CA373215731 |
232 | H>Y | No |
ClinGen gnomAD |
|
|
CA192510950 rs200541550 |
233 | L>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs112696019 CA5027523 |
237 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192510925 rs759717422 |
240 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774045471 CA5027522 |
240 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027521 COSM1108347 rs763835275 |
241 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027520 rs762753971 |
242 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1563880515 CA373215633 |
242 | R>H | No |
ClinGen Ensembl |
|
|
CA373215629 rs1563880509 |
243 | G>R | No |
ClinGen Ensembl |
|
|
rs752347935 CA5027502 |
245 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764847272 CA5027501 |
246 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1462085 CA5027499 rs776353162 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5027498 rs770885820 |
247 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373215580 rs770885820 |
247 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236745392 CA373215570 |
249 | V>I | No |
ClinGen gnomAD |
|
|
rs760545522 CA5027497 |
252 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027496 rs115821579 COSM1108345 |
252 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs772103128 CA192510591 |
255 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027494 rs748252465 |
255 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5027495 rs772103128 |
255 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374672572 CA373215480 |
258 | P>S | No |
ClinGen gnomAD |
|
|
rs200962402 CA5027491 |
260 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027490 rs116746143 |
263 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373215427 rs116746143 |
263 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756516749 CA5027489 |
263 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756516749 CA373215424 |
263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027488 rs774814675 |
264 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774814675 CA192510516 |
264 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027486 rs757958778 |
266 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5027484 rs140718868 |
266 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140718868 CA5027485 |
266 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373215373 rs1446174393 |
268 | L>P | No |
ClinGen gnomAD |
|
|
CA373215341 rs1187579695 |
272 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5027483 rs200578040 |
273 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753538678 COSM1462084 CA5027482 |
275 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027480 rs373302979 |
275 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027481 rs373302979 |
275 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773088258 CA5027479 |
276 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5027478 rs767496312 |
277 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192510399 rs960137709 |
279 | Y>H | No |
ClinGen TOPMed |
|
|
CA5027476 rs533447707 |
280 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373215261 rs1434722662 |
282 | Q>R | No |
ClinGen gnomAD |
|
|
CA5027475 rs564537335 |
285 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373215228 rs564537335 |
285 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA192510363 rs981010966 |
285 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA192510352 rs1016525688 |
286 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5027473 rs775811320 |
287 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027474 rs192128071 |
287 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192128071 CA373215211 |
287 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373215171 rs1170758735 |
288 | G>D | No |
ClinGen gnomAD |
|
|
rs774360326 CA5027456 |
289 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764015606 CA5027455 |
289 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA373215157 rs1563880119 |
290 | P>S | No |
ClinGen Ensembl |
|
|
rs1587223508 CA373215142 |
291 | E>G | No |
ClinGen Ensembl |
|
|
CA192510235 rs1053193138 |
292 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746229889 CA192510213 |
295 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746229889 CA373215104 |
295 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746229889 CA5027451 |
295 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770179448 CA5027452 |
295 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027449 rs115693717 |
296 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027450 rs115693717 |
296 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375623526 CA5027448 |
296 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373215101 rs115693717 |
296 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027446 rs754399634 |
301 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275291851 CA373215033 |
302 | L>Q | No |
ClinGen TOPMed |
|
|
rs1187168701 CA373215018 |
304 | D>N | No |
ClinGen TOPMed |
|
|
CA192510119 rs942619110 |
306 | V>I | No |
ClinGen Ensembl |
|
|
rs115864317 CA5027444 |
307 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115864317 CA373214989 |
307 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750206700 CA5027442 |
308 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389927190 CA373214965 |
309 | S>Y | No |
ClinGen TOPMed |
|
|
rs372426306 COSM1489949 CA5027436 |
315 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs780764340 CA192510059 |
316 | T>N | No |
ClinGen Ensembl |
|
|
rs759774158 CA5027434 |
317 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776997312 CA5027433 |
318 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs771380969 CA5027432 |
319 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs929759848 CA192510025 |
319 | S>R | No |
ClinGen Ensembl |
|
|
rs1417845437 CA373214877 |
320 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368257395 CA5027430 |
323 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192509987 rs992648377 |
323 | G>V | No |
ClinGen TOPMed |
|
|
rs1454389679 CA373214848 |
325 | K>M | No |
ClinGen TOPMed |
|
|
CA5027428 rs748743472 |
326 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1324425594 CA373214837 |
327 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1324425594 CA373214836 |
327 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1236866474 CA373214829 |
328 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1236866474 CA373214831 |
328 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1563879954 CA373214825 |
329 | A>T | No |
ClinGen Ensembl |
|
|
rs1307449335 CA373214798 |
333 | V>I | No |
ClinGen gnomAD |
|
|
CA373214788 rs1563879940 |
334 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 334 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027425 rs376740139 |
336 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027426 rs769310666 |
336 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373214771 rs1338358142 |
337 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5027423 rs756976795 |
338 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780856982 CA5027424 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587223234 CA373214762 |
339 | E>G | No |
ClinGen Ensembl |
|
|
rs751406879 CA5027422 |
340 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA373214748 rs758414193 CA5027421 |
341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752640336 CA5027402 |
344 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs758132693 CA5027403 |
344 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1372677793 CA373214577 |
345 | G>D | No |
ClinGen gnomAD |
|
|
rs1016907218 CA192509779 |
348 | T>S | No |
ClinGen TOPMed |
|
|
rs779014069 CA5027401 |
351 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373214516 rs1275580956 |
351 | L>P | No |
ClinGen TOPMed |
|
|
rs779014069 CA373214520 |
351 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs370746041 CA5027400 |
352 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373214449 rs1195793965 |
359 | L>I | No |
ClinGen gnomAD |
|
|
CA5027395 rs531610932 |
362 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5027394 rs767859783 |
362 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762118342 CA5027393 |
363 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373214397 rs774792732 |
363 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027392 rs774792732 |
363 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759039170 CA5027391 CA5027390 |
364 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373214367 rs1404892494 |
365 | I>M | No |
ClinGen gnomAD |
|
|
CA5027389 rs139300727 |
365 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5027387 rs746606141 |
366 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114110943 CA5027388 |
366 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs965788114 CA373214345 |
367 | T>A | No |
ClinGen TOPMed |
|
|
rs965788114 CA192509591 |
367 | T>S | No |
ClinGen TOPMed |
|
|
CA5027386 rs144568904 |
369 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373214311 rs1228801551 |
370 | S>T | No |
ClinGen gnomAD |
|
|
rs1388302383 CA373214305 |
371 | G>S | No |
ClinGen TOPMed |
|
|
rs1185293177 CA373214273 |
372 | Y>* | No |
ClinGen gnomAD |
|
|
CA373214283 rs1396193390 |
372 | Y>C | No |
ClinGen gnomAD |
|
|
rs771850611 CA5027385 |
373 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA373214254 rs1373781625 |
373 | Q>H | No |
ClinGen gnomAD |
|
|
rs1479420209 CA373214210 |
376 | R>S | No |
ClinGen gnomAD |
|
|
rs1268129571 CA373214165 |
379 | L>F | No |
ClinGen gnomAD |
|
|
rs749175470 CA5027363 |
384 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs953610216 CA192509323 |
385 | T>A | No |
ClinGen TOPMed |
|
|
CA5027362 rs546481675 |
386 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs965488537 CA192509309 |
391 | G>R | No |
ClinGen Ensembl |
|
|
CA5027360 rs745986122 |
393 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373213808 rs1307600811 |
398 | S>L | No |
ClinGen TOPMed |
|
|
CA192509287 rs952674144 |
398 | S>P | No |
ClinGen TOPMed |
|
|
rs1203915749 CA373213806 |
399 | D>H | No |
ClinGen gnomAD |
|
|
CA373213784 rs1450685873 |
400 | P>H | No |
ClinGen gnomAD |
|
|
CA373213782 rs1450685873 |
400 | P>R | No |
ClinGen gnomAD |
|
|
rs141328816 CA5027358 |
401 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs552138670 | 403 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027344 rs201544071 |
403 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192509112 rs1044500815 |
404 | A>T | No |
ClinGen Ensembl |
|
|
rs1161372367 CA373213619 |
408 | F>L | No |
ClinGen gnomAD |
|
|
rs770999495 CA5027340 |
412 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5027338 rs371774819 |
414 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027336 rs753041530 |
422 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA373213431 rs1219524515 |
423 | L>F | No |
ClinGen gnomAD |
|
|
CA373213417 rs1291522605 |
424 | N>D | No |
ClinGen gnomAD |
|
|
rs201426186 CA192509069 |
425 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1326857011 CA373213347 |
431 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 431 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027334 rs755498131 |
433 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027333 rs754382797 |
433 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767069844 CA5027332 |
435 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373213250 rs1587221808 |
437 | V>G | No |
ClinGen Ensembl |
|
|
rs759397539 CA5027306 |
437 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA192508914 COSM3848356 rs924145163 COSM3848355 |
438 | Q>* | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5027305 rs776527816 |
441 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235402892 CA373213197 |
442 | R>Q | No |
ClinGen gnomAD |
|
|
rs766342915 CA5027304 |
442 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772208507 CA5027301 |
445 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027300 rs748252674 |
445 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5027302 rs772208507 |
445 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410683415 CA373213162 |
446 | M>V | No |
ClinGen TOPMed |
|
|
rs768857719 CA5027298 |
449 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5027299 rs370419880 |
449 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 450 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027297 rs749715553 |
450 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548686142 CA373213080 |
453 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373213063 rs746387232 |
454 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5027295 rs756755136 |
454 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5027293 rs531563377 |
455 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA373213058 rs1366663854 |
455 | G>R | No |
ClinGen TOPMed |
|
|
rs985922840 CA192508829 |
459 | L>R | No |
ClinGen Ensembl |
|
|
CA192508828 rs374232592 |
460 | L>S | No |
ClinGen ESP |
|
|
CA5027290 rs764989402 |
461 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs952725497 CA192508827 |
461 | M>V | No |
ClinGen Ensembl |
|
|
CA192508816 rs201102024 |
463 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA373212940 rs1241375181 |
465 | P>L | No |
ClinGen gnomAD |
|
|
rs1279717436 CA373212944 |
465 | P>S | No |
ClinGen TOPMed |
|
|
rs753698381 CA5027287 |
466 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs202162427 CA5027288 |
466 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5027285 rs760549579 |
468 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027286 rs200468551 |
468 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370416601 CA5027284 |
469 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs867864018 CA192508498 |
476 | L>V | No |
ClinGen Ensembl |
|
|
rs144030112 CA5027249 COSM1462082 |
477 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027248 rs779705744 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779705744 CA373212765 |
477 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755882112 CA5027247 |
481 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs370467883 CA5027245 |
481 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370467883 CA5027246 |
481 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757280730 CA5027244 |
482 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972717864 CA192508431 |
483 | Q>H | No |
ClinGen Ensembl |
|
|
rs1587221209 CA373212713 |
484 | A>S | No |
ClinGen Ensembl |
|
|
CA5027243 rs751468583 |
484 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5027241 rs200127192 |
485 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027238 rs759973854 |
487 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs765593445 CA5027239 |
487 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM455852 CA5027236 rs771212659 |
488 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs139340786 CA5027237 COSM1462081 |
488 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373212660 rs1272036665 |
489 | L>R | No |
ClinGen TOPMed |
|
|
CA373212665 rs1277000935 |
489 | L>V | No |
ClinGen gnomAD |
|
|
rs1335522577 CA373212636 |
492 | W>R | No |
ClinGen gnomAD |
|
|
rs1223187216 CA373212616 |
493 | P>L | No |
ClinGen TOPMed |
|
|
CA373212595 rs1263921010 |
496 | Q>E | No |
ClinGen TOPMed |
|
|
CA373212585 rs1449277507 |
497 | D>N | No |
ClinGen gnomAD |
|
|
CA373212573 rs1401201101 |
498 | N>H | No |
ClinGen gnomAD |
|
|
rs773623545 CA5027234 |
498 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777109683 CA192508332 |
499 | G>D | No |
ClinGen TOPMed |
|
|
rs546907686 CA192508331 |
501 | D>N | No |
ClinGen Ensembl |
|
|
rs137958614 CA5027232 |
504 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373212504 rs1195949901 |
505 | A>G | No |
ClinGen TOPMed |
|
|
rs1479137130 CA373212479 |
509 | P>H | No |
ClinGen TOPMed |
|
|
CA5027229 rs745641108 |
509 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540574492 CA192508303 |
511 | T>A | No |
ClinGen Ensembl |
|
|
CA373212469 rs1241991545 |
511 | T>I | No |
ClinGen gnomAD |
|
|
rs369249921 CA373212464 |
512 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369249921 CA5027227 |
512 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373212455 rs1587220986 |
514 | L>R | No |
ClinGen Ensembl |
|
|
CA5027226 rs746911077 |
516 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1220282757 CA373212434 |
517 | G>D | No |
ClinGen gnomAD |
|
|
CA5027225 rs777904888 |
519 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027223 rs61995751 |
521 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373212414 rs1377845564 |
521 | R>W | No |
ClinGen gnomAD |
|
|
CA373212386 rs1358403183 |
526 | A>S | No |
ClinGen gnomAD |
|
|
rs1160166072 CA373212384 |
526 | A>V | No |
ClinGen gnomAD |
|
|
COSM3779957 rs760969123 CA5027218 COSM3779958 |
527 | H>Y | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA373212368 rs1384162661 |
529 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs546933819 CA5027217 |
529 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546933819 CA373212367 |
529 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs762448804 CA5027215 |
531 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762448804 CA373212356 |
531 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373212357 rs1398344820 |
531 | P>S | No |
ClinGen gnomAD |
|
|
CA192508131 rs928614400 |
536 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1364696973 CA373212305 |
537 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373212282 COSM138707 rs1162338574 |
540 | D>H | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA373212273 rs1406729117 |
541 | P>S | No |
ClinGen gnomAD |
|
|
rs770732846 CA5027210 |
542 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027206 rs758466201 |
545 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1265224311 CA373212235 |
546 | D>E | No |
ClinGen gnomAD |
|
|
CA373212241 rs1488845605 |
546 | D>N | No |
ClinGen gnomAD |
|
|
CA192508054 rs935331677 |
549 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1463221258 CA373212214 |
550 | L>P | No |
ClinGen gnomAD |
|
|
rs116483202 CA5027205 |
550 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373212208 rs779068950 |
551 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027204 rs779068950 |
551 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316117190 CA373212199 |
553 | G>E | No |
ClinGen gnomAD |
|
|
rs1297850979 CA373212188 |
555 | L>F | No |
ClinGen TOPMed |
|
|
rs570109199 CA5027202 |
557 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115753355 COSM1462080 CA5027203 |
557 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1247417355 CA373212152 |
561 | L>V | No |
ClinGen TOPMed |
|
|
CA5027198 rs200677942 |
564 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027199 rs200677942 |
564 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027197 rs762254523 |
569 | P>L | No |
ClinGen ExAC |
|
|
CA373212053 rs1173538537 |
571 | A>S | No |
ClinGen gnomAD |
|
|
CA373212031 rs1224555382 |
573 | Q>E | No |
ClinGen TOPMed |
|
|
CA5027193 rs776314081 |
573 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs776314081 CA5027194 |
573 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 574 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770552453 CA5027192 |
575 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1008515237 CA192507841 |
577 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373211955 rs1199310539 |
577 | A>T | No |
ClinGen gnomAD |
|
|
rs1563878512 CA373211922 |
579 | F>L | No |
ClinGen Ensembl |
|
|
rs1028823371 CA192507824 |
580 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1587220178 CA373211910 |
581 | Q>E | No |
ClinGen Ensembl |
|
|
CA5027170 rs761748919 |
581 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA373211875 rs1312626597 |
583 | W>* | No |
ClinGen gnomAD |
|
|
CA373211870 rs1308244352 |
584 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762041106 CA5027169 |
586 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901888326 CA192507810 |
586 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs145177147 CA5027168 |
587 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027167 rs749377289 |
588 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374756474 CA5027165 |
590 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141088844 CA5027166 |
590 | R>W | Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027164 rs746054266 |
591 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs781438877 CA5027163 |
591 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192507755 rs763530908 |
593 | Q>R | No |
ClinGen gnomAD |
|
|
rs558572103 CA5027161 |
595 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA373211733 rs1254166378 |
596 | A>G | No |
ClinGen gnomAD |
|
|
CA373211732 rs1254166378 |
596 | A>V | No |
ClinGen gnomAD |
|
|
CA5027160 rs778326753 |
597 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs940082817 CA192507736 |
597 | I>V | No |
ClinGen Ensembl |
|
|
CA5027158 rs753250395 |
598 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027159 rs758772676 |
598 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373211708 rs1188777918 |
600 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373211700 rs1563878414 |
602 | V>L | No |
ClinGen Ensembl |
|
|
rs1587220023 CA373211693 |
603 | W>G | No |
ClinGen Ensembl |
|
|
rs1587220011 CA373211677 |
605 | A>P | No |
ClinGen Ensembl |
|
|
rs374819418 CA5027155 |
606 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755707195 CA5027156 |
606 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373211672 rs755707195 |
606 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280550229 CA373211649 |
607 | S>C | No |
ClinGen TOPMed |
|
|
rs761697662 CA373211641 |
608 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5027153 rs761697662 |
608 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs184298169 CA5027152 |
612 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192507640 rs775669109 |
614 | I>T | No |
ClinGen gnomAD |
|
|
CA373211519 rs1297997648 |
616 | H>L | No |
ClinGen gnomAD |
|
|
CA5027151 rs763965548 |
616 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373211507 rs1362812285 |
617 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5027150 rs762735074 |
617 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA373211467 rs1366814581 |
619 | V>I | No |
ClinGen gnomAD |
|
|
rs1424348063 CA373211416 |
622 | L>V | No |
ClinGen gnomAD |
|
|
rs1262443250 CA373211396 |
623 | L>W | No |
ClinGen gnomAD |
|
|
rs769717209 CA5027148 |
624 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769717209 CA373211371 |
624 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5027147 rs745982982 |
625 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762833225 CA5027131 |
628 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1269085921 CA373211288 |
629 | I>V | No |
ClinGen gnomAD |
|
|
rs775255740 CA5027130 |
630 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373211265 rs1231356947 |
630 | P>L | No |
ClinGen TOPMed |
|
|
CA373211267 rs1231356947 |
630 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 631 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771001452 CA5027127 |
635 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs771001452 CA5027126 |
635 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5027128 rs759596776 |
635 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5027125 rs747158956 |
636 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA373211130 rs147891900 |
637 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027123 rs147891900 |
637 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027121 rs779285056 |
639 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563878234 CA373211082 |
639 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 641 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1329320091 | 641 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5027118 rs377071153 |
643 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756861629 CA5027117 |
643 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777534642 CA5027115 |
646 | Q>R | No |
ClinGen ExAC |
|
|
CA5027111 rs768527815 |
647 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752592088 CA5027113 |
647 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5027112 rs768527815 |
647 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752592088 CA5027114 |
647 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766396181 CA5027109 |
650 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343070797 CA373209985 |
651 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs770387061 CA5027082 |
653 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA373209907 rs1223097667 |
655 | G>S | No |
ClinGen TOPMed |
|
|
rs746372116 CA5027081 |
658 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371383324 CA192503700 |
661 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA5027078 rs144642460 |
662 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749148431 CA5027075 |
663 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA373209806 rs749148431 |
663 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1216765725 CA373209825 |
663 | V>I | No |
ClinGen TOPMed |
|
|
rs779953369 CA5027074 |
664 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317677453 CA373209797 |
664 | R>H | No |
ClinGen gnomAD |
|
|
rs147664039 CA5027072 |
667 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027070 rs369345141 |
668 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027069 rs374965069 |
669 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373209742 rs374965069 |
669 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300156678 CA373209731 |
670 | S>G | No |
ClinGen TOPMed |
|
|
rs573802066 CA5027068 |
671 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763331277 CA5027067 |
671 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 671 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777023821 CA373209672 |
674 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777023821 CA5027063 |
674 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373209646 rs1352090263 |
675 | G>E | No |
ClinGen TOPMed |
|
|
rs1417947024 CA373209652 CA373209656 |
675 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373209628 rs1563877937 |
676 | L>Q | No |
ClinGen Ensembl |
|
|
CA5027060 rs773980052 |
677 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373209605 rs1287611155 |
678 | G>D | No |
ClinGen TOPMed |
|
|
rs1489604561 CA373209593 |
679 | L>H | No |
ClinGen TOPMed |
|
|
rs1179401265 CA373209561 |
682 | T>I | No |
ClinGen gnomAD |
|
|
rs748943104 CA5027058 |
682 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs115581386 CA5027056 |
683 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027055 rs745776276 |
684 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373209536 rs1217936721 |
685 | A>D | No |
ClinGen gnomAD |
|
|
CA5027053 rs757386025 |
686 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201739412 CA5027052 |
687 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199904076 CA192503535 |
687 | Q>R | No |
ClinGen gnomAD |
|
|
CA5027051 rs764278548 |
688 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs139620819 CA5027050 |
689 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1394597981 CA373209485 |
690 | H>Y | No |
ClinGen gnomAD |
|
|
rs765598738 CA5027048 |
691 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759860117 COSM1217562 CA5027047 |
694 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777174045 CA5027046 |
694 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373209336 rs1252741838 |
699 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1033057582 CA192503260 |
699 | F>L | No |
ClinGen Ensembl |
|
|
CA5027029 rs187980082 |
700 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482848792 CA373209308 |
701 | P>S | No |
ClinGen gnomAD |
|
|
CA5027027 rs766771664 |
705 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5027026 rs116737763 |
705 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750949735 CA5027025 |
706 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027024 rs763552698 |
707 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1008798186 CA192503200 |
709 | S>F | No |
ClinGen TOPMed |
|
|
CA5027021 rs775183281 |
711 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027020 rs769387028 |
712 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs769387028 CA192503193 |
712 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759366969 CA5027019 |
713 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs370335926 CA5027017 |
715 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373209119 rs370335926 |
715 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027016 rs370335926 |
715 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5027018 rs200085062 COSM1196204 |
715 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs748236200 CA5027014 |
717 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192503099 rs915065164 |
717 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748236200 CA5027013 |
717 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373209083 rs1365609651 |
718 | S>P | No |
ClinGen gnomAD |
|
|
CA5027011 COSM1108342 rs35135082 |
723 | R>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM455849 CA5027009 rs780346321 |
723 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5027010 VAR_053542 rs35135082 |
723 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750896527 CA5027007 |
725 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546635702 CA5027008 |
725 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5027006 rs768058922 |
726 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5027005 rs762507723 |
728 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs377326096 CA5027004 |
729 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377326096 CA373208955 |
729 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA192503044 rs907520602 |
730 | A>T | No |
ClinGen gnomAD |
|
|
CA373208896 rs776381070 |
732 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782231 rs776381070 CA5027001 COSM3782230 |
732 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373208877 rs1563877641 |
733 | E>A | No |
ClinGen Ensembl |
|
|
rs1188684593 CA373208868 |
734 | P>T | No |
ClinGen gnomAD |
|
|
rs983461654 CA192503026 |
735 | M>V | No |
ClinGen gnomAD |
|
|
CA5026999 rs760597541 |
736 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200406834 CA373208809 |
737 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200406834 CA5026997 |
737 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760544203 CA5026981 |
738 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA373208711 rs1587218172 |
740 | H>P | No |
ClinGen Ensembl |
|
|
CA5026978 rs761607074 |
740 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453640445 CA373208659 |
744 | S>T | No |
ClinGen TOPMed |
|
|
CA373208650 rs1254370331 |
745 | G>S | No |
ClinGen gnomAD |
|
|
rs565489527 CA5026977 |
746 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1194584047 CA373208504 |
751 | A>T | No |
ClinGen gnomAD |
|
|
CA373208449 rs1587218135 |
753 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 753 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192502795 rs770065148 |
754 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026973 rs770065148 |
754 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026970 rs146204657 |
756 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5026971 rs146204657 |
756 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746091038 CA5026972 |
756 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA373208411 rs1587218098 |
757 | V>G | No |
ClinGen Ensembl |
|
|
rs945289619 CA373208417 |
757 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs945289619 CA192502758 |
757 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1449210177 CA373208407 |
758 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1326838505 CA373208404 |
758 | R>Q | No |
ClinGen gnomAD |
|
|
CA373208401 rs1411535312 |
759 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA373208361 rs1587218081 |
762 | Q>* | No |
ClinGen Ensembl |
|
|
rs747445388 CA5026969 |
762 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372944955 CA5026968 |
764 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111688613 CA5026967 |
764 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373208327 rs111688613 |
764 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 768 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753467311 CA5026966 |
771 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs753467311 CA373208246 |
771 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA373208241 rs1193329903 |
771 | Q>L | No |
ClinGen TOPMed |
|
|
rs1440018743 CA373208227 |
772 | Q>H | No |
ClinGen gnomAD |
|
|
CA5026965 rs765992596 |
772 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs765992596 CA373208229 |
772 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs917528181 CA192502708 |
773 | H>P | No |
ClinGen Ensembl |
|
|
rs1251710618 CA373208211 |
774 | G>A | No |
ClinGen gnomAD |
|
|
CA5026964 rs755770720 |
776 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA373208179 rs1346126712 |
777 | C>F | No |
ClinGen gnomAD |
|
|
rs200410990 CA5026963 |
778 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777486947 CA5026962 |
778 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs761706757 CA5026961 |
780 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277782907 CA373208130 |
781 | A>V | No |
ClinGen gnomAD |
|
|
CA5026960 rs138543416 |
782 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143021911 CA5026959 |
783 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373208112 rs1412747218 |
783 | H>R | No |
ClinGen gnomAD |
|
|
CA5026958 COSM1462078 rs763014336 |
784 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs149652272 CA5026955 |
785 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373208090 rs1418659398 |
785 | D>Y | No |
ClinGen gnomAD |
|
|
rs369170689 CA5026954 |
786 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5026924 rs370743561 |
789 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373207987 rs202071111 |
789 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5026925 rs202071111 |
789 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751180336 CA5026923 |
792 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5026922 rs150457940 |
794 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150457940 CA5026921 |
794 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373207919 rs1397385880 |
794 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765219420 CA5026919 |
796 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026918 rs759611145 |
796 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA192502277 rs201316237 |
797 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755449142 CA5026916 |
799 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140531440 CA5026914 |
801 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5026915 rs199616532 |
801 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767961635 CA5026913 |
803 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5026912 rs774984088 |
804 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA192502254 rs974668991 |
804 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 807 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552033932 CA192502213 |
809 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552033932 CA5026909 |
809 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1442516089 CA373207748 |
811 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 813 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5026906 rs746645317 |
814 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs758178836 CA5026904 |
815 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs147925131 CA5026903 |
817 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs78978466 CA192502146 |
818 | L>R | No |
ClinGen Ensembl |
|
|
CA5026901 rs373305411 |
818 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5026899 rs766442883 |
821 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5026898 rs756187852 |
821 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs115142129 CA5026895 |
826 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5026894 rs369849073 |
826 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373207564 rs369849073 |
826 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026896 rs115142129 |
826 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1277833988 CA373207549 |
828 | E>Q | No |
ClinGen gnomAD |
|
|
rs763463783 CA373207513 |
830 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347995543 CA373207500 |
831 | T>I | No |
ClinGen gnomAD |
|
|
rs770456670 CA373207476 |
833 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746562477 CA5026888 |
835 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA373207448 rs1375203653 |
836 | L>P | No |
ClinGen gnomAD |
|
|
CA5026887 rs772850105 |
836 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026886 rs771649301 |
838 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747814157 CA5026885 |
838 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192502016 rs868348758 |
839 | S>G | No |
ClinGen Ensembl |
|
|
rs1395800857 CA373207410 |
840 | A>V | No |
ClinGen gnomAD |
|
|
rs1417376303 CA373207398 |
841 | L>P | No |
ClinGen gnomAD |
|
| rs749219176 | 842 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192502000 rs1054787892 |
842 | H>R | No |
ClinGen TOPMed |
|
|
CA373207377 rs1485256346 |
843 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA192501666 rs572006452 |
844 | L>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs572006452 CA373207303 |
844 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1166975378 CA373207210 |
850 | A>V | No |
ClinGen gnomAD |
|
|
CA373207185 rs1372226807 |
852 | S>C | No |
ClinGen gnomAD |
|
|
rs1190598136 CA373207173 |
853 | G>D | No |
ClinGen gnomAD |
|
|
CA5026857 rs745809753 |
854 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5026856 rs781368425 |
855 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA192501654 rs992403922 |
856 | R>Q | No |
ClinGen Ensembl |
|
|
rs1192510322 CA373207131 |
858 | A>G | No |
ClinGen gnomAD |
|
|
CA373207111 rs1271891824 |
860 | R>Q | No |
ClinGen gnomAD |
|
|
CA5026855 rs757441192 COSM1108340 |
860 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1587216859 CA373207079 |
862 | V>G | No |
ClinGen Ensembl |
|
|
rs535198587 CA5026853 |
862 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535198587 CA5026854 |
862 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758788454 CA5026852 |
863 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026851 rs752941350 |
863 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 864 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 865 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373207034 rs1225545795 |
866 | L>F | No |
ClinGen gnomAD |
|
|
rs200750631 CA373206926 |
871 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5026849 rs759913066 |
871 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5026847 rs368533600 |
872 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868355148 CA192501581 |
873 | D>Y | No |
ClinGen Ensembl |
|
|
rs1387223881 CA373206843 |
875 | S>I | No |
ClinGen gnomAD |
|
|
CA373206759 rs1373343316 |
880 | A>T | No |
ClinGen gnomAD |
|
|
COSM185929 rs1452102459 CA373206740 |
881 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1254262257 CA373206736 |
881 | A>V | No |
ClinGen gnomAD |
|
|
CA373206733 rs1196068395 |
882 | A>T | No |
ClinGen gnomAD |
|
|
CA373206727 rs1452641751 |
882 | A>V | No |
ClinGen gnomAD |
|
|
CA192501566 rs867921242 |
883 | L>P | No |
ClinGen Ensembl |
|
|
CA373206657 rs761363037 |
886 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1297159698 CA373206663 |
886 | H>R | No |
ClinGen TOPMed |
|
|
CA373206666 rs1194476889 |
886 | H>Y | No |
ClinGen gnomAD |
|
|
rs773978033 CA5026845 |
887 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3413611 rs745624751 COSM3413610 CA192501552 |
888 | E>G | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1563876848 CA373206565 |
891 | T>A | No |
ClinGen Ensembl |
|
|
CA373206560 rs1313597880 |
891 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373206562 rs1313597880 |
891 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1563876848 CA373206568 |
891 | T>P | No |
ClinGen Ensembl |
|
|
CA192501540 rs147679998 |
892 | P>R | No |
ClinGen ESP |
|
| TCGA novel | 893 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335143019 CA373206538 |
893 | P>S | No |
ClinGen gnomAD |
|
|
rs1392979538 CA373206501 |
894 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763672425 CA5026825 |
894 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413205765 CA373206411 |
895 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867350221 CA192501235 |
902 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867350221 CA373206328 |
902 | R>G | No |
ClinGen gnomAD |
|
|
CA5026824 rs762461389 |
902 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373206318 rs1457757640 |
903 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 905 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5026823 rs775236385 |
907 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA373206242 rs1199758910 |
908 | S>L | No |
ClinGen TOPMed |
|
|
rs759450339 CA5026821 |
909 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776708816 CA5026820 |
909 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1231277874 CA373206226 |
911 | D>G | No |
ClinGen gnomAD |
|
|
CA5026819 rs770927449 |
911 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373206202 rs1161268146 |
914 | N>S | No |
ClinGen gnomAD |
|
|
rs773120244 CA5026817 |
916 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA192501151 rs778877799 |
917 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778877799 CA5026816 |
917 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5026815 rs142747625 |
920 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779247221 CA5026814 |
921 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs148693216 CA5026813 |
922 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 925 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373206125 rs1416325886 |
926 | T>A | No |
ClinGen gnomAD |
|
|
CA5026812 rs749718361 |
926 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA373205914 rs1207764046 |
928 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373205892 rs1455201868 |
930 | Q>H | No |
ClinGen TOPMed |
|
|
rs1274766111 CA373205895 |
930 | Q>R | No |
ClinGen gnomAD |
|
|
rs1587215359 CA373205887 |
931 | V>G | No |
ClinGen Ensembl |
|
|
CA5026794 rs768797655 |
931 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1346541690 CA373205884 |
932 | E>* | No |
ClinGen gnomAD |
|
|
CA192500514 rs1010822427 |
933 | I>V | No |
ClinGen gnomAD |
|
|
rs749524318 CA5026793 |
934 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA5026792 rs149936727 |
934 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770171667 CA5026791 |
935 | S>T | No |
ClinGen ExAC |
|
|
CA373205835 rs1223459420 |
940 | A>P | No |
ClinGen TOPMed |
|
|
rs746325359 CA5026790 |
941 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA373205826 rs1442005323 |
942 | A>T | No |
ClinGen gnomAD |
|
|
rs748291542 CA192500466 |
944 | L>F | No |
ClinGen Ensembl |
|
|
rs200115109 CA5026787 |
946 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373205801 rs200115109 |
946 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985667741 CA192500458 |
947 | M>I | No |
ClinGen TOPMed |
|
|
rs1272931378 CA373205780 |
949 | I>F | No |
ClinGen TOPMed |
|
|
CA5026786 rs778582534 |
949 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1272931378 CA373205782 |
949 | I>V | No |
ClinGen TOPMed |
|
|
rs1425862873 CA373205775 |
950 | V>I | No |
ClinGen gnomAD |
|
|
CA373205766 rs1176547977 |
951 | T>N | No |
ClinGen gnomAD |
|
|
rs1253633302 CA373205759 |
952 | P>L | No |
ClinGen gnomAD |
|
|
CA373205762 rs1216028302 |
952 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 953 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5026782 rs141680920 |
955 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM753604 COSM3413609 rs750316620 CA5026781 |
955 | R>H | lung central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA192500425 rs181180660 |
956 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA373205733 rs1587215213 |
956 | K>R | No |
ClinGen Ensembl |
|
|
rs761660131 CA5026779 |
958 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375299073 CA192500406 CA373205716 |
959 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774429728 CA5026778 |
960 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA373205708 rs1290557466 |
960 | W>L | No |
ClinGen gnomAD |
|
|
rs1416820067 CA373205703 |
961 | T>A | No |
ClinGen TOPMed |
|
|
CA373205698 rs1587215175 |
962 | Q>K | No |
ClinGen Ensembl |
|
|
rs1327790533 CA373205695 |
962 | Q>R | No |
ClinGen TOPMed |
|
|
CA373205682 rs1375124188 |
964 | G>R | No |
ClinGen gnomAD |
|
|
rs768746255 CA5026777 |
965 | P>T | No |
ClinGen ExAC |
|
|
rs1311280104 CA373205665 |
967 | A>T | No |
ClinGen gnomAD |
|
|
CA373205625 rs1166483932 |
969 | I>L | No |
ClinGen gnomAD |
|
|
CA5026755 rs777008328 |
969 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs771234978 CA5026754 |
971 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465854946 CA373205588 |
972 | Q>H | No |
ClinGen gnomAD |
|
|
CA373205598 rs1184311316 |
972 | Q>K | No |
ClinGen gnomAD |
|
|
CA5026753 rs747524028 |
973 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5026752 rs773905012 |
974 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373205573 rs1209834204 |
974 | V>M | No |
ClinGen gnomAD |
|
|
rs922430317 CA192500199 |
977 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748874831 CA5026750 |
978 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA373205466 rs1439999984 |
983 | M>R | No |
ClinGen gnomAD |
|
|
CA5026747 rs745528468 |
984 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1295026170 CA373205409 |
987 | Q>R | No |
ClinGen gnomAD |
|
|
rs757042053 CA5026746 |
988 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757042053 CA5026745 |
988 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5026743 rs758465557 |
989 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5026742 rs758465557 |
989 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308704513 CA373205359 |
991 | P>L | No |
ClinGen TOPMed |
|
|
rs190107267 CA5026740 |
991 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190107267 CA5026741 |
991 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5026738 rs115548117 |
992 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5026739 rs759767101 |
992 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468398932 CA373205345 |
993 | G>E | No |
ClinGen gnomAD |
|
|
rs761180541 CA5026736 |
994 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373205340 rs766743496 |
994 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026737 rs766743496 |
994 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447352049 CA373205319 |
996 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1447352049 CA373205316 |
996 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780474715 CA373205292 |
997 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA192499778 rs929671606 |
1000 | V>A | No |
ClinGen TOPMed |
|
|
rs1174839891 CA373205202 |
1001 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373205193 rs1309421417 |
1002 | R>Q | No |
ClinGen TOPMed |
|
|
CA373205195 rs1466956849 |
1002 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1363612849 CA373205183 |
1003 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5026705 rs769325323 |
1004 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373205170 rs769325323 |
1004 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026704 rs150509831 |
1005 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1006 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192499764 rs939580062 |
1007 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5026702 rs141606457 |
1009 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370221885 CA5026699 |
1010 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370221885 CA5026700 |
1010 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA192499731 rs998753673 |
1011 | L>V | No |
ClinGen TOPMed |
|
|
CA5026697 rs778777945 |
1013 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778777945 CA192499725 |
1013 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026696 rs755082178 |
1013 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192499695 rs755082178 |
1013 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388608767 CA373204954 |
1015 | S>F | No |
ClinGen gnomAD |
|
|
CA5026693 rs533529372 |
1016 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1497072 rs533529372 CA5026694 |
1016 | P>T | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs750704056 CA5026692 |
1017 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373204919 rs767961563 |
1017 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5026691 rs767961563 |
1017 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762316986 CA5026690 |
1018 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5026689 rs763517037 |
1019 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA373204874 rs1391654433 |
1019 | I>T | No |
ClinGen gnomAD |
|
|
CA5026686 rs775943010 |
1020 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026682 rs766488180 |
1021 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026683 rs772903125 |
1021 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587213922 CA373204806 |
1022 | H>P | No |
ClinGen Ensembl |
|
|
rs915342074 CA192499589 |
1022 | H>Y | No |
ClinGen Ensembl |
|
|
CA5026681 rs148170342 |
1023 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5026680 rs778774327 |
1023 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778774327 CA373204781 |
1023 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226284356 CA373204770 |
1024 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA192499568 rs143835066 |
1026 | V>M | No |
ClinGen ESP |
|
|
CA373204716 rs1358072646 |
1027 | D>V | No |
ClinGen gnomAD |
|
|
rs1284399566 CA373204698 |
1028 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373204705 rs1211778935 |
1028 | S>P | No |
ClinGen TOPMed |
|
|
CA5026678 rs749272224 |
1029 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026677 rs538178073 |
1031 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5026676 rs756301443 |
1032 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1389881054 CA373204652 |
1032 | S>Y | No |
ClinGen gnomAD |
|
|
CA192499508 rs919281496 |
1033 | F>L | No |
ClinGen TOPMed |
|
|
CA5026675 rs750650917 |
1033 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026673 rs376917733 |
1035 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781622406 CA5026674 |
1035 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026670 rs773104111 |
1038 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753290965 CA5026669 |
1039 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5026668 rs114080864 |
1041 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192499473 rs114080864 |
1041 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5026666 rs772846387 |
1042 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA192499444 rs367598608 |
1043 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5026665 rs767093871 |
1045 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs773970975 CA5026663 |
1047 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5026664 rs115075270 |
1047 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373204452 rs1228455402 |
1048 | P>S | No |
ClinGen gnomAD |
|
|
CA373204443 rs749146880 |
1049 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749146880 CA5026661 |
1049 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA373204400 rs1315323066 |
1050 | L>R | No |
ClinGen TOPMed |
|
|
CA5026659 rs527640275 |
1051 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5026658 rs527640275 |
1051 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1054 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324468329 CA373204321 |
1057 | L>F | No |
ClinGen gnomAD |
|
|
rs1429292389 CA373204319 |
1057 | L>H | No |
ClinGen gnomAD |
|
|
rs562153470 CA5026657 |
1058 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs116537880 CA5026656 |
1060 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116537880 CA5026655 |
1060 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5026653 rs758847867 CA373204252 |
1061 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs369399799 CA192499359 |
1063 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369399799 CA5026652 |
1063 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373204223 CA5026651 rs201418381 |
1063 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78504369 CA192499183 |
1065 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78504369 CA5026628 |
1065 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199711524 CA5026629 |
1065 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373204129 rs199711524 |
1065 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78504369 CA5026627 |
1065 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373204071 rs1301214221 |
1067 | G>E | No |
ClinGen gnomAD |
|
|
CA373204044 rs1359731803 |
1069 | L>V | No |
ClinGen gnomAD |
|
|
rs1455450807 CA373204015 |
1071 | L>R | No |
ClinGen gnomAD |
|
|
rs1158331649 CA373204022 |
1071 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1074 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976722571 CA192499181 |
1074 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373203903 rs1352770837 |
1076 | Q>R | No |
ClinGen TOPMed |
|
|
CA192499172 rs965323998 |
1079 | G>R | No |
ClinGen Ensembl |
|
|
CA192499170 rs938777188 |
1080 | E>K | No |
ClinGen TOPMed |
|
|
CA5026625 rs762516873 |
1081 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352527556 CA373203745 |
1083 | G>A | No |
ClinGen TOPMed |
|
|
rs1483280885 CA373203676 |
1087 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5026624 rs752482631 |
1088 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587213333 CA373203634 |
1089 | T>P | No |
ClinGen Ensembl |
|
|
rs374584991 COSM1462075 CA5026623 |
1093 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA373203514 rs1270373598 |
1095 | P>L | No |
ClinGen gnomAD |
|
|
rs985330894 CA192499100 |
1097 | K>E | No |
ClinGen Ensembl |
|
|
CA5026600 rs760542978 |
1098 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5026598 rs772079186 |
1099 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA373203259 rs1166228526 |
1102 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5026597 rs761994679 |
1103 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768991788 CA5026595 |
1104 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs116739206 CA5026594 |
1104 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395032974 CA373203179 |
1107 | M>I | No |
ClinGen gnomAD |
|
|
rs911203027 CA192498820 |
1107 | M>L | No |
ClinGen TOPMed |
|
|
CA192498816 rs754669850 |
1109 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5026593 rs754669850 |
1109 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs138187500 CA5026592 |
1109 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5026591 rs746382646 |
1110 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777296297 CA5026590 |
1111 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752386663 CA5026588 |
1113 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA373202965 rs1458261049 |
1114 | V>A | No |
ClinGen TOPMed |
|
|
rs1303189745 CA373202962 |
1115 | M>V | No |
ClinGen gnomAD |
|
|
rs1469841260 CA373202954 |
1116 | V>M | No |
ClinGen gnomAD |
|
|
CA5026586 rs185463252 |
1117 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778776704 CA5026587 |
1117 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373202943 rs1305791410 |
1118 | N>D | No |
ClinGen gnomAD |
|
|
CA5026585 rs150750211 |
1118 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1324617093 CA373202918 |
1121 | A>V | No |
ClinGen TOPMed |
|
|
rs766114550 CA5026584 |
1122 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1331339549 CA373202916 |
1122 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1123 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373202900 rs1465942944 |
1124 | E>D | No |
ClinGen gnomAD |
|
|
CA373202892 rs1364671749 |
1125 | D>E | No |
ClinGen gnomAD |
|
|
rs750370057 CA5026582 |
1125 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187296377 CA373202871 |
1129 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1587212553 CA373202854 |
1131 | E>D | No |
ClinGen Ensembl |
|
|
rs1440857450 CA373202835 |
1135 | Q>* | No |
ClinGen gnomAD |
|
|
CA5026581 rs201141253 |
1135 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192498663 rs961207847 |
1136 | T>I | No |
ClinGen TOPMed |
|
|
CA192498660 rs1035467506 |
1137 | V>E | No |
ClinGen Ensembl |
|
|
CA373202823 rs1464483706 |
1137 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs554253286 CA5026580 |
1140 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774549260 CA5026579 |
1140 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373202770 rs1179877559 |
1144 | W>C | No |
ClinGen TOPMed |
|
|
CA373202777 rs1453550719 |
1144 | W>R | No |
ClinGen TOPMed |
|
|
rs763172241 CA373202763 |
1146 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763172241 CA5026577 |
1146 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9H6R4
6 regional properties for Q9H6R4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Nrap protein domain 1 | 178 - 317 | IPR035082 |
| domain | Nrap protein, domain 2 | 324 - 462 | IPR035367 |
| domain | Nrap protein, domain 3 | 468 - 627 | IPR035368 |
| domain | Nrap protein, domain 4 | 646 - 846 | IPR035369 |
| domain | Nrap protein, domain 5 | 848 - 1003 | IPR035370 |
| domain | Nrap protein, domain 6 | 1005 - 1137 | IPR035371 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| condensed nuclear chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome. |
| CURI complex | A protein complex that is involved in the transcription of ribosomal genes. In Saccharomyces this complex consists of Ckb2p, Utp22p, Rrp7p and Ifh1p. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| 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. |
| UTP-C complex | A protein complex that forms a subcomplex of the 90S preribosome. In S. cerevisiae, it is composed of Rrp7p, Utp22p, Ckb1p, Cka1p, Ckb2p and Cka2p. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| tRNA export from nucleus | The directed movement of tRNA from the nucleus to the cytoplasm. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53254 | UTP22 | U3 small nucleolar RNA-associated protein 22 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8IH00 | Mat89Ba | Nucleolar protein 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q5M7P5 | nol6 | Nucleolar protein 6 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPAPAGEQL | RGATGEPEVM | EPALEGTGKE | GKKASSRKRT | LAEPPAKGLL | QPVKLSRAEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YKEPTNEELN | RLRETEILFH | SSLLRLQVEE | LLKEVRLSEK | KKDRIDAFLR | EVNQRVVRVP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SVPETELTDQ | AWLPAGVRVP | LHQVPYAVKG | CFRFLPPAQV | TVVGSYLLGT | CIRPDINVDV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALTMPREILQ | DKDGLNQRYF | RKRALYLAHL | AHHLAQDPLF | GSVCFSYTNG | CHLKPSLLLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PRGKDERLVT | VRLHPCPPPD | FFRPCRLLPT | KNNVRSAWYR | GQSPAGDGSP | EPPTPRYNTW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLQDTVLESH | LQLLSTILSS | AQGLKDGVAL | LKVWLRQREL | DKGQGGFTGF | LVSMLVVFLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STRKIHTTMS | GYQVLRSVLQ | FLATTDLTVN | GISLCLSSDP | SLPALADFHQ | AFSVVFLDSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GHLNLCADVT | ASTYHQVQHE | ARLSMMLLDS | RADDGFHLLL | MTPKPMIRAF | DHVLHLRPLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLQAACHRLK | LWPELQDNGG | DYVSAALGPL | TTLLEQGLGA | RLNLLAHSRP | PVPEWDISQD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PPKHKDSGTL | TLGLLLRPEG | LTSVLELGPE | ADQPEAAKFR | QFWGSRSELR | RFQDGAIREA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VVWEAASMSQ | KRLIPHQVVT | HLLALHADIP | ETCVHYVGGP | LDALIQGLKE | TSSTGEEALV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AAVRCYDDLS | RLLWGLEGLP | LTVSAVQGAH | PVLRYTEVFP | PTPVRPAFSF | YETLRERSSL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LPRLDKPCPA | YVEPMTVVCH | LEGSGQWPQD | AEAVQRVRAA | FQLRLAELLT | QQHGLQCRAT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ATHTDVLKDG | FVFRIRVAYQ | REPQILKEVQ | SPEGMISLRD | TAASLRLERD | TRQLPLLTSA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LHGLQQQHPA | FSGVARLAKR | WVRAQLLGEG | FADESLDLVA | AALFLHPEPF | TPPSSPQVGF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LRFLFLVSTF | DWKNNPLFVN | LNNELTVEEQ | VEIRSGFLAA | RAQLPVMVIV | TPQDRKNSVW |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TQDGPSAQIL | QQLVVLAAEA | LPMLEKQLMD | PRGPGDIRTV | FRPPLDIYDV | LIRLSPRHIP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| RHRQAVDSPA | ASFCRGLLSQ | PGPSSLMPVL | GYDPPQLYLT | QLREAFGDLA | LFFYDQHGGE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| VIGVLWKPTS | FQPQPFKASS | TKGRMVMSRG | GELVMVPNVE | AILEDFAVLG | EGLVQTVEAR |
| SERWTV |