O95671
PR
Gene name |
ASMTL |
Protein name |
Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8623 |
EC number |
3.6.1.9: In phosphorus-containing anhydrides |
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 O95671
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2P5X | X-ray | 200 A | A/B | 10-239 | PDB |
| 6XI4 | X-ray | 222 A | A/B | 10-239 | PDB |
| 6XI5 | X-ray | 261 A | A/B | 10-239 | PDB |
| AF-O95671-F1 | Predicted | AlphaFoldDB |
650 variants for O95671
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10333596 rs771020084 |
2 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1268796562 CA412238279 |
4 | C>* | No |
ClinGen gnomAD |
|
|
rs749260410 CA412238268 |
5 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749260410 CA10333595 |
5 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412238273 rs1227342476 |
5 | P>S | No |
ClinGen gnomAD |
|
|
CA412238266 rs1327977468 |
6 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746890402 CA10333592 |
8 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1411878401 CA412238191 |
12 | H>N | No |
ClinGen gnomAD |
|
|
rs779966089 CA10333591 |
14 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10333590 rs374413162 |
14 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333589 rs750125691 |
15 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468418414 CA412238139 |
17 | L>M | No |
ClinGen TOPMed |
|
|
rs1191704618 CA412238130 |
18 | A>S | No |
ClinGen gnomAD |
|
|
rs756791563 CA10333587 |
19 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1238268974 CA412238109 CA412238111 |
19 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412238091 rs1440661997 |
21 | S>F | No |
ClinGen TOPMed |
|
|
CA412238085 rs1271310703 |
22 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412238078 rs1346283954 |
23 | R>G | No |
ClinGen gnomAD |
|
|
CA10333584 rs764717433 |
24 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764717433 CA412238072 |
24 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232765791 CA412238057 |
25 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA412238058 rs1232765791 |
25 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761079794 CA412238042 |
26 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775960853 CA10333582 |
27 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA412238022 rs1444631563 |
28 | L>F | No |
ClinGen gnomAD |
|
|
rs1438808618 CA412238004 |
29 | S>R | No |
ClinGen TOPMed |
|
|
CA412237990 rs1353027131 |
30 | N>K | No |
ClinGen gnomAD |
|
|
rs186060961 CA10333581 |
31 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412237980 rs186060961 |
31 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201166259 CA10333552 |
32 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428565288 CA412258255 |
34 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1266268806 CA412258250 |
35 | F>I | No |
ClinGen TOPMed |
|
|
CA412258226 rs1355998090 |
36 | E>A | No |
ClinGen TOPMed |
|
|
rs575707349 CA325926703 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA10333550 rs748868059 |
37 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1462679736 CA412258204 |
38 | V>L | No |
ClinGen gnomAD |
|
|
CA10333549 rs750948527 |
40 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333548 rs755611012 |
41 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1475057561 CA412258162 |
42 | F>V | No |
ClinGen gnomAD |
|
|
rs202058812 TCGA novel CA412258024 |
51 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
CA412258019 rs373103165 |
52 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333544 rs373103165 |
52 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214454821 CA412258012 |
52 | A>V | No |
ClinGen gnomAD |
|
|
CA412258006 rs1469971704 |
53 | T>A | No |
ClinGen gnomAD |
|
|
CA412257990 rs1189882195 |
54 | P>L | No |
ClinGen TOPMed |
|
|
CA412257992 rs1471488354 |
54 | P>S | No |
ClinGen TOPMed |
|
|
rs763330901 CA10333542 |
55 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA412257969 rs1307798605 |
56 | G>V | No |
ClinGen gnomAD |
|
|
rs1161062333 CA412257960 |
57 | Y>H | No |
ClinGen TOPMed |
|
|
rs1429771988 CA412257951 |
58 | A>T | No |
ClinGen TOPMed |
|
|
CA412257942 rs1212730194 |
59 | M>V | No |
ClinGen gnomAD |
|
|
rs375839536 CA412257930 |
60 | E>* | No |
ClinGen ESP ExAC TOPMed |
|
|
rs375839536 CA10333540 |
60 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs371818582 CA10333538 |
62 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333537 rs772198950 |
63 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333536 rs759513446 |
64 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768985299 CA325926702 |
65 | K>M | No |
ClinGen 1000Genomes |
|
| TCGA novel | 65 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 66 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325926701 rs770937508 |
67 | L>V | No |
ClinGen Ensembl |
|
|
rs749069477 CA10333533 |
69 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333531 rs200883990 |
71 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412257772 rs200883990 |
71 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200185423 CA10333528 |
72 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333527 rs200185423 |
72 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10333529 rs780650805 |
72 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1213223432 CA412257746 |
73 | L>V | No |
ClinGen gnomAD |
|
|
CA10333526 rs780572723 |
74 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA412256830 rs1173051147 |
77 | D>H | No |
ClinGen gnomAD |
|
|
CA412256817 rs1454339537 |
78 | L>M | No |
ClinGen gnomAD |
|
|
rs1365618889 CA412256813 |
78 | L>P | No |
ClinGen gnomAD |
|
|
COSM1490735 CA10333492 rs746554233 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10333493 rs199756565 |
79 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333489 rs746367030 |
80 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412256800 rs1189864433 |
80 | A>T | No |
ClinGen gnomAD |
|
|
CA10333490 rs746367030 |
80 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412256781 rs779515758 |
81 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384643533 CA412256779 |
81 | P>R | No |
ClinGen TOPMed |
|
|
CA10333488 rs779515758 |
81 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412256765 rs1239998286 |
82 | D>A | No |
ClinGen TOPMed |
|
|
CA412256759 rs190761175 |
82 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749599167 CA412256769 |
82 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333486 rs749599167 |
82 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756391527 CA10333484 |
83 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10333482 rs767611793 |
85 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs767611793 CA412256723 |
85 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA412256716 rs186205203 |
86 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10333481 rs186205203 |
86 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10333480 rs763490733 |
87 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383274974 CA412256691 |
88 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs761606301 CA10333478 |
89 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333475 rs182237458 |
90 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333474 rs774916001 |
91 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1213412088 CA412255685 |
92 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM3424652 rs188837477 CA10333439 |
94 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD |
|
CA10333438 rs767258476 |
95 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333437 rs767258476 |
95 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756040609 | 96 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10333434 rs754583326 |
99 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412255582 rs1396347670 |
100 | K>R | No |
ClinGen gnomAD |
|
|
CA10333433 rs751164203 |
101 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412255574 rs1264920129 |
101 | P>T | No |
ClinGen TOPMed |
|
|
rs773858052 CA10333430 |
102 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1448322692 CA412255564 |
102 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183823450 CA10333428 |
105 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412255522 rs1248861758 |
105 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349311941 CA412255497 |
107 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10333426 rs768959330 |
108 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA412255470 rs1314526476 |
109 | R>G | No |
ClinGen gnomAD |
|
|
rs1232235679 CA412255468 |
109 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA412255463 rs747215166 |
109 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs775645266 CA10333424 |
110 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333423 rs772174511 |
112 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10333422 rs745883864 |
112 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs191070699 CA10333421 |
113 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA325926341 COSM1245566 rs371170777 |
113 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
| TCGA novel | 114 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412255207 rs1267687108 |
115 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10333393 rs756746477 |
116 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1362640283 CA412255097 |
119 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1427995763 CA412255066 |
121 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1442587660 CA412255045 |
122 | F>S | No |
ClinGen TOPMed |
|
|
rs753048371 CA10333389 |
124 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs374727829 CA10333386 |
126 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770946647 CA10333385 |
126 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1405257721 CA412254966 |
127 | I>V | No |
ClinGen gnomAD |
|
|
rs770689694 CA10333381 |
128 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746865306 CA10333380 |
129 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA10333341 rs759310306 |
134 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA412254738 rs1239292994 |
135 | H>Q | No |
ClinGen gnomAD |
|
|
rs377121115 CA10333340 |
135 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333339 rs770531744 |
136 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412254730 rs770531744 |
136 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10333338 rs748948652 |
138 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs772803319 CA10333337 |
139 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294385838 CA412254692 |
140 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10333336 rs769298046 |
140 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs747598379 CA412254687 |
141 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747598379 CA10333335 |
141 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333334 rs781706143 |
142 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10333332 rs747369959 |
144 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780441722 CA10333331 |
146 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760642265 CA10333330 |
147 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 148 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412254617 rs1472107801 |
148 | T>P | No |
ClinGen gnomAD |
|
|
CA10333326 rs753956169 |
150 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10333323 rs774064974 |
153 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412254551 rs1207730674 CA412254552 |
154 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762697293 CA10333321 |
155 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412254549 rs1328838458 |
155 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1195958782 CA412254536 |
157 | E>G | No |
ClinGen TOPMed |
|
|
CA412254540 rs1339277723 |
157 | E>K | No |
ClinGen gnomAD |
|
|
rs376221410 CA10333320 |
158 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333319 rs769422981 |
160 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10333317 rs201174652 |
163 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769089016 CA10333316 |
165 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA412254472 rs140800260 |
166 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412254470 rs780382071 CA10333314 |
167 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412253968 rs760098805 CA10333276 |
170 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412254446 rs1456298710 |
170 | M>K | No |
ClinGen gnomAD |
|
|
rs375620107 CA10333273 |
175 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771456500 CA10333274 |
175 | G>S | Variant assessed as Somatic; 9.362e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375620107 CA412253934 |
175 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486003745 CA412253929 |
176 | Y>C | No |
ClinGen gnomAD |
|
|
CA412253932 rs1205096700 |
176 | Y>H | No |
ClinGen gnomAD |
|
|
CA10333271 rs372852460 |
177 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182542397 CA412253916 |
178 | I>T | No |
ClinGen TOPMed |
|
|
rs1279889985 CA412253906 |
179 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1287570761 CA412253892 |
182 | G>R | No |
ClinGen gnomAD |
|
|
rs745832689 CA10333267 |
183 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA412253882 rs1413520264 |
184 | M>V | No |
ClinGen gnomAD |
|
|
CA10333266 rs778752851 |
186 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA412253854 rs1603451177 |
188 | S>A | No |
ClinGen Ensembl |
|
|
CA10333262 rs374915200 |
189 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182088071 CA412253841 |
190 | H>R | No |
ClinGen gnomAD |
|
|
rs376525707 CA10333260 |
191 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA325925618 rs374983355 |
192 | D>G | No |
ClinGen ESP TOPMed |
|
|
CA412253819 rs767159593 |
193 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333257 rs759244442 |
195 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333258 rs370486610 |
195 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412253805 rs763441049 CA412253806 |
196 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763441049 CA10333255 |
196 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270745122 CA412253799 |
197 | V>L | No |
ClinGen TOPMed |
|
|
CA412253792 rs1361145195 |
198 | G>A | No |
ClinGen TOPMed |
|
|
CA412253784 rs1455064127 |
199 | F>C | No |
ClinGen gnomAD |
|
|
CA10333253 rs186785499 |
199 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333252 rs748340482 |
200 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282382803 CA412253769 |
202 | N>T | No |
ClinGen gnomAD |
|
|
rs768723700 CA10333250 |
203 | H>L | No |
ClinGen ExAC TOPMed |
|
|
CA412253733 rs1446584534 |
207 | Q>E | No |
ClinGen gnomAD |
|
|
CA412253722 rs1191215240 |
208 | L>P | No |
ClinGen gnomAD |
|
|
rs373058035 CA10333249 |
210 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10333246 rs376360467 |
212 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1158958372 CA412253683 |
214 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1416539738 CA412253678 |
215 | P>S | No |
ClinGen gnomAD |
|
|
CA10333243 rs372629383 |
216 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412253672 rs1472476331 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412253670 rs1472476331 |
216 | R>L | No |
ClinGen gnomAD |
|
|
rs752429560 CA10333241 |
217 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752429560 CA412253665 |
217 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474726710 CA412253669 |
217 | P>T | No |
ClinGen TOPMed |
|
|
CA10333239 rs751109103 |
218 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772653957 CA10333237 |
218 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333238 rs751109103 |
218 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333234 rs765548049 |
219 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325925596 rs374923603 |
219 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10333235 rs750892989 |
219 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299255795 CA412253648 |
221 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10333233 rs769212788 |
221 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412253643 rs1364060583 |
222 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10333231 rs372242779 |
222 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333229 rs775518855 |
223 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs770955226 CA10333228 |
224 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412253628 rs1405353336 |
225 | K>E | No |
ClinGen gnomAD |
|
|
rs201956958 CA10333226 |
227 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333224 rs747895247 |
228 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11553051 COSM1319488 CA10333225 |
228 | S>P | ovary haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10333222 rs201432062 |
230 | P>L | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412253572 rs201432062 |
230 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333223 rs781049994 |
230 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779453219 CA10333220 |
231 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368558385 CA10333218 |
232 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765713718 CA10333217 |
232 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754194279 CA10333215 |
234 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA412253508 rs1436352118 |
236 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200707318 CA10333213 |
236 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412253499 rs1377817112 |
237 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1427832657 CA412253486 |
238 | L>I | No |
ClinGen gnomAD |
|
|
CA10333210 rs772076899 |
239 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10333208 rs373655683 |
241 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472814263 CA412253174 |
242 | E>D | No |
ClinGen gnomAD |
|
|
CA10333205 rs781111030 |
243 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333206 CA412253172 rs757537747 |
243 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA325923888 rs757537747 |
243 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256132169 CA412253161 |
244 | G>V | No |
ClinGen TOPMed gnomAD |
|
| rs1438753766 | 245 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10333202 rs779686422 |
245 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333201 rs757856870 |
246 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs779352888 CA10333199 |
247 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1351499025 CA412253131 |
248 | P>H | No |
ClinGen gnomAD |
|
|
rs1351499025 CA412253129 |
248 | P>L | No |
ClinGen gnomAD |
|
|
rs1164332414 CA412253111 |
250 | Q>H | No |
ClinGen TOPMed |
|
|
rs1408606785 CA412253114 |
250 | Q>R | No |
ClinGen gnomAD |
|
|
rs1370016223 CA412253102 |
251 | R>K | No |
ClinGen gnomAD |
|
|
rs754253340 CA412253074 |
253 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10333197 rs754253340 |
253 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764468316 CA10333196 |
253 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10333194 rs752867530 |
254 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759594201 CA10333192 |
256 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774486463 CA10333191 |
256 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200573747 CA10333189 |
257 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200573747 CA10333188 |
257 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412253010 rs1254987134 |
258 | E>G | No |
ClinGen gnomAD |
|
|
CA10333187 rs768576134 |
258 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771748500 CA10333184 |
261 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3424641 CA10333183 rs371067058 |
262 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335730183 CA412252912 |
263 | G>V | No |
ClinGen gnomAD |
|
|
rs756711690 CA10333181 |
264 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752524232 CA10333180 |
265 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333179 rs752524232 |
265 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412252884 rs1336248452 |
266 | G>E | No |
ClinGen gnomAD |
|
|
CA412252866 rs1458029109 |
267 | Q>H | No |
ClinGen gnomAD |
|
|
rs1390534482 CA412252856 |
268 | A>G | No |
ClinGen gnomAD |
|
|
COSM303878 CA10333174 rs767700543 |
269 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751681686 CA10333172 |
270 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1166843985 CA412252831 |
271 | E>A | No |
ClinGen gnomAD |
|
|
CA10333171 rs766596738 |
272 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA412252819 rs766596738 |
272 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs189405407 CA10333170 |
273 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412252802 rs1466015605 |
274 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776719021 CA10333169 |
275 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764106818 CA10333168 |
277 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA412252765 rs1247633241 |
278 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775321092 CA10333166 |
278 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333164 rs771674201 |
279 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10333163 rs745559816 |
280 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745559816 CA325923807 |
280 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412252746 rs1336901166 |
280 | T>S | No |
ClinGen TOPMed |
|
|
rs745559816 CA412252743 |
280 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333162 rs773839854 |
283 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367566396 CA412252726 |
283 | P>S | No |
ClinGen gnomAD |
|
|
rs748738761 CA10333160 |
284 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs369249838 CA10333159 |
285 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295213303 CA412252706 |
285 | P>S | No |
ClinGen gnomAD |
|
|
rs748504091 CA10333157 |
286 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10333156 rs200072902 |
287 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200795444 CA10333155 |
287 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412252679 rs1476102032 |
288 | L>F | No |
ClinGen gnomAD |
|
|
CA10333154 rs751810027 |
288 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA412252664 rs1190557208 |
289 | L>R | No |
ClinGen TOPMed |
|
|
rs1268580682 CA412252660 |
290 | E>* | No |
ClinGen gnomAD |
|
|
CA10333153 rs758604258 |
290 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758604258 CA10333152 |
290 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs201578500 CA10333150 |
292 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333151 rs201578500 |
292 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760635975 CA10333149 |
293 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333148 rs752530488 |
294 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA412252612 rs1192305850 |
295 | F>L | No |
ClinGen TOPMed |
|
|
rs770557949 CA10333144 |
296 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774006084 CA10333145 |
296 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774006084 CA10333146 |
296 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762518277 CA10333143 |
297 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1206736372 CA412252587 |
297 | L>V | No |
ClinGen gnomAD |
|
|
rs1467868871 CA412252576 |
298 | S>F | No |
ClinGen TOPMed |
|
|
rs1404868928 CA412252582 |
298 | S>P | No |
ClinGen TOPMed |
|
|
CA10333142 rs772680421 |
299 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs560764388 CA325923357 |
300 | G>S | No |
ClinGen gnomAD |
|
|
CA412252438 rs371287922 |
304 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333118 rs371287922 |
304 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772514021 CA10333117 |
306 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412252341 rs1435173074 |
311 | D>G | No |
ClinGen TOPMed |
|
|
CA412252349 rs779211999 |
311 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779211999 CA10333115 |
311 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 312 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412252263 rs1160422711 |
316 | E>K | No |
ClinGen gnomAD |
|
|
rs184913206 CA10333110 |
318 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA325923337 rs373877716 |
318 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs1348963405 CA412252215 |
319 | Q>* | No |
ClinGen TOPMed |
|
|
rs766190080 CA10333108 |
319 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230286748 CA412252144 |
322 | A>T | No |
ClinGen TOPMed |
|
|
CA412252137 rs1181969621 |
322 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10333105 rs764779992 |
325 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374233027 CA10333103 |
326 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10333104 rs761453325 |
326 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1283386089 CA412252055 |
329 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10333101 rs761284758 |
330 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761284758 CA412252033 |
330 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412252002 rs1164741098 |
331 | S>C | No |
ClinGen TOPMed |
|
|
CA10333100 rs769763402 |
332 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10333097 rs774692923 |
333 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448248303 CA412251959 |
334 | G>R | No |
ClinGen TOPMed |
|
|
CA10333096 rs771058943 |
335 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437653521 CA412251917 |
336 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA412251880 rs1176699595 |
338 | L>F | No |
ClinGen gnomAD |
|
|
CA412251882 rs1176699595 |
338 | L>V | No |
ClinGen gnomAD |
|
|
CA412251828 rs199605192 |
341 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333093 rs199605192 |
341 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333091 rs746950391 |
342 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746543072 CA325923296 |
343 | A>D | No |
ClinGen 1000Genomes |
|
|
CA412251789 rs1237619059 |
345 | M>T | No |
ClinGen gnomAD |
|
|
rs1161799600 CA412251759 |
346 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1489606795 CA412251715 |
349 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 350 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263834956 CA412251607 |
352 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs371324121 CA325922434 |
354 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10333058 rs371324121 |
354 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10333057 rs763316682 |
355 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10333056 rs369072361 |
356 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412250995 rs1156831835 |
358 | T>I | No |
ClinGen gnomAD |
|
|
CA412250999 rs1156831835 |
358 | T>R | No |
ClinGen gnomAD |
|
|
CA10333054 rs192867369 |
359 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768672853 CA10333051 |
361 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745822871 CA10333050 |
361 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs749097063 CA412250941 |
362 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333048 rs770646479 |
362 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256167702 CA412250937 |
363 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755797255 CA412250921 |
364 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755797255 CA10333045 |
364 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs35466875 CA10333046 |
364 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333043 rs780874073 |
367 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752017524 CA10333041 |
368 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs752017524 CA412250881 |
368 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA412250872 rs1372708911 |
369 | G>A | No |
ClinGen gnomAD |
|
|
rs754187862 CA10333040 |
369 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403606332 CA412250853 |
370 | E>G | No |
ClinGen gnomAD |
|
|
COSM1118185 rs192342338 CA10333037 |
370 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA325922399 rs200956226 |
372 | S>Y | No |
ClinGen Ensembl |
|
|
rs760753118 CA10333032 |
374 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10333029 rs199829721 |
375 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10333028 rs186665942 |
377 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10333027 rs773123553 |
378 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA412250768 rs773123553 |
378 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA412250742 rs1242179113 |
380 | N>D | No |
ClinGen gnomAD |
|
|
rs1465640241 CA412250670 |
385 | W>L | No |
ClinGen gnomAD |
|
|
CA412250658 rs1391234839 |
386 | N>T | No |
ClinGen TOPMed |
|
|
rs747837636 CA10333025 |
387 | L>F | No |
ClinGen ExAC |
|
|
rs1329717845 CA412250642 |
387 | L>P | No |
ClinGen TOPMed |
|
|
CA412250611 rs1385308996 |
390 | Y>* | No |
ClinGen TOPMed |
|
|
CA412250597 rs1328846643 |
392 | E>A | No |
ClinGen gnomAD |
|
|
CA10333024 rs780927311 |
393 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1316401329 CA412250570 |
394 | A>D | No |
ClinGen gnomAD |
|
|
rs536802259 CA325922386 |
396 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412250551 rs780461596 |
396 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333021 rs780461596 |
396 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10333020 rs758913550 |
399 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10333019 rs750880241 |
400 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs765620720 CA10333018 |
403 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs182376417 CA325922381 |
405 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10333016 rs202236916 |
405 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412250437 rs1569532745 |
406 | L>F | No |
ClinGen Ensembl |
|
|
rs1418793788 CA412250430 |
407 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775609047 CA10333013 |
407 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412250425 rs1376006572 |
408 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA412250407 rs1450477687 |
409 | K>T | No |
ClinGen gnomAD |
|
|
rs766276353 CA10333012 |
410 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375965839 CA412250372 |
412 | D>Y | No |
ClinGen gnomAD |
|
|
CA412250336 rs1198480928 |
415 | Q>R | No |
ClinGen gnomAD |
|
|
CA412249845 rs1439645082 |
416 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1439645082 CA412249841 |
416 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10332971 rs202198651 |
417 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332973 rs202198651 |
417 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412249831 rs1195512228 |
417 | A>P | No |
ClinGen gnomAD |
|
|
COSM1118113 rs202198651 CA10332972 |
417 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10332969 rs775269780 |
418 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1181777585 CA412249810 |
419 | Y>H | No |
ClinGen TOPMed |
|
|
CA10332968 rs771708871 |
420 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1443675291 CA412249786 |
421 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10332967 rs759088227 |
421 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs182910525 CA10332966 |
421 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332965 rs770380039 |
422 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10332963 rs778078906 |
423 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748450972 CA10332961 |
424 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA10332958 rs751778300 |
425 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759397218 CA10332959 |
425 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227165607 CA412249755 |
426 | L>P | No |
ClinGen TOPMed |
|
|
CA412249748 rs1245236548 |
427 | R>S | No |
ClinGen gnomAD |
|
|
rs780309584 CA10332957 |
427 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332953 rs756003059 |
429 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332955 CA412249738 rs753827758 |
429 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10332954 rs763923514 |
429 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759210384 CA10332951 |
430 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332950 COSM1118111 rs759210384 |
430 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752405433 CA10332952 |
430 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244918097 CA412249726 |
431 | A>V | No |
ClinGen gnomAD |
|
|
rs1471850327 CA412249720 |
432 | M>I | No |
ClinGen TOPMed |
|
|
rs200635810 CA10332949 |
432 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs11553052 CA412249708 |
434 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM457126 rs11553052 CA10332946 |
434 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1368399768 CA412249704 |
435 | M>L | No |
ClinGen TOPMed |
|
|
rs773830251 CA10332945 |
436 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA10332943 rs748592891 |
438 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776878267 CA10332942 |
440 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 441 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325921790 rs777105565 |
441 | C>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs777105565 CA412249663 |
441 | C>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
CA412249654 rs1299115848 |
442 | Q>H | No |
ClinGen TOPMed |
|
|
CA412249648 rs1343539349 |
443 | V>G | No |
ClinGen TOPMed |
|
|
CA10332939 rs780365064 |
444 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758606298 CA10332938 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745929353 CA10332937 |
445 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777808259 CA10332936 |
446 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1347558857 CA412249621 |
446 | A>V | No |
ClinGen TOPMed |
|
|
CA412249604 rs752631185 |
448 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332933 rs754705456 |
448 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 448 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754705456 CA10332932 |
448 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332934 rs752631185 |
448 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766005348 COSM1118110 CA412249563 |
451 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766005348 CA10332930 |
451 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332928 rs374117559 |
451 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10332929 rs374117559 |
451 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412249549 rs1318264881 |
452 | F>L | No |
ClinGen gnomAD |
|
|
CA412249543 rs1425308001 |
453 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412249528 rs201674322 |
455 | A>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10332924 rs201674322 COSM1118109 |
455 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
CA10332922 rs769154668 |
456 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369910848 CA10332919 |
457 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332920 rs200126226 |
457 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412249496 CA412249495 rs4503285 |
458 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4503285 VAR_054802 COSM3363918 CA10332917 |
458 | V>M | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10332864 rs367857010 |
460 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367857010 CA10332865 |
460 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748042013 CA10332915 |
460 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA412249379 rs1346426420 |
461 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10332862 rs374262459 |
462 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10332858 rs752132715 |
463 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10332856 rs200555637 |
465 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412249335 rs200555637 |
465 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332855 rs763465871 |
466 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10332854 rs763465871 |
466 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10332853 rs772014044 |
467 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332851 rs374328837 |
467 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200070508 CA10332850 |
468 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1345754765 CA412249318 |
468 | E>Q | No |
ClinGen TOPMed |
|
|
CA10332849 rs376215324 |
469 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412249297 rs1380280532 |
470 | A>D | No |
ClinGen gnomAD |
|
|
CA412249301 rs1248520517 |
470 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748954134 CA10332848 |
471 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10332847 rs187732189 |
471 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412249269 rs1418553157 |
473 | Y>D | No |
ClinGen gnomAD |
|
|
CA412249271 rs1418553157 |
473 | Y>H | No |
ClinGen gnomAD |
|
|
rs747693110 CA10332843 |
474 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332842 rs183969517 |
475 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191682412 CA10332841 |
475 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412249237 rs1254159530 |
476 | M>L | No |
ClinGen TOPMed |
|
|
CA412249238 rs1254159530 |
476 | M>V | No |
ClinGen TOPMed |
|
|
rs373001941 CA10332839 |
479 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768934149 CA10332838 |
480 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1224975667 CA412249166 |
482 | D>G | No |
ClinGen gnomAD |
|
|
CA10332835 rs765440047 |
482 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761919028 CA10332834 |
485 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs369348687 CA10332833 |
486 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764030032 CA10332832 |
487 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10332831 rs376727581 |
487 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1118049 CA10332829 rs5989854 |
488 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA412249084 rs1426640967 |
490 | A>P | No |
ClinGen gnomAD |
|
|
rs187264905 CA325921416 |
491 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374148730 CA10332827 |
491 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10332826 rs374148730 |
491 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10332825 rs187264905 |
491 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1168150372 CA412249041 |
493 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1438565027 CA412249022 |
495 | P>L | No |
ClinGen TOPMed |
|
|
CA412249023 rs1375208641 |
495 | P>S | No |
ClinGen gnomAD |
|
| rs1569532359 | 497 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10332818 rs1468589286 |
497 | G>R | No |
ClinGen TOPMed |
|
|
rs758826505 CA10332817 |
498 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10332815 rs779153945 |
499 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10332812 rs372399612 |
502 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412248948 rs1569532346 |
502 | Q>H | No |
ClinGen Ensembl |
|
|
rs372399612 CA10332813 |
502 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1410118513 CA412248943 |
503 | I>N | No |
ClinGen TOPMed |
|
|
CA412248945 rs1398223554 |
503 | I>V | No |
ClinGen TOPMed |
|
|
CA412248926 rs1249455425 |
505 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760614402 CA10332811 |
505 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA412248922 rs1217812777 |
506 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1455119086 CA412248911 |
507 | A>V | No |
ClinGen TOPMed |
|
|
CA10332780 rs377447226 CA10332779 |
509 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10332778 rs771384932 |
510 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs749612505 CA10332777 |
511 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1383963412 CA412247925 |
512 | R>K | No |
ClinGen gnomAD |
|
|
rs778099520 CA10332776 |
512 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1446325809 CA412247909 |
513 | D>E | No |
ClinGen gnomAD |
|
|
rs1340325924 CA412247906 |
514 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA412247905 rs1340325924 |
514 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372645960 CA10332774 |
515 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412247882 rs1158239688 |
516 | P>S | No |
ClinGen gnomAD |
|
|
CA10332772 rs781456589 |
517 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA412247876 rs781456589 |
517 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755046771 CA412247863 |
517 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750440145 CA10332770 |
518 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472344311 CA412247844 |
518 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370236045 CA10332769 |
519 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370236045 CA10332768 |
519 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412247822 rs1195309666 |
520 | L>P | No |
ClinGen gnomAD |
|
|
rs1195309666 CA412247819 |
520 | L>Q | No |
ClinGen gnomAD |
|
|
CA412247823 rs1423969331 |
520 | L>V | No |
ClinGen gnomAD |
|
|
CA412247797 rs187257264 |
522 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187257264 CA10332766 |
522 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332763 rs113135794 |
524 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201860146 CA10332761 |
525 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332762 rs759034778 |
525 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332760 rs771312814 |
526 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs79968027 CA412247690 |
528 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79968027 CA10332758 |
528 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748390215 CA10332756 |
529 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200490039 CA10332757 |
529 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412247655 rs1404532222 |
530 | W>C | No |
ClinGen gnomAD |
|
|
rs781546636 CA10332755 |
530 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755171738 CA412247646 |
531 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332754 rs755171738 |
531 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747051372 CA10332753 |
532 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412247622 rs1394210181 |
533 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 533 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10332751 rs376631232 |
533 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10332750 rs753767504 |
534 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs372291076 CA325918463 |
535 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA412247609 rs372291076 |
535 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763800490 CA10332749 |
536 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755845711 CA10332748 |
536 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10332747 rs1127297 VAR_054803 |
541 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767153190 CA10332746 |
542 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs371717238 CA10332744 |
543 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773705709 CA10332741 |
544 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773705709 CA10332742 |
544 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200400988 CA325918428 |
545 | S>T | No |
ClinGen Ensembl |
|
|
rs770300020 CA10332740 |
546 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1436095816 CA412247446 |
547 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762259896 CA10332739 |
548 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751190354 CA10332708 |
549 | G>E | No |
ClinGen ExAC |
|
|
CA412247412 CA412247411 rs1330596203 |
549 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776858991 CA325913668 |
550 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs370722223 CA10332704 |
551 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418669440 CA412246823 |
552 | L>R | No |
ClinGen gnomAD |
|
|
CA412246813 rs1164535606 |
554 | L>R | No |
ClinGen gnomAD |
|
|
rs764785568 CA10332702 |
555 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377119811 CA10332700 |
557 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214570469 CA412246793 |
558 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373167327 CA10332698 |
560 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10332695 rs775615546 |
563 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556651587 CA10332693 |
564 | R>S | No |
ClinGen Ensembl |
|
|
rs191726330 CA412246738 |
566 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10332692 rs191726330 |
566 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412246734 rs1398857933 |
567 | Q>* | No |
ClinGen gnomAD |
|
|
CA10332690 rs774425380 |
568 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332689 rs11553055 |
568 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412246727 rs774425380 |
568 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374787639 CA10332687 |
569 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10332686 rs768381423 |
570 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1603450026 CA412246718 |
570 | L>V | No |
ClinGen Ensembl |
|
|
rs1426445845 CA412246702 |
572 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10332684 rs779635128 |
575 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332682 rs745447572 |
576 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1485689712 CA412246677 |
576 | M>T | No |
ClinGen TOPMed |
|
|
CA10332683 rs758086365 |
576 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10332681 rs778599177 |
578 | V>A | No |
ClinGen ExAC |
|
|
rs756779979 CA10332680 CA412246657 |
579 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227929676 CA412246658 |
579 | Q>L | No |
ClinGen gnomAD |
|
|
CA10332679 rs754446994 |
581 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1217472690 CA412246643 |
582 | G>S | No |
ClinGen gnomAD |
|
|
CA10332678 rs764665192 |
583 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs753091031 CA10332676 |
584 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs756502646 CA10332677 |
584 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756502646 CA412246630 |
584 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10332674 rs190113249 |
585 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371220130 CA10332675 |
585 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412246615 rs1403012339 |
586 | S>R | No |
ClinGen gnomAD |
|
|
rs185265454 CA10332673 |
586 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371685612 CA10332671 |
589 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776587004 CA10332670 |
591 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1302318255 CA412246577 |
592 | C>Y | No |
ClinGen TOPMed |
|
|
CA412246570 rs1201248741 |
593 | L>S | No |
ClinGen gnomAD |
|
|
rs768630164 CA10332668 |
596 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746867040 CA10332667 |
597 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374227390 CA10332664 |
598 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10332665 rs374227390 |
598 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1276061381 CA412246009 |
599 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1330079383 CA412245978 |
601 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756867889 CA10332662 |
601 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA412245968 rs1307275928 |
602 | V>A | No |
ClinGen gnomAD |
|
|
CA412245947 rs1210116718 |
604 | V>M | No |
ClinGen TOPMed |
|
|
CA10332658 rs753076258 |
606 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1486591061 CA412245927 |
606 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10332657 rs767953762 |
609 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412245868 rs1464623390 |
611 | L>P | No |
ClinGen gnomAD |
|
|
rs1377275843 CA412245866 |
612 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755246663 CA10332655 |
613 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173912949 CA412245844 |
613 | A>V | No |
ClinGen TOPMed |
|
|
rs1603450013 CA412245838 |
614 | I>T | No |
ClinGen Ensembl |
|
|
rs1236188065 CA412245828 |
615 | L>V | No |
ClinGen gnomAD |
|
|
CA10332653 rs766552358 |
617 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs372842975 CA10332652 |
618 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 618 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412245796 rs1280653048 |
618 | K>R | No |
ClinGen gnomAD |
|
|
rs201299613 CA10332650 |
621 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10332649 rs113329185 |
622 | P>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1603450010 CA412245763 |
622 | P>G | No |
ClinGen Ensembl |
|
| TCGA novel | 622 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603450010 CA412245762 |
622 | P>R | No |
ClinGen Ensembl |
No associated diseases with O95671
4 regional properties for O95671
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aspartyl/asparaginy/proline hydroxylase | 591 - 745 | IPR007803 |
| domain | Aspartyl beta-hydroxylase/Triadin domain | 43 - 108 | IPR007943 |
| repeat | Tetratricopeptide repeat | 341 - 374 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 454 - 487 | IPR019734-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.1.9 | In phosphorus-containing anhydrides |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| dTTP diphosphatase activity | Catalysis of the reaction: dTTP + H2O = dTMP + H+ + diphosphate. |
| nucleoside triphosphate diphosphatase activity | Catalysis of the reaction: a nucleoside triphosphate + H2O = a nucleotide + H+ + diphosphate. |
| O-methyltransferase activity | Catalysis of the transfer of a methyl group to the oxygen atom of an acceptor molecule. |
| UTP diphosphatase activity | Catalysis of the reaction: UTP + H2O = UMP + H+ + diphosphate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| methylation | The process in which a methyl group is covalently attached to a molecule. |
| nucleotide metabolic process | The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLCPVIGKL | LHKRVVLASA | SPRRQEILSN | AGLRFEVVPS | KFKEKLDKAS | FATPYGYAME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TAKQKALEVA | NRLYQKDLRA | PDVVIGADTI | VTVGGLILEK | PVDKQDAYRM | LSRLSGREHS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VFTGVAIVHC | SSKDHQLDTR | VSEFYEETKV | KFSELSEELL | WEYVHSGEPM | DKAGGYGIQA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGGMLVESVH | GDFLNVVGFP | LNHFCKQLVK | LYYPPRPEDL | RRSVKHDSIP | AADTFEDLSD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VEGGGSEPTQ | RDAGSRDEKA | EAGEAGQATA | EAECHRTRET | LPPFPTRLLE | LIEGFMLSKG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLTACKLKVF | DLLKDEAPQK | AADIASKVDA | SACGMERLLD | ICAAMGLLEK | TEQGYSNTET |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ANVYLASDGE | YSLHGFIMHN | NDLTWNLFTY | LEFAIREGTN | QHHRALGKKA | EDLFQDAYYQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPETRLRFMR | AMHGMTKLTA | CQVATAFNLS | RFSSACDVGG | CTGALARELA | REYPRMQVTV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FDLPDIIELA | AHFQPPGPQA | VQIHFAAGDF | FRDPLPSAEL | YVLCRILHDW | PDDKVHKLLS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RVAESCKPGA | GLLLVETLLD | EEKRVAQRAL | MQSLNMLVQT | EGKERSLGEY | QCLLELHGFH |
| 610 | 620 | ||||
| QVQVVHLGGV | LDAILATKVA | P |