Q9NXH9
PR
Gene name |
TRMT1 |
Protein name |
tRNA (guanine(26)-N(2))-dimethyltransferase |
Names |
tRNA 2,2-dimethylguanosine-26 methyltransferase, tRNA(guanine-26,N(2)-N(2)) methyltransferase, tRNA(m(2,2)G26)dimethyltransferase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55621 |
EC number |
2.1.1.216: Methyltransferases |
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
2 structures for Q9NXH9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8D35 | X-ray | 190 A | C | 526-536 | PDB |
| AF-Q9NXH9-F1 | Predicted | AlphaFoldDB |
672 variants for Q9NXH9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2019321826 RCV001262708 |
105 | K>missing | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868289171 RCV002496975 RCV000513415 |
130 | K>missing | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760427 CA305531815 RCV001330363 rs1006351159 |
195 | R>W | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000754765 rs746572548 |
219 | Q>missing | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330364 CA9237921 rs759911177 |
272 | T>A | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001330361 RCV002546386 CA9237788 rs753225455 |
360 | G>S | Intellectual developmental disorder, autosomal recessive 68 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1203487591 RCV000754767 |
445 | Y>missing | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2018949082 RCV001265910 |
477 | S>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA404308596 RCV001293634 rs751298016 |
512 | R>* | Intellectual developmental disorder, autosomal recessive 68 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9237500 RCV000895071 rs151119204 RCV002540130 |
593 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA404321710 rs1200038727 |
2 | Q>K | No |
ClinGen TOPMed |
|
|
CA9238187 rs763950252 |
2 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA9238186 rs762883978 |
3 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404321664 rs1469081381 |
4 | S>* | No |
ClinGen TOPMed |
|
|
rs1469081381 CA404321661 |
4 | S>L | No |
ClinGen TOPMed |
|
|
CA404321634 rs1351426050 |
6 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs770498874 CA9238181 |
7 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA404321616 rs1357887994 |
7 | W>C | No |
ClinGen gnomAD |
|
|
rs776239119 CA9238182 |
7 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305533560 rs369139510 |
9 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772724820 CA9238179 |
9 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9238180 rs369139510 |
9 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769070519 CA9238178 |
10 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9238175 rs780328802 |
12 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404321493 rs1163975540 |
14 | S>C | No |
ClinGen gnomAD |
|
|
CA404321476 rs1444324564 |
15 | A>V | No |
ClinGen TOPMed |
|
|
CA404321467 rs1259488267 |
16 | R>Q | No |
ClinGen gnomAD |
|
|
CA404321455 rs1485253492 |
17 | V>M | No |
ClinGen gnomAD |
|
|
rs1568377401 CA404321438 |
18 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9238172 rs781550776 |
18 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404321408 rs1217412089 |
19 | S>P | No |
ClinGen gnomAD |
|
|
CA9238171 rs757496131 |
20 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs879100182 CA305533495 |
20 | R>S | No |
ClinGen Ensembl |
|
|
rs751595932 CA9238170 |
22 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404321359 rs1231805631 |
22 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404321364 rs751595932 |
22 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777869854 CA404321307 |
24 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758292388 CA9238168 |
25 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs373671146 CA9238166 |
29 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9238165 rs759324962 |
30 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA9238162 rs766037892 |
32 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1165328398 CA404321145 |
33 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1165328398 CA404321141 |
33 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA305533427 rs953177615 |
36 | A>G | No |
ClinGen Ensembl |
|
|
rs895019365 CA305533419 |
37 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA305533417 rs757831433 |
38 | E>G | No |
ClinGen Ensembl |
|
|
CA404321074 rs1416704464 |
39 | N>D | No |
ClinGen gnomAD |
|
|
CA9238160 rs771586858 |
39 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185181908 CA404321055 |
40 | G>D | No |
ClinGen TOPMed |
|
|
rs763406970 CA9238158 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9238156 rs200648030 |
42 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370421348 CA9238154 |
43 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746248089 CA9238155 |
43 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1298440947 CA404321013 |
44 | Y>* | No |
ClinGen gnomAD |
|
|
rs1450660246 CA404321017 |
44 | Y>C | No |
ClinGen gnomAD |
|
|
rs1306293654 CA404321020 |
44 | Y>D | No |
ClinGen gnomAD |
|
|
CA404320989 rs1229193642 |
46 | E>G | No |
ClinGen gnomAD |
|
|
CA404320980 rs1411584343 |
47 | E>K | No |
ClinGen TOPMed |
|
|
CA9238153 rs771309833 |
48 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA404320967 rs771309833 |
48 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9238152 rs777766914 |
50 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9238151 rs777766914 |
50 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA404320922 rs1392536280 |
52 | V>D | No |
ClinGen gnomAD |
|
|
CA404320927 rs1443401940 |
52 | V>I | No |
ClinGen gnomAD |
|
|
rs1461336651 CA404320907 |
54 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1352658393 CA404320891 |
55 | T>A | No |
ClinGen gnomAD |
|
|
CA305533379 rs1020257638 |
56 | T>A | No |
ClinGen Ensembl |
|
|
CA404320874 rs1170480464 |
56 | T>I | No |
ClinGen gnomAD |
|
|
rs748103642 CA9238149 |
57 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758792485 CA9238147 |
58 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758792485 CA404320862 |
58 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337934924 CA404320850 |
59 | E>* | No |
ClinGen TOPMed |
|
|
rs1216817113 CA404320831 |
60 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268433114 CA404320836 |
60 | G>R | No |
ClinGen gnomAD |
|
|
CA9238144 rs755767821 |
61 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404320826 rs755767821 |
61 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750058561 CA9238143 |
61 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404320812 rs761371515 |
62 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767001379 CA9238142 |
62 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404320818 rs767001379 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761371515 CA9238141 |
62 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404320796 rs1347173651 |
64 | I>L | No |
ClinGen gnomAD |
|
|
CA404320762 rs1236725260 |
66 | F>L | No |
ClinGen gnomAD |
|
|
rs765843760 CA9238139 |
67 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305533298 rs887876144 |
67 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404320749 rs1433495413 |
68 | S>C | No |
ClinGen gnomAD |
|
|
CA404320720 rs777158852 CA9238137 |
70 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs139000025 CA9238138 |
70 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404320710 rs1430335924 |
72 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771306950 CA9238136 |
75 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9238134 rs376262188 |
76 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9238135 rs376262188 |
76 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404320663 rs1467179476 |
77 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9238131 rs778901794 |
81 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9238130 rs754927342 |
83 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404320566 rs1254438471 |
85 | T>A | No |
ClinGen gnomAD |
|
|
CA9238113 rs761986498 |
86 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1599964467 CA404320514 |
86 | C>Y | No |
ClinGen Ensembl |
|
|
CA9238111 rs768687163 |
91 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305532994 rs148321811 |
92 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539180932 CA305532988 |
93 | A>S | No |
ClinGen TOPMed |
|
|
rs1230320407 CA404320436 |
93 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780025913 CA9238109 |
94 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1340482117 CA404320382 |
96 | Q>R | No |
ClinGen gnomAD |
|
|
CA404320361 rs1356520279 |
97 | L>P | No |
ClinGen gnomAD |
|
|
rs1321620467 CA404320354 |
98 | G>R | No |
ClinGen TOPMed |
|
|
CA404320340 rs1317064902 |
99 | A>T | No |
ClinGen gnomAD |
|
|
CA404320291 rs1599964071 |
101 | G>V | No |
ClinGen Ensembl |
|
|
CA404320286 rs1390360061 |
102 | I>F | No |
ClinGen gnomAD |
|
|
CA404320289 rs1390360061 |
102 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1320887970 CA404320259 |
103 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305532513 rs1002184580 |
105 | K>E | No |
ClinGen Ensembl |
|
|
rs1238705626 CA404319382 |
106 | V>F | No |
ClinGen gnomAD |
|
|
rs1372961344 CA404319357 |
108 | G>E | No |
ClinGen TOPMed |
|
|
CA404319348 rs1446089679 |
109 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404319314 rs765424636 |
110 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330337067 CA404319281 |
112 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1293149489 CA404319256 |
114 | K>E | No |
ClinGen gnomAD |
|
|
CA9238052 rs776717339 |
115 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9238053 rs143246127 |
115 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305532461 rs1045835145 |
117 | V>A | No |
ClinGen Ensembl |
|
|
CA9238051 rs766426024 |
117 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760652660 CA9238050 |
118 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1013306501 CA305532435 |
120 | S>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 120 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404319179 rs1483357479 |
122 | Q>H | No |
ClinGen TOPMed |
|
|
rs1322882967 CA404319166 |
123 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9238048 rs771974099 |
126 | K>R | No |
ClinGen ExAC |
|
|
rs1163906027 CA404319107 |
127 | V>I | No |
ClinGen gnomAD |
|
|
rs201402807 CA305532391 |
128 | E>G | No |
ClinGen 1000Genomes |
|
|
CA404319072 rs1422020840 |
129 | L>P | No |
ClinGen gnomAD |
|
|
rs1181918264 CA404319030 |
131 | E>D | No |
ClinGen gnomAD |
|
|
CA305532389 rs897550828 |
134 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404318963 rs1210274861 |
136 | A>V | No |
ClinGen gnomAD |
|
|
rs951896449 CA305532386 |
138 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 139 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219940725 CA404318885 |
142 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1026391303 CA305532352 |
143 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs370193967 CA9238045 |
143 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404318860 rs1363187627 |
144 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404318833 rs1380268139 |
146 | V>A | No |
ClinGen TOPMed |
|
|
rs1380268139 CA404318838 |
146 | V>G | No |
ClinGen TOPMed |
|
|
CA404318822 rs1279696603 |
147 | G>W | No |
ClinGen TOPMed |
|
|
rs1599960454 CA404318802 |
148 | E>G | No |
ClinGen Ensembl |
|
|
CA404318775 rs1389052342 |
150 | C>Y | No |
ClinGen gnomAD |
|
|
rs1273134273 CA404318679 |
152 | E>A | No |
ClinGen gnomAD |
|
|
CA305532009 rs990638321 |
152 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404318663 rs778241553 |
153 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9238020 rs778241553 |
153 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9238018 rs748467610 |
155 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376424264 CA9238019 |
155 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404318633 rs1460665906 |
156 | V>M | No |
ClinGen TOPMed |
|
|
CA404318614 rs1341919371 |
157 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1268499037 CA404318560 |
161 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1268499037 CA404318558 |
161 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1372782176 CA404318550 |
162 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 163 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9238015 rs754093709 |
166 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754093709 CA404318496 |
166 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768440612 CA9238014 |
166 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001742392 CA305531924 |
168 | I>V | No |
ClinGen Ensembl |
|
|
CA305531898 rs756246074 COSM1390714 |
169 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs985143890 CA305531896 |
169 | R>P | No |
ClinGen TOPMed |
|
|
rs985143890 CA404318450 |
169 | R>Q | No |
ClinGen TOPMed |
|
|
CA404318429 rs1344491104 |
171 | A>T | No |
ClinGen gnomAD |
|
|
rs750468996 CA9238012 |
172 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404318402 rs1235720255 |
174 | V>M | No |
ClinGen gnomAD |
|
|
rs1301740314 CA404318367 |
176 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs994323880 CA305531883 |
177 | L>F | No |
ClinGen TOPMed |
|
|
rs1409036144 CA404318345 |
178 | R>K | No |
ClinGen gnomAD |
|
|
rs897296191 CA305531860 |
179 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 179 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559922059 CA404318268 |
183 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183720458 CA404318263 |
184 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1183720458 CA404318265 |
184 | D>N | No |
ClinGen TOPMed |
|
|
rs1325348015 CA404318245 |
185 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762553420 CA9238007 |
186 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762553420 CA9238009 |
186 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9238008 rs762553420 |
186 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759061439 CA9238004 |
188 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769353223 CA9238005 |
188 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442486910 CA404318204 |
189 | A>P | No |
ClinGen gnomAD |
|
|
CA305531826 rs966091117 |
190 | V>M | No |
ClinGen TOPMed |
|
|
CA404318153 rs1183611626 |
193 | I>L | No |
ClinGen gnomAD |
|
|
rs143006157 CA9238003 |
194 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9238002 rs772489089 |
194 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9238001 rs201203784 |
195 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9238000 rs779197518 |
201 | D>G | No |
ClinGen ExAC |
|
|
CA404318022 rs1227547282 |
202 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA305531791 rs953545097 |
203 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1599958972 CA404317990 |
204 | H>P | No |
ClinGen Ensembl |
|
|
CA404317979 rs1290073278 |
205 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9237998 rs749574919 |
206 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237997 rs780432685 |
208 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237995 rs745973789 |
211 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319556485 CA404317881 |
212 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404317882 rs1319556485 |
212 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9237992 rs751482306 |
214 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148560960 CA9237993 |
214 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302568889 CA404317431 |
215 | M>I | No |
ClinGen gnomAD |
|
|
rs764969185 CA9237971 |
217 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359455646 CA404317381 |
218 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs202212823 CA305529849 |
218 | Y>H | No |
ClinGen 1000Genomes |
|
|
CA404317365 rs754662747 |
219 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149435564 CA9237969 |
220 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765860745 CA9237967 |
221 | Q>P | No |
ClinGen ExAC |
|
|
CA9237966 rs371933852 |
222 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237964 rs764724080 |
223 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9237965 rs772542270 |
223 | V>L | No |
ClinGen ExAC |
|
|
rs763516430 CA9237963 |
224 | S>A | No |
ClinGen ExAC |
|
|
CA404317294 rs1436188067 |
224 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749720918 CA9237959 |
226 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237958 rs770991728 |
226 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404317257 rs1166772264 |
229 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1172274431 CA404317240 |
231 | D>G | No |
ClinGen gnomAD |
|
|
rs780536551 CA9237955 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305529710 rs995506289 |
234 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772025702 COSM129919 CA9237954 |
235 | Y>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 237 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404317204 rs1599952115 |
237 | S>G | No |
ClinGen Ensembl |
|
|
CA305529694 rs571762116 |
237 | S>I | No |
ClinGen gnomAD |
|
|
CA9237953 rs748043869 |
237 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA305529670 rs1019697258 |
238 | P>R | No |
ClinGen Ensembl |
|
|
rs898525936 CA305529685 |
238 | P>T | No |
ClinGen TOPMed |
|
|
rs956920396 CA305529667 |
240 | T>I | No |
ClinGen Ensembl |
|
|
CA9237952 rs778726119 |
240 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218281263 CA404317172 |
243 | D>N | No |
ClinGen gnomAD |
|
|
rs753496987 CA404317154 |
245 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237950 rs753496987 |
245 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9237949 rs779774246 |
248 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA404317132 rs1276995867 |
248 | A>T | No |
ClinGen gnomAD |
|
|
CA404317110 rs1337453574 |
250 | S>I | No |
ClinGen TOPMed |
|
|
rs1350376463 CA404317100 |
251 | E>K | No |
ClinGen gnomAD |
|
|
CA404317066 rs1394618098 |
253 | G>R | No |
ClinGen gnomAD |
|
|
CA305529554 rs772223029 |
253 | G>V | No |
ClinGen Ensembl |
|
|
CA9237936 rs547654020 |
254 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305529546 rs1004441988 |
255 | L>Q | No |
ClinGen TOPMed |
|
|
rs1445959216 CA404316863 |
262 | M>I | No |
ClinGen gnomAD |
|
|
rs772113572 CA9237933 |
263 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs79007287 CA9237930 |
264 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9237931 rs778813968 |
264 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9237928 rs779676694 |
265 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA9237927 rs755833006 |
266 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1471556836 CA404316780 |
267 | G>E | No |
ClinGen gnomAD |
|
|
CA305529402 rs549612555 |
270 | G>E | No |
ClinGen 1000Genomes |
|
|
CA9237923 rs564893039 |
270 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404316684 rs1461226245 |
271 | E>G | No |
ClinGen TOPMed |
|
|
rs1164978899 CA404316700 |
271 | E>K | No |
ClinGen TOPMed |
|
|
rs1461226245 CA404316683 |
271 | E>V | No |
ClinGen TOPMed |
|
|
CA305529377 rs908194065 |
272 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404316667 rs1318010672 |
273 | C>G | No |
ClinGen gnomAD |
|
|
rs766620074 CA9237919 |
274 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9237918 rs761003854 |
275 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014569241 CA305529303 |
278 | G>E | No |
ClinGen Ensembl |
|
|
CA305529314 rs921698346 |
278 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404316487 rs1317307098 |
280 | M>V | No |
ClinGen TOPMed |
|
|
rs761882120 CA9237914 |
285 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200953948 CA9237913 |
285 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455199775 CA404316358 |
286 | A>P | No |
ClinGen gnomAD |
|
|
rs776518973 CA9237889 |
291 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9237886 rs777390124 |
295 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404314440 rs777390124 |
295 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237884 rs757830350 |
298 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs148038210 CA9237882 |
302 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9237881 rs79724100 |
302 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404314259 rs143587789 |
303 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237879 rs143587789 |
303 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148910055 CA9237878 |
304 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751770404 CA9237877 |
304 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs762948211 CA9237875 |
307 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375601884 CA9237874 |
308 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404314168 rs375601884 |
308 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs889400919 CA305524826 |
308 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs889400919 CA404314164 |
308 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1227737625 CA404314158 |
309 | F>V | No |
ClinGen gnomAD |
|
|
CA9237871 rs569347918 |
310 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9237872 rs569347918 |
310 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1208523013 CA404314139 |
311 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1401035224 CA404314126 |
312 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 315 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9237869 rs370706589 |
316 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235968933 CA404314073 |
317 | S>G | No |
ClinGen TOPMed |
|
|
CA305524785 rs997734630 |
318 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1471913791 CA404314048 |
319 | D>N | No |
ClinGen gnomAD |
|
|
rs1366096194 CA404314033 |
320 | F>I | No |
ClinGen gnomAD |
|
|
CA9237866 rs771685030 |
321 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770330849 CA9237864 |
322 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770330849 CA9237863 |
322 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs542184779 CA236009 RCV000171278 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1462452687 CA404313993 |
323 | R>H | No |
ClinGen gnomAD |
|
|
CA9237862 rs781598456 |
327 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762498716 CA9237861 |
327 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762498716 CA404313951 |
327 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237859 rs777871468 |
330 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237856 rs765328885 |
331 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404313855 rs1295628528 |
335 | V>F | No |
ClinGen TOPMed |
|
|
CA404313841 rs1159716536 |
336 | K>R | No |
ClinGen gnomAD |
|
|
CA9237850 rs371330887 |
337 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546559796 CA9237849 |
339 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9237807 rs775021722 |
341 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764704685 CA9237806 |
341 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9237805 rs146440296 |
343 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237804 rs146440296 |
343 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404313688 rs1599941759 |
344 | L>P | No |
ClinGen Ensembl |
|
|
CA9237802 rs748556384 |
345 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA404313677 rs748556384 |
345 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9237800 rs771096015 |
348 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771096015 CA404313646 |
348 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749503049 CA9237799 |
349 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1224687888 CA404313623 |
350 | G>S | No |
ClinGen gnomAD |
|
|
rs745871955 CA9237796 |
352 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9237797 rs201563082 CA404313588 |
352 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1333832734 CA404313550 |
353 | A>G | No |
ClinGen gnomAD |
|
|
rs781204470 CA9237795 |
353 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305524263 rs577516105 |
354 | F>V | No |
ClinGen Ensembl |
|
|
CA404313520 rs1599941518 |
355 | H>P | No |
ClinGen Ensembl |
|
|
rs1040565037 CA305524256 |
356 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9237793 rs751387606 |
358 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237792 rs199649364 |
358 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9237787 rs753225455 |
360 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237786 rs768086861 |
362 | A>V | Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774894055 CA9237784 |
363 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769132259 CA9237783 |
364 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9237782 rs763336047 |
365 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs763336047 CA404313307 |
365 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA404313282 rs1225533183 |
366 | P>L | No |
ClinGen gnomAD |
|
|
CA404313302 rs1282838955 |
366 | P>S | No |
ClinGen gnomAD |
|
|
CA404313257 rs1433006766 |
367 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404313223 rs1450750152 |
368 | G>D | No |
ClinGen gnomAD |
|
|
rs201358628 CA9237779 |
368 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770943164 CA9237777 |
369 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781092965 CA9237778 |
369 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770901684 CA9237757 |
370 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234850787 CA404313009 |
372 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1202644421 CA404313018 |
372 | F>Y | No |
ClinGen TOPMed |
|
|
CA404312986 rs1599940545 |
374 | A>T | No |
ClinGen Ensembl |
|
|
rs1417837436 CA404312962 |
374 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404312876 rs1188760158 |
378 | P>L | No |
ClinGen gnomAD |
|
|
rs868472319 CA305523984 |
378 | P>S | No |
ClinGen TOPMed |
|
|
rs868472319 CA404312892 |
378 | P>T | No |
ClinGen TOPMed |
|
|
rs1026546819 CA305523975 |
379 | P>L | No |
ClinGen TOPMed |
|
|
rs1568365441 CA404312844 |
380 | V>M | No |
ClinGen Ensembl |
|
|
CA404312801 rs1166307275 |
382 | P>H | No |
ClinGen TOPMed |
|
|
CA404312789 rs377647271 |
383 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377647271 COSM565174 CA9237753 |
383 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377647271 CA9237752 |
383 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447001009 CA783425650 |
384 | C>* | No |
ClinGen TOPMed |
|
|
rs1306665426 CA404312760 |
385 | E>K | No |
ClinGen gnomAD |
|
| rs756963751 | 387 | C>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562695975 CA9237750 |
388 | G>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs1362555165 CA404312683 |
389 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA404312663 rs1402479694 |
390 | R>* | No |
ClinGen gnomAD |
|
|
CA305523870 rs200029991 |
390 | R>Q | No |
ClinGen gnomAD |
|
|
rs755782799 CA9237727 |
394 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA404312491 rs1178009468 |
394 | G>R | No |
ClinGen gnomAD |
|
|
CA404312482 rs1435142741 |
395 | G>D | No |
ClinGen TOPMed |
|
|
CA305523684 rs932030687 |
395 | G>S | No |
ClinGen Ensembl |
|
|
CA9237726 rs201235025 |
397 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9237725 rs780818695 |
398 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA404312381 COSM3796671 rs1263756312 |
400 | E>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs367729363 CA9237724 |
400 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 400 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375036527 CA9237723 |
401 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237722 rs375036527 |
401 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391645283 CA404312267 |
404 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755300048 CA9237721 |
404 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755300048 CA404312289 |
404 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305523641 rs868782885 |
408 | V>L | No |
ClinGen Ensembl |
|
|
CA404312174 rs1335116781 |
409 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9237720 rs754172388 |
409 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147243880 CA9237717 |
410 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237718 rs147243880 |
410 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237716 rs143782952 |
410 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404312165 rs147243880 |
410 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237714 rs774163132 |
411 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs919222213 CA305523546 |
413 | E>K | No |
ClinGen TOPMed |
|
|
rs768583406 CA9237713 |
414 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138303657 CA305523518 |
415 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs769611083 CA9237709 |
417 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204509034 CA404311994 |
418 | N>K | No |
ClinGen gnomAD |
|
|
CA9237707 rs574964671 |
420 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9237706 rs756824789 |
421 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756058154 CA305523477 |
421 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1001975950 CA305523472 |
422 | F>L | No |
ClinGen Ensembl |
|
|
rs746460327 CA9237705 |
422 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1248536987 CA404311911 |
423 | H>R | No |
ClinGen gnomAD |
|
|
rs1178656524 CA404311890 |
424 | T>I | No |
ClinGen gnomAD |
|
|
CA9237704 rs149382637 |
425 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1232466832 CA404311877 |
426 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1203339062 CA404311865 |
427 | R>Q | No |
ClinGen gnomAD |
|
|
rs1381050160 CA404311867 |
427 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1387820701 CA404311840 |
428 | I>M | No |
ClinGen gnomAD |
|
|
rs368153051 CA9237702 |
429 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404311832 rs780362420 |
429 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780362420 CA9237701 |
429 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404311800 rs756372792 |
431 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237700 rs756372792 |
431 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446182868 CA404311775 |
432 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs374806942 CA9237698 |
433 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404311744 rs761813897 |
433 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237696 rs751613445 |
434 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237695 rs763972744 |
435 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1361799684 CA404311718 |
435 | I>T | No |
ClinGen TOPMed |
|
|
rs1490044571 CA404311702 |
436 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs150358822 CA9237668 |
440 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9237667 rs150358822 |
440 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404311452 rs746267277 |
441 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167531125 CA404311464 |
441 | D>H | No |
ClinGen TOPMed |
|
|
CA404311429 rs1179254053 |
442 | V>A | No |
ClinGen gnomAD |
|
|
CA9237664 rs781593889 |
442 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990378337 CA305523164 |
443 | P>L | No |
ClinGen Ensembl |
|
|
CA404311421 rs1439883008 |
443 | P>S | No |
ClinGen gnomAD |
|
|
rs777783486 CA9237661 |
447 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA404311326 rs1599937367 |
447 | T>P | No |
ClinGen Ensembl |
|
|
rs758558211 CA9237660 |
448 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404311279 rs1277951658 |
449 | D>E | No |
ClinGen gnomAD |
|
|
rs140388340 CA9237659 |
449 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237658 rs765286564 |
450 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754926226 CA9237657 |
453 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753726098 CA9237656 |
454 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1249250829 CA404311147 |
455 | I>V | No |
ClinGen TOPMed |
|
|
CA9237654 rs760299587 |
456 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178142160 CA404311090 |
457 | C>F | No |
ClinGen gnomAD |
|
|
rs1414496116 CA404311060 |
458 | N>Y | No |
ClinGen gnomAD |
|
|
rs772910189 CA9237653 |
461 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404310950 rs1482333064 |
462 | L>F | No |
ClinGen gnomAD |
|
|
rs767009382 CA9237652 |
462 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305523044 rs570842621 |
463 | L>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1380594588 CA404310895 |
464 | Q>H | No |
ClinGen gnomAD |
|
|
rs1599936965 CA404310867 |
465 | L>F | No |
ClinGen Ensembl |
|
|
CA9237649 rs770329038 |
466 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA9237650 rs770329038 |
466 | R>Q | No |
ClinGen ExAC |
|
|
rs144887143 CA9237651 COSM991581 |
466 | R>W | Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1401241989 CA404309424 |
467 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA404309419 rs1401241989 |
467 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404309417 rs1302095458 |
468 | A>T | No |
ClinGen gnomAD |
|
|
CA9237630 rs760103686 |
468 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771286220 CA9237628 |
469 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404309389 rs1409818826 |
470 | L>F | No |
ClinGen gnomAD |
|
|
CA404309358 rs1478167355 |
472 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404309363 rs1196483982 |
472 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1478167355 CA404309355 |
472 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA305521022 rs987103804 |
475 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs904158240 CA305521034 |
475 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 478 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221950319 CA404309245 |
480 | H>R | No |
ClinGen gnomAD |
|
|
CA404309250 rs1266331854 |
480 | H>Y | No |
ClinGen gnomAD |
|
|
rs199966233 CA305520988 |
481 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 482 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404309216 rs1341094248 |
482 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs921891611 CA305520971 |
485 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9237625 COSM438657 rs772461605 |
488 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779187694 CA404309106 |
489 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779187694 CA9237623 |
489 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173328877 CA404309083 |
490 | A>T | No |
ClinGen gnomAD |
|
|
CA404309051 rs768848203 |
491 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237622 rs768848203 |
491 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404309063 rs1429277623 |
491 | P>S | No |
ClinGen gnomAD |
|
|
CA404309016 rs1568361101 |
493 | S>C | No |
ClinGen Ensembl |
|
|
CA404309001 rs1268251724 |
494 | A>T | No |
ClinGen gnomAD |
|
|
CA305520924 rs968984822 |
499 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1042996697 CA305520919 |
500 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755967021 COSM1390712 CA9237619 |
500 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755967021 CA404308849 |
500 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755967021 CA404308852 |
500 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221083516 CA404308824 |
502 | W>* | No |
ClinGen gnomAD |
|
|
CA9237618 rs750275315 |
502 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA404308828 rs1262501152 |
502 | W>R | No |
ClinGen gnomAD |
|
|
CA404308712 rs35206121 |
503 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114542979 RCV000911705 CA9237604 |
505 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404308663 rs1398275706 |
506 | C>* | No |
ClinGen gnomAD |
|
|
CA404308669 rs1335272783 |
506 | C>Y | No |
ClinGen gnomAD |
|
|
CA9237603 rs749406069 |
507 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749406069 CA305520786 |
507 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305520785 rs749406069 |
507 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364283530 CA404308644 |
508 | V>A | No |
ClinGen gnomAD |
|
|
CA305520778 rs964674780 |
508 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1362615155 CA404308634 |
509 | K>R | No |
ClinGen gnomAD |
|
|
rs1362615155 CA404308633 |
509 | K>T | No |
ClinGen gnomAD |
|
|
rs781032710 CA9237600 |
510 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237599 COSM2149938 rs781032710 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769822915 CA9237601 |
510 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237598 rs757050803 |
511 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs751298016 CA9237597 |
512 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs777428290 CA9237596 |
512 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1203970264 CA404308569 |
514 | S>P | No |
ClinGen gnomAD |
|
|
rs1487032199 CA404308542 |
515 | E>Q | No |
ClinGen gnomAD |
|
|
rs375527682 CA9237595 |
517 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404308473 rs375527682 |
517 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404308442 rs1358340441 |
519 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA305520684 rs900109858 |
521 | R>C | Variant assessed as Somatic; 4.8e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9237592 rs761298127 |
521 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1275654808 CA404308387 |
522 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 523 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9237591 rs750961127 |
524 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs768069805 CA9237590 |
527 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394235910 CA404306862 |
532 | N>K | No |
ClinGen TOPMed |
|
|
rs985739734 CA305518669 |
535 | I>N | No |
ClinGen Ensembl |
|
|
CA404306806 rs1342990427 |
535 | I>V | No |
ClinGen gnomAD |
|
|
CA305518654 rs376903135 |
536 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1234202486 CA404306791 |
536 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404306793 rs376903135 |
536 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1025444761 CA305518643 |
539 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 541 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757797172 CA9237567 |
542 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9237564 rs763302328 |
544 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404306622 rs1422482693 |
544 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765445061 CA404306569 |
546 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237562 rs765445061 |
546 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362919573 COSM3822049 CA404306551 |
546 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1199249818 CA404306471 |
549 | K>N | No |
ClinGen TOPMed |
|
|
rs759637863 CA9237560 |
550 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs776654654 CA9237559 |
550 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404306455 rs776654654 |
550 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469163552 CA404306422 |
551 | F>L | No |
ClinGen gnomAD |
|
|
CA9237558 rs746923736 |
553 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9237557 rs746923736 |
553 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404306350 rs1201168238 |
554 | N>S | No |
ClinGen gnomAD |
|
|
CA305518565 rs773045467 |
555 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773045467 CA9237556 |
555 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237553 rs778442767 |
558 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754609070 CA9237552 |
559 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145807038 CA9237551 |
561 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145807038 CA404306229 |
561 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149836806 CA404306221 |
562 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237549 rs757899243 |
562 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237550 rs149836806 |
562 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9237548 rs752108828 |
563 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237547 rs764595962 |
564 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1183421209 CA404306179 |
565 | A>S | No |
ClinGen gnomAD |
|
|
rs1472090828 CA404306176 |
565 | A>V | No |
ClinGen gnomAD |
|
|
CA404306173 rs1599920481 |
566 | R>Q | No |
ClinGen Ensembl |
|
|
CA9237546 rs758707239 |
566 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765411276 CA9237544 |
567 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs765411276 CA9237545 |
567 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs966790141 CA305518511 |
568 | G>E | No |
ClinGen TOPMed |
|
|
rs1284083303 CA404306157 |
568 | G>R | No |
ClinGen gnomAD |
|
|
rs1046604945 CA305518270 |
569 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1165974315 CA404306036 |
570 | K>M | No |
ClinGen gnomAD |
|
|
CA404306016 rs1465542223 |
571 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760757790 CA9237519 |
572 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237516 rs761776581 |
573 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305518216 rs374230669 |
573 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1568355780 CA404305978 |
574 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 576 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774073296 CA9237514 |
576 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA404305954 rs1489613206 |
576 | M>V | No |
ClinGen gnomAD |
|
|
CA404305925 rs1307804255 |
578 | E>Q | No |
ClinGen TOPMed |
|
|
rs1356453831 CA404305919 |
578 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 580 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929455090 CA305518137 |
580 | R>G | No |
ClinGen TOPMed |
|
|
rs918376887 CA305518106 |
580 | R>H | No |
ClinGen Ensembl |
|
|
CA404305895 rs1487317342 |
581 | R>W | No |
ClinGen TOPMed |
|
|
rs200495360 CA9237513 |
584 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1568355605 CA404305847 |
584 | Q>H | No |
ClinGen Ensembl |
|
|
rs1457262883 CA404305850 |
584 | Q>L | No |
ClinGen gnomAD |
|
|
rs1457262883 CA404305854 |
584 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 584 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9237512 rs375885074 |
585 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769526664 CA9237510 |
585 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9237511 rs375885074 |
585 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748672881 CA9237506 |
587 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs748672881 COSM3403806 CA9237507 |
587 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs374041118 CA9237509 |
587 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1369344101 CA404305742 |
588 | K>R | No |
ClinGen gnomAD |
|
|
CA404305699 rs1159361407 |
589 | E>V | No |
ClinGen TOPMed |
|
|
CA9237504 rs755336448 |
590 | P>L | No |
ClinGen ExAC |
|
|
rs370007011 CA9237502 |
591 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333979847 CA404305667 |
591 | P>S | No |
ClinGen gnomAD |
|
|
CA9237501 rs756288684 |
592 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1377110667 CA404305638 |
592 | E>Q | No |
ClinGen gnomAD |
|
|
CA9237499 rs139839545 |
595 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404305561 rs1193960562 COSM991578 |
595 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404305555 rs1329703614 |
596 | Q>* | No |
ClinGen TOPMed |
|
|
rs35557520 CA305517985 |
596 | Q>H | No |
ClinGen Ensembl |
|
|
CA9237498 rs757211375 |
596 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA404305534 rs1480940706 |
597 | R>P | No |
ClinGen gnomAD |
|
|
rs1480940706 CA404305531 |
597 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM991577 CA9237496 rs201873417 |
597 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA305517982 rs966511162 |
598 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs966511162 CA404305511 |
598 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1205481365 CA404305517 |
598 | A>T | No |
ClinGen gnomAD |
|
|
COSM242057 CA404305496 rs1254878306 |
599 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9237494 rs150832090 |
600 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404305478 rs1311413569 |
600 | R>W | No |
ClinGen TOPMed |
|
|
CA9237493 rs765024858 |
601 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs759207662 CA9237492 |
602 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404305447 rs776059493 |
602 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141459890 CA404305429 |
603 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141459890 CA9237490 |
603 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237489 rs746433658 |
604 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9237488 rs774849615 |
604 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404305383 rs1274217873 |
605 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9237487 rs769102030 |
605 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA404305369 rs1458177510 |
606 | C>F | No |
ClinGen TOPMed |
|
|
CA404305364 rs749685354 |
606 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780364346 CA9237485 |
607 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs34011570 CA305517930 |
608 | R>M | No |
ClinGen Ensembl |
|
|
rs1438804473 CA404305339 |
608 | R>W | No |
ClinGen gnomAD |
|
|
CA305517907 rs1006881598 |
611 | E>G | No |
ClinGen TOPMed |
|
|
CA404305280 rs1180326799 |
611 | E>K | No |
ClinGen gnomAD |
|
|
CA305517559 rs755544907 |
612 | G>S | No |
ClinGen Ensembl |
|
|
CA9237455 rs754811457 |
613 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9237456 rs778646912 |
613 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753523817 CA9237454 |
614 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs373766611 CA9237452 |
615 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373766611 CA9237453 |
615 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554080215 CA9237451 |
616 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs766999804 CA9237450 |
616 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767856855 CA9237448 |
618 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435438551 CA404305073 |
619 | Q>R | No |
ClinGen TOPMed |
|
|
CA9237447 rs770151631 |
621 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404305008 rs1442520718 |
623 | S>P | No |
ClinGen gnomAD |
|
|
rs1476564766 CA404304988 |
624 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404304987 rs1476564766 |
624 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9237446 rs759977633 |
625 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9237443 rs747223151 |
626 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs771237572 CA9237444 |
626 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772280411 CA9237442 |
627 | P>A | No |
ClinGen ExAC gnomAD |
|
| rs773036580 | 627 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772280411 CA9237441 |
627 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs577720271 CA9237438 |
628 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404304958 rs1469299849 |
628 | T>P | No |
ClinGen gnomAD |
|
|
rs1216811626 CA404304953 |
629 | P>S | No |
ClinGen gnomAD |
|
|
rs556159504 CA9237437 |
631 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753706241 CA9237436 |
633 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369394963 CA404304925 |
633 | A>V | No |
ClinGen TOPMed |
|
|
CA404304921 rs1308532795 |
634 | D>A | No |
ClinGen TOPMed |
|
|
CA404304920 rs1308532795 |
634 | D>G | No |
ClinGen TOPMed |
|
|
rs1268591790 CA404304916 |
635 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9237434 COSM709882 rs755820220 |
636 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs761336576 CA9237432 |
637 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761336576 CA9237431 |
637 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9237430 CA9237429 rs148754749 |
638 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404304897 rs1568354207 |
638 | D>G | No |
ClinGen Ensembl |
|
|
CA9237428 rs759941917 |
642 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404304869 rs1568354152 |
642 | T>I | No |
ClinGen Ensembl |
|
|
CA404304873 rs759941917 |
642 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9237427 rs777116447 |
644 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404304859 rs777116447 |
644 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375643421 CA404304846 |
646 | T>A | No |
ClinGen gnomAD |
|
|
rs773579799 CA9237425 |
646 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773579799 CA9237424 |
646 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375643421 CA404304847 |
646 | T>P | No |
ClinGen gnomAD |
|
|
rs773579799 CA9237426 |
646 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748265622 CA404304841 |
647 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748265622 CA9237422 |
647 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9237423 rs376780373 |
647 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144546583 CA9237420 |
648 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371881044 CA404304839 |
648 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237418 rs371881044 |
648 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237421 rs144546583 |
648 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9237419 rs144546583 |
648 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001065939 rs761486084 |
649 | G>missing | No |
ClinVar dbSNP |
|
|
rs1158808402 CA404304833 |
649 | G>E | No |
ClinGen gnomAD |
|
|
rs745615872 CA9237413 |
650 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA404304826 rs1448852770 |
651 | G>R | No |
ClinGen TOPMed |
|
|
CA9237411 rs780854924 |
653 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9237409 rs376828486 |
655 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305517262 rs1049460638 |
656 | P>L | No |
ClinGen gnomAD |
|
|
rs1599915088 CA404304791 |
657 | G>D | No |
ClinGen Ensembl |
|
|
CA9237408 rs763502997 |
659 | D>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9NXH9
1 regional properties for Q9NXH9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 99 - 172 | IPR000210 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.216 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| tRNA (guanine-N2-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA containing guanine = S-adenosyl-L-homocysteine + tRNA containing N2-methylguanine. |
| tRNA binding | Binding to a transfer RNA. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| tRNA modification | The covalent alteration of one or more nucleotides within a tRNA molecule to produce a tRNA molecule with a sequence that differs from that coded genetically. |
| tRNA N2-guanine methylation | The process whereby a guanine in a tRNA is methylated at the N2 position of guanine. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z2T5 | TRMT1L | TRMT1-like protein | Homo sapiens (Human) | PR |
| Q3TX08 | Trmt1 | tRNA (guanine(26)-N(2))-dimethyltransferase | Mus musculus (Mouse) | PR |
| Q9LFU5 | At5g15810 | Probable tRNA (guanine(26)-N(2))-dimethyltransferase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SRU7 | At3g02320 | Probable tRNA (guanine(26)-N(2))-dimethyltransferase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQGSSLWLSL | TFRSARVLSR | ARFFEWQSPG | LPNTAAMENG | TGPYGEERPR | EVQETTVTEG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAKIAFPSAN | EVFYNPVQEF | NRDLTCAVIT | EFARIQLGAK | GIQIKVPGEK | DTQKVVVDLS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EQEEEKVELK | ESENLASGDQ | PRTAAVGEIC | EEGLHVLEGL | AASGLRSIRF | ALEVPGLRSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VANDASTRAV | DLIRRNVQLN | DVAHLVQPSQ | ADARMLMYQH | QRVSERFDVI | DLDPYGSPAT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLDAAVQAVS | EGGLLCVTCT | DMAVLAGNSG | ETCYSKYGAM | ALKSRACHEM | ALRIVLHSLD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LRANCYQRFV | VPLLSISADF | YVRVFVRVFT | GQAKVKASAS | KQALVFQCVG | CGAFHLQRLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KASGVPSGRA | KFSAACGPPV | TPECEHCGQR | HQLGGPMWAE | PIHDLDFVGR | VLEAVSANPG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RFHTSERIRG | VLSVITEELP | DVPLYYTLDQ | LSSTIHCNTP | SLLQLRSALL | HADFRVSLSH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ACKNAVKTDA | PASALWDIMR | CWEKECPVKR | ERLSETSPAF | RILSVEPRLQ | ANFTIREDAN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSSRQRGLKR | FQANPEANWG | PRPRARPGGK | AADEAMEERR | RLLQNKRKEP | PEDVAQRAAR |
| 610 | 620 | 630 | 640 | 650 | |
| LKTFPCKRFK | EGTCQRGDQC | CYSHSPPTPR | VSADAAPDCP | ETSNQTPPGP | GAAAGPGID |