Q9BWV7
PR
Gene name |
TTLL2 |
Protein name |
Probable tubulin polyglutamylase TTLL2 |
Names |
Testis-specific protein NYD-TSPG, Tubulin--tyrosine ligase-like protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83887 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9BWV7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BWV7-F1 | Predicted | AlphaFoldDB |
551 variants for Q9BWV7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs750841594 CA366422958 |
2 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs750841594 CA4097170 |
2 | R>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_028119 CA4097171 rs12526094 |
3 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376612341 CA4097173 |
4 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6929383 CA4097172 |
4 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298591053 CA366423028 |
7 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1298591053 CA366423033 |
7 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1322332350 CA366423051 |
8 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1320502099 CA366423081 |
11 | Q>K | No |
ClinGen gnomAD |
|
|
rs1202996397 CA366423102 |
12 | S>I | No |
ClinGen gnomAD |
|
|
rs1251202392 CA366423116 |
13 | Q>* | No |
ClinGen gnomAD |
|
|
CA151993873 rs748372429 |
14 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748372429 CA4097176 |
14 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1075978 CA4097177 rs760800449 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA151993877 rs766849833 |
15 | L>P | No |
ClinGen gnomAD |
|
|
rs745601156 CA366423153 |
16 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA4097180 rs769720270 |
16 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4097179 rs745601156 |
16 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466592488 CA366420275 |
19 | R>T | No |
ClinGen gnomAD |
|
|
CA366420282 rs1583112424 |
20 | T>P | No |
ClinGen Ensembl |
|
|
rs765605489 CA4097211 |
21 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765605489 CA366420295 |
21 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs561182118 CA4097214 |
22 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366420310 rs758374040 |
22 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4097213 rs758374040 |
22 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA366420344 rs1473448798 |
23 | P>A | No |
ClinGen TOPMed |
|
|
rs1262262432 CA366420358 |
24 | A>T | No |
ClinGen gnomAD |
|
|
rs757595084 CA4097216 |
26 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366420392 rs1583112449 |
26 | T>P | No |
ClinGen Ensembl |
|
|
CA4097217 rs779980008 |
27 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097218 rs753517376 |
28 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA366420438 rs1269660880 |
29 | I>V | No |
ClinGen TOPMed |
|
|
CA366420452 rs1209048862 |
30 | P>S | No |
ClinGen TOPMed |
|
|
CA366420481 rs766792551 |
32 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097221 rs766792551 |
32 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366420478 rs766792551 |
32 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550201223 CA4097223 |
33 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1583112502 CA366420525 |
34 | N>S | No |
ClinGen Ensembl |
|
|
CA366420558 rs1321479108 |
36 | T>A | No |
ClinGen TOPMed |
|
|
CA366420564 rs746659712 |
36 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4097224 rs746659712 |
36 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA366420574 rs1461202672 |
37 | E>K | No |
ClinGen TOPMed |
|
|
CA4097225 rs770629485 |
38 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045044921 CA151968294 |
38 | Q>L | No |
ClinGen Ensembl |
|
|
CA366420623 COSM1075979 rs1394889227 |
39 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA366420663 rs1424881256 |
42 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366420702 rs775815927 |
45 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097229 rs775815927 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364852196 CA366420717 |
46 | R>S | No |
ClinGen gnomAD |
|
|
rs764240119 CA4097231 |
51 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761994264 CA4097233 |
53 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761994264 CA151968319 |
53 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767565652 CA4097234 |
54 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA366420856 rs1562372676 |
55 | P>L | No |
ClinGen Ensembl |
|
|
CA151968331 rs942596663 |
55 | P>T | No |
ClinGen TOPMed |
|
|
CA4097235 COSM741148 rs547856286 |
58 | R>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA366420897 rs148897232 |
58 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097236 rs148897232 |
58 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097237 rs759542901 |
60 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097238 COSM172259 rs200446307 |
60 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200446307 CA366420920 |
60 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4097239 rs549311656 COSM1698282 |
61 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs537648843 CA4097241 |
63 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_057312 rs34350976 CA4097240 |
63 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs967771257 CA151968361 |
65 | L>P | No |
ClinGen Ensembl |
|
|
CA4097243 rs770433072 |
68 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780669938 CA4097245 |
68 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422777623 CA366420994 |
68 | K>Q | No |
ClinGen gnomAD |
|
|
rs201510912 CA4097280 |
71 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562373278 CA366421447 |
71 | P>T | No |
ClinGen Ensembl |
|
|
CA4097281 rs751528909 |
74 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097282 rs367719482 |
75 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366421507 rs1466760740 |
76 | E>K | No |
ClinGen gnomAD |
|
|
CA4097284 rs745482252 |
77 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1403723593 CA366421540 |
78 | E>* | No |
ClinGen gnomAD |
|
|
CA366421547 rs1583113326 |
78 | E>D | No |
ClinGen Ensembl |
|
|
rs1469202789 CA366421559 |
79 | P>H | No |
ClinGen gnomAD |
|
|
CA4097285 rs755864675 |
80 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs141328881 CA4097286 |
82 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366421589 rs1389135081 |
82 | A>V | No |
ClinGen gnomAD |
|
|
CA4097287 rs749595106 |
84 | L>S | No |
ClinGen ExAC |
|
|
CA151969172 rs1020156322 |
85 | K>E | No |
ClinGen Ensembl |
|
|
rs1331266451 CA366421635 COSM1075982 |
86 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1331266451 CA366421631 |
86 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs371465663 CA151969179 |
88 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA4097289 rs374723694 COSM207750 |
90 | R>C | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4097290 COSM168341 rs553495918 |
90 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4097292 COSM207751 rs140657695 |
91 | V>I | lung ovary Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA151969196 rs372165498 |
92 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097293 rs760793115 |
92 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1480885568 CA366421700 |
93 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366421703 rs1480885568 |
93 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4097295 rs776845056 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA366421728 rs1170921356 |
95 | T>I | No |
ClinGen gnomAD |
|
|
CA366421726 rs1479960510 |
95 | T>S | No |
ClinGen gnomAD |
|
|
CA4097296 rs145779681 |
96 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097297 rs145779681 |
96 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366421744 rs1297091307 |
97 | A>T | No |
ClinGen gnomAD |
|
|
CA366421757 rs1390910250 |
98 | V>M | No |
ClinGen gnomAD |
|
|
CA4097299 rs757262423 |
99 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs877653 CA366421803 |
101 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366421809 rs1296762980 |
102 | V>A | No |
ClinGen gnomAD |
|
|
rs1223233905 CA366421804 |
102 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4097302 rs755580641 |
103 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA366421815 rs1310001535 |
103 | L>P | No |
ClinGen TOPMed |
|
|
rs147083310 CA4097306 |
105 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755368055 CA4097307 |
106 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373378018 CA366421841 |
106 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097308 rs373378018 |
106 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366421850 rs1490249227 |
107 | G>R | No |
ClinGen gnomAD |
|
|
rs1471935930 CA366421872 |
108 | W>C | No |
ClinGen TOPMed |
|
|
CA4097309 rs748660099 |
108 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 109 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421461996 CA366421891 |
110 | K>E | No |
ClinGen gnomAD |
|
|
CA366421911 rs1355483390 |
111 | F>S | No |
ClinGen gnomAD |
|
|
CA366421925 rs1183369865 |
112 | D>G | No |
ClinGen TOPMed |
|
|
CA366421940 rs1437982746 |
113 | K>R | No |
ClinGen TOPMed |
|
|
rs772690533 CA4097310 |
114 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4097311 rs772690533 |
114 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs199837133 CA4097314 |
118 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4097315 rs759803582 |
118 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234404399 CA366422010 |
119 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1400295012 CA366422025 |
120 | D>N | No |
ClinGen gnomAD |
|
|
CA4097317 CA4097318 rs774202495 |
122 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4097319 rs767434188 |
124 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750355629 CA4097321 |
125 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs905669123 CA151969273 |
125 | W>R | No |
ClinGen TOPMed |
|
|
CA366422105 rs1340048664 |
126 | R>K | No |
ClinGen TOPMed |
|
|
CA151969282 rs11540664 VAR_028120 |
127 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1583113503 CA366422120 |
127 | T>I | No |
ClinGen Ensembl |
|
|
rs867352016 CA151969294 |
128 | S>F | No |
ClinGen Ensembl |
|
|
CA4097323 rs149637219 |
129 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097324 rs766032320 |
131 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097325 rs144414037 |
131 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1562373473 CA366422150 |
132 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 134 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097327 rs148797490 |
134 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141913143 CA366422171 |
135 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141913143 CA4097328 |
135 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA151969315 rs146306345 |
135 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146306345 CA4097329 |
135 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097331 rs747494590 |
137 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160904496 CA366422190 |
137 | S>R | No |
ClinGen gnomAD |
|
|
CA4097333 rs200616376 |
140 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200616376 CA4097334 |
140 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770061365 CA4097336 |
143 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | N>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921528420 CA151969351 |
146 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs889767358 CA151969356 |
146 | H>Q | No |
ClinGen gnomAD |
|
|
rs775704905 CA4097337 |
147 | H>L | No |
ClinGen ExAC |
|
| TCGA novel | 147 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358863278 CA366422263 |
148 | P>H | No |
ClinGen gnomAD |
|
|
CA151969360 rs1007289461 |
148 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 149 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366422283 rs1286541807 |
152 | K>E | No |
ClinGen gnomAD |
|
|
CA4097338 rs761625216 |
153 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA366422290 rs761625216 |
153 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs760567282 CA4097341 |
156 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1355690250 CA366422312 |
156 | K>I | No |
ClinGen TOPMed |
|
|
rs148105716 CA151969406 COSM107463 |
159 | L>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA366422339 rs1470157650 |
160 | A>S | No |
ClinGen gnomAD |
|
|
CA366422337 rs1470157650 |
160 | A>T | No |
ClinGen gnomAD |
|
|
CA151969413 rs926143621 |
160 | A>V | No |
ClinGen TOPMed |
|
|
CA4097344 rs371348357 COSM741145 |
162 | H>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374350857 CA4097346 |
163 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs972995325 CA151969428 |
165 | H>Y | No |
ClinGen Ensembl |
|
|
rs1375200915 CA366422387 |
167 | R>K | No |
ClinGen gnomAD |
|
|
rs758703377 CA151969431 |
168 | R>K | No |
ClinGen TOPMed |
|
|
rs1053650567 CA151969433 |
168 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs150791384 CA4097348 |
169 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs917216300 CA151969437 |
169 | M>V | No |
ClinGen TOPMed |
|
|
CA366422408 rs1335375214 |
170 | Y>C | No |
ClinGen gnomAD |
|
|
CA366422405 rs1412436665 |
170 | Y>H | No |
ClinGen TOPMed |
|
|
rs778050222 CA4097350 |
172 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs571204169 CA4097352 |
175 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA151969490 rs952883499 |
178 | I>T | No |
ClinGen Ensembl |
|
|
CA366422468 rs1223503769 |
179 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366422467 rs1223503769 |
179 | P>R | No |
ClinGen TOPMed gnomAD |
|
| rs1371381574 | 180 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199812982 CA151969496 |
181 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199812982 CA4097354 |
181 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097356 rs769871004 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780270059 CA4097358 |
182 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151969516 rs1044261627 |
183 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4097359 rs202105107 |
185 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370667536 CA4097360 |
186 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 187 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366422526 rs1199746671 |
189 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366422539 rs1297170884 |
190 | K>N | No |
ClinGen TOPMed |
|
|
CA366422540 rs1481595105 |
191 | F>I | No |
ClinGen gnomAD |
|
|
CA366422549 rs139171962 |
192 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097361 COSM1075983 rs139171962 |
192 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138043999 CA4097362 |
193 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352881849 CA366422582 |
197 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366422590 rs1320972196 |
198 | E>K | No |
ClinGen TOPMed |
|
|
rs574970995 CA4097363 |
200 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA151969539 CA366422618 rs756142646 |
201 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs905771142 CA151969536 |
201 | M>V | No |
ClinGen TOPMed |
|
|
VAR_028121 rs6936639 RCV000961772 CA4097364 |
202 | L>P | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1274043075 CA366422627 |
203 | G>A | No |
ClinGen gnomAD |
|
|
rs1339978395 CA366422647 |
206 | H>R | No |
ClinGen gnomAD |
|
|
rs1048875867 CA151969551 |
207 | S>I | No |
ClinGen TOPMed |
|
|
CA366422664 rs1216325909 |
208 | Y>* | No |
ClinGen gnomAD |
|
|
rs1583113748 CA366422672 |
209 | W>* | No |
ClinGen Ensembl |
|
|
rs1436769164 CA366422688 |
211 | C>* | No |
ClinGen gnomAD |
|
|
CA4097367 rs762555500 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097368 rs201955866 |
214 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366422703 rs201955866 |
214 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4097370 rs757637049 |
215 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1197636373 CA366422708 |
215 | E>K | No |
ClinGen gnomAD |
|
|
rs1224751590 CA366422723 |
217 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201403956 CA4097372 |
218 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4097373 rs756160046 |
218 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366422737 rs1203274221 |
219 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366422747 rs1296663217 |
221 | G>E | No |
ClinGen TOPMed |
|
|
CA4097375 CA366422745 rs142290843 |
221 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749518555 CA4097376 |
222 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403398878 CA366422755 |
222 | I>M | No |
ClinGen gnomAD |
|
|
CA366422786 rs1285730900 |
227 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 227 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097377 rs755211994 |
227 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1050305546 CA151969602 |
230 | D>E | No |
ClinGen TOPMed |
|
|
rs746734482 CA4097379 |
232 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776662347 CA4097381 |
234 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4097382 rs745850517 |
235 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA151969622 rs375168956 |
235 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA151969630 rs375168956 |
235 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145740701 CA4097383 |
236 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774932320 CA4097384 |
238 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763598186 CA4097386 |
238 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774932320 CA4097385 |
238 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762129840 CA4097388 |
243 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs368188324 CA151969651 |
243 | I>V | No |
ClinGen ESP |
|
|
CA366422912 rs1562373745 |
245 | N>T | No |
ClinGen Ensembl |
|
|
CA366422921 rs1164278664 |
246 | P>R | No |
ClinGen gnomAD |
|
|
rs1201461978 CA366422926 |
247 | L>* | No |
ClinGen TOPMed |
|
|
CA366422927 rs1201461978 |
247 | L>S | No |
ClinGen TOPMed |
|
|
CA4097392 rs200952819 |
249 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097394 rs753801734 |
250 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4097395 rs755088321 |
252 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366422987 rs1481719522 |
253 | K>T | No |
ClinGen TOPMed |
|
|
CA4097397 rs778962035 |
254 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs778962035 CA4097396 |
254 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA151969687 rs373814059 |
255 | D>N | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 256 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757096367 CA4097398 |
257 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34053826 CA4097399 COSM3410788 |
257 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs34053826 CA366423029 |
257 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34053826 CA4097400 |
257 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs183665803 CA4097402 |
262 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA151969742 rs984240930 |
266 | K>R | No |
ClinGen Ensembl |
|
|
rs1243465009 CA366423149 |
267 | P>L | No |
ClinGen gnomAD |
|
|
rs370601211 CA4097405 |
268 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097404 rs768248107 |
268 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA366423164 rs374231286 |
269 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097406 rs374231286 |
269 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266690922 CA366423181 |
271 | Y>C | No |
ClinGen gnomAD |
|
|
CA4097408 rs202147809 |
274 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366423201 rs202147809 |
274 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147779482 CA151969766 |
278 | V>I | No |
ClinGen ESP |
|
|
CA366423233 rs754399268 |
279 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754399268 CA4097411 |
279 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1075984 rs200167585 CA4097410 |
279 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759484131 CA4097412 |
280 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097413 rs141215599 |
282 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs945715465 CA151969783 COSM169832 |
284 | K>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA366423273 rs1470223495 |
285 | F>L | No |
ClinGen gnomAD |
|
|
CA4097416 rs758761651 |
287 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375732093 CA4097417 |
289 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097418 rs201317865 |
291 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201317865 CA4097419 |
291 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366423320 rs1245291301 |
292 | N>S | No |
ClinGen TOPMed |
|
|
rs925849361 CA366423325 |
293 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1234823663 CA366423327 |
293 | N>S | No |
ClinGen gnomAD |
|
|
rs925849361 CA151969821 |
293 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4097422 rs199665412 |
294 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366423355 rs1265499997 |
297 | L>S | No |
ClinGen gnomAD |
|
|
CA4097424 rs778458262 |
298 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778458262 CA4097423 |
298 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199881748 CA366423373 |
300 | S>G | No |
ClinGen gnomAD |
|
|
rs748400439 CA151969843 |
300 | S>N | No |
ClinGen gnomAD |
|
|
CA366423381 rs1180339370 |
301 | S>N | No |
ClinGen gnomAD |
|
|
rs1318165270 CA366423397 COSM595394 |
303 | N>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4097427 rs760905817 COSM40731 |
306 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs559084570 CA4097429 |
310 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1583114003 CA366423440 |
310 | E>K | No |
ClinGen Ensembl |
|
|
CA366423463 rs1298247568 |
313 | K>E | No |
ClinGen gnomAD |
|
|
CA366423474 rs1398062128 |
314 | E>G | No |
ClinGen gnomAD |
|
|
rs760130812 CA366423479 |
315 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760130812 CA4097430 |
315 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1041136450 CA151969876 |
316 | I>F | No |
ClinGen Ensembl |
|
|
rs1306970915 CA366423488 |
316 | I>M | No |
ClinGen gnomAD |
|
|
CA366423492 rs1453142379 |
317 | G>D | No |
ClinGen TOPMed |
|
|
rs35919224 CA4097432 |
318 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765404743 CA4097431 |
318 | H>Y | No |
ClinGen ExAC |
|
|
CA366423510 rs1562373927 |
320 | C>Y | No |
ClinGen Ensembl |
|
|
rs200878719 CA151969882 |
323 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200878719 COSM73116 CA4097433 |
323 | T>M | ovary Variant assessed as Somatic; 4.62e-05 impact. stomach [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 326 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747058851 CA151969915 |
327 | F>C | No |
ClinGen TOPMed |
|
|
rs754998390 CA4097441 |
327 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486510286 CA366423564 |
328 | F>L | No |
ClinGen TOPMed |
|
| rs770551644 | 329 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770551644 | 329 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552250668 CA4097444 |
330 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366423591 rs571140155 |
332 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs571140155 CA4097445 |
332 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4097446 rs746724673 |
332 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316695433 CA366423619 |
336 | V>M | No |
ClinGen TOPMed |
|
|
rs34740867 CA4097448 |
338 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199616977 CA4097447 |
338 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174308081 CA366423652 |
341 | L>* | No |
ClinGen Ensembl |
|
|
CA366423659 rs1387236970 |
342 | W>R | No |
ClinGen gnomAD |
|
|
rs746349575 CA4097449 |
344 | K>E | No |
ClinGen ExAC |
|
|
rs146295287 CA4097450 |
344 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097451 rs776147825 |
346 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139552031 CA4097453 |
347 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs556516360 CA4097454 |
347 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556516360 CA4097455 |
347 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556516360 CA151969966 |
347 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097457 rs753608857 |
348 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA366423699 rs1305330678 |
348 | M>T | No |
ClinGen gnomAD |
|
|
rs766071636 CA4097456 |
348 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754769234 CA4097459 |
349 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097458 rs754769234 |
349 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151969992 rs957266373 |
351 | L>V | No |
ClinGen Ensembl |
|
|
rs1562374010 CA366423720 |
352 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 354 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097463 rs557136962 |
355 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557136962 CA4097464 |
355 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366423747 rs1562374029 |
356 | I>M | No |
ClinGen Ensembl |
|
|
VAR_057313 rs34286114 CA4097466 |
356 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366423753 rs1489621746 |
357 | A>V | No |
ClinGen TOPMed |
|
|
CA4097469 rs539427508 |
358 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4097468 rs770316155 |
358 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA366423767 rs1425576748 |
360 | V>A | No |
ClinGen Ensembl |
|
|
rs749863736 CA4097470 |
360 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4097472 rs774543863 |
364 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151970062 rs774543863 |
364 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583114180 CA366423794 |
365 | N>D | No |
ClinGen Ensembl |
|
|
rs1249340269 CA366423802 |
366 | C>R | No |
ClinGen TOPMed |
|
|
rs1583114184 CA366423808 |
366 | C>W | No |
ClinGen Ensembl |
|
|
rs1229384704 CA366423824 |
368 | E>D | No |
ClinGen TOPMed |
|
|
CA366423832 rs1162315467 |
370 | F>L | No |
ClinGen gnomAD |
|
|
CA4097473 rs761809509 |
370 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA366423850 rs1364688446 |
372 | F>L | No |
ClinGen gnomAD |
|
|
CA366423864 rs1583114195 |
374 | I>T | No |
ClinGen Ensembl |
|
|
CA366423872 rs1296928129 |
375 | L>F | No |
ClinGen gnomAD |
|
|
CA4097477 rs765064335 |
376 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs142598770 CA4097476 |
376 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs185200906 CA4097479 |
378 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763500736 CA4097480 |
379 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA366423928 rs1169965584 |
383 | W>* | No |
ClinGen TOPMed |
|
|
CA366423925 rs1394612206 |
383 | W>* | No |
ClinGen TOPMed |
|
|
rs1562374079 CA366423947 |
386 | E>A | No |
ClinGen Ensembl |
|
|
CA4097483 rs780860560 |
387 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445866962 CA366423962 |
388 | N>K | No |
ClinGen gnomAD |
|
|
CA4097484 rs144554559 |
388 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097485 rs756528392 |
390 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA366423979 rs1197888910 |
391 | P>T | No |
ClinGen TOPMed |
|
|
rs373611883 CA4097486 |
392 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366423988 rs373611883 |
392 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373611883 CA4097487 |
392 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160289093 CA366423998 |
394 | T>A | No |
ClinGen gnomAD |
|
|
rs113798876 CA151970156 |
395 | L>M | No |
ClinGen Ensembl |
|
|
rs1436827044 CA366424043 |
400 | D>E | No |
ClinGen TOPMed |
|
|
rs748216967 CA4097491 |
401 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097492 rs772064968 |
403 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA366424069 rs1282513379 |
405 | R>G | No |
ClinGen gnomAD |
|
|
rs777102747 CA4097494 |
409 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224609577 CA366424100 |
409 | H>R | No |
ClinGen gnomAD |
|
|
rs775322462 CA4097496 |
410 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4097495 rs769573091 |
410 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207402489 CA366424123 |
413 | D>N | No |
ClinGen gnomAD |
|
|
CA366424128 rs1221594316 |
413 | D>V | No |
ClinGen TOPMed |
|
|
rs1178626233 CA366424144 |
416 | Y>H | No |
ClinGen gnomAD |
|
|
rs1409320223 CA366424158 |
418 | N>H | No |
ClinGen TOPMed |
|
|
CA151970215 rs1024503859 |
419 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 421 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761340871 CA4097500 |
423 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4097501 rs141172576 CA366424199 |
424 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141172576 CA366424198 |
424 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366424203 rs909545 |
425 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097502 rs909545 VAR_028122 |
425 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4097503 rs574504660 |
426 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574504660 CA366424210 |
426 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1332268501 COSM3948783 CA366424218 |
427 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4097504 rs779861848 |
429 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443172082 CA366424237 |
430 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4097505 rs754185512 |
432 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs754185512 CA366424253 |
432 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4097506 rs376630712 |
435 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1469164892 CA366424272 |
435 | S>P | No |
ClinGen TOPMed |
|
|
CA151970242 rs775784214 |
437 | I>V | No |
ClinGen Ensembl |
|
|
rs909546 CA366424295 |
438 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748651103 CA366424289 |
438 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748651103 CA4097508 |
438 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366424298 rs750005626 |
439 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151970267 rs750005626 |
439 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366424297 rs767071019 |
439 | A>P | No |
ClinGen gnomAD |
|
|
CA151970261 rs767071019 |
439 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4097512 rs750005626 |
439 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_061866 CA4097513 rs41266331 |
441 | K>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366424314 rs1292154344 |
442 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 442 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366424315 rs1249082989 |
442 | S>N | No |
ClinGen gnomAD |
|
|
CA4097514 rs368696277 |
443 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366424327 rs1270131939 |
444 | R>G | No |
ClinGen gnomAD |
|
|
CA366424334 rs9457304 |
445 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097517 rs762699057 |
445 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA151970298 rs9457304 |
445 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097516 rs9457304 VAR_028123 |
445 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4097519 rs564037496 |
447 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4097520 rs761699389 |
448 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097521 rs767053944 |
449 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335098777 CA366424359 |
449 | A>V | No |
ClinGen TOPMed |
|
|
rs1332665796 CA366424367 |
451 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148357898 CA4097522 |
454 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407366288 CA366424404 |
456 | D>A | No |
ClinGen TOPMed |
|
|
CA366424417 rs1480098173 |
458 | L>H | No |
ClinGen gnomAD |
|
|
rs373926523 CA4097523 |
458 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097526 COSM1230838 rs753565384 |
459 | S>L | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766087426 CA4097525 |
459 | S>P | No |
ClinGen ExAC |
|
|
CA366424436 rs1159805551 |
461 | T>R | No |
ClinGen TOPMed |
|
|
CA4097528 rs377077946 |
463 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753242295 CA4097529 |
464 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA366424455 rs1384258129 |
464 | M>R | No |
ClinGen TOPMed |
|
|
rs753242295 CA4097530 |
464 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA366424467 rs1292926892 |
466 | N>H | No |
ClinGen gnomAD |
|
|
rs140708449 CA4097533 |
467 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140708449 CA366424475 |
467 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366424482 rs1562374273 |
468 | D>N | No |
ClinGen Ensembl |
|
|
CA4097534 rs781345148 |
471 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1214970428 CA366424549 |
477 | S>R | No |
ClinGen TOPMed |
|
|
rs1388446629 CA366424547 |
477 | S>T | No |
ClinGen gnomAD |
|
|
CA4097537 rs774068790 |
478 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs145916962 CA4097538 |
479 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145916962 CA151970369 |
479 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4097539 rs138482235 |
479 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145916962 CA366424556 |
479 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403323547 CA366424565 |
481 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4097540 rs773308142 |
483 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4097543 rs571247760 |
484 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs142723528 CA4097542 |
484 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142723528 CA151970400 |
484 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097545 rs200373800 |
486 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA151970419 rs1052525107 |
489 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1353822957 CA366424627 |
491 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4097546 rs201869034 |
491 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1319671304 CA366424636 |
492 | M>K | No |
ClinGen TOPMed |
|
|
rs1583114528 CA366424689 |
499 | L>P | No |
ClinGen Ensembl |
|
|
CA4097547 rs190195718 COSM3777313 |
500 | S>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1398343050 CA366424698 |
501 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1398343050 CA366424696 |
501 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1562374343 CA366424721 |
504 | M>I | No |
ClinGen Ensembl |
|
|
CA4097549 rs150619429 |
504 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150619429 CA4097548 |
504 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757293861 CA4097550 |
505 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1246751625 CA366424731 |
506 | Q>* | No |
ClinGen gnomAD |
|
|
rs781295806 CA4097551 |
506 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1184293895 CA366424739 |
507 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1370360967 COSM1075991 CA366424743 |
507 | S>R | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA151970454 rs377304040 |
509 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1056229529 CA366424765 |
511 | L>I | No |
ClinGen gnomAD |
|
|
rs201031662 CA4097554 |
512 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35888550 CA4097553 |
512 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366424790 rs1387854824 |
515 | H>N | No |
ClinGen gnomAD |
|
|
rs566480270 CA4097556 |
516 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366424805 rs1338334953 |
517 | P>S | No |
ClinGen gnomAD |
|
|
CA366424803 rs1338334953 |
517 | P>T | No |
ClinGen gnomAD |
|
|
rs746994101 CA4097558 |
519 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA366424825 rs1227687804 |
520 | T>A | No |
ClinGen gnomAD |
|
|
CA4097559 rs770553273 |
520 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097562 rs759090609 |
521 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4097561 rs759090609 |
521 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1464854032 CA366424844 |
523 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370514497 CA366424854 |
524 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763185805 CA4097564 |
525 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149385170 COSM1545323 CA4097565 |
525 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366424865 rs1271263756 |
526 | S>F | No |
ClinGen TOPMed |
|
|
rs1473427246 CA366424871 |
527 | L>P | No |
ClinGen gnomAD |
|
|
CA366424886 VAR_028124 rs12528714 COSM150216 CA4097569 |
529 | Q>H | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
CA4097570 rs61732370 |
530 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754133120 CA4097572 |
532 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4097573 rs181443959 |
533 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953166663 CA151970548 |
533 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA151970562 rs965983761 |
534 | K>N | No |
ClinGen Ensembl |
|
|
CA4097574 rs777770198 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA366424920 rs1421444513 |
535 | T>I | No |
ClinGen TOPMed |
|
|
CA366424942 rs1286911105 |
538 | S>F | No |
ClinGen gnomAD |
|
|
CA366424940 rs1286911105 |
538 | S>Y | No |
ClinGen gnomAD |
|
|
rs746939170 CA4097576 |
539 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746939170 CA4097575 |
539 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366424945 rs1329074460 |
539 | P>S | No |
ClinGen gnomAD |
|
|
CA4097578 rs745313954 |
540 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4097581 rs202093642 |
545 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374325653 CA4097583 |
545 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374325653 CA4097584 |
545 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202093642 CA4097582 |
545 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1250855811 CA366424981 |
546 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 547 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 548 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 549 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223372701 CA366425033 |
553 | A>G | No |
ClinGen TOPMed |
|
|
rs1375888921 CA366425030 |
553 | A>P | No |
ClinGen gnomAD |
|
|
CA366425039 rs1465054364 |
554 | G>D | No |
ClinGen gnomAD |
|
|
CA151970602 rs750974770 |
555 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097586 rs750974770 |
555 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866719140 CA151970626 |
556 | F>Y | No |
ClinGen Ensembl |
|
|
rs1372010590 CA366425060 |
558 | L>I | No |
ClinGen gnomAD |
|
|
rs34931196 RCV000959660 VAR_057314 CA4097587 |
559 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34931196 CA366425067 |
559 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097589 rs753994974 |
560 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879065850 CA151970646 |
563 | N>K | No |
ClinGen Ensembl |
|
|
CA366425103 rs1583114729 |
564 | E>G | No |
ClinGen Ensembl |
|
|
rs1387729251 CA366425107 |
565 | A>T | No |
ClinGen gnomAD |
|
|
rs1303993906 CA366425116 |
566 | T>N | No |
ClinGen gnomAD |
|
|
rs148592922 CA4097592 |
568 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366425141 rs1346193308 |
570 | S>C | No |
ClinGen gnomAD |
|
|
CA4097594 rs746398110 |
579 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274220694 CA366425209 |
580 | I>T | No |
ClinGen gnomAD |
|
|
CA366425206 rs1234079190 |
580 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 586 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427146222 CA366425260 |
587 | M>I | No |
ClinGen TOPMed |
|
|
CA366425259 rs149701744 |
587 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4097595 rs149701744 |
587 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs529624621 CA4097596 |
589 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4097599 rs375954400 |
591 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779670182 CA4097597 |
591 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4097600 rs774001980 |
592 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4097601 rs751569634 |
593 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA366425299 rs1583114805 |
593 | S>E | No |
ClinGen Ensembl |
No associated diseases with Q9BWV7
No regional properties for Q9BWV7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BWV7 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| metal ion binding | Binding to a metal ion. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
| tubulin-glutamic acid ligase activity | Catalysis of the posttranslational transfer of one or more glutamate residues to the gamma-carboxyl group(s) of one or more specific glutamate residues on a tubulin molecule. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| protein polyglutamylation | The addition of one or more alpha-linked glutamyl units to the gamma carboxyl group of peptidyl-glutamic acid. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZH6 | TTLL9 | Probable tubulin polyglutamylase TTLL9 | Bos taurus (Bovine) | PR |
| Q14679 | TTLL4 | Tubulin monoglutamylase TTLL4 | Homo sapiens (Human) | PR |
| Q6ZT98 | TTLL7 | Tubulin polyglutamylase TTLL7 | Homo sapiens (Human) | PR |
| Q3SXZ7 | TTLL9 | Probable tubulin polyglutamylase TTLL9 | Homo sapiens (Human) | PR |
| A2APC3 | Ttll9 | Probable tubulin polyglutamylase TTLL9 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRGRDLCSST | QSQALGSLRT | TTPAFTLNIP | SEANHTEQPP | AGLGARLQEA | GVSIPPRRGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PTPTLEKKKK | PHLMAEDEPS | GALLKPLVFR | VDETTPAVVQ | SVLLERGWNK | FDKQEQNAED |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WNLYWRTSSF | RMTEHNSVKP | WQQLNHHPGT | TKLTRKDCLA | KHLKHMRRMY | GTSLYQFIPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TFVMPNDYTK | FVAEYFQERQ | MLGTKHSYWI | CKPAELSRGR | GILIFSDFKD | FIFDDMYIVQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KYISNPLLIG | RYKCDLRIYV | CVTGFKPLTI | YVYQEGLVRF | ATEKFDLSNL | QNNYAHLTNS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SINKSGASYE | KIKEVIGHGC | KWTLSRFFSY | LRSWDVDDLL | LWKKIHRMVI | LTILAIAPSV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PFAANCFELF | GFDILIDDNL | KPWLLEVNYS | PALTLDCSTD | VLVKRKLVHD | IIDLIYLNGL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RNEGREASNA | THGNSNIDAA | KSDRGGLDAP | DCLPYDSLSF | TSRMYNEDDS | VVEKAVSVRP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EAAPASQLEG | EMSGQDFHLS | TREMPQSKPK | LRSRHTPHKT | LMPYASLFQS | HSCKTKTSPC |
| 550 | 560 | 570 | 580 | 590 | |
| VLSDRGKAPD | PQAGNFVLVF | PFNEATLGAS | RNGLNVKRII | QELQKLMNKQ | HS |