Q13099
PR
Gene name |
IFT88 (TG737, TTC10) |
Protein name |
Intraflagellar transport protein 88 homolog |
Names |
Recessive polycystic kidney disease protein Tg737 homolog, Tetratricopeptide repeat protein 10, TPR repeat protein 10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8100 |
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 Q13099
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13099-F1 | Predicted | AlphaFoldDB |
652 variants for Q13099
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA387470774 rs1433385295 |
3 | Q>K | No |
ClinGen TOPMed |
|
|
rs1344092075 CA387470788 |
5 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA246509234 rs981925929 |
6 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1202887007 CA387470814 |
9 | P>Q | No |
ClinGen gnomAD |
|
|
rs200359008 CA6904921 |
9 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376138318 CA6904922 |
12 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387470844 rs1202917261 |
13 | E>D | No |
ClinGen TOPMed |
|
|
CA6904925 rs767243368 |
19 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6904924 rs140680324 |
19 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387470890 rs1351944278 |
20 | Y>C | No |
ClinGen TOPMed |
|
|
CA387470891 rs1351944278 |
20 | Y>F | No |
ClinGen TOPMed |
|
|
rs1335394474 CA387470906 |
22 | D>G | No |
ClinGen TOPMed |
|
|
rs1228511905 CA387470922 |
24 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387470930 rs1266505304 |
25 | P>R | No |
ClinGen gnomAD |
|
|
CA6904926 rs750818479 |
27 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs750818479 CA6904927 |
27 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA6904928 rs201009750 |
29 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6904929 rs754431917 COSM1210329 |
30 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773946920 CA6904940 |
31 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6904941 rs138599693 |
31 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA246512336 rs1048389839 |
33 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs373899277 CA6904942 |
36 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765932393 CA6904943 |
38 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6904945 rs766887846 |
42 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1593785394 CA387471311 |
43 | R>K | No |
ClinGen Ensembl |
|
|
CA6904946 rs141683155 |
46 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6904948 rs779248441 |
50 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6904947 rs755529108 |
50 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165671120 CA387471366 |
51 | P>L | No |
ClinGen gnomAD |
|
|
rs753211125 CA6904973 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1195697688 CA387471397 |
55 | K>Q | No |
ClinGen TOPMed |
|
|
CA6904975 rs375571364 |
59 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375571364 CA6904974 |
59 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6904976 rs751592736 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA246516451 rs1024755393 |
62 | T>S | No |
ClinGen Ensembl |
|
|
CA387471458 rs1282180685 |
64 | P>L | No |
ClinGen TOPMed |
|
|
CA6904977 rs757504073 |
65 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757504073 CA6904978 |
65 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246516477 rs933345858 |
69 | Y>C | No |
ClinGen TOPMed |
|
|
CA387471535 rs1488685318 |
72 | K>E | No |
ClinGen TOPMed |
|
|
rs1452960490 CA387471539 |
72 | K>T | No |
ClinGen gnomAD |
|
|
CA246516993 rs935172901 |
73 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1362158346 CA387471592 |
76 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6904995 rs138056001 |
76 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1362158346 CA387471590 |
76 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA246517010 rs1038058850 |
77 | S>L | No |
ClinGen TOPMed |
|
|
rs750673074 CA6904998 |
79 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6904997 COSM3384757 rs767626107 |
79 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6904999 rs756326377 |
80 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6905002 rs758439682 |
82 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs149506260 CA6905001 |
82 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387471669 rs1163765795 |
83 | M>R | No |
ClinGen TOPMed |
|
|
CA387471668 rs1163765795 |
83 | M>T | No |
ClinGen TOPMed |
|
|
CA6905004 rs201782733 |
83 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905005 rs148678288 |
84 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA246517033 rs1039606315 |
84 | T>I | No |
ClinGen TOPMed |
|
|
CA387471690 rs780723603 |
87 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780723603 CA387471689 |
87 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905006 rs780723603 |
87 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905028 rs748929005 |
89 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6905029 rs372975558 |
89 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387471722 rs1593905848 |
90 | G>R | No |
ClinGen Ensembl |
|
|
CA6905030 rs774663596 |
90 | G>V | No |
ClinGen ExAC |
|
|
CA6905031 rs762271735 |
91 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs772579820 CA6905032 |
92 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1270395802 CA387471735 |
92 | T>I | No |
ClinGen gnomAD |
|
|
CA387471736 rs1270395802 |
92 | T>S | No |
ClinGen gnomAD |
|
|
CA387471751 rs375150650 |
95 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375150650 CA6905033 |
95 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387471798 rs1209645668 |
102 | G>D | No |
ClinGen TOPMed |
|
|
CA6905034 rs760740841 |
103 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs766522220 CA6905035 |
105 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762237086 CA246517526 |
106 | A>T | No |
ClinGen Ensembl |
|
|
rs957794500 CA246517759 |
111 | S>A | No |
ClinGen TOPMed |
|
|
CA387471869 rs1444046708 |
112 | A>T | No |
ClinGen gnomAD |
|
|
CA387471874 rs1391197898 |
112 | A>V | No |
ClinGen gnomAD |
|
|
rs987900141 CA246517762 |
114 | D>E | No |
ClinGen TOPMed |
|
|
rs1454077918 CA387471893 |
115 | P>H | No |
ClinGen gnomAD |
|
|
rs9315740 CA6905052 |
116 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478029099 CA387471900 |
116 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771201386 CA6905054 |
118 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6905053 rs747457589 |
118 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776831267 CA6905055 |
119 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759861534 CA6905056 |
120 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246517776 rs546356595 |
122 | P>R | No |
ClinGen Ensembl |
|
|
CA6905059 rs774023811 |
123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387471950 rs1360211182 |
125 | P>S | No |
ClinGen gnomAD |
|
|
CA6905060 rs761614657 |
126 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA246517784 rs368178391 |
128 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs1343223052 CA387471972 |
128 | A>V | No |
ClinGen gnomAD |
|
|
rs767205880 CA6905061 |
130 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1566106388 CA387471994 |
131 | K>N | No |
ClinGen Ensembl |
|
|
rs755978996 CA6905064 |
132 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905063 rs755978996 |
132 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246520167 rs893169537 |
134 | P>L | No |
ClinGen Ensembl |
|
|
rs1237703855 CA387472268 |
135 | E>A | No |
ClinGen gnomAD |
|
|
CA6905086 rs764712905 COSM1188675 |
136 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752463134 CA6905087 |
138 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368880394 CA6905088 |
139 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1392469366 CA387472320 |
142 | E>G | No |
ClinGen gnomAD |
|
|
rs1007504839 CA246520175 |
143 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6905090 rs751830530 |
144 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1310488492 CA387472359 |
147 | E>D | No |
ClinGen gnomAD |
|
|
CA387472381 rs1339586608 |
149 | V>L | No |
ClinGen gnomAD |
|
|
CA6905093 rs139866950 |
151 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770062711 CA6905095 |
151 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6905094 rs139866950 |
151 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387472434 rs1461379158 |
152 | S>N | No |
ClinGen TOPMed |
|
|
rs779962847 CA6905096 |
153 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1038954324 CA246520216 |
155 | A>T | No |
ClinGen Ensembl |
|
|
CA6905098 rs768714968 |
156 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458276396 CA387472560 |
160 | D>A | No |
ClinGen gnomAD |
|
|
CA387472615 rs1226023412 |
163 | L>F | No |
ClinGen TOPMed |
|
|
CA387472720 rs1230363908 |
169 | K>E | No |
ClinGen gnomAD |
|
|
CA6905120 rs748358611 |
173 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6905118 rs1555261860 |
173 | R>T | No |
ClinGen Ensembl |
|
|
rs1365903518 CA387472761 |
175 | E>* | No |
ClinGen TOPMed |
|
|
CA246520711 rs201336381 |
175 | E>D | No |
ClinGen Ensembl |
|
|
CA246520735 rs772604977 |
182 | R>* | No |
ClinGen gnomAD |
|
|
rs1334526219 CA387472808 |
182 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6905123 rs776380570 |
184 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292484017 CA387472828 |
185 | V>A | No |
ClinGen gnomAD |
|
|
rs1299266664 CA387472824 |
185 | V>I | No |
ClinGen gnomAD |
|
|
CA387472835 rs1311746167 |
186 | T>I | No |
ClinGen gnomAD |
|
|
CA6905124 rs759519229 |
187 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769577868 CA6905125 |
187 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1216377741 CA387472855 |
190 | N>D | No |
ClinGen gnomAD |
|
|
rs762310389 CA387472857 |
190 | N>S | No |
ClinGen ExAC |
|
|
rs762310389 CA6905127 |
190 | N>T | No |
ClinGen ExAC |
|
|
rs763645388 CA6905128 |
191 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267403698 CA387472871 |
192 | N>S | No |
ClinGen TOPMed |
|
|
rs774211111 CA6905129 |
198 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387472928 rs1448958303 |
199 | V>L | No |
ClinGen TOPMed |
|
|
CA6905143 rs563944253 |
200 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563944253 CA387472935 |
200 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387472940 rs1162881262 |
201 | F>L | No |
ClinGen gnomAD |
|
|
rs775345911 CA6905144 |
201 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs147688662 CA6905145 |
202 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768089063 CA6905146 |
204 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA246522285 rs868705243 |
204 | A>V | No |
ClinGen Ensembl |
|
|
RCV000881529 CA6905148 COSM432200 rs79793487 |
205 | S>G | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1375923038 CA387472967 |
205 | S>T | No |
ClinGen gnomAD |
|
|
CA387472973 rs1226996358 |
206 | Q>* | No |
ClinGen gnomAD |
|
|
CA6905149 rs375660619 |
206 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6905150 rs773720756 |
208 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1255600604 CA387472991 COSM223621 |
209 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA387473001 rs1214047740 |
210 | N>S | No |
ClinGen TOPMed |
|
|
CA6905151 rs760893377 |
212 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs925342211 CA246522309 |
213 | Y>C | No |
ClinGen gnomAD |
|
|
rs766755396 CA6905152 |
214 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs370019363 CA6905154 |
215 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765350470 CA6905155 |
216 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246522344 rs1049692644 |
219 | T>A | No |
ClinGen TOPMed |
|
|
rs891015277 CA246522345 |
220 | Y>C | No |
ClinGen Ensembl |
|
|
CA387473072 rs1392662112 |
221 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs142815394 CA246522351 |
221 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA387473076 rs1566134231 |
221 | Q>R | No |
ClinGen Ensembl |
|
|
rs752725491 CA6905156 |
222 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6905157 rs758623992 |
223 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1167381896 CA387473087 |
223 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1484408923 CA387473083 |
223 | I>V | No |
ClinGen TOPMed |
|
|
rs1405784549 CA387473089 |
224 | V>I | No |
ClinGen gnomAD |
|
|
CA387473097 rs1332585722 |
225 | K>Q | No |
ClinGen gnomAD |
|
|
rs1356756446 CA387473103 |
226 | N>H | No |
ClinGen gnomAD |
|
|
rs943898625 CA246522361 |
226 | N>S | No |
ClinGen Ensembl |
|
|
CA387473122 rs149818223 |
228 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905158 rs149818223 |
228 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905159 rs747240431 |
231 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755927859 CA6905160 |
232 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387473598 rs1214139987 |
234 | I>V | No |
ClinGen gnomAD |
|
|
rs1271303153 CA387473623 |
237 | M>T | No |
ClinGen gnomAD |
|
|
rs201076403 CA6905180 |
239 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA246522750 rs1042639661 |
242 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387473668 rs1243849210 |
243 | Y>C | No |
ClinGen gnomAD |
|
|
rs1251939595 CA387473666 |
243 | Y>D | No |
ClinGen gnomAD |
|
|
rs1286343838 CA387473676 |
244 | L>* | No |
ClinGen TOPMed |
|
|
rs1477088140 CA387473683 |
245 | K>R | No |
ClinGen gnomAD |
|
|
COSM432202 rs1474573713 CA387473697 |
247 | R>I | large_intestine Variant assessed as Somatic; impact. endometrium breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1172455518 CA387473739 |
253 | I>V | No |
ClinGen gnomAD |
|
|
rs1297131976 CA387473749 |
254 | K>R | No |
ClinGen TOPMed |
|
|
rs1396243224 CA387473765 |
256 | Y>C | No |
ClinGen gnomAD |
|
|
CA6905181 rs145868877 |
257 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6905182 rs199610348 |
257 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748087750 CA6905183 |
260 | L>S | No |
ClinGen ExAC |
|
|
rs771777604 CA6905184 |
262 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319897470 COSM1188676 CA387473815 |
264 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs777308583 CA6905185 |
264 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435174536 CA387473820 |
265 | S>G | No |
ClinGen gnomAD |
|
|
CA387473823 rs1274972388 |
265 | S>T | No |
ClinGen gnomAD |
|
|
CA6905187 rs746691205 |
267 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1431565647 CA387473837 |
267 | N>S | No |
ClinGen gnomAD |
|
|
CA387473844 rs1237942932 |
268 | K>R | No |
ClinGen gnomAD |
|
|
rs1354157265 CA387473862 |
270 | M>I | No |
ClinGen gnomAD |
|
|
CA6905200 rs754882392 |
273 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6905201 rs200419751 |
273 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1226958823 CA387474323 |
277 | N>S | No |
ClinGen gnomAD |
|
|
rs1377298049 CA387474353 |
279 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6905202 rs752724237 |
279 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466602621 CA387474434 |
284 | Q>* | No |
ClinGen TOPMed |
|
|
CA246523988 rs777172610 |
286 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6905204 rs777172610 |
286 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA387474507 rs1269198666 |
288 | Y>F | No |
ClinGen TOPMed |
|
|
rs770503048 CA6905206 |
289 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1273881473 CA387474539 |
290 | D>G | No |
ClinGen gnomAD |
|
|
CA6905207 COSM1737354 rs549484080 |
292 | I>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6905208 rs771449493 |
293 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6905209 rs770183666 |
294 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6905211 rs749816231 |
296 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1594059915 CA387474623 |
296 | E>K | No |
ClinGen Ensembl |
|
|
rs769108016 CA6905212 |
298 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6905214 rs761898923 |
299 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6905213 rs774295812 |
299 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA387474670 rs1566146723 |
300 | S>T | No |
ClinGen Ensembl |
|
|
rs1330543877 CA387474674 |
301 | M>V | No |
ClinGen gnomAD |
|
|
rs1397086115 CA387474684 |
302 | A>S | No |
ClinGen gnomAD |
|
|
rs773552521 CA6905217 |
303 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6905218 rs571225869 |
304 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387474696 rs571225869 |
304 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1428577956 CA387474700 |
305 | L>M | No |
ClinGen TOPMed |
|
|
CA387474702 rs1390692168 |
305 | L>Q | No |
ClinGen TOPMed |
|
|
CA6905220 rs752493211 |
307 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA387474723 rs1294162176 |
308 | G>A | No |
ClinGen gnomAD |
|
|
rs377583644 CA6905221 |
309 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387474731 rs764026782 |
310 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764026782 CA6905222 |
310 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387474734 rs1167224683 |
310 | N>S | No |
ClinGen TOPMed |
|
|
rs1188159483 CA387474753 |
313 | I>S | No |
ClinGen gnomAD |
|
|
CA6905226 rs148997004 |
313 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387474776 rs1419612144 |
316 | F>C | No |
ClinGen gnomAD |
|
|
CA387474778 rs1476658538 |
316 | F>L | No |
ClinGen gnomAD |
|
|
rs1169315885 CA387474786 |
318 | I>V | No |
ClinGen gnomAD |
|
|
CA387474795 rs1373202233 |
319 | G>E | No |
ClinGen gnomAD |
|
|
rs1463455191 CA387474807 |
321 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM945886 CA6905227 rs775253163 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA246524116 rs17856889 |
326 | K>E | No |
ClinGen Ensembl |
|
|
rs943321085 CA387474850 |
327 | A>P | No |
ClinGen gnomAD |
|
|
rs943321085 CA246524127 |
327 | A>T | No |
ClinGen gnomAD |
|
|
CA6905231 COSM3813532 rs780425667 |
331 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs755711708 CA6905230 |
331 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA387474882 rs1230188894 |
331 | L>W | No |
ClinGen gnomAD |
|
|
rs1193539634 CA387474889 |
332 | I>M | No |
ClinGen TOPMed |
|
|
CA246524148 rs1025019015 |
332 | I>T | No |
ClinGen TOPMed |
|
|
CA387474884 rs1344701969 |
332 | I>V | No |
ClinGen gnomAD |
|
|
CA6905233 rs749583396 |
333 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749583396 CA6905232 |
333 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1260113585 CA387474895 |
334 | V>L | No |
ClinGen gnomAD |
|
|
CA6905234 rs774983378 |
335 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774983378 CA387474900 |
335 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387474918 rs1192566331 |
337 | E>* | No |
ClinGen gnomAD |
|
|
rs1261727627 CA387474920 |
337 | E>A | No |
ClinGen gnomAD |
|
|
CA6905235 rs748602362 |
339 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387474971 rs1175272198 |
341 | D>E | No |
ClinGen gnomAD |
|
|
CA387474968 rs761002503 |
341 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs761002503 CA6905238 |
341 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6905237 rs773406317 |
341 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA246524214 rs1002324527 |
344 | I>N | No |
ClinGen TOPMed |
|
|
CA6905239 rs766670349 |
345 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6905241 rs538922747 |
346 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371180374 CA387475022 |
346 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371180374 CA6905240 |
346 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905242 rs182766679 |
347 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759645619 CA6905260 |
351 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1468552090 CA387475830 |
352 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1215437675 CA387475836 |
353 | N>D | No |
ClinGen gnomAD |
|
|
rs1566161959 CA387475842 |
353 | N>K | No |
ClinGen Ensembl |
|
|
rs768542720 CA6905261 |
357 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA387475869 rs1304225975 |
358 | A>T | No |
ClinGen TOPMed |
|
|
CA6905263 rs761837934 |
359 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905262 rs773966898 |
359 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1177543594 CA387475896 |
362 | D>N | No |
ClinGen gnomAD |
|
|
rs767373782 CA6905265 CA387475910 |
363 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA246526270 rs772217175 |
364 | L>F | No |
ClinGen TOPMed |
|
|
CA387475911 rs772217175 |
364 | L>V | No |
ClinGen TOPMed |
|
|
CA246526274 rs1003345707 |
366 | Q>* | No |
ClinGen TOPMed |
|
|
rs749944804 CA6905266 |
366 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6905267 rs760232648 |
367 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs765872691 CA6905268 |
368 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6905270 rs187354596 |
369 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753533472 CA6905269 |
369 | R>S | No |
ClinGen ExAC gnomAD |
|
|
VAR_046464 RCV000455077 RCV002056696 CA6905300 rs2442455 |
374 | M>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6905299 rs200168455 |
374 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781452341 CA387476880 |
375 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6905301 rs781452341 |
375 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA246533315 rs1005036481 |
377 | K>R | No |
ClinGen TOPMed |
|
|
rs1168357808 CA387476897 |
378 | Y>N | No |
ClinGen TOPMed |
|
|
CA246533325 rs17856890 |
379 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs17856890 CA246533318 |
379 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756369243 CA6905303 |
381 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387476931 rs1325301474 |
383 | A>S | No |
ClinGen gnomAD |
|
|
CA6905304 rs367557180 |
386 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA246533338 rs367557180 |
386 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430865345 CA387476951 |
386 | I>V | No |
ClinGen gnomAD |
|
|
CA387476955 rs749518522 |
387 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905305 rs749518522 |
387 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255279844 CA387476962 |
388 | P>S | No |
ClinGen TOPMed |
|
|
CA6905307 rs771896937 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6905309 rs746974451 |
396 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746974451 CA246533349 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6905313 rs145383209 |
399 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243972221 CA387477040 |
400 | W>* | No |
ClinGen gnomAD |
|
|
rs1326049842 CA387472025 |
401 | C>Y | No |
ClinGen gnomAD |
|
|
rs570305928 CA246509775 |
402 | V>E | No |
ClinGen Ensembl |
|
|
CA6905337 rs774865616 |
402 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905339 rs137918809 |
405 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6905340 rs137918809 |
405 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387472063 rs1281509940 |
407 | A>G | No |
ClinGen gnomAD |
|
|
rs941518598 CA246509805 |
408 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs941518598 CA387472070 |
408 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1482059434 CA387472066 |
408 | S>T | No |
ClinGen TOPMed |
|
|
CA387472072 rs1566247900 |
409 | Q>E | No |
ClinGen Ensembl |
|
|
CA387472092 rs1196263503 |
411 | V>G | No |
ClinGen TOPMed |
|
|
rs753880151 CA6905343 |
412 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6905344 rs367967021 |
414 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905346 rs752903332 |
415 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387472124 rs1225586483 |
416 | D>E | No |
ClinGen TOPMed |
|
|
rs1180197132 CA387472126 |
417 | L>V | No |
ClinGen gnomAD |
|
|
rs1474706850 CA387472161 |
422 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6905347 rs757112173 |
423 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387472174 rs1419478931 |
424 | T>A | No |
ClinGen gnomAD |
|
|
CA6905348 rs781011717 |
424 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1473050785 CA387472204 |
428 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387472208 rs1396877480 |
429 | K>E | No |
ClinGen gnomAD |
|
|
CA246509836 rs957162315 |
430 | D>G | No |
ClinGen Ensembl |
|
|
CA387472215 rs1310885063 |
430 | D>N | No |
ClinGen gnomAD |
|
|
rs1353772652 CA608572228 |
431 | Y>* | No |
ClinGen gnomAD |
|
|
rs749228909 CA6905372 |
434 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768319283 CA6905373 |
435 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6905374 rs768319283 |
435 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6905375 rs747827799 |
437 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905376 rs373316646 |
438 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905377 rs547326608 |
442 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547326608 CA6905378 |
442 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246512446 rs899601188 |
444 | K>R | No |
ClinGen Ensembl |
|
|
CA387472494 rs1454574170 |
445 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs9509307 CA387472511 |
446 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6905379 RCV000454792 VAR_046465 rs9509307 RCV002063663 |
446 | S>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387472509 rs9509307 |
446 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777188849 CA6905380 |
448 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760007756 CA6905381 |
450 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs765352147 CA6905382 |
450 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437825988 CA387472578 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs764319985 CA6905385 |
454 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387472609 rs1250560512 |
454 | T>I | No |
ClinGen TOPMed |
|
|
CA387472611 rs1303926913 |
455 | N>H | No |
ClinGen gnomAD |
|
|
CA387472616 rs1314751217 |
455 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387472625 rs1594417770 |
456 | L>V | No |
ClinGen Ensembl |
|
|
CA6905386 rs751716540 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6905388 rs766242235 |
461 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905389 rs753871853 |
462 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA387473176 rs1252488333 |
464 | K>E | No |
ClinGen TOPMed |
|
|
rs752567355 CA246517467 |
466 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270829941 CA387473197 |
467 | A>T | No |
ClinGen gnomAD |
|
|
CA387473226 rs1228085479 |
471 | S>G | No |
ClinGen TOPMed |
|
|
CA6905414 rs777117502 |
471 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs746725002 CA6905415 |
472 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA387473239 rs1484155950 |
473 | A>T | No |
ClinGen gnomAD |
|
|
rs138582529 CA246517497 |
474 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756856359 CA6905416 |
474 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138582529 CA246517498 |
474 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746171601 CA6905418 |
475 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs369442351 CA387473254 |
475 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905417 rs369442351 |
475 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770130451 CA6905419 |
477 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA246517533 rs973839736 |
480 | D>G | No |
ClinGen TOPMed |
|
|
CA6905421 rs749723372 |
480 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA246517540 rs1035049272 |
482 | Y>H | No |
ClinGen Ensembl |
|
|
CA387473312 rs1594503470 |
484 | P>L | No |
ClinGen Ensembl |
|
|
rs918418210 CA246517544 |
484 | P>S | No |
ClinGen TOPMed |
|
|
rs1432423129 CA387473341 |
489 | N>S | No |
ClinGen gnomAD |
|
|
CA387473348 rs1311922022 |
490 | K>T | No |
ClinGen gnomAD |
|
|
CA6905422 rs372979556 |
491 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs892444912 CA246517545 |
491 | G>R | No |
ClinGen Ensembl |
|
|
rs762129374 CA6905425 |
494 | V>F | No |
ClinGen ExAC |
|
|
rs1009526853 CA246517587 |
497 | N>H | No |
ClinGen Ensembl |
|
|
CA6905427 rs776584659 |
498 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1022626822 CA246517601 |
500 | Y>C | No |
ClinGen Ensembl |
|
|
CA6905428 rs759466614 |
500 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594504313 CA387473422 |
501 | E>D | No |
ClinGen Ensembl |
|
|
CA387473416 rs1208938371 |
501 | E>K | No |
ClinGen gnomAD |
|
|
CA387473420 rs1229614809 |
501 | E>V | No |
ClinGen gnomAD |
|
|
rs1279843651 CA387473435 |
503 | A>D | No |
ClinGen gnomAD |
|
|
rs551160953 CA6905430 COSM945888 |
504 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6905433 rs763684497 |
507 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs147424880 CA6905434 |
508 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780879691 CA6905436 |
509 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387473473 rs1237913864 |
509 | E>Q | No |
ClinGen TOPMed |
|
|
CA387473481 rs1453004645 |
510 | A>P | No |
ClinGen gnomAD |
|
|
rs750071942 CA6905437 |
511 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387473499 rs1566301619 |
513 | N>Y | No |
ClinGen Ensembl |
|
|
CA246517695 rs761773948 |
515 | S>F | No |
ClinGen Ensembl |
|
|
CA387473525 rs1315604171 |
517 | C>R | No |
ClinGen gnomAD |
|
|
rs1344095972 CA387473533 |
518 | T>S | No |
ClinGen gnomAD |
|
|
rs780256949 CA6905440 |
523 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA387473569 rs1368464447 |
523 | N>S | No |
ClinGen gnomAD |
|
|
CA6905464 rs143797877 |
525 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755524960 CA6905465 |
526 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA387473889 rs1229055620 |
527 | T>A | No |
ClinGen gnomAD |
|
|
CA6905467 rs537967756 |
528 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268420195 CA387473910 |
530 | K>E | No |
ClinGen gnomAD |
|
|
rs1292305754 CA387473926 |
532 | N>S | No |
ClinGen TOPMed |
|
|
CA6905470 rs747257976 |
532 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs147278996 CA387473929 |
533 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377167773 CA246520016 |
533 | R>Q | No |
ClinGen TOPMed |
|
|
CA6905471 rs147278996 |
533 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6905472 rs775367686 |
534 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA6905474 rs768493302 |
535 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6905473 RCV000905735 rs148732064 |
535 | D>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372847493 CA6905475 |
537 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761712414 CA6905476 |
539 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387473972 rs1330644120 |
540 | C>Y | No |
ClinGen TOPMed |
|
|
rs1407975381 CA387473999 |
544 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6905477 rs767032591 |
544 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407975381 CA387473998 |
544 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772666195 CA387474007 |
545 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs772666195 CA6905478 |
545 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6905480 rs146264538 |
546 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387474013 rs1353657403 |
546 | A>V | No |
ClinGen gnomAD |
|
|
CA387474019 rs1266578027 |
547 | I>T | No |
ClinGen gnomAD |
|
|
rs372386358 CA6905481 |
549 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372386358 CA6905482 |
549 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM182652 rs566601705 CA6905483 |
549 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753306486 CA6905484 |
550 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs758926941 CA6905485 |
551 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6905489 rs139357654 |
553 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777984685 CA6905487 |
553 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777984685 CA6905488 |
553 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276605866 CA387474062 |
555 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs4145579 CA246520164 |
556 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs749566598 CA246520161 |
556 | Y>C | No |
ClinGen TOPMed |
|
|
CA387474069 rs749566598 |
556 | Y>S | No |
ClinGen TOPMed |
|
|
CA387474079 rs1370101065 |
557 | Q>H | No |
ClinGen gnomAD |
|
|
CA6905491 rs768385474 |
558 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6905492 rs774079711 |
559 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905493 rs748111385 |
560 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA387474102 rs1430576937 |
561 | I>T | No |
ClinGen gnomAD |
|
|
rs746935260 CA6905516 |
565 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs746935260 CA387474143 |
565 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA387474166 rs1268341937 |
568 | P>S | No |
ClinGen TOPMed |
|
|
CA387474171 rs1455309085 |
569 | S>G | No |
ClinGen gnomAD |
|
|
CA387474178 rs776162848 |
570 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776162848 CA6905518 |
570 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6905519 rs776162848 |
570 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA387474180 rs1204438115 |
570 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1199890768 CA387474184 |
571 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387474196 rs1466237015 |
572 | I>M | No |
ClinGen gnomAD |
|
|
rs938988612 CA246521667 |
576 | M>I | No |
ClinGen Ensembl |
|
|
CA6905523 rs764519805 |
578 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763475487 CA6905522 |
578 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387474275 rs1261745517 |
580 | S>G | No |
ClinGen TOPMed |
|
|
rs752051994 CA6905524 |
580 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6905526 rs767524689 |
582 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6905527 rs750449166 |
584 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6905528 rs750449166 |
584 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs146631055 CA6905531 |
585 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387474364 rs1367360712 |
588 | V>L | No |
ClinGen gnomAD |
|
|
CA387474381 rs140243413 |
589 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302992478 CA387474395 |
591 | K>E | No |
ClinGen gnomAD |
|
|
CA387474451 rs746946612 |
596 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905533 rs746946612 |
596 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387474448 rs1314804176 |
596 | Y>H | No |
ClinGen gnomAD |
|
|
CA6905534 rs770865557 |
597 | D>G | No |
ClinGen ExAC |
|
|
rs369672253 CA6905535 |
598 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6905536 rs188470141 |
598 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188470141 CA6905537 |
598 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369672253 CA387474469 |
598 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17852822 CA246521793 |
599 | E>G | No |
ClinGen Ensembl |
|
|
CA6905538 rs775319781 |
600 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1192747967 CA387474551 |
605 | A>S | No |
ClinGen gnomAD |
|
|
rs373094049 CA6905540 |
610 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181540046 CA387474612 |
610 | Y>H | No |
ClinGen gnomAD |
|
|
rs1424959430 CA387475115 |
612 | S>L | No |
ClinGen gnomAD |
|
|
rs1353135343 CA387475130 |
613 | Y>C | No |
ClinGen gnomAD |
|
|
rs1478634020 CA387475135 |
614 | R>K | No |
ClinGen gnomAD |
|
|
rs1308291155 CA387475139 |
614 | R>S | No |
ClinGen gnomAD |
|
|
CA387475146 rs1372065523 |
615 | Y>* | No |
ClinGen gnomAD |
|
|
CA6905559 rs779659140 |
616 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1283149888 COSM1706509 CA387475157 |
617 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1379795395 CA387475192 |
620 | I>V | No |
ClinGen gnomAD |
|
|
CA387475203 rs1229961493 |
621 | E>K | No |
ClinGen gnomAD |
|
|
CA387475231 rs1293111587 |
623 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6905560 rs748976581 |
624 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1009279123 CA387475259 |
625 | W>* | No |
ClinGen gnomAD |
|
|
rs1009279123 CA246522625 |
625 | W>C | No |
ClinGen gnomAD |
|
|
CA6905561 rs76768372 |
627 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs143955467 CA6905562 |
628 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905563 rs748603147 |
629 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748805100 CA6905564 |
630 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA387475313 rs1410490930 |
630 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387475329 rs1350934184 |
631 | I>T | No |
ClinGen TOPMed |
|
|
CA387475339 rs1594581566 |
632 | D>Y | No |
ClinGen Ensembl |
|
|
CA6905565 rs772318137 |
634 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773811832 CA6905566 |
634 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449208852 CA387475366 |
634 | Q>P | No |
ClinGen gnomAD |
|
|
rs1449208852 CA387475368 |
634 | Q>R | No |
ClinGen gnomAD |
|
|
rs1594581765 CA387475398 |
636 | W>L | No |
ClinGen Ensembl |
|
|
CA387475414 rs1391613918 |
637 | E>D | No |
ClinGen gnomAD |
|
|
rs761148529 CA6905567 |
638 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs975454884 CA246522668 |
639 | A>T | No |
ClinGen TOPMed |
|
|
rs766469865 CA6905568 |
640 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450074277 CA387475453 |
641 | Q>E | No |
ClinGen gnomAD |
|
|
CA246522721 rs759762441 CA6905570 |
643 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246522684 rs868087406 |
643 | F>S | No |
ClinGen Ensembl |
|
|
CA6905571 rs765444887 |
647 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs752851395 CA6905572 |
649 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6905573 rs757112994 |
649 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752851395 CA387475522 |
649 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387475537 rs750405430 |
650 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6905575 rs750405430 |
650 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6905597 rs146456229 |
651 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387476034 rs1246908807 |
652 | T>A | No |
ClinGen gnomAD |
|
|
rs1478840420 CA387476092 |
656 | W>* | No |
ClinGen gnomAD |
|
|
rs1478840420 CA387476094 |
656 | W>C | No |
ClinGen gnomAD |
|
|
CA387476107 rs1410589533 |
657 | Q>H | No |
ClinGen gnomAD |
|
|
rs1179383894 CA387476097 |
657 | Q>K | No |
ClinGen gnomAD |
|
|
rs1388539905 CA387476146 |
661 | A>P | No |
ClinGen gnomAD |
|
|
VAR_046466 rs9552254 CA6905600 |
662 | S>G | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000957156 rs79942385 CA6905601 |
663 | C>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6905602 rs766482070 |
665 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA387476193 rs1330337298 |
665 | R>K | No |
ClinGen TOPMed |
|
|
CA246529209 rs1037071480 COSM311928 |
667 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1339032254 CA387476323 |
668 | G>D | No |
ClinGen TOPMed |
|
|
CA387476326 rs1296554556 |
669 | N>D | No |
ClinGen TOPMed |
|
|
rs1472259377 CA387476330 |
669 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777464164 CA6905628 |
670 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA6905629 rs751211754 |
671 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1052657687 CA246531512 |
672 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs974478747 CA387476384 |
675 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA246531528 rs974478747 |
675 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387476422 rs1594699837 |
678 | K>N | No |
ClinGen Ensembl |
|
|
rs1440168958 CA387476443 |
679 | D>V | No |
ClinGen TOPMed |
|
|
rs1415621049 CA387476448 |
680 | T>P | No |
ClinGen gnomAD |
|
|
CA387476458 rs1347598775 |
681 | H>D | No |
ClinGen TOPMed |
|
|
CA6905631 rs74996961 |
681 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757661778 CA6905630 |
681 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6905632 rs536388232 |
684 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376845716 CA6905633 |
687 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140279679 CA6905634 |
688 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1192015021 CA387476612 |
691 | L>M | No |
ClinGen TOPMed |
|
|
CA6905670 rs755503677 |
692 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143840290 CA6905671 COSM268408 |
692 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA246536945 rs1035804230 |
694 | L>* | No |
ClinGen Ensembl |
|
|
COSM945893 rs748181737 CA6905672 |
696 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6905673 rs373832683 |
696 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387476643 rs373832683 |
696 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777928903 CA6905674 |
697 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6905675 rs747226088 |
699 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769528440 CA6905677 |
700 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6905676 rs769528440 |
700 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA246536986 rs964369430 |
701 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs556520455 CA246536997 |
708 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6905679 rs556520455 |
708 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774255357 CA6905680 |
709 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246537008 rs868104278 |
710 | A>V | No |
ClinGen Ensembl |
|
|
rs1010692508 CA246537010 |
715 | R>G | No |
ClinGen Ensembl |
|
|
CA387476770 rs1445674871 |
716 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767023085 CA6905682 |
718 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387476793 rs1379865061 |
719 | M>L | No |
ClinGen gnomAD |
|
|
rs1295219404 CA387476820 |
722 | I>R | No |
ClinGen gnomAD |
|
|
CA6905683 rs772787348 |
722 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032388633 CA246537046 |
725 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6905685 rs766687371 |
725 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373718900 CA6905695 |
726 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905697 rs373718900 |
726 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs78898843 CA6905698 |
726 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373718900 CA6905696 |
726 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464701744 CA387477060 |
727 | I>L | No |
ClinGen gnomAD |
|
|
rs1461483311 CA387477065 |
727 | I>M | No |
ClinGen gnomAD |
|
|
CA387477078 rs1360419319 |
729 | S>L | No |
ClinGen TOPMed |
|
|
CA6905700 rs772737341 |
730 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6905699 rs147235446 |
730 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772737341 CA387477083 |
730 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1566437102 CA387477095 |
732 | D>G | No |
ClinGen Ensembl |
|
|
CA387477108 rs1476873767 |
734 | S>N | No |
ClinGen gnomAD |
|
|
rs953011390 CA246542302 |
735 | G>E | No |
ClinGen Ensembl |
|
|
rs770559035 CA6905702 |
738 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905703 rs544175473 |
738 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387477141 rs1324025239 |
740 | K>E | No |
ClinGen TOPMed |
|
|
rs753310520 CA6905706 |
742 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905707 rs763471939 |
743 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1347178523 CA387477179 |
745 | A>V | No |
ClinGen gnomAD |
|
|
CA246542323 rs959164321 |
746 | S>G | No |
ClinGen Ensembl |
|
|
rs764082843 CA387477184 |
746 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246542344 rs202072254 |
746 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764082843 CA6905708 |
746 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225473074 CA387477188 |
747 | G>D | No |
ClinGen gnomAD |
|
|
CA6905710 rs757268801 |
747 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770308243 CA6905723 |
748 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387477193 rs1251775666 |
748 | D>N | No |
ClinGen TOPMed |
|
|
rs138716049 CA6905725 |
750 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138716049 CA6905724 |
750 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6905726 rs764715617 |
752 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566137469 CA6905728 |
753 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767561703 CA6905729 |
754 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA387475044 rs1386085104 |
756 | S>G | No |
ClinGen gnomAD |
|
|
CA6905731 rs756288774 |
757 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566505247 CA387475076 |
759 | G>A | No |
ClinGen Ensembl |
|
|
CA246509879 rs746017151 |
760 | E>A | No |
ClinGen TOPMed |
|
|
CA246509870 rs746017151 |
760 | E>G | No |
ClinGen TOPMed |
|
|
rs752479820 CA6905733 |
761 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366987913 CA387475091 |
762 | L>P | No |
ClinGen TOPMed |
|
|
CA387475090 rs1366987913 |
762 | L>Q | No |
ClinGen TOPMed |
|
|
rs144721929 CA387475089 |
762 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777835152 CA6905735 |
763 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA387475099 rs1429504394 |
763 | S>T | No |
ClinGen TOPMed |
|
|
CA387475175 rs1188776994 |
767 | R>G | No |
ClinGen TOPMed |
|
|
CA6905737 rs756844455 |
769 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA246509894 rs902158703 |
769 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745550205 CA6905739 |
770 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780802564 CA6905738 |
770 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA246509900 rs764717392 |
772 | T>I | No |
ClinGen gnomAD |
|
|
rs1246663885 CA387475264 |
773 | N>S | No |
ClinGen TOPMed |
|
|
CA246509905 rs999175571 |
774 | E>G | No |
ClinGen TOPMed |
|
|
rs1276395362 CA387475307 |
776 | Y>C | No |
ClinGen gnomAD |
|
|
rs1183896713 CA387475353 |
779 | S>G | No |
ClinGen gnomAD |
|
|
rs775264617 CA6905741 |
780 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1186946062 CA387475385 |
781 | N>D | No |
ClinGen gnomAD |
|
|
CA387475402 rs1372765748 |
782 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6905742 rs749726010 |
782 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372033430 CA6905743 |
784 | I>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387475535 rs1320956544 |
786 | A>G | No |
ClinGen gnomAD |
|
|
rs369560434 CA6905763 |
787 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905764 rs369560434 |
787 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6905766 rs773696145 |
788 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA387475551 rs773696145 |
788 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6905765 rs773696145 |
788 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA387475570 rs1594982844 |
791 | P>T | No |
ClinGen Ensembl |
|
|
rs759631317 CA6905769 |
794 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261099178 CA387475592 |
795 | Q>E | No |
ClinGen gnomAD |
|
|
rs763983824 CA6905770 |
796 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1207144939 CA387475609 |
797 | E>G | No |
ClinGen gnomAD |
|
|
CA387475606 rs1158458042 |
797 | E>Q | No |
ClinGen TOPMed |
|
|
CA6905771 rs751249957 |
798 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs148569265 CA6905772 |
798 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776916841 CA6905774 |
799 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776916841 CA6905773 |
799 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905776 rs779381228 |
802 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs967166357 CA246510102 |
802 | A>V | No |
ClinGen TOPMed |
|
|
rs998972387 CA246510125 |
805 | K>E | No |
ClinGen Ensembl |
|
|
rs754520106 CA6905779 |
806 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs779347692 CA6905780 |
807 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA246510143 rs765834236 |
807 | I>V | No |
ClinGen gnomAD |
|
|
rs141704239 CA6905782 |
808 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748571032 CA6905781 |
808 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1348482594 CA387475678 |
809 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6905783 rs778294809 |
810 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA387475730 rs1263697542 |
816 | E>Q | No |
ClinGen TOPMed |
|
|
rs771024026 CA6905785 |
818 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6905784 rs747493878 |
818 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6905788 rs570887983 |
819 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6905789 rs532025198 |
820 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1285482 rs532025198 CA246510214 |
820 | D>Y | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs769854194 CA6905790 |
824 | E>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q13099
15 regional properties for Q13099
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Sel1-like repeat | 233 - 264 | IPR006597-1 |
| repeat | Sel1-like repeat | 450 - 481 | IPR006597-2 |
| repeat | Sel1-like repeat | 484 - 515 | IPR006597-3 |
| repeat | Sel1-like repeat | 586 - 617 | IPR006597-4 |
| repeat | Tetratricopeptide repeat | 197 - 229 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 233 - 266 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 272 - 305 | IPR019734-3 |
| repeat | Tetratricopeptide repeat | 415 - 448 | IPR019734-4 |
| repeat | Tetratricopeptide repeat | 450 - 483 | IPR019734-5 |
| repeat | Tetratricopeptide repeat | 484 - 517 | IPR019734-6 |
| repeat | Tetratricopeptide repeat | 518 - 551 | IPR019734-7 |
| repeat | Tetratricopeptide repeat | 552 - 585 | IPR019734-8 |
| repeat | Tetratricopeptide repeat | 586 - 619 | IPR019734-9 |
| repeat | Tetratricopeptide repeat | 620 - 653 | IPR019734-10 |
| repeat | Tetratricopeptide repeat | 654 - 687 | IPR019734-11 |
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| ciliary base | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
| ciliary tip | Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intraciliary transport particle B | The larger subcomplex of the intraciliary transport particle; characterized complexes have molecular weights around 550 kDa. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| non-motile cilium | A cilium which may have a variable array of axonemal microtubules but does not contain molecular motors. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| inner ear receptor cell stereocilium organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of inner ear receptor cells. |
| intraciliary anterograde transport | The directed movement of large protein complexes along microtubules from the cell body toward the tip of a cilium (also called flagellum), mediated by motor proteins. |
| intraciliary transport | The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| positive regulation of cilium assembly | Any process that activates or increases the frequency, rate or extent of the formation of a cilium. |
| regulation of autophagosome assembly | Any process that modulates the frequency, rate or extent of autophagosome assembly. |
| regulation of cilium assembly | Any process that modulates the frequency, rate or extent of cilium assembly. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMQNVHLAPE | TDEDDLYSGY | NDYNPIYDIE | ELENDAAFQQ | AVRTSHGRRP | PITAKISSTA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VTRPIATGYG | SKTSLASSIG | RPMTGAIQDG | VTRPMTAVRA | AGFTKAALRG | SAFDPLSQSR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GPASPLEAKK | KDSPEEKIKQ | LEKEVNELVE | ESCIANSCGD | LKLALEKAKD | AGRKERVLVR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QREQVTTPEN | INLDLTYSVL | FNLASQYSVN | EMYAEALNTY | QVIVKNKMFS | NAGILKMNMG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NIYLKQRNYS | KAIKFYRMAL | DQVPSVNKQM | RIKIMQNIGV | TFIQAGQYSD | AINSYEHIMS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MAPNLKAGYN | LTICYFAIGD | REKMKKAFQK | LITVPLEIDE | DKYISPSDDP | HTNLVTEAIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NDHLRQMERE | RKAMAEKYIM | TSAKLIAPVI | ETSFAAGYDW | CVEVVKASQY | VELANDLEIN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KAVTYLRQKD | YNQAVEILKV | LEKKDSRVKS | AAATNLSALY | YMGKDFAQAS | SYADIAVNSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RYNPAALTNK | GNTVFANGDY | EKAAEFYKEA | LRNDSSCTEA | LYNIGLTYEK | LNRLDEALDC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FLKLHAILRN | SAEVLYQIAN | IYELMENPSQ | AIEWLMQVVS | VIPTDPQVLS | KLGELYDREG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DKSQAFQYYY | ESYRYFPCNI | EVIEWLGAYY | IDTQFWEKAI | QYFERASLIQ | PTQVKWQLMV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ASCFRRSGNY | QKALDTYKDT | HRKFPENVEC | LRFLVRLCTD | LGLKDAQEYA | RKLKRLEKMK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EIREQRIKSG | RDGSGGSRGK | REGSASGDSG | QNYSASSKGE | RLSARLRALP | GTNEPYESSS |
| 790 | 800 | 810 | 820 | ||
| NKEIDASYVD | PLGPQIERPK | TAAKKRIDED | DFADEELGDD | LLPE |