Q6JQN1
PR
Gene name |
ACAD10 |
Protein name |
Acyl-CoA dehydrogenase family member 10 |
Names |
ACAD-10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80724 |
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 Q6JQN1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6JQN1-F1 | Predicted | AlphaFoldDB |
948 variants for Q6JQN1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386738438 rs1293721644 |
2 | C>R | No |
ClinGen gnomAD |
|
|
rs538251618 CA6791576 |
4 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 5 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307611083 CA386738490 |
5 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778600799 CA6791577 |
8 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs997152355 CA243652403 |
8 | Q>P | No |
ClinGen Ensembl |
|
|
COSM137590 rs1224836028 CA386738557 |
9 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386738553 rs1224836028 |
9 | S>Y | No |
ClinGen gnomAD |
|
|
CA386738569 rs1289173775 |
10 | P>L | No |
ClinGen gnomAD |
|
|
rs367549501 CA243652405 |
10 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA6791579 rs771861294 |
11 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146873324 CA6791580 |
11 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771861294 CA386738573 |
11 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457532953 CA386738583 |
12 | L>I | No |
ClinGen gnomAD |
|
|
CA386738597 rs1176542498 |
13 | Q>* | No |
ClinGen gnomAD |
|
|
rs1261533864 CA386738629 |
13 | Q>H | No |
ClinGen gnomAD |
|
|
rs748539689 CA6791581 |
14 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791584 rs763470989 |
15 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6791583 rs770092378 |
15 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6791582 rs770092378 |
15 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA386738672 rs1406577838 |
16 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759670620 CA6791587 |
19 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1329653451 CA386738723 |
21 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752904406 CA6791590 |
22 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791592 rs763821234 |
24 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1593011875 CA386738748 TCGA novel |
24 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs757269695 CA6791594 |
25 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6791595 rs764785788 |
26 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371322419 CA6791596 |
26 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371322419 CA386738774 |
26 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386738768 rs764785788 |
26 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374462831 CA6791598 |
28 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386738810 rs1235649914 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
rs746686935 CA6791599 |
29 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791600 rs756451163 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1566139372 CA386738847 |
31 | S>C | No |
ClinGen Ensembl |
|
|
rs148699934 CA6791602 |
33 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243652522 rs148204415 |
33 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791603 rs148204415 |
33 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243652525 rs1051015719 |
34 | W>* | No |
ClinGen TOPMed |
|
|
CA386738896 rs1051015719 |
34 | W>C | No |
ClinGen TOPMed |
|
|
CA386738884 rs1400632273 |
34 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774906858 CA6791604 |
35 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386738942 rs1333993066 |
37 | L>P | No |
ClinGen gnomAD |
|
|
rs368783737 CA243652551 |
41 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1169572261 CA386739011 |
42 | Y>C | No |
ClinGen TOPMed |
|
|
rs1216987669 CA386739018 |
43 | R>G | No |
ClinGen gnomAD |
|
|
rs903806011 CA243652563 |
43 | R>S | No |
ClinGen Ensembl |
|
|
CA6791608 rs760842107 |
44 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA243652569 rs936482892 |
44 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs372079522 CA6791610 |
45 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372079522 CA243652572 |
45 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376472877 CA6791612 |
47 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791613 rs765257592 |
48 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386739127 rs1245699583 |
49 | M>I | No |
ClinGen TOPMed |
|
|
rs150310415 CA6791615 |
49 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791614 rs576120196 |
49 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751183655 CA6791617 |
51 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs143590291 CA6791621 |
54 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386739267 rs1308197774 |
60 | V>D | No |
ClinGen TOPMed |
|
|
rs1360500893 CA386739266 |
60 | V>L | No |
ClinGen gnomAD |
|
|
CA6791625 rs775440015 |
61 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791626 rs866919326 |
63 | E>K | No |
ClinGen Ensembl |
|
|
rs1351336275 CA386727313 |
64 | W>C | No |
ClinGen gnomAD |
|
|
CA6791644 rs368845541 |
69 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791645 rs747059111 |
69 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768893203 COSM4166046 CA6791646 COSM4166047 |
70 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386727450 rs1269002331 |
71 | P>L | No |
ClinGen gnomAD |
|
|
rs1207594952 CA386727437 |
71 | P>S | No |
ClinGen gnomAD |
|
|
rs1468692915 CA386727477 |
73 | G>E | No |
ClinGen gnomAD |
|
|
CA6791647 rs781540176 |
74 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748402245 CA6791648 |
75 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161948251 CA386727552 |
78 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373035219 CA6791651 |
81 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6791652 rs770760703 |
82 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770760703 CA386727610 |
82 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA386727606 rs1459754672 |
82 | G>S | No |
ClinGen TOPMed |
|
|
rs774386907 CA6791653 |
83 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330363116 COSM1639040 CA386727617 |
84 | E>K | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1050271995 CA243631268 |
85 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758947928 CA6791654 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386727671 rs1566143600 |
91 | F>S | No |
ClinGen Ensembl |
|
|
CA6791655 rs767038504 |
92 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752308560 CA6791656 |
93 | R>T | No |
ClinGen ExAC |
|
|
CA6791658 rs138927383 |
97 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243631303 rs1004405801 |
100 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 102 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1266702641 | 102 | L>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377612660 CA6791661 |
103 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377612660 CA6791660 |
103 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243631314 rs554523146 |
103 | R>Q | No |
ClinGen Ensembl |
|
|
rs370649887 CA6791662 |
104 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA607350630 rs1179366885 |
109 | C>* | No |
ClinGen gnomAD |
|
|
CA386728368 rs1185432836 |
110 | S>C | No |
ClinGen gnomAD |
|
|
CA386728357 rs1423814785 |
110 | S>P | No |
ClinGen gnomAD |
|
|
rs781450340 CA6791664 |
111 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6791665 rs748312489 |
112 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386728412 rs1593018872 |
112 | M>T | No |
ClinGen Ensembl |
|
|
CA386728401 rs1475631090 |
112 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6791686 rs756328247 |
116 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6791688 rs144623113 COSM1511172 |
117 | V>M | lung Variant assessed as Somatic; 4.623e-05 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1566145359 CA386729115 |
119 | V>G | No |
ClinGen Ensembl |
|
|
CA243632740 rs1035651699 |
119 | V>M | No |
ClinGen Ensembl |
|
|
CA386729128 rs1206125313 |
121 | S>L | No |
ClinGen TOPMed |
|
|
CA243632747 rs148495995 |
124 | S>F | No |
ClinGen ESP TOPMed |
|
|
CA386729152 rs1359729170 |
125 | L>V | No |
ClinGen gnomAD |
|
|
rs1283065091 CA386729171 |
128 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1566145362 CA919174711 |
128 | S>H | No |
ClinGen Ensembl |
|
|
CA6791692 rs745750758 |
130 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs771986771 CA6791693 |
130 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243632757 rs375656467 |
131 | V>A | No |
ClinGen Ensembl |
|
|
rs1271634249 CA386729193 |
132 | A>T | No |
ClinGen TOPMed |
|
|
rs775475902 CA6791694 |
134 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791696 rs142819536 |
135 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243632767 rs377070570 |
136 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1175342771 CA386729234 |
138 | M>K | No |
ClinGen gnomAD |
|
|
rs1021065115 CA243632780 |
138 | M>V | No |
ClinGen gnomAD |
|
|
rs146082069 CA243632783 |
141 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386729260 rs1419029018 |
142 | I>V | No |
ClinGen gnomAD |
|
|
CA243632786 rs941036300 |
143 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200428782 CA6791698 |
144 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1346481369 CA386729286 |
146 | R>Q | No |
ClinGen gnomAD |
|
|
COSM3811025 COSM3811024 CA6791700 rs766583324 |
146 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs1292549488 CA386729289 |
147 | A>T | No |
ClinGen gnomAD |
|
|
CA6791701 rs760035282 |
149 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386729323 rs1306179706 |
152 | T>A | No |
ClinGen gnomAD |
|
|
CA386729327 rs1349155438 |
152 | T>I | No |
ClinGen gnomAD |
|
|
rs1240088860 CA386729328 |
153 | A>T | No |
ClinGen gnomAD |
|
|
rs371472927 CA243632803 |
154 | V>F | No |
ClinGen ESP TOPMed |
|
|
rs768133206 CA386729347 |
156 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791702 rs768133206 |
156 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386729354 rs1216646751 |
157 | N>D | No |
ClinGen gnomAD |
|
|
rs753296443 CA6791703 |
157 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756213811 CA6791705 |
158 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459093827 CA386729373 |
159 | F>L | No |
ClinGen gnomAD |
|
|
rs1253411974 CA386729388 |
161 | L>P | No |
ClinGen gnomAD |
|
|
CA243632819 rs1047900149 |
164 | Q>* | No |
ClinGen TOPMed |
|
|
CA386729423 rs1176739644 |
166 | S>T | No |
ClinGen gnomAD |
|
|
rs374287121 CA6791707 |
167 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374287121 CA243632826 |
167 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs910646232 CA243632829 |
169 | P>L | No |
ClinGen Ensembl |
|
|
rs1400761621 CA386729441 |
169 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757517475 CA386729457 |
172 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200380265 CA243632839 |
172 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757517475 CA6791709 |
172 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779064184 CA6791710 |
174 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA386729506 rs1372221310 |
176 | D>G | No |
ClinGen gnomAD |
|
|
rs1446561465 CA386729517 |
177 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6791731 rs779859192 |
178 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386730596 rs1422461645 |
181 | S>T | No |
ClinGen gnomAD |
|
|
rs751434789 CA6791732 |
182 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1422124792 CA386730626 |
183 | M>L | No |
ClinGen gnomAD |
|
|
rs1422124792 CA386730625 |
183 | M>V | No |
ClinGen gnomAD |
|
|
CA243634100 rs957573285 |
188 | K>R | No |
ClinGen Ensembl |
|
|
CA6791736 rs374096267 |
190 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 191 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748979050 CA6791738 |
193 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386730767 rs1218475378 |
194 | Y>C | No |
ClinGen gnomAD |
|
|
rs772497649 CA6791739 |
194 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791740 rs776008885 |
197 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs921288716 CA243634125 |
197 | C>S | No |
ClinGen Ensembl |
|
|
rs769198815 CA6791742 |
199 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260784975 CA386730885 |
200 | Q>* | No |
ClinGen TOPMed |
|
|
CA6791743 VAR_031811 rs35276160 |
200 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386730986 rs1306242921 |
203 | L>Q | No |
ClinGen TOPMed |
|
|
CA243634141 rs910040852 |
209 | I>M | No |
ClinGen TOPMed |
|
|
rs367967897 CA6791749 |
209 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243634148 rs911688374 |
210 | F>L | No |
ClinGen gnomAD |
|
|
rs1360012949 CA386731181 |
211 | L>F | No |
ClinGen gnomAD |
|
|
rs1380641715 CA386731192 |
211 | L>P | No |
ClinGen gnomAD |
|
|
rs766107649 CA6791751 |
212 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1386022022 CA386731200 |
212 | D>N | No |
ClinGen TOPMed |
|
|
rs199662727 CA6791752 |
214 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35753710 VAR_031812 CA6791754 |
216 | T>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs752626361 CA6791755 |
216 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6791756 rs148269182 |
219 | K>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA386731407 rs1174788544 |
220 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369920047 CA6791757 |
223 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6791758 rs748890855 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386731499 rs770692301 |
225 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6791759 rs770692301 |
225 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA386731524 rs1206428283 |
227 | H>R | No |
ClinGen gnomAD |
|
|
CA386731540 rs1566147360 |
229 | I>V | No |
ClinGen Ensembl |
|
|
rs747365185 CA6791761 |
230 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768947668 CA6791762 |
230 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386733424 rs1259178500 |
231 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1259178500 CA386733418 |
231 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs566109462 CA6791811 |
234 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273189260 CA386733513 |
235 | E>G | No |
ClinGen gnomAD |
|
|
rs770958548 CA386733553 |
237 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs770958548 CA6791813 |
237 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195389633 CA386733586 |
238 | V>I | No |
ClinGen gnomAD |
|
|
rs778871948 CA6791814 |
239 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 248 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760521856 CA6791819 |
250 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6791820 rs768590769 |
251 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386734027 rs1394251018 |
251 | V>I | No |
ClinGen gnomAD |
|
|
CA6791821 rs150051004 |
252 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386734109 rs1368996012 |
253 | V>D | No |
ClinGen gnomAD |
|
|
rs887353946 CA243635326 |
257 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6791822 rs761842814 |
257 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386734201 rs1216813648 |
259 | V>M | No |
ClinGen gnomAD |
|
|
CA386734234 rs1272830562 |
261 | K>Q | No |
ClinGen gnomAD |
|
|
rs1006251249 CA243635342 |
262 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs377588715 CA6791825 |
263 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253546375 CA386734269 |
263 | M>V | No |
ClinGen gnomAD |
|
|
rs145407775 CA6791826 |
266 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419265218 CA386734345 |
267 | K>E | No |
ClinGen gnomAD |
|
|
CA386734349 rs1405094424 |
267 | K>T | No |
ClinGen TOPMed |
|
|
CA386734421 rs1566148916 |
271 | Q>K | No |
ClinGen Ensembl |
|
|
CA243635359 rs899143118 |
273 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386734503 rs1442141786 |
275 | K>* | No |
ClinGen gnomAD |
|
|
CA386734567 rs1375584957 |
278 | L>P | No |
ClinGen gnomAD |
|
|
CA6791832 rs779538803 |
279 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779538803 CA386734580 |
279 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757691564 CA6791831 |
279 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386734589 rs1490122330 |
280 | I>V | No |
ClinGen TOPMed |
|
|
rs1234835448 CA386734608 |
281 | Q>* | No |
ClinGen gnomAD |
|
|
CA386734643 rs1286559288 |
283 | T>A | No |
ClinGen TOPMed |
|
|
CA243636435 rs376407610 |
284 | G>D | No |
ClinGen ESP TOPMed |
|
|
rs137994931 CA6791853 |
285 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA243636441 rs137994931 |
285 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780281277 CA6791852 |
285 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047103381 CA243636445 |
286 | L>S | No |
ClinGen TOPMed |
|
|
rs905161642 CA243636451 |
287 | E>Q | No |
ClinGen TOPMed |
|
|
CA386735115 rs1475283922 |
290 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386735133 rs1185212535 |
293 | H>Y | No |
ClinGen gnomAD |
|
|
rs747866176 CA6791856 COSM1511170 |
294 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6791857 rs538600918 |
295 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386735150 rs1173034581 |
295 | Q>R | No |
ClinGen gnomAD |
|
|
CA386735159 rs772975056 |
297 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772975056 CA6791858 |
297 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791859 rs749280557 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243636476 rs554022849 |
301 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554022849 CA6791861 |
301 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6791862 rs759112696 |
302 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386735202 CA6791864 rs775170783 |
303 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791865 rs370830694 |
305 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791867 COSM430336 rs750824318 |
307 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA243636492 rs200875074 |
307 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA386735233 rs1444927651 |
309 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386735234 rs1444927651 |
309 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 311 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386735248 rs1191413177 |
311 | L>P | No |
ClinGen gnomAD |
|
|
rs1250314858 CA386735250 |
312 | R>W | No |
ClinGen gnomAD |
|
|
CA6791869 rs767055373 |
316 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902382773 CA243636522 |
316 | P>L | No |
ClinGen Ensembl |
|
|
rs767055373 CA6791870 |
316 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755151258 CA6791871 |
317 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6791873 rs748425597 |
318 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319989354 CA386735297 |
320 | L>I | No |
ClinGen gnomAD |
|
|
CA243636536 rs935057776 |
321 | P>A | No |
ClinGen gnomAD |
|
|
CA243636539 rs1053542742 |
322 | S>F | No |
ClinGen gnomAD |
|
|
rs755827248 CA6791874 |
323 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1346739933 CA683628048 |
330 | F>* | No |
ClinGen TOPMed |
|
|
CA386735363 rs1593029457 |
330 | F>V | No |
ClinGen Ensembl |
|
|
rs374283525 CA6791877 |
331 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791878 rs774312696 |
331 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791896 rs778771340 |
331 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386735371 rs774312696 |
331 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025210902 CA243639276 |
336 | L>F | No |
ClinGen Ensembl |
|
|
rs779624721 CA6791900 |
337 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs192640383 CA6791899 |
337 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746554363 CA6791902 |
338 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs746554363 CA6791901 |
338 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386735722 rs1394324480 |
342 | P>R | No |
ClinGen gnomAD |
|
|
rs774959837 CA6791906 |
344 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752809036 CA6791909 CA6791910 |
345 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765886252 CA6791908 |
345 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6791911 rs764354893 |
346 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA243639310 rs150790771 |
348 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386735763 rs1489845435 |
349 | L>R | No |
ClinGen TOPMed |
|
|
rs1374910622 CA386735759 |
349 | L>V | No |
ClinGen gnomAD |
|
|
rs1338021025 CA607354313 |
350 | C>* | No |
ClinGen gnomAD |
|
|
CA386736793 rs1412239632 |
355 | V>A | No |
ClinGen TOPMed |
|
|
rs767554445 CA6791934 |
355 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA243647160 rs967540247 |
356 | I>T | No |
ClinGen gnomAD |
|
|
CA386736831 rs1593039774 |
358 | T>P | No |
ClinGen Ensembl |
|
|
rs754474740 CA6791936 |
358 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA386736849 rs1250498338 |
359 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243647174 rs557210190 |
361 | Y>C | No |
ClinGen gnomAD |
|
|
CA386736934 rs1566157569 |
363 | M>I | No |
ClinGen Ensembl |
|
|
rs780573782 CA6791937 |
363 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193503846 CA386736987 |
366 | C>R | No |
ClinGen Ensembl |
|
|
CA386737017 rs1220485792 |
367 | P>L | No |
ClinGen TOPMed |
|
|
CA243647184 rs978410826 |
368 | G>D | No |
ClinGen Ensembl |
|
|
rs747745769 CA6791940 |
369 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200607092 CA6791941 |
372 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791942 rs777637232 |
373 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA243647211 rs373192095 |
374 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1172879377 CA386737119 |
374 | P>T | No |
ClinGen gnomAD |
|
|
CA386737140 rs1388621947 |
375 | S>F | No |
ClinGen TOPMed |
|
|
CA6791943 rs746211373 |
375 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1467092600 CA386737166 |
377 | P>L | No |
ClinGen gnomAD |
|
|
CA6791946 rs747474122 |
377 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768720282 CA6791947 |
380 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6791948 rs776675002 |
381 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs975664219 CA243647240 |
383 | H>Y | No |
ClinGen TOPMed |
|
|
CA386737255 rs1418042649 |
384 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA243647243 rs541455128 |
384 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541455128 CA6791949 |
384 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773475147 CA386737260 |
385 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773475147 CA6791951 |
385 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762763032 CA386737261 |
385 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791952 rs762763032 |
385 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386737263 rs1394320296 |
386 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386737273 rs1390949406 |
387 | I>M | No |
ClinGen gnomAD |
|
|
rs941483600 CA243647251 |
387 | I>T | No |
ClinGen gnomAD |
|
|
CA6791953 rs530140051 |
387 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6791954 rs751451380 |
389 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386737282 rs1220451888 |
389 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749480203 CA243647258 |
390 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749480203 CA6791956 |
390 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791955 rs375092571 |
390 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752253650 CA386737291 |
391 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752253650 CA6791957 |
391 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235435595 CA386737312 |
394 | V>I | No |
ClinGen TOPMed |
|
|
rs755727414 CA6791958 |
396 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6791960 rs777516851 |
397 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791959 rs777516851 |
397 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038365580 CA243647270 |
397 | K>R | No |
ClinGen Ensembl |
|
|
rs758721322 CA6791961 |
398 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs774510931 | 399 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6791963 rs780292003 |
400 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs542306618 CA243647281 |
400 | S>T | No |
ClinGen 1000Genomes |
|
|
CA243647291 rs908055923 |
401 | V>M | No |
ClinGen TOPMed |
|
|
CA6791964 rs747460658 |
402 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs962267406 CA243647301 |
403 | L>Q | No |
ClinGen TOPMed |
|
|
rs11066013 CA243647297 |
403 | L>V | No |
ClinGen Ensembl |
|
|
CA6791965 rs769037433 |
404 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386737381 rs1318907523 |
405 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1160304006 CA386737413 |
410 | D>G | No |
ClinGen gnomAD |
|
|
rs369542306 CA6791966 |
411 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791967 rs143739010 |
413 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386737444 rs1172862011 |
414 | Q>H | No |
ClinGen TOPMed |
|
|
rs1226135116 CA386737651 |
416 | D>E | No |
ClinGen gnomAD |
|
|
rs748687718 CA6791984 |
417 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386737667 rs1342233383 |
419 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575221081 CA6791985 |
420 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6791986 rs777848159 |
420 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA386737680 rs1443847494 |
421 | Q>R | No |
ClinGen gnomAD |
|
|
CA6791987 rs749444698 |
422 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386737684 rs749444698 |
422 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6791988 COSM254501 rs771054986 |
423 | R>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs771054986 CA386737689 |
423 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774676511 CA386737690 |
423 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791989 rs774676511 |
423 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772022884 CA6791991 |
425 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs199879065 CA6791990 |
425 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6791992 rs775499829 |
426 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386737705 rs775499829 |
426 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6791993 rs146335507 |
430 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539577212 CA6791994 |
430 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386737749 rs1334526096 |
431 | A>T | No |
ClinGen gnomAD |
|
|
rs1003937717 CA243648668 |
431 | A>V | No |
ClinGen TOPMed |
|
|
rs200769692 CA6791996 |
433 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322390193 CA386737841 |
437 | I>T | No |
ClinGen gnomAD |
|
|
rs1209781354 CA386737834 |
437 | I>V | No |
ClinGen gnomAD |
|
|
CA243648676 rs1054802405 |
438 | P>T | No |
ClinGen Ensembl |
|
|
rs770565944 CA243648695 |
439 | A>G | No |
ClinGen Ensembl |
|
|
rs750115811 CA6791998 |
440 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386737870 rs1232913728 |
440 | M>V | No |
ClinGen gnomAD |
|
|
CA386737895 rs1566158658 |
441 | E>G | No |
ClinGen Ensembl |
|
|
CA386737904 rs1165951045 |
442 | R>W | No |
ClinGen TOPMed |
|
|
rs540444011 CA243648701 |
444 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148547215 CA6792001 |
445 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792002 rs753148624 |
446 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA386737990 rs1593041296 |
448 | P>A | No |
ClinGen Ensembl |
|
|
CA6792006 rs370592166 |
448 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1465791323 CA386738001 |
449 | L>F | No |
ClinGen gnomAD |
|
|
rs1593041315 CA386738006 |
449 | L>P | No |
ClinGen Ensembl |
|
|
CA386738017 rs151106801 |
450 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792008 COSM1241957 rs151106801 |
450 | H>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs746104743 CA6792009 |
451 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs771935027 CA6792010 |
452 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs771935027 CA386738041 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs375729084 CA6792011 |
453 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368642732 CA6792012 |
453 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792013 rs368642732 |
453 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792014 rs141115291 |
456 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761176157 CA6792015 |
457 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792017 rs772676900 |
459 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA243648811 rs955340956 |
459 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386738145 rs1593041361 |
460 | V>G | No |
ClinGen Ensembl |
|
|
rs1278521744 CA386738151 |
461 | H>Y | No |
ClinGen gnomAD |
|
|
CA386738172 rs1173325917 |
462 | G>A | No |
ClinGen gnomAD |
|
|
CA243648817 rs996095774 |
462 | G>R | No |
ClinGen gnomAD |
|
|
rs36046440 CA6792019 VAR_031813 |
463 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386738190 rs753056489 |
464 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs753056489 CA6792020 |
464 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6792021 rs756511585 |
465 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6792044 rs758595982 |
467 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282647714 CA386739319 |
468 | N>K | No |
ClinGen gnomAD |
|
|
CA6792045 rs141973586 |
469 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747263800 CA386739328 |
470 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747263800 CA6792046 |
470 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243652422 rs756215588 |
474 | E>D | No |
ClinGen Ensembl |
|
|
rs781056984 CA6792048 |
476 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386739398 rs1198490294 |
478 | V>G | No |
ClinGen gnomAD |
|
|
rs997869651 CA243652451 |
478 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386739405 rs1186862049 |
479 | L>V | No |
ClinGen TOPMed |
|
|
rs747954484 CA6792049 |
481 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747954484 CA6792050 |
481 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243652464 rs763337739 |
483 | D>E | No |
ClinGen gnomAD |
|
|
CA6792051 rs200301785 |
484 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386739448 rs1388260845 |
484 | W>* | No |
ClinGen gnomAD |
|
|
rs1168748017 CA386739453 |
485 | E>K | No |
ClinGen gnomAD |
|
|
rs1461949355 CA386739482 |
488 | T>S | No |
ClinGen TOPMed |
|
|
rs1201923835 CA386739491 |
489 | L>S | No |
ClinGen TOPMed |
|
|
rs773955332 CA6792054 |
491 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386739514 rs1274383922 |
492 | P>S | No |
ClinGen TOPMed |
|
|
rs1320394491 CA386739534 |
494 | A>D | No |
ClinGen gnomAD |
|
|
CA386739531 rs1337811828 |
494 | A>T | No |
ClinGen TOPMed |
|
|
CA386739551 rs201719680 |
496 | V>A | No |
ClinGen gnomAD |
|
|
CA243652498 rs201719680 |
496 | V>G | No |
ClinGen gnomAD |
|
|
CA243652492 rs200923059 |
496 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 497 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6792056 rs759198342 |
497 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771678522 CA6792057 |
497 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386739566 rs1239063994 |
498 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386739571 rs1156640170 |
499 | S>G | No |
ClinGen gnomAD |
|
|
CA6792059 rs199529402 |
500 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765748511 CA6792060 |
503 | H>Y | No |
ClinGen ExAC |
|
|
CA6792061 rs750986955 |
504 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs763084868 CA6792063 |
510 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766574091 CA6792064 |
510 | P>L | No |
ClinGen ExAC |
|
| TCGA novel | 511 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376167606 CA243652580 |
511 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792066 rs376167606 |
511 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965958664 CA243652595 |
514 | G>S | No |
ClinGen TOPMed |
|
|
CA6792090 rs757181387 |
514 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA386739788 rs1223099786 |
515 | I>T | No |
ClinGen gnomAD |
|
|
rs768987165 CA243655525 |
515 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 517 | D>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386739817 rs1265558173 |
519 | D>Y | No |
ClinGen gnomAD |
|
|
CA386739835 rs1169474097 |
521 | T>I | No |
ClinGen TOPMed |
|
|
rs1431663594 CA386739845 |
523 | L>V | No |
ClinGen TOPMed |
|
|
rs1202525674 CA386739853 |
524 | G>A | No |
ClinGen gnomAD |
|
|
CA6792093 rs777201947 |
526 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253538718 CA386739864 |
526 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1178203660 CA386739878 |
528 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 531 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 531 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424597132 CA386739912 |
533 | R>G | No |
ClinGen Ensembl |
|
|
rs200513101 CA6792097 |
534 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746643943 CA6792096 |
534 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM935094 CA6792098 rs773702363 CA386739932 |
535 | Y>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386739930 rs1256282716 |
535 | Y>S | No |
ClinGen TOPMed |
|
|
CA243655610 rs931934400 |
538 | Q>H | No |
ClinGen Ensembl |
|
|
CA386739956 rs1270329822 |
539 | M>L | No |
ClinGen TOPMed |
|
|
CA386739971 rs1283432849 |
541 | L>F | No |
ClinGen gnomAD |
|
|
rs759612346 CA6792102 COSM692110 |
542 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6792103 rs767526611 |
543 | P>L | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA243655616 rs540437378 |
544 | T>A | No |
ClinGen Ensembl |
|
|
CA386739988 rs1357048639 |
544 | T>S | No |
ClinGen TOPMed |
|
|
rs148867702 CA6792105 |
546 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225548921 CA386740001 |
546 | N>T | No |
ClinGen gnomAD |
|
|
rs370345730 CA6792106 |
550 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386740045 TCGA novel rs1593046478 |
551 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs753599129 CA6792107 |
554 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243655640 rs1029251034 |
556 | F>L | No |
ClinGen TOPMed |
|
|
rs757093336 CA6792108 |
556 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386740079 COSM291202 rs1386418582 |
557 | R>C | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6792109 rs34912642 |
557 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792112 rs35716113 |
560 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792111 rs757857362 |
560 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6792115 rs754674188 |
563 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs528862156 CA6792116 |
563 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 566 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386740142 rs1340682813 |
567 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6792117 rs544200576 |
568 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs994022748 CA243655674 |
568 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1048580551 CA243655690 |
569 | S>* | No |
ClinGen Ensembl |
|
|
CA6792119 rs774885089 |
569 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386740801 rs1443184577 |
572 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 572 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780656301 CA6792141 |
573 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792142 rs747037768 |
574 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs980873983 CA243665202 |
575 | S>N | No |
ClinGen Ensembl |
|
|
rs1321067457 CA386740824 |
576 | S>P | No |
ClinGen gnomAD |
|
|
CA6792143 rs192237004 |
578 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386740837 rs1169387848 |
578 | Y>H | No |
ClinGen TOPMed |
|
|
CA386740846 rs533004686 |
579 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533004686 CA6792144 |
579 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6792146 rs770109466 |
580 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386740867 rs1184050814 |
582 | T>I | No |
ClinGen TOPMed |
|
|
CA6792147 rs772879598 |
585 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386740887 rs1474846580 |
586 | T>A | No |
ClinGen gnomAD |
|
|
CA386740889 rs1194211862 |
586 | T>N | No |
ClinGen gnomAD |
|
|
CA6792149 rs766204833 |
587 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490869081 CA386740903 |
588 | F>S | No |
ClinGen gnomAD |
|
|
rs751565078 CA6792150 |
590 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6792151 rs372475122 |
593 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183799240 CA386740933 |
593 | A>V | No |
ClinGen gnomAD |
|
|
CA6792153 rs752343559 |
595 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792156 rs377499155 |
597 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792155 rs377499155 |
597 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306952919 CA386741007 |
601 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386741009 COSM1181504 rs1306952919 |
601 | G>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs752111671 CA243665364 |
603 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6792157 rs758809035 |
603 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs755381658 CA243665385 |
608 | M>K | No |
ClinGen Ensembl |
|
|
CA243665391 rs755381658 |
608 | M>T | No |
ClinGen Ensembl |
|
|
rs747518634 CA6792160 |
609 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1414548605 CA386741114 |
609 | P>S | No |
ClinGen gnomAD |
|
|
rs142709066 CA6792161 |
611 | T>A | No |
ClinGen ESP ExAC |
|
|
CA386741166 rs1279452264 |
613 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs892604410 CA243665416 |
613 | P>T | No |
ClinGen gnomAD |
|
|
rs748295309 CA6792163 |
615 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386741199 rs1225387143 |
616 | R>S | No |
ClinGen gnomAD |
|
|
CA6792164 rs769876908 |
616 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566166266 CA386741205 |
617 | S>C | No |
ClinGen Ensembl |
|
|
CA6792166 rs138790472 |
618 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138790472 CA6792167 |
618 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386741227 rs1489573181 |
619 | H>Y | No |
ClinGen TOPMed |
|
|
rs1251428097 CA386741247 COSM935095 |
620 | T>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1441657065 CA386741260 |
621 | W>* | No |
ClinGen gnomAD |
|
|
CA6792169 rs759562746 |
622 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752221098 CA6792171 |
625 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs141959148 CA6792172 |
626 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463234842 CA386741335 |
627 | Q>H | No |
ClinGen gnomAD |
|
|
CA6792173 rs112401787 |
627 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112401787 CA6792174 |
627 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792175 rs758623427 |
629 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA243665488 rs1019337858 |
629 | C>Y | No |
ClinGen TOPMed |
|
|
rs766742281 CA6792176 |
632 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741396 rs1316862501 |
633 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 633 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566166314 CA386741407 |
634 | R>G | No |
ClinGen Ensembl |
|
|
CA386741426 rs1332768204 |
635 | S>I | No |
ClinGen gnomAD |
|
|
CA243665516 rs998474855 |
639 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs139313175 CA386741470 |
639 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs998474855 CA386741473 |
639 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1737597 rs139313175 CA6792181 |
639 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373670200 CA6792182 |
641 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792183 rs749534694 |
642 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1244878604 CA386741517 |
644 | P>A | No |
ClinGen gnomAD |
|
|
rs1439715636 CA386741523 |
644 | P>L | No |
ClinGen TOPMed |
|
|
rs1461750218 CA386741542 |
646 | H>R | No |
ClinGen gnomAD |
|
|
rs770577035 CA6792184 |
647 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6792185 rs201684179 |
648 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388654798 CA386741558 |
648 | S>A | No |
ClinGen TOPMed |
|
|
CA386741587 rs1445174779 |
650 | G>E | No |
ClinGen gnomAD |
|
|
CA6792186 rs550680843 |
650 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs983953065 CA243665568 |
651 | G>S | No |
ClinGen Ensembl |
|
|
CA386741592 rs1566166404 |
651 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 653 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6792189 rs149610201 |
654 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792188 rs149610201 |
654 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763660106 CA6792190 |
655 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1393498225 CA386741614 |
656 | P>T | No |
ClinGen TOPMed |
|
|
CA6792192 rs34486571 |
660 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144351777 CA6792193 |
661 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144351777 CA386741650 |
661 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144351777 CA386741651 |
661 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792194 rs751888931 |
662 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751888931 CA386741656 |
662 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA386741654 rs1203496669 |
662 | P>S | No |
ClinGen TOPMed |
|
|
CA386741661 rs1593051733 |
663 | V>A | No |
ClinGen Ensembl |
|
|
rs767963244 CA6792196 |
665 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6792195 rs755385510 |
665 | E>V | No |
ClinGen ExAC |
|
|
rs1394088825 CA386741686 |
667 | Y>C | No |
ClinGen gnomAD |
|
|
rs1264815697 CA386741691 |
668 | H>Y | No |
ClinGen gnomAD |
|
|
CA6792200 rs756084470 |
669 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756084470 CA6792201 |
669 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792198 rs980566161 |
669 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs148795385 CA6792202 |
673 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792203 CA6792204 rs372199304 |
674 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386741742 rs1363038157 |
676 | Q>* | No |
ClinGen gnomAD |
|
|
CA243665684 rs368355800 |
677 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368355800 CA243665674 |
677 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs772020689 CA6792206 |
677 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741757 rs1303427388 |
678 | V>A | No |
ClinGen TOPMed |
|
|
CA6792207 rs539997388 |
678 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1478839309 CA386741762 |
679 | Y>C | No |
ClinGen Ensembl |
|
|
CA386741761 rs1478839309 |
679 | Y>S | No |
ClinGen Ensembl |
|
|
CA6792210 rs776198053 |
680 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6792211 rs761268033 |
680 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792213 rs772874994 |
685 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741811 rs1403288822 |
687 | S>G | No |
ClinGen gnomAD |
|
|
rs1375041998 CA386741845 |
691 | S>L | No |
ClinGen TOPMed |
|
|
CA6792217 rs759854443 |
692 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741853 rs1428053670 |
693 | A>S | No |
ClinGen TOPMed |
|
|
rs767873253 CA6792218 |
693 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372387137 CA386741876 |
696 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372387137 CA6792219 |
696 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144887834 CA6792220 |
696 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372387137 CA386741875 |
696 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147958599 CA6792224 |
702 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757432655 CA6792225 |
704 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741934 rs1224183363 |
705 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6792249 rs781146771 |
707 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748082592 CA6792250 |
710 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs375978625 CA6792252 |
711 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243666585 rs1002300327 |
712 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1398955492 CA386742148 |
713 | L>F | No |
ClinGen TOPMed |
|
|
rs370370896 CA243666598 |
715 | N>K | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs777255876 CA6792254 |
716 | L>I | No |
ClinGen ExAC |
|
|
CA386742196 rs1205743129 |
716 | L>P | No |
ClinGen gnomAD |
|
|
CA386742202 rs1243054791 |
717 | F>L | No |
ClinGen gnomAD |
|
|
CA6792256 rs770589411 |
720 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792257 rs773927736 |
721 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374399374 CA6792259 |
725 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374399374 CA6792260 |
725 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410312785 CA386742299 |
725 | E>V | No |
ClinGen gnomAD |
|
|
rs1175153300 CA386742307 |
726 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243666654 rs200585723 |
727 | K>R | No |
ClinGen TOPMed |
|
|
rs762392792 CA6792261 |
728 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6792263 rs773394166 |
729 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA243666702 rs965337450 |
730 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6792264 rs144218728 |
732 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386742348 rs1447726567 |
733 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386742347 rs1447726567 |
733 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6792265 rs151165360 |
734 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1337739268 CA386742378 |
737 | Y>* | No |
ClinGen TOPMed |
|
|
rs1215494551 CA386742384 |
738 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386742396 rs1333836830 |
740 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386742406 rs1238047472 |
742 | E>K | No |
ClinGen gnomAD |
|
|
CA386742432 rs1446500627 |
745 | G>D | No |
ClinGen gnomAD |
|
|
rs1264313958 CA386742430 |
745 | G>R | No |
ClinGen gnomAD |
|
|
CA243666739 rs932733697 |
746 | T>A | No |
ClinGen TOPMed |
|
|
rs767230315 CA386742437 |
746 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767230315 CA6792268 |
746 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386742449 rs1190858135 |
748 | L>P | No |
ClinGen gnomAD |
|
|
CA6792270 rs756045472 |
749 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752549796 CA6792269 |
749 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271933235 CA386742467 |
751 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs150349412 CA6792272 |
752 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143862876 CA6792292 |
757 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792295 rs545041174 |
758 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA6792296 rs756732035 |
759 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA386742542 rs375235910 |
761 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375235910 CA6792297 |
761 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 762 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779902349 CA6792300 |
763 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748473787 CA386742558 CA386742557 |
764 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243667615 rs903182175 |
764 | M>T | No |
ClinGen TOPMed |
|
|
rs748473787 CA6792301 |
764 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435881876 CA386742573 |
766 | L>V | No |
ClinGen gnomAD |
|
|
rs749774661 CA6792304 |
772 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386742615 rs753263645 |
773 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792306 rs753263645 |
773 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386742625 rs759706100 |
774 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs759706100 CA6792307 COSM935098 |
774 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1318080104 CA386742628 |
775 | Q>* | No |
ClinGen gnomAD |
|
|
rs1032248158 CA243667696 |
775 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6792308 rs777087961 |
777 | A>* | No |
ClinGen ExAC |
|
|
rs190926321 CA6792309 |
778 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190926321 CA386742648 |
778 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775714851 CA386742649 |
778 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs775714851 CA6792310 |
778 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA6792312 rs763887326 |
779 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs760392194 CA6792311 |
779 | W>R | No |
ClinGen ExAC |
|
|
CA6792313 rs549647863 |
780 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6792314 rs761648345 |
787 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361711864 CA386742714 |
789 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM692108 rs765259177 CA6792315 |
789 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA243667789 rs927188480 |
790 | S>Y | No |
ClinGen TOPMed |
|
|
CA6792317 rs561459390 |
794 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779812538 CA6792318 |
794 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386742746 rs779812538 |
794 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792316 rs561459390 |
794 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386742754 rs1197402012 |
795 | T>S | No |
ClinGen gnomAD |
|
|
CA6792320 rs756489569 |
796 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181713247 CA386742776 |
798 | Q>H | No |
ClinGen gnomAD |
|
|
CA386742773 rs1239431516 |
798 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs891786696 CA243668040 |
801 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 802 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772621293 CA6792344 |
803 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA243668056 rs1033404281 |
805 | T>A | No |
ClinGen Ensembl |
|
|
CA386743024 rs1324252730 |
805 | T>I | No |
ClinGen gnomAD |
|
|
rs138769725 CA386743044 |
807 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792346 rs138769725 |
807 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243668081 rs899846279 |
811 | I>V | No |
ClinGen gnomAD |
|
|
rs996463303 CA243668092 |
812 | R>K | No |
ClinGen Ensembl |
|
|
CA6792349 rs758109154 |
818 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386743172 rs1593053697 |
818 | Y>H | No |
ClinGen Ensembl |
|
|
rs1028915853 CA243668117 |
820 | I>V | No |
ClinGen TOPMed |
|
|
rs1239710163 CA386743191 |
821 | N>H | No |
ClinGen TOPMed |
|
|
CA6792350 rs141918583 |
821 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143673663 CA6792352 |
822 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766492622 CA6792353 |
825 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1455413560 CA386743230 |
826 | W>* | No |
ClinGen gnomAD |
|
|
CA6792354 rs773970103 |
828 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386743275 rs1036490185 |
830 | I>M | No |
ClinGen TOPMed |
|
|
CA6792369 rs773055296 |
831 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750003016 CA243668947 |
832 | D>H | No |
ClinGen TOPMed |
|
|
rs750003016 CA243668942 |
832 | D>N | No |
ClinGen TOPMed |
|
|
CA6792370 rs749137320 |
833 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6792371 rs749137320 |
833 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA243668960 rs867434637 |
833 | P>S | No |
ClinGen Ensembl |
|
|
COSM430337 CA6792372 rs370710385 |
834 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs932721321 CA243668973 |
834 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6792373 rs759081328 |
835 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA243668990 rs267603310 |
837 | L>P | No |
ClinGen TOPMed |
|
|
rs148107230 CA6792375 |
838 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243668997 rs867761955 |
838 | C>R | No |
ClinGen Ensembl |
|
|
rs148107230 CA386743315 |
838 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1379975256 CA386743334 |
841 | M>V | No |
ClinGen gnomAD |
|
|
CA386743342 rs762394036 CA6792376 |
842 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6792377 rs763692004 |
844 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6792378 rs750761589 |
845 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1204332499 CA386743372 |
846 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 846 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6792379 rs367661194 |
847 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386743380 rs1188382272 |
848 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386743385 rs1481929731 |
848 | A>V | No |
ClinGen gnomAD |
|
|
rs754954455 CA6792382 |
852 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6792381 rs141914437 |
852 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185651339 CA386743412 |
853 | Q>* | No |
ClinGen gnomAD |
|
|
rs781319960 CA6792383 |
853 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168107819 CA386743431 |
856 | V>M | No |
ClinGen gnomAD |
|
|
CA243669074 rs912523482 |
858 | L>F | No |
ClinGen Ensembl |
|
|
rs374524601 CA6792386 |
859 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792385 rs752786077 |
859 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386743455 rs1403185409 |
860 | P>A | No |
ClinGen gnomAD |
|
|
rs957750690 CA243669113 |
860 | P>L | No |
ClinGen TOPMed |
|
|
CA243669092 rs957750690 |
860 | P>R | No |
ClinGen TOPMed |
|
|
CA386743462 rs1360893731 |
861 | M>I | No |
ClinGen gnomAD |
|
|
rs368365149 CA6792389 |
861 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749046165 CA6792388 |
861 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6792392 rs771966708 |
865 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA386743493 rs1199753721 |
866 | I>T | No |
ClinGen gnomAD |
|
|
rs1036228967 CA243669154 |
868 | I>V | No |
ClinGen Ensembl |
|
|
CA6792396 rs776294614 |
870 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768303210 CA6792395 |
870 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1177143854 CA386743523 |
871 | P>L | No |
ClinGen gnomAD |
|
|
CA6792397 rs763234817 |
871 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6792398 rs766744060 |
872 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA243669218 rs150643910 |
873 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6792399 rs150643910 |
873 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386743532 rs150643910 |
873 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386743555 rs1470656727 |
877 | L>Q | No |
ClinGen gnomAD |
|
|
CA386743558 rs1334286340 |
878 | E>K | No |
ClinGen gnomAD |
|
|
rs760084141 CA6792402 |
879 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6792403 rs34245489 VAR_031814 |
880 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143237254 CA6792405 |
882 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200389621 CA386743601 |
883 | G>S | No |
ClinGen gnomAD |
|
|
rs758153726 CA6792450 |
884 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs147418170 CA6792449 |
884 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325650075 CA386743614 |
885 | G>R | No |
ClinGen TOPMed |
|
|
rs890059950 CA243669969 |
885 | G>V | No |
ClinGen gnomAD |
|
|
CA386743618 rs1261012152 |
886 | E>K | No |
ClinGen TOPMed |
|
|
CA6792451 rs766073871 |
888 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766073871 CA386743632 |
888 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200819090 CA243670002 |
888 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200819090 CA6792452 |
888 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754879359 CA6792453 |
889 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6792454 rs781157656 |
890 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6792456 rs755654625 |
892 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386743663 rs1469335376 |
893 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1019712616 CA243670055 |
893 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1019712616 CA386743664 |
893 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386743666 rs1172800779 |
894 | V>M | No |
ClinGen gnomAD |
|
|
rs1404470092 CA386743673 |
895 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs530287766 CA386743684 |
896 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748910662 CA6792458 |
897 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138044386 CA6792459 |
898 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747423412 CA6792462 CA6792461 |
899 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466416081 CA386743703 |
899 | M>T | No |
ClinGen TOPMed |
|
|
rs775717968 CA6792460 |
899 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6792463 rs777306165 |
901 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1257190282 CA386743716 |
902 | G>S | No |
ClinGen gnomAD |
|
|
CA386743725 rs1483296998 |
903 | P>L | No |
ClinGen gnomAD |
|
|
CA243670172 rs989345422 |
904 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765418830 CA6792465 |
905 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773398824 CA6792466 |
905 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6792467 rs763081398 |
906 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1027524848 CA386743798 |
910 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA243670202 rs1027524848 |
910 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751290561 CA6792469 |
910 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243670206 rs376700690 |
911 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792470 rs376700690 |
911 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386743809 rs1566169081 |
911 | Q>R | No |
ClinGen Ensembl |
|
|
CA386743832 rs1368363555 |
913 | R>K | No |
ClinGen gnomAD |
|
|
CA6792471 rs369568516 |
914 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243670248 rs969931327 |
915 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386743858 rs969931327 |
915 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6792472 rs752637658 |
916 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA386743860 rs752637658 |
916 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6792474 rs777137964 |
917 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777137964 CA6792475 |
917 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756833353 CA6792476 |
918 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs778645718 CA386743912 |
920 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs778645718 CA6792477 |
920 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA386743908 rs1225816705 |
920 | H>Y | No |
ClinGen gnomAD |
|
|
rs747335262 CA6792478 |
923 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1303321431 CA386743954 |
923 | M>T | No |
ClinGen gnomAD |
|
|
CA6792479 rs769144512 |
925 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386743996 rs781740591 |
926 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563131402 CA6792481 |
927 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144180377 CA6792483 |
930 | E>* | No |
ClinGen ESP ExAC TOPMed |
|
|
CA386744036 rs1296863427 |
930 | E>A | No |
ClinGen TOPMed |
|
|
CA386744037 rs1296863427 |
930 | E>G | No |
ClinGen TOPMed |
|
|
CA243670334 rs530655143 |
931 | R>K | No |
ClinGen 1000Genomes |
|
|
rs773134346 CA6792484 |
932 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386744082 rs1490290263 |
934 | A>T | No |
ClinGen gnomAD |
|
|
CA6792486 rs149500655 |
936 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199993809 CA386744106 |
936 | M>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA243670347 rs199993809 |
936 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs145484987 CA6792485 |
936 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774588291 CA6792488 |
939 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs774588291 CA6792487 |
939 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6792490 COSM1358787 rs75655687 |
939 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6792489 rs75655687 |
939 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243675055 rs755744652 |
940 | V>A | No |
ClinGen Ensembl |
|
|
CA6792552 rs143391323 |
941 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792553 rs762511384 |
942 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770585998 CA6792554 |
943 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759193773 CA6792556 |
943 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770585998 CA6792555 |
943 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792558 rs754213185 |
946 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762174881 CA6792559 |
947 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA243675090 rs1046732328 |
947 | G>R | No |
ClinGen Ensembl |
|
|
CA6792560 rs765698038 |
949 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1184975581 CA386745135 |
951 | V>L | No |
ClinGen gnomAD |
|
|
rs1166273630 CA386745142 |
952 | E>G | No |
ClinGen gnomAD |
|
|
rs752968132 CA243675137 |
952 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1464105400 CA386745161 |
955 | T>A | No |
ClinGen gnomAD |
|
|
CA386745163 rs1212960676 |
955 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751659068 CA6792564 |
956 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386745178 rs1395613713 |
957 | L>P | No |
ClinGen gnomAD |
|
|
rs375809754 CA6792566 |
958 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792565 rs375809754 |
958 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792569 rs777803076 |
959 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs769742789 CA6792568 |
959 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792570 rs749214496 |
960 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs369992766 CA6792572 |
961 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146750873 CA6792573 COSM308801 |
961 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1209905024 CA386745230 |
962 | Q>* | No |
ClinGen TOPMed |
|
|
CA6792575 rs775006150 |
963 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386745247 rs775006150 |
963 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792578 rs750829444 |
964 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6792579 rs763448291 |
964 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386745256 rs763448291 |
964 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386745262 CA6792582 rs751601129 |
965 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792581 rs751601129 |
965 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386745274 rs1566171433 |
966 | E>* | No |
ClinGen Ensembl |
|
|
rs374550154 CA6792584 |
968 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792585 rs202210590 |
969 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202210590 CA6792586 |
969 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200469515 CA6792587 |
969 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA386745323 rs1404669176 |
970 | A>S | No |
ClinGen gnomAD |
|
|
rs779419306 CA386745336 |
971 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792589 rs779419306 |
971 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs80294185 CA6792588 |
971 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1593059191 CA386745365 |
974 | V>G | No |
ClinGen Ensembl |
|
|
rs771508864 CA6792592 |
978 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775118172 CA6792593 |
978 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 979 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746635659 CA6792594 |
980 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6792595 rs768367514 CA386745477 |
981 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386745460 rs1215476554 |
981 | M>V | No |
ClinGen gnomAD |
|
|
rs773554910 CA6792596 |
982 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1428708631 CA386745486 |
982 | D>N | No |
ClinGen gnomAD |
|
|
rs1196464359 CA386745526 |
985 | G>R | No |
ClinGen gnomAD |
|
|
CA386745574 rs1263120152 |
987 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs143276470 CA6792597 |
987 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253278748 CA386746273 |
988 | A>P | No |
ClinGen gnomAD |
|
|
rs759927648 CA6792621 |
990 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6792622 rs768135706 |
991 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA243677140 rs906868515 |
992 | D>G | No |
ClinGen gnomAD |
|
|
rs775695911 CA6792623 |
993 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386746308 rs1167855811 |
994 | A>T | No |
ClinGen gnomAD |
|
|
CA386746319 rs1301961630 |
995 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764340287 CA6792626 |
998 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6792625 rs760848782 |
998 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA243677156 rs867008437 |
1000 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757552774 CA243677155 |
1000 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757552774 CA6792628 |
1000 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243677160 rs867008437 |
1000 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764914739 CA6792629 |
1001 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569704107 CA6792632 |
1003 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746451494 CA6792633 |
1005 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs115809570 CA6792635 |
1006 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747732996 CA386746385 |
1006 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386746384 rs747732996 |
1006 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747732996 CA6792636 |
1006 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6792638 rs779138253 |
1008 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746299861 CA6792639 COSM1238102 |
1010 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771262355 CA243677230 |
1010 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771262355 CA6792641 |
1010 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771262355 CA6792640 |
1010 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792643 rs570798113 |
1011 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386746413 rs1487477826 |
1012 | I>L | No |
ClinGen TOPMed |
|
|
rs776895160 CA6792644 |
1012 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs775527144 CA386746441 |
1014 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6792689 rs775527144 |
1014 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA386746439 rs1282326868 |
1014 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386746438 rs1282326868 |
1014 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386746442 rs775527144 |
1014 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233846738 CA386746445 |
1015 | F>V | No |
ClinGen gnomAD |
|
|
rs1256770978 CA386746456 |
1016 | G>E | No |
ClinGen TOPMed |
|
|
rs763633576 CA386746459 |
1017 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792690 rs147517775 |
1017 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763633576 CA6792691 |
1017 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367722328 CA6792692 |
1019 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6792693 rs756961518 |
1021 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792694 rs764998042 |
1022 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792696 rs559584313 |
1023 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6792699 rs756621176 |
1025 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6792698 rs748666716 |
1025 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA243678107 rs1050001263 |
1031 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386746561 rs1403354341 |
1033 | A>S | No |
ClinGen TOPMed |
|
|
rs138539307 CA6792702 |
1034 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774559500 CA6792703 |
1034 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357151108 CA386746570 |
1035 | A>T | No |
ClinGen gnomAD |
|
|
rs1415318062 CA386746573 |
1035 | A>V | No |
ClinGen gnomAD |
|
|
rs775196004 CA6792706 |
1037 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202009645 CA6792708 |
1037 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202009645 CA6792707 |
1037 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792709 rs776225853 |
1039 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792711 rs142030532 COSM416056 |
1040 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA386746596 rs142030532 |
1040 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386746604 rs1263167046 |
1041 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA243678178 rs897209002 |
1041 | G>S | No |
ClinGen gnomAD |
|
|
rs767894467 CA6792714 |
1044 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386746632 rs1593061367 |
1045 | V>G | No |
ClinGen Ensembl |
|
|
rs753069714 CA6792715 |
1045 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA386746637 rs1172077480 |
1046 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1380092816 CA386746633 |
1046 | H>Y | No |
ClinGen TOPMed |
|
|
rs75289932 CA6792717 |
1047 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792716 rs199604114 |
1047 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297470622 CA386746647 |
1048 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149884150 CA6792719 |
1049 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792718 rs753847748 |
1049 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746066481 CA6792721 |
1052 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6792723 rs779888758 |
1054 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA6792722 rs772220300 |
1054 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA243678257 rs1038993253 |
1055 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1350480764 CA386746703 |
1057 | H>Q | No |
ClinGen gnomAD |
|
|
CA6792724 rs564259991 |
1058 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768575444 CA6792725 |
1058 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs776745377 CA6792728 |
1059 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6792727 rs776745377 |
1059 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1485151540 CA386746715 |
1060 | I>E | No |
ClinGen gnomAD |
No associated diseases with Q6JQN1
6 regional properties for Q6JQN1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminoglycoside phosphotransferase | 290 - 502 | IPR002575 |
| domain | Acyl-CoA oxidase/dehydrogenase, middle domain | 791 - 892 | IPR006091 |
| domain | Acyl-CoA dehydrogenase/oxidase C-terminal | 904 - 1052 | IPR009075 |
| domain | Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal | 41 - 247 | IPR011945 |
| domain | Acyl-CoA dehydrogenase/oxidase, N-terminal | 664 - 787 | IPR013786 |
| domain | Acyl-CoA dehydrogenase family member 10/11, N-terminal | 286 - 536 | IPR041726 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyl-CoA dehydrogenase activity | Catalysis of the reaction: acyl-CoA + oxidized |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| fatty acid beta-oxidation using acyl-CoA dehydrogenase | A fatty acid beta-oxidation pathway in which the initial step of each oxidation cycle, which converts an acyl-CoA to a trans-2-enoyl-CoA, is catalyzed by acyl-CoA dehydrogenase; the electrons removed by oxidation pass through the respiratory chain to oxygen and leave H2O as the product. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and ends when only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8RWZ3 | IBR3 | Probable acyl-CoA dehydrogenase IBR3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCVRSCFQSP | RLQWVWRTAF | LKHTQRRHQG | SHRWTHLGGS | TYRAVIFDMG | GVLIPSPGRV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAEWEVQNRI | PSGTILKALM | EGGENGPWMR | FMRAEITAEG | FLREFGRLCS | EMLKTSVPVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SFFSLLTSER | VAKQFPVMTE | AITQIRAKGL | QTAVLSNNFY | LPNQKSFLPL | DRKQFDVIVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SCMEGICKPD | PRIYKLCLEQ | LGLQPSESIF | LDDLGTNLKE | AARLGIHTIK | VNDPETAVKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LEALLGFTLR | VGVPNTRPVK | KTMEIPKDSL | QKYLKDLLGI | QTTGPLELLQ | FDHGQSNPTY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YIRLANRDLV | LRKKPPGTLL | PSAHAIEREF | RIMKALANAG | VPVPNVLDLC | EDSSVIGTPF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YVMEYCPGLI | YKDPSLPGLE | PSHRRAIYTA | MNTVLCKIHS | VDLQAVGLED | YGKQGDYIPR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QVRTWVKQYR | ASETSTIPAM | ERLIEWLPLH | LPRQQRTTVV | HGDFRLDNLV | FHPEEPEVLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VLDWELSTLG | DPLADVAYSC | LAHYLPSSFP | VLRGINDCDL | TQLGIPAAEE | YFRMYCLQMG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LPPTENWNFY | MAFSFFRVAA | ILQGVYKRSL | TGQASSTYAE | QTGKLTEFVS | NLAWDFAVKE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GFRVFKEMPF | TNPLTRSYHT | WARPQSQWCP | TGSRSYSSVP | EASPAHTSRG | GLVISPESLS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PPVRELYHRL | KHFMEQRVYP | AEPELQSHQA | SAARWSPSPL | IEDLKEKAKA | EGLWNLFLPL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EADPEKKYGA | GLTNVEYAHL | CELMGTSLYA | PEVCNCSAPD | TGNMELLVRY | GTEAQKARWL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IPLLEGKARS | CFAMTEPQVA | SSDATNIEAS | IREEDSFYVI | NGHKWWITGI | LDPRCQLCVF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MGKTDPHAPR | HRQQSVLLVP | MDTPGIKIIR | PLTVYGLEDA | PGGHGEVRFE | HVRVPKENMV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LGPGRGFEIA | QGRLGPGRIH | HCMRLIGFSE | RALALMKARV | KSRLAFGKPL | VEQGTVLADI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| AQSRVEIEQA | RLLVLRAAHL | MDLAGNKAAA | LDIAMIKMVA | PSMASRVIDR | AIQAFGAAGL |
| 1030 | 1040 | 1050 | |||
| SSDYPLAQFF | TWARALRFAD | GPDEVHRATV | AKLELKHRI |