Q96ST3
PR
Gene name |
SIN3A |
Protein name |
Paired amphipathic helix protein Sin3a |
Names |
Histone deacetylase complex subunit Sin3a, Transcriptional corepressor Sin3a |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25942 |
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 Q96ST3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96ST3-F1 | Predicted | AlphaFoldDB |
692 variants for Q96ST3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2073858956 RCV001265958 |
116 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332924 rs1180165033 |
259 | H>P | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255618 RCV000239471 |
269 | L>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567368243 RCV000754491 |
283 | H>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1347764887 RCV001196526 |
289 | S>* | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1010772312 CA272893448 RCV001256119 |
387 | V>M | Autism [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001332921 rs2073599549 |
410 | K>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267479 rs2073399686 |
526 | E>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622315 CA393498487 rs1555444885 RCV001269798 |
553 | R>* | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2073395843 RCV001265932 |
578 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239566 rs879255620 |
587 | S>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332922 rs2073302769 |
669 | L>F | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989361 CA393495271 rs1595897117 |
669 | L>H | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2073271481 RCV001332923 |
754 | E>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622301 rs1555443682 |
827 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367989965 RCV001339106 CA7667408 RCV003136000 |
928 | R>Q | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555443600 RCV001764519 RCV000520353 |
937 | K>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2073161466 RCV001265820 |
977 | S>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239460 rs886037847 |
985 | E>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135401768 RCV000496119 |
1040 | Q>missing | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586184 RCV000239512 rs879255621 COSM964991 |
1104 | R>* | large_intestine SIN3A-related intellectual disability syndrome due to a point mutation Variant assessed as Somatic; impact. endometrium [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_081785 | 1104 | R>del | WITKOS [UniProt] | Yes | UniProt |
|
RCV002489355 VAR_062129 CA7667222 RCV000960871 rs60213317 |
1156 | M>L | SIN3A-related intellectual disability syndrome due to a point mutation [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA272896990 rs12914257 |
2 | K>N | No |
ClinGen Ensembl |
|
|
CA272896989 rs907380531 |
3 | R>Q | No |
ClinGen TOPMed |
|
|
CA393462381 rs1284838849 |
3 | R>W | No |
ClinGen TOPMed |
|
|
rs373473132 CA7667991 |
4 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7667990 rs749564136 |
4 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393462260 rs1368580455 |
7 | D>V | No |
ClinGen gnomAD |
|
|
CA393462225 rs1303102733 |
8 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393462231 rs1303102733 |
8 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1303102733 CA393462227 |
8 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7667988 rs770253494 |
10 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420912806 CA393462089 |
11 | P>L | No |
ClinGen gnomAD |
|
|
rs757265494 CA7667985 |
13 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1595920111 CA393462011 |
14 | A>S | No |
ClinGen Ensembl |
|
|
rs376996093 CA7667983 |
15 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752405863 CA272896987 |
17 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765335635 CA7667980 |
18 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754957092 CA7667979 |
18 | R>H | No |
ClinGen ExAC gnomAD |
|
|
COSM3401928 CA393461852 COSM3401927 rs1210128185 |
19 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs979275524 CA272896986 |
19 | R>W | No |
ClinGen gnomAD |
|
|
rs1567402074 CA393461783 |
22 | G>S | No |
ClinGen Ensembl |
|
|
rs373353493 CA272896985 |
23 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA7667977 rs765992678 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA272896984 rs968317598 |
27 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393461535 rs1595920071 |
29 | H>P | No |
ClinGen Ensembl |
|
|
CA272896983 rs894918712 |
29 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1640348 rs772942517 CA7667975 |
32 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7667976 rs760064616 |
32 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs767054284 CA7667974 |
33 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667973 rs763414669 |
40 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1020770197 CA272896981 |
41 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA272896980 rs141435592 |
44 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA272896978 rs1034657421 |
48 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393461168 rs1371690025 |
49 | Q>P | No |
ClinGen gnomAD |
|
|
CA7667968 rs771027935 |
54 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747040558 CA7667967 |
58 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1567401769 CA393460874 |
63 | Q>* | No |
ClinGen Ensembl |
|
|
rs1567401751 CA393460864 |
63 | Q>L | No |
ClinGen Ensembl |
|
|
CA7667948 rs773156606 |
66 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs748324115 CA7667946 CA393458957 |
67 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7667947 rs772136970 |
67 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7667945 rs202026848 RCV000894902 |
68 | P>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs549597181 CA7667943 |
72 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391590416 CA393458819 |
78 | I>V | No |
ClinGen gnomAD |
|
|
CA7667940 rs750007419 |
79 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393458772 rs1567388138 |
82 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 82 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393458768 rs1469583782 |
82 | H>R | No |
ClinGen gnomAD |
|
|
rs1308885211 CA393458734 |
84 | S>R | No |
ClinGen TOPMed |
|
|
rs138863415 CA7667939 |
86 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751240570 CA7667937 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7667936 rs763684984 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667935 rs200501190 |
90 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272895600 rs915243182 |
90 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393458609 rs1203981409 |
94 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203981409 CA393458610 |
94 | H>R | No |
ClinGen gnomAD |
|
|
rs761104318 CA7667932 |
96 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370780906 CA393458552 |
102 | H>Q | No |
ClinGen gnomAD |
|
|
rs1457534295 CA393458555 |
102 | H>R | No |
ClinGen TOPMed |
|
|
CA393458550 rs1175637599 |
103 | A>T | No |
ClinGen TOPMed |
|
|
CA393458542 rs1567387923 |
104 | H>L | No |
ClinGen Ensembl |
|
|
CA7667931 rs372189103 |
105 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1438912955 CA393458529 |
106 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 107 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772076968 CA7667930 |
109 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7667929 rs761936812 |
110 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1270187875 CA393453214 |
135 | L>V | No |
ClinGen TOPMed |
|
|
CA393453131 rs1215859369 |
138 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232887806 CA393452745 |
152 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320053792 CA393452591 |
157 | Q>* | No |
ClinGen gnomAD |
|
|
rs1468978628 CA393452004 |
166 | S>N | No |
ClinGen gnomAD |
|
|
rs1294780529 CA393451979 |
167 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7667871 COSM965018 rs752788557 |
167 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 172 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753942159 CA7667868 |
173 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA393451717 rs766193825 |
176 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667867 rs766193825 |
176 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7667864 rs771970141 |
180 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867649116 CA272893942 |
183 | N>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs925822860 CA272893941 |
202 | V>M | No |
ClinGen Ensembl |
|
|
CA7667858 rs564310032 |
204 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272893940 rs564310032 |
204 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386971419 CA393450873 |
206 | G>S | No |
ClinGen gnomAD |
|
|
CA393450803 rs1402417662 |
208 | V>F | No |
ClinGen gnomAD |
|
|
CA7667853 rs779056335 |
212 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272893939 rs139541749 COSM109752 |
212 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs199570073 CA7667852 |
213 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1379717809 CA393450663 |
214 | H>R | No |
ClinGen gnomAD |
|
|
rs766570442 CA7667850 |
215 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7667851 rs754112981 |
215 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs199949593 CA7667848 |
216 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1489233379 CA393450567 |
217 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393450548 rs1199794729 |
218 | P>S | No |
ClinGen gnomAD |
|
|
rs539016352 CA272893937 |
220 | P>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 221 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316871644 CA393450218 |
228 | S>A | No |
ClinGen gnomAD |
|
|
rs1316871644 CA393450223 |
228 | S>P | No |
ClinGen gnomAD |
|
|
CA393450184 rs1275768142 |
229 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1250066907 CA393450171 |
230 | P>S | No |
ClinGen TOPMed |
|
|
rs149788185 CA7667841 |
233 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219861008 CA393450097 |
233 | Q>P | No |
ClinGen gnomAD |
|
|
rs1334148163 CA393450052 |
235 | A>T | No |
ClinGen gnomAD |
|
|
rs1394775881 CA393450046 |
235 | A>V | No |
ClinGen gnomAD |
|
|
rs1377536014 CA393449962 |
238 | P>A | No |
ClinGen TOPMed |
|
|
CA393449936 rs1464138714 |
239 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA393449833 rs1303749612 |
242 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393449755 rs1567370726 |
244 | Q>H | No |
ClinGen Ensembl |
|
|
rs1465322168 CA393449741 |
245 | P>L | No |
ClinGen gnomAD |
|
|
CA272893935 rs959742480 |
246 | P>L | No |
ClinGen Ensembl |
|
|
CA393449629 rs1428720398 |
249 | K>T | No |
ClinGen TOPMed |
|
|
rs926913518 CA272893934 |
250 | V>D | No |
ClinGen Ensembl |
|
|
rs1478223666 CA393449620 |
250 | V>L | No |
ClinGen gnomAD |
|
|
CA7667836 rs772259269 |
251 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371179663 CA393449566 |
252 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1595907762 RCV001009214 |
255 | Q>missing | No |
ClinVar dbSNP |
|
|
CA393448372 rs1236109890 |
258 | A>S | No |
ClinGen gnomAD |
|
|
CA272893819 rs959464915 |
259 | H>D | No |
ClinGen TOPMed |
|
|
rs1180165033 CA393448343 |
259 | H>R | No |
ClinGen gnomAD |
|
|
rs1457901068 CA393448330 |
260 | T>P | No |
ClinGen gnomAD |
|
|
rs759268451 CA7667818 |
260 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7667817 rs776384403 |
261 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322810352 CA393448259 |
263 | S>G | No |
ClinGen TOPMed |
|
|
CA393448223 rs1240030312 |
265 | Q>E | No |
ClinGen gnomAD |
|
|
CA7667814 rs774966826 |
266 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393448205 rs774966826 |
266 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA272893812 rs928957518 |
268 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 268 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371634411 CA7667813 |
268 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA272893810 rs371634411 |
268 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393448175 rs928957518 |
268 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7667812 rs749431910 |
270 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272893804 rs968419127 |
271 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393448130 rs968419127 |
271 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1330688068 CA393448133 |
271 | P>S | No |
ClinGen gnomAD |
|
|
rs780124259 CA7667811 |
273 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA393448109 rs1164184277 |
273 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746118081 CA7667809 |
274 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7667808 rs146547140 |
275 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757121084 CA7667807 |
276 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751280333 CA7667806 |
278 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752617475 CA7667804 |
279 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667802 rs61761938 RCV000890581 |
279 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7667803 rs752617475 |
279 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393447989 rs1166259702 |
282 | P>R | No |
ClinGen TOPMed |
|
|
rs762309462 CA7667798 |
283 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA272893779 rs914815994 |
284 | T>I | No |
ClinGen TOPMed |
|
|
rs769010528 CA7667796 |
286 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000898756 rs116550351 CA7667794 |
288 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA393447883 rs1347764887 |
289 | S>L | No |
ClinGen gnomAD |
|
|
rs995271451 CA272893763 |
292 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs781516299 CA7667791 |
293 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7667789 rs746878015 |
295 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373770490 CA7667788 |
297 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1327629585 CA393447775 |
298 | N>K | No |
ClinGen gnomAD |
|
|
CA7667787 rs758228524 |
299 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393447716 rs1309682681 |
301 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667785 rs778972815 |
316 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA393447289 rs1381240264 |
316 | N>S | No |
ClinGen gnomAD |
|
|
CA272893758 rs77934575 |
318 | F>S | No |
ClinGen gnomAD |
|
|
CA393447247 rs77934575 |
318 | F>Y | No |
ClinGen gnomAD |
|
|
rs754575935 CA7667784 |
320 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA272893756 rs143956829 |
323 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA7667782 rs766117367 |
324 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753286676 CA7667783 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM965015 rs760260844 CA7667781 |
325 | Y>C | pancreas Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA393446692 rs1401887911 |
338 | E>G | No |
ClinGen gnomAD |
|
|
CA393446656 rs1405306625 |
339 | Q>H | No |
ClinGen gnomAD |
|
|
CA7667756 rs187557532 |
341 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1177184752 CA393446634 |
341 | N>Y | No |
ClinGen TOPMed |
|
|
rs1354503043 CA393446594 |
343 | K>R | No |
ClinGen TOPMed |
|
|
CA272893473 rs993024026 |
347 | G>E | No |
ClinGen TOPMed |
|
|
CA7667754 rs773347365 |
348 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7667752 RCV000883235 rs748018153 |
350 | T>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7667751 rs774305604 |
352 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs369609701 CA272893466 |
352 | A>T | No |
ClinGen gnomAD |
|
|
CA7667749 rs749217615 |
360 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667748 rs200545732 |
364 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7667747 rs755626784 |
364 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 368 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2073604192 RCV001269750 |
375 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 376 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 379 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2073603561 RCV001268219 |
388 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 388 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667713 rs761938898 |
388 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA393444380 rs761938898 |
388 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7667712 rs774759370 |
393 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA393444099 rs1261051259 |
396 | K>Q | No |
ClinGen gnomAD |
|
|
rs927455400 CA272893409 |
399 | S>C | No |
ClinGen TOPMed |
|
|
CA393443986 rs1475143367 |
399 | S>T | No |
ClinGen TOPMed |
|
|
CA272893408 rs915194564 |
400 | V>M | No |
ClinGen gnomAD |
|
|
CA7667711 rs764342401 |
404 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA272893406 rs989362360 |
406 | G>V | No |
ClinGen Ensembl |
|
|
CA393443706 rs1397387998 |
408 | V>A | No |
ClinGen gnomAD |
|
|
rs559808137 CA7667708 |
412 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393443442 rs1386176771 |
416 | K>R | No |
ClinGen gnomAD |
|
|
rs776511019 CA7667706 |
417 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376704049 CA7667704 |
417 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376704049 CA7667705 |
417 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776511019 CA272893401 |
417 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567364250 CA393443384 |
418 | Q>* | No |
ClinGen Ensembl |
|
|
CA393443189 rs1595906400 |
423 | N>K | No |
ClinGen Ensembl |
|
|
CA393443165 rs1229143000 |
424 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1177415708 CA393443122 |
425 | C>S | No |
ClinGen gnomAD |
|
|
rs1477570186 CA393443110 |
425 | C>W | No |
ClinGen gnomAD |
|
|
rs1283802481 CA393443092 |
426 | Q>R | No |
ClinGen TOPMed |
|
|
rs1023368225 CA272893397 |
428 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771744359 CA7667702 |
428 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs747700571 CA7667701 |
430 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030849851 CA272893393 |
431 | P>R | No |
ClinGen TOPMed |
|
|
CA272893394 rs543871480 |
431 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7667700 rs543871480 |
431 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7667699 rs756398614 |
432 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750993322 CA7667698 |
433 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7667697 rs781758182 |
436 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs544511757 CA7667670 |
441 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7667669 rs753619631 |
442 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393439795 rs1163923840 |
443 | K>I | No |
ClinGen gnomAD |
|
|
rs1163923840 CA393439796 |
443 | K>R | No |
ClinGen gnomAD |
|
|
CA393439765 rs1437958126 |
446 | N>H | No |
ClinGen gnomAD |
|
|
CA7667667 rs760614605 |
447 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595904471 CA393439735 RCV000883995 |
448 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs767080621 CA393439685 |
452 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272892988 rs1040140508 |
452 | M>T | No |
ClinGen TOPMed |
|
|
rs767080621 CA7667665 |
452 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393439674 rs1292965645 |
453 | A>T | No |
ClinGen gnomAD |
|
|
CA7667664 rs150154272 |
454 | D>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 454 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774088990 CA7667663 |
455 | A>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001008313 rs1595904430 |
456 | S>missing | No |
ClinVar dbSNP |
|
|
rs768415150 CA7667662 |
458 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1239989622 CA393439575 |
460 | G>D | No |
ClinGen gnomAD |
|
|
rs574020537 CA7667659 |
464 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574020537 CA393439523 |
464 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747581092 CA7667657 |
466 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971198723 CA272916530 |
471 | R>G | No |
ClinGen TOPMed |
|
|
rs1173797523 COSM1265617 CA393499318 |
471 | R>Q | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs747312732 CA7667640 |
474 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328986575 CA393499278 |
475 | R>Q | No |
ClinGen TOPMed |
|
|
rs773808088 CA7667639 |
475 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216872752 CA393499256 |
477 | A>T | No |
ClinGen gnomAD |
|
|
CA7667635 rs755013356 |
480 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1324417057 RCV001092617 COSM284996 CA393499212 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA393499163 rs1359695896 |
487 | L>V | No |
ClinGen gnomAD |
|
|
rs1267007077 CA393499155 |
488 | V>A | No |
ClinGen TOPMed |
|
|
CA393499152 rs1271851400 |
489 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393499129 rs1431278867 |
492 | Q>E | No |
ClinGen gnomAD |
|
|
rs1339629225 CA393499114 |
494 | V>M | No |
ClinGen gnomAD |
|
|
rs755980650 CA7667632 |
497 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA272916451 rs1001150898 |
497 | R>H | No |
ClinGen Ensembl |
|
|
rs1431668094 CA393499076 |
500 | L>V | No |
ClinGen TOPMed |
|
|
rs1169267201 CA393499048 |
504 | V>A | No |
ClinGen gnomAD |
|
|
rs1187605051 CA393499028 |
507 | F>L | No |
ClinGen gnomAD |
|
|
rs141285094 CA7667630 |
507 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393499022 rs1472705313 |
509 | G>R | No |
ClinGen gnomAD |
|
|
rs904164549 CA272915511 |
515 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7667618 rs774792797 |
518 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1421115108 CA393498933 |
519 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667616 rs749338687 |
524 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749338687 CA393498888 |
524 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 529 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595900220 CA393498807 |
530 | L>R | No |
ClinGen Ensembl |
|
|
rs1298203461 CA393498812 |
530 | L>V | No |
ClinGen gnomAD |
|
|
CA272915459 rs1001620151 |
533 | Y>F | No |
ClinGen TOPMed |
|
|
rs1305474822 CA393498758 |
534 | P>L | No |
ClinGen gnomAD |
|
|
rs746041476 CA7667613 |
536 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001268218 rs757034687 |
537 | R>* | No |
ClinVar dbSNP |
|
|
CA7667611 rs757034687 |
537 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751562930 CA7667610 |
537 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1464700220 CA393498694 |
539 | T>A | No |
ClinGen TOPMed |
|
|
CA393498696 rs1464700220 |
539 | T>P | No |
ClinGen TOPMed |
|
|
CA393498677 rs1190617452 |
540 | E>D | No |
ClinGen gnomAD |
|
|
rs1328702874 CA393498602 |
545 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 547 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758021835 CA7667608 |
549 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555444879 CA393498404 RCV000579005 |
559 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753491359 CA7667604 |
566 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1343069234 CA393498154 |
573 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM3401926 rs1196648474 CA393498149 |
573 | R>Q | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA393498152 rs1343069234 |
573 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1450671789 CA393498106 |
575 | P>L | No |
ClinGen gnomAD |
|
|
rs1285796345 CA393498118 |
575 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 590 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 591 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272914735 rs765613606 |
599 | S>T | No |
ClinGen Ensembl |
|
|
CA7667590 rs369940927 |
600 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 601 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985300880 CA272914700 |
601 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 602 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111371012 CA272914688 |
605 | Y>H | No |
ClinGen TOPMed |
|
|
rs1466493577 CA393497203 |
609 | I>T | No |
ClinGen gnomAD |
|
|
CA7667585 rs753484991 |
609 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393497043 rs1237781040 COSM965008 |
616 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 622 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201414754 RCV000523847 CA7667559 |
630 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1362026779 CA393495523 |
631 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs374207997 CA7667557 |
632 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs374207997 CA272911147 |
632 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
RCV000519646 rs1555444323 |
635 | A>missing | No |
ClinVar dbSNP |
|
|
CA393495493 rs1334079481 |
636 | I>T | No |
ClinGen gnomAD |
|
|
rs1387557373 CA393495495 COSM1744367 |
636 | I>V | biliary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs761010647 CA7667554 |
637 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA393495483 rs1567341422 RCV000760844 |
638 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 639 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16620010 rs1064796962 RCV000487103 |
642 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1367175436 CA393495452 |
642 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 647 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749126622 CA7667548 |
650 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7667547 rs779616465 |
651 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393495384 rs1472631142 |
652 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1472631142 CA393495382 |
652 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745540120 CA7667545 |
655 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780797915 CA7667544 |
656 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292897653 CA393495335 |
660 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 660 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292897653 CA393495334 |
660 | T>S | No |
ClinGen gnomAD |
|
|
rs1348726397 COSM1678593 CA393495325 |
661 | S>L | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1447367333 CA393495320 |
662 | E>G | No |
ClinGen gnomAD |
|
|
rs1239927585 CA393495299 |
665 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 666 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749334902 CA272910988 |
667 | K>N | No |
ClinGen Ensembl |
|
|
CA7667541 rs779346473 |
667 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368303944 CA7667539 |
672 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000809826 CA393495242 rs1595897112 |
673 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA393495211 rs1323905815 |
678 | A>T | No |
ClinGen gnomAD |
|
|
CA272910964 rs952092683 |
680 | I>V | No |
ClinGen TOPMed |
|
|
rs1399759289 CA393495191 |
681 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1159928965 CA393495180 |
682 | D>E | No |
ClinGen gnomAD |
|
|
CA7667536 rs750716364 |
690 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7667534 rs761574516 |
694 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667533 rs774213579 |
695 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7667532 rs768264957 |
697 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs199740656 CA272909820 |
701 | M>T | No |
ClinGen 1000Genomes |
|
|
CA7667503 rs756699875 |
707 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746307141 CA7667502 |
708 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757238427 CA7667500 |
717 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444395453 CA393494606 |
718 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA272909784 rs151089140 |
719 | E>Q | No |
ClinGen ESP |
|
|
rs764193971 CA7667498 |
723 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567338837 CA393494333 |
733 | G>W | No |
ClinGen Ensembl |
|
|
CA7667497 rs758282618 |
734 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA272909740 rs564818133 |
735 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7667496 rs117122434 |
743 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764954862 CA7667495 |
750 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs532044975 CA7667494 |
751 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393494024 rs1302140128 |
752 | E>D | No |
ClinGen TOPMed |
|
|
CA7667493 rs776502833 |
753 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393493949 rs1379289909 |
757 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 760 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 760 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382426151 CA393492502 |
763 | Q>H | No |
ClinGen TOPMed |
|
|
rs1480035054 CA393492479 |
765 | T>A | No |
ClinGen gnomAD |
|
|
CA393492468 rs1317499240 |
765 | T>M | No |
ClinGen gnomAD |
|
|
CA393492454 rs1192774233 |
766 | E>V | No |
ClinGen gnomAD |
|
|
CA393492443 rs1488677553 |
767 | E>K | No |
ClinGen gnomAD |
|
|
rs1213176093 CA393492400 |
770 | G>S | No |
ClinGen gnomAD |
|
|
rs145160587 CA7667464 |
772 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268155139 CA393492363 |
773 | V>F | No |
ClinGen gnomAD |
|
|
rs759951599 CA7667463 |
774 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA393492296 rs1387753876 |
777 | L>F | No |
ClinGen gnomAD |
|
|
CA393492251 rs369396162 |
780 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 780 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667460 rs369396162 |
780 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA272907832 rs762956770 |
782 | E>K | No |
ClinGen TOPMed |
|
|
rs1056597693 CA272907817 |
783 | D>G | No |
ClinGen TOPMed |
|
|
rs201853552 CA7667457 |
784 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 785 | Q>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393492147 rs1175718627 |
787 | L>M | No |
ClinGen gnomAD |
|
|
rs1468297310 CA393492130 |
788 | E>A | No |
ClinGen gnomAD |
|
|
rs938166874 CA272907809 |
789 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 794 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667456 rs779075582 |
794 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1448751349 CA393492008 |
795 | I>V | No |
ClinGen Ensembl |
|
|
rs1302778343 CA393491988 |
796 | H>Y | No |
ClinGen gnomAD |
|
|
rs1178116102 CA393491823 |
807 | E>Q | No |
ClinGen gnomAD |
|
|
CA393491815 rs1433603402 |
807 | E>V | No |
ClinGen gnomAD |
|
|
rs1439603741 CA393491800 |
808 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 811 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779837758 CA7667453 |
816 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453766637 CA393491643 |
817 | H>Y | No |
ClinGen TOPMed |
|
|
COSM434320 CA393491622 rs1202547391 |
818 | H>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1258327914 CA393491562 |
822 | D>H | No |
ClinGen gnomAD |
|
|
rs750330658 CA7667450 |
823 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs551685122 CA7667449 |
826 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393491495 rs551685122 |
826 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7667448 rs761389133 |
827 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA393491463 rs1422517841 |
828 | R>I | No |
ClinGen gnomAD |
|
|
rs1050019836 CA272907732 |
830 | D>E | No |
ClinGen Ensembl |
|
|
CA393491382 rs947366543 |
834 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA272907727 rs947366543 |
834 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7667447 rs371395364 |
840 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7667446 rs201206097 |
841 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393491245 rs1304549434 |
842 | M>T | No |
ClinGen gnomAD |
|
|
CA7667445 rs760039274 |
843 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs986589896 CA272907691 |
844 | V>I | No |
ClinGen TOPMed |
|
|
rs1166413240 CA393491189 |
845 | D>G | No |
ClinGen gnomAD |
|
|
CA7667444 rs776874565 |
845 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7667443 rs190764505 |
847 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7667442 rs761118636 |
848 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 848 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779811653 CA272907678 |
851 | V>I | No |
ClinGen Ensembl |
|
|
rs1595894845 CA393491096 |
852 | K>E | No |
ClinGen Ensembl |
|
|
rs773720041 CA7667441 |
855 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs201113909 CA7667440 |
855 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1257598656 CA393491008 |
856 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 857 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264131753 CA393490999 |
857 | V>I | No |
ClinGen TOPMed |
|
|
CA7667439 rs377177543 |
859 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA272907655 rs974157375 |
860 | S>N | No |
ClinGen TOPMed |
|
|
CA7667438 rs142699114 |
861 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7667435 rs779742094 |
862 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs148600763 CA7667436 |
862 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373141073 CA7667434 |
865 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756896564 CA7667431 |
871 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1333310272 CA393490840 |
872 | A>T | No |
ClinGen TOPMed |
|
|
rs1395755178 CA393490826 |
874 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7667430 rs149535136 |
874 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393490807 rs1300656596 |
876 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 876 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543468563 CA272907627 |
877 | R>G | No |
ClinGen 1000Genomes |
|
|
rs1567334824 CA393490764 |
882 | V>A | No |
ClinGen Ensembl |
|
|
rs776651284 CA272907604 |
884 | N>S | No |
ClinGen gnomAD |
|
|
rs1369700335 COSM964998 CA393490735 |
886 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7667427 rs752355034 |
887 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 889 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766675575 CA7667426 |
889 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393490704 rs1220560594 |
891 | N>T | No |
ClinGen gnomAD |
|
|
CA7667424 rs773658379 |
891 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393490694 TCGA novel RCV000578866 rs1555443627 |
892 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 895 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667423 rs767997621 |
895 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266261364 CA393490662 |
896 | M>I | No |
ClinGen gnomAD |
|
|
rs1064796919 COSM964996 RCV000483909 CA16620009 |
897 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
TCGA novel CA393490647 rs1595894721 |
899 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 900 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334022873 CA393490635 |
900 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 905 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667419 rs749490401 |
908 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393490590 COSM1374608 rs1350898288 |
908 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA393490549 rs1422409184 |
914 | E>G | No |
ClinGen TOPMed |
|
|
CA7667416 rs745676137 |
914 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393490552 rs745676137 |
914 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7667414 rs372555029 |
915 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781339751 CA7667415 |
915 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 918 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667412 rs202139984 |
918 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200048584 CA7667411 |
919 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1567334426 CA393490515 |
919 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 920 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764937879 CA7667409 |
922 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393490480 rs889866448 |
924 | R>S | No |
ClinGen gnomAD |
|
|
rs762336282 CA7667405 |
938 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA393490384 rs762336282 |
938 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1329846880 CA393490377 |
939 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 940 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667404 rs774788473 |
941 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763053849 CA393490354 |
943 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7667403 rs763053849 |
943 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs763053849 CA7667402 |
943 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA272907429 rs934550346 |
944 | Q>L | No |
ClinGen Ensembl |
|
|
CA272907428 rs906901443 |
946 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs775644579 CA7667401 |
946 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393490334 rs775644579 |
946 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000519880 rs1555443581 |
948 | K>missing | No |
ClinVar dbSNP |
|
|
CA393490323 RCV001064062 rs1323845790 |
948 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 949 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374434234 CA7667400 |
949 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374434234 CA393490315 |
949 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393490311 rs1446918869 |
950 | P>A | No |
ClinGen gnomAD |
|
|
CA393490310 rs1446918869 |
950 | P>S | No |
ClinGen gnomAD |
|
|
CA7667375 rs773340650 |
951 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA393489826 rs1392309652 |
953 | V>I | No |
ClinGen gnomAD |
|
|
CA7667374 rs772059431 |
954 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7667373 rs564107155 |
957 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7667370 rs748986171 |
965 | M>V | No |
ClinGen ExAC |
|
|
CA7667369 rs779646300 |
967 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7667367 rs141711068 |
974 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393489494 rs1299400927 |
975 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 975 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228616737 CA393489466 |
976 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA272905616 rs896907922 |
978 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777945632 CA7667366 |
980 | E>G | No |
ClinGen ExAC |
|
|
CA272905599 rs767869086 |
981 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 982 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs886037847 | 985 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393489322 rs1288748131 |
986 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 990 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360306206 CA393488682 |
992 | Y>D | No |
ClinGen gnomAD |
|
|
rs765382176 CA7667363 |
993 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 994 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393488604 rs1314054441 |
996 | T>I | No |
ClinGen TOPMed |
|
|
CA7667362 rs759666845 |
996 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758642097 CA7667344 |
1009 | Q>H | No |
ClinGen ExAC |
|
|
CA393488115 rs1471529486 |
1011 | I>V | No |
ClinGen gnomAD |
|
|
rs1182704518 CA393488102 |
1012 | V>M | No |
ClinGen gnomAD |
|
|
rs1244661733 CA393488075 |
1013 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779256877 CA7667343 |
1016 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1223258525 CA393488028 |
1016 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393488000 rs1406153249 |
1019 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1023 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112668604 CA272901893 |
1025 | L>P | No |
ClinGen Ensembl |
|
|
rs1012700186 CA272901897 |
1025 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1029 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393487821 rs1289512964 |
1031 | G>R | No |
ClinGen gnomAD |
|
|
CA272901870 rs756434325 |
1032 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667338 rs756434325 |
1032 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667335 rs761480300 |
1034 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1035 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221899544 CA393487745 |
1036 | Q>H | No |
ClinGen TOPMed |
|
|
rs774409419 CA7667334 |
1038 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764001979 CA7667333 |
1040 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393487620 rs1159773517 |
1044 | S>N | No |
ClinGen gnomAD |
|
|
CA393487606 rs1422741019 |
1045 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7667329 rs745557854 |
1048 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7667328 rs143418281 |
1049 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7667327 rs772526843 |
1049 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149212643 CA7667325 |
1052 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA272901830 rs111803180 |
1052 | R>W | No |
ClinGen Ensembl |
|
|
CA393487478 rs1178112879 |
1055 | E>G | No |
ClinGen TOPMed |
|
|
rs1310819402 CA393487471 |
1056 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393487454 rs1364804729 |
1058 | M>I | No |
ClinGen gnomAD |
|
|
rs756236282 CA7667321 |
1058 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7667320 rs750694645 |
1061 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs2072974210 RCV001092615 |
1067 | M>missing | No |
ClinVar dbSNP |
|
|
rs757427486 CA7667299 |
1067 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7667300 rs201464163 |
1067 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751767124 CA7667298 |
1072 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7667297 rs777570528 |
1074 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7667296 rs758170764 |
1074 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA393487325 rs1258923197 |
1075 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7667294 rs765157911 |
1076 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7667293 rs759145560 |
1077 | L>V | No |
ClinGen ExAC |
|
|
CA7667292 rs753290842 |
1079 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA272900676 rs866361889 |
1081 | L>F | No |
ClinGen Ensembl |
|
|
rs1280590413 CA393487271 |
1083 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1085 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344928665 CA393487245 |
1086 | E>Q | No |
ClinGen TOPMed |
|
|
rs929890594 CA272900670 |
1089 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA272900664 rs377593956 |
1090 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1242766764 CA393487152 |
1091 | D>E | No |
ClinGen gnomAD |
|
|
CA393487129 rs1323552683 |
1093 | V>A | No |
ClinGen gnomAD |
|
|
rs535980552 CA7667280 |
1097 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393486804 rs1227852200 |
1097 | R>P | No |
ClinGen gnomAD |
|
|
CA7667279 rs758256514 |
1099 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA393486782 rs1230045595 |
1100 | D>E | No |
ClinGen gnomAD |
|
|
rs1444952340 CA393486786 |
1100 | D>G | No |
ClinGen TOPMed |
|
|
COSM1742117 rs752478066 CA393486788 RCV000519398 |
1100 | D>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752478066 CA7667278 |
1100 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667276 rs754902352 |
1102 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1103 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771313894 CA7667275 |
1104 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272900400 rs947128013 |
1106 | M>L | No |
ClinGen Ensembl |
|
|
CA7667274 rs765855397 |
1107 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393486732 rs1383990794 |
1108 | S>A | No |
ClinGen Ensembl |
|
|
CA393486728 rs1456236755 |
1109 | D>N | No |
ClinGen gnomAD |
|
|
rs1567315354 CA393486719 |
1110 | T>A | No |
ClinGen Ensembl |
|
|
CA393486717 rs1567315340 |
1110 | T>N | No |
ClinGen Ensembl |
|
|
rs914298009 CA272900397 |
1112 | S>L | No |
ClinGen TOPMed |
|
|
CA272900389 rs935511195 |
1113 | P>L | No |
ClinGen gnomAD |
|
|
rs760200525 CA7667273 |
1116 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7667272 rs750164227 |
1116 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761497249 CA7667270 |
1118 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775998627 CA7667269 |
1119 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs759986615 CA7667267 |
1120 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7667265 rs770959285 |
1123 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs946672382 CA393486159 |
1131 | R>L | No |
ClinGen gnomAD |
|
|
CA272898919 rs946672382 |
1131 | R>Q | No |
ClinGen gnomAD |
|
|
rs774601051 CA7667242 |
1131 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM326463 CA7667241 rs556160377 |
1132 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA393486155 rs1332749033 |
1132 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7667240 rs749092824 |
1133 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555441161 RCV000498506 |
1134 | R>missing | No |
ClinVar dbSNP |
|
|
CA393486124 rs1428000882 |
1134 | R>Q | No |
ClinGen gnomAD |
|
|
CA7667238 rs756123555 |
1134 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA393486099 rs1319518627 |
1136 | C>R | No |
ClinGen gnomAD |
|
|
rs2072844502 RCV001092614 |
1137 | Q>* | No |
ClinVar dbSNP |
|
|
CA393486074 rs141700684 |
1137 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763801195 CA393486072 |
1138 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763801195 CA7667233 |
1138 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs147800016 CA393486066 |
1138 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7667232 rs147800016 |
1138 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754243706 CA7667231 COSM1374606 |
1140 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371714083 CA7667230 |
1142 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393485992 rs1595885695 |
1144 | E>G | No |
ClinGen Ensembl |
|
|
rs939053954 CA272898903 |
1145 | K>R | No |
ClinGen gnomAD |
|
|
rs769304744 CA272898897 |
1151 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761876235 CA7667226 |
1151 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667225 rs537899729 |
1152 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144295678 CA7667224 |
1153 | K>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs144295678 CA7667223 |
1153 | K>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 1154 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393485801 rs60213317 |
1156 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393485668 rs1404860940 |
1163 | D>G | No |
ClinGen gnomAD |
|
|
CA393485662 rs1411668926 |
1164 | K>E | No |
ClinGen gnomAD |
|
|
CA393485655 rs1448088687 |
1164 | K>R | No |
ClinGen TOPMed |
|
|
rs1555441136 CA393485629 RCV000520138 |
1166 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1595885641 CA393485618 |
1167 | C>G | No |
ClinGen Ensembl |
|
|
rs1297154754 CA393485597 |
1168 | R>I | No |
ClinGen TOPMed |
|
|
rs150503184 CA7667219 |
1173 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7667218 rs770636953 |
1175 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1178 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1180 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969076616 CA272898885 |
1187 | Y>F | No |
ClinGen Ensembl |
|
|
CA7667217 rs746516200 |
1189 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs985341985 CA272898879 |
1191 | A>T | No |
ClinGen Ensembl |
|
|
CA7667215 rs758076139 |
1194 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1401663709 CA393485216 |
1194 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7667214 rs752254316 |
1196 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA393485191 rs1287059901 |
1196 | H>Y | No |
ClinGen gnomAD |
|
|
CA7667189 rs777375616 |
1199 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM964989 rs747451113 CA272896310 |
1201 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7667188 rs771459621 |
1201 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA393483855 rs771459621 |
1201 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA272896307 rs949728462 |
1203 | S>G | No |
ClinGen Ensembl |
|
|
CA393483825 rs1218990584 |
1203 | S>N | No |
ClinGen gnomAD |
|
|
rs1365834797 CA393483772 |
1205 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1225750 CA7667187 rs747873220 |
1205 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393483769 rs747873220 |
1205 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393483681 rs142286030 |
1208 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA272896299 rs935934765 |
1211 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1555440521 RCV000599097 |
1213 | W>* | No |
ClinVar dbSNP |
|
|
rs756528068 CA7667185 |
1213 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs750796375 CA7667184 |
1214 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757810589 CA7667183 |
1215 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7667182 rs757810589 |
1215 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393483411 rs1159648804 |
1219 | K>E | No |
ClinGen gnomAD |
|
|
CA7667179 rs142724257 |
1224 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148486660 CA7667178 COSM556136 |
1224 | R>H | lung Variant assessed as Somatic; 0.000231 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393483238 rs1246805620 |
1225 | E>* | No |
ClinGen gnomAD |
|
|
CA272896288 rs1055990267 |
1226 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765546741 CA7667177 |
1227 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs759774443 CA7667176 |
1227 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393483155 rs1467390931 |
1228 | A>T | No |
ClinGen Ensembl |
|
|
rs776572465 CA7667175 |
1232 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310763011 CA393483007 |
1235 | M>L | No |
ClinGen gnomAD |
|
|
CA393482950 rs1398248335 |
1238 | G>A | No |
ClinGen TOPMed |
|
|
rs1235215187 CA393482959 |
1238 | G>R | No |
ClinGen gnomAD |
|
|
CA272896282 rs758976086 |
1242 | L>P | No |
ClinGen Ensembl |
|
|
CA272896280 rs926810598 |
1244 | P>R | No |
ClinGen Ensembl |
|
|
CA7667173 rs770810861 |
1245 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA393482832 rs1295570470 |
1246 | T>I | No |
ClinGen gnomAD |
|
|
rs1364039498 CA393482777 |
1250 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1255 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7667170 rs374431322 |
1263 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs908805435 CA272896271 |
1263 | R>H | No |
ClinGen gnomAD |
|
|
CA7667168 rs368269677 |
1265 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748896058 CA7667166 |
1267 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1341775144 CA393482640 |
1270 | F>L | No |
ClinGen TOPMed |
|
|
rs1429737649 CA393482632 |
1271 | K>N | No |
ClinGen gnomAD |
|
|
rs201660231 CA7667164 |
1272 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with Q96ST3
[MIM: 613406]: Witteveen-Kolk syndrome (WITKOS)
An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. {ECO:0000269|PubMed:27399968, ECO:0000269|PubMed:30267900}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. {ECO:0000269|PubMed:27399968, ECO:0000269|PubMed:30267900}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q96ST3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Paired amphipathic helix | 119 - 189 | IPR003822-1 |
| repeat | Paired amphipathic helix | 300 - 383 | IPR003822-2 |
| repeat | Paired amphipathic helix | 456 - 525 | IPR003822-3 |
| domain | Histone deacetylase interacting domain | 550 - 650 | IPR013194 |
| domain | Sin3, C-terminal | 886 - 1186 | IPR031693 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| histone deacetylase complex | A protein complex that possesses histone deacetylase activity. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| Sin3 complex | A multiprotein complex that functions broadly in eukaryotic organisms as a transcriptional repressor of protein-coding genes, through the gene-specific deacetylation of histones. Amongst its subunits, the Sin3 complex contains Sin3-like proteins, and a number of core proteins that are shared with the NuRD complex (including histone deacetylases and histone binding proteins). The Sin3 complex does not directly bind DNA itself, but is targeted to specific genes through protein-protein interactions with DNA-binding proteins. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| protein-containing complex binding | Binding to a macromolecular complex. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| transcription regulator inhibitor activity | A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. |
32 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of innate immune response | Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species. |
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| cellular response to dopamine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. |
| cellular response to glucose stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| cerebral cortex neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
| histone deacetylation | The modification of histones by removal of acetyl groups. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of circadian rhythm | Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of histone H3-K27 acetylation | Any process that stops, prevents or reduces the frequency, rate or extent of histone H3-K27 acetylation. |
| negative regulation of protein localization to nucleus | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. |
| negative regulation of stem cell population maintenance | Any process that stops, prevents or reduces the frequency, rate or extent of stem cell population maintenance. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transcription regulatory region DNA binding | Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| positive regulation of defense response to virus by host | Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication. |
| positive regulation of G2/M transition of mitotic cell cycle | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle. |
| positive regulation of heterochromatin assembly | Any process that activates or increases the frequency, rate or extent of heterochromatin formation. |
| positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
| positive regulation of stem cell population maintenance | Any process that activates or increases the frequency, rate or extent of stem cell population maintenance. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein deacetylation | The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| regulation of axon extension | Any process that modulates the rate, direction or extent of axon extension. |
| regulation of hormone levels | Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. |
| regulation of transcription from RNA polymerase II promoter in response to oxidative stress | Modulation of the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to methylglyoxal | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methylglyoxal stimulus. Methylglyoxal is a 2-oxoaldehyde derived from propanal. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O75182 | SIN3B | Paired amphipathic helix protein Sin3b | Homo sapiens (Human) | PR |
| Q62141 | Sin3b | Paired amphipathic helix protein Sin3b | Mus musculus (Mouse) | PR |
| Q60520 | Sin3a | Paired amphipathic helix protein Sin3a | Mus musculus (Mouse) | PR |
| Q9XIK6 | SNL6 | Paired amphipathic helix protein Sin3-like 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKRRLDDQES | PVYAAQQRRI | PGSTEAFPHQ | HRVLAPAPPV | YEAVSETMQS | ATGIQYSVTP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYQVSAMPQS | SGSHGPAIAA | VHSSHHHPTA | VQPHGGQVVQ | SHAHPAPPVA | PVQGQQQFQR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKVEDALSYL | DQVKLQFGSQ | PQVYNDFLDI | MKEFKSQSID | TPGVISRVSQ | LFKGHPDLIM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFNTFLPPGY | KIEVQTNDMV | NVTTPGQVHQ | IPTHGIQPQP | QPPPQHPSQP | SAQSAPAPAQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PAPQPPPAKV | SKPSQLQAHT | PASQQTPPLP | PYASPRSPPV | QPHTPVTISL | GTAPSLQNNQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVEFNHAINY | VNKIKNRFQG | QPDIYKAFLE | ILHTYQKEQR | NAKEAGGNYT | PALTEQEVYA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVARLFKNQE | DLLSEFGQFL | PDANSSVLLS | KTTAEKVDSV | RNDHGGTVKK | PQLNNKPQRP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SQNGCQIRRH | PTGTTPPVKK | KPKLLNLKDS | SMADASKHGG | GTESLFFDKV | RKALRSAEAY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ENFLRCLVIF | NQEVISRAEL | VQLVSPFLGK | FPELFNWFKN | FLGYKESVHL | ETYPKERATE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GIAMEIDYAS | CKRLGSSYRA | LPKSYQQPKC | TGRTPLCKEV | LNDTWVSFPS | WSEDSTFVSS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KKTQYEEHIY | RCEDERFELD | VVLETNLATI | RVLEAIQKKL | SRLSAEEQAK | FRLDNTLGGT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SEVIHRKALQ | RIYADKAADI | IDGLRKNPSI | AVPIVLKRLK | MKEEEWREAQ | RGFNKVWREQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NEKYYLKSLD | HQGINFKQND | TKVLRSKSLL | NEIESIYDER | QEQATEENAG | VPVGPHLSLA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YEDKQILEDA | AALIIHHVKR | QTGIQKEDKY | KIKQIMHHFI | PDLLFAQRGD | LSDVEEEEEE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EMDVDEATGA | VKKHNGVGGS | PPKSKLLFSN | TAAQKLRGMD | EVYNLFYVNN | NWYIFMRLHQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ILCLRLLRIC | SQAERQIEEE | NREREWEREV | LGIKRDKSDS | PAIQLRLKEP | MDVDVEDYYP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| AFLDMVRSLL | DGNIDSSQYE | DSLREMFTIH | AYIAFTMDKL | IQSIVRQLQH | IVSDEICVQV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TDLYLAENNN | GATGGQLNTQ | NSRSLLESTY | QRKAEQLMSD | ENCFKLMFIQ | SQGQVQLTIE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LLDTEEENSD | DPVEAERWSD | YVERYMNSDT | TSPELREHLA | QKPVFLPRNL | RRIRKCQRGR |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EQQEKEGKEG | NSKKTMENVD | SLDKLECRFK | LNSYKMVYVI | KSEDYMYRRT | ALLRAHQSHE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| RVSKRLHQRF | QAWVDKWTKE | HVPREMAAET | SKWLMGEGLE | GLVPCTTTCD | TETLHFVSIN |
| 1270 | |||||
| KYRVKYGTVF | KAP |