Q9ULK4
PR
Gene name |
MED23 (ARC130, CRSP3, DRIP130, KIAA1216, SUR2) |
Protein name |
Mediator of RNA polymerase II transcription subunit 23 |
Names |
Activator-recruited cofactor 130 kDa component, ARC130, Cofactor required for Sp1 transcriptional activation subunit 3, CRSP complex subunit 3, Mediator complex subunit 23, Protein sur-2 homolog, hSur-2, Transcriptional coactivator CRSP130, Vitamin D3 receptor-interacting protein complex 130 kDa component, DRIP130 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9439 |
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
9 structures for Q9ULK4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6H02 | X-ray | 280 A | A | 1-1368 | PDB |
| 7EMF | EM | 350 A | W | 1-1368 | PDB |
| 7ENA | EM | 407 A | w | 1-1368 | PDB |
| 7ENC | EM | 413 A | w | 1-1368 | PDB |
| 7ENJ | EM | 440 A | W | 1-1368 | PDB |
| 7LBM | EM | 480 A | 1 | 1-1368 | PDB |
| 8GXQ | EM | 504 A | w | 1-1368 | PDB |
| 8GXS | EM | 416 A | w | 1-1368 | PDB |
| AF-Q9ULK4-F1 | Predicted | AlphaFoldDB |
728 variants for Q9ULK4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000194425 CA208587 rs151031376 RCV001334890 |
79 | L>F | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374403178 RCV000660483 CA4000276 COSM1697992 COSM1697993 RCV002458174 |
123 | R>W | skin Intellectual disability, autosomal recessive 18 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000193448 rs143799081 RCV002336515 CA206950 |
151 | T>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA365645945 RCV000504438 rs1293450628 |
224 | R>G | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001281532 rs376144764 CA4000165 |
232 | N>S | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1776174152 RCV001257654 |
318 | E>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1775982467 RCV001330696 |
394 | P>L | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332522 rs1775691162 RCV002546573 |
570 | L>V | Intellectual disability, autosomal recessive 18 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485359 VAR_082644 rs370667926 RCV000023395 CA129202 |
611 | R>Q | Intellectual disability, autosomal recessive 18 MRT18; specifically impairs the response of JUN and FOS immediate early genes to serum mitogens by altering the interaction between enhancer-bound transcription factors TCF7L2 and ELK1 and the Mediator complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002316823 CA365670129 rs1562380913 |
717 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001334889 rs1775354988 |
726 | N>D | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000677705 rs760262127 |
790 | L>missing | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365668461 RCV000509436 rs1416942996 |
806 | I>T | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771485728 RCV001334892 |
945 | V>missing | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290680 RCV000760883 rs769471341 CA3999646 |
1118 | S>* | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA205593 rs758932839 RCV002517953 RCV000192639 |
1137 | V>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1774628358 RCV001251004 |
1182 | E>A | Fraser syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146599947 RCV001335780 |
1189 | R>L | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs527236035 CA170092 RCV000132726 |
1213 | H>R | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316821 rs944035388 CA147905187 |
1234 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3999537 rs144470678 RCV002312389 |
1248 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs150598354 RCV000192621 RCV002314834 CA205556 |
1287 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755207439 RCV000501927 CA3999484 RCV002376924 RCV002490837 |
1321 | L>F | Intellectual disability, autosomal recessive 18 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001335781 CA3999483 rs751590798 |
1327 | L>R | Intellectual disability, autosomal recessive 18 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001779096 COSM1697987 CA3999482 COSM1697986 rs766478634 RCV000987783 |
1328 | R>C | skin urinary_tract Intellectual disability, autosomal recessive 18 Neurodevelopmental disorder Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001550827 RCV000132727 COSM450481 COSM450480 rs527236036 CA170095 |
1330 | R>* | Variant assessed as Somatic; impact. Intellectual disability, autosomal recessive 18 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA4000439 rs373028919 |
3 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4000436 rs571359984 |
6 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760408030 CA4000434 |
8 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4000435 rs763908501 |
8 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1222455702 CA365650730 |
10 | E>* | No |
ClinGen gnomAD |
|
|
rs1263225324 CA365650684 |
13 | V>A | No |
ClinGen TOPMed |
|
|
rs767764329 CA4000432 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280467452 CA365650594 |
14 | K>R | No |
ClinGen gnomAD |
|
|
rs1259559830 CA365650582 |
15 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 15 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4000388 rs777195601 |
16 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4000387 rs769146326 |
17 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1219646988 CA365650546 |
18 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1466635141 CA365650551 |
18 | I>V | No |
ClinGen gnomAD |
|
|
CA4000386 rs745475202 |
21 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867369363 CA365650460 |
24 | G>D | No |
ClinGen TOPMed |
|
|
CA147900378 rs867369363 |
24 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4000362 rs748815738 |
25 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs111696973 CA147900131 |
26 | F>L | No |
ClinGen gnomAD |
|
|
rs769354114 CA4000361 |
29 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769354114 CA4000360 |
29 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376715175 CA4000359 |
30 | P>H | No |
ClinGen ESP ExAC |
|
|
CA365650287 rs146536905 |
32 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365650248 rs1245965090 |
35 | T>K | No |
ClinGen gnomAD |
|
|
CA365650246 rs1245965090 |
35 | T>R | No |
ClinGen gnomAD |
|
|
rs754748748 CA4000357 |
36 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751397767 CA4000356 |
38 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780319083 CA4000355 |
40 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4000354 rs750672509 |
40 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4000353 rs750672509 |
40 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4000352 rs372152291 RCV000597567 |
42 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4000351 rs556945974 |
42 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1218736984 CA365650148 |
43 | A>D | No |
ClinGen TOPMed |
|
|
CA4000349 rs764738397 |
43 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4000347 rs767935490 |
45 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1477868306 CA365650113 |
46 | Q>E | No |
ClinGen gnomAD |
|
|
CA365650078 rs142367193 |
49 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142367193 CA4000345 |
49 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1196639355 | 49 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365650071 rs1485568999 |
50 | G>C | No |
ClinGen TOPMed |
|
|
rs772951065 CA4000344 |
52 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4000343 rs769249158 |
53 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365649682 rs1484844562 |
55 | S>F | No |
ClinGen gnomAD |
|
|
CA365649679 rs1381645711 |
56 | H>Y | No |
ClinGen gnomAD |
|
|
rs1334245876 CA365649649 |
57 | E>G | No |
ClinGen gnomAD |
|
|
rs1585578114 CA365649654 |
57 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 58 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365649632 rs1415707319 |
58 | Q>P | No |
ClinGen gnomAD |
|
|
rs17855017 CA147898105 |
60 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17855017 CA4000317 |
60 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239146439 CA365649570 |
63 | I>M | No |
ClinGen gnomAD |
|
|
rs1173679606 CA365649576 |
63 | I>V | No |
ClinGen gnomAD |
|
|
CA147898082 COSM3941505 COSM3941504 rs111843376 |
64 | V>A | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771739983 CA4000316 |
64 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745715039 CA4000315 |
67 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4000314 rs779273362 |
68 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA365649489 rs1181914267 |
71 | H>R | No |
ClinGen gnomAD |
|
|
CA365649437 rs1267288026 |
75 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1672763 CA365649409 COSM1672764 rs1203989602 |
77 | S>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1477735458 CA365649372 |
80 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 81 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4000311 rs142771022 |
82 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4000310 rs756291187 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288032279 CA365649307 |
86 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1240644437 CA365649295 |
87 | V>I | No |
ClinGen gnomAD |
|
|
CA365649257 rs1358405036 |
88 | E>D | No |
ClinGen gnomAD |
|
|
rs1322586594 CA365649265 |
88 | E>V | No |
ClinGen gnomAD |
|
|
CA4000309 rs753098747 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365649229 rs1158834851 |
90 | G>S | No |
ClinGen TOPMed |
|
|
CA365649195 rs1418987136 |
91 | L>V | No |
ClinGen TOPMed |
|
|
CA147898034 rs1043300105 |
92 | L>F | No |
ClinGen Ensembl |
|
|
rs1317094326 CA365649173 |
93 | P>L | No |
ClinGen gnomAD |
|
|
rs1322133298 CA365649130 |
95 | R>T | No |
ClinGen TOPMed |
|
|
CA4000291 rs200660537 |
97 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA365648927 rs1322037739 |
97 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4000287 rs748302973 |
98 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748302973 CA4000289 |
98 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476891970 CA365648910 |
98 | C>W | No |
ClinGen gnomAD |
|
|
rs748302973 CA4000288 |
98 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4000285 rs755567501 |
99 | E>G | No |
ClinGen ExAC |
|
|
rs755567501 CA4000286 |
99 | E>V | No |
ClinGen ExAC |
|
|
CA365648889 rs752075407 |
100 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4000284 rs752075407 |
100 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780331692 CA4000283 |
102 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365648838 rs1244889129 |
105 | D>E | No |
ClinGen gnomAD |
|
|
CA147897085 rs112102141 |
105 | D>G | No |
ClinGen Ensembl |
|
|
rs1480102867 CA365648845 |
105 | D>N | No |
ClinGen gnomAD |
|
|
CA4000282 rs758795664 |
106 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1271867230 CA365648819 |
107 | L>P | No |
ClinGen gnomAD |
|
|
rs753464131 CA4000281 |
107 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467351855 CA365648767 |
111 | R>T | No |
ClinGen gnomAD |
|
|
rs752309910 CA4000278 |
114 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA365648706 rs1459897078 |
116 | A>V | No |
ClinGen Ensembl |
|
|
rs145843297 CA4000275 |
123 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762893295 CA4000273 |
128 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147896998 rs569927513 |
128 | G>R | No |
ClinGen gnomAD |
|
|
CA365648557 rs1469329053 |
130 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772625264 CA4000247 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746388016 COSM1073297 COSM1073296 CA4000246 |
135 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562405470 CA365647814 |
141 | I>T | No |
ClinGen Ensembl |
|
|
rs1247325233 CA365647749 |
144 | K>N | No |
ClinGen gnomAD |
|
|
CA365647679 rs1421750616 |
147 | T>I | No |
ClinGen gnomAD |
|
|
rs1313352690 CA365647663 |
148 | I>V | No |
ClinGen gnomAD |
|
|
rs377436817 CA4000244 |
150 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143799081 CA4000243 |
151 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1460485686 CA365647566 |
152 | V>G | No |
ClinGen gnomAD |
|
|
rs1163172330 CA365647580 |
152 | V>M | No |
ClinGen TOPMed |
|
|
RCV000171402 rs786205583 CA236271 |
160 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs786205583 CA365647405 |
160 | L>R | No |
ClinGen gnomAD |
|
|
rs751184913 CA365647363 |
162 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751184913 CA4000240 |
162 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287260950 CA365647305 |
165 | E>K | No |
ClinGen gnomAD |
|
|
rs1384885074 CA365647022 |
166 | V>F | No |
ClinGen gnomAD |
|
|
CA147895165 rs958069338 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA365646977 rs1339614317 |
168 | A>V | No |
ClinGen TOPMed |
|
|
CA4000227 rs774740647 |
170 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs749656205 CA4000225 |
173 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs768482534 CA4000223 |
175 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4000221 rs746673256 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4000219 rs758016148 |
180 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147895156 rs1030488059 |
181 | Y>C | No |
ClinGen Ensembl |
|
|
CA4000215 rs753630604 |
191 | Y>C | No |
ClinGen ExAC |
|
|
CA4000216 rs200654625 |
191 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1562403745 | 191 | Y>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763887065 CA365646655 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4000214 rs763887065 |
193 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4000213 rs201372314 |
194 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365646638 rs1585563494 |
195 | K>N | No |
ClinGen Ensembl |
|
|
rs373270284 CA4000212 |
195 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4000211 rs140127069 |
197 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4000210 rs759582160 |
198 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs997100681 CA147895137 |
199 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1554257255 RCV000498023 CA365646148 |
200 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs374797180 CA4000190 |
202 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378783420 CA365646124 |
203 | N>D | No |
ClinGen gnomAD |
|
|
CA147894774 rs935866047 |
203 | N>S | No |
ClinGen Ensembl |
|
|
rs567841635 CA4000189 |
205 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365646089 rs1242398507 |
206 | S>P | No |
ClinGen TOPMed |
|
|
rs773890728 CA4000187 |
210 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773890728 CA4000186 |
210 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1185549835 CA365646019 |
214 | P>A | No |
ClinGen gnomAD |
|
|
CA365646010 rs1363567438 |
215 | T>I | No |
ClinGen gnomAD |
|
|
CA4000185 rs770238471 |
215 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4000184 rs549723537 |
216 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1215722621 CA365645996 |
218 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772228042 CA147894730 |
220 | S>F | No |
ClinGen TOPMed |
|
|
rs1201241598 CA365645973 |
221 | I>T | No |
ClinGen TOPMed |
|
|
CA147894726 rs905087355 |
221 | I>V | No |
ClinGen TOPMed |
|
|
rs753633402 CA147894093 |
223 | G>D | No |
ClinGen Ensembl |
|
|
rs1293450628 CA365645944 |
224 | R>C | No |
ClinGen TOPMed |
|
|
rs777075154 CA4000166 |
225 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365645921 rs1489654489 |
227 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM177709 rs759066563 CA4000164 COSM177708 |
234 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1234219697 CA365645863 |
237 | I>L | No |
ClinGen TOPMed |
|
|
CA365645844 rs1407349356 |
239 | N>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 241 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748834850 CA4000161 |
241 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA365645824 rs1210565573 |
242 | K>T | No |
ClinGen TOPMed |
|
|
CA4000159 rs769783148 |
244 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4000157 rs780899812 |
249 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4000156 rs754833772 |
249 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365645766 rs1244836599 |
251 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1468683773 CA365645755 |
253 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319312719 CA365645726 |
257 | P>L | No |
ClinGen gnomAD |
|
|
CA365645729 rs1260500330 |
257 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758380677 CA4000153 |
258 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199648460 CA147894043 |
258 | Y>H | No |
ClinGen 1000Genomes |
|
|
CA4000152 rs750599954 |
259 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365645719 rs1215738928 |
259 | D>N | No |
ClinGen gnomAD |
|
|
CA365645689 rs1435106235 |
261 | D>G | No |
ClinGen gnomAD |
|
|
rs1265804325 CA365645660 |
265 | P>L | No |
ClinGen TOPMed |
|
|
CA365645656 rs1156598146 |
266 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA365645612 rs1585549744 |
272 | Y>F | No |
ClinGen Ensembl |
|
|
rs1408221832 CA365645590 |
275 | E>D | No |
ClinGen gnomAD |
|
|
rs1180807152 CA365645580 |
277 | P>T | No |
ClinGen gnomAD |
|
|
rs1156582554 CA365645565 |
279 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269212417 CA365645532 |
283 | V>A | No |
ClinGen TOPMed |
|
|
rs756429077 CA4000129 |
285 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA4000128 rs553975130 |
286 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4000127 rs767788265 |
288 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA147893083 rs1034272221 |
288 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365645487 rs1318998758 |
290 | N>S | No |
ClinGen gnomAD |
|
|
CA365645468 rs879189836 |
292 | Q>H | No |
ClinGen TOPMed |
|
|
CA365678527 rs1215581346 |
293 | H>Q | No |
ClinGen gnomAD |
|
|
CA365678509 rs1280877761 |
295 | Q>* | No |
ClinGen gnomAD |
|
|
CA365678496 rs1339304157 |
296 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748217914 CA4000074 |
296 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4000073 rs145981098 |
298 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145981098 CA365678472 |
298 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562392765 CA365678466 |
299 | V>L | No |
ClinGen Ensembl |
|
|
CA365678454 rs1307231377 |
300 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs911863875 CA147925274 |
302 | D>G | No |
ClinGen TOPMed |
|
|
CA365678389 rs1268537313 |
306 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769214302 CA4000072 |
308 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA365678380 rs1354603424 |
308 | V>I | No |
ClinGen TOPMed |
|
|
CA4000071 rs374989094 |
310 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365678309 rs1368025107 |
314 | R>Q | No |
ClinGen gnomAD |
|
|
RCV000192861 rs797045702 CA205978 |
318 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4000065 rs752313112 |
323 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs867833249 CA147925174 |
323 | D>N | No |
ClinGen gnomAD |
|
|
CA365678122 rs1205424905 |
324 | G>E | No |
ClinGen gnomAD |
|
|
rs1043009702 CA147925155 |
325 | G>A | No |
ClinGen Ensembl |
|
| rs770588171 | 325 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4000063 rs754894802 |
325 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751579845 CA4000061 |
327 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA365678079 rs1234560294 |
327 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762706206 CA4000059 |
337 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365677694 rs1320676322 |
348 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 349 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778913588 CA147925115 |
352 | M>I | No |
ClinGen Ensembl |
|
|
rs1383033751 CA365677614 |
355 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365676972 rs1585529678 |
358 | Q>R | No |
ClinGen Ensembl |
|
|
CA365676956 rs1390246500 |
359 | K>R | No |
ClinGen gnomAD |
|
|
rs761959753 CA4000038 |
361 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754093942 CA4000036 |
374 | W>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 376 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770689010 CA147923390 |
378 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770689010 CA365676494 |
378 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 387 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365676328 rs1301696951 |
388 | A>V | No |
ClinGen gnomAD |
|
|
rs1230462589 CA365676286 |
392 | F>S | No |
ClinGen Ensembl |
|
|
CA365676199 COSM1073284 rs1229061787 COSM1073285 |
400 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1270965882 CA365676128 |
406 | K>R | No |
ClinGen gnomAD |
|
|
CA4000018 rs745827320 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1408152774 CA365676018 |
411 | V>I | No |
ClinGen gnomAD |
|
|
CA365675993 rs977425547 |
413 | D>A | No |
ClinGen gnomAD |
|
|
rs1255977296 CA365675991 |
413 | D>E | No |
ClinGen gnomAD |
|
|
CA147922298 rs977425547 |
413 | D>V | No |
ClinGen gnomAD |
|
|
CA365675980 rs1190543104 |
414 | I>T | No |
ClinGen gnomAD |
|
|
rs778536529 CA4000017 |
415 | N>D | No |
ClinGen ExAC |
|
| TCGA novel | 433 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214004111 CA365675769 |
433 | N>S | No |
ClinGen gnomAD |
|
|
CA4000015 rs754024456 |
440 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764364108 CA4000014 |
442 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA147922264 rs200510285 |
443 | L>R | No |
ClinGen Ensembl |
|
|
CA365675593 rs1332611848 |
448 | P>T | No |
ClinGen gnomAD |
|
|
rs1279974185 CA365675565 |
449 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs267600811 CA147922260 |
453 | L>P | No |
ClinGen Ensembl |
|
|
CA365675492 rs1488340019 |
455 | H>R | No |
ClinGen TOPMed |
|
|
rs1294988228 CA365675482 |
456 | E>K | No |
ClinGen gnomAD |
|
|
rs752994789 CA3999994 |
460 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999995 rs756260171 |
460 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs267600810 CA147921394 |
462 | L>P | No |
ClinGen Ensembl |
|
|
RCV001310936 rs1324734688 |
463 | R>* | No |
ClinVar dbSNP |
|
|
rs781188555 CA3999993 |
463 | R>KS* | No |
ClinGen ExAC |
|
|
rs867049420 CA147921387 |
463 | R>T | No |
ClinGen Ensembl |
|
|
CA3999991 rs376431105 |
467 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365674392 rs1434177674 |
468 | Q>R | No |
ClinGen TOPMed |
|
|
rs999841115 CA147921376 |
476 | L>V | No |
ClinGen Ensembl |
|
|
rs868191324 CA147921375 |
477 | L>S | No |
ClinGen Ensembl |
|
|
rs902434963 CA147921369 |
479 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA365674252 rs1193310198 |
480 | A>T | No |
ClinGen gnomAD |
|
|
rs1051505682 CA147921338 |
486 | E>G | No |
ClinGen TOPMed |
|
|
rs1286814352 CA365674157 |
490 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 494 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387176383 CA365674089 |
496 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 497 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365674072 rs1214365442 |
498 | T>A | No |
ClinGen gnomAD |
|
|
CA365674067 rs1480286524 |
498 | T>I | No |
ClinGen gnomAD |
|
|
rs1249497539 CA365674058 |
499 | I>T | No |
ClinGen gnomAD |
|
|
CA365673998 rs1303288047 |
505 | M>L | No |
ClinGen TOPMed |
|
|
rs1158267892 CA365673996 |
505 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 506 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760209642 CA365673964 |
508 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA365673961 rs1343513201 |
508 | P>R | No |
ClinGen TOPMed |
|
|
CA3999984 rs760209642 |
508 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001310935 rs1775777469 |
510 | P>S | No |
ClinVar dbSNP |
|
|
rs1490542850 CA365673933 |
511 | G>A | No |
ClinGen gnomAD |
|
|
CA365673835 rs1303563887 |
520 | I>T | No |
ClinGen gnomAD |
|
|
rs1372702202 CA365673840 |
520 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774140465 CA3999980 |
521 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365673814 rs1396424131 |
522 | P>L | No |
ClinGen gnomAD |
|
|
CA365673815 rs1396424131 |
522 | P>R | No |
ClinGen gnomAD |
|
|
CA3999979 rs770794857 |
524 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA365673792 rs1331336575 |
525 | M>V | No |
ClinGen TOPMed |
|
|
CA365673718 rs1260431452 |
532 | T>R | No |
ClinGen TOPMed |
|
|
rs1371620274 CA365673687 |
535 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365673564 rs1373066912 |
540 | I>V | No |
ClinGen TOPMed |
|
|
rs759121589 CA3999964 |
543 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs139122967 CA3999963 |
547 | V>L | No |
ClinGen ESP ExAC |
|
|
CA365673376 rs1256675950 |
556 | S>G | No |
ClinGen gnomAD |
|
|
CA147920384 rs373417283 |
559 | L>S | No |
ClinGen ESP TOPMed |
|
|
rs1185543385 CA365673348 |
559 | L>V | No |
ClinGen gnomAD |
|
|
CA365673312 rs1257958175 |
562 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762828002 CA3999961 |
566 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754210334 CA147920328 |
567 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 567 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1440490 rs1262016530 COSM1440491 CA365673223 |
569 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs779186762 CA147920323 |
569 | R>H | No |
ClinGen gnomAD |
|
|
rs1330451974 CA365673090 |
577 | E>* | No |
ClinGen gnomAD |
|
|
CA3999940 rs773129498 |
606 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391305162 CA365672434 |
610 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3999938 rs761672482 |
611 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM87997 CA365672410 rs1188871063 COSM87998 |
612 | M>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 627 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562384653 CA365672184 |
630 | L>S | No |
ClinGen Ensembl |
|
|
CA3999936 rs747182218 |
632 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 634 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147919345 rs775096931 |
635 | Q>* | No |
ClinGen Ensembl |
|
|
CA3999933 rs745997916 |
640 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365672015 rs1276328623 |
642 | H>Y | No |
ClinGen TOPMed |
|
|
rs770936415 CA3999914 |
646 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147918740 rs953651079 |
650 | L>F | No |
ClinGen Ensembl |
|
|
rs148273952 CA3999913 |
653 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3999912 rs778182924 |
654 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756466464 CA3999911 |
654 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296987416 CA365671693 |
657 | G>V | No |
ClinGen TOPMed |
|
|
rs781551371 CA3999909 |
658 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781551371 CA365671681 |
658 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147918686 rs890487381 |
660 | E>Q | No |
ClinGen TOPMed |
|
|
rs1469074927 CA365671649 |
661 | V>L | No |
ClinGen gnomAD |
|
|
CA3999907 rs750108757 |
662 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3999905 rs372590711 |
663 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 663 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240522677 CA365671568 |
667 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 667 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999903 rs764009300 |
674 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 677 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222094692 CA365671398 COSM269571 COSM269570 |
678 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 682 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 682 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585501685 CA365671303 |
684 | N>T | No |
ClinGen Ensembl |
|
|
CA147918610 rs200807237 |
685 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200807237 CA3999898 |
685 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365671284 rs1219630970 |
685 | R>Q | No |
ClinGen TOPMed |
|
|
CA365671261 rs1353406799 |
686 | A>V | No |
ClinGen gnomAD |
|
|
CA3999897 rs200336520 |
688 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365671174 rs1401874524 |
692 | A>G | No |
ClinGen gnomAD |
|
|
CA365671158 rs1160627777 |
693 | R>G | No |
ClinGen gnomAD |
|
|
rs113634905 CA147918525 |
695 | T>I | No |
ClinGen Ensembl |
|
|
CA3999892 rs748660852 |
696 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1585501465 CA365671106 |
697 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 699 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424690250 CA365670310 |
701 | F>L | No |
ClinGen gnomAD |
|
| rs1419084791 | 701 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 702 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 705 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999875 rs769895441 |
707 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3999874 rs762260925 |
708 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147916919 rs866098903 |
709 | G>R | No |
ClinGen Ensembl |
|
|
CA365670187 rs1467110586 |
711 | W>* | No |
ClinGen gnomAD |
|
|
CA365670169 rs1267075459 |
713 | K>R | No |
ClinGen gnomAD |
|
|
CA3999872 rs768981315 |
715 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3999871 rs747402580 |
721 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs112638111 CA147916883 |
734 | C>S | No |
ClinGen gnomAD |
|
|
rs1430391602 CA365669901 |
737 | G>C | No |
ClinGen gnomAD |
|
|
rs369592123 CA147915976 |
741 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1176851972 CA365669693 |
745 | Q>R | No |
ClinGen gnomAD |
|
|
CA365669628 rs1248275303 |
749 | P>L | No |
ClinGen gnomAD |
|
|
CA365669630 rs1248275303 |
749 | P>R | No |
ClinGen gnomAD |
|
|
rs773037666 CA3999847 |
755 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA147915955 rs909003843 |
758 | K>R | No |
ClinGen TOPMed |
|
|
CA365669450 rs1256521832 |
759 | N>I | No |
ClinGen gnomAD |
|
| rs765921048 | 759 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585488260 CA365669245 |
770 | M>V | No |
ClinGen Ensembl |
|
|
rs1300017800 CA365669213 |
771 | S>C | No |
ClinGen TOPMed |
|
|
rs893671485 CA147915941 |
771 | S>N | No |
ClinGen Ensembl |
|
|
CA3999842 rs754806196 |
772 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3999840 rs779666515 |
773 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365669103 rs1337328771 |
776 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 779 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999838 rs750615192 |
781 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1226966833 CA365669004 |
781 | S>T | No |
ClinGen TOPMed |
|
|
rs1312621138 CA365668976 |
782 | M>V | No |
ClinGen gnomAD |
|
|
rs1253887844 CA365668943 |
783 | Q>* | No |
ClinGen gnomAD |
|
|
CA147915907 rs924609151 |
785 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 788 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365668794 rs1438918301 |
790 | L>V | No |
ClinGen TOPMed |
|
|
rs1204584670 CA365668773 |
791 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 796 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999833 rs753843797 |
802 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA365668589 rs1585487954 |
802 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999832 rs764260814 |
804 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185474066 CA365668452 |
806 | I>M | No |
ClinGen gnomAD |
|
|
rs761051027 CA3999830 |
809 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA365668241 rs1363730451 |
813 | R>I | No |
ClinGen gnomAD |
|
|
rs922889806 CA147915745 |
814 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 819 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 822 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999817 rs778679408 |
823 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365667711 rs1299960030 |
836 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 840 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 842 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365667559 rs1554254131 RCV000523975 |
843 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 845 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 845 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391239371 CA365667493 |
846 | C>S | No |
ClinGen gnomAD |
|
|
CA365667450 rs1167086256 |
848 | E>A | No |
ClinGen gnomAD |
|
|
CA365667419 rs1280550998 |
849 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1391586563 CA365667368 |
852 | D>A | No |
ClinGen gnomAD |
|
|
CA365667338 rs1443810688 |
853 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 854 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999807 rs766871716 |
856 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761515957 CA3999806 |
859 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 862 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147911268 rs920798174 |
871 | M>I | No |
ClinGen TOPMed |
|
|
rs142460188 CA365665620 CA365665621 |
871 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3999782 rs142460188 |
871 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1440485 rs972306714 CA147911265 COSM1440484 |
872 | R>C | large_intestine Variant assessed as Somatic; impact. stomach [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1357020662 CA365665608 |
872 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365665598 rs1335654932 |
873 | S>N | No |
ClinGen gnomAD |
|
|
rs774324863 CA365665569 |
875 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs774324863 CA3999780 |
875 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1272279926 CA365665557 |
876 | G>E | No |
ClinGen Ensembl |
|
|
rs1159165704 CA365665544 |
878 | E>* | No |
ClinGen gnomAD |
|
|
rs770701219 CA3999779 |
879 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA365665520 rs1414716700 |
880 | Q>* | No |
ClinGen gnomAD |
|
|
CA365665485 rs1490095942 |
883 | Y>C | No |
ClinGen TOPMed |
|
|
CA365665372 rs1183286970 |
894 | N>S | No |
ClinGen gnomAD |
|
|
rs777436261 COSM1214849 COSM1214848 CA3999777 |
895 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA147911220 rs866208594 |
899 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA147911208 rs750084430 |
899 | R>Q | No |
ClinGen gnomAD |
|
|
rs1267578533 CA365665311 |
900 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA365665283 rs9493031 |
902 | D>E | No |
ClinGen gnomAD |
|
|
CA147911202 rs28706462 |
905 | K>N | No |
ClinGen Ensembl |
|
|
CA3999776 rs770000961 |
908 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA365665134 rs1227487355 |
916 | D>H | No |
ClinGen gnomAD |
|
|
rs755148992 CA3999773 |
917 | W>* | No |
ClinGen ExAC TOPMed |
|
|
rs201736450 CA3999772 |
920 | K>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 922 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999770 rs758828537 |
922 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs750729693 CA3999769 |
923 | N>I | No |
ClinGen ExAC |
|
|
CA3999768 rs765529782 |
925 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA147910557 rs371527053 |
927 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365664823 rs1367324342 |
929 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365664835 rs1427905711 |
929 | P>T | No |
ClinGen gnomAD |
|
|
rs762908619 CA3999743 |
932 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999739 rs761570260 |
938 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3999738 rs776987373 |
938 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1342339007 CA365664650 |
940 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 943 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210533524 CA365664584 |
943 | P>R | No |
ClinGen TOPMed |
|
|
rs1253062646 CA365664525 |
947 | I>M | No |
ClinGen TOPMed |
|
|
rs1009698294 CA147910458 |
951 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 953 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365664418 rs1366040841 |
953 | P>L | No |
ClinGen gnomAD |
|
|
rs183483337 CA3999734 |
955 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1370196278 CA365664356 |
957 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 959 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150404447 CA147910410 |
962 | R>* | No |
ClinGen ESP TOPMed |
|
|
rs1306481786 CA365664250 |
962 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749591327 CA3999729 |
969 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3999730 rs757638893 |
969 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3999728 rs778125304 |
972 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1422423378 CA365664027 |
973 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 975 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302160153 CA365663947 |
976 | E>A | No |
ClinGen TOPMed |
|
|
CA365663876 rs1419291635 |
979 | P>L | No |
ClinGen gnomAD |
|
|
CA365663861 rs1206899907 |
981 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 986 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750359174 CA3999723 |
993 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA365663609 rs1310957476 |
994 | L>I | No |
ClinGen gnomAD |
|
|
CA3999722 rs765152762 |
995 | Y>C | No |
ClinGen ExAC |
|
|
CA365663560 rs1224659801 |
996 | K>T | No |
ClinGen gnomAD |
|
|
CA147908962 rs759878757 |
999 | D>G | No |
ClinGen gnomAD |
|
|
rs1306540530 CA365663497 |
999 | D>N | No |
ClinGen gnomAD |
|
|
CA147908956 rs866726564 |
1000 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1161103209 CA365663281 |
1000 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778496191 CA3999702 |
1001 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1437928611 CA365663262 |
1003 | T>I | No |
ClinGen TOPMed |
|
|
CA3999701 rs757091018 |
1004 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753853344 CA3999700 |
1005 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA365663246 rs1256275283 |
1006 | Y>C | No |
ClinGen gnomAD |
|
|
CA3999698 rs760607856 |
1008 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1266719538 CA365663222 |
1010 | H>Y | No |
ClinGen gnomAD |
|
|
rs767571500 CA3999696 |
1011 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759820372 CA3999695 |
1012 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA365663193 rs1242941429 |
1014 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3999694 rs774248617 |
1015 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1016 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899292258 CA147908904 |
1017 | R>T | No |
ClinGen Ensembl |
|
|
CA365663162 rs1315854706 |
1018 | D>V | No |
ClinGen gnomAD |
|
|
rs773757521 CA365663146 |
1020 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773757521 CA3999691 |
1020 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940423410 CA147908882 |
1020 | A>V | No |
ClinGen TOPMed |
|
|
CA147908826 rs1033347887 |
1023 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3999688 rs777057285 |
1024 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000500459 rs1554253506 CA365663063 |
1026 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1167434123 CA365663059 |
1027 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745553833 CA3999686 |
1029 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs745553833 CA365663022 |
1029 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196010450 CA365663014 |
1030 | I>V | No |
ClinGen gnomAD |
|
|
CA365662996 rs1178160573 |
1031 | I>T | No |
ClinGen TOPMed |
|
|
CA147908783 rs1056905080 |
1031 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1033 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1038 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777929351 CA3999682 |
1038 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA365662907 rs777929351 |
1038 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376944115 CA3999681 |
1039 | P>L | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365662884 rs1227926952 |
1040 | Q>* | No |
ClinGen gnomAD |
|
|
CA365662847 rs562060403 |
1042 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999678 rs562060403 |
1042 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147908754 rs979983353 |
1045 | S>R | No |
ClinGen TOPMed |
|
|
rs1267947134 CA365662785 |
1047 | T>I | No |
ClinGen gnomAD |
|
|
CA570097434 rs1226763879 |
1048 | Y>* | No |
ClinGen gnomAD |
|
|
CA3999675 rs151337645 |
1052 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562373867 CA365662733 |
1055 | A>T | No |
ClinGen Ensembl |
|
|
rs1562373859 CA365662728 |
1055 | A>V | No |
ClinGen Ensembl |
|
|
rs556616129 CA3999674 |
1056 | R>* | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1388241656 CA365662724 |
1056 | R>Q | No |
ClinGen gnomAD |
|
|
CA365662714 rs1406184235 |
1058 | E>Q | No |
ClinGen TOPMed |
|
|
rs1365953595 CA365662707 |
1059 | N>H | No |
ClinGen gnomAD |
|
|
rs1449695148 CA365662679 |
1062 | V>G | No |
ClinGen TOPMed |
|
|
rs762320105 CA3999672 |
1064 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3999671 rs776808576 |
1070 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365662613 rs1476043413 |
1072 | I>V | No |
ClinGen gnomAD |
|
|
rs1232644236 CA365662592 |
1075 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3999668 rs200324472 |
1077 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198083485 CA365662575 |
1078 | T>A | No |
ClinGen TOPMed |
|
|
CA3999658 rs758623991 |
1078 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA147907999 rs867172484 |
1081 | G>D | No |
ClinGen Ensembl |
|
|
rs921131278 CA147907992 |
1083 | S>P | No |
ClinGen Ensembl |
|
|
CA365662065 rs1310471734 |
1085 | G>A | No |
ClinGen TOPMed |
|
|
rs1334153399 CA365662003 |
1088 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1088 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365661912 rs765319764 |
1090 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1092 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762264971 CA3999653 |
1092 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365661854 rs1260014793 |
1092 | W>G | No |
ClinGen TOPMed |
|
|
COSM312825 COSM312824 CA3999652 rs777230921 |
1095 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1413693988 CA365661691 |
1097 | F>V | No |
ClinGen TOPMed |
|
|
CA3999650 rs761171497 |
1101 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999649 rs775726173 |
1103 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3999648 rs762719385 |
1105 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA147907922 rs745402762 |
1106 | H>R | No |
ClinGen TOPMed |
|
|
CA365661316 rs1327744350 |
1107 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1108 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909169128 CA147907911 |
1117 | V>L | No |
ClinGen TOPMed |
|
|
CA365660883 rs1354598854 |
1121 | E>D | No |
ClinGen TOPMed |
|
|
rs928879203 CA365660857 |
1122 | V>A | No |
ClinGen gnomAD |
|
|
CA147907870 rs928879203 |
1122 | V>G | No |
ClinGen gnomAD |
|
|
CA3999645 rs370208169 |
1122 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147907866 rs201750906 |
1123 | G>W | No |
ClinGen 1000Genomes |
|
|
rs1476772224 CA365660768 |
1126 | L>P | No |
ClinGen gnomAD |
|
|
rs1476772224 CA365660766 |
1126 | L>R | No |
ClinGen gnomAD |
|
|
rs981694966 CA147907865 |
1127 | L>P | No |
ClinGen Ensembl |
|
|
rs1472581224 CA365660727 |
1128 | N>T | No |
ClinGen gnomAD |
|
|
CA365660709 rs1585464495 |
1129 | V>A | No |
ClinGen Ensembl |
|
|
rs1316108340 CA365660617 |
1133 | S>I | No |
ClinGen TOPMed |
|
|
rs1316108340 CA365660623 |
1133 | S>N | No |
ClinGen TOPMed |
|
|
rs374105484 CA147907444 |
1134 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA147907437 rs990351191 |
1140 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1140 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779161970 CA3999618 |
1141 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1213351118 CA365660181 |
1142 | I>F | No |
ClinGen gnomAD |
|
|
rs757429079 CA3999617 |
1143 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365660163 rs757429079 |
1143 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756936594 CA147907393 |
1144 | A>S | No |
ClinGen Ensembl |
|
|
CA147907387 rs1003602582 |
1149 | I>T | No |
ClinGen TOPMed |
|
|
rs905266119 CA147907376 |
1152 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365659924 rs905266119 |
1152 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs957795180 CA147907354 |
1154 | T>A | No |
ClinGen Ensembl |
|
|
rs537297167 CA3999614 |
1155 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777742329 CA3999615 |
1155 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3999616 rs777742329 |
1155 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753298239 CA3999613 |
1157 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753298239 CA365659767 |
1157 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365659002 rs1249088676 |
1159 | P>L | No |
ClinGen gnomAD |
|
|
CA365658937 rs1354907862 |
1161 | W>C | No |
ClinGen TOPMed |
|
|
rs1225945957 CA365658933 |
1162 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1164 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999592 rs755548604 |
1165 | H>R | No |
ClinGen ExAC |
|
|
rs994278106 CA147906615 |
1171 | V>I | No |
ClinGen TOPMed |
|
|
rs1210091169 CA365658742 |
1172 | I>V | No |
ClinGen gnomAD |
|
|
rs909543659 CA147906597 |
1178 | T>M | No |
ClinGen gnomAD |
|
|
CA3999587 rs763635135 |
1184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3999588 rs753472645 |
1184 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999586 rs760234442 |
1189 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146599947 COSM1073252 COSM1073251 CA3999585 |
1189 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1190 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202076275 CA3999583 |
1192 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1193 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866389475 CA147906524 |
1197 | H>D | No |
ClinGen Ensembl |
|
|
rs774160315 CA147906506 |
1198 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749504357 CA3999580 |
1199 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749504357 CA3999581 |
1199 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999578 rs769914980 |
1203 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA365658066 rs1400187224 |
1204 | S>N | No |
ClinGen TOPMed |
|
|
rs748173524 CA3999577 |
1207 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1208 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3173127 COSM3173126 rs781433865 CA3999576 |
1208 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438931083 CA365657947 |
1210 | A>T | No |
ClinGen TOPMed |
|
|
CA365657910 rs1204862018 |
1212 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1213 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365657856 rs1378083891 |
1214 | A>T | No |
ClinGen TOPMed |
|
|
CA365657688 rs1259311947 |
1220 | S>R | No |
ClinGen gnomAD |
|
|
rs572370282 CA3999574 |
1221 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780433686 CA3999573 |
1222 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275205100 CA365657625 COSM450483 COSM450482 |
1223 | Q>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3999571 rs753511838 |
1223 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147906386 rs781727385 |
1226 | L>F | No |
ClinGen Ensembl |
|
|
CA365657528 rs1350509760 |
1227 | I>V | No |
ClinGen TOPMed |
|
|
rs750134866 CA3999544 |
1232 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994292384 CA147905190 |
1234 | V>I | No |
ClinGen Ensembl |
|
|
rs1562369161 CA365657226 |
1235 | L>F | No |
ClinGen Ensembl |
|
|
rs1281087782 CA365657224 |
1235 | L>P | No |
ClinGen gnomAD |
|
|
CA3999543 rs765153641 |
1236 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397628773 CA365657173 |
1237 | P>L | No |
ClinGen TOPMed |
|
|
rs1407775210 CA365657169 |
1238 | I>V | No |
ClinGen gnomAD |
|
|
rs1397999561 CA365657159 |
1239 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs148431716 COSM204149 COSM204148 CA3999540 |
1242 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365657115 rs1197660812 |
1243 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA365657116 rs1197660812 |
1243 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs891136309 CA147905167 |
1244 | Q>H | No |
ClinGen TOPMed |
|
|
rs768839767 CA3999538 |
1247 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365657048 rs1216179472 |
1249 | Y>* | No |
ClinGen TOPMed |
|
|
CA365657038 rs1436193834 |
1250 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1254 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3999536 rs374394283 |
1254 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867692077 CA147905146 |
1257 | Q>P | No |
ClinGen Ensembl |
|
|
CA3999534 rs746420372 |
1263 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA365656883 rs1345903129 |
1264 | T>I | No |
ClinGen gnomAD |
|
|
rs1211546412 CA365656879 |
1265 | R>C | No |
ClinGen TOPMed |
|
|
CA3999533 rs770824001 |
1265 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1439527416 CA365656864 |
1266 | C>F | No |
ClinGen gnomAD |
|
|
CA3999512 rs773581524 |
1270 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585448688 CA365656773 |
1270 | I>V | No |
ClinGen Ensembl |
|
|
COSM1286143 rs768146584 COSM1286144 CA3999511 |
1273 | A>V | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs71572975 CA147904311 |
1280 | N>D | No |
ClinGen gnomAD |
|
|
rs993763118 CA147904288 |
1281 | V>I | No |
ClinGen Ensembl |
|
|
CA365655775 rs1405503489 |
1283 | Q>H | No |
ClinGen Ensembl |
|
|
CA365655759 rs1275848812 |
1285 | S>G | No |
ClinGen TOPMed |
|
|
CA3999510 rs139398917 |
1285 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1289 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365655655 rs1585448544 |
1290 | Y>D | No |
ClinGen Ensembl |
|
|
CA3999508 rs779056840 |
1291 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA147904266 rs1033870635 |
1291 | M>V | No |
ClinGen Ensembl |
|
|
rs1227193933 CA365655550 |
1296 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1297 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365655489 rs1461671381 |
1299 | Y>C | No |
ClinGen gnomAD |
|
|
rs200886458 CA3999507 |
1301 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368192529 CA3999506 |
1301 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365655345 rs1562367900 |
1307 | G>C | No |
ClinGen Ensembl |
|
|
CA3999504 rs756261655 |
1310 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356694201 CA365655290 |
1312 | E>Q | No |
ClinGen gnomAD |
|
|
rs1585441926 CA365655144 |
1314 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1315 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147902695 rs992601207 |
1315 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 1315 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305043795 CA365655074 |
1316 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3999487 rs755998904 |
1317 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172659489 CA365655046 |
1318 | I>F | No |
ClinGen TOPMed |
|
|
CA3999485 rs781409761 |
1318 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA365654954 rs1198337752 |
1323 | P>R | No |
ClinGen gnomAD |
|
|
CA365654958 rs1420002903 |
1323 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201087578 CA3999481 |
1328 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201087578 CA147902622 |
1328 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3999479 rs765505158 |
1333 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1333 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367765044 CA3999478 |
1334 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543269485 CA365654763 |
1335 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3999477 rs543269485 |
1335 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365654690 rs1285502310 |
1338 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3999476 rs771693452 |
1338 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999475 rs201383367 |
1342 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201383367 CA3999474 |
1342 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147902486 rs980919278 |
1344 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3999471 rs777837098 |
1345 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3999470 rs777837098 |
1345 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA147902471 rs200297631 |
1345 | P>S | No |
ClinGen Ensembl |
|
|
CA3999469 rs77707529 |
1346 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs755196070 CA3999467 |
1348 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755196070 CA3999468 |
1348 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365654475 rs1198897993 |
1349 | N>I | No |
ClinGen TOPMed |
|
|
CA147902453 rs867949007 |
1350 | S>G | No |
ClinGen gnomAD |
|
|
CA147902451 rs143711527 |
1350 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs867949007 CA365654472 |
1350 | S>R | No |
ClinGen gnomAD |
|
|
rs780083501 CA3999464 |
1353 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751821643 CA3999465 |
1353 | P>S | No |
ClinGen ExAC |
|
|
CA3999463 rs758530824 |
1354 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1562365936 CA365654344 |
1358 | N>H | No |
ClinGen Ensembl |
|
|
CA365654340 rs1227367080 |
1358 | N>I | No |
ClinGen gnomAD |
|
|
rs765709336 CA3999461 |
1359 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM71618 CA3999460 rs762236596 |
1360 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234268417 CA365654298 |
1361 | P>L | No |
ClinGen gnomAD |
|
|
rs1384093131 CA365654289 |
1362 | V>A | No |
ClinGen TOPMed |
|
|
CA3999457 rs759231398 |
1362 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3999456 rs774207161 |
1364 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365654215 rs1305000346 |
1368 | Q>L | No |
ClinGen TOPMed |
1 associated diseases with Q9ULK4
[MIM: 614249]: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy (MRT18)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21868677}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21868677}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9ULK4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9ULK4 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| core mediator complex | A protein complex that interacts with the carboxy-terminal domain of the largest subunit of RNA polymerase II and plays an active role in transducing the signal from a transcription factor to the transcriptional machinery. The core mediator complex has a stimulatory effect on basal transcription, and contains most of the same subdomains as the larger form of mediator complex -- a head domain comprising proteins known in Saccharomyces as Srb2, -4, and -5, Med6, -8, and -11, and Rox3 proteins; a middle domain comprising Med1, -4, and -7, Nut1 and -2, Cse2, Rgr1, Soh1, and Srb7 proteins; and a tail consisting of Gal11p, Med2p, Pgd1p, and Sin4p -- but lacks the regulatory subcomplex comprising Ssn2, -3, and -8, and Srb8 proteins. Metazoan core mediator complexes have similar modular structures and include homologs of yeast Srb and Med proteins. |
| mediator complex | A protein complex that interacts with the carboxy-terminal domain of the largest subunit of RNA polymerase II and plays an active role in transducing the signal from a transcription factor to the transcriptional machinery. The mediator complex is required for activation of transcription of most protein-coding genes, but can also act as a transcriptional corepressor. The Saccharomyces complex contains several identifiable subcomplexes: a head domain comprising Srb2, -4, and -5, Med6, -8, and -11, and Rox3 proteins; a middle domain comprising Med1, -4, and -7, Nut1 and -2, Cse2, Rgr1, Soh1, and Srb7 proteins; a tail consisting of Gal11p, Med2p, Pgd1p, and Sin4p; and a regulatory subcomplex comprising Ssn2, -3, and -8, and Srb8 proteins. Metazoan mediator complexes have similar modular structures and include homologs of yeast Srb and Med proteins. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of transcription elongation by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| positive regulation of transcription initiation by RNA polymerase II | Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| RNA polymerase II preinitiation complex assembly | The aggregation, arrangement and bonding together of proteins on an RNA polymerase II promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription by RNA polymerase. |
| transcription initiation at RNA polymerase II promoter | A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9W1X7 | MED23 | Mediator of RNA polymerase II transcription subunit 23 | Drosophila melanogaster (Fruit fly) | PR |
| Q80YQ2 | Med23 | Mediator of RNA polymerase II transcription subunit 23 | Mus musculus (Mouse) | PR |
| Q5EB59 | Med23 | Mediator of RNA polymerase II transcription subunit 23 | Rattus norvegicus (Rat) | PR |
| Q10669 | sur-2 | Mediator of RNA polymerase II transcription subunit 23 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METQLQSIFE | EVVKTEVIEE | AFPGMFMDTP | EDEKTKLISC | LGAFRQFWGG | LSQESHEQCI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QWIVKFIHGQ | HSPKRISFLY | DCLAMAVETG | LLPPRLVCES | LINSDTLEWE | RTQLWALTFK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVRKIIGGVD | YKGVRDLLKV | ILEKILTIPN | TVSSAVVQQL | LAAREVIAYI | LERNACLLPA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YFAVTEIRKL | YPEGKLPHWL | LGNLVSDFVD | TFRPTARINS | ICGRCSLLPV | VNNSGAICNS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WKLDPATLRF | PLKGLLPYDK | DLFEPQTALL | RYVLEQPYSR | DMVCNMLGLN | KQHKQRCPVL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EDQLVDLVVY | AMERSETEEK | FDDGGTSQLL | WQHLSSQLIF | FVLFQFASFP | HMVLSLHQKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AGRGLIKGRD | HLMWVLLQFI | SGSIQKNALA | DFLPVMKLFD | LLYPEKEYIP | VPDINKPQST |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HAFAMTCIWI | HLNRKAQNDN | SKLQIPIPHS | LRLHHEFLQQ | SLRNKSLQMN | DYKIALLCNA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YSTNSECFTL | PMGALVETIY | GNGIMRIPLP | GTNCMASGSI | TPLPMNLLDS | LTVHAKMSLI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HSIATRVIKL | AHAKSSVALA | PALVETYSRL | LVYMEIESLG | IKGFISQLLP | TVFKSHAWGI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LHTLLEMFSY | RMHHIQPHYR | VQLLSHLHTL | AAVAQTNQNQ | LHLCVESTAL | RLITALGSSE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VQPQFTRFLS | DPKTVLSAES | EELNRALILT | LARATHVTDF | FTGSDSIQGT | WCKDILQTIM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SFTPHNWASH | TLSCFPGPLQ | AFFKQNNVPQ | ESRFNLKKNV | EEEYRKWKSM | SNENDIITHF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SMQGSPPLFL | CLLWKMLLET | DHINQIGYRV | LERIGARALV | AHVRTFADFL | VYEFSTSAGG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QQLNKCIEIL | NDMVWKYNIV | TLDRLILCLA | MRSHEGNEAQ | VCYFIIQLLL | LKPNDFRNRV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SDFVKENSPE | HWLQNDWHTK | HMNYHKKYPE | KLYFEGLAEQ | VDPPVQIQSP | YLPIYFGNVC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LRFLPVFDIV | IHRFLELLPV | SKSLETLLDH | LGGLYKFHDR | PVTYLYNTLH | YYEMHLRDRA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FLKRKLVHAI | IGSLKDNRPQ | GWCLSDTYLK | CAMNAREENP | WVPDDTYYCR | LIGRLVDTMA |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GKSPGPFPNC | DWRFNEFPNP | AAHALHVTCV | ELMALAVSGK | EVGNALLNVV | LKSQPLVPRE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| NITAWMNAIG | LIITALPEPY | WIVLHDRIVS | VISSPSLTSE | TEWVGYPFRL | FDFTACHQSY |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| SEMSCSYTLA | LAHAVWHHSS | IGQLSLIPKF | LTEVLLPIVK | TEFQLLYVYH | LVGPFLQRFQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QERTRCMIEI | GVAFYDMLLN | VDQCSTHLNY | MDPICDFLYH | MKYMFTGDSV | KEQVEKIICN |
| 1330 | 1340 | 1350 | 1360 | ||
| LKPALKLRLR | FITHISKMEP | AAVPPQAMNS | GSPAPQSNQV | PVSLPVTQ |