Q8N6C5
Gene name |
IGSF1 (IGDC1, KIAA0364, PGSF2) |
Protein name |
Immunoglobulin superfamily member 1 |
Names |
IgSF1, Immunoglobulin-like domain-containing protein 1, Inhibin-binding protein, InhBP, Pituitary gland-specific factor 2, p120 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3547 |
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 Q8N6C5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N6C5-F1 | Predicted | AlphaFoldDB |
762 variants for Q8N6C5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_054960 CA10518062 RCV002479006 RCV000884351 rs6637826 |
381 | N>H | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000033076 rs1556181091 |
708 | A>missing | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_069268 | 708 | A>del | CHTE; impairs IGSF1 trafficking to the plasma membrane [UniProt] | Yes | UniProt |
|
RCV000033078 rs398122920 |
745 | E>missing | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603404421 RCV000850405 |
757 | R>missing | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_069269 | 765 | S>N | CHTE; impairs IGSF1 trafficking to the plasma membrane [UniProt] | Yes | UniProt |
|
rs1603404413 CA414563078 RCV000850406 |
768 | L>P | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603404297 RCV000995567 |
803 | H>missing | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_069270 CA130644 rs397514622 RCV000033079 |
858 | S>F | X-linked central congenital hypothyroidism with late-onset testicular enlargement CHTE; impairs IGSF1 trafficking to the plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_069271 | 942 | C>R | CHTE; impairs IGSF1 trafficking to the plasma membrane [UniProt] | Yes | UniProt |
|
rs398122919 CA130641 RCV000033077 |
972 | W>* | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001751656 rs1220996970 RCV001335742 CA414556934 |
1184 | R>* | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs398122921 RCV000033080 |
1195 | E>missing | X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10518296 COSM1145550 rs745905665 |
2 | T>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 3 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293470884 CA414587985 |
3 | L>P | No |
ClinGen gnomAD |
|
|
CA10518294 rs757400547 |
4 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10518295 rs781464475 |
4 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414587881 rs1439882679 |
8 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM3720253 COSM3720254 rs1439882679 CA414587887 |
8 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs758722982 CA10518291 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753072958 CA10518290 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765682114 CA10518289 |
11 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10518288 rs755509233 |
17 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1395304061 CA414587672 |
18 | V>G | No |
ClinGen gnomAD |
|
|
CA10518286 rs765959488 |
20 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA335116593 rs760227945 |
21 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10518284 rs772979754 |
22 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335116581 rs929412430 |
23 | I>V | No |
ClinGen TOPMed gnomAD |
|
| rs1182900802 | 24 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767093474 COSM1465660 COSM1465661 CA10518283 |
24 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1419075113 CA414587415 |
25 | M>I | No |
ClinGen gnomAD |
|
|
CA414587392 rs1249022422 |
27 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1190218407 CA414587379 |
28 | G>D | No |
ClinGen gnomAD |
|
|
CA10518268 rs765797989 |
30 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369648621 CA10518267 |
31 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369648621 CA335116401 |
31 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA335116010 rs375472462 |
33 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA414587090 rs1349637754 |
36 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA414587087 rs1349637754 |
36 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10518249 rs200514048 |
38 | P>L | Variant assessed as Somatic; 0.0007149 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780619043 CA10518247 |
43 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs183437257 CA335115975 |
45 | N>S | No |
ClinGen 1000Genomes |
|
|
rs756957769 CA10518246 |
48 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10518245 rs371848902 |
50 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10518244 rs143455309 |
51 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414586711 rs1469708154 |
51 | W>L | No |
ClinGen TOPMed |
|
|
CA10518243 rs375352320 |
53 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10518242 rs752456761 |
54 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA10518241 rs141414558 |
55 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297768369 CA414586544 |
59 | R>Q | No |
ClinGen TOPMed |
|
|
CA335115907 rs1003272470 |
60 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414586502 rs773319089 |
61 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773319089 CA10518239 |
61 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751377228 CA414586477 |
63 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768875327 CA10518235 |
63 | R>L | No |
ClinGen ExAC TOPMed |
|
|
rs768875327 CA414586471 |
63 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA10518236 rs751377228 |
63 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10518234 rs749629305 |
64 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs373968818 CA10518233 |
66 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414586397 rs373968818 |
66 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414586346 rs1192783121 |
70 | L>R | No |
ClinGen gnomAD |
|
|
rs780847353 CA10518229 |
81 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10518228 rs756761325 |
81 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10518227 rs751129489 |
82 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763878337 CA10518226 |
83 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414586025 rs1201838011 |
86 | T>P | No |
ClinGen TOPMed |
|
|
CA335115833 rs762688728 |
88 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA414585964 rs1480751754 |
89 | V>L | No |
ClinGen TOPMed |
|
|
CA414585884 rs1427607014 |
92 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10518221 rs754926935 |
92 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10518220 rs753783718 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs866336304 CA335115822 |
97 | T>I | No |
ClinGen Ensembl |
|
|
rs766304273 CA10518219 |
99 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA335115819 rs1005228089 |
99 | S>F | No |
ClinGen TOPMed |
|
|
rs766304273 CA414585713 |
99 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10518218 rs190917856 |
100 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414585607 rs1381739219 |
102 | G>V | No |
ClinGen gnomAD |
|
|
CA10518217 rs199926984 |
103 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146648451 CA10518214 COSM1743549 COSM1743550 |
105 | R>Q | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs763136637 CA10518215 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779673932 CA335115804 |
109 | W>C | No |
ClinGen Ensembl |
|
|
CA335115803 rs769371548 |
110 | K>N | No |
ClinGen gnomAD |
|
|
CA10518213 rs770125038 |
115 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA414585213 rs1439434639 |
118 | S>N | No |
ClinGen gnomAD |
|
|
rs746250601 CA10518212 |
119 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777220457 CA10518211 |
120 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs200156640 CA10518209 |
122 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA335115754 rs923537326 |
125 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1445006479 CA414585070 |
126 | P>R | No |
ClinGen gnomAD |
|
|
CA414585065 rs1283781974 |
127 | G>R | No |
ClinGen TOPMed |
|
|
rs915465798 CA335115584 |
130 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1279456745 CA414584759 |
138 | A>S | No |
ClinGen gnomAD |
|
|
rs763233730 CA10518197 |
139 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1181812278 CA414584674 |
141 | P>T | No |
ClinGen TOPMed |
|
|
CA10518195 rs765510592 |
142 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1715554 CA10518193 COSM1715553 rs777165320 |
143 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1402207892 CA414584493 |
148 | V>G | No |
ClinGen gnomAD |
|
|
CA10518191 rs747566394 |
148 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335115541 rs1050418303 |
150 | I>V | No |
ClinGen Ensembl |
|
|
rs1158369766 CA414584401 |
151 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs771545719 CA10518189 |
153 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA414584135 rs778853861 |
162 | M>L | No |
ClinGen gnomAD |
|
|
rs778853861 CA335115496 |
162 | M>V | No |
ClinGen gnomAD |
|
|
rs201255931 CA10518185 |
166 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414584044 rs1343972357 |
167 | G>R | No |
ClinGen gnomAD |
|
|
CA335115481 rs928177508 |
167 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779056528 CA414583981 |
170 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750429785 CA10518181 |
172 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10518179 rs758353807 |
177 | P>L | No |
ClinGen ExAC |
|
|
rs752845463 CA10518178 |
178 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381471947 CA414583813 |
182 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA414583802 rs1227057524 |
182 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414583780 rs1377310406 |
184 | F>L | No |
ClinGen gnomAD |
|
|
rs765338440 CA10518177 |
186 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA414583745 rs1431699831 |
186 | I>T | No |
ClinGen gnomAD |
|
|
CA10518174 rs766906335 |
193 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761258246 CA10518173 |
194 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10518172 rs745841814 |
195 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10518171 rs772643100 |
196 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969511654 CA335115405 |
198 | I>M | No |
ClinGen TOPMed |
|
|
CA414583485 rs1247807769 |
200 | R>C | No |
ClinGen gnomAD |
|
|
COSM3424467 CA10518169 rs149790689 COSM3424466 |
200 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 203 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569406632 CA414583390 |
204 | Q>L | No |
ClinGen Ensembl |
|
|
rs749000372 CA10518167 |
212 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320029504 CA414583174 |
213 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1215390600 CA414583118 |
215 | N>H | No |
ClinGen gnomAD |
|
|
CA10518164 rs745677211 |
215 | N>I | No |
ClinGen ExAC |
|
|
rs1296683553 CA414583062 |
218 | K>T | No |
ClinGen gnomAD |
|
|
CA414583015 rs1432617923 |
220 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751466837 CA335115348 |
222 | A>E | No |
ClinGen 1000Genomes |
|
|
rs1196700319 CA414580436 |
224 | L>P | No |
ClinGen TOPMed |
|
|
CA10518129 rs764840232 |
226 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA414580377 rs1376537341 |
226 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 227 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414580285 rs776274590 |
229 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776274590 CA10518127 |
229 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs770826537 CA10518126 |
233 | H>L | No |
ClinGen ExAC gnomAD |
|
|
COSM320951 CA414580223 rs1478073941 |
233 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10518125 rs772153736 |
237 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414580115 rs1375670087 |
238 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749338883 CA10518122 |
241 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414579917 rs1464839286 |
244 | L>M | No |
ClinGen gnomAD |
|
|
rs1160500683 CA414579886 |
245 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943994517 CA335114365 |
247 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs746170859 CA414579759 |
250 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs746170859 CA10518119 |
250 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA414579775 rs1190149101 |
250 | G>R | No |
ClinGen gnomAD |
|
|
CA414579750 rs1255713666 |
251 | P>L | No |
ClinGen gnomAD |
|
|
CA335114362 rs758967962 |
252 | I>N | No |
ClinGen TOPMed |
|
|
rs201801732 CA10518118 |
253 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1262217637 CA414579529 |
260 | M>R | No |
ClinGen gnomAD |
|
|
CA335114349 rs868522864 |
261 | R>K | No |
ClinGen Ensembl |
|
|
CA10518116 rs751892734 |
261 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA10518115 rs764545853 |
265 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202066467 CA10518114 |
266 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202066467 CA414579372 |
266 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341685207 CA414579224 |
270 | Y>C | No |
ClinGen TOPMed |
|
|
CA414579254 rs1268563550 |
270 | Y>H | No |
ClinGen TOPMed |
|
|
CA414579208 rs1333058167 |
271 | H>Y | No |
ClinGen gnomAD |
|
|
CA10518113 rs752182033 |
272 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414579094 rs1289751010 |
273 | K>N | No |
ClinGen gnomAD |
|
|
rs764784530 CA10518112 |
273 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414578974 rs1270674855 COSM1715546 |
278 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 279 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10518109 rs776279784 |
290 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185721929 CA414578582 |
291 | T>S | No |
ClinGen gnomAD |
|
|
rs138781536 CA10518108 |
292 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs113622982 CA335114307 |
294 | Y>C | No |
ClinGen Ensembl |
|
|
CA10518107 rs369311333 |
295 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10518106 rs773168536 |
298 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215064968 CA414578135 COSM203884 |
301 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA414578082 rs1356474070 |
303 | Y>H | No |
ClinGen gnomAD |
|
|
CA10518103 rs775710400 |
304 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335114291 rs867919349 |
306 | S>* | No |
ClinGen Ensembl |
|
|
CA10518102 rs769930908 |
307 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144062892 CA335114288 |
310 | D>N | No |
ClinGen ESP |
|
|
CA10518101 rs149475767 |
310 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10518100 rs754603948 |
311 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414577786 rs1392369264 |
311 | V>L | No |
ClinGen TOPMed |
|
|
rs771089863 CA10518099 |
312 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1293370051 CA414577740 |
313 | K>Q | No |
ClinGen TOPMed |
|
|
CA10518098 rs747371029 |
316 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10518096 rs758891811 |
318 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA414577392 rs1322716100 |
319 | T>S | No |
ClinGen TOPMed |
|
|
CA414577303 rs1274876991 |
322 | K>E | No |
ClinGen gnomAD |
|
|
COSM3424465 rs1395708564 CA414577282 |
322 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs181816563 CA10518086 |
323 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA335114121 rs1008082168 CA414577236 |
324 | W>C | No |
ClinGen gnomAD |
|
|
CA414577253 rs1306013049 |
324 | W>R | No |
ClinGen gnomAD |
|
|
rs892393996 CA335114117 |
325 | L>V | No |
ClinGen Ensembl |
|
|
rs1331024134 CA414577226 |
326 | L>V | No |
ClinGen gnomAD |
|
|
rs140255239 CA10518084 |
328 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10518085 rs761707873 |
328 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10518082 rs759622314 COSM755340 |
329 | P>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3735799 CA10518083 rs759622314 |
329 | P>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776614400 CA10518081 |
331 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771164082 CA10518080 |
332 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747255088 CA10518079 |
335 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA414577005 rs1478349545 |
335 | M>V | No |
ClinGen gnomAD |
|
|
rs767952076 CA10518078 |
336 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1327800070 CA414576941 |
338 | N>S | No |
ClinGen TOPMed |
|
|
CA335114090 rs762377015 |
339 | V>A | No |
ClinGen 1000Genomes |
|
|
rs1439079344 CA414576922 |
339 | V>M | No |
ClinGen gnomAD |
|
|
CA10518076 rs748526007 |
342 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10518077 rs751927434 |
342 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10518075 rs779343891 |
343 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA414576830 COSM3405971 rs1412267674 |
344 | R>* | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA335114071 rs755467440 |
344 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755467440 CA10518074 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414576817 rs1334483462 |
345 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs914468962 CA335114069 |
345 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10518073 rs767443066 |
347 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335114068 rs764461220 |
350 | V>M | No |
ClinGen 1000Genomes |
|
|
rs1328632181 CA414576653 |
353 | A>T | No |
ClinGen gnomAD |
|
|
rs369062707 CA10518072 |
355 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414576610 rs1351208091 |
355 | Y>H | No |
ClinGen gnomAD |
|
|
rs1408307982 CA414576571 |
356 | K>N | No |
ClinGen gnomAD |
|
|
CA414576532 rs1377489634 |
358 | G>A | No |
ClinGen gnomAD |
|
|
rs1180581218 CA414576542 |
358 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 359 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414576432 rs1414794386 |
362 | P>Q | No |
ClinGen gnomAD |
|
|
CA335114067 rs762906079 |
362 | P>S | No |
ClinGen gnomAD |
|
|
rs1411859861 CA414576414 |
363 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904570078 CA335114054 |
369 | T>S | No |
ClinGen TOPMed |
|
|
CA10518069 rs767294541 |
370 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751436069 COSM1115258 CA10518067 |
372 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 376 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770981515 CA10518063 |
377 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs773364771 CA10518061 |
382 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10518060 rs772303572 |
383 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA414575685 rs1357647356 |
388 | G>R | No |
ClinGen gnomAD |
|
|
rs1349767206 CA414575625 |
390 | Y>C | No |
ClinGen TOPMed |
|
|
CA10518059 rs774615733 |
391 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10518058 rs774615733 |
391 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA414575569 rs1358380900 |
392 | C>R | No |
ClinGen gnomAD |
|
|
CA10518057 rs769182040 |
393 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10518055 rs780617557 COSM1490492 |
394 | Y>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
RCV001701274 RCV000971987 CA10518054 rs139140137 |
395 | L>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10518053 rs369509121 |
397 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 399 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 400 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182106275 CA414575301 |
401 | S>P | No |
ClinGen gnomAD |
|
|
rs771966629 CA10518052 |
403 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 404 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414575231 rs1309967132 |
404 | M>T | No |
ClinGen TOPMed |
|
|
rs757010783 CA10518051 |
404 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210956732 CA414575208 |
405 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1210956732 CA414575215 |
405 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs868840173 CA335113958 |
406 | S>P | No |
ClinGen gnomAD |
|
|
rs1207343480 CA414574936 |
413 | M>T | No |
ClinGen gnomAD |
|
|
rs1203453414 CA414574909 |
414 | V>A | No |
ClinGen TOPMed |
|
|
rs113833695 CA335113670 |
416 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 416 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770459163 CA414574636 |
418 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10518035 rs770459163 |
418 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs745344236 CA10518034 |
420 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA335113665 rs894576605 |
421 | P>R | No |
ClinGen Ensembl |
|
|
rs201278195 CA335113655 |
425 | A>V | No |
ClinGen Ensembl |
|
|
rs372021690 CA10518033 |
427 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201861108 CA10518032 |
428 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192621234 CA335113638 |
436 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA10518030 rs200121799 |
437 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 437 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335113620 rs908754045 |
439 | L>I | No |
ClinGen Ensembl |
|
|
CA414574246 rs1369636839 |
441 | C>G | No |
ClinGen gnomAD |
|
|
rs1293658262 RCV000578855 CA414574233 |
442 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA10518027 rs765044401 |
442 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10518028 rs765044401 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414574227 rs1347572763 |
443 | V>I | No |
ClinGen gnomAD |
|
|
rs754943880 CA10518026 |
445 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1128617 CA414574130 CA414574135 |
449 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10518022 rs774381576 |
457 | R>G | No |
ClinGen ExAC TOPMed |
|
|
CA414573968 rs1487562637 |
457 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414573976 rs1487562637 |
457 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1254005767 CA414573892 |
460 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA335113559 rs1128618 |
462 | K>R | No |
ClinGen Ensembl |
|
|
rs371729575 CA10518021 |
464 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367797060 CA10518020 |
465 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 467 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10518019 rs775966979 |
467 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs1313920613 CA414573751 |
468 | D>E | No |
ClinGen gnomAD |
|
|
rs770402126 CA10518018 |
468 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414573665 rs1386098698 |
474 | V>I | No |
ClinGen gnomAD |
|
|
CA10518015 rs376073918 |
477 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10518013 rs777240453 |
487 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603405214 CA414573453 |
487 | R>S | No |
ClinGen Ensembl |
|
|
CA10518010 rs778724410 COSM1210383 |
488 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778724410 CA10518011 |
488 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754893577 CA10518009 |
490 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414573388 rs1176000558 |
491 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431884253 CA414573361 |
493 | N>S | No |
ClinGen gnomAD |
|
|
rs1128619 CA335113484 |
494 | I>M | No |
ClinGen Ensembl |
|
|
rs1443269466 CA414573346 |
494 | I>T | No |
ClinGen TOPMed |
|
|
rs1438315337 CA414573312 |
496 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 496 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200210980 CA10518006 |
498 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10518007 rs200210980 |
498 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10518004 rs751695248 |
498 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs200210980 CA10518005 |
498 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159295558 CA414573265 |
499 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA414573248 rs1181405322 |
500 | E>K | No |
ClinGen TOPMed |
|
|
CA414573222 rs1249853563 |
501 | P>L | No |
ClinGen gnomAD |
|
|
rs1401870775 CA414573209 |
503 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1202356678 CA414573142 |
507 | P>L | No |
ClinGen gnomAD |
|
|
rs764195808 COSM1115246 CA10518003 |
508 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10517988 rs779930437 |
510 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA10517989 rs749105735 |
510 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10517987 rs756120260 |
511 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10517985 rs370349619 |
516 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414572889 rs370349619 |
516 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414572875 rs1340693049 |
517 | L>P | No |
ClinGen gnomAD |
|
|
rs758546152 CA10517984 |
520 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517983 rs752901848 |
520 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs145291097 CA10517982 |
522 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208016936 CA414572562 |
527 | M>T | No |
ClinGen TOPMed |
|
|
CA10517979 rs375801342 |
527 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414572221 rs1283637501 |
540 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139821381 CA414572108 |
544 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10517974 rs773933133 |
544 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10517975 rs139821381 COSM1465656 |
544 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1569404440 CA414572050 |
546 | L>V | No |
ClinGen Ensembl |
|
| rs1442573761 | 548 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249608280 CA414571998 |
549 | R>G | No |
ClinGen gnomAD |
|
|
rs766824998 CA10517959 |
552 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 556 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517958 rs200369168 |
556 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10517957 rs750874639 |
560 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1286076796 CA414568991 |
561 | T>I | No |
ClinGen TOPMed |
|
|
CA414568955 rs1348743504 |
563 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 565 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1115242 CA414568852 rs1223457139 |
567 | T>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1354161692 CA414568820 |
568 | A>G | No |
ClinGen TOPMed |
|
|
rs761349007 CA10517955 COSM3939790 |
568 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA414568804 rs1277147662 COSM3424464 |
569 | L>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA335111166 rs904759676 |
571 | C>R | No |
ClinGen TOPMed |
|
|
CA10517926 rs139829301 |
574 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746222242 CA10517922 |
579 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs757757701 CA10517920 |
580 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA414568077 rs757757701 |
580 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10517921 rs781468304 |
580 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA335110917 rs371669632 |
581 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1394884588 CA414568059 |
581 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752001266 CA10517919 |
582 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174838554 CA414567978 |
582 | E>Q | No |
ClinGen TOPMed |
|
|
CA414567927 rs1409450649 |
583 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 584 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414567631 rs1288779468 |
586 | V>I | No |
ClinGen TOPMed |
|
|
CA10517898 rs374714621 |
587 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10517897 rs778342386 |
591 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517894 rs766142659 |
593 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754650052 CA10517896 |
593 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517893 rs755922399 |
596 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 599 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517892 rs146462069 |
599 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10517891 RCV000959993 RCV001700952 rs146462069 |
599 | N>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 601 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335110667 rs370590879 |
602 | L>R | No |
ClinGen ESP TOPMed |
|
|
CA414566975 rs1418858818 |
603 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 606 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414566743 rs970911777 |
610 | L>I | No |
ClinGen TOPMed |
|
|
CA335110655 rs970911777 |
610 | L>V | No |
ClinGen TOPMed |
|
|
rs759679565 CA10517887 |
615 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776789329 CA10517886 |
616 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 619 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 620 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 621 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414566171 rs1165068859 |
624 | L>F | No |
ClinGen gnomAD |
|
|
CA10517885 rs771177124 |
629 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747346183 CA10517884 |
630 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773612303 CA10517883 |
632 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1026938508 CA335110632 |
633 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 635 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484266981 CA414565748 |
635 | R>G | No |
ClinGen TOPMed |
|
|
rs748665765 CA10517881 |
635 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1489517476 CA414565723 |
636 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1185245635 CA414565735 |
636 | P>T | No |
ClinGen gnomAD |
|
|
rs1182523055 CA414565686 |
637 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10517879 rs753648014 |
638 | S>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs748852584 CA10517878 |
639 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755869313 CA10517876 |
640 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767488797 CA10517874 |
641 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10517875 rs766222070 |
641 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414565519 rs1452430983 |
642 | R>Q | No |
ClinGen TOPMed |
|
|
rs1294812060 CA414565533 |
642 | R>W | No |
ClinGen gnomAD |
|
|
rs757080190 CA10517873 |
643 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 647 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293600466 CA414565305 |
649 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10517870 rs759498373 |
651 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA414565219 rs1310281983 |
652 | Q>H | No |
ClinGen gnomAD |
|
|
CA10517869 rs372420485 |
652 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414564862 rs1435353920 |
666 | M>I | No |
ClinGen gnomAD |
|
|
rs1426048283 CA414564808 |
668 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs906064488 CA335110562 |
670 | E>D | No |
ClinGen TOPMed |
|
|
rs1015854997 CA414564678 |
676 | E>K | No |
ClinGen TOPMed |
|
|
rs1015854997 CA335110557 |
676 | E>Q | No |
ClinGen TOPMed |
|
|
CA10517864 rs748558414 |
679 | G>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 681 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517852 rs758413837 |
685 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10517851 rs753898757 |
690 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760743858 CA10517849 |
693 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1263711428 CA414564317 |
695 | R>W | No |
ClinGen gnomAD |
|
|
CA10517847 rs372128043 |
702 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750582498 CA10517848 |
702 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA414564137 rs1269403296 |
705 | G>A | No |
ClinGen gnomAD |
|
|
CA414564084 rs1158466408 |
708 | A>V | No |
ClinGen TOPMed |
|
|
rs997427363 CA335110376 |
709 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10517846 rs762042750 |
710 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517844 rs146715796 |
711 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414564045 CA10517845 rs774817393 |
711 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs146715796 CA414564041 |
711 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1398125590 CA414564004 |
713 | A>V | No |
ClinGen gnomAD |
|
|
CA10517843 rs763623896 |
714 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1371501317 CA414563921 |
717 | E>D | No |
ClinGen TOPMed |
|
|
CA10517841 rs769371368 |
718 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA414563864 rs1390931621 |
721 | E>K | No |
ClinGen gnomAD |
|
|
CA414563834 rs1159996291 |
722 | P>S | No |
ClinGen gnomAD |
|
|
CA10517840 rs745394994 |
724 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10517839 rs780672123 |
727 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780672123 CA414563744 |
727 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1460243890 CA414563706 |
731 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 736 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414563616 rs1167129179 |
737 | I>M | No |
ClinGen gnomAD |
|
|
rs746760627 CA10517837 |
738 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10517836 rs750305360 |
738 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758261526 CA10517835 |
740 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414563543 rs373713899 |
741 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778830663 CA10517833 |
745 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1205186348 CA414563383 |
749 | S>R | No |
ClinGen gnomAD |
|
|
CA414563346 rs1349561128 |
751 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349561128 CA414563350 |
751 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 752 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756135266 CA10517832 |
755 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 756 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750533250 CA10517831 |
757 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1128620 CA335110328 |
757 | R>H | No |
ClinGen Ensembl |
|
|
rs1128620 CA335110326 |
757 | R>L | No |
ClinGen Ensembl |
|
|
rs767602109 CA10517830 |
759 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA414563188 rs1473217673 |
763 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762143558 CA10517829 |
767 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414563086 rs1451184857 |
768 | L>M | No |
ClinGen gnomAD |
|
| VAR_076256 | 774 | E>G | No | UniProt | |
| TCGA novel | 774 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 775 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414562833 rs1271307306 |
777 | P>L | No |
ClinGen gnomAD |
|
|
CA414562793 rs1227263678 |
780 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 782 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414562754 rs1324764715 |
783 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA335110113 rs12393480 |
786 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 787 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517806 rs751748646 |
788 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365161816 CA414562685 |
790 | T>N | No |
ClinGen gnomAD |
|
|
rs1419054927 CA414562664 |
792 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 794 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298201857 CA414562646 |
794 | R>Q | No |
ClinGen TOPMed |
|
|
rs764245106 CA10517805 |
795 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA414562560 rs1302357666 |
803 | H>N | No |
ClinGen gnomAD |
|
|
CA10517804 rs758796307 |
803 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753155514 CA10517803 |
805 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA10517802 rs369042210 |
805 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10517801 rs781166601 |
806 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 810 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 818 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311567632 CA414562348 |
821 | D>N | No |
ClinGen TOPMed |
|
|
rs1274068517 CA414562341 |
822 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 823 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414562316 rs1340742330 |
825 | A>G | No |
ClinGen TOPMed |
|
|
rs1195791420 CA414562320 |
825 | A>S | No |
ClinGen gnomAD |
|
|
rs376887010 CA10517798 |
827 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771739503 CA10517796 |
828 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747906302 CA10517795 |
829 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603404281 CA414562287 |
830 | S>T | No |
ClinGen Ensembl |
|
|
rs751345380 CA10517793 |
832 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1337317370 CA414562241 |
835 | L>P | No |
ClinGen gnomAD |
|
|
rs267606355 COSM1115228 CA335110073 |
838 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA414562194 rs1288186108 |
839 | V>M | No |
ClinGen TOPMed |
|
|
rs1469887000 CA414562158 |
841 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs923034176 CA335110067 |
841 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10517791 rs779870876 |
845 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747091505 TCGA novel CA10517789 |
848 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs778114359 CA10517788 |
848 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs374589007 CA335110065 |
850 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10517786 rs753100283 |
852 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414561929 rs1164339199 |
852 | Y>F | No |
ClinGen gnomAD |
|
|
rs755298160 CA10517784 |
853 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 854 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517782 rs766815289 |
856 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754309168 CA10517783 |
856 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414561786 rs1438942639 |
857 | W>C | No |
ClinGen TOPMed |
|
|
CA414561762 rs397514622 |
858 | S>C | No |
ClinGen gnomAD |
|
|
CA10517780 rs772636261 |
862 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414561602 rs1441246420 |
864 | V>L | No |
ClinGen gnomAD |
|
|
rs1338637254 CA414561550 |
867 | V>M | No |
ClinGen gnomAD |
|
|
rs761511959 CA10517778 |
869 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414561333 rs1409444644 |
873 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 877 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 882 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414561145 rs1432321471 |
883 | P>R | No |
ClinGen gnomAD |
|
|
CA10517766 rs755317132 |
888 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398531035 CA414561063 |
890 | S>C | No |
ClinGen gnomAD |
|
|
rs1387551405 CA414561055 |
890 | S>R | No |
ClinGen gnomAD |
|
|
rs780576446 CA10517764 |
893 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10517763 rs756627364 |
894 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs140707734 CA10517762 COSM1254670 |
894 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10517760 rs187480172 |
903 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213997860 CA414560864 |
904 | F>I | No |
ClinGen gnomAD |
|
|
COSM1115226 rs763768928 CA10517758 |
905 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10517757 rs762779514 |
906 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs866816579 CA335109791 |
910 | G>E | No |
ClinGen Ensembl |
|
|
rs1312865529 CA414560774 COSM1176704 |
911 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA414560755 rs1362052740 |
913 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 914 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 915 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517753 rs758619704 |
918 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3843578 CA10517754 rs201712796 |
918 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 923 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335109771 rs1006199157 COSM1490491 |
925 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA414560611 rs1311184044 |
926 | D>N | No |
ClinGen TOPMed |
|
|
rs748257227 CA10517751 |
929 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs866415492 CA335109758 |
930 | H>Y | No |
ClinGen Ensembl |
|
|
CA414560528 rs1203919457 |
931 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 931 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1715540 CA10517749 rs745979788 |
933 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA335109751 rs1029188801 |
934 | A>T | No |
ClinGen TOPMed |
|
|
rs780338952 CA10517747 |
944 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10517745 rs750861873 |
949 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA414560314 rs750861873 |
949 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1405651466 CA414560299 |
950 | S>* | No |
ClinGen Ensembl |
|
|
rs201754584 CA10517743 |
956 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA414560213 rs1603404074 |
958 | M>I | No |
ClinGen Ensembl |
|
|
CA414560205 rs1346805502 |
959 | P>S | No |
ClinGen gnomAD |
|
|
CA10517741 rs201109191 |
961 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs752534920 CA10517739 |
965 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414559996 rs1344852527 |
967 | T>I | No |
ClinGen TOPMed |
|
|
rs1453737391 CA414559980 |
968 | F>L | No |
ClinGen gnomAD |
|
|
rs757935035 CA10517723 |
969 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603404024 CA414559943 |
971 | P>T | No |
ClinGen Ensembl |
|
|
rs764960641 CA10517721 |
977 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414559832 rs1217645183 |
978 | S>G | No |
ClinGen TOPMed |
|
|
CA10517720 rs147496468 RCV000970028 |
980 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 980 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335109634 rs909251856 |
981 | V>I | No |
ClinGen TOPMed |
|
|
CA10517719 rs753723939 |
983 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1569401438 CA414559780 |
983 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10517718 rs766393352 |
985 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA414559750 rs1208470763 |
985 | Q>R | No |
ClinGen TOPMed |
|
|
CA414559730 rs1289763335 |
987 | V>I | No |
ClinGen TOPMed |
|
|
rs200267796 CA10517716 |
994 | P>L | Variant assessed as Somatic; 0.0007497 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414559601 rs1394841302 |
997 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763164584 CA10517714 |
998 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 999 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517712 CA10517713 rs770044215 |
1003 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1192692070 CA414559518 |
1003 | H>Y | No |
ClinGen gnomAD |
|
|
rs746212087 CA10517711 |
1004 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517710 rs777039530 |
1006 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775706281 CA10517708 |
1007 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150244250 CA10517706 |
1008 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485520018 CA414559406 |
1011 | M>V | No |
ClinGen gnomAD |
|
|
rs182687001 CA10517704 |
1015 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778395460 CA10517703 |
1016 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1017 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1020 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517701 rs753669090 |
1025 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1289682949 CA414559142 |
1030 | G>S | No |
ClinGen gnomAD |
|
|
CA10517699 rs755975632 |
1033 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA10517698 rs750269789 COSM203882 |
1035 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10517697 COSM487963 rs141065877 |
1035 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA414558977 rs1385817442 |
1041 | H>Y | No |
ClinGen gnomAD |
|
|
CA414558938 rs1182855463 |
1043 | D>E | No |
ClinGen gnomAD |
|
|
CA10517696 rs762911152 |
1048 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440206550 CA414558871 |
1048 | I>V | No |
ClinGen gnomAD |
|
|
rs1243002984 CA414558774 |
1054 | N>S | No |
ClinGen TOPMed |
|
|
CA10517694 rs369663225 |
1055 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414558694 rs1360710987 |
1060 | V>A | No |
ClinGen TOPMed |
|
|
CA414558701 rs1225151436 COSM3722148 |
1060 | V>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1248821027 CA414558687 |
1061 | T>A | No |
ClinGen TOPMed |
|
|
rs776847089 CA10517692 |
1061 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322638814 CA414558581 |
1064 | L>F | No |
ClinGen gnomAD |
|
|
rs773671009 CA10517671 |
1066 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA335109450 rs773671009 |
1066 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10517670 rs772442264 |
1068 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA414558518 rs1168386155 |
1069 | L>V | No |
ClinGen gnomAD |
|
|
CA10517669 rs368781680 |
1073 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151092429 CA10517668 |
1075 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000881834 CA10517667 rs145402054 RCV001700331 |
1076 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1480558695 CA414558473 |
1076 | M>T | No |
ClinGen gnomAD |
|
|
rs1197157665 CA414558463 |
1078 | A>T | No |
ClinGen gnomAD |
|
|
rs748829433 CA10517666 |
1079 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1719122 CA10517664 rs769535778 |
1081 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10517663 rs745638955 |
1089 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866536788 CA335109414 |
1090 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 1093 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414557550 rs1224417790 |
1095 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1274069411 CA414557539 |
1097 | V>F | No |
ClinGen gnomAD |
|
|
CA10517660 rs751459717 |
1103 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414557476 rs1462195294 |
1106 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10517659 rs375099908 |
1106 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372604390 CA335109383 |
1108 | E>A | No |
ClinGen Ensembl |
|
|
CA10517658 rs755015246 |
1111 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1114 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414557411 rs1397586052 |
1116 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1116 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753954641 CA10517657 |
1123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA335109370 rs909743754 |
1126 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs143211470 RCV000958371 CA10517656 |
1126 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414557337 rs909743754 |
1126 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1471368746 CA414557324 |
1128 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1128 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1128 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762232691 CA335109366 |
1135 | V>A | No |
ClinGen Ensembl |
|
|
rs750746517 CA10517654 |
1139 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs767853834 CA414557238 |
1140 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10517653 rs767853834 |
1140 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1141 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1142 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414557224 rs1204353538 |
1143 | F>L | No |
ClinGen gnomAD |
|
|
CA10517652 rs762097558 |
1145 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276800895 CA414557195 |
1147 | N>I | No |
ClinGen gnomAD |
|
|
CA335109349 rs267606354 |
1148 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1225628087 CA414557159 |
1152 | L>R | No |
ClinGen gnomAD |
|
|
rs774949449 CA10517651 |
1153 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414557133 rs1279922428 |
1156 | V>M | No |
ClinGen gnomAD |
|
|
rs1215664752 CA414557104 |
1158 | D>E | No |
ClinGen gnomAD |
|
|
CA335109266 rs267606353 |
1167 | A>P | No |
ClinGen Ensembl |
|
|
CA335109259 rs201123183 |
1167 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1169 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764685434 CA10517630 |
1172 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1176 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517628 CA414556988 rs776147631 |
1176 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1178 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249769905 CA414556974 |
1178 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1432519366 CA414556970 |
1178 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200127298 CA10517626 |
1180 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200127298 CA10517625 |
1180 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200127298 CA10517627 |
1180 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414556943 rs1418279305 |
1183 | C>R | No |
ClinGen gnomAD |
|
|
rs146525641 CA10517624 |
1184 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10517623 rs746780456 |
1185 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1188 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1195 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745964986 CA10517617 |
1196 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517618 rs745964986 |
1196 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517616 rs376897895 |
1197 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376260455 CA10517615 |
1200 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414556766 rs1330005520 |
1201 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs758849300 CA10517613 |
1202 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs753208618 CA10517611 |
1202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758849300 CA10517614 |
1202 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758849300 CA10517612 |
1202 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10517610 rs765697743 |
1206 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1210 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414556640 rs1424622487 |
1213 | I>F | No |
ClinGen TOPMed |
|
|
rs989494756 CA335109194 |
1214 | N>K | No |
ClinGen Ensembl |
|
|
CA10517608 rs753341895 |
1216 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759059710 CA10517609 |
1216 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517607 rs766037546 |
1220 | G>S | No |
ClinGen ExAC |
|
|
CA16621200 rs1064796725 RCV000484945 |
1221 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs868050867 CA335109167 |
1222 | G>R | No |
ClinGen Ensembl |
|
|
CA414556531 rs1347860037 |
1225 | S>N | No |
ClinGen gnomAD |
|
|
rs1398271819 CA414556515 |
1227 | S>N | No |
ClinGen TOPMed |
|
|
CA10517606 rs760383828 |
1229 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772852471 CA10517605 |
1229 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1230 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414556492 rs1362988617 |
1231 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1234 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173099609 CA414556464 |
1235 | D>H | No |
ClinGen gnomAD |
|
|
rs1214880801 CA414556424 |
1240 | P>S | No |
ClinGen TOPMed |
|
|
CA335109155 rs771794539 |
1243 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517604 rs771794539 |
1243 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414556382 rs1270840963 |
1247 | V>M | No |
ClinGen gnomAD |
|
|
CA10517601 rs148685541 |
1249 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745938115 CA10517600 |
1250 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414556340 rs1237089742 |
1252 | P>S | No |
ClinGen gnomAD |
|
|
rs767189919 CA10517585 |
1254 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256237348 CA414556314 |
1256 | E>A | No |
ClinGen gnomAD |
|
|
CA335109014 rs982190685 |
1258 | T>A | No |
ClinGen TOPMed |
|
|
CA414556298 rs1197383002 |
1258 | T>S | No |
ClinGen TOPMed |
|
|
CA10517583 rs751440159 |
1259 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1262 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176829403 CA414556274 |
1262 | I>T | No |
ClinGen TOPMed |
|
|
rs1309588455 CA414556263 COSM327449 |
1264 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA414556260 rs1408040076 |
1264 | R>L | No |
ClinGen TOPMed |
|
|
CA414556262 rs1408040076 COSM1115210 |
1264 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs775509128 CA10517580 COSM1115206 |
1269 | V>M | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA414556201 rs1454670635 |
1271 | V>F | No |
ClinGen gnomAD |
|
|
CA414556193 rs1302490525 |
1272 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1274 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747114674 CA10517578 CA414556158 |
1275 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335108986 rs989058478 |
1275 | L>S | No |
ClinGen gnomAD |
|
|
CA10517576 rs772469320 CA414556154 |
1276 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772469320 CA10517577 |
1276 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517575 rs748527825 |
1277 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274259755 CA414556131 |
1278 | V>A | No |
ClinGen TOPMed |
|
|
CA414556103 rs1440068412 |
1281 | I>T | No |
ClinGen TOPMed |
|
|
CA10517572 rs149959109 |
1282 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414556040 rs1490548625 |
1286 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1287 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517571 rs749703068 |
1288 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10517570 rs780562961 |
1288 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10517569 rs757697792 |
1289 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749977306 CA10517568 |
1290 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs749977306 CA414555998 |
1290 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs139121215 CA10517567 |
1290 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10517554 rs749695524 |
1292 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1293 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263435618 CA414555935 |
1293 | G>S | No |
ClinGen gnomAD |
|
|
rs1161560765 CA414555912 |
1295 | E>K | No |
ClinGen TOPMed |
|
|
RCV000479275 rs1064796795 |
1296 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1297 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335108876 rs1040347431 |
1298 | G>R | No |
ClinGen TOPMed |
|
|
rs375807261 CA10517551 |
1299 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10517550 rs780613870 |
1300 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1301 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756803963 CA10517549 |
1302 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10517547 rs763836774 |
1304 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1305 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10517546 rs758094225 |
1306 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs144820701 CA10517545 |
1306 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10517544 rs765249623 |
1308 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367757195 CA414555730 |
1309 | N>D | No |
ClinGen TOPMed |
|
|
rs1339656009 TCGA novel CA414555693 |
1311 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
rs1327370623 CA414555703 |
1311 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753343235 CA335108836 |
1312 | G>E | No |
ClinGen TOPMed |
|
|
CA335108841 rs1004053259 |
1312 | G>R | No |
ClinGen Ensembl |
|
|
rs776718991 CA10517541 |
1314 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA414555648 rs1259071166 |
1315 | G>D | No |
ClinGen TOPMed |
|
|
CA414555653 rs1391402441 |
1315 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs141597908 CA10517540 |
1316 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373560620 CA335108821 |
1317 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs1159139035 CA414555618 |
1318 | A>V | No |
ClinGen gnomAD |
|
|
rs774399890 CA10517538 |
1325 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs369521240 CA10517537 |
1327 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765250706 CA10517536 |
1330 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10517535 rs775890919 |
1331 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764629677 CA335108805 |
1332 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA414555490 rs1452512686 |
1333 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1361539588 CA414555485 |
1334 | V>A | No |
ClinGen TOPMed |
|
|
COSM487962 CA10517533 rs200440710 |
1334 | V>I | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1481695060 CA414555478 |
1335 | P>L | No |
ClinGen gnomAD |
|
|
rs139882934 CA414555477 |
1336 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139882934 CA335108791 |
1336 | I>V | No |
ClinGen ESP TOPMed gnomAD |
No associated diseases with Q8N6C5
4 regional properties for Q8N6C5
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| activin receptor antagonist activity | Interacting with an activin receptor complex to reduce the action of another ligand, the agonist. A receptor antagonist does not initiate signaling upon binding to a receptor, but instead blocks an agonist from binding to the receptor. |
| coreceptor activity | Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity. |
| inhibin binding | Binding to an inhibin monomer, any of the polypeptides that combine to form activin and inhibin dimers. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of activin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any activin receptor signaling pathway. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9EPH1 | A1bg | Alpha-1B-glycoprotein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLDRPGEGA | TMLKTFTVLL | FCIRMSLGMT | SIVMDPQPEL | WIESNYPQAP | WENITLWCRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSRISSKFLL | LKDKTQMTWI | RPSHKTFQVS | FLIGALTESN | AGLYRCCYWK | ETGWSKPSKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LELEAPGQLP | KPIFWIQAET | PALPGCNVNI | LCHGWLQDLV | FMLFKEGYAE | PVDYQVPTGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MAIFSIDNLT | PEDEGVYICR | THIQMLPTLW | SEPSNPLKLV | VAGLYPKPTL | TAHPGPIMAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GESLNLRCQG | PIYGMTFALM | RVEDLEKSFY | HKKTIKNEAN | FFFQSLKIQD | TGHYLCFYYD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASYRGSLLSD | VLKIWVTDTF | PKTWLLARPS | AVVQMGQNVS | LRCRGPVDGV | GLALYKKGED |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KPLQFLDATS | IDDNTSFFLN | NVTYSDTGIY | SCHYLLTWKT | SIRMPSHNTV | ELMVVDKPPK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PSLSAWPSTV | FKLGKAITLQ | CRVSHPVLEF | SLEWEERETF | QKFSVNGDFI | ISNVDGKGTG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TYSCSYRVET | HPNIWSHRSE | PLKLMGPAGY | LTWNYVLNEA | IRLSLIMQLV | ALLLVVLWIR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WKCRRLRIRE | AWLLGTAQGV | TMLFIVTALL | CCGLCNGVLI | EETEIVMPTP | KPELWAETNF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PLAPWKNLTL | WCRSPSGSTK | EFVLLKDGTG | WIATRPASEQ | VRAAFPLGAL | TQSHTGSYHC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HSWEEMAVSE | PSEALELVGT | DILPKPVISA | SPTIRGQELQ | LRCKGWLAGM | GFALYKEGEQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EPVQQLGAVG | REAFFTIQRM | EDKDEGNYSC | RTHTEKRPFK | WSEPSEPLEL | VIKEMYPKPF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FKTWASPVVT | PGARVTFNCS | TPHQHMSFIL | YKDGSEIASS | DRSWASPGAS | AAHFLIISVG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IGDGGNYSCR | YYDFSIWSEP | SDPVELVVTE | FYPKPTLLAQ | PGPVVFPGKS | VILRCQGTFQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GMRFALLQEG | AHVPLQFRSV | SGNSADFLLH | TVGAEDSGNY | SCIYYETTMS | NRGSYLSMPL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MIWVTDTFPK | PWLFAEPSSV | VPMGQNVTLW | CRGPVHGVGY | ILHKEGEATS | MQLWGSTSND |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GAFPITNISG | TSMGRYSCCY | HPDWTSSIKI | QPSNTLELLV | TGLLPKPSLL | AQPGPMVAPG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ENMTLQCQGE | LPDSTFVLLK | EGAQEPLEQQ | RPSGYRADFW | MPAVRGEDSG | IYSCVYYLDS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TPFAASNHSD | SLEIWVTDKP | PKPSLSAWPS | TMFKLGKDIT | LQCRGPLPGV | EFVLEHDGEE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| APQQFSEDGD | FVINNVEGKG | IGNYSCSYRL | QAYPDIWSEP | SDPLELVGAA | GPVAQECTVG |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NIVRSSLIVV | VVVALGVVLA | IEWKKWPRLR | TRGSETDGRD | QTIALEECNQ | EGEPGTPANS |
| 1330 | |||||
| PSSTSQRISV | ELPVPI |