Q8N766
PR
Gene name |
EMC1 (KIAA0090, PSEC0263) |
Protein name |
ER membrane protein complex subunit 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23065 |
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
792 variants for Q8N766
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002568594 CA653069 rs11558182 RCV001244626 |
21 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001330597 CA653046 rs147726649 RCV001863225 |
35 | Q>R | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546910 RCV001340758 CA338774198 rs1305019836 |
37 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs754225597 RCV002539482 CA18824374 RCV001301723 |
43 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000845002 RCV000210379 rs869320625 RCV000235453 CA358733 RCV001245329 RCV001266146 VAR_076915 |
82 | T>M | EMC1-Related Disorder Variant assessed as Somatic; 0.0 impact. Cerebellar atrophy, visual impairment, and psychomotor retardation; Inborn genetic diseases CAVIPMR [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV001044624 RCV001333808 rs371844391 CA652964 |
102 | N>S | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA652959 RCV001325511 rs148538980 RCV000787969 |
105 | R>* | Obesity [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002492118 CA338770737 RCV001993375 rs370952454 |
142 | Y>* | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000210390 VAR_076916 rs869320623 CA358737 RCV001257808 |
144 | A>T | Autosomal recessive retinitis pigmentosa Variant assessed as Somatic; impact. found in patients with retinitis pigmentosa; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs537594873 CA652757 RCV001245678 RCV002564096 |
304 | Q>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001350550 RCV003169735 rs370803621 CA652699 |
351 | G>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA652664 RCV001333805 rs747996783 RCV001339662 |
369 | F>L | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001299995 COSM531395 RCV001330598 CA652663 rs144675935 |
370 | N>S | lung Cerebellar atrophy, visual impairment, and psychomotor retardation; [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1558106688 RCV001330599 CA338766604 |
376 | N>T | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000853067 RCV001303390 CA338766564 rs778470143 |
378 | Y>* | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002561737 rs759816328 RCV003145386 RCV001210523 CA652653 |
384 | R>W | Cerebellar atrophy, visual impairment, and psychomotor retardation; Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs879253819 CA10575838 VAR_076917 RCV000236644 RCV000416428 |
471 | G>R | Cerebellar atrophy, visual impairment, and psychomotor retardation; CAVIPMR; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001345534 rs759830718 CA652560 RCV002493775 |
498 | W>R | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623580 rs1553252938 CA338760490 |
584 | P>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000986272 rs1553252938 CA338760489 |
584 | P>R | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000986271 rs1572001567 CA338760479 |
585 | P>Q | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780784852 RCV001267161 RCV002541630 |
610 | K>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA652478 rs368763123 RCV002546174 RCV001326308 |
621 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs149861361 RCV002540053 RCV000885583 CA652420 |
685 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs374969388 COSM3400140 CA652419 RCV002543732 RCV001317560 |
687 | R>Q | central_nervous_system prostate Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000845001 rs1558096194 CA338757178 RCV000760574 |
696 | W>* | EMC1-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA18813161 RCV001348230 rs781072054 RCV002547472 |
702 | P>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA652387 RCV001049081 rs139714938 RCV002553193 |
708 | V>I | Variant assessed as Somatic; 4.62e-05 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001318522 CA652339 rs148338469 RCV001330600 RCV002543752 |
750 | A>T | Cerebellar atrophy, visual impairment, and psychomotor retardation; Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001333806 rs758769418 CA652309 RCV001865791 |
792 | V>L | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2093425936 RCV001333807 |
864 | G>V | Cerebellar atrophy, visual impairment, and psychomotor retardation; [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000236026 RCV000210388 CA358735 rs869320626 VAR_076918 |
868 | G>R | Cerebellar atrophy, visual impairment, and psychomotor retardation; CAVIPMR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000210401 RCV000416596 RCV000236490 rs869320624 |
874 | P>missing | Cerebellar atrophy, visual impairment, and psychomotor retardation; Congenital anomaly of kidney and urinary tract [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252710 CA652198 COSM3418546 RCV001860555 rs777684249 |
884 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Microcephaly [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002552603 RCV001046729 CA652158 rs139335524 |
918 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA652125 rs766662046 RCV001242847 RCV002568560 |
947 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000853068 CA338749164 rs1267383375 RCV001093404 |
953 | F>S | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA338776193 rs749957590 RCV001339048 |
2 | A>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA653081 rs749957590 RCV001237874 |
2 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA338776157 rs552276163 |
3 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA653080 RCV001039177 rs552276163 |
3 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1399868705 CA338776138 |
4 | E>A | No |
ClinGen TOPMed |
|
|
CA338776129 CA338776127 rs1192560440 |
4 | E>D | No |
ClinGen TOPMed |
|
|
CA338776142 rs1485655637 |
4 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA338776109 rs1240204274 |
5 | W>C | No |
ClinGen gnomAD |
|
|
rs1569583199 CA338776114 |
5 | W>G | No |
ClinGen Ensembl |
|
|
CA653079 rs761090306 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA653077 rs772583643 |
7 | S>F | No |
ClinGen ExAC gnomAD |
|
|
RCV001243887 rs370530522 CA18827917 |
7 | S>P | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
RCV001228347 CA653076 rs759788442 |
8 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA338776024 rs759788442 |
8 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774681453 CA653075 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774681453 CA338776004 |
8 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338776012 rs759788442 |
8 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs771325779 CA653074 |
9 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18827893 rs911411745 RCV001304956 |
9 | F>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA338775958 rs771325779 |
9 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214155908 CA338775858 |
12 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749385394 CA653073 |
14 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs377281530 CA18827888 |
14 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA18827885 rs998516613 |
16 | L>V | No |
ClinGen Ensembl |
|
|
rs1356408223 CA338775730 |
18 | P>A | No |
ClinGen gnomAD |
|
|
rs11558182 CA653070 |
21 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338775622 rs1183404891 |
22 | V>A | No |
ClinGen gnomAD |
|
|
rs1183404891 CA338775624 |
22 | V>G | No |
ClinGen gnomAD |
|
|
CA338775606 rs1444978126 |
23 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1242271777 CA338775582 |
24 | E>G | No |
ClinGen gnomAD |
|
|
rs1302795960 CA338775501 |
27 | V>G | No |
ClinGen TOPMed |
|
|
rs1181732468 CA338775473 |
29 | K>E | No |
ClinGen gnomAD |
|
|
rs768640250 CA653047 |
32 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371342305 CA338774226 |
36 | Y>H | No |
ClinGen gnomAD |
|
|
CA338774224 rs1254210101 |
36 | Y>S | No |
ClinGen TOPMed |
|
|
CA338774129 rs1235455000 |
39 | K>R | No |
ClinGen TOPMed |
|
|
rs902716680 CA18824376 |
40 | V>D | No |
ClinGen TOPMed |
|
|
CA338774123 rs1558113972 |
40 | V>L | No |
ClinGen Ensembl |
|
|
rs758010612 CA653044 |
41 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs549890473 RCV001247230 CA653042 |
44 | S>F | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA338774024 rs1367681936 |
46 | E>A | No |
ClinGen TOPMed |
|
|
rs1158356981 CA338774031 |
46 | E>K | No |
ClinGen gnomAD |
|
|
CA653041 rs756688114 |
48 | S>P | No |
ClinGen ExAC |
|
|
rs1417218993 CA338773977 |
49 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA653039 rs201537299 |
52 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 53 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751918464 CA653037 |
55 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA653038 rs751918464 |
55 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA653035 rs139340398 |
56 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA653033 CA653034 rs139340398 |
56 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338773854 rs1239034113 |
59 | E>D | No |
ClinGen gnomAD |
|
|
rs768511495 CA653030 |
59 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA338773834 rs1315654584 |
61 | N>S | No |
ClinGen gnomAD |
|
|
rs746960149 CA653029 |
62 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653027 rs771790812 |
63 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338773805 rs1558113835 |
64 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 66 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377695140 CA338773733 |
67 | N>H | No |
ClinGen TOPMed |
|
|
CA338773699 rs1384112958 |
68 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA653024 rs757025272 |
69 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653025 rs757025272 |
69 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748743672 COSM901470 CA653023 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA18824354 rs888960451 |
73 | I>M | No |
ClinGen gnomAD |
|
|
rs774266430 CA653001 |
74 | L>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001042277 rs372022434 CA653000 |
76 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA652999 rs748974716 |
76 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1448087008 CA338773316 |
78 | V>A | No |
ClinGen gnomAD |
|
|
CA652998 rs368599490 |
80 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 80 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939529468 CA18824103 |
84 | E>D | No |
ClinGen Ensembl |
|
|
rs1056629023 CA18824107 |
84 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA18824110 rs888141172 |
84 | E>K | No |
ClinGen TOPMed |
|
|
CA652997 rs769401932 |
85 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466033920 CA338773063 |
87 | V>M | No |
ClinGen TOPMed |
|
|
rs1225481220 CA338773018 |
89 | A>D | No |
ClinGen gnomAD |
|
|
rs780412663 CA652995 |
90 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA652994 rs759012766 |
92 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148404729 CA652992 RCV001345527 |
94 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA652990 rs566586156 |
95 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 98 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181007950 CA18823967 |
100 | V>L | No |
ClinGen 1000Genomes |
|
|
CA652965 rs766468841 |
101 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs371844391 RCV001352477 |
102 | N>I | No |
ClinVar dbSNP |
|
|
CA652962 rs764918641 |
102 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1337448 rs761543184 CA652961 |
104 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs148538980 CA652960 |
105 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338772279 rs1345784060 |
105 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA338772243 rs1282285844 |
107 | M>V | No |
ClinGen gnomAD |
|
|
rs746537714 CA652958 |
108 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA652957 rs774813068 |
108 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1027071040 CA18823942 |
114 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA18823945 rs952391056 RCV001341977 |
114 | I>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA338771970 rs749646972 RCV001316524 CA652954 |
115 | G>R | No |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
CA652953 rs778113185 |
116 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs756243435 CA652952 |
116 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477159199 CA338771831 |
119 | W>R | No |
ClinGen gnomAD |
|
|
RCV001344170 CA652951 rs142586837 |
125 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142586837 CA338771638 |
125 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338771594 rs1274698308 |
126 | G>R | No |
ClinGen gnomAD |
|
|
CA652950 rs781310817 |
127 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA18823933 rs975934679 |
127 | S>R | No |
ClinGen Ensembl |
|
|
rs752142992 CA652920 |
129 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs575803645 CA18823388 |
129 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA338770860 rs1572026142 |
131 | L>F | No |
ClinGen Ensembl |
|
|
CA338770844 rs886228327 |
133 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1171450971 CA338770829 |
134 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429337899 CA338770819 |
135 | G>C | No |
ClinGen gnomAD |
|
|
rs1445183910 CA338770795 |
138 | E>K | No |
ClinGen gnomAD |
|
|
CA652918 rs759088119 |
139 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs773687759 CA652917 RCV001225823 |
140 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1255361623 CA338770754 |
141 | R>T | No |
ClinGen TOPMed |
|
|
rs148311067 CA18823379 |
142 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA652915 rs536488842 RCV001313836 |
143 | I>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs536488842 CA18823372 |
143 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652913 rs768867636 |
145 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA652912 rs747259745 |
146 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs142661057 CA652911 |
149 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772243812 CA652910 |
150 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA338770654 rs1368496995 |
150 | T>I | No |
ClinGen TOPMed |
|
|
CA652909 rs745989713 |
151 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs147106433 CA652907 |
152 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147106433 CA652908 |
152 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA652905 rs563725300 |
153 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA652904 rs145790651 |
154 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA652903 rs752316981 |
155 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652902 rs767208236 |
156 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213978557 CA338770569 |
158 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA338770572 rs1213978557 |
158 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759034829 CA652900 |
159 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1176067669 CA338770529 |
162 | K>* | No |
ClinGen gnomAD |
|
|
rs1270538282 CA338770513 |
163 | W>* | No |
ClinGen gnomAD |
|
|
rs765713481 CA652898 |
163 | W>C | No |
ClinGen ExAC TOPMed |
|
|
rs1481879532 CA338770518 |
163 | W>G | No |
ClinGen gnomAD |
|
|
CA652897 rs762244697 |
164 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769177154 CA652895 |
166 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA652896 rs777008369 |
166 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA652892 rs761159938 |
167 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1390310352 CA338770323 |
173 | I>V | No |
ClinGen gnomAD |
|
|
rs773011767 CA652867 |
177 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338770256 rs749436505 |
177 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749436505 CA652868 |
177 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338770246 rs1176436779 |
178 | V>A | No |
ClinGen gnomAD |
|
|
rs1407744423 CA338770251 |
178 | V>M | No |
ClinGen gnomAD |
|
|
rs557709698 CA652865 |
179 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA652864 rs747871687 |
180 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1167848259 CA521517069 |
181 | Y>* | No |
ClinGen TOPMed |
|
|
CA652862 rs201096584 |
182 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1572022964 CA338770184 |
185 | V>G | No |
ClinGen Ensembl |
|
|
CA652860 rs779798942 |
186 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338770171 rs1463933161 |
187 | W>* | No |
ClinGen gnomAD |
|
|
CA652858 rs750005294 |
188 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA652855 rs753052916 |
190 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338770125 rs1437092860 |
192 | V>F | No |
ClinGen TOPMed |
|
|
rs571872104 CA652854 |
193 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs956635441 CA18822733 |
193 | P>L | No |
ClinGen TOPMed |
|
|
CA338770080 rs1272667334 |
195 | S>G | No |
ClinGen TOPMed |
|
|
rs759762786 CA652853 |
195 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1231657927 CA338770032 |
198 | N>I | No |
ClinGen TOPMed |
|
|
rs1381642094 CA338770029 |
198 | N>K | No |
ClinGen TOPMed |
|
|
rs1384834925 CA338770016 |
199 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA652851 rs766683974 |
200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA652849 rs146031590 |
201 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201268650 RCV001226792 CA652850 |
201 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA652848 rs769665177 |
204 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs748111037 CA652847 |
206 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18822709 rs375695001 |
208 | E>K | No |
ClinGen ESP |
|
|
CA338769842 rs776372701 |
209 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA652846 rs776372701 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187713014 CA338769336 |
215 | V>A | No |
ClinGen gnomAD |
|
|
rs1184005714 CA338769356 |
215 | V>F | No |
ClinGen gnomAD |
|
|
CA652831 rs750457976 |
217 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766355680 CA652830 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338769305 rs766355680 |
218 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290319110 CA338769263 |
221 | Q>* | No |
ClinGen gnomAD |
|
|
rs1209240670 CA338769234 |
223 | L>V | No |
ClinGen gnomAD |
|
|
CA338769215 rs1280801312 |
224 | S>C | No |
ClinGen gnomAD |
|
|
CA652826 rs760381109 |
226 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652825 rs775355750 |
226 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA652824 rs367574801 RCV001346556 |
228 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA338769143 rs1324543210 |
229 | V>A | No |
ClinGen gnomAD |
|
|
CA652822 rs571944461 |
231 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12084825 RCV001213028 |
232 | E>D | No |
ClinVar dbSNP |
|
|
CA338769092 rs1250309487 |
232 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18822359 RCV001345521 rs1014402874 |
234 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338769048 rs1572021087 |
236 | V>G | No |
ClinGen Ensembl |
|
|
rs781763915 RCV001064499 |
236 | V>L | No |
ClinVar dbSNP |
|
|
rs781763915 CA652819 |
236 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs199964251 CA652817 |
238 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755514370 CA652818 |
238 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001213798 rs41302030 CA652816 |
239 | D>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA652815 RCV001727738 rs141614470 RCV000514606 |
240 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765495786 CA652813 |
241 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA338768949 RCV001062891 rs1286304624 |
243 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA652812 rs761865628 |
243 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652811 rs753983035 |
245 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA338768936 rs753983035 |
245 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224971006 CA338768922 |
246 | Q>H | No |
ClinGen gnomAD |
|
|
CA652810 rs200901424 |
246 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001052834 rs200901424 |
246 | Q>R | No |
ClinVar dbSNP |
|
|
rs1418343250 CA338768904 |
247 | T>I | No |
ClinGen gnomAD |
|
|
rs1367795435 CA338768897 |
248 | L>S | No |
ClinGen gnomAD |
|
|
RCV001345406 rs2093597394 |
251 | E>K | No |
ClinVar dbSNP |
|
|
CA652806 rs558157154 RCV001307359 |
252 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA652807 rs558157154 |
252 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338768732 rs1386294173 |
256 | L>F | No |
ClinGen TOPMed |
|
|
RCV001229160 CA18822258 rs986694857 |
257 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338768676 rs1156953877 |
260 | P>A | No |
ClinGen gnomAD |
|
|
CA338768522 rs1236371581 |
264 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA338768515 rs1439129239 |
265 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1439129239 CA338768516 |
265 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA338768495 rs1277233450 |
266 | L>* | No |
ClinGen gnomAD |
|
|
rs970006483 CA18822056 |
266 | L>F | No |
ClinGen TOPMed |
|
|
rs1229538065 CA338768469 |
269 | G>* | No |
ClinGen gnomAD |
|
|
rs199938439 CA18822054 |
271 | G>E | No |
ClinGen 1000Genomes |
|
|
CA652778 rs772631363 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs149183157 CA338768386 |
275 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338768378 rs374425694 |
275 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA652776 RCV000915577 rs374425694 |
275 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149183157 CA652777 |
275 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652775 rs757418286 |
280 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA652774 rs749555107 |
282 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749555107 CA338768277 |
282 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18822041 rs199565591 |
283 | P>R | No |
ClinGen Ensembl |
|
|
rs756195926 CA652772 |
284 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771525883 CA652773 RCV001321009 |
284 | V>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs771525883 CA18822038 |
284 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338768251 rs1428914211 |
285 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1428914211 CA338768253 |
285 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV001238430 CA652770 rs371520907 |
286 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1412453628 CA338768224 |
287 | S>C | No |
ClinGen gnomAD |
|
|
rs766309539 CA652767 |
288 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652768 rs751352541 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203968629 CA338768196 |
290 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1400599092 CA338768186 |
291 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA652764 rs772900959 |
294 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338768155 rs772900959 |
294 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184104735 CA338768157 |
294 | H>Y | No |
ClinGen TOPMed |
|
|
rs761385909 CA338768135 |
295 | L>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_027359 rs3850531 CA652763 |
295 | L>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA652761 rs776006023 |
296 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA652760 rs760055012 |
297 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652759 rs760055012 |
297 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774655480 CA652758 |
298 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338768082 rs1226883233 |
300 | Y>C | No |
ClinGen TOPMed |
|
|
rs1409427402 CA338768037 |
304 | Q>R | No |
ClinGen gnomAD |
|
|
RCV001246913 CA338768020 rs1295003726 |
305 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 305 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA652756 rs372581182 |
306 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000961258 CA652754 rs35951065 |
309 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781444228 CA652752 |
310 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751514161 CA652750 |
312 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs969270384 CA18821979 |
312 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1024889239 CA18821971 |
313 | L>F | No |
ClinGen TOPMed |
|
|
rs780192600 CA338767931 |
315 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652748 rs758203116 |
317 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs909719740 CA18821965 |
318 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA338767824 rs1263391055 |
320 | A>D | No |
ClinGen TOPMed |
|
|
CA338767813 rs1224456846 COSM1638273 |
322 | V>L | bone [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1303125610 CA338767789 |
325 | A>T | No |
ClinGen gnomAD |
|
|
RCV001204942 CA652726 rs558044673 |
327 | T>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs370270516 CA652725 |
328 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA652724 rs756891752 |
329 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001047421 rs756891752 CA18821728 |
329 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs753453945 CA652723 |
331 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs763783278 CA652722 |
332 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA652721 rs200540304 |
333 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338767704 rs1445403565 |
334 | A>V | No |
ClinGen gnomAD |
|
|
rs1258339799 CA338767689 |
336 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752271563 CA652720 |
336 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA18821714 rs375705129 |
337 | A>S | No |
ClinGen ESP |
|
|
CA18821708 rs942233294 |
338 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs756078343 CA18821700 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA652719 rs540043483 |
339 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA18821696 rs1005469907 |
340 | N>S | No |
ClinGen Ensembl |
|
|
CA652718 rs144915432 |
341 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338767613 rs1360334874 |
342 | V>L | No |
ClinGen TOPMed |
|
|
rs709683 VAR_027360 CA652702 |
345 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 346 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_027361 rs709682 CA652701 |
347 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs544221932 CA652700 |
349 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338767096 rs1283993580 |
350 | D>G | No |
ClinGen TOPMed |
|
|
CA338767087 rs1351488256 |
351 | G>R | No |
ClinGen gnomAD |
|
|
CA652698 rs766968383 |
352 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA338767075 rs1572016923 |
352 | S>A | No |
ClinGen Ensembl |
|
|
CA338767056 rs1457511286 |
353 | M>I | No |
ClinGen gnomAD |
|
|
CA652696 rs200708107 |
353 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA652697 rs376686021 |
353 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765834126 CA652695 |
355 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652694 RCV001235917 rs201276598 |
357 | S>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs764358292 CA652692 |
359 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA652691 rs760996624 |
360 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA652690 rs775595011 |
361 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411324984 CA338766942 |
361 | S>I | No |
ClinGen TOPMed |
|
|
rs1268024486 CA338766921 |
362 | S>L | No |
ClinGen gnomAD |
|
|
rs773174389 CA652666 |
364 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2093579793 RCV001326819 |
365 | S>A | No |
ClinVar dbSNP |
|
|
rs1316576773 CA338766747 |
367 | A>S | No |
ClinGen gnomAD |
|
|
CA652665 rs769556765 |
368 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171726242 CA338766709 |
370 | N>H | No |
ClinGen gnomAD |
|
|
rs768362630 CA652662 |
371 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs558721095 CA652661 |
372 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338766645 rs1165994376 |
373 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA338766638 rs1558106718 |
374 | T>A | No |
ClinGen Ensembl |
|
|
rs1448409780 CA338766633 |
374 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779642382 CA652660 |
375 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA652658 rs138954068 |
378 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652654 rs534077257 |
380 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA652655 rs534077257 |
380 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338766467 rs1300512622 |
383 | G>S | No |
ClinGen gnomAD |
|
|
rs751544107 CA652652 |
384 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773121209 CA338766438 |
385 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1211829 rs773121209 CA652649 |
385 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763069882 CA652650 |
385 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652647 rs761451644 |
389 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338766393 rs761451644 |
389 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144716849 CA338766377 |
390 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144716849 RCV000952290 CA652646 |
390 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001231130 rs758815632 |
394 | S>missing | No |
ClinVar dbSNP |
|
|
CA338766217 rs200440484 |
396 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200440484 CA338766218 |
396 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652644 rs200440484 |
396 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652642 rs779890072 |
397 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779890072 CA652643 |
397 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA18821070 rs777706748 |
397 | Q>H | No |
ClinGen Ensembl |
|
|
CA652641 rs200550982 |
399 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1404617553 CA338766142 |
400 | T>S | No |
ClinGen TOPMed |
|
|
CA652638 RCV000910557 rs146431577 |
401 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA652639 rs778418940 RCV001307855 |
401 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs781636952 CA652636 |
403 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA652637 rs752945470 |
403 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA338766085 rs144713581 |
404 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751785102 CA338766080 |
404 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652634 rs751785102 |
404 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001296881 rs144713581 CA652635 |
404 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA338765905 rs1295283330 |
406 | Y>C | No |
ClinGen gnomAD |
|
|
CA338765902 rs1295283330 |
406 | Y>F | No |
ClinGen gnomAD |
|
|
CA338765897 rs1213853393 |
407 | I>V | No |
ClinGen TOPMed |
|
|
rs748720028 CA652619 |
410 | F>L | No |
ClinGen ExAC |
|
|
rs1027666644 CA18820606 |
414 | D>G | No |
ClinGen gnomAD |
|
|
rs1027666644 CA338765727 |
414 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338765644 rs1162151185 |
417 | V>G | No |
ClinGen gnomAD |
|
|
RCV001299292 CA18820594 rs149732850 |
417 | V>M | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs747400495 CA338765547 |
420 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs747400495 CA652616 |
420 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147189826 CA652617 |
420 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652615 rs780185650 |
423 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA338765477 rs1360040739 |
424 | Q>R | No |
ClinGen TOPMed |
|
|
CA652614 rs758636059 |
426 | E>* | No |
ClinGen ExAC |
|
|
RCV001232696 rs2093571600 |
427 | D>H | No |
ClinVar dbSNP |
|
|
CA652613 rs750456353 |
428 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA652612 rs765336021 |
431 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652610 TCGA novel RCV001041458 rs753788724 |
432 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA338765266 rs757316887 |
432 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs757316887 CA652611 |
432 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA652609 rs763993023 |
434 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
RCV001233863 rs2093571496 |
435 | Q>H | No |
ClinVar dbSNP |
|
|
rs1558103725 CA338764408 |
441 | V>M | No |
ClinGen Ensembl |
|
|
CA338764381 rs1294219029 |
442 | L>P | No |
ClinGen gnomAD |
|
|
CA652591 rs371025215 |
443 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs578239910 CA652590 |
445 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752490808 CA652589 |
445 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338764288 rs1253160734 |
446 | E>G | No |
ClinGen TOPMed |
|
|
CA652587 rs759444198 |
452 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1205380871 CA338764177 |
453 | V>M | No |
ClinGen TOPMed |
|
|
rs1288036949 CA338764139 |
454 | C>F | No |
ClinGen TOPMed |
|
|
rs766014351 CA652585 |
454 | C>G | No |
ClinGen ExAC TOPMed |
|
|
rs1000794471 CA18819581 |
455 | L>P | No |
ClinGen Ensembl |
|
|
CA338764104 rs1192529772 |
457 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338763958 rs1370469680 |
468 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1299373716 CA338763940 |
469 | L>V | No |
ClinGen TOPMed |
|
|
rs769159975 CA652581 |
474 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1572007237 CA338763806 |
476 | K>N | No |
ClinGen Ensembl |
|
|
CA338763810 rs1401244070 |
476 | K>R | No |
ClinGen Ensembl |
|
|
RCV001319043 rs1348913197 |
477 | A>missing | No |
ClinVar dbSNP |
|
|
CA652566 rs375701698 |
482 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338763176 rs1558101967 |
487 | R>H | No |
ClinGen Ensembl |
|
|
rs749905447 CA652565 COSM1667211 |
489 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA18816144 RCV001208582 rs941950774 |
493 | I>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs761358639 CA652563 |
494 | L>V | No |
ClinGen ExAC |
|
|
rs1461159671 CA338763047 |
495 | L>Q | No |
ClinGen gnomAD |
|
|
CA652561 COSM240340 rs772637593 |
496 | Q>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs2093536243 RCV001321515 |
499 | T>I | No |
ClinVar dbSNP |
|
|
rs1412912297 CA338762998 |
500 | S>P | No |
ClinGen gnomAD |
|
|
rs774595213 CA652559 |
502 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1212485065 CA338762948 |
503 | W>L | No |
ClinGen gnomAD |
|
|
CA652558 rs771137407 |
507 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338762861 rs1466715878 COSM1743249 |
507 | Y>H | biliary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA338762781 rs1351938576 |
510 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA338762756 rs1279325603 |
511 | K>N | No |
ClinGen gnomAD |
|
|
CA652555 rs769971936 |
513 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969642659 CA18816107 |
513 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA338762701 rs1440291720 |
514 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA338762685 rs1392305968 |
515 | Q>E | No |
ClinGen gnomAD |
|
|
rs369633672 CA652554 |
516 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 518 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338762563 rs1384044948 |
520 | I>F | No |
ClinGen gnomAD |
|
|
CA652552 rs754977653 |
520 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1395645111 CA338762531 |
522 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1192871067 CA338762463 |
525 | L>V | No |
ClinGen gnomAD |
|
|
CA652550 rs779742145 |
528 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs375579318 CA652551 |
528 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652548 rs750018597 RCV001312067 |
531 | N>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs756760143 CA652546 |
532 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs960142415 CA18816064 |
534 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753353617 TCGA novel CA652545 |
535 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1172977297 CA338762263 |
535 | M>T | No |
ClinGen Ensembl |
|
|
rs1558101626 CA338762227 |
537 | V>L | No |
ClinGen Ensembl |
|
|
CA338762195 rs1281684022 |
538 | M>I | No |
ClinGen gnomAD |
|
|
RCV001352241 CA338762180 rs1234115482 |
539 | V>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA338762187 rs1422084899 |
539 | V>I | No |
ClinGen gnomAD |
|
|
CA338762151 rs200921330 |
541 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652544 RCV001243088 rs200921330 |
541 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA18815949 rs572169151 RCV001044739 |
545 | L>F | No |
ClinGen ClinVar 1000Genomes dbSNP |
|
|
RCV001235224 CA652528 rs778474763 |
548 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA652526 rs753299722 |
550 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1171002164 CA338761267 |
555 | I>M | No |
ClinGen gnomAD |
|
|
rs751988757 CA652523 |
556 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1164702292 CA338761188 |
557 | W>G | No |
ClinGen gnomAD |
|
|
CA652521 rs763161047 |
558 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs765505671 CA652519 |
559 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 559 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 560 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437315740 CA338760984 |
564 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775280752 CA652513 |
566 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA338760905 rs1289935855 |
568 | S>F | No |
ClinGen TOPMed |
|
| rs1372501893 | 569 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572001626 CA338760697 |
575 | Q>H | No |
ClinGen Ensembl |
|
|
CA338760707 rs1282150881 |
575 | Q>R | No |
ClinGen gnomAD |
|
|
rs745594225 CA652510 |
576 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748910199 CA652507 |
583 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777451844 CA652506 |
584 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201264850 RCV001305745 CA18815869 |
587 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338760422 rs1352321030 |
588 | T>I | No |
ClinGen gnomAD |
|
|
rs755566198 CA652505 |
590 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1461676071 CA338760331 |
593 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18815867 rs551053110 |
594 | K>E | No |
ClinGen Ensembl |
|
|
rs1243362241 CA338760083 |
595 | E>K | No |
ClinGen Ensembl |
|
|
CA18815179 rs952263658 |
595 | E>V | No |
ClinGen TOPMed |
|
|
RCV000882538 CA652491 rs140940082 |
596 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs960478132 CA18815174 |
597 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA18815172 rs1034682764 |
598 | M>I | No |
ClinGen TOPMed |
|
|
CA652489 rs777399449 |
601 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA18815167 rs372717647 |
602 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338759930 rs1379030015 |
602 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA338759863 rs1252448672 |
605 | N>S | No |
ClinGen gnomAD |
|
|
rs1214845365 CA338759763 |
609 | G>A | No |
ClinGen gnomAD |
|
|
CA338759770 rs1266621519 |
609 | G>R | No |
ClinGen gnomAD |
|
|
CA652485 rs754485288 |
612 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA338759608 rs966605939 |
615 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs977485140 CA18815144 |
615 | A>T | No |
ClinGen Ensembl |
|
|
rs966605939 CA18815142 |
615 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750940846 CA652484 |
616 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs565316334 CA652483 |
617 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565316334 RCV001048704 CA652482 |
617 | P>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA338759532 rs1287879247 |
620 | K>M | No |
ClinGen gnomAD |
|
|
rs116784512 RCV000880539 COSM175265 CA652479 |
621 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA652480 rs116784512 |
621 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1242026586 CA338759493 |
622 | P>L | No |
ClinGen gnomAD |
|
|
CA338759474 rs1216836646 |
623 | I>M | No |
ClinGen TOPMed |
|
|
rs1571998050 CA338759476 |
623 | I>S | No |
ClinGen Ensembl |
|
|
rs767605642 CA652477 |
624 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1394604547 CA338759396 |
627 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1435870537 CA338759398 |
627 | L>W | No |
ClinGen gnomAD |
|
|
rs1395639618 CA338759384 |
629 | L>F | No |
ClinGen TOPMed |
|
|
rs1196805417 CA338759376 |
630 | P>L | No |
ClinGen gnomAD |
|
|
RCV001344216 rs2093519912 |
631 | V>L | No |
ClinVar dbSNP |
|
|
CA338759338 rs1262721985 |
634 | Q>* | No |
ClinGen gnomAD |
|
|
CA652475 rs774259506 |
634 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762676984 CA652473 |
636 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA652471 rs769289181 |
637 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747803705 CA652470 |
637 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776192703 CA652469 RCV001202097 |
643 | I>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA338759157 rs1307511146 |
643 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1294415329 CA338759105 |
646 | E>A | No |
ClinGen gnomAD |
|
|
CA338759097 rs1380166949 |
647 | Y>H | No |
ClinGen gnomAD |
|
|
rs768197058 CA652468 |
648 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1315154488 CA338759070 |
648 | K>N | No |
ClinGen gnomAD |
|
|
CA652447 rs771528449 |
649 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs778193486 CA652445 |
650 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA338758984 rs1249257015 |
650 | T>S | No |
ClinGen gnomAD |
|
|
CA18814863 rs756490055 |
651 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA338758978 rs1269044010 |
651 | A>S | No |
ClinGen gnomAD |
|
|
CA652444 rs756490055 |
651 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA338758954 rs1273440084 |
652 | F>S | No |
ClinGen gnomAD |
|
|
rs1356167324 CA338758910 |
654 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA338758881 rs1241868526 |
655 | T>I | No |
ClinGen gnomAD |
|
|
rs755215386 CA338758878 |
656 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652440 rs369860477 |
656 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652441 rs755215386 |
656 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338758842 rs1444676722 |
658 | V>I | No |
ClinGen gnomAD |
|
|
CA652438 RCV001323232 rs201271494 |
660 | R>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201271494 RCV001206193 CA652439 |
660 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750358879 CA652437 |
660 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA18814835 rs997799835 |
661 | Q>* | No |
ClinGen TOPMed |
|
|
rs373217588 CA18814834 |
661 | Q>R | No |
ClinGen ESP |
|
|
CA338758748 rs1160056979 |
663 | H>Q | No |
ClinGen gnomAD |
|
|
rs1388369324 CA338758753 |
663 | H>R | No |
ClinGen gnomAD |
|
|
CA652435 rs761598407 |
663 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV001306027 rs2093516350 |
664 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 665 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338758685 rs1363176605 |
666 | A>T | No |
ClinGen gnomAD |
|
|
CA338758658 rs763793904 |
667 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763793904 CA652433 |
667 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455196119 CA338758635 |
668 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs2275402 CA652432 |
670 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs2275402 CA652431 |
670 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338758577 rs1284157661 |
671 | F>L | No |
ClinGen TOPMed |
|
|
rs776183467 CA18814804 |
672 | Y>C | No |
ClinGen TOPMed |
|
|
CA338758542 rs1449490370 |
672 | Y>N | No |
ClinGen gnomAD |
|
|
rs759027803 CA652429 |
674 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs759027803 CA652428 |
674 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773767036 CA652427 |
675 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351877489 CA338758472 |
675 | D>N | No |
ClinGen TOPMed |
|
|
CA338758450 rs1285939271 |
676 | A>T | No |
ClinGen gnomAD |
|
|
rs1373361040 CA338758422 |
677 | E>D | No |
ClinGen gnomAD |
|
|
CA338758440 rs1238610671 |
677 | E>Q | No |
ClinGen gnomAD |
|
|
rs770207023 CA338758414 |
678 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA652426 rs770207023 |
678 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs748843419 CA18814796 |
680 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748488738 CA652425 |
680 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550787407 CA652421 |
685 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs901905420 CA18814772 RCV000760591 |
687 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1215427102 RCV001309767 CA338757271 |
689 | D>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA338757273 rs1184024173 |
689 | D>V | No |
ClinGen TOPMed |
|
|
rs1005818316 CA18813170 |
697 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 699 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA652394 rs781072054 |
702 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001323749 rs767221166 CA652393 |
705 | Q>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA652391 rs199561891 |
706 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652392 rs188945281 |
706 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338756976 rs1328912423 |
707 | I>V | No |
ClinGen gnomAD |
|
|
CA652388 rs139714938 |
708 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652386 rs760968223 |
710 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA338756786 rs775852029 |
713 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001350162 rs772294287 CA652384 COSM240339 |
714 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs896315803 CA18813069 |
714 | R>H | No |
ClinGen TOPMed |
|
|
rs896315803 CA338756775 RCV001303487 |
714 | R>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA652383 rs746049382 |
715 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA338756748 rs1432089657 |
715 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774684957 CA652382 |
716 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs770906017 CA338756718 |
717 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770906017 CA652381 |
717 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18813038 rs1052665530 |
719 | V>I | No |
ClinGen TOPMed |
|
|
CA338756575 rs1160917593 |
722 | Q>R | No |
ClinGen TOPMed |
|
|
CA652379 rs777786640 |
724 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1211831 rs756136017 CA652378 |
724 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA338756379 rs1335305881 |
728 | D>E | No |
ClinGen gnomAD |
|
|
CA652376 rs376593702 |
729 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338756373 rs1226576903 |
729 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA338756374 rs1226576903 |
729 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754850089 CA652375 |
730 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA18812990 rs143090840 |
732 | L>F | No |
ClinGen ESP gnomAD |
|
|
CA652371 rs749944857 |
734 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1378590300 CA338755257 |
735 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 736 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338755255 rs768141678 |
736 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA652347 rs759757150 |
737 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766462471 CA652345 |
738 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA338755223 rs1486761878 |
739 | N>S | No |
ClinGen gnomAD |
|
|
rs1282330349 CA338755194 |
743 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1311042295 CA338755156 |
746 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA338755159 rs1186840444 |
746 | E>G | No |
ClinGen TOPMed |
|
| rs773033814 | 747 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298743811 CA338755148 |
747 | S>N | No |
ClinGen gnomAD |
|
|
CA652338 RCV001327779 rs149268308 |
750 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA18810994 rs749499331 |
752 | H>L | No |
ClinGen Ensembl |
|
|
rs1243255422 CA338755092 |
752 | H>Q | No |
ClinGen TOPMed |
|
|
CA652335 rs548851892 |
754 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338755075 rs971300635 |
754 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA18810988 rs971300635 |
754 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs971300635 CA338755074 |
754 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA652333 rs200674851 |
755 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338755030 rs865962295 |
759 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs865962295 CA18810977 |
759 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1033077374 CA18810974 |
761 | L>V | No |
ClinGen Ensembl |
|
|
CA652331 rs35788281 |
762 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376929368 CA652330 |
762 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA18810967 rs35788281 |
762 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755531071 CA652329 |
764 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 765 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338754971 rs1477884906 |
765 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766820627 CA652327 |
767 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652326 rs763467427 |
768 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV001246841 CA652325 rs527601179 |
768 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1218426523 CA338754875 |
774 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1191490268 CA338754867 |
775 | Q>R | No |
ClinGen gnomAD |
|
|
CA652321 rs768434578 |
777 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 778 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760627636 CA652320 |
779 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571975926 CA338754788 |
782 | V>A | No |
ClinGen Ensembl |
|
|
rs900492490 CA18810863 |
782 | V>I | No |
ClinGen Ensembl |
|
|
rs540813358 CA652318 |
784 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770588339 CA652315 |
785 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770588339 CA652316 |
785 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755621065 CA652312 |
786 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA652314 rs748698473 |
786 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs747536246 CA652311 |
787 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs372689832 CA652310 COSM1337443 |
788 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA338754692 rs1423143980 |
791 | V>L | No |
ClinGen gnomAD |
|
|
rs1264208332 CA338754629 |
793 | Y>C | No |
ClinGen gnomAD |
|
|
CA338754621 rs1354573863 |
794 | Q>R | No |
ClinGen gnomAD |
|
|
rs1252881522 CA338754606 |
796 | W>* | No |
ClinGen TOPMed |
|
|
rs1444607844 CA338754592 |
798 | T>A | No |
ClinGen gnomAD |
|
|
CA338754578 rs1373498280 |
800 | A>S | No |
ClinGen gnomAD |
|
|
rs756154938 CA652285 |
801 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA652286 rs764292055 |
801 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA652284 rs372151221 |
802 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1500152 CA338754566 rs1313822295 |
802 | R>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA652283 rs767398238 |
803 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994800826 CA18810491 COSM1337442 |
804 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs187230046 CA652281 |
805 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA652277 rs543457208 |
807 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561638764 CA652278 |
807 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338754537 CA652279 rs561638764 |
807 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA652274 rs146394541 |
811 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338754499 rs146394541 |
811 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338754485 rs1285872399 |
813 | G>S | No |
ClinGen gnomAD |
|
|
rs746034148 CA18810374 |
817 | Y>C | No |
ClinGen Ensembl |
|
|
CA338754437 rs1347137887 |
817 | Y>N | No |
ClinGen gnomAD |
|
|
CA652271 rs771325376 |
818 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs141218180 CA338754401 |
818 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001339271 rs371524055 CA652269 |
819 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1571974075 CA338754369 |
820 | T>I | No |
ClinGen Ensembl |
|
|
CA338754367 rs1296201536 COSM901463 |
821 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756316930 CA652267 |
824 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA652265 rs563968339 |
827 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA652264 rs145843835 |
827 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA652263 rs145843835 |
827 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762750656 CA652261 |
829 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs912285049 CA18810302 |
831 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1215085632 CA338754184 |
831 | P>S | No |
ClinGen gnomAD |
|
|
COSM1337440 CA652259 rs764903161 |
833 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA652258 rs200262244 |
835 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA338754092 rs1458391799 |
836 | Q>* | No |
ClinGen gnomAD |
|
|
rs776468170 CA652257 |
838 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA652255 rs760325675 |
840 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA652254 rs774856592 |
841 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338753978 rs774856592 |
841 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039389337 CA18810262 |
841 | P>S | No |
ClinGen Ensembl |
|
|
CA652252 rs749619241 |
842 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338753959 rs1450111287 |
843 | S>A | No |
ClinGen gnomAD |
|
|
rs1359283590 CA338753947 |
844 | I>L | No |
ClinGen gnomAD |
|
|
CA652250 rs377010214 |
844 | I>N | No |
ClinGen ESP TOPMed |
|
|
CA18810226 rs943197848 |
846 | A>T | No |
ClinGen gnomAD |
|
|
rs770184000 CA652248 |
847 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338753881 rs1359033199 |
847 | M>V | No |
ClinGen gnomAD |
|
|
rs748348374 CA652247 |
848 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA338753858 rs1365620590 |
848 | E>K | No |
ClinGen TOPMed |
|
|
CA652246 rs781453209 |
849 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338753825 rs1244489317 |
849 | A>V | No |
ClinGen gnomAD |
|
|
rs973743110 CA18810212 |
850 | T>I | No |
ClinGen TOPMed |
|
|
CA338753772 rs1192189702 |
852 | T>A | No |
ClinGen gnomAD |
|
|
rs778393984 CA18810200 |
854 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779992757 CA652243 |
854 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652242 rs758298569 |
857 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA338753624 rs750410302 |
858 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652241 rs750410302 |
858 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764914973 CA652240 |
859 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761754934 CA652239 |
859 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486922811 CA338753567 |
860 | H>Q | No |
ClinGen TOPMed |
|
|
rs765739409 CA652211 |
863 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762115510 CA652210 |
869 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA338752450 rs1245894265 |
870 | I>V | No |
ClinGen gnomAD |
|
|
CA652208 rs769048812 |
873 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA652207 rs369308304 |
874 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338752317 rs1209835718 |
874 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV001044109 rs1209835718 |
874 | P>T | No |
ClinVar dbSNP |
|
|
CA652206 rs775835942 |
877 | L>W | No |
ClinGen ExAC gnomAD |
|
|
RCV001351908 rs202180622 CA652204 |
878 | L>R | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
|
rs375114221 RCV001230208 CA652203 |
881 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201459490 CA652202 |
881 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001208839 COSM1337439 CA652201 rs778938462 |
882 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001234471 rs777711850 CA652200 |
882 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA18808925 rs977169522 |
886 | P>L | No |
ClinGen TOPMed |
|
|
RCV001061979 rs755986625 CA652197 |
886 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA338751596 rs1276826963 |
887 | T>R | No |
ClinGen TOPMed |
|
|
rs1419248454 CA338751549 |
889 | Q>* | No |
ClinGen gnomAD |
|
|
rs1258131141 CA338750706 |
892 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA652176 rs201239769 |
892 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs756275805 | 893 | E>missing | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146583625 CA652172 |
897 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754337469 CA652169 |
902 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA652168 rs764588699 |
904 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781137936 RCV000735083 |
905 | H>missing | No |
ClinVar dbSNP |
|
|
CA18808354 rs374950905 |
905 | H>D | No |
ClinGen ExAC TOPMed |
|
|
rs374950905 CA652167 |
905 | H>N | No |
ClinGen ExAC TOPMed |
|
|
CA652164 rs767596155 |
906 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335037068 CA338750214 |
906 | A>V | No |
ClinGen gnomAD |
|
|
CA338750169 rs1449245648 |
908 | R>* | No |
ClinGen gnomAD |
|
|
CA18808352 rs946570469 |
908 | R>Q | No |
ClinGen TOPMed |
|
|
rs759773407 CA652163 |
909 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652162 rs771125704 |
910 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 912 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2093416084 RCV001235191 |
917 | S>missing | No |
ClinVar dbSNP |
|
|
RCV001324384 rs529971469 CA652159 |
917 | S>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA338749943 rs139335524 |
918 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747855639 CA338749932 |
918 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747855639 CA652157 |
918 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338749916 rs1348115762 |
919 | M>V | No |
ClinGen TOPMed |
|
|
COSM1601449 rs548595466 CA652154 |
920 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs548595466 CA338749895 |
920 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562770564 CA652153 |
920 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA652151 rs749946960 |
924 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1267820277 CA338749770 |
925 | A>T | No |
ClinGen gnomAD |
|
|
rs1246143418 CA338749743 |
926 | P>L | No |
ClinGen gnomAD |
|
|
rs756676817 COSM3728040 CA652149 |
927 | S>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA338749638 rs767902629 |
931 | S>A | No |
ClinGen ExAC |
|
|
CA652147 rs767902629 |
931 | S>P | No |
ClinGen ExAC |
|
|
CA18808141 rs1023507564 |
942 | I>T | No |
ClinGen TOPMed |
|
|
rs748675045 CA652129 |
943 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001042058 CA18808129 rs961387374 |
945 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA652128 rs781655970 |
945 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652127 rs755331088 |
946 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs374448290 CA652126 |
946 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374448290 CA18808122 |
946 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001243058 rs758659439 CA652124 |
947 | V>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1571964100 CA338749175 |
952 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 959 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA652120 rs776565472 |
963 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652119 rs764032239 |
966 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18808060 rs368308375 |
966 | S>N | No |
ClinGen Ensembl |
|
|
rs751463146 CA18808059 |
967 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001067228 CA652117 rs775293691 |
968 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA338748835 rs1239059274 |
970 | F>L | No |
ClinGen TOPMed |
|
|
RCV001338573 rs2093413759 |
970 | F>S | No |
ClinVar dbSNP |
|
|
rs1339321892 CA338748805 |
973 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 974 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558088273 CA338748752 |
977 | M>I | No |
ClinGen Ensembl |
|
|
rs774959509 CA652114 |
977 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA338748738 rs1311118503 |
979 | T>A | No |
ClinGen TOPMed |
|
|
rs770471010 CA652113 |
979 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338748688 rs1427612524 |
984 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1427612524 CA338748692 |
984 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA338748678 rs1196521236 |
985 | V>M | No |
ClinGen gnomAD |
|
|
rs1571963780 RCV001008046 |
986 | K>* | No |
ClinVar dbSNP |
|
|
rs763991776 CA652109 |
990 | R>L | No |
ClinGen ExAC |
|
|
rs763991776 CA652108 |
990 | R>Q | No |
ClinGen ExAC |
|
|
CA652111 rs755567367 |
990 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191135592 CA338748607 |
991 | A>V | No |
ClinGen gnomAD |
|
|
RCV001204361 rs758888994 CA338748589 |
993 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758888994 CA652107 |
993 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA652106 rs141380621 |
993 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q8N766
[MIM: 616875]: Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR)
An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. {ECO:0000269|PubMed:26942288}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. {ECO:0000269|PubMed:26942288}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| EMC complex | A transmembrane protein complex located in the endoplasmic reticulum (ER) involved in the insertion of newly synthesized proteins in the membrane of the ER. In S. cerevisiae, it has six members: EMC1, EMC2, AIM27, EMC4, KRE27, and EMC6. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein insertion into ER membrane by stop-transfer membrane-anchor sequence | A process of protein insertion into the endoplasmic reticulum (ER) membrane in which stop-transfer membrane-anchor sequences become an ER membrane spanning helix. |
| tail-anchored membrane protein insertion into ER membrane | A process of protein insertion into the endoplasmic reticulum (ER) membrane in which a tail-anchored (TA) transmembrane protein is incorporated into an endoplasmic reticulum (ER) membrane. TA transmembrane protein, also named type II transmembrane proteins, contain a single C- terminal transmembrane region. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAEWASRFW | LWATLLIPAA | AVYEDQVGKF | DWRQQYVGKV | KFASLEFSPG | SKKLVVATEK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVIAALNSRT | GEILWRHVDK | GTAEGAVDAM | LLHGQDVITV | SNGGRIMRSW | ETNIGGLNWE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ITLDSGSFQA | LGLVGLQESV | RYIAVLKKTT | LALHHLSSGH | LKWVEHLPES | DSIHYQMVYS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YGSGVVWALG | VVPFSHVNIV | KFNVEDGEIV | QQVRVSTPWL | QHLSGACGVV | DEAVLVCPDP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSRSLQTLAL | ETEWELRQIP | LQSLDLEFGS | GFQPRVLPTQ | PNPVDASRAQ | FFLHLSPSHY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ALLQYHYGTL | SLLKNFPQTA | LVSFATTGEK | TVAAVMACRN | EVQKSSSSED | GSMGSFSEKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSKDSLACFN | QTYTINLYLV | ETGRRLLDTT | ITFSLEQSGT | RPERLYIQVF | LKKDDSVGYR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALVQTEDHLL | LFLQQLAGKV | VLWSREESLA | EVVCLEMVDL | PLTGAQAELE | GEFGKKADGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LGMFLKRLSS | QLILLQAWTS | HLWKMFYDAR | KPRSQIKNEI | NIDTLARDEF | NLQKMMVMVT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ASGKLFGIES | SSGTILWKQY | LPNVKPDSSF | KLMVQRTTAH | FPHPPQCTLL | VKDKESGMSS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LYVFNPIFGK | WSQVAPPVLK | RPILQSLLLP | VMDQDYAKVL | LLIDDEYKVT | AFPATRNVLR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QLHELAPSIF | FYLVDAEQGR | LCGYRLRKDL | TTELSWELTI | PPEVQRIVKV | KGKRSSEHVH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SQGRVMGDRS | VLYKSLNPNL | LAVVTESTDA | HHERTFIGIF | LIDGVTGRII | HSSVQKKAKG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PVHIVHSENW | VVYQYWNTKA | RRNEFTVLEL | YEGTEQYNAT | AFSSLDRPQL | PQVLQQSYIF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PSSISAMEAT | ITERGITSRH | LLIGLPSGAI | LSLPKALLDP | RRPEIPTEQS | REENLIPYSP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DVQIHAERFI | NYNQTVSRMR | GIYTAPSGLE | STCLVVAYGL | DIYQTRVYPS | KQFDVLKDDY |
| 970 | 980 | 990 | |||
| DYVLISSVLF | GLVFATMITK | RLAQVKLLNR | AWR |